#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
ABCB10	23456	genome.wustl.edu	37	1	229676385	229676385	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr1:229676385C>G	ENST00000344517.4	-	5	1213	c.1171G>C	c.(1171-1173)Gag>Cag	p.E391Q		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	391	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				GCGAATGCCTCTTTCCTTGCT	0.398																																						dbGAP											0													124.0	115.0	118.0					1																	229676385		2203	4300	6503	-	-	-	SO:0001583	missense	0			U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1171G>C	1.37:g.229676385C>G	ENSP00000355637:p.Glu391Gln		Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.E391Q	ENST00000344517.4	37	c.1171	CCDS1580.1	1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782479	0.70222	.	.	ENSG00000135776	ENST00000344517	D	0.89617	-2.54	5.27	5.27	0.74061	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.045517	0.85682	D	0.000000	D	0.89914	0.6853	L	0.55481	1.735	0.80722	D	1	P	0.46578	0.88	P	0.48654	0.585	D	0.88498	0.3080	10	0.33940	T	0.23	-21.3974	19.2548	0.93941	0.0:1.0:0.0:0.0	.	391	Q9NRK6	ABCBA_HUMAN	Q	391	ENSP00000355637:E391Q	ENSP00000355637:E391Q	E	-	1	0	ABCB10	227743008	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	7.387000	0.79785	2.606000	0.88127	0.591000	0.81541	GAG	ABCB10	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000135776		0.398	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB10	HGNC	protein_coding	OTTHUMT00000095240.1	209	0.47	1	C	NM_012089		229676385	229676385	-1	no_errors	ENST00000344517	ensembl	human	known	69_37n	missense	109	19.85	27	SNP	1.000	G
ABCB10	23456	genome.wustl.edu	37	1	229678083	229678083	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr1:229678083C>G	ENST00000344517.4	-	4	999	c.957G>C	c.(955-957)ttG>ttC	p.L319F		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	319	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				GCACCACGCTCAAAACAAAGG	0.433																																						dbGAP											0													54.0	51.0	52.0					1																	229678083		2203	4300	6503	-	-	-	SO:0001583	missense	0			U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.957G>C	1.37:g.229678083C>G	ENSP00000355637:p.Leu319Phe		Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L319F	ENST00000344517.4	37	c.957	CCDS1580.1	1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590881	0.66219	.	.	ENSG00000135776	ENST00000344517	D	0.92699	-3.09	4.91	3.04	0.35103	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.062992	0.64402	D	0.000005	D	0.88325	0.6406	L	0.49640	1.575	0.58432	D	0.999992	B	0.32731	0.382	B	0.34452	0.183	D	0.84892	0.0837	10	0.48119	T	0.1	-18.5715	9.4882	0.38942	0.0:0.7713:0.0:0.2287	.	319	Q9NRK6	ABCBA_HUMAN	F	319	ENSP00000355637:L319F	ENSP00000355637:L319F	L	-	3	2	ABCB10	227744706	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.916000	0.28651	0.776000	0.33473	0.561000	0.74099	TTG	ABCB10	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000135776		0.433	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB10	HGNC	protein_coding	OTTHUMT00000095240.1	129	0.00	0	C	NM_012089		229678083	229678083	-1	no_errors	ENST00000344517	ensembl	human	known	69_37n	missense	46	22.95	14	SNP	1.000	G
ALOX15	246	genome.wustl.edu	37	17	4535496	4535496	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr17:4535496C>T	ENST00000570836.1	-	13	1717	c.1621G>A	c.(1621-1623)Gcc>Acc	p.A541T	ALOX15_ENST00000574640.1_Missense_Mutation_p.A502T|ALOX15_ENST00000545513.1_Missense_Mutation_p.A563T|ALOX15_ENST00000293761.3_Missense_Mutation_p.A541T			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	541	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		TGCACAGAGGCGTGTTGGCCG	0.592																																						dbGAP											0													70.0	69.0	70.0					17																	4535496		2203	4300	6503	-	-	-	SO:0001583	missense	0			M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.1621G>A	17.37:g.4535496C>T	ENSP00000458832:p.Ala541Thr		A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C,pfscan_LipOase_LH2	p.A563T	ENST00000570836.1	37	c.1687	CCDS11049.1	17	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779393	0.31502	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.11821	2.74;2.74	4.08	1.78	0.24846	Lipoxygenase, C-terminal (3);	0.225560	0.37178	N	0.002216	T	0.21347	0.0514	M	0.91612	3.225	0.22811	N	0.998705	B;B;B	0.32365	0.367;0.222;0.222	B;B;B	0.29942	0.066;0.109;0.109	T	0.17077	-1.0381	10	0.72032	D	0.01	-18.673	8.1772	0.31289	0.5884:0.4116:0.0:0.0	.	563;502;541	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	T	541;563	ENSP00000293761:A541T;ENSP00000439855:A563T	ENSP00000293761:A541T	A	-	1	0	ALOX15	4482245	0.253000	0.23982	0.828000	0.32881	0.529000	0.34654	0.206000	0.17375	0.144000	0.18951	-0.335000	0.08231	GCC	ALOX15	-	pfam_LipOase_C,superfamily_LipOase_C	ENSG00000161905		0.592	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX15	HGNC	protein_coding	OTTHUMT00000207487.2	128	0.00	0	C			4535496	4535496	-1	no_errors	ENST00000545513	ensembl	human	known	69_37n	missense	25	37.50	15	SNP	0.999	T
APC	324	genome.wustl.edu	37	5	112154710	112154710	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr5:112154710delG	ENST00000457016.1	+	10	1361	c.981delG	c.(979-981)aagfs	p.K327fs	APC_ENST00000257430.4_Frame_Shift_Del_p.K327fs|APC_ENST00000508376.2_Frame_Shift_Del_p.K327fs			P25054	APC_HUMAN	adenomatous polyposis coli	327	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTCATGATAAGGATGATATGT	0.418		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	dbGAP	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	0													205.0	180.0	188.0					5																	112154710		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.981delG	5.37:g.112154710delG	ENSP00000413133:p.Lys327fs		D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.D328fs	ENST00000457016.1	37	c.981	CCDS4107.1	5																																																																																			APC	-	NULL	ENSG00000134982		0.418	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	100	0.98	1	G	NM_000038		112154710	112154710	+1	no_errors	ENST00000257430	ensembl	human	known	69_37n	frame_shift_del	6	76.67	23	DEL	1.000	-
AQP11	282679	genome.wustl.edu	37	11	77301600	77301600	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr11:77301600G>A	ENST00000313578.3	+	1	921	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	AQP11_ENST00000528638.1_3'UTR	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	188					endosomal lumen acidification (GO:0048388)|protein homooligomerization (GO:0051260)|proximal tubule development (GO:0072014)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			CAGGAAGTCCGAACCAAGCTT	0.517																																						dbGAP											0													148.0	155.0	153.0					11																	77301600		2200	4292	6492	-	-	-	SO:0001583	missense	0			AB028147	CCDS8251.1	11q13.5	2008-02-05			ENSG00000178301	ENSG00000178301		"""Ion channels / Aquaporins"""	19940	protein-coding gene	gene with protein product		609914				16107722	Standard	NM_173039		Approved		uc001oyj.3	Q8NBQ7	OTTHUMG00000165194	ENST00000313578.3:c.563G>A	11.37:g.77301600G>A	ENSP00000318770:p.Arg188Gln			Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_11,prints_MIP	p.R188Q	ENST00000313578.3	37	c.563	CCDS8251.1	11	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559659	0.27827	.	.	ENSG00000178301	ENST00000313578	D	0.85339	-1.97	5.54	3.62	0.41486	Aquaporin-like (2);	0.489617	0.21652	N	0.071177	D	0.82783	0.5112	M	0.65975	2.015	0.09310	N	1	P	0.45569	0.861	B	0.43251	0.413	T	0.71724	-0.4506	10	0.30078	T	0.28	-7.927	9.7105	0.40243	0.0767:0.4017:0.5215:0.0	.	188	Q8NBQ7	AQP11_HUMAN	Q	188	ENSP00000318770:R188Q	ENSP00000318770:R188Q	R	+	2	0	AQP11	76979248	0.407000	0.25352	0.155000	0.22561	0.855000	0.48748	2.807000	0.47955	0.663000	0.31027	0.491000	0.48974	CGA	AQP11	-	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_11	ENSG00000178301		0.517	AQP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP11	HGNC	protein_coding	OTTHUMT00000382582.1	123	0.00	0	G	NM_173039		77301600	77301600	+1	no_errors	ENST00000313578	ensembl	human	known	69_37n	missense	45	53.61	52	SNP	0.002	A
BRD1	23774	genome.wustl.edu	37	22	50192705	50192705	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr22:50192705delC	ENST00000216267.8	-	3	2073	c.1587delG	c.(1585-1587)cggfs	p.R529fs	BRD1_ENST00000404034.1_Frame_Shift_Del_p.R529fs|BRD1_ENST00000542442.1_Frame_Shift_Del_p.R222fs|BRD1_ENST00000404760.1_Frame_Shift_Del_p.R529fs|BRD1_ENST00000457780.2_Frame_Shift_Del_p.R529fs|BRD1_ENST00000342989.5_Frame_Shift_Del_p.R124fs	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	529					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCAGGTCGTGCCGCAGCCGCT	0.602																																						dbGAP											0													59.0	56.0	57.0					22																	50192705		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1587delG	22.37:g.50192705delC	ENSP00000216267:p.Arg529fs		A6ZJA4	Frame_Shift_Del	DEL	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain	p.H530fs	ENST00000216267.8	37	c.1587	CCDS14080.1	22																																																																																			BRD1	-	NULL	ENSG00000100425		0.602	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BRD1	HGNC	protein_coding	OTTHUMT00000317402.1	97	0.00	0	C	NM_014577		50192705	50192705	-1	no_errors	ENST00000216267	ensembl	human	known	69_37n	frame_shift_del	20	28.57	8	DEL	0.966	-
C11orf49	79096	genome.wustl.edu	37	11	47182744	47182744	+	Intron	DEL	A	A	-			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr11:47182744delA	ENST00000278460.7	+	8	880				C11orf49_ENST00000536126.1_Intron|C11orf49_ENST00000543718.1_Intron|C11orf49_ENST00000378615.3_Intron|C11orf49_ENST00000395460.2_Stop_Codon_Del|C11orf49_ENST00000378618.2_Intron	NM_001003677.1|NM_024113.3	NP_001003677.1|NP_077018.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49							nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						GAACGGCTGTAAGTGTCAAGT	0.572											OREG0020950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													82.0	73.0	76.0					11																	47182744		2201	4299	6500	-	-	-	SO:0001627	intron_variant	0			AL136575	CCDS7925.1, CCDS31479.1, CCDS31480.1, CCDS41641.1	11p11.2	2006-02-02			ENSG00000149179	ENSG00000149179			28720	protein-coding gene	gene with protein product							Standard	NM_001003677		Approved	FLJ22210, MGC4707	uc001ndr.4	Q9H6J7	OTTHUMG00000166725	ENST00000278460.7:c.821+3A>-	11.37:g.47182744delA		944	D3DQQ8|E9PAX7|Q7L077|Q96CS8|Q9BQH4|Q9BUW5	Frame_Shift_Del	DEL	NULL	p.*275fs	ENST00000278460.7	37	c.824	CCDS7925.1	11																																																																																			C11orf49	-	NULL	ENSG00000149179		0.572	C11orf49-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf49	HGNC	protein_coding	OTTHUMT00000391218.1	76	0.00	0	A	NM_024113		47182744	47182744	+1	no_errors	ENST00000395460	ensembl	human	known	69_37n	frame_shift_del	8	64.00	16	DEL	1.000	-
C20orf166-AS1	253868	genome.wustl.edu	37	20	61143471	61143471	+	RNA	SNP	C	C	T	rs200949989	byFrequency	TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr20:61143471C>T	ENST00000475015.1	-	0	867				C20orf166-AS1_ENST00000412495.1_RNA|C20orf166-AS1_ENST00000436101.1_RNA			Q96NR2	C2AS1_HUMAN	C20orf166 antisense RNA 1																		TTTCTGCCCACGATAGAGACC	0.652													C|||	3	0.000599042	0.0008	0.0	5008	,	,		17806	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													48.0	47.0	47.0					20																	61143471		2203	4300	6503	-	-	-			0			AK054875		20q13.33	2012-10-12	2012-08-15	2011-08-10	ENSG00000174403	ENSG00000174403		"""Long non-coding RNAs"""	26393	non-coding RNA	RNA, long non-coding			"""chromosome 20 open reading frame 200"", ""non-protein coding RNA 335"", ""C20orf166 antisense RNA 1 (non-protein coding)"""	C20orf200, NCRNA00335			Standard	NR_033263		Approved	FLJ30313	uc002ycz.3	Q96NR2	OTTHUMG00000048002		20.37:g.61143471C>T			Q52LN1	RNA	SNP	-	NULL	ENST00000475015.1	37	NULL		20																																																																																			C20orf166-AS1	-	-	ENSG00000174403		0.652	C20orf166-AS1-002	KNOWN	basic	antisense	C20orf166-AS1	HGNC	antisense	OTTHUMT00000109266.2	58	0.00	0	C	NR_033263		61143471	61143471	-1	no_errors	ENST00000412495	ensembl	human	known	69_37n	rna	20	31.03	9	SNP	0.010	T
ERMARD	55780	genome.wustl.edu	37	6	170159085	170159085	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr6:170159085G>A	ENST00000366773.3	+	6	562	c.529G>A	c.(529-531)Gtt>Att	p.V177I	ERMARD_ENST00000366772.2_Missense_Mutation_p.V177I|ERMARD_ENST00000392095.4_Missense_Mutation_p.V51I|ERMARD_ENST00000588451.1_Missense_Mutation_p.V51I|ERMARD_ENST00000418781.3_Missense_Mutation_p.V177I	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	177					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											AAAAGTCTTCGTTGGCTCTCC	0.368																																						dbGAP											0													214.0	193.0	200.0					6																	170159085		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.529G>A	6.37:g.170159085G>A	ENSP00000355735:p.Val177Ile		B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	NULL	p.V177I	ENST00000366773.3	37	c.529	CCDS34576.1	6	.	.	.	.	.	.	.	.	.	.	g	0.007	-1.933986	0.00488	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095	T;T	0.38560	1.18;1.13	5.47	-8.17	0.01057	.	1.390360	0.04774	N	0.428499	T	0.03520	0.0101	N	0.02315	-0.6	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.001;0.001;0.003	T	0.18555	-1.0333	10	0.02654	T	1	.	10.5248	0.44941	0.6257:0.281:0.0933:0.0	.	177;177;177	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	I	177;177;177;51	ENSP00000355735:V177I;ENSP00000375945:V51I	ENSP00000355734:V177I	V	+	1	0	C6orf70	169901010	0.039000	0.19947	0.000000	0.03702	0.002000	0.02628	-0.666000	0.05280	-1.444000	0.01950	-2.559000	0.00174	GTT	C6orf70	-	NULL	ENSG00000130023		0.368	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf70	HGNC	protein_coding	OTTHUMT00000043238.2	182	0.55	1	G	NM_018341		170159085	170159085	+1	no_errors	ENST00000366773	ensembl	human	known	69_37n	missense	74	36.21	42	SNP	0.007	A
CACNA1D	776	genome.wustl.edu	37	3	53804500	53804500	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr3:53804500G>A	ENST00000350061.5	+	32	4476	c.3965G>A	c.(3964-3966)cGa>cAa	p.R1322Q	CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1307Q|CACNA1D_ENST00000288139.4_Missense_Mutation_p.R1342Q|CACNA1D_ENST00000540742.1_Missense_Mutation_p.R214Q	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1322					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGTCTTTTCCGAGTGATGCGA	0.463																																						dbGAP											0													113.0	112.0	112.0					3																	53804500		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3965G>A	3.37:g.53804500G>A	ENSP00000288133:p.Arg1322Gln		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.R1342Q	ENST00000350061.5	37	c.4025	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.470582	0.96274	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;D;D	0.98762	-5.12;-5.12;-5.12;-5.12;-5.12	5.66	5.66	0.87406	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99588	0.9851	H	0.98802	4.335	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.997;0.977;1.0	D;P;D;D;D	0.97110	1.0;0.89;0.933;0.94;1.0	D	0.97680	1.0172	10	0.87932	D	0	.	19.76	0.96311	0.0:0.0:1.0:0.0	.	1307;214;1015;1322;1342	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	Q	1322;1342;1307;1015;214	ENSP00000288133:R1322Q;ENSP00000288139:R1342Q;ENSP00000409174:R1307Q;ENSP00000418014:R1015Q;ENSP00000438229:R214Q	ENSP00000288139:R1342Q	R	+	2	0	CACNA1D	53779540	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.666000	0.90696	0.655000	0.94253	CGA	CACNA1D	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000157388		0.463	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	106	0.00	0	G	NM_000720		53804500	53804500	+1	no_errors	ENST00000288139	ensembl	human	known	69_37n	missense	56	39.13	36	SNP	1.000	A
CAPRIN2	65981	genome.wustl.edu	37	12	30872133	30872133	+	Silent	SNP	C	C	A	rs143445368	byFrequency	TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr12:30872133C>A	ENST00000395805.2	-	12	2617	c.2070G>T	c.(2068-2070)ccG>ccT	p.P690P	CAPRIN2_ENST00000298892.5_Intron|CAPRIN2_ENST00000417045.1_Silent_p.P725P|CAPRIN2_ENST00000251071.5_Silent_p.P725P|CAPRIN2_ENST00000308433.5_Silent_p.P392P	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTAGTGAAGACGGTTGCTTGC	0.493																																						dbGAP											0													150.0	140.0	143.0					12																	30872133		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.2070G>T	12.37:g.30872133C>A				Silent	SNP	pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,prints_C1q,pfscan_C1q	p.P725	ENST00000395805.2	37	c.2175	CCDS55816.1	12																																																																																			CAPRIN2	-	pfam_Caprin-1_C	ENSG00000110888		0.493	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CAPRIN2	HGNC	protein_coding	OTTHUMT00000403322.2	187	0.53	1	C	NM_023925		30872133	30872133	-1	no_errors	ENST00000251071	ensembl	human	known	69_37n	silent	43	55.67	54	SNP	0.002	A
CDC42EP1	11135	genome.wustl.edu	37	22	37964206	37964206	+	Silent	SNP	C	C	T			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr22:37964206C>T	ENST00000249014.4	+	3	975	c.555C>T	c.(553-555)ccC>ccT	p.P185P		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	185					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CCTCTGAGCCCGGGCTTCGCC	0.642																																						dbGAP											0													73.0	81.0	78.0					22																	37964206		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.555C>T	22.37:g.37964206C>T			A8K825|Q96GN1	Silent	SNP	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd	p.P185	ENST00000249014.4	37	c.555	CCDS13949.1	22																																																																																			CDC42EP1	-	NULL	ENSG00000128283		0.642	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP1	HGNC	protein_coding	OTTHUMT00000318993.1	47	0.00	0	C	NM_152243		37964206	37964206	+1	no_errors	ENST00000249014	ensembl	human	known	69_37n	silent	10	52.38	11	SNP	0.000	T
CHI3L1	1116	genome.wustl.edu	37	1	203154343	203154344	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr1:203154343_203154344insC	ENST00000255409.3	-	3	350_351	c.225_226insG	c.(223-228)acgctcfs	p.L76fs		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	76					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						ATGCCGTAGAGCGTCACATCAT	0.579																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.226dupG	1.37:g.203154344_203154344dupC	ENSP00000255409:p.Leu76fs		B2R7B0|P30923|Q8IVA4|Q96HI7	Frame_Shift_Ins	INS	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.L75fs	ENST00000255409.3	37	c.226_225	CCDS1435.1	1																																																																																			CHI3L1	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	ENSG00000133048		0.579	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHI3L1	HGNC	protein_coding	OTTHUMT00000100265.1	114	0.00	0	-	NM_001276		203154343	203154344	-1	no_errors	ENST00000255409	ensembl	human	known	69_37n	frame_shift_ins	33	58.23	46	INS	0.986:0.005	C
CNTNAP5	129684	genome.wustl.edu	37	2	125405531	125405531	+	Silent	SNP	G	G	A			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr2:125405531G>A	ENST00000431078.1	+	13	2434	c.2070G>A	c.(2068-2070)acG>acA	p.T690T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	690	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGCTCAACACGCCGGGTAAGG	0.587																																						dbGAP											0													20.0	22.0	21.0					2																	125405531		2029	4181	6210	-	-	-	SO:0001819	synonymous_variant	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2070G>A	2.37:g.125405531G>A			Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.T690	ENST00000431078.1	37	c.2070	CCDS46401.1	2																																																																																			CNTNAP5	-	NULL	ENSG00000155052		0.587	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	50	0.00	0	G			125405531	125405531	+1	no_errors	ENST00000431078	ensembl	human	known	69_37n	silent	8	57.89	11	SNP	0.037	A
CXorf38	159013	genome.wustl.edu	37	X	40506283	40506283	+	Silent	SNP	G	G	T			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chrX:40506283G>T	ENST00000327877.5	-	2	353	c.327C>A	c.(325-327)ccC>ccA	p.P109P	CXorf38_ENST00000378421.1_5'UTR|CXorf38_ENST00000378418.2_Silent_p.P109P|CXorf38_ENST00000378426.1_5'UTR|CXorf38_ENST00000440784.2_Intron	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	109										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						AGGCGTCCACGGGCCAGCGGC	0.617																																						dbGAP											0													18.0	21.0	20.0					X																	40506283		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			AL832829	CCDS14253.1	Xp11	2008-02-05			ENSG00000185753	ENSG00000185753			28589	protein-coding gene	gene with protein product							Standard	NM_144970		Approved	MGC39350	uc004dew.3	Q8TB03	OTTHUMG00000024104	ENST00000327877.5:c.327C>A	X.37:g.40506283G>T			B3KW28|D3DWB5|Q5JPF5|Q8N941	Silent	SNP	NULL	p.P109	ENST00000327877.5	37	c.327	CCDS14253.1	X																																																																																			CXorf38	-	NULL	ENSG00000185753		0.617	CXorf38-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf38	HGNC	protein_coding	OTTHUMT00000060685.3	44	0.00	0	G	NM_144970		40506283	40506283	-1	no_errors	ENST00000327877	ensembl	human	known	69_37n	silent	13	38.10	8	SNP	0.001	T
DGAT2	84649	genome.wustl.edu	37	11	75501262	75501262	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr11:75501262A>G	ENST00000228027.7	+	3	540	c.280A>G	c.(280-282)Ata>Gta	p.I94V	DGAT2_ENST00000376262.3_Missense_Mutation_p.I51V	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	94					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|cellular response to oleic acid (GO:0071400)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|diacylglycerol metabolic process (GO:0046339)|fat pad development (GO:0060613)|fatty acid homeostasis (GO:0055089)|glycerol metabolic process (GO:0006071)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)|protein homodimerization activity (GO:0042803)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					CCTCATGTACATATTCTGCAC	0.562																																					Melanoma(35;811 1096 8354 24009 39363)	dbGAP											0													243.0	188.0	207.0					11																	75501262		2200	4293	6493	-	-	-	SO:0001583	missense	0				CCDS31642.1, CCDS58162.1	11q13.3	2010-06-24	2010-06-24		ENSG00000062282	ENSG00000062282			16940	protein-coding gene	gene with protein product		606983	"""diacylglycerol O-acyltransferase homolog 2 (mouse)"""			11481335, 14970677	Standard	NM_032564		Approved		uc001oxa.3	Q96PD7	OTTHUMG00000165338	ENST00000228027.7:c.280A>G	11.37:g.75501262A>G	ENSP00000228027:p.Ile94Val		A6ND76|Q5U810|Q68CL3|Q68DJ0|Q8NDB7|Q96BS0|Q9BYE5	Missense_Mutation	SNP	pfam_DAGAT	p.I94V	ENST00000228027.7	37	c.280	CCDS31642.1	11	.	.	.	.	.	.	.	.	.	.	A	14.66	2.603145	0.46423	.	.	ENSG00000062282	ENST00000524706;ENST00000533517;ENST00000228027;ENST00000376262;ENST00000525612;ENST00000526306	T;T	0.14266	2.52;2.52	5.49	5.49	0.81192	.	0.374110	0.33180	N	0.005190	T	0.12220	0.0297	L	0.29908	0.895	0.48830	D	0.999715	B;B	0.16802	0.008;0.019	B;B	0.19666	0.007;0.026	T	0.05784	-1.0864	10	0.44086	T	0.13	-2.5651	13.5453	0.61699	1.0:0.0:0.0:0.0	.	51;94	Q96PD7-2;Q96PD7	.;DGAT2_HUMAN	V	3;3;94;51;48;3	ENSP00000228027:I94V;ENSP00000365438:I51V	ENSP00000228027:I94V	I	+	1	0	DGAT2	75178910	0.997000	0.39634	0.924000	0.36721	0.962000	0.63368	2.572000	0.45999	2.074000	0.62210	0.460000	0.39030	ATA	DGAT2	-	pfam_DAGAT	ENSG00000062282		0.562	DGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGAT2	HGNC	protein_coding	OTTHUMT00000383506.1	179	0.00	0	A	NM_032564		75501262	75501262	+1	no_errors	ENST00000228027	ensembl	human	known	69_37n	missense	79	28.83	32	SNP	0.997	G
DIP2C	22982	genome.wustl.edu	37	10	395377	395377	+	Silent	SNP	C	C	T			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr10:395377C>T	ENST00000280886.6	-	25	3090	c.3003G>A	c.(3001-3003)tcG>tcA	p.S1001S		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1001						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGCAGGTCAGCGAGTTCGCTA	0.597																																						dbGAP											0													111.0	86.0	94.0					10																	395377		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3003G>A	10.37:g.395377C>T			B4DPI5|Q5SS78	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.S1001	ENST00000280886.6	37	c.3003	CCDS7054.1	10																																																																																			DIP2C	-	NULL	ENSG00000151240		0.597	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2C	HGNC	protein_coding	OTTHUMT00000046389.1	86	0.00	0	C	NM_014974		395377	395377	-1	no_errors	ENST00000280886	ensembl	human	known	69_37n	silent	69	15.85	13	SNP	0.018	T
DZANK1	55184	genome.wustl.edu	37	20	18414355	18414355	+	Missense_Mutation	SNP	C	C	T	rs578058743		TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr20:18414355C>T	ENST00000358866.6	-	8	824	c.802G>A	c.(802-804)Gtg>Atg	p.V268M	DZANK1_ENST00000262547.5_Missense_Mutation_p.V268M|DZANK1_ENST00000329494.5_Missense_Mutation_p.V270M|DZANK1_ENST00000357236.4_Missense_Mutation_p.V154M|DZANK1_ENST00000487128.1_5'UTR|RNA5SP476_ENST00000516613.1_RNA			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	268							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						TCACACACCACACAGATGGGA	0.453													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17070	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													98.0	99.0	99.0					20																	18414355		2014	4181	6195	-	-	-	SO:0001583	missense	0			AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.802G>A	20.37:g.18414355C>T	ENSP00000351734:p.Val268Met		B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.V268M	ENST00000358866.6	37	c.802	CCDS46582.1	20	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143279	0.37825	.	.	ENSG00000089091	ENST00000377630;ENST00000262547;ENST00000329494;ENST00000414623;ENST00000377637;ENST00000357236	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	4.97	3.78	0.43462	.	0.234064	0.34959	N	0.003545	T	0.51822	0.1697	L	0.53249	1.67	0.35266	D	0.779987	D;D;D;D	0.76494	0.998;0.999;0.992;0.992	D;D;P;D	0.69824	0.964;0.966;0.871;0.951	T	0.62666	-0.6806	10	0.87932	D	0	-8.0533	5.1075	0.14793	0.0:0.7463:0.0:0.2537	.	287;154;268;94	B7Z631;Q9NVP4-4;Q9NVP4;A6NKD0	.;.;DZAN1_HUMAN;.	M	95;268;270;94;94;154	ENSP00000366857:V95M;ENSP00000262547:V268M;ENSP00000328866:V270M;ENSP00000349774:V154M	ENSP00000262547:V268M	V	-	1	0	C20orf12	18362355	1.000000	0.71417	1.000000	0.80357	0.041000	0.13682	2.962000	0.49176	2.448000	0.82819	0.655000	0.94253	GTG	DZANK1	-	NULL	ENSG00000089091		0.453	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	DZANK1	HGNC	protein_coding	OTTHUMT00000471926.1	137	0.00	0	C	NM_001099407		18414355	18414355	-1	no_errors	ENST00000262547	ensembl	human	known	69_37n	missense	41	48.10	38	SNP	1.000	T
EDAR	10913	genome.wustl.edu	37	2	109547441	109547441	+	Silent	SNP	C	C	T			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr2:109547441C>T	ENST00000258443.2	-	2	460	c.30G>A	c.(28-30)acG>acA	p.T10T	EDAR_ENST00000376651.1_Silent_p.T10T|EDAR_ENST00000409271.1_Silent_p.T10T	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	10					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GGAGCCAGGGCGTCTGCGTGC	0.622																																						dbGAP											0													88.0	87.0	87.0					2																	109547441		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.30G>A	2.37:g.109547441C>T			B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Silent	SNP	pfam_Death,superfamily_DEATH-like	p.T10	ENST00000258443.2	37	c.30	CCDS2081.1	2																																																																																			EDAR	-	NULL	ENSG00000135960		0.622	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDAR	HGNC	protein_coding	OTTHUMT00000253595.1	68	0.00	0	C			109547441	109547441	-1	no_errors	ENST00000376651	ensembl	human	known	69_37n	silent	7	65.00	13	SNP	0.019	T
EFCAB6	64800	genome.wustl.edu	37	22	44004466	44004466	+	Silent	SNP	G	G	A			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr22:44004466G>A	ENST00000262726.7	-	22	2830	c.2577C>T	c.(2575-2577)acC>acT	p.T859T	EFCAB6_ENST00000396231.2_Silent_p.T707T	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	859	EF-hand 9. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCTCATTATCGGTTTCTAGAA	0.408																																						dbGAP											0													127.0	101.0	110.0					22																	44004466		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.2577C>T	22.37:g.44004466G>A			A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.T859	ENST00000262726.7	37	c.2577	CCDS14049.1	22																																																																																			EFCAB6	-	NULL	ENSG00000186976		0.408	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	96	0.00	0	G	NM_022785		44004466	44004466	-1	no_errors	ENST00000262726	ensembl	human	known	69_37n	silent	37	50.67	38	SNP	0.036	A
EPHA5	2044	genome.wustl.edu	37	4	66286192	66286192	+	Silent	SNP	G	G	T	rs377073108		TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr4:66286192G>T	ENST00000273854.3	-	6	2094	c.1494C>A	c.(1492-1494)atC>atA	p.I498I	EPHA5_ENST00000432638.2_Silent_p.I334I|EPHA5_ENST00000354839.4_Silent_p.I498I|EPHA5_ENST00000511294.1_Silent_p.I498I	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	498	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ACTCTAGGATGATTCCATTGG	0.338										TSP Lung(17;0.13)																												dbGAP											0													168.0	159.0	162.0					4																	66286192		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1494C>A	4.37:g.66286192G>T			Q7Z3F2	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I498	ENST00000273854.3	37	c.1494	CCDS3513.1	4																																																																																			EPHA5	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3	ENSG00000145242		0.338	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	270	0.00	0	G	NM_004439		66286192	66286192	-1	no_errors	ENST00000273854	ensembl	human	known	69_37n	silent	146	17.98	32	SNP	1.000	T
FAM208B	54906	genome.wustl.edu	37	10	5788704	5788704	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr10:5788704T>C	ENST00000328090.5	+	15	3945	c.3320T>C	c.(3319-3321)cTg>cCg	p.L1107P	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1107																	ACACAAGGCCTGAGGGACATT	0.473																																						dbGAP											0													127.0	122.0	124.0					10																	5788704		2007	4176	6183	-	-	-	SO:0001583	missense	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3320T>C	10.37:g.5788704T>C	ENSP00000328426:p.Leu1107Pro		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.L1107P	ENST00000328090.5	37	c.3320	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	T	3.581	-0.085540	0.07097	.	.	ENSG00000108021	ENST00000328090	T	0.05447	3.44	5.46	1.53	0.23141	.	0.849436	0.10262	N	0.695802	T	0.05227	0.0139	L	0.40543	1.245	0.09310	N	0.999999	B	0.25007	0.116	B	0.23852	0.049	T	0.43376	-0.9395	10	0.41790	T	0.15	.	1.416	0.02302	0.1777:0.0992:0.1844:0.5387	.	1107	Q5VWN6	F208B_HUMAN	P	1107	ENSP00000328426:L1107P	ENSP00000328426:L1107P	L	+	2	0	C10orf18	5828710	0.008000	0.16893	0.001000	0.08648	0.006000	0.05464	0.751000	0.26348	0.341000	0.23771	0.482000	0.46254	CTG	FAM208B	-	NULL	ENSG00000108021		0.473	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	80	0.00	0	T	NM_017782		5788704	5788704	+1	no_errors	ENST00000328090	ensembl	human	known	69_37n	missense	107	17.05	22	SNP	0.000	C
GABRA4	2557	genome.wustl.edu	37	4	46967096	46967096	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr4:46967096T>G	ENST00000264318.3	-	8	2007	c.1025A>C	c.(1024-1026)tAt>tCt	p.Y342S		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	342					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ATTGGTGAAATAGTTGACAGC	0.473																																					Ovarian(6;283 369 8234 12290 33402)	dbGAP											0													123.0	118.0	120.0					4																	46967096		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1025A>C	4.37:g.46967096T>G	ENSP00000264318:p.Tyr342Ser		Q8IYR7	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.Y342S	ENST00000264318.3	37	c.1025	CCDS3473.1	4	.	.	.	.	.	.	.	.	.	.	T	24.1	4.498721	0.85069	.	.	ENSG00000109158	ENST00000264318	D	0.87809	-2.3	4.81	4.81	0.61882	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92136	0.7507	M	0.66378	2.025	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.92969	0.6396	10	0.87932	D	0	.	13.6942	0.62567	0.0:0.0:0.0:1.0	.	342	P48169	GBRA4_HUMAN	S	342	ENSP00000264318:Y342S	ENSP00000264318:Y342S	Y	-	2	0	GABRA4	46661853	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.868000	0.87116	2.008000	0.58898	0.482000	0.46254	TAT	GABRA4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,tigrfam_Neur_channel	ENSG00000109158		0.473	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA4	HGNC	protein_coding	OTTHUMT00000216893.1	186	0.53	1	T			46967096	46967096	-1	no_errors	ENST00000264318	ensembl	human	known	69_37n	missense	68	49.64	68	SNP	1.000	G
GLUD2	2747	genome.wustl.edu	37	X	120181770	120181770	+	Missense_Mutation	SNP	G	G	A	rs200880803		TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chrX:120181770G>A	ENST00000328078.1	+	1	309	c.232G>A	c.(232-234)Gcc>Acc	p.A78T		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	78					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						CGATCGCGGCGCCAGCATCGT	0.642													G|||	1	0.000264901	0.0	0.0	3775	,	,		9449	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													90.0	75.0	80.0					X																	120181770		2203	4300	6503	-	-	-	SO:0001583	missense	0			U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.232G>A	X.37:g.120181770G>A	ENSP00000327589:p.Ala78Thr		B2R8G0|Q9UDQ4	Missense_Mutation	SNP	pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH	p.A78T	ENST00000328078.1	37	c.232	CCDS14603.1	X	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.57	3.652360	0.67472	.	.	ENSG00000182890	ENST00000328078	D	0.96745	-4.11	1.7	-0.189	0.13260	.	0.064947	0.64402	D	0.000012	D	0.91233	0.7237	L	0.47716	1.5	0.47621	D	0.99947	B	0.29805	0.257	B	0.17433	0.018	T	0.83019	-0.0168	10	0.59425	D	0.04	.	5.5331	0.16995	0.354:0.0:0.646:0.0	.	78	P49448	DHE4_HUMAN	T	78	ENSP00000327589:A78T	ENSP00000327589:A78T	A	+	1	0	GLUD2	120009451	1.000000	0.71417	0.017000	0.16124	0.830000	0.47004	3.473000	0.53122	-0.129000	0.11620	0.472000	0.43445	GCC	GLUD2	-	NULL	ENSG00000182890		0.642	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUD2	HGNC	protein_coding	OTTHUMT00000058133.1	71	0.00	0	G	NM_012084		120181770	120181770	+1	no_errors	ENST00000328078	ensembl	human	known	69_37n	missense	9	50.00	9	SNP	1.000	A
GRM7	2917	genome.wustl.edu	37	3	7188164	7188164	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr3:7188164C>T	ENST00000357716.4	+	2	819	c.545C>T	c.(544-546)aCg>aTg	p.T182M	GRM7_ENST00000389336.4_Missense_Mutation_p.T182M|GRM7_ENST00000403881.1_Missense_Mutation_p.T182M|GRM7_ENST00000486284.1_Missense_Mutation_p.T182M|GRM7_ENST00000402647.2_Missense_Mutation_p.T182M	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	182	Glutamate binding. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TATGCATCAACGGCACCCGAG	0.502																																						dbGAP											0													123.0	109.0	113.0					3																	7188164		2203	4300	6503	-	-	-	SO:0001583	missense	0			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.545C>T	3.37:g.7188164C>T	ENSP00000350348:p.Thr182Met		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.T182M	ENST00000357716.4	37	c.545	CCDS43042.1	3	.	.	.	.	.	.	.	.	.	.	C	19.22	3.784838	0.70222	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	5.74	5.74	0.90152	GPCR, family 3, conserved site (1);Extracellular ligand-binding receptor (1);	0.114252	0.64402	D	0.000019	D	0.96451	0.8842	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.996;0.999	D	0.97050	0.9763	10	0.87932	D	0	.	18.8612	0.92273	0.0:1.0:0.0:0.0	.	182;182;182	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	M	182	ENSP00000350348:T182M;ENSP00000417536:T182M;ENSP00000373987:T182M;ENSP00000385664:T182M;ENSP00000384585:T182M	ENSP00000350348:T182M	T	+	2	0	GRM7	7163164	1.000000	0.71417	0.949000	0.38748	0.083000	0.17756	7.776000	0.85560	2.873000	0.98535	0.563000	0.77884	ACG	GRM7	-	pfam_ANF_lig-bd_rcpt	ENSG00000196277		0.502	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	HGNC	protein_coding	OTTHUMT00000246895.3	95	0.00	0	C	NM_000844		7188164	7188164	+1	no_errors	ENST00000402647	ensembl	human	known	69_37n	missense	34	39.29	22	SNP	0.999	T
GRK7	131890	genome.wustl.edu	37	3	141499486	141499486	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr3:141499486T>C	ENST00000264952.2	+	2	1020	c.883T>C	c.(883-885)Ttt>Ctt	p.F295L		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	295	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CCGGGTGATCTTTTACTCGGC	0.562																																						dbGAP											0													99.0	91.0	94.0					3																	141499486		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.883T>C	3.37:g.141499486T>C	ENSP00000264952:p.Phe295Leu			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_GPCR_kinase,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom	p.F295L	ENST00000264952.2	37	c.883	CCDS3120.1	3	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688147	0.68271	.	.	ENSG00000114124	ENST00000264952	T	0.64991	-0.13	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.172850	0.52532	D	0.000071	T	0.57095	0.2030	L	0.41906	1.305	0.34697	D	0.726337	P	0.40534	0.72	B	0.40636	0.335	T	0.72191	-0.4365	10	0.72032	D	0.01	-14.8291	14.8761	0.70496	0.0:0.0:0.0:1.0	.	295	Q8WTQ7	GRK7_HUMAN	L	295	ENSP00000264952:F295L	ENSP00000264952:F295L	F	+	1	0	GRK7	142982176	1.000000	0.71417	0.999000	0.59377	0.930000	0.56654	3.235000	0.51328	1.909000	0.55274	0.533000	0.62120	TTT	GRK7	-	pfam_Prot_kinase_cat_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_cat_dom	ENSG00000114124		0.562	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK7	HGNC	protein_coding	OTTHUMT00000353168.1	124	0.00	0	T	NM_139209		141499486	141499486	+1	no_errors	ENST00000264952	ensembl	human	known	69_37n	missense	49	37.97	30	SNP	1.000	C
GTF3C1	2975	genome.wustl.edu	37	16	27497439	27497439	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr16:27497439T>G	ENST00000356183.4	-	24	3752	c.3737A>C	c.(3736-3738)tAc>tCc	p.Y1246S	GTF3C1_ENST00000561623.1_Missense_Mutation_p.Y1246S	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1246					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTCATCATGGTAGCGCAGCCT	0.562																																						dbGAP											0													218.0	202.0	207.0					16																	27497439		2197	4300	6497	-	-	-	SO:0001583	missense	0			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3737A>C	16.37:g.27497439T>G	ENSP00000348510:p.Tyr1246Ser		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.Y1246S	ENST00000356183.4	37	c.3737	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	T	19.38	3.815652	0.70912	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.24908	1.83	5.34	5.34	0.76211	.	0.141105	0.50627	D	0.000115	T	0.51686	0.1689	M	0.76574	2.34	0.44447	D	0.997374	D;D	0.89917	0.99;1.0	P;D	0.91635	0.797;0.999	T	0.55464	-0.8137	10	0.62326	D	0.03	-15.361	14.9813	0.71313	0.0:0.0:0.0:1.0	.	1246;1246	Q12789;Q12789-3	TF3C1_HUMAN;.	S	1246;1242	ENSP00000348510:Y1246S	ENSP00000348510:Y1246S	Y	-	2	0	GTF3C1	27404940	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	4.210000	0.58500	2.015000	0.59207	0.459000	0.35465	TAC	GTF3C1	-	NULL	ENSG00000077235		0.562	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	134	0.00	0	T	NM_001520		27497439	27497439	-1	no_errors	ENST00000356183	ensembl	human	known	69_37n	missense	71	15.48	13	SNP	1.000	G
KDM6A	7403	genome.wustl.edu	37	X	44894229	44894232	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	AAGT	AAGT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chrX:44894229_44894232delAAGT	ENST00000377967.4	+	7	659_660	c.618_619delAAGT	c.(616-621)gaaagt>gagt	p.S207fs	KDM6A_ENST00000536777.1_Splice_Site_p.S207fs|KDM6A_ENST00000382899.4_Splice_Site_p.S207fs|KDM6A_ENST00000543216.1_Splice_Site_p.S207fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	207	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0(12)|p.0?(6)|p.?(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CCAATGCTGAAAGTAAGTATTATT	0.333			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	dbGAP		Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	20	No detectable mRNA/protein(12)|Whole gene deletion(6)|Unknown(2)	haematopoietic_and_lymphoid_tissue(11)|oesophagus(4)|breast(2)|pancreas(2)|soft_tissue(1)																																								-	-	-	SO:0001630	splice_region_variant	0			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.619+1AAGT>-	X.37:g.44894233_44894236delAAGT			Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E206fs	ENST00000377967.4	37	c.618_619	CCDS14265.1	X																																																																																			KDM6A	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000147050		0.333	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	390	0.26	1	AAGT	NM_021140	Frame_Shift_Del	44894229	44894232	+1	no_errors	ENST00000382899	ensembl	human	known	69_37n	frame_shift_del	172	32.56	84	DEL	1.000:1.000	-
HDAC6	10013	genome.wustl.edu	37	X	48675747	48675747	+	Silent	SNP	T	T	A			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chrX:48675747T>A	ENST00000334136.5	+	20	1984	c.1806T>A	c.(1804-1806)gcT>gcA	p.A602A	HDAC6_ENST00000444343.2_Silent_p.A616A|HDAC6_ENST00000376619.2_Silent_p.A602A			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	602	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TGAATGGTGCTGCTGTGGTGC	0.527																																					Pancreas(112;205 1675 2305 8976 15959)	dbGAP											0													77.0	59.0	65.0					X																	48675747		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.1806T>A	X.37:g.48675747T>A			O94975|Q6NT75|Q7L3E5|Q96CY0	Silent	SNP	pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse	p.A616	ENST00000334136.5	37	c.1848	CCDS14306.1	X																																																																																			HDAC6	-	pfam_His_deacetylse_dom	ENSG00000094631		0.527	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	HGNC	protein_coding	OTTHUMT00000083394.2	132	0.75	1	T	NM_006044		48675747	48675747	+1	no_errors	ENST00000444343	ensembl	human	known	69_37n	silent	46	22.03	13	SNP	0.839	A
LARP4B	23185	genome.wustl.edu	37	10	875659	875659	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr10:875659G>A	ENST00000316157.3	-	9	917	c.877C>T	c.(877-879)Cga>Tga	p.R293*		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	293	RRM.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						ACTTCTTCTCGAAGGTATTTG	0.318																																						dbGAP											0													64.0	59.0	61.0					10																	875659		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.877C>T	10.37:g.875659G>A	ENSP00000326128:p.Arg293*		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Nonsense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.R293*	ENST00000316157.3	37	c.877	CCDS31131.1	10	.	.	.	.	.	.	.	.	.	.	G	31	5.067621	0.93898	.	.	ENSG00000107929	ENST00000316157	.	.	.	5.61	0.761	0.18448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.0686	15.1452	0.72643	0.0:0.0:0.246:0.754	.	.	.	.	X	293	.	ENSP00000326128:R293X	R	-	1	2	LARP4B	865659	0.633000	0.27181	0.897000	0.35233	0.799000	0.45148	0.885000	0.28227	0.351000	0.24027	-0.181000	0.13052	CGA	LARP4B	-	NULL	ENSG00000107929		0.318	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP4B	HGNC	protein_coding	OTTHUMT00000046395.2	96	0.00	0	G	NM_015155		875659	875659	-1	no_errors	ENST00000316157	ensembl	human	known	69_37n	nonsense	91	30.83	41	SNP	0.975	A
LIMK2	3985	genome.wustl.edu	37	22	31672776	31672777	+	Intron	INS	-	-	C	rs540206607	byFrequency	TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr22:31672776_31672777insC	ENST00000331728.4	+	15	1886				LIMK2_ENST00000333611.4_Intron|LIMK2_ENST00000467301.1_Intron|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000406516.1_Splice_Site_p.A514fs|LIMK2_ENST00000340552.4_Splice_Site_p.A571fs	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2						phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TACTTTCAGAGCCCCCCCCGGG	0.733													?|CCCCCCCC|CCCCCCCCC|unsure	14	0.00279553	0.0023	0.0	5008	,	,		7875	0.006		0.002	False		,,,				2504	0.0031					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1772+1482->C	22.37:g.31672784_31672784dupC			A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PP1_inhibitor,pfam_PDZ,pfam_Znf_LIM,superfamily_Kinase-like_dom,superfamily_PP1_inhibitor,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G574fs	ENST00000331728.4	37	c.1711_1712	CCDS13891.1	22																																																																																			LIMK2	-	smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000182541		0.733	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK2	HGNC	protein_coding	OTTHUMT00000321911.1	23	0.00	0	-	NM_016733		31672776	31672777	+1	no_errors	ENST00000340552	ensembl	human	putative	69_37n	frame_shift_ins	11	21.43	3	INS	0.995:0.996	C
LINC00200	399706	genome.wustl.edu	37	10	1209430	1209430	+	lincRNA	SNP	T	T	A	rs111563769	byFrequency	TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr10:1209430T>A	ENST00000425630.1	+	0	1252					NR_015376.2				long intergenic non-protein coding RNA 200																		CCGCTAGGCGTTATCAGGGAC	0.612																																						dbGAP											0																																										-	-	-			0			AK097673		10p15.3	2012-10-12	2011-08-11	2011-08-11	ENSG00000229205	ENSG00000229205		"""Long non-coding RNAs"""	30974	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 139"", ""non-protein coding RNA 200"""	C10orf139, NCRNA00200			Standard	NR_015376		Approved	FLJ40354	uc010qag.1		OTTHUMG00000017539		10.37:g.1209430T>A				RNA	SNP	-	NULL	ENST00000425630.1	37	NULL		10																																																																																			LINC00200	-	-	ENSG00000229205		0.612	LINC00200-001	KNOWN	basic	lincRNA	LINC00200	HGNC	lincRNA	OTTHUMT00000046417.2	9	0.00	0	T	NR_015376		1209430	1209430	+1	no_errors	ENST00000425630	ensembl	human	known	69_37n	rna	11	26.67	4	SNP	0.012	A
MMP9	4318	genome.wustl.edu	37	20	44637580	44637580	+	Silent	SNP	G	G	A			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr20:44637580G>A	ENST00000372330.3	+	1	34	c.15G>A	c.(13-15)caG>caA	p.Q5Q		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	5					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	GCCTCTGGCAGCCCCTGGTCC	0.632																																						dbGAP											0													40.0	39.0	40.0					20																	44637580		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.15G>A	20.37:g.44637580G>A			B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin	p.Q5	ENST00000372330.3	37	c.15	CCDS13390.1	20																																																																																			MMP9	-	NULL	ENSG00000100985		0.632	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP9	HGNC	protein_coding	OTTHUMT00000080337.1	70	0.00	0	G			44637580	44637580	+1	no_errors	ENST00000372330	ensembl	human	known	69_37n	silent	34	16.67	7	SNP	0.192	A
CMC4	100272147	genome.wustl.edu	37	X	154292281	154292281	+	Silent	SNP	C	C	T			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chrX:154292281C>T	ENST00000369484.3	-	2	696	c.18G>A	c.(16-18)ccG>ccA	p.P6P	MTCP1_ENST00000482244.1_5'Flank|CMC4_ENST00000369479.1_Silent_p.P6P	NM_001018024.2	NP_001018024.1	P56277	CMC4_HUMAN	C-x(9)-C motif containing 4	6					cell proliferation (GO:0008283)	mitochondrion (GO:0005739)											GCTTCTGGCACGGATCCTTCT	0.333																																						dbGAP											0													89.0	98.0	95.0					X																	154292281		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14764.1	Xq28	2013-10-18	2013-10-18	2012-10-15	ENSG00000182712	ENSG00000182712			35428	protein-coding gene	gene with protein product	"""mature T-cell proliferation 1, isoform p8"""		"""mature T-cell proliferation 1 neighbor"", ""C-x(9)-C motif containing 4 homolog (S. cerevisiae)"""	MTCP1, MTCP1NB		8361760, 9405159, 20922212	Standard	NM_001018024		Approved	P8MTCP1, p8	uc004fmy.3	P56277	OTTHUMG00000158504	ENST00000369484.3:c.18G>A	X.37:g.154292281C>T			Q5HYP9	Silent	SNP	pfam_MTCP1,superfamily_MTCP1	p.P6	ENST00000369484.3	37	c.18	CCDS14764.1	X																																																																																			MTCP1NB	-	pfam_MTCP1,superfamily_MTCP1	ENSG00000182712		0.333	CMC4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	MTCP1NB	HGNC	protein_coding	OTTHUMT00000037822.2	81	0.00	0	C	NM_001018024.2		154292281	154292281	-1	no_errors	ENST00000369479	ensembl	human	known	69_37n	silent	44	12.00	6	SNP	0.998	T
PGA3	643834	genome.wustl.edu	37	11	60975059	60975059	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr11:60975059C>T	ENST00000325558.6	+	4	613	c.428C>T	c.(427-429)aCa>aTa	p.T143I	PGA3_ENST00000543125.1_5'Flank	NM_001079807.1	NP_001073275.1	P0DJD8	PEPA3_HUMAN	pepsinogen 3, group I (pepsinogen A)	143					digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|lung(1)|ovary(1)|skin(2)	5						GGCAGCATGACAGGCATCCTC	0.582																																						dbGAP											0													1.0	1.0	1.0					11																	60975059		774	1025	1799	-	-	-	SO:0001583	missense	0			AL832946	CCDS31574.1	11q13	2006-12-13			ENSG00000229859	ENSG00000229859	3.4.23.1		8885	protein-coding gene	gene with protein product		169710				6300126	Standard	NM_001079807		Approved		uc001nqx.3	P0DJD8	OTTHUMG00000168071	ENST00000325558.6:c.428C>T	11.37:g.60975059C>T	ENSP00000322192:p.Thr143Ile		A8K749|B2R7D6|B7ZW75|P00790|Q7M4R0|Q8N1E3	Missense_Mutation	SNP	pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1	p.T143I	ENST00000325558.6	37	c.428	CCDS31574.1	11	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143040	0.37825	.	.	ENSG00000229859	ENST00000325558;ENST00000439843;ENST00000543609;ENST00000543349;ENST00000543505	T;T;T	0.58060	0.36;0.36;0.36	3.59	2.64	0.31445	.	0.517604	0.16625	N	0.206329	T	0.50292	0.1607	M	0.71036	2.16	0.22562	N	0.998983	B	0.29212	0.237	B	0.20577	0.03	T	0.49418	-0.8942	10	0.59425	D	0.04	.	13.2519	0.60055	0.0:0.5471:0.4529:0.0	.	143	F8WAB4	.	I	143;143;2;70;70	ENSP00000322192:T143I;ENSP00000442525:T70I;ENSP00000443732:T70I	ENSP00000322192:T143I	T	+	2	0	PGA3	60731635	0.718000	0.27976	0.048000	0.18961	0.580000	0.36256	1.386000	0.34419	0.825000	0.34637	0.305000	0.20034	ACA	PGA3	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic	ENSG00000229859		0.582	PGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGA3	HGNC	protein_coding	OTTHUMT00000397955.2	310	0.00	0	C	NM_001079807		60975059	60975059	+1	no_errors	ENST00000325558	ensembl	human	known	69_37n	missense	141	22.95	42	SNP	0.292	T
PLEC	5339	genome.wustl.edu	37	8	144995814	144995814	+	Silent	SNP	C	C	T			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr8:144995814C>T	ENST00000322810.4	-	32	8755	c.8586G>A	c.(8584-8586)acG>acA	p.T2862T	PLEC_ENST00000354958.2_Silent_p.T2703T|PLEC_ENST00000356346.3_Silent_p.T2711T|PLEC_ENST00000354589.3_Silent_p.T2725T|PLEC_ENST00000398774.2_Silent_p.T2693T|PLEC_ENST00000436759.2_Silent_p.T2752T|PLEC_ENST00000527096.1_Silent_p.T2748T|PLEC_ENST00000357649.2_Silent_p.T2729T|PLEC_ENST00000345136.3_Silent_p.T2725T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2862	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGATGAGGGCCGTGCCGGGAC	0.662																																						dbGAP											0													29.0	34.0	32.0					8																	144995814		2091	4202	6293	-	-	-	SO:0001819	synonymous_variant	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8586G>A	8.37:g.144995814C>T			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.T2862	ENST00000322810.4	37	c.8586	CCDS43772.1	8																																																																																			PLEC	-	pfam_Plectin_repeat,smart_Plectin_repeat	ENSG00000178209		0.662	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	46	0.00	0	C	NM_000445		144995814	144995814	-1	no_errors	ENST00000322810	ensembl	human	known	69_37n	silent	76	10.59	9	SNP	0.051	T
RBMX	27316	genome.wustl.edu	37	X	135960146	135960147	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chrX:135960146_135960147insAA	ENST00000320676.7	-	4	469_470	c.315_316insTT	c.(313-318)cctccafs	p.P106fs	RBMX_ENST00000431446.3_Intron|RBMX_ENST00000570135.1_Intron|RBMX_ENST00000565438.1_5'UTR|RBMX_ENST00000562646.1_Frame_Shift_Ins_p.P106fs|SNORD61_ENST00000384252.1_RNA	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	106					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P106fs*32(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					AGACCTCTTGGAGGGCCTCTAC	0.535																																						dbGAP											1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)																																								-	-	-	SO:0001589	frameshift_variant	0				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.315_316insTT	X.37:g.135960146_135960147insAA	ENSP00000359645:p.Pro106fs		B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Frame_Shift_Ins	INS	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.P105fs	ENST00000320676.7	37	c.316_315	CCDS14661.1	X																																																																																			RBMX	-	NULL	ENSG00000147274		0.535	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX	HGNC	protein_coding	OTTHUMT00000058507.1	138	0.00	0	-	NM_002139		135960146	135960147	-1	no_errors	ENST00000320676	ensembl	human	known	69_37n	frame_shift_ins	62	10.14	7	INS	1.000:1.000	AA
RPS6KB1	6198	genome.wustl.edu	37	17	57987923	57987923	+	Splice_Site	SNP	G	G	A			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr17:57987923G>A	ENST00000225577.4	+	2	163	c.142G>A	c.(142-144)Ggt>Agt	p.G48S	RPS6KB1_ENST00000393021.3_5'UTR|RPS6KB1_ENST00000443572.2_Splice_Site_p.G48S|RPS6KB1_ENST00000406116.3_Splice_Site_p.G48S	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	48					aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			TATTTTTCAGGGTCAGTTAAA	0.294																																						dbGAP											0													97.0	94.0	95.0					17																	57987923		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"""ribosomal protein S6 kinase, 70kD, polypeptide 1"""	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.142-1G>A	17.37:g.57987923G>A			B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom	p.G48S	ENST00000225577.4	37	c.142	CCDS11621.1	17	.	.	.	.	.	.	.	.	.	.	G	16.04	3.008744	0.54361	.	.	ENSG00000108443	ENST00000443572;ENST00000406116;ENST00000225577	T;T;T	0.70399	-0.48;-0.23;-0.28	5.55	5.55	0.83447	.	0.149568	0.64402	D	0.000013	T	0.62405	0.2425	L	0.34521	1.04	0.80722	D	1	B;B;B	0.11235	0.004;0.001;0.003	B;B;B	0.12156	0.007;0.004;0.007	T	0.55860	-0.8074	9	.	.	.	.	19.0954	0.93248	0.0:0.0:1.0:0.0	.	48;48;48	F6UYM1;Q7Z721;P23443	.;.;KS6B1_HUMAN	S	48	ENSP00000441993:G48S;ENSP00000384335:G48S;ENSP00000225577:G48S	.	G	+	1	0	RPS6KB1	55342705	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.294000	0.78760	2.606000	0.88127	0.491000	0.48974	GGT	RPS6KB1	-	pirsf_Ribosomal_S6_kinase	ENSG00000108443		0.294	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KB1	HGNC	protein_coding	OTTHUMT00000319324.1	202	0.00	0	G	NM_003161	Missense_Mutation	57987923	57987923	+1	no_errors	ENST00000225577	ensembl	human	known	69_37n	missense	78	47.30	70	SNP	1.000	A
SERAC1	84947	genome.wustl.edu	37	6	158535820	158535821	+	Splice_Site	DEL	CC	CC	-			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	CC	CC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr6:158535820_158535821delCC	ENST00000367104.3	-	15	1815_1816	c.1684_1685delGG	c.(1684-1686)ggt>t	p.G562fs	SERAC1_ENST00000367101.1_3'UTR|SERAC1_ENST00000367102.2_3'UTR	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	562					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AAAAGTATTACCCTTGCTGAGT	0.342																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.1684+1GG>-	6.37:g.158535820_158535821delCC			Q49AT1|Q5VTX3|Q6PKF3	Frame_Shift_Del	DEL	pfam_PGAP1-like,superfamily_ARM-type_fold	p.D562fs	ENST00000367104.3	37	c.1685_1684	CCDS5255.1	6																																																																																			SERAC1	-	NULL	ENSG00000122335		0.342	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERAC1	HGNC	protein_coding	OTTHUMT00000042862.1	139	0.00	0	CC	NM_032861	Frame_Shift_Del	158535820	158535821	-1	no_errors	ENST00000367104	ensembl	human	known	69_37n	frame_shift_del	99	19.51	24	DEL	1.000:0.904	-
TP53	7157	genome.wustl.edu	37	17	7579432	7579433	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr17:7579432_7579433insG	ENST00000269305.4	-	4	443_444	c.254_255insC	c.(253-255)cctfs	p.P85fs	TP53_ENST00000420246.2_Frame_Shift_Ins_p.P85fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.P85fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P85fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P85fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P85fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	85	Interaction with WWOX.		P -> L (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.A76_S90del15(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.A86fs*59(1)|p.P85fs*63(1)|p.P85fs*58(1)|p.A86fs*34(1)|p.D48fs*55(1)|p.A86fs*32(1)|p.P85fs*59(1)|p.A79_A88del10(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.P85L(1)|p.A86fs*64(1)|p.A83fs*35(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGGCTGGTGCAGGGGCCGCCGG	0.624		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	28	Deletion - Frameshift(14)|Whole gene deletion(8)|Deletion - In frame(4)|Substitution - Missense(1)|Insertion - Frameshift(1)	upper_aerodigestive_tract(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|lung(3)|ovary(3)|central_nervous_system(2)|breast(2)|stomach(1)|skin(1)|prostate(1)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.255dupC	17.37:g.7579436_7579436dupG	ENSP00000269305:p.Pro85fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.A86fs	ENST00000269305.4	37	c.255_254	CCDS11118.1	17																																																																																			TP53	-	NULL	ENSG00000141510		0.624	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	51	0.00	0	-	NM_000546		7579432	7579433	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_ins	11	67.65	23	INS	0.024:0.243	G
TTN	7273	genome.wustl.edu	37	2	179581989	179581989	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr2:179581989T>G	ENST00000591111.1	-	86	24745	c.24521A>C	c.(24520-24522)aAa>aCa	p.K8174T	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.K8491T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K7247T			Q8WZ42	TITIN_HUMAN	titin	12358	Ig-like 64.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCGGTTATCTTTGGCCCAAGT	0.443																																						dbGAP											0													74.0	75.0	75.0					2																	179581989		1892	4116	6008	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24521A>C	2.37:g.179581989T>G	ENSP00000465570:p.Lys8174Thr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.K7247T	ENST00000591111.1	37	c.21740		2	.	.	.	.	.	.	.	.	.	.	T	9.957	1.221764	0.22457	.	.	ENSG00000155657	ENST00000342992	T	0.54479	0.57	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73164	0.3552	M	0.90650	3.135	0.80722	D	1	D	0.64830	0.994	P	0.61477	0.889	T	0.78904	-0.2020	9	0.87932	D	0	.	10.6506	0.45647	0.0:0.0809:0.0:0.9191	.	8174	Q8WZ42	TITIN_HUMAN	T	7247	ENSP00000343764:K7247T	ENSP00000343764:K7247T	K	-	2	0	TTN	179290234	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	4.907000	0.63300	2.216000	0.71823	0.533000	0.62120	AAA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000155657		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	100	0.00	0	T	NM_133378		179581989	179581989	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	15	65.91	29	SNP	1.000	G
UBA7	7318	genome.wustl.edu	37	3	49845239	49845239	+	Missense_Mutation	SNP	C	C	T	rs545334951		TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr3:49845239C>T	ENST00000333486.3	-	21	2803	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	882					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)	p.R882H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GTAGCTGTGGCGAAAGGCACT	0.572													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21333	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	endometrium(1)											117.0	119.0	118.0					3																	49845239		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.2645G>A	3.37:g.49845239C>T	ENSP00000333266:p.Arg882His		Q9BRB2	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.R882H	ENST00000333486.3	37	c.2645	CCDS2805.1	3	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952228	0.73787	.	.	ENSG00000182179	ENST00000333486	T	0.45276	0.9	4.95	4.95	0.65309	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-activating enzyme e1, C-terminal (1);	0.116073	0.64402	D	0.000011	T	0.58524	0.2128	M	0.76574	2.34	0.50813	D	0.999896	D	0.61697	0.99	P	0.54889	0.763	T	0.64019	-0.6505	10	0.87932	D	0	-21.8344	16.4847	0.84181	0.0:1.0:0.0:0.0	.	882	P41226	UBA7_HUMAN	H	882	ENSP00000333266:R882H	ENSP00000333266:R882H	R	-	2	0	UBA7	49820243	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	2.976000	0.49289	2.744000	0.94065	0.561000	0.74099	CGC	UBA7	-	pfam_Ub-activating_enz_e1_C,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1	ENSG00000182179		0.572	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA7	HGNC	protein_coding	OTTHUMT00000350503.1	115	0.00	0	C	NM_003335		49845239	49845239	-1	no_errors	ENST00000333486	ensembl	human	known	69_37n	missense	45	27.42	17	SNP	1.000	T
UBTF	7343	genome.wustl.edu	37	17	42290592	42290592	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr17:42290592C>T	ENST00000302904.4	-	6	1025	c.533G>A	c.(532-534)cGa>cAa	p.R178Q	UBTF_ENST00000436088.1_Missense_Mutation_p.R178Q|UBTF_ENST00000529383.1_Missense_Mutation_p.R178Q|UBTF_ENST00000343638.5_Missense_Mutation_p.R178Q|UBTF_ENST00000393606.3_Missense_Mutation_p.R178Q|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000537550.1_5'Flank|UBTF_ENST00000526094.1_Missense_Mutation_p.R178Q|UBTF_ENST00000533177.1_Missense_Mutation_p.R178Q|UBTF_ENST00000527034.1_Missense_Mutation_p.R178Q			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	178					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TTACCTGAATCGGGCCAGGTT	0.582																																						dbGAP											0													80.0	75.0	77.0					17																	42290592		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.533G>A	17.37:g.42290592C>T	ENSP00000302640:p.Arg178Gln		A8K6R8	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_ARM-type_fold,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R178Q	ENST00000302904.4	37	c.533	CCDS11480.1	17	.	.	.	.	.	.	.	.	.	.	c	12.86	2.064653	0.36470	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383	D;D;D;D;D;D;D;D	0.98012	-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66	5.0	5.0	0.66597	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.066900	0.64402	D	0.000015	D	0.95137	0.8424	N	0.05124	-0.11	0.36524	D	0.870332	D;P;D	0.63046	0.992;0.826;0.982	P;B;P	0.59546	0.859;0.243;0.791	D	0.94024	0.7295	10	0.24483	T	0.36	-8.9314	11.895	0.52652	0.0:0.9191:0.0:0.0809	.	178;178;178	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	Q	178	ENSP00000345297:R178Q;ENSP00000302640:R178Q;ENSP00000431539:R178Q;ENSP00000437180:R178Q;ENSP00000390669:R178Q;ENSP00000377231:R178Q;ENSP00000432925:R178Q;ENSP00000435708:R178Q	ENSP00000302640:R178Q	R	-	2	0	UBTF	39646118	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	2.333000	0.43912	2.757000	0.94681	0.655000	0.94253	CGA	UBTF	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_ARM-type_fold,smart_HMG_superfamily,pfscan_HMG_superfamily	ENSG00000108312		0.582	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBTF	HGNC	protein_coding	OTTHUMT00000395205.1	109	0.91	1	C	NM_014233		42290592	42290592	-1	no_errors	ENST00000302904	ensembl	human	known	69_37n	missense	39	38.10	24	SNP	0.993	T
USP8	9101	genome.wustl.edu	37	15	50741617	50741617	+	Silent	SNP	T	T	G			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr15:50741617T>G	ENST00000396444.3	+	4	608	c.270T>G	c.(268-270)ctT>ctG	p.L90L	USP8_ENST00000425032.3_Intron|USP8_ENST00000433963.1_Silent_p.L90L|USP8_ENST00000307179.4_Silent_p.L90L	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	90	MIT.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATTCAATACTTGGACCTGGAA	0.303																																						dbGAP											0													46.0	50.0	49.0					15																	50741617		2192	4292	6484	-	-	-	SO:0001819	synonymous_variant	0			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.270T>G	15.37:g.50741617T>G			B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	pfam_DUF1873	p.L42W	ENST00000396444.3	37	c.125	CCDS10137.1	15																																																																																			USP8	-	NULL	ENSG00000138592		0.303	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1	109	0.00	0	T	NM_005154		50741617	50741617	+1	no_errors	ENST00000559242	ensembl	human	known	69_37n	missense	34	46.88	30	SNP	1.000	G
XKR4	114786	genome.wustl.edu	37	8	56435983	56435983	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr8:56435983G>A	ENST00000327381.6	+	3	1250	c.1150G>A	c.(1150-1152)Gcc>Acc	p.A384T	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	384						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CTTCACCATCGCCGCCAGGGT	0.552																																						dbGAP											0													300.0	233.0	256.0					8																	56435983		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1150G>A	8.37:g.56435983G>A	ENSP00000328326:p.Ala384Thr		Q96PZ8	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.A384T	ENST00000327381.6	37	c.1150	CCDS34893.1	8	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008417	0.75046	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.63096	-0.02	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.71316	0.3325	L	0.37697	1.125	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.64765	-0.6330	10	0.20046	T	0.44	-15.5128	19.531	0.95230	0.0:0.0:1.0:0.0	.	384	Q5GH76	XKR4_HUMAN	T	384	ENSP00000328326:A384T	ENSP00000328326:A384T	A	+	1	0	XKR4	56598537	1.000000	0.71417	0.966000	0.40874	0.981000	0.71138	7.863000	0.87023	2.614000	0.88457	0.557000	0.71058	GCC	XKR4	-	pfam_Transport_prot_XK	ENSG00000206579		0.552	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	412	0.24	1	G	NM_052898		56435983	56435983	+1	no_errors	ENST00000327381	ensembl	human	known	69_37n	missense	635	11.14	80	SNP	1.000	A
XPC	7508	genome.wustl.edu	37	3	14190419	14190419	+	Silent	SNP	C	C	T			TCGA-E2-A1LK-01A-21D-A14G-09	TCGA-E2-A1LK-11A-12D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9	a115510a-b18f-43ae-82a8-ec0b4f1a7482	g.chr3:14190419C>T	ENST00000285021.7	-	12	2359	c.2145G>A	c.(2143-2145)cgG>cgA	p.R715R	XPC_ENST00000449060.2_Silent_p.R678R|AC093495.4_ENST00000420253.1_RNA|AC093495.4_ENST00000428681.3_RNA	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	715	DNA-binding; preference for heteroduplex DNA.|Interaction with RAD23B.|Minimal sensor domain involved in damage recognition.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTCGGGCTTTCCGAGCACGGT	0.592			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													dbGAP	yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""xeroderma pigmentosum, complementation group C"""		E	0													69.0	73.0	71.0					3																	14190419		1993	4171	6164	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.2145G>A	3.37:g.14190419C>T			B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Silent	SNP	pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr	p.R715	ENST00000285021.7	37	c.2145	CCDS46763.1	3																																																																																			XPC	-	pfam_Rad4_beta-hairpin_dom2,tigrfam_DNA_repair_Rad4_subgr	ENSG00000154767		0.592	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XPC	HGNC	protein_coding	OTTHUMT00000340517.3	80	0.00	0	C	NM_004628		14190419	14190419	-1	no_errors	ENST00000285021	ensembl	human	known	69_37n	silent	28	24.32	9	SNP	0.990	T
