#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACACA	31	genome.wustl.edu	37	17	35641834	35641834	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr17:35641834G>A	ENST00000394406.2	-	4	455	c.265C>T	c.(265-267)Cga>Tga	p.R89*	ACACA_ENST00000353139.5_Nonsense_Mutation_p.R126*|ACACA_ENST00000360679.3_Nonsense_Mutation_p.R31*|ACACA_ENST00000335166.5_Nonsense_Mutation_p.R11*|ACACA_ENST00000416895.1_3'UTR	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	89				R -> G (in Ref. 1; AAC50139). {ECO:0000305}.	acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.R126*(1)|p.R31*(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTTCTGTCTCGGCCCTGCTTT	0.418																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	dbGAP											2	Substitution - Nonsense(2)	breast(2)											112.0	115.0	114.0					17																	35641834		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.265C>T	17.37:g.35641834G>A	ENSP00000377928:p.Arg89*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Nonsense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.R126*	ENST00000394406.2	37	c.376	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	G	38	6.702406	0.97776	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000456066;ENST00000394403;ENST00000451642;ENST00000413318	.	.	.	5.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3609	15.995	0.80232	0.0:0.0:0.8651:0.1349	.	.	.	.	X	126;31;89;113;11;11;11;89;11	.	ENSP00000335323:R11X	R	-	1	2	ACACA	32715947	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.099000	0.50267	2.655000	0.90218	0.650000	0.86243	CGA	ACACA	-	superfamily_PreATP-grasp_fold	ENSG00000132142		0.418	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	311	0.00	0	G	NM_198836		35641834	35641834	-1	no_errors	ENST00000353139	ensembl	human	known	69_37n	nonsense	202	21.62	56	SNP	1.000	A
ADAM29	11086	genome.wustl.edu	37	4	175897349	175897349	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr4:175897349C>A	ENST00000359240.3	+	5	1343	c.673C>A	c.(673-675)Cta>Ata	p.L225I	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.L225I|ADAM29_ENST00000445694.1_Missense_Mutation_p.L225I|ADAM29_ENST00000514159.1_Missense_Mutation_p.L225I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	225	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L225I(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GCTGGAGGATCTATATGTTAT	0.353																																					Ovarian(140;1727 1835 21805 25838 41440)	dbGAP											1	Substitution - Missense(1)	breast(1)											89.0	91.0	90.0					4																	175897349		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.673C>A	4.37:g.175897349C>A	ENSP00000352177:p.Leu225Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.L225I	ENST00000359240.3	37	c.673	CCDS3823.1	4	.	.	.	.	.	.	.	.	.	.	C	7.925	0.739399	0.15642	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	3.74	-7.06	0.01568	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	1.227530	0.06635	U	0.760019	T	0.31231	0.0790	N	0.16307	0.4	0.09310	N	1	P	0.37207	0.587	B	0.38225	0.268	T	0.22695	-1.0209	9	.	.	.	.	0.9201	0.01313	0.2307:0.1521:0.343:0.2742	.	225	Q9UKF5	ADA29_HUMAN	I	225	ENSP00000352177:L225I;ENSP00000414544:L225I;ENSP00000384229:L225I;ENSP00000423517:L225I	.	L	+	1	2	ADAM29	176133924	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.174000	0.01264	-1.840000	0.01184	-1.078000	0.02229	CTA	ADAM29	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000168594		0.353	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ADAM29	HGNC	protein_coding		219	0.00	0	C			175897349	175897349	+1	no_errors	ENST00000359240	ensembl	human	known	69_37n	missense	131	19.63	32	SNP	0.000	A
ADAMTS20	80070	genome.wustl.edu	37	12	43824186	43824186	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr12:43824186C>T	ENST00000389420.3	-	23	3349	c.3350G>A	c.(3349-3351)tGc>tAc	p.C1117Y	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.C1117Y|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.C271Y	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1117	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C1117Y(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGCTTCATGGCATTCTGTGTC	0.388																																						dbGAP											1	Substitution - Missense(1)	breast(1)											157.0	134.0	142.0					12																	43824186		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3350G>A	12.37:g.43824186C>T	ENSP00000374071:p.Cys1117Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.C1117Y	ENST00000389420.3	37	c.3350	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	c	17.33	3.362514	0.61403	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.72835	-0.39;-0.69;-0.69;-0.39	5.28	5.28	0.74379	.	0.000000	0.56097	D	0.000034	D	0.92410	0.7591	H	0.99794	4.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95525	0.8598	10	0.87932	D	0	.	19.8398	0.96678	0.0:1.0:0.0:0.0	.	1117;271	P59510;E9PBD5	ATS20_HUMAN;.	Y	1117;283;271;1117;1117	ENSP00000374071:C1117Y;ENSP00000447427:C283Y;ENSP00000378911:C271Y;ENSP00000448341:C1117Y	ENSP00000374068:C1117Y	C	-	2	0	ADAMTS20	42110453	1.000000	0.71417	0.903000	0.35520	0.163000	0.22366	5.483000	0.66838	2.864000	0.98301	0.550000	0.68814	TGC	ADAMTS20	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000173157		0.388	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	67	0.00	0	C	NM_025003		43824186	43824186	-1	no_errors	ENST00000389420	ensembl	human	known	69_37n	missense	49	22.22	14	SNP	1.000	T
ARMCX2	9823	genome.wustl.edu	37	X	100910988	100910988	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chrX:100910988C>G	ENST00000328766.5	-	5	2040	c.1587G>C	c.(1585-1587)ttG>ttC	p.L529F	ARMCX2_ENST00000330154.2_Missense_Mutation_p.L529F|ARMCX2_ENST00000356824.4_Missense_Mutation_p.L529F|ARMCX2_ENST00000467416.1_5'Flank	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	529						integral component of membrane (GO:0016021)		p.L529F(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						AAAGGATTTTCAAAATCTCAA	0.383																																						dbGAP											1	Substitution - Missense(1)	breast(1)											84.0	85.0	85.0					X																	100910988		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1587G>C	X.37:g.100910988C>G	ENSP00000331662:p.Leu529Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O60267|Q5H9D9	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo	p.L529F	ENST00000328766.5	37	c.1587	CCDS14490.1	X	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097954	0.37048	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.55413	0.52;0.52;0.52	4.1	3.23	0.37069	Armadillo-like helical (1);Armadillo-type fold (1);	0.074114	0.56097	D	0.000038	T	0.65709	0.2717	M	0.68952	2.095	0.48040	D	0.999573	D	0.89917	1.0	D	0.87578	0.998	T	0.66333	-0.5950	10	0.87932	D	0	-4.7885	7.196	0.25853	0.0:0.8756:0.0:0.1244	.	529	Q7L311	ARMX2_HUMAN	F	529	ENSP00000331662:L529F;ENSP00000328631:L529F;ENSP00000349281:L529F	ENSP00000331662:L529F	L	-	3	2	ARMCX2	100797644	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	1.166000	0.31834	1.058000	0.40530	0.422000	0.28245	TTG	ARMCX2	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	ENSG00000184867		0.383	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX2	HGNC	protein_coding	OTTHUMT00000057586.1	385	0.00	0	C	NM_014782		100910988	100910988	-1	no_errors	ENST00000328766	ensembl	human	known	69_37n	missense	417	18.29	94	SNP	1.000	G
ASCC3	10973	genome.wustl.edu	37	6	101073157	101073157	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr6:101073157G>A	ENST00000369162.2	-	30	5040	c.4696C>T	c.(4696-4698)Cgt>Tgt	p.R1566C		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1566	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.R1566C(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CGAGTTTGACGTCTTGATGAG	0.403																																						dbGAP											1	Substitution - Missense(1)	breast(1)											110.0	105.0	106.0					6																	101073157		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.4696C>T	6.37:g.101073157G>A	ENSP00000358159:p.Arg1566Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R1566C	ENST00000369162.2	37	c.4696	CCDS5046.1	6	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056833	0.76074	.	.	ENSG00000112249	ENST00000369162	T	0.80393	-1.37	5.87	4.99	0.66335	Helicase, C-terminal (1);	0.056908	0.64402	D	0.000002	D	0.92925	0.7749	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.95840	0.8865	10	0.87932	D	0	.	16.448	0.83947	0.0:0.0:0.8676:0.1324	.	1566	Q8N3C0	HELC1_HUMAN	C	1566	ENSP00000358159:R1566C	ENSP00000358159:R1566C	R	-	1	0	ASCC3	101179878	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.483000	0.60264	1.469000	0.48083	0.585000	0.79938	CGT	ASCC3	-	pfscan_Helicase_C	ENSG00000112249		0.403	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCC3	HGNC	protein_coding	OTTHUMT00000041632.2	86	0.00	0	G	NM_006828		101073157	101073157	-1	no_errors	ENST00000369162	ensembl	human	known	69_37n	missense	86	28.93	35	SNP	1.000	A
ASH1L	55870	genome.wustl.edu	37	1	155451295	155451295	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr1:155451295G>C	ENST00000368346.3	-	3	2005	c.1366C>G	c.(1366-1368)Ctg>Gtg	p.L456V	ASH1L_ENST00000392403.3_Missense_Mutation_p.L456V|ASH1L_ENST00000548830.1_3'UTR			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	456					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.L456V(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTATCTTTCAGGGATTCAGAA	0.388																																						dbGAP											1	Substitution - Missense(1)	breast(1)											63.0	60.0	61.0					1																	155451295		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.1366C>G	1.37:g.155451295G>C	ENSP00000357330:p.Leu456Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.L456V	ENST00000368346.3	37	c.1366		1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914440	0.52546	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.90444	-2.67;-2.67	5.08	-2.26	0.06867	.	0.427001	0.19520	N	0.112309	T	0.62732	0.2452	N	0.14661	0.345	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.50180	-0.8858	10	0.72032	D	0.01	.	1.6435	0.02757	0.1972:0.1295:0.4189:0.2544	.	456;456	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	V	456	ENSP00000357330:L456V;ENSP00000376204:L456V	ENSP00000357330:L456V	L	-	1	2	ASH1L	153717919	0.846000	0.29590	0.962000	0.40283	0.984000	0.73092	-0.085000	0.11250	-0.502000	0.06596	-0.274000	0.10170	CTG	ASH1L	-	NULL	ENSG00000116539		0.388	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	219	0.00	0	G	NM_018489		155451295	155451295	-1	no_errors	ENST00000368346	ensembl	human	known	69_37n	missense	200	23.95	63	SNP	0.908	C
ATRX	546	genome.wustl.edu	37	X	76912112	76912112	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chrX:76912112A>T	ENST00000373344.5	-	13	4366	c.4152T>A	c.(4150-4152)ttT>ttA	p.F1384L	ATRX_ENST00000395603.3_Missense_Mutation_p.F1346L|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1384					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.F1384L(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTGATTCCTGAAAATCAGAAT	0.279			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															dbGAP		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	3	Substitution - Missense(2)|Unknown(1)	breast(2)|bone(1)											61.0	55.0	57.0					X																	76912112		2203	4296	6499	-	-	-	SO:0001583	missense	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4152T>A	X.37:g.76912112A>T	ENSP00000362441:p.Phe1384Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.F1384L	ENST00000373344.5	37	c.4152	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	A	15.53	2.860834	0.51482	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.94232	-3.38;-3.38	5.34	2.96	0.34315	.	0.073354	0.53938	U	0.000044	D	0.93546	0.7940	M	0.64997	1.995	0.80722	D	1	D;D;D	0.71674	0.998;0.99;0.965	D;D;B	0.75484	0.986;0.979;0.444	D	0.89642	0.3863	10	0.11182	T	0.66	-10.2722	4.3466	0.11136	0.581:0.1627:0.2563:0.0	.	1316;1346;1384	P46100-6;P46100-4;P46100	.;.;ATRX_HUMAN	L	1384;1346;1311	ENSP00000362441:F1384L;ENSP00000378967:F1346L	ENSP00000362441:F1384L	F	-	3	2	ATRX	76798768	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.446000	0.35090	0.672000	0.31204	0.441000	0.28932	TTT	ATRX	-	NULL	ENSG00000085224		0.279	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	297	0.00	0	A	NM_000489		76912112	76912112	-1	no_errors	ENST00000373344	ensembl	human	known	69_37n	missense	195	35.64	108	SNP	1.000	T
ATP7A	538	genome.wustl.edu	37	X	77289124	77289124	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chrX:77289124G>C	ENST00000341514.6	+	17	3471	c.3316G>C	c.(3316-3318)Ggt>Cgt	p.G1106R	ATP7A_ENST00000343533.5_Missense_Mutation_p.G1028R|ATP7A_ENST00000350425.4_Missense_Mutation_p.G109R	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1106					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)	p.G1106C(2)|p.G1106R(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TGAAACCTTGGGTACCTGCAT	0.403																																						dbGAP											4	Substitution - Missense(4)	lung(2)|breast(2)											98.0	88.0	92.0					X																	77289124		2203	4296	6499	-	-	-	SO:0001583	missense	0			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.3316G>C	X.37:g.77289124G>C	ENSP00000345728:p.Gly1106Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.G1106R	ENST00000341514.6	37	c.3316	CCDS35339.1	X	.	.	.	.	.	.	.	.	.	.	G	33	5.249807	0.95305	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	D;D;D	0.85484	-1.99;-1.99;-1.99	5.75	5.75	0.90469	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.89935	0.6859	L	0.41632	1.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90835	0.4719	10	0.87932	D	0	-4.4926	18.9477	0.92628	0.0:0.0:1.0:0.0	.	1106	Q04656	ATP7A_HUMAN	R	1028;109;1106	ENSP00000343026:G1028R;ENSP00000343678:G109R;ENSP00000345728:G1106R	ENSP00000345728:G1106R	G	+	1	0	ATP7A	77175780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.752000	0.98900	2.423000	0.82170	0.597000	0.82753	GGT	ATP7A	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_heavy-metal	ENSG00000165240		0.403	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7A	HGNC	protein_coding	OTTHUMT00000057306.1	223	0.00	0	G	NM_000052		77289124	77289124	+1	no_errors	ENST00000341514	ensembl	human	known	69_37n	missense	212	16.86	43	SNP	1.000	C
ATXN1	6310	genome.wustl.edu	37	6	16327913	16327915	+	In_Frame_Del	DEL	TGA	TGA	-	rs11969612|rs369629396	byFrequency	TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	TGA	TGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr6:16327913_16327915delTGA	ENST00000244769.4	-	8	1563_1565	c.627_629delTCA	c.(625-630)catcag>cag	p.H209del	ATXN1_ENST00000436367.1_In_Frame_Del_p.H209del	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	209	Poly-Gln.		H -> Q (in dbSNP:rs11969612).		adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.H209delH(2)|p.H209_H211delHQH(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ctgctgatgctgatgctgctgct	0.665																																						dbGAP											3	Deletion - In frame(3)	upper_aerodigestive_tract(1)|large_intestine(1)|prostate(1)							,|,	615,313,2022|637,2259		169,39,238,43,188,798|112,413,923					,|,		0.0|0.0		dbSNP_130	7|7	1006,693,4879|752,5866		252,19,483,15,644,1876|24,704,2581	no|no	codingComplex,codingComplex|coding,coding	ATXN1|ATXN1	NM_001128164.1,NM_000332.3|NM_001128164.1,NM_000332.3	,|,	421,58,721,58,832,2674|136,1117,3504	A1A1,A1A2,A1R,A2A2,A2R,RR|A1A1,A1R,RR		25.8285,31.4576,27.5714|11.3629,21.9959,14.5995	,|,	,|,		1621,1006,6901|1389,8125				-	-	-	SO:0001651	inframe_deletion	0			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.627_629delTCA	6.37:g.16327913_16327915delTGA	ENSP00000244769:p.His209del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Del	DEL	pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1	p.H209in_frame_del	ENST00000244769.4	37	c.629_627	CCDS34342.1	6																																																																																			ATXN1	-	NULL	ENSG00000124788		0.665	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN1	HGNC	protein_coding	OTTHUMT00000039943.3	8	0.00	0	TGA	NM_000332		16327913	16327915	-1	no_errors	ENST00000244769	ensembl	human	known	69_37n	in_frame_del	5	37.50	3	DEL	0.021:0.019:0.017	-
CAD	790	genome.wustl.edu	37	2	27456981	27456982	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr2:27456981_27456982insC	ENST00000403525.1	+	21	3460_3461	c.3316_3317insC	c.(3316-3318)accfs	p.T1106fs	CAD_ENST00000264705.4_Frame_Shift_Ins_p.T1169fs			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACGCTGGTGACCCCCCCACAA	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3323dupC	2.37:g.27456988_27456988dupC	ENSP00000384510:p.Thr1106fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Frame_Shift_Ins	INS	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf_euk,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf_euk	p.Q1172fs	ENST00000403525.1	37	c.3505_3506		2																																																																																			CAD	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu	ENSG00000084774		0.574	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	36	0.00	0	-			27456981	27456982	+1	no_errors	ENST00000264705	ensembl	human	known	69_37n	frame_shift_ins	36	10.00	4	INS	1.000:1.000	C
CD99	4267	genome.wustl.edu	37	X	2641359	2641359	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chrX:2641359A>T	ENST00000381192.3	+	7	497	c.315A>T	c.(313-315)aaA>aaT	p.K105N	CD99_ENST00000381187.3_Missense_Mutation_p.K89N|CD99_ENST00000482405.2_3'UTR|CD99_ENST00000381184.1_Missense_Mutation_p.K105N	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	105					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.K105N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						TTGCAGGAAAAGGAGGCAGTG	0.532																																						dbGAP											1	Substitution - Missense(1)	breast(1)											351.0	330.0	337.0					X																	2641359		2203	4296	6499	-	-	-	SO:0001583	missense	0			M16279	CCDS14119.1, CCDS48071.1, CCDS75947.1	Xp22.32 and Yp11.3	2012-10-02	2006-03-28	2003-02-14	ENSG00000002586	ENSG00000002586		"""Pseudoautosomal regions / PAR1"", ""CD molecules"""	7082	protein-coding gene	gene with protein product		313470, 450000	"""antigen identified by monoclonal antibodies 12E7, F21 and O13"", ""CD99 antigen"""	MIC2			Standard	NM_001122898		Approved		uc004cqm.3	P14209	OTTHUMG00000021073	ENST00000381192.3:c.315A>T	X.37:g.2641359A>T	ENSP00000370588:p.Lys105Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIW1|O00518|Q6ICV7	Missense_Mutation	SNP	pfam_CD99L2	p.K105N	ENST00000381192.3	37	c.315	CCDS14119.1	X	.	.	.	.	.	.	.	.	.	.	a	7.281	0.609043	0.14066	.	.	ENSG00000002586	ENST00000381192;ENST00000381187;ENST00000381184;ENST00000449611	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	0.774	-1.55	0.08558	.	1.157650	0.06938	U	0.812219	T	0.14056	0.0340	N	0.20685	0.6	0.09310	N	1	B;B;B	0.23650	0.089;0.089;0.089	B;B;B	0.19666	0.026;0.026;0.026	T	0.26883	-1.0090	9	0.66056	D	0.02	.	.	.	.	.	89;105;105	A6NIW1;B2R932;P14209	.;.;CD99_HUMAN	N	105;89;105;148	ENSP00000370588:K105N;ENSP00000370582:K89N;ENSP00000370579:K105N;ENSP00000405544:K148N	ENSP00000370579:K105N	K	+	3	2	CD99	2651359	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	-2.026000	0.01434	-1.099000	0.03034	0.242000	0.17961	AAA	CD99	-	pfam_CD99L2	ENSG00000002586		0.532	CD99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD99	HGNC	protein_coding	OTTHUMT00000055624.1	136	0.00	0	A	NM_001122898		2641359	2641359	+1	no_errors	ENST00000381192	ensembl	human	known	69_37n	missense	70	25.77	25	SNP	0.001	T
CNTN6	27255	genome.wustl.edu	37	3	1369212	1369212	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr3:1369212A>T	ENST00000446702.2	+	10	1782	c.1155A>T	c.(1153-1155)caA>caT	p.Q385H	CNTN6_ENST00000539053.1_Missense_Mutation_p.Q313H|CNTN6_ENST00000350110.2_Missense_Mutation_p.Q385H			Q9UQ52	CNTN6_HUMAN	contactin 6	385	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.Q385H(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTGTGTACCAATGTGCTGCAG	0.333																																						dbGAP											1	Substitution - Missense(1)	breast(1)											111.0	109.0	109.0					3																	1369212		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1155A>T	3.37:g.1369212A>T	ENSP00000407822:p.Gln385His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KHM2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q385H	ENST00000446702.2	37	c.1155	CCDS2557.1	3	.	.	.	.	.	.	.	.	.	.	A	20.0	3.930999	0.73327	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	D;D;D	0.81996	-1.56;-1.56;-1.56	5.13	-3.44	0.04796	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000039	D	0.90013	0.6882	M	0.85630	2.765	0.45777	D	0.998668	D	0.89917	1.0	D	0.91635	0.999	D	0.89009	0.3427	10	0.66056	D	0.02	.	15.233	0.73407	0.3074:0.0:0.6926:0.0	.	385	Q9UQ52	CNTN6_HUMAN	H	385;313;385	ENSP00000407822:Q385H;ENSP00000442791:Q313H;ENSP00000341882:Q385H	ENSP00000341882:Q385H	Q	+	3	2	CNTN6	1344212	0.998000	0.40836	0.961000	0.40146	0.997000	0.91878	0.431000	0.21444	-0.879000	0.04002	0.454000	0.30748	CAA	CNTN6	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000134115		0.333	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2	77	0.00	0	A	NM_014461		1369212	1369212	+1	no_errors	ENST00000350110	ensembl	human	known	69_37n	missense	56	20.00	14	SNP	0.983	T
DGAT2L6	347516	genome.wustl.edu	37	X	69424167	69424167	+	Silent	SNP	C	C	G			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chrX:69424167C>G	ENST00000333026.3	+	6	760	c.660C>G	c.(658-660)gtC>gtG	p.V220V		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	220					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)	p.V220V(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						CATACCTTGTCCCTTCATATT	0.507																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											48.0	40.0	42.0					X																	69424167		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.660C>G	X.37:g.69424167C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEE2	Silent	SNP	pfam_DAGAT	p.V220	ENST00000333026.3	37	c.660	CCDS14397.1	X																																																																																			DGAT2L6	-	pfam_DAGAT	ENSG00000184210		0.507	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGAT2L6	HGNC	protein_coding	OTTHUMT00000057067.1	77	0.00	0	C	NM_198512		69424167	69424167	+1	no_errors	ENST00000333026	ensembl	human	known	69_37n	silent	58	17.14	12	SNP	0.988	G
ENGASE	64772	genome.wustl.edu	37	17	77079103	77079103	+	Splice_Site	SNP	C	C	T			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr17:77079103C>T	ENST00000579016.1	+	8	1040	c.1040C>T	c.(1039-1041)tCg>tTg	p.S347L	ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	347	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.					cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)	p.S347L(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TCTCTTCAGTCGTTGGAGCTG	0.582											OREG0024792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - Missense(1)	breast(1)											168.0	174.0	172.0					17																	77079103		2076	4199	6275	-	-	-	SO:0001630	splice_region_variant	0			AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1039-1C>T	17.37:g.77079103C>T		Somatic	1173	WXS	Illumina GAIIx	Phase_IV	Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	pfam_Glyco_hydro_85,pfscan_BRCT_dom	p.S347L	ENST00000579016.1	37	c.1040	CCDS42394.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.138615	0.94560	.	.	ENSG00000167280	ENST00000311595;ENST00000545583	.	.	.	5.4	5.4	0.78164	Glycoside hydrolase, family 85 (1);BRCT (1);	0.062472	0.64402	D	0.000003	T	0.77471	0.4135	M	0.70595	2.14	0.80722	D	1	D	0.65815	0.995	D	0.63793	0.918	T	0.76889	-0.2792	9	0.42905	T	0.14	-8.1074	18.7763	0.91912	0.0:1.0:0.0:0.0	.	347	Q8NFI3	ENASE_HUMAN	L	347	.	ENSP00000308158:S347L	S	+	2	0	ENGASE	74590698	1.000000	0.71417	0.918000	0.36340	0.723000	0.41478	4.916000	0.63362	2.514000	0.84764	0.561000	0.74099	TCG	ENGASE	-	pfam_Glyco_hydro_85,pfscan_BRCT_dom	ENSG00000167280		0.582	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENGASE	HGNC	protein_coding	OTTHUMT00000395807.1	64	0.00	0	C	NM_022759	Missense_Mutation	77079103	77079103	+1	no_errors	ENST00000579016	ensembl	human	known	69_37n	missense	28	14.71	5	SNP	1.000	T
ERCC6	2074	genome.wustl.edu	37	10	50684343	50684343	+	Missense_Mutation	SNP	C	C	T	rs56397747		TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr10:50684343C>T	ENST00000355832.5	-	12	2378	c.2300G>A	c.(2299-2301)cGt>cAt	p.R767H	ERCC6_ENST00000542458.1_Missense_Mutation_p.R137H	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	767					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ATCTGTAAGACGGCAAAATAA	0.318								Direct reversal of damage;Nucleotide excision repair (NER)																														dbGAP											0													54.0	55.0	55.0					10																	50684343		2203	4300	6503	-	-	-	SO:0001583	missense	0			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2300G>A	10.37:g.50684343C>T	ENSP00000348089:p.Arg767His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DX94|Q5W0L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R767H	ENST00000355832.5	37	c.2300	CCDS7229.1	10	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823299	0.71143	.	.	ENSG00000225830	ENST00000355832;ENST00000539110;ENST00000542458	T;T	0.76060	-0.99;-0.99	5.41	5.41	0.78517	SNF2-related (1);	.	.	.	.	T	0.75228	0.3821	L	0.48174	1.505	0.58432	D	0.999998	D	0.54207	0.965	P	0.47044	0.535	T	0.77191	-0.2678	9	0.52906	T	0.07	-18.9904	19.1966	0.93691	0.0:1.0:0.0:0.0	rs56397747	767	Q03468	ERCC6_HUMAN	H	767;16;137	ENSP00000348089:R767H;ENSP00000445134:R137H	ENSP00000348089:R767H	R	-	2	0	ERCC6	50354349	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.884000	0.69729	2.546000	0.85860	0.557000	0.71058	CGT	ERCC6	-	pfam_SNF2_N	ENSG00000225830		0.318	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	180	0.00	0	C	NM_000124		50684343	50684343	-1	no_errors	ENST00000355832	ensembl	human	known	69_37n	missense	237	10.23	27	SNP	1.000	T
FAM47C	442444	genome.wustl.edu	37	X	37027607	37027607	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chrX:37027607T>A	ENST00000358047.3	+	1	1176	c.1124T>A	c.(1123-1125)gTg>gAg	p.V375E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	375								p.V375E(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GAGGCTGGAGTGTCCCATCTC	0.642																																						dbGAP											2	Substitution - Missense(2)	breast(2)											65.0	64.0	64.0					X																	37027607		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1124T>A	X.37:g.37027607T>A	ENSP00000367913:p.Val375Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZU46	Missense_Mutation	SNP	NULL	p.V375E	ENST00000358047.3	37	c.1124	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	t	6.692	0.496378	0.12762	.	.	ENSG00000198173	ENST00000358047	T	0.20881	2.04	0.53	-1.06	0.10002	.	.	.	.	.	T	0.13841	0.0335	L	0.61218	1.895	0.09310	N	1	B	0.30889	0.299	B	0.26614	0.071	T	0.41716	-0.9493	9	0.02654	T	1	.	4.0944	0.09985	0.0:0.2756:0.0:0.7244	.	375	Q5HY64	FA47C_HUMAN	E	375	ENSP00000367913:V375E	ENSP00000367913:V375E	V	+	2	0	FAM47C	36937528	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-3.168000	0.00574	-0.930000	0.03752	-1.456000	0.01031	GTG	FAM47C	-	NULL	ENSG00000198173		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	317	0.00	0	T	NM_001013736		37027607	37027607	+1	no_errors	ENST00000358047	ensembl	human	known	69_37n	missense	283	19.37	68	SNP	0.024	A
FIGN	55137	genome.wustl.edu	37	2	164466086	164466086	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr2:164466086G>C	ENST00000333129.3	-	3	2570	c.2256C>G	c.(2254-2256)aaC>aaG	p.N752K	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	752					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.N752K(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CAAACATTTTGTTCCATTCAA	0.378																																						dbGAP											2	Substitution - Missense(2)	lung(1)|breast(1)											53.0	52.0	52.0					2																	164466086		1867	4107	5974	-	-	-	SO:0001583	missense	0			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.2256C>G	2.37:g.164466086G>C	ENSP00000333836:p.Asn752Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.N752K	ENST00000333129.3	37	c.2256	CCDS2221.2	2	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047718	0.36085	.	.	ENSG00000182263	ENST00000333129	D	0.98493	-4.96	6.02	4.21	0.49690	.	0.000000	0.85682	D	0.000000	D	0.98789	0.9592	M	0.86864	2.845	0.80722	D	1	D	0.67145	0.996	D	0.65140	0.932	D	0.99399	1.0927	10	0.66056	D	0.02	-36.6586	13.0936	0.59178	0.1314:0.0:0.8686:0.0	.	752	Q5HY92	FIGN_HUMAN	K	752	ENSP00000333836:N752K	ENSP00000333836:N752K	N	-	3	2	FIGN	164174332	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.019000	0.57181	1.554000	0.49487	0.650000	0.86243	AAC	FIGN	-	NULL	ENSG00000182263		0.378	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGN	HGNC	protein_coding	OTTHUMT00000157220.2	124	0.00	0	G	NM_018086		164466086	164466086	-1	no_errors	ENST00000333129	ensembl	human	known	69_37n	missense	98	24.62	32	SNP	1.000	C
FPR3	2359	genome.wustl.edu	37	19	52327516	52327516	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr19:52327516G>A	ENST00000339223.4	+	2	694	c.515G>A	c.(514-516)gGg>gAg	p.G172E	FPR3_ENST00000595991.1_Missense_Mutation_p.G172E	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	172					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)	p.G172E(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						ACTACGAATGGGGACACATAC	0.448																																						dbGAP											1	Substitution - Missense(1)	breast(1)											179.0	163.0	168.0					19																	52327516		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.515G>A	19.37:g.52327516G>A	ENSP00000341821:p.Gly172Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Anphylx_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.G172E	ENST00000339223.4	37	c.515	CCDS12841.1	19	.	.	.	.	.	.	.	.	.	.	.	12.36	1.915463	0.33815	.	.	ENSG00000187474	ENST00000339223	T	0.37235	1.21	2.34	0.00356	0.14055	GPCR, rhodopsin-like superfamily (1);	0.167732	0.41823	D	0.000816	T	0.45316	0.1336	M	0.70108	2.13	0.09310	N	1	P	0.46578	0.88	P	0.55087	0.768	T	0.34079	-0.9843	10	0.87932	D	0	.	5.926	0.19112	0.3001:0.0:0.6999:0.0	.	172	P25089	FPR3_HUMAN	E	172	ENSP00000341821:G172E	ENSP00000341821:G172E	G	+	2	0	FPR3	57019328	0.000000	0.05858	0.025000	0.17156	0.067000	0.16453	-1.215000	0.02985	-0.043000	0.13513	0.467000	0.42956	GGG	FPR3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000187474		0.448	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FPR3	HGNC	protein_coding	OTTHUMT00000466914.1	476	0.00	0	G	NM_002030		52327516	52327516	+1	no_errors	ENST00000339223	ensembl	human	known	69_37n	missense	421	14.78	73	SNP	0.000	A
GABRG1	2565	genome.wustl.edu	37	4	46060587	46060587	+	Silent	SNP	T	T	C			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr4:46060587T>C	ENST00000295452.4	-	6	845	c.678A>G	c.(676-678)gaA>gaG	p.E226E		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	226					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.E226E(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GATCAGCCACTTCTACGGAGG	0.353																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											76.0	74.0	75.0					4																	46060587		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.678A>G	4.37:g.46060587T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H9T8	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.E226	ENST00000295452.4	37	c.678	CCDS3470.1	4																																																																																			GABRG1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000163285		0.353	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG1	HGNC	protein_coding	OTTHUMT00000250470.1	134	0.00	0	T	NM_173536		46060587	46060587	-1	no_errors	ENST00000295452	ensembl	human	known	69_37n	silent	139	14.20	23	SNP	1.000	C
GPR26	2849	genome.wustl.edu	37	10	125447554	125447554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr10:125447554C>T	ENST00000284674.1	+	3	945	c.892C>T	c.(892-894)Cga>Tga	p.R298*		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	298					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R298*(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CTCCTTACTGCGACACCAGTA	0.597																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											84.0	74.0	78.0					10																	125447554		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.892C>T	10.37:g.125447554C>T	ENSP00000284674:p.Arg298*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M2E2	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.R298*	ENST00000284674.1	37	c.892	CCDS7636.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.743927	0.96873	.	.	ENSG00000154478	ENST00000284674	.	.	.	5.59	-0.214	0.13161	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-4.1452	7.6698	0.28453	0.3459:0.5221:0.0:0.132	.	.	.	.	X	298	.	ENSP00000284674:R298X	R	+	1	2	GPR26	125437544	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	2.309000	0.43699	0.259000	0.21709	-0.237000	0.12165	CGA	GPR26	-	pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_7TM_GPCR_Rhodpsn	ENSG00000154478		0.597	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR26	HGNC	protein_coding	OTTHUMT00000050850.1	43	0.00	0	C			125447554	125447554	+1	no_errors	ENST00000284674	ensembl	human	known	69_37n	nonsense	61	14.08	10	SNP	1.000	T
GPR64	10149	genome.wustl.edu	37	X	19017264	19017264	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chrX:19017264C>G	ENST00000379869.3	-	26	2627	c.2464G>C	c.(2464-2466)Gga>Cga	p.G822R	GPR64_ENST00000354791.3_Missense_Mutation_p.G806R|GPR64_ENST00000379878.3_Missense_Mutation_p.G806R|GPR64_ENST00000379873.2_Missense_Mutation_p.G822R|GPR64_ENST00000357991.3_Missense_Mutation_p.G819R|GPR64_ENST00000360279.4_Missense_Mutation_p.G800R|GPR64_ENST00000340581.3_Missense_Mutation_p.G703R|GPR64_ENST00000357544.3_Missense_Mutation_p.G792R|GPR64_ENST00000379876.1_Missense_Mutation_p.G798R|GPR64_ENST00000356606.4_Missense_Mutation_p.G808R	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	822					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.G819R(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CGCTGGGCTCCCAGTTGCTTC	0.463																																						dbGAP											1	Substitution - Missense(1)	breast(1)											146.0	141.0	143.0					X																	19017264		2203	4300	6503	-	-	-	SO:0001583	missense	0			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2464G>C	X.37:g.19017264C>G	ENSP00000369198:p.Gly822Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.G822R	ENST00000379869.3	37	c.2464	CCDS43923.1	X	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845314	0.71603	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23	5.88	5.88	0.94601	GPCR, family 2-like (1);	0.000000	0.53938	D	0.000048	T	0.37865	0.1019	N	0.04018	-0.295	0.47621	D	0.999471	B;P;D;B;B;D;D;D;D;B;D	0.89917	0.025;0.508;1.0;0.094;0.094;1.0;1.0;1.0;1.0;0.115;1.0	B;B;D;B;B;D;D;D;D;B;D	0.91635	0.079;0.241;0.996;0.108;0.074;0.998;0.998;0.996;0.996;0.174;0.999	T	0.39187	-0.9626	10	0.12103	T	0.63	.	19.1599	0.93526	0.0:1.0:0.0:0.0	.	703;784;792;798;806;822;800;808;819;822;806	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	R	822;806;806;798;792;822;800;819;808;703	ENSP00000369202:G822R;ENSP00000369207:G806R;ENSP00000346845:G806R;ENSP00000369205:G798R;ENSP00000350152:G792R;ENSP00000369198:G822R;ENSP00000353421:G800R;ENSP00000350680:G819R;ENSP00000349015:G808R;ENSP00000344972:G703R	ENSP00000344972:G703R	G	-	1	0	GPR64	18927185	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.565000	0.60836	2.475000	0.83589	0.594000	0.82650	GGA	GPR64	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000173698		0.463	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	HGNC	protein_coding	OTTHUMT00000055970.2	300	0.33	1	C			19017264	19017264	-1	no_errors	ENST00000379869	ensembl	human	known	69_37n	missense	275	22.32	79	SNP	1.000	G
HTR1B	3351	genome.wustl.edu	37	6	78172233	78172233	+	Silent	SNP	G	G	A			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr6:78172233G>A	ENST00000369947.2	-	1	1257	c.888C>T	c.(886-888)gaC>gaT	p.D296D		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	296					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.D296D(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CCAGCAGGGCGTCGGAGACTC	0.552																																						dbGAP											2	Substitution - coding silent(2)	NS(1)|breast(1)											159.0	171.0	167.0					6																	78172233		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.888C>T	6.37:g.78172233G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VAY7	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_Adrnrgc_rcpt	p.D296	ENST00000369947.2	37	c.888	CCDS4986.1	6																																																																																			HTR1B	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT1B_rcpt	ENSG00000135312		0.552	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1B	HGNC	protein_coding	OTTHUMT00000041292.1	73	0.00	0	G	NM_000863		78172233	78172233	-1	no_errors	ENST00000369947	ensembl	human	known	69_37n	silent	43	18.87	10	SNP	1.000	A
IARS	3376	genome.wustl.edu	37	9	94985652	94985652	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr9:94985652G>A	ENST00000375643.3	-	32	3795	c.3529C>T	c.(3529-3531)Cag>Tag	p.Q1177*	IARS_ENST00000447699.2_Nonsense_Mutation_p.Q1067*|IARS_ENST00000375629.3_3'UTR|IARS_ENST00000443024.2_Nonsense_Mutation_p.Q1177*	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1177					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.Q1177*(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TTCAGGAGCTGTAGGTTGATA	0.453																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											127.0	117.0	120.0					9																	94985652		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.3529C>T	9.37:g.94985652G>A	ENSP00000364794:p.Gln1177*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Nonsense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt	p.Q1177*	ENST00000375643.3	37	c.3529	CCDS6694.1	9	.	.	.	.	.	.	.	.	.	.	G	40	8.270071	0.98735	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000543028;ENST00000447699;ENST00000375660;ENST00000421189	.	.	.	5.86	4.95	0.65309	.	0.237324	0.44483	D	0.000449	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-10.261	13.7137	0.62682	0.0:0.0:0.8454:0.1546	.	.	.	.	X	1177;1177;186;1067;1177;186	.	ENSP00000364794:Q1177X	Q	-	1	0	IARS	94025473	1.000000	0.71417	0.998000	0.56505	0.804000	0.45430	3.660000	0.54496	1.578000	0.49821	0.650000	0.86243	CAG	IARS	-	NULL	ENSG00000196305		0.453	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS	HGNC	protein_coding	OTTHUMT00000053059.2	113	0.00	0	G	NM_002161		94985652	94985652	-1	no_errors	ENST00000375643	ensembl	human	known	69_37n	nonsense	32	37.25	19	SNP	1.000	A
KIAA0430	9665	genome.wustl.edu	37	16	15724259	15724259	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr16:15724259T>A	ENST00000396368.3	-	7	1660	c.1454A>T	c.(1453-1455)cAt>cTt	p.H485L	KIAA0430_ENST00000602337.1_Missense_Mutation_p.H482L|KIAA0430_ENST00000344181.3_Missense_Mutation_p.H307L|KIAA0430_ENST00000548025.1_Missense_Mutation_p.H482L|KIAA0430_ENST00000551742.1_Missense_Mutation_p.H485L|KIAA0430_ENST00000540441.2_Missense_Mutation_p.H485L	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	485	NYN.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.H485L(1)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CTCGTTAGCATGATGCAGCAG	0.433																																						dbGAP											1	Substitution - Missense(1)	breast(1)											119.0	113.0	115.0					16																	15724259		1940	4150	6090	-	-	-	SO:0001583	missense	0			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.1454A>T	16.37:g.15724259T>A	ENSP00000379654:p.His485Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.H485L	ENST00000396368.3	37	c.1454	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	T	35	5.415294	0.96092	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	6.05	6.05	0.98169	Domain of unknown function DUF88 (1);	0.000000	0.85682	D	0.000000	T	0.66096	0.2755	L	0.34521	1.04	0.44899	D	0.997914	P;D;P;P	0.61697	0.896;0.99;0.947;0.915	P;D;D;P	0.66602	0.715;0.945;0.919;0.812	T	0.65450	-0.6165	9	0.42905	T	0.14	.	16.5932	0.84781	0.0:0.0:0.0:1.0	.	484;482;481;484	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	L	485;485;484;307;482;485;485	.	ENSP00000315718:H484L	H	-	2	0	KIAA0430	15631760	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.274000	0.78538	2.320000	0.78422	0.528000	0.53228	CAT	KIAA0430	-	pfam_NYN_limkain-b1	ENSG00000166783		0.433	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	121	0.00	0	T	NM_014647		15724259	15724259	-1	no_errors	ENST00000396368	ensembl	human	known	69_37n	missense	159	17.19	33	SNP	1.000	A
KIAA0895	23366	genome.wustl.edu	37	7	36396564	36396564	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr7:36396564G>C	ENST00000297063.6	-	3	864	c.814C>G	c.(814-816)Ctg>Gtg	p.L272V	KIAA0895_ENST00000436884.1_Missense_Mutation_p.L121V|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000415803.2_Missense_Mutation_p.L259V|KIAA0895_ENST00000440378.1_Missense_Mutation_p.L221V|KIAA0895_ENST00000317020.6_Missense_Mutation_p.L221V|KIAA0895_ENST00000338533.5_Missense_Mutation_p.L259V|KIAA0895_ENST00000453212.1_Intron	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	272								p.L259V(1)|p.L272V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						ACGCTTGGCAGAGCAGGATTG	0.378																																						dbGAP											2	Substitution - Missense(2)	breast(2)											100.0	90.0	94.0					7																	36396564		1869	4111	5980	-	-	-	SO:0001583	missense	0			BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.814C>G	7.37:g.36396564G>C	ENSP00000297063:p.Leu272Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	pfam_DUF1704	p.L272V	ENST00000297063.6	37	c.814	CCDS43570.1	7	.	.	.	.	.	.	.	.	.	.	G	6.857	0.527407	0.13066	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000415803;ENST00000429651	.	.	.	5.74	3.85	0.44370	.	0.267584	0.36628	N	0.002496	T	0.36248	0.0960	L	0.44542	1.39	0.29338	N	0.866244	P;B;B;P;B;B;B	0.40619	0.724;0.016;0.016;0.663;0.039;0.052;0.004	B;B;B;B;B;B;B	0.43155	0.41;0.009;0.006;0.242;0.011;0.011;0.011	T	0.16012	-1.0417	9	0.25106	T	0.35	-2.0257	10.6518	0.45653	0.1198:0.1163:0.7638:0.0	.	221;221;121;259;272;259;221	B4DGN6;B7ZLT4;B4DF35;Q8NCT3-4;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;.;.;K0895_HUMAN;.;.	V	272;259;221;221;121;259;139	.	ENSP00000297063:L272V	L	-	1	2	KIAA0895	36363089	0.579000	0.26725	0.968000	0.41197	0.973000	0.67179	0.718000	0.25866	2.717000	0.92951	0.563000	0.77884	CTG	KIAA0895	-	NULL	ENSG00000164542		0.378	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	KIAA0895	HGNC	protein_coding	OTTHUMT00000337717.1	110	0.00	0	G	NM_015314		36396564	36396564	-1	no_errors	ENST00000297063	ensembl	human	known	69_37n	missense	39	44.29	31	SNP	0.834	C
KLHL28	54813	genome.wustl.edu	37	14	45414398	45414398	+	Missense_Mutation	SNP	C	C	T	rs573907160	byFrequency	TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr14:45414398C>T	ENST00000396128.4	-	2	853	c.734G>A	c.(733-735)cGt>cAt	p.R245H	KLHL28_ENST00000355081.2_Missense_Mutation_p.R259H	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	245								p.R245H(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCGATCATCACGAATAAGATG	0.383													C|||	7	0.00139776	0.0	0.0	5008	,	,		20989	0.0		0.0	False		,,,				2504	0.0072					dbGAP											1	Substitution - Missense(1)	breast(1)											134.0	119.0	124.0					14																	45414398		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.734G>A	14.37:g.45414398C>T	ENSP00000379434:p.Arg245His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAL5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R245H	ENST00000396128.4	37	c.734	CCDS9680.1	14	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525238	0.85600	.	.	ENSG00000179454	ENST00000396128;ENST00000355081	T;T	0.69306	-0.39;-0.36	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.79082	0.4386	M	0.78344	2.41	0.58432	D	0.999999	P;D	0.71674	0.9;0.998	B;P	0.54346	0.247;0.749	T	0.81908	-0.0717	10	0.87932	D	0	.	19.2382	0.93871	0.0:1.0:0.0:0.0	.	245;245	Q9NXS3-2;Q9NXS3	.;KLH28_HUMAN	H	245;259	ENSP00000379434:R245H;ENSP00000347193:R259H	ENSP00000347193:R259H	R	-	2	0	KLHL28	44484148	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.418000	0.80167	2.647000	0.89833	0.561000	0.74099	CGT	KLHL28	-	pirsf_Kelch-like_gigaxonin	ENSG00000179454		0.383	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL28	HGNC	protein_coding	OTTHUMT00000276790.3	183	0.00	0	C			45414398	45414398	-1	no_errors	ENST00000396128	ensembl	human	known	69_37n	missense	160	16.23	31	SNP	1.000	T
KRT1	3848	genome.wustl.edu	37	12	53071201	53071201	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr12:53071201G>A	ENST00000252244.3	-	5	1085	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	343	Linker 12.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.R343C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						TCGAGACTGCGGTTGTTGTCC	0.483																																						dbGAP											1	Substitution - Missense(1)	breast(1)											128.0	121.0	123.0					12																	53071201		2203	4300	6503	-	-	-	SO:0001583	missense	0			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1027C>T	12.37:g.53071201G>A	ENSP00000252244:p.Arg343Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.R343C	ENST00000252244.3	37	c.1027	CCDS8836.1	12	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170227	0.78452	.	.	ENSG00000167768	ENST00000252244	T	0.75938	-0.98	5.22	3.27	0.37495	Filament (1);	.	.	.	.	D	0.88153	0.6360	M	0.91818	3.245	0.58432	D	0.999997	D	0.89917	1.0	D	0.81914	0.995	D	0.91111	0.4922	9	0.72032	D	0.01	.	14.8253	0.70107	0.0:0.0:0.7406:0.2594	.	343	P04264	K2C1_HUMAN	C	343	ENSP00000252244:R343C	ENSP00000252244:R343C	R	-	1	0	KRT1	51357468	1.000000	0.71417	0.951000	0.38953	0.835000	0.47333	3.954000	0.56708	1.327000	0.45338	0.484000	0.47621	CGC	KRT1	-	pfam_F	ENSG00000167768		0.483	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	184	0.00	0	G	NM_006121		53071201	53071201	-1	no_errors	ENST00000252244	ensembl	human	known	69_37n	missense	70	32.69	34	SNP	1.000	A
LAS1L	81887	genome.wustl.edu	37	X	64737980	64737980	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chrX:64737980C>G	ENST00000374811.3	-	12	1854	c.1814G>C	c.(1813-1815)aGa>aCa	p.R605T	LAS1L_ENST00000374807.5_Missense_Mutation_p.R588T|LAS1L_ENST00000374804.5_Missense_Mutation_p.R546T|LAS1L_ENST00000312391.8_3'UTR	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	605					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R605T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CACCTCCATTCTGtcttcctc	0.522																																						dbGAP											1	Substitution - Missense(1)	breast(1)											192.0	145.0	161.0					X																	64737980		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1814G>C	X.37:g.64737980C>G	ENSP00000363944:p.Arg605Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	pfam_Las1	p.R605T	ENST00000374811.3	37	c.1814	CCDS14381.1	X	.	.	.	.	.	.	.	.	.	.	C	11.46	1.645373	0.29246	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804	.	.	.	4.68	3.71	0.42584	.	0.913275	0.09292	N	0.822179	T	0.43277	0.1240	L	0.51422	1.61	0.09310	N	1	B;B;B;B	0.24426	0.103;0.103;0.063;0.103	B;B;B;B	0.22601	0.027;0.04;0.012;0.039	T	0.32981	-0.9886	9	0.51188	T	0.08	.	9.75	0.40470	0.2223:0.7776:0.0:0.0	.	546;588;605;118	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2;B3KNR6	.;.;LAS1L_HUMAN;.	T	588;605;546	.	ENSP00000363937:R546T	R	-	2	0	LAS1L	64654705	0.719000	0.27986	0.096000	0.21009	0.635000	0.38103	0.723000	0.25939	1.905000	0.55150	0.544000	0.68410	AGA	LAS1L	-	NULL	ENSG00000001497		0.522	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAS1L	HGNC	protein_coding	OTTHUMT00000056974.1	60	0.00	0	C	NM_031206		64737980	64737980	-1	no_errors	ENST00000374811	ensembl	human	known	69_37n	missense	55	17.91	12	SNP	0.029	G
LCMT2	9836	genome.wustl.edu	37	15	43621247	43621247	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr15:43621247G>A	ENST00000305641.5	-	1	1556	c.1441C>T	c.(1441-1443)Cgg>Tgg	p.R481W	ADAL_ENST00000422466.2_5'Flank|ADAL_ENST00000428046.3_5'Flank|ADAL_ENST00000389651.4_5'Flank|LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_Missense_Mutation_p.R60W	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	481					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)	p.R481W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GTTGAATGCCGCCAACAACAC	0.438																																						dbGAP											1	Substitution - Missense(1)	breast(1)											105.0	104.0	104.0					15																	43621247		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1441C>T	15.37:g.43621247G>A	ENSP00000307214:p.Arg481Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	pfam_LCM_MeTrfase	p.R481W	ENST00000305641.5	37	c.1441	CCDS10094.1	15	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709757	0.48517	.	.	ENSG00000168806	ENST00000305641;ENST00000544735	T;T	0.67345	1.79;-0.26	5.14	0.999	0.19862	Kelch-type beta propeller (1);	0.062767	0.64402	N	0.000012	T	0.76535	0.4001	M	0.70275	2.135	0.44395	D	0.997307	D	0.89917	1.0	D	0.83275	0.996	T	0.74281	-0.3716	10	0.87932	D	0	-20.4633	8.3607	0.32357	0.0:0.1453:0.4052:0.4495	.	481	O60294	LCMT2_HUMAN	W	481;60	ENSP00000307214:R481W;ENSP00000442022:R60W	ENSP00000307214:R481W	R	-	1	2	LCMT2	41408539	1.000000	0.71417	0.998000	0.56505	0.853000	0.48598	1.856000	0.39389	0.029000	0.15352	-0.181000	0.13052	CGG	LCMT2	-	NULL	ENSG00000168806		0.438	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCMT2	HGNC	protein_coding	OTTHUMT00000253205.1	127	0.00	0	G	NM_014793		43621247	43621247	-1	no_errors	ENST00000305641	ensembl	human	known	69_37n	missense	104	22.96	31	SNP	0.999	A
MALAT1	378938	genome.wustl.edu	37	11	65266621	65266621	+	lincRNA	SNP	C	C	G	rs11547521		TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr11:65266621C>G	ENST00000534336.1	+	0	1389				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		ATTAATACAACTACTTAAAAA	0.363																																						dbGAP											0													32.0	37.0	35.0					11																	65266621		874	1988	2862	-	-	-			0			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65266621C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-	ENSG00000251562		0.363	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	33	0.00	0	C	NR_002819		65266621	65266621	+1	no_errors	ENST00000534336	ensembl	human	known	69_37n	rna	25	30.56	11	SNP	0.000	G
MCM3AP	8888	genome.wustl.edu	37	21	47664999	47664999	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr21:47664999C>T	ENST00000397708.1	-	24	5014	c.4760G>A	c.(4759-4761)cGc>cAc	p.R1587H	MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|AP001469.7_ENST00000444966.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.R1587H|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1587					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.R1587H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					ATGGAAAAAGCGGCCACTAAA	0.557																																						dbGAP											1	Substitution - Missense(1)	breast(1)											71.0	72.0	72.0					21																	47664999		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4760G>A	21.37:g.47664999C>T	ENSP00000380820:p.Arg1587His	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.R1587H	ENST00000397708.1	37	c.4760	CCDS13734.1	21	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003460	0.74932	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.04809	3.55;3.55	5.45	5.45	0.79879	.	0.105229	0.64402	D	0.000006	T	0.15825	0.0381	M	0.65975	2.015	0.50313	D	0.99986	D;P	0.89917	1.0;0.788	D;B	0.65987	0.94;0.244	T	0.00069	-1.2136	10	0.59425	D	0.04	-30.1328	9.2969	0.37822	0.0:0.7775:0.1463:0.0762	.	1587;82	O60318;B3KT88	MCM3A_HUMAN;.	H	1587;1587;82	ENSP00000380820:R1587H;ENSP00000291688:R1587H	ENSP00000291688:R1587H	R	-	2	0	MCM3AP	46489427	0.998000	0.40836	0.996000	0.52242	0.815000	0.46073	3.081000	0.50120	2.545000	0.85829	0.655000	0.94253	CGC	MCM3AP	-	NULL	ENSG00000160294		0.557	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1	94	0.00	0	C	NM_003906		47664999	47664999	-1	no_errors	ENST00000291688	ensembl	human	known	69_37n	missense	108	15.50	20	SNP	0.992	T
MFSD9	84804	genome.wustl.edu	37	2	103334999	103334999	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr2:103334999C>G	ENST00000258436.5	-	6	1348	c.1305G>C	c.(1303-1305)gaG>gaC	p.E435D	MFSD9_ENST00000496253.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	435					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.E435D(1)		breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						AAGGGCTGACCTCCTGGGCAA	0.622																																						dbGAP											1	Substitution - Missense(1)	breast(1)											28.0	33.0	31.0					2																	103334999		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.1305G>C	2.37:g.103334999C>G	ENSP00000258436:p.Glu435Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG,pfscan_MFS_dom	p.E435D	ENST00000258436.5	37	c.1305	CCDS2063.1	2	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471853	0.43942	.	.	ENSG00000135953	ENST00000258436	T	0.79247	-1.25	5.47	2.66	0.31614	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.104687	0.64402	D	0.000005	T	0.68650	0.3024	M	0.72894	2.215	0.38150	D	0.938713	P	0.44578	0.838	B	0.37015	0.239	T	0.67213	-0.5727	10	0.11182	T	0.66	-16.8485	9.2802	0.37725	0.0:0.6003:0.0:0.3997	.	435	Q8NBP5	MFSD9_HUMAN	D	435	ENSP00000258436:E435D	ENSP00000258436:E435D	E	-	3	2	MFSD9	102701431	0.998000	0.40836	0.975000	0.42487	0.819000	0.46315	1.842000	0.39250	0.803000	0.34113	0.650000	0.86243	GAG	MFSD9	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000135953		0.622	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD9	HGNC	protein_coding	OTTHUMT00000253295.2	44	0.00	0	C	NM_032718		103334999	103334999	-1	no_errors	ENST00000258436	ensembl	human	known	69_37n	missense	31	16.22	6	SNP	0.998	G
MICAL3	57553	genome.wustl.edu	37	22	18384696	18384696	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr22:18384696C>A	ENST00000441493.2	-	5	991	c.639G>T	c.(637-639)gaG>gaT	p.E213D	MICAL3_ENST00000400561.2_Missense_Mutation_p.E213D|MICAL3_ENST00000585038.1_Missense_Mutation_p.E213D|MICAL3_ENST00000383094.3_Missense_Mutation_p.E213D|MICAL3_ENST00000414725.2_Missense_Mutation_p.E213D|MICAL3_ENST00000207726.7_Missense_Mutation_p.E213D|MICAL3_ENST00000429452.1_Missense_Mutation_p.E213D|MICAL3_ENST00000444520.1_Missense_Mutation_p.E213D	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	213	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.E213D(3)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CAAATTCATACTCTGACACAG	0.527																																						dbGAP											3	Substitution - Missense(3)	breast(3)											90.0	76.0	80.0					22																	18384696		1568	3582	5150	-	-	-	SO:0001583	missense	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.639G>T	22.37:g.18384696C>A	ENSP00000416015:p.Glu213Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.E213D	ENST00000441493.2	37	c.639	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643227	0.29246	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.06218	3.33;3.33;3.33;3.33;3.33;3.33;3.33	5.85	0.693	0.18056	.	0.086699	0.85682	D	0.000000	T	0.03915	0.0110	N	0.01086	-1.025	0.36130	D	0.846076	B;B;B;B;D	0.64830	0.001;0.022;0.0;0.0;0.994	B;B;B;B;D	0.70716	0.002;0.011;0.003;0.005;0.97	T	0.50964	-0.8765	10	0.10111	T	0.7	.	6.2357	0.20762	0.0:0.463:0.1267:0.4104	.	213;213;213;213;213	B4DJ91;B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	D	213	ENSP00000416015:E213D;ENSP00000414846:E213D;ENSP00000383406:E213D;ENSP00000410315:E213D;ENSP00000391827:E213D;ENSP00000372574:E213D;ENSP00000207726:E213D	ENSP00000207726:E213D	E	-	3	2	XXbac-B461K10.4;MICAL3	16764696	0.999000	0.42202	0.996000	0.52242	0.990000	0.78478	0.726000	0.25984	-0.092000	0.12417	-0.123000	0.14984	GAG	MICAL3	-	NULL	ENSG00000243156		0.527	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	97	0.00	0	C			18384696	18384696	-1	no_errors	ENST00000441493	ensembl	human	known	69_37n	missense	121	14.79	21	SNP	1.000	A
MST1L	11223	genome.wustl.edu	37	1	17083776	17083776	+	RNA	SNP	C	C	A	rs56318124	byFrequency	TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr1:17083776C>A	ENST00000455405.2	-	0	812							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.R674L(1)									CACAGAGACACGCGTGAAGAC	0.537																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)																																								-	-	-			0			U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083776C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPB1|Q13209	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.R674L	ENST00000455405.2	37	c.2021		1	.	.	.	.	.	.	.	.	.	.	.	14.57	2.575742	0.45902	.	.	ENSG00000186715	ENST00000334998;ENST00000442552	.	.	.	.	.	.	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.42172	D	0.000756	T	0.66197	0.2765	.	.	.	.	.	.	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.72117	-0.4387	6	0.87932	D	0	.	6.7402	0.23431	0.0:0.9998:0.0:2.0E-4	rs56318124	674;700	Q2TV78-2;Q2TV78	.;MSTP9_HUMAN	L	674;700	.	ENSP00000439273:R674L	R	-	2	0	MST1P9	16956363	1.000000	0.71417	0.897000	0.35233	0.000000	0.00434	4.748000	0.62148	0.502000	0.28037	0.000000	0.15137	CGT	MST1P9	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000186715		0.537	MST1L-002	KNOWN	basic	processed_transcript	MST1P9	HGNC	pseudogene	OTTHUMT00000400328.1	50	0.00	0	C	NM_001271733		17083776	17083776	-1	no_errors	ENST00000334998	ensembl	human	known	69_37n	missense	24	25.00	8	SNP	1.000	A
NDUFV1	4723	genome.wustl.edu	37	11	67378019	67378020	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr11:67378019_67378020insC	ENST00000322776.6	+	5	831_832	c.678_679insC	c.(679-681)cccfs	p.P227fs	NDUFV1_ENST00000415352.2_Frame_Shift_Ins_p.P220fs|DOC2GP_ENST00000495263.1_RNA|NDUFV1_ENST00000532303.1_Frame_Shift_Ins_p.P126fs|NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000529927.1_Frame_Shift_Ins_p.P218fs	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	227					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						CCCGCCTGAAGCCCCCCTTCCC	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7716	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"""	161015	"""NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"""			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.684dupC	11.37:g.67378025_67378025dupC	ENSP00000322450:p.Pro227fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Frame_Shift_Ins	INS	pfam_NADH_UbQ_OxRdtase_51kDa_su,pfam_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,pfam_Soluble_ligand-bd,smart_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,tigrfam_NADH-UbQ_OxRdtase_suF	p.F228fs	ENST00000322776.6	37	c.678_679	CCDS8173.1	11																																																																																			NDUFV1	-	pfam_NADH_UbQ_OxRdtase_51kDa_su,tigrfam_NADH-UbQ_OxRdtase_suF	ENSG00000167792		0.619	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NDUFV1	HGNC	protein_coding	OTTHUMT00000388406.1	33	0.00	0	-	NM_007103		67378019	67378020	+1	no_errors	ENST00000322776	ensembl	human	known	69_37n	frame_shift_ins	10	16.67	2	INS	1.000:1.000	C
OR5AK2	390181	genome.wustl.edu	37	11	56757155	56757155	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr11:56757155C>T	ENST00000326855.2	+	1	809	c.767C>T	c.(766-768)tCt>tTt	p.S256F		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S256F(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GGGACACTCTCTTACATGTAT	0.393																																						dbGAP											1	Substitution - Missense(1)	breast(1)											88.0	83.0	85.0					11																	56757155		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.767C>T	11.37:g.56757155C>T	ENSP00000322784:p.Ser256Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNZ9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.S256F	ENST00000326855.2	37	c.767	CCDS31538.1	11	.	.	.	.	.	.	.	.	.	.	C	0.031	-1.334979	0.01287	.	.	ENSG00000181273	ENST00000326855	T	0.35048	1.33	3.97	1.99	0.26369	GPCR, rhodopsin-like superfamily (1);	0.198883	0.24891	U	0.034761	T	0.19446	0.0467	N	0.13327	0.33	0.09310	N	1	B	0.23806	0.091	B	0.32022	0.139	T	0.15093	-1.0449	10	0.27785	T	0.31	-12.8349	4.8428	0.13498	0.0:0.5579:0.0:0.4421	.	256	Q8NH90	O5AK2_HUMAN	F	256	ENSP00000322784:S256F	ENSP00000322784:S256F	S	+	2	0	OR5AK2	56513731	0.000000	0.05858	0.047000	0.18901	0.040000	0.13550	0.312000	0.19397	0.941000	0.37499	0.400000	0.26472	TCT	OR5AK2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181273		0.393	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AK2	HGNC	protein_coding	OTTHUMT00000392446.1	390	0.51	2	C	NM_001005323		56757155	56757155	+1	no_errors	ENST00000326855	ensembl	human	known	69_37n	missense	192	25.29	65	SNP	0.001	T
OSMR	9180	genome.wustl.edu	37	5	38885552	38885552	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr5:38885552A>C	ENST00000274276.3	+	6	1207	c.805A>C	c.(805-807)Aaa>Caa	p.K269Q	OSMR_ENST00000502536.1_Missense_Mutation_p.K269Q	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	269					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)	p.K269Q(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GGGGTGGTCTAAACAACCTTC	0.463																																						dbGAP											1	Substitution - Missense(1)	breast(1)											161.0	148.0	152.0					5																	38885552		2203	4300	6503	-	-	-	SO:0001583	missense	0			U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.805A>C	5.37:g.38885552A>C	ENSP00000274276:p.Lys269Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P4E8|Q96QJ6	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.K269Q	ENST00000274276.3	37	c.805	CCDS3928.1	5	.	.	.	.	.	.	.	.	.	.	A	11.78	1.741211	0.30865	.	.	ENSG00000145623	ENST00000502536;ENST00000274276	T;T	0.55930	0.49;1.02	5.18	-2.1	0.07210	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.358560	0.04993	N	0.467602	T	0.43545	0.1252	L	0.53249	1.67	0.09310	N	1	B;B	0.21147	0.011;0.052	B;B	0.21151	0.009;0.033	T	0.19712	-1.0297	10	0.20519	T	0.43	.	5.7082	0.17921	0.3931:0.4365:0.1704:0.0	.	269;269	Q99650;Q99650-2	OSMR_HUMAN;.	Q	269	ENSP00000422023:K269Q;ENSP00000274276:K269Q	ENSP00000274276:K269Q	K	+	1	0	OSMR	38921309	0.000000	0.05858	0.000000	0.03702	0.256000	0.26092	-0.348000	0.07740	-0.283000	0.09115	0.533000	0.62120	AAA	OSMR	-	superfamily_Fibronectin_type3	ENSG00000145623		0.463	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	OSMR	HGNC	protein_coding	OTTHUMT00000207609.2	242	0.00	0	A	NM_003999		38885552	38885552	+1	no_errors	ENST00000274276	ensembl	human	known	69_37n	missense	268	15.19	48	SNP	0.000	C
PBX1	5087	genome.wustl.edu	37	1	164776849	164776849	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr1:164776849A>T	ENST00000420696.2	+	5	960	c.772A>T	c.(772-774)Aac>Tac	p.N258Y	PBX1_ENST00000540236.1_Missense_Mutation_p.N258Y|PBX1_ENST00000367897.1_Missense_Mutation_p.N258Y|PBX1_ENST00000559240.1_Missense_Mutation_p.N258Y|PBX1_ENST00000540246.1_Missense_Mutation_p.N153Y|PBX1_ENST00000401534.1_Missense_Mutation_p.N258Y|PBX1_ENST00000560641.1_Missense_Mutation_p.N153Y	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	258					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.N258Y(1)	EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CCATCTCAGCAACCCTTACCC	0.453			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																	dbGAP		Dom	yes		1	1q23	5087	pre-B-cell leukemia transcription factor 1		"""L, M"""	1	Substitution - Missense(1)	breast(1)											142.0	153.0	149.0					1																	164776849		2203	4300	6503	-	-	-	SO:0001583	missense	0			M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.772A>T	1.37:g.164776849A>T	ENSP00000405890:p.Asn258Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.N258Y	ENST00000420696.2	37	c.772	CCDS1246.1	1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.767185	0.90020	.	.	ENSG00000185630	ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534;ENST00000540246	D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08	5.6	5.6	0.85130	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.88746	0.6520	L	0.48362	1.52	.	.	.	P;P;P;D;P	0.53462	0.848;0.93;0.815;0.96;0.829	P;P;P;D;P	0.63597	0.553;0.827;0.734;0.916;0.775	D	0.90744	0.4652	9	0.87932	D	0	-18.106	15.4588	0.75336	1.0:0.0:0.0:0.0	.	153;258;258;258;258	B7Z774;A8K5V0;F5H4U9;P40424;Q53YC7	.;.;.;PBX1_HUMAN;.	Y	258;258;258;258;153	ENSP00000405890:N258Y;ENSP00000356872:N258Y;ENSP00000439943:N258Y;ENSP00000384856:N258Y;ENSP00000440869:N153Y	ENSP00000356872:N258Y	N	+	1	0	PBX1	163043473	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.827000	0.92041	2.115000	0.64714	0.528000	0.53228	AAC	PBX1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000185630		0.453	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBX1	HGNC	protein_coding	OTTHUMT00000082864.4	269	0.00	0	A	NM_002585		164776849	164776849	+1	no_errors	ENST00000420696	ensembl	human	known	69_37n	missense	395	13.00	59	SNP	1.000	T
PCDHGA3	56112	genome.wustl.edu	37	5	140724179	140724179	+	Silent	SNP	G	G	A			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr5:140724179G>A	ENST00000253812.6	+	1	579	c.579G>A	c.(577-579)gaG>gaA	p.E193E	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	193	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E193E(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTATCCAGAGCTGGTGCTGG	0.542																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											63.0	65.0	64.0					5																	140724179		2065	4224	6289	-	-	-	SO:0001819	synonymous_variant	0			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.579G>A	5.37:g.140724179G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y5D4	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E193	ENST00000253812.6	37	c.579	CCDS47290.1	5																																																																																			PCDHGA3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000254245		0.542	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	165	0.00	0	G	NM_018916		140724179	140724179	+1	no_errors	ENST00000253812	ensembl	human	known	69_37n	silent	140	24.73	46	SNP	0.987	A
PLXNC1	10154	genome.wustl.edu	37	12	94563009	94563009	+	Silent	SNP	C	C	T			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr12:94563009C>T	ENST00000258526.4	+	2	1392	c.1143C>T	c.(1141-1143)ggC>ggT	p.G381G	RP11-74K11.2_ENST00000550759.1_RNA|RP11-74K11.2_ENST00000551029.1_RNA	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	381	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.G381G(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCGTTTATGGCACCGTGGTAA	0.443																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											217.0	174.0	188.0					12																	94563009		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1143C>T	12.37:g.94563009C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q59H25	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.G381	ENST00000258526.4	37	c.1143	CCDS9049.1	12																																																																																			PLXNC1	-	superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000136040		0.443	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	185	0.00	0	C			94563009	94563009	+1	no_errors	ENST00000258526	ensembl	human	known	69_37n	silent	142	14.97	25	SNP	1.000	T
PON2	5445	genome.wustl.edu	37	7	95041063	95041063	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr7:95041063G>T	ENST00000222572.3	-	5	642	c.396C>A	c.(394-396)aaC>aaA	p.N132K	PON2_ENST00000483292.1_5'Flank|PON2_ENST00000536183.1_Missense_Mutation_p.N153K|PON2_ENST00000433091.2_Intron			Q15165	PON2_HUMAN	paraoxonase 2	132					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.N132K(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			ATTCTGGGTGGTTTACAACAA	0.358																																					GBM(42;803 823 13649 23368 31463)	dbGAP											1	Substitution - Missense(1)	breast(1)											57.0	60.0	59.0					7																	95041063		2203	4300	6503	-	-	-	SO:0001583	missense	0			M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"""Paraoxonases"""	9205	protein-coding gene	gene with protein product	"""paraoxonase nirs"", ""arylesterase 2"""	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.396C>A	7.37:g.95041063G>T	ENSP00000222572:p.Asn132Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Missense_Mutation	SNP	pfam_Arylesterase,pfam_SGL,prints_Arylesterase,prints_Paraoxonase2	p.N153K	ENST00000222572.3	37	c.459	CCDS5640.1	7	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183543	0.38609	.	.	ENSG00000105854	ENST00000536183;ENST00000355659;ENST00000222572	T;T	0.37584	1.19;1.19	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.62258	0.2413	M	0.89414	3.03	0.51767	D	0.999937	D	0.89917	1.0	D	0.91635	0.999	T	0.67229	-0.5723	10	0.87932	D	0	-2.9137	8.7078	0.34365	0.2044:0.0:0.7956:0.0	.	132	A4D1H7	.	K	153;130;132	ENSP00000440282:N153K;ENSP00000222572:N132K	ENSP00000222572:N132K	N	-	3	2	PON2	94878999	1.000000	0.71417	1.000000	0.80357	0.147000	0.21601	2.524000	0.45589	2.740000	0.93945	0.650000	0.86243	AAC	PON2	-	prints_Arylesterase	ENSG00000105854		0.358	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PON2	HGNC	protein_coding	OTTHUMT00000333142.1	143	0.00	0	G	NM_000305		95041063	95041063	-1	no_errors	ENST00000536183	ensembl	human	known	69_37n	missense	64	31.18	29	SNP	1.000	T
RBBP9	10741	genome.wustl.edu	37	20	18474608	18474608	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr20:18474608G>T	ENST00000337227.4	-	3	317	c.242C>A	c.(241-243)gCc>gAc	p.A81D	RBBP9_ENST00000493184.1_5'UTR	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	81					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.A81D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						GCACCTCATGGCCGCGATGGC	0.493																																						dbGAP											1	Substitution - Missense(1)	breast(1)											100.0	87.0	92.0					20																	18474608		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039564	CCDS13136.1	20p11.2	2008-08-01	2001-11-28		ENSG00000089050	ENSG00000089050			9892	protein-coding gene	gene with protein product		602908	"""retinoblastoma-binding protein 9"""			9697699, 10449909	Standard	NM_006606		Approved	Bog	uc002wqy.3	O75884	OTTHUMG00000031972	ENST00000337227.4:c.242C>A	20.37:g.18474608G>T	ENSP00000336866:p.Ala81Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW31|Q5JPH9|Q9H1D8	Missense_Mutation	SNP	pfam_DUF1234_Hydrolase	p.A81D	ENST00000337227.4	37	c.242	CCDS13136.1	20	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338351	0.81911	.	.	ENSG00000089050	ENST00000337227;ENST00000339848	.	.	.	4.66	4.66	0.58398	.	0.000000	0.64402	D	0.000001	T	0.80460	0.4627	M	0.86028	2.79	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.81703	-0.0812	9	0.45353	T	0.12	-12.3815	15.4371	0.75155	0.0:0.0:1.0:0.0	.	81	O75884	RBBP9_HUMAN	D	81	.	ENSP00000336866:A81D	A	-	2	0	RBBP9	18422608	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	6.617000	0.74210	2.590000	0.87494	0.655000	0.94253	GCC	RBBP9	-	pfam_DUF1234_Hydrolase	ENSG00000089050		0.493	RBBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP9	HGNC	protein_coding	OTTHUMT00000078175.1	93	0.00	0	G	NM_006606		18474608	18474608	-1	no_errors	ENST00000337227	ensembl	human	known	69_37n	missense	76	22.45	22	SNP	1.000	T
RBFOX1	54715	genome.wustl.edu	37	16	7629860	7629860	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr16:7629860C>T	ENST00000550418.1	+	6	1340	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000547372.1_Missense_Mutation_p.R161W|RBFOX1_ENST00000552089.1_Missense_Mutation_p.R153W|RBFOX1_ENST00000547338.1_Missense_Mutation_p.R118W|RBFOX1_ENST00000436368.2_Missense_Mutation_p.R138W|RBFOX1_ENST00000340209.4_Missense_Mutation_p.R123W|RBFOX1_ENST00000553186.1_Missense_Mutation_p.R118W|RBFOX1_ENST00000355637.4_Missense_Mutation_p.R138W|RBFOX1_ENST00000311745.5_Missense_Mutation_p.R138W|RBFOX1_ENST00000422070.4_Missense_Mutation_p.R161W	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	118	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.	Interaction with RNA.			mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.R138W(2)|p.R118W(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TCAGCCCAAGCGGCTGCATGT	0.522																																					Ovarian(157;934 2567 15163 39509)	dbGAP											3	Substitution - Missense(3)	breast(3)											136.0	122.0	127.0					16																	7629860		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.352C>T	16.37:g.7629860C>T	ENSP00000450031:p.Arg118Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.R161W	ENST00000550418.1	37	c.481	CCDS55983.1	16	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271841	0.80469	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.39	-0.517	0.11947	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.68118	0.2966	H	0.94925	3.6	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.996;0.991;0.999;0.997;0.996;0.996;0.998;0.996	T	0.77923	-0.2406	10	0.87932	D	0	-7.7446	16.3074	0.82854	0.6166:0.3834:0.0:0.0	.	138;161;138;138;138;118;118;161	F8WAC5;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;RFOX1_HUMAN;.	W	117;118;118;161;161;153;118;118;138;138;138;138;123	ENSP00000450402:R117W;ENSP00000450031:R118W;ENSP00000447753:R118W;ENSP00000446842:R161W;ENSP00000391269:R161W;ENSP00000448496:R153W;ENSP00000447281:R118W;ENSP00000447717:R118W;ENSP00000402745:R138W;ENSP00000309117:R138W;ENSP00000347855:R138W;ENSP00000344196:R123W	ENSP00000309117:R138W	R	+	1	2	RBFOX1	7569861	0.990000	0.36364	0.987000	0.45799	0.994000	0.84299	0.356000	0.20181	-0.327000	0.08551	0.655000	0.94253	CGG	RBFOX1	-	smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	ENSG00000078328		0.522	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	HGNC	protein_coding	OTTHUMT00000409492.2	103	0.00	0	C	NM_145891		7629860	7629860	+1	no_errors	ENST00000547372	ensembl	human	known	69_37n	missense	113	17.39	24	SNP	1.000	T
RGL3	57139	genome.wustl.edu	37	19	11512791	11512791	+	Silent	SNP	G	G	C			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr19:11512791G>C	ENST00000380456.3	-	13	1443	c.1380C>G	c.(1378-1380)gcC>gcG	p.A460A	RGL3_ENST00000393423.3_Silent_p.A460A	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	460	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.A224A(1)|p.A460A(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GCTGGATGCGGGCCAGGATCT	0.672																																					GBM(174;751 2067 17998 27979 33959)	dbGAP											2	Substitution - coding silent(2)	breast(2)											18.0	24.0	22.0					19																	11512791		2203	4294	6497	-	-	-	SO:0001819	synonymous_variant	0			BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.1380C>G	19.37:g.11512791G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B5ME84|B7ZL22|Q0P6G0	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.A460	ENST00000380456.3	37	c.1380	CCDS32910.1	19																																																																																			RGL3	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000205517		0.672	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL3	HGNC	protein_coding	OTTHUMT00000421208.3	23	0.00	0	G	XM_290867		11512791	11512791	-1	no_errors	ENST00000393423	ensembl	human	known	69_37n	silent	15	25.00	5	SNP	0.995	C
SEMA5A	9037	genome.wustl.edu	37	5	9063053	9063053	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr5:9063053G>T	ENST00000382496.5	-	18	3129	c.2464C>A	c.(2464-2466)Cct>Act	p.P822T		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	822	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.P822T(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCAAGGCAAGGCATTCCCCCA	0.542																																						dbGAP											1	Substitution - Missense(1)	breast(1)											111.0	90.0	97.0					5																	9063053		2203	4300	6503	-	-	-	SO:0001583	missense	0			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2464C>A	5.37:g.9063053G>T	ENSP00000371936:p.Pro822Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt	p.P822T	ENST00000382496.5	37	c.2464	CCDS3875.1	5	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779584	0.31502	.	.	ENSG00000112902	ENST00000382496	T	0.54866	0.55	5.65	5.65	0.86999	.	0.105832	0.64402	D	0.000003	T	0.45175	0.1329	N	0.16166	0.38	0.41745	D	0.989634	B	0.23806	0.091	B	0.36186	0.219	T	0.45086	-0.9285	10	0.52906	T	0.07	.	17.2182	0.86950	0.0:0.0:1.0:0.0	.	822	Q13591	SEM5A_HUMAN	T	822	ENSP00000371936:P822T	ENSP00000371936:P822T	P	-	1	0	SEMA5A	9116053	1.000000	0.71417	0.989000	0.46669	0.189000	0.23516	4.699000	0.61796	2.659000	0.90383	0.655000	0.94253	CCT	SEMA5A	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000112902		0.542	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2	48	0.00	0	G			9063053	9063053	-1	no_errors	ENST00000382496	ensembl	human	known	69_37n	missense	44	21.43	12	SNP	1.000	T
SFI1	9814	genome.wustl.edu	37	22	31971257	31971260	+	Frame_Shift_Del	DEL	ATAC	ATAC	-	rs5753700	byFrequency	TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	ATAC	ATAC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr22:31971257_31971260delATAC	ENST00000400288.2	+	10	1068_1071	c.963_966delATAC	c.(961-966)atatacfs	p.IY321fs	SFI1_ENST00000443326.1_Frame_Shift_Del_p.IY239fs|SFI1_ENST00000540643.1_Frame_Shift_Del_p.IY297fs|SFI1_ENST00000414585.1_Frame_Shift_Del_p.IY168fs|SFI1_ENST00000432498.1_Frame_Shift_Del_p.IY321fs|SFI1_ENST00000400289.1_Frame_Shift_Del_p.IY239fs|SFI1_ENST00000443011.1_Frame_Shift_Del_p.IY168fs	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	321					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.Y322fs*70(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TGCTCCAGATATACTTCTGTGACT	0.544																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.963_966delATAC	22.37:g.31971257_31971260delATAC	ENSP00000383145:p.Ile321fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Frame_Shift_Del	DEL	superfamily_Cyclin-like	p.Y322fs	ENST00000400288.2	37	c.963_966	CCDS43004.1	22																																																																																			SFI1	-	NULL	ENSG00000198089		0.544	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SFI1	HGNC	protein_coding	OTTHUMT00000337180.3	114	0.00	0	ATAC	NM_014775		31971257	31971260	+1	no_errors	ENST00000400288	ensembl	human	known	69_37n	frame_shift_del	97	27.61	37	DEL	0.006:0.016:0.395:0.766	-
SHROOM2	357	genome.wustl.edu	37	X	9863334	9863335	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	GC	GC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chrX:9863334_9863335delGC	ENST00000380913.3	+	4	1476_1477	c.1386_1387delGC	c.(1384-1389)gggctcfs	p.L463fs		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	463					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AGGTGAGGGGGCTCAGCAGCTG	0.678																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.1386_1387delGC	X.37:g.9863334_9863335delGC	ENSP00000370299:p.Leu463fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIQ7	Frame_Shift_Del	DEL	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L463fs	ENST00000380913.3	37	c.1386_1387	CCDS14135.1	X																																																																																			SHROOM2	-	NULL	ENSG00000146950		0.678	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	15	0.00	0	GC	NM_001649		9863334	9863335	+1	no_errors	ENST00000380913	ensembl	human	known	69_37n	frame_shift_del	9	30.77	4	DEL	0.000:0.000	-
SIN3A	25942	genome.wustl.edu	37	15	75688794	75688794	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr15:75688794A>G	ENST00000394947.3	-	13	2212	c.1898T>C	c.(1897-1899)cTg>cCg	p.L633P	SIN3A_ENST00000394949.4_Missense_Mutation_p.L633P|SIN3A_ENST00000360439.4_Missense_Mutation_p.L633P	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.L633P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TATTGCTTCCAGAACCCGGAT	0.448																																						dbGAP											1	Substitution - Missense(1)	breast(1)											77.0	75.0	76.0					15																	75688794		2197	4294	6491	-	-	-	SO:0001583	missense	0			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.1898T>C	15.37:g.75688794A>G	ENSP00000378402:p.Leu633Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.L633P	ENST00000394947.3	37	c.1898	CCDS10279.1	15	.	.	.	.	.	.	.	.	.	.	A	26.4	4.737701	0.89573	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.63417	-0.04;-0.04;-0.04	6.07	6.07	0.98685	Histone deacetylase interacting (2);	0.000000	0.85682	D	0.000000	D	0.85418	0.5692	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89609	0.3840	10	0.87932	D	0	-14.1311	15.8218	0.78654	1.0:0.0:0.0:0.0	.	633	Q96ST3	SIN3A_HUMAN	P	633	ENSP00000378402:L633P;ENSP00000378403:L633P;ENSP00000353622:L633P	ENSP00000353622:L633P	L	-	2	0	SIN3A	73475847	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.291000	0.96070	2.326000	0.78906	0.533000	0.62120	CTG	SIN3A	-	pfam_HDAC_interact,smart_HDAC_interact	ENSG00000169375		0.448	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	HGNC	protein_coding	OTTHUMT00000286469.1	185	0.00	0	A	NM_015477		75688794	75688794	-1	no_errors	ENST00000360439	ensembl	human	known	69_37n	missense	84	45.45	70	SNP	1.000	G
SLCO1B3	28234	genome.wustl.edu	37	12	21033820	21033820	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr12:21033820C>G	ENST00000381545.3	+	12	1582	c.1363C>G	c.(1363-1365)Cca>Gca	p.P455A	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.P455A|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.P455A|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.P455A|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	455	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.P455A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TGTAGATGTACCACTTTCTTA	0.383																																						dbGAP											1	Substitution - Missense(1)	breast(1)											143.0	137.0	139.0					12																	21033820		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1363C>G	12.37:g.21033820C>G	ENSP00000370956:p.Pro455Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EMT8|Q5JAR4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.P455A	ENST00000381545.3	37	c.1363	CCDS8684.1	12	.	.	.	.	.	.	.	.	.	.	.	0.015	-1.557125	0.00910	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	3.8	2.87	0.33458	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.38663	N	0.001604	T	0.42698	0.1214	L	0.53617	1.68	0.58432	D	0.99999	D;B;B	0.63046	0.992;0.082;0.082	D;B;B	0.63033	0.91;0.105;0.105	T	0.36432	-0.9748	10	0.19590	T	0.45	.	4.5941	0.12322	0.2207:0.6634:0.0:0.1159	.	455;455;455	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	A	455;455;455;279;455	ENSP00000261196:P455A;ENSP00000370956:P455A;ENSP00000451758:P455A;ENSP00000443225:P279A;ENSP00000441269:P455A	ENSP00000441269:P455A	P	+	1	0	SLCO1B3;RP11-545J16.1	20925087	0.020000	0.18652	0.997000	0.53966	0.454000	0.32378	0.117000	0.15583	0.886000	0.36113	0.467000	0.42956	CCA	SLCO1B3	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000111700		0.383	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	SLCO1B3	HGNC	protein_coding	OTTHUMT00000401936.1	226	0.00	0	C	NM_019844		21033820	21033820	+1	no_errors	ENST00000553473	ensembl	human	known	69_37n	missense	114	28.75	46	SNP	0.751	G
SORL1	6653	genome.wustl.edu	37	11	121416050	121416051	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr11:121416050_121416051insC	ENST00000260197.7	+	14	2092_2093	c.1963_1964insC	c.(1963-1965)accfs	p.T655fs	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	655					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAAACGGCGGACCCCCCATGCC	0.545																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1969dupC	11.37:g.121416056_121416056dupC	ENSP00000260197:p.Thr655fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNX7|Q92856	Frame_Shift_Ins	INS	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.H657fs	ENST00000260197.7	37	c.1963_1964	CCDS8436.1	11																																																																																			SORL1	-	smart_VPS10	ENSG00000137642		0.545	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	41	0.00	0	-	NM_003105		121416050	121416051	+1	no_errors	ENST00000260197	ensembl	human	known	69_37n	frame_shift_ins	17	10.53	2	INS	1.000:0.997	C
SPECC1	92521	genome.wustl.edu	37	17	20135652	20135652	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr17:20135652G>A	ENST00000261503.5	+	7	2336	c.2285G>A	c.(2284-2286)cGg>cAg	p.R762Q	SPECC1_ENST00000395529.3_Missense_Mutation_p.R762Q|SPECC1_ENST00000395522.2_Missense_Mutation_p.R681Q|SPECC1_ENST00000395525.3_Missense_Mutation_p.R681Q|SPECC1_ENST00000472876.1_3'UTR|SPECC1_ENST00000395530.2_Missense_Mutation_p.R681Q|SPECC1_ENST00000395527.4_Missense_Mutation_p.R762Q|SPECC1_ENST00000536879.1_Missense_Mutation_p.R102Q|SPECC1_ENST00000584527.1_Missense_Mutation_p.R180Q|AC004702.2_ENST00000580225.1_lincRNA	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	762					cell adhesion (GO:0007155)	nucleus (GO:0005634)		p.R762Q(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AAGAATGCCCGGTTGCAGAAG	0.642																																						dbGAP											1	Substitution - Missense(1)	breast(1)											33.0	34.0	34.0					17																	20135652		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.2285G>A	17.37:g.20135652G>A	ENSP00000261503:p.Arg762Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.R762Q	ENST00000261503.5	37	c.2285	CCDS32590.1	17	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568398	0.65651	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000536879;ENST00000395522;ENST00000395527;ENST00000395525	T;T;D;D;D	0.82255	0.86;0.86;-1.59;-1.59;-1.59	4.22	4.22	0.49857	.	0.185633	0.56097	D	0.000025	T	0.78855	0.4349	L	0.47716	1.5	0.34373	D	0.692307	P;D;D;D;P	0.57899	0.944;0.981;0.981;0.981;0.944	B;B;B;B;B	0.42882	0.217;0.401;0.401;0.401;0.279	D	0.85856	0.1407	10	0.51188	T	0.08	-32.0213	14.8874	0.70579	0.0:0.0:1.0:0.0	.	762;681;681;762;762	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	Q	762;762;762;102;681;681;681	ENSP00000261503:R762Q;ENSP00000378900:R762Q;ENSP00000438294:R102Q;ENSP00000378893:R681Q;ENSP00000378896:R681Q	ENSP00000261503:R762Q	R	+	2	0	SPECC1	20076244	0.985000	0.35326	0.962000	0.40283	0.901000	0.52897	1.236000	0.32683	2.636000	0.89361	0.655000	0.94253	CGG	SPECC1	-	NULL	ENSG00000128487		0.642	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1	HGNC	protein_coding	OTTHUMT00000441206.1	40	0.00	0	G	NM_152904		20135652	20135652	+1	no_errors	ENST00000261503	ensembl	human	known	69_37n	missense	26	31.58	12	SNP	0.949	A
TFCP2	7024	genome.wustl.edu	37	12	51501078	51501078	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr12:51501078G>A	ENST00000257915.5	-	7	1227	c.769C>T	c.(769-771)Cga>Tga	p.R257*	TFCP2_ENST00000548115.1_Nonsense_Mutation_p.R206*|TFCP2_ENST00000307660.4_Nonsense_Mutation_p.R206*|TFCP2_ENST00000549867.1_Nonsense_Mutation_p.R257*	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	257	DNA-binding.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R257*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						TGAGGTGTTCGTTTCTCCATT	0.353																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											274.0	264.0	267.0					12																	51501078		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.769C>T	12.37:g.51501078G>A	ENSP00000257915:p.Arg257*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5E9|Q12801|Q9UD75|Q9UD77	Nonsense_Mutation	SNP	pfam_CP2,superfamily_SAM/pointed	p.R257*	ENST00000257915.5	37	c.769	CCDS8808.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.115778	0.94339	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000549867;ENST00000548115;ENST00000548108	.	.	.	5.26	2.25	0.28309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9635	4.957	0.14046	0.0755:0.1254:0.5421:0.257	.	.	.	.	X	257;206;257;206;159	.	ENSP00000257915:R257X	R	-	1	2	TFCP2	49787345	0.022000	0.18835	0.986000	0.45419	0.006000	0.05464	-0.149000	0.10204	0.722000	0.32252	0.650000	0.86243	CGA	TFCP2	-	pfam_CP2	ENSG00000135457		0.353	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFCP2	HGNC	protein_coding	OTTHUMT00000405119.1	337	0.00	0	G	NM_005653		51501078	51501078	-1	no_errors	ENST00000257915	ensembl	human	known	69_37n	nonsense	241	20.72	63	SNP	1.000	A
TMC5	79838	genome.wustl.edu	37	16	19490813	19490813	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr16:19490813T>A	ENST00000396229.2	+	14	2979	c.2230T>A	c.(2230-2232)Tct>Act	p.S744T	CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000564959.1_Missense_Mutation_p.S427T|TMC5_ENST00000381414.4_Missense_Mutation_p.S744T|TMC5_ENST00000541464.1_Missense_Mutation_p.S692T|TMC5_ENST00000542583.2_Missense_Mutation_p.S744T|TMC5_ENST00000219821.5_Missense_Mutation_p.S498T|TMC5_ENST00000561503.1_Missense_Mutation_p.S385T	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	744					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S744T(1)|p.S498T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTTTGTGTTCTCTTTAGTCAA	0.473																																						dbGAP											2	Substitution - Missense(2)	breast(2)											250.0	256.0	254.0					16																	19490813		2197	4300	6497	-	-	-	SO:0001583	missense	0			AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2230T>A	16.37:g.19490813T>A	ENSP00000379531:p.Ser744Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	pfam_TMC	p.S744T	ENST00000396229.2	37	c.2230	CCDS45431.1	16	.	.	.	.	.	.	.	.	.	.	T	10.47	1.359379	0.24598	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	5.15	2.75	0.32379	.	0.292700	0.35207	N	0.003365	T	0.30823	0.0777	N	0.03948	-0.315	0.32193	N	0.578813	B;B;B;B;P;P	0.37207	0.335;0.044;0.079;0.097;0.587;0.532	B;B;B;B;B;B	0.39027	0.122;0.027;0.069;0.079;0.288;0.19	T	0.48364	-0.9042	10	0.02654	T	1	-9.1731	7.7646	0.28972	0.1222:0.0:0.2446:0.6332	.	692;427;498;498;744;744	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	T	692;744;744;744;498;427	ENSP00000441227:S692T;ENSP00000370822:S744T;ENSP00000379531:S744T;ENSP00000446274:S744T;ENSP00000219821:S498T	ENSP00000219821:S498T	S	+	1	0	TMC5	19398314	0.669000	0.27502	0.999000	0.59377	0.899000	0.52679	0.689000	0.25437	1.932000	0.55993	0.454000	0.30748	TCT	TMC5	-	pfam_TMC	ENSG00000103534		0.473	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC5	HGNC	protein_coding	OTTHUMT00000435888.1	306	0.00	0	T	NM_024780		19490813	19490813	+1	no_errors	ENST00000396229	ensembl	human	known	69_37n	missense	260	31.77	122	SNP	0.833	A
TMEM43	79188	genome.wustl.edu	37	3	14170983	14170983	+	Silent	SNP	G	G	A			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr3:14170983G>A	ENST00000306077.4	+	2	338	c.84G>A	c.(82-84)cgG>cgA	p.R28R		NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	28					nuclear membrane organization (GO:0071763)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.R28R(1)		breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						TCCTGGAACGGCTGAGCGAGA	0.488																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											102.0	100.0	101.0					3																	14170983		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC008054	CCDS2618.1	3p25.1	2014-09-17			ENSG00000170876	ENSG00000170876			28472	protein-coding gene	gene with protein product		612048	"""arrhythmogenic right ventricular dysplasia 5"""	ARVD5		11230166, 18313022	Standard	NM_024334		Approved	MGC3222, DKFZp586G1919, LUMA	uc003byk.2	Q9BTV4	OTTHUMG00000129802	ENST00000306077.4:c.84G>A	3.37:g.14170983G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7L4N5|Q8NC30|Q96A63|Q96F19|Q96JX0|Q9H076	Silent	SNP	pfam_TMEM43_fam	p.R28	ENST00000306077.4	37	c.84	CCDS2618.1	3																																																																																			TMEM43	-	NULL	ENSG00000170876		0.488	TMEM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM43	HGNC	protein_coding	OTTHUMT00000252030.2	63	0.00	0	G	NM_024334		14170983	14170983	+1	no_errors	ENST00000306077	ensembl	human	known	69_37n	silent	84	10.64	10	SNP	0.997	A
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> 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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	-	-	-	SO:0001583	missense	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	Somatic		WXS	Illumina GAIIx	Phase_IV	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	Missense_Mutation	SNP	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.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	115	0.00	0	C	NM_000546		7578406	7578406	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	26	73.47	72	SNP	1.000	T
TP53BP1	7158	genome.wustl.edu	37	15	43708431	43708431	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr15:43708431A>C	ENST00000263801.3	-	22	5102	c.4850T>G	c.(4849-4851)aTc>aGc	p.I1617S	TP53BP1_ENST00000382044.4_Missense_Mutation_p.I1622S|TP53BP1_ENST00000450115.2_Missense_Mutation_p.I1622S|TP53BP1_ENST00000382039.3_Missense_Mutation_p.I1572S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1617					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.I1617S(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ACCTAAGCTGATATCTGCTGC	0.483								Other conserved DNA damage response genes																														dbGAP											1	Substitution - Missense(1)	breast(1)											136.0	117.0	123.0					15																	43708431		2201	4298	6499	-	-	-	SO:0001583	missense	0			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4850T>G	15.37:g.43708431A>C	ENSP00000263801:p.Ile1617Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.I1622S	ENST00000263801.3	37	c.4865	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	A	23.8	4.454315	0.84209	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.07216	3.21;3.21;3.37;3.26	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;1.0;1.0	D;D;D;D	0.87578	0.986;0.996;0.998;0.998	T	0.00326	-1.1815	10	0.39692	T	0.17	-10.8017	16.0315	0.80582	1.0:0.0:0.0:0.0	.	1622;1617;1622;1622	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	S	1617;1622;1572;1622	ENSP00000263801:I1617S;ENSP00000371475:I1622S;ENSP00000371470:I1572S;ENSP00000393497:I1622S	ENSP00000263801:I1617S	I	-	2	0	TP53BP1	41495723	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.851000	0.92205	2.247000	0.74100	0.482000	0.46254	ATC	TP53BP1	-	NULL	ENSG00000067369		0.483	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	246	0.00	0	A			43708431	43708431	-1	no_errors	ENST00000382044	ensembl	human	known	69_37n	missense	116	42.86	87	SNP	1.000	C
TRA2B	6434	genome.wustl.edu	37	3	185641773	185641773	+	Splice_Site	SNP	C	C	G			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr3:185641773C>G	ENST00000453386.2	-	4	609		c.e4-1		TRA2B_ENST00000382191.4_Splice_Site|TRA2B_ENST00000471134.1_5'Flank	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)						mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.?(1)		breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						CAGGATTTGCCTAGGGAAAAA	0.353																																						dbGAP											1	Unknown(1)	breast(1)											57.0	53.0	54.0					3																	185641773		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"""RNA binding motif (RRM) containing"""	10781	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 156"""	602719	"""splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"""	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.334-1G>C	3.37:g.185641773C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVK2|D3DNU3|O15449|Q15815|Q64283	Splice_Site	SNP	-	e4-1	ENST00000453386.2	37	c.334-1	CCDS33905.1	3	.	.	.	.	.	.	.	.	.	.	C	17.65	3.440939	0.63067	.	.	ENSG00000136527	ENST00000453386;ENST00000382191	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.227	0.54465	0.0:0.9216:0.0:0.0784	.	.	.	.	.	-1	.	.	.	-	.	.	TRA2B	187124467	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.818000	0.86416	2.767000	0.95098	0.655000	0.94253	.	TRA2B	-	-	ENSG00000136527		0.353	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2B	HGNC	protein_coding	OTTHUMT00000344984.1	98	0.00	0	C	NM_004593	Intron	185641773	185641773	-1	no_errors	ENST00000453386	ensembl	human	known	69_37n	splice_site	106	13.11	16	SNP	1.000	G
UBE2D2	7322	genome.wustl.edu	37	5	138994342	138994342	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr5:138994342C>T	ENST00000398733.3	+	4	807	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	UBE2D2_ENST00000505548.1_Missense_Mutation_p.P32S|UBE2D2_ENST00000253815.2_Missense_Mutation_p.P32S|UBE2D2_ENST00000511725.1_Missense_Mutation_p.P32S	NM_003339.2	NP_003330.1	P62837	UB2D2_HUMAN	ubiquitin-conjugating enzyme E2D 2	61					cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AACAGATTACCCCTTCAAACC	0.323																																						dbGAP											0													90.0	87.0	88.0					5																	138994342		1996	4212	6208	-	-	-	SO:0001583	missense	0			L40146	CCDS43369.1, CCDS47275.1	5q31.2	2013-10-18	2011-05-19		ENSG00000131508	ENSG00000131508		"""Ubiquitin-conjugating enzymes E2"""	12475	protein-coding gene	gene with protein product		602962	"""ubiquitin-conjugating enzyme E2D 2 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast)"""			8530467	Standard	NM_181838		Approved	UbcH5B, UBC4	uc003ler.3	P62837	OTTHUMG00000163282	ENST00000398733.3:c.181C>T	5.37:g.138994342C>T	ENSP00000381717:p.Pro61Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQC9|P51669|Q3MN78|Q96RP6	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.P61S	ENST00000398733.3	37	c.181	CCDS43369.1	5	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813148	0.90707	.	.	ENSG00000131508	ENST00000511725;ENST00000398733;ENST00000253815;ENST00000505007;ENST00000398734;ENST00000505548	D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	5.77	5.77	0.91146	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.96364	0.8814	H	0.99600	4.65	0.80722	D	1	D	0.61697	0.99	D	0.72338	0.977	D	0.97869	1.0285	10	0.87932	D	0	.	19.9818	0.97329	0.0:1.0:0.0:0.0	.	61	P62837	UB2D2_HUMAN	S	32;61;32;32;61;32	ENSP00000429613:P32S;ENSP00000381717:P61S;ENSP00000253815:P32S;ENSP00000426523:P32S;ENSP00000381718:P61S;ENSP00000424941:P32S	ENSP00000253815:P32S	P	+	1	0	UBE2D2	138974526	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.717000	0.92951	0.462000	0.41574	CCC	UBE2D2	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000131508		0.323	UBE2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2D2	HGNC	protein_coding	OTTHUMT00000372454.3	198	0.50	1	C	NM_181838		138994342	138994342	+1	no_errors	ENST00000398733	ensembl	human	known	69_37n	missense	156	16.58	31	SNP	1.000	T
USP15	9958	genome.wustl.edu	37	12	62749215	62749215	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr12:62749215A>G	ENST00000280377.5	+	8	932	c.874A>G	c.(874-876)Agt>Ggt	p.S292G	USP15_ENST00000353364.3_Missense_Mutation_p.S263G|USP15_ENST00000393654.3_Missense_Mutation_p.S267G	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	292	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CTGTGGCCTAAGTAACTTGGG	0.368																																					Melanoma(181;615 2041 39364 49691 50001)	dbGAP											0													104.0	97.0	100.0					12																	62749215		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.874A>G	12.37:g.62749215A>G	ENSP00000280377:p.Ser292Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.S292G	ENST00000280377.5	37	c.874	CCDS58251.1	12	.	.	.	.	.	.	.	.	.	.	A	10.03	1.238880	0.22711	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.32753	1.44;1.44;1.44	5.6	5.6	0.85130	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.235449	0.51477	D	0.000097	T	0.28400	0.0702	L	0.37697	1.125	0.54753	D	0.999981	B;B	0.23377	0.084;0.038	B;B	0.29942	0.086;0.109	T	0.05683	-1.0870	9	.	.	.	-15.1731	15.7844	0.78291	1.0:0.0:0.0:0.0	.	292;263	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	G	263;292;267	ENSP00000258123:S263G;ENSP00000280377:S292G;ENSP00000377264:S267G	.	S	+	1	0	USP15	61035482	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.234000	0.72326	2.141000	0.66446	0.455000	0.32223	AGT	USP15	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000135655		0.368	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP15	HGNC	protein_coding	OTTHUMT00000407831.2	99	0.00	0	A	NM_006313		62749215	62749215	+1	no_errors	ENST00000280377	ensembl	human	known	69_37n	missense	44	47.62	40	SNP	1.000	G
VCPIP1	80124	genome.wustl.edu	37	8	67579088	67579089	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr8:67579088_67579089insC	ENST00000310421.4	-	1	363_364	c.105_106insG	c.(103-108)gggcttfs	p.L36fs	C8orf44_ENST00000519561.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	36					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.L36fs*51(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CGCTTCAAAAGCCCCCCCGAAG	0.678																																					NSCLC(179;265 2915 6144 43644)	dbGAP											1	Insertion - Frameshift(1)	kidney(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.106dupG	8.37:g.67579095_67579095dupC	ENSP00000309031:p.Leu36fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Frame_Shift_Ins	INS	pfam_OTU,pfscan_OTU	p.L35fs	ENST00000310421.4	37	c.106_105	CCDS6192.1	8																																																																																			VCPIP1	-	NULL	ENSG00000175073		0.678	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCPIP1	HGNC	protein_coding	OTTHUMT00000379227.1	14	0.00	0	-			67579088	67579089	-1	no_errors	ENST00000310421	ensembl	human	known	69_37n	frame_shift_ins	29	12.12	4	INS	1.000:0.991	C
VGLL3	389136	genome.wustl.edu	37	3	87017995	87017995	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr3:87017995G>A	ENST00000398399.2	-	3	1045	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	VGLL3_ENST00000383698.3_Missense_Mutation_p.R228W	NM_016206.2	NP_057290.2			vestigial-like family member 3									p.R228W(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TGGTGGTGCCGCATGTACACG	0.612																																						dbGAP											1	Substitution - Missense(1)	breast(1)											92.0	93.0	93.0					3																	87017995		2180	4284	6464	-	-	-	SO:0001583	missense	0			AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.682C>T	3.37:g.87017995G>A	ENSP00000381436:p.Arg228Trp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Vg_Tdu,smart_TDU_repeat	p.R228W	ENST00000398399.2	37	c.682	CCDS43110.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.31|19.31	3.802435|3.802435	0.70682|0.70682	.|.	.|.	ENSG00000206538|ENSG00000206538	ENST00000494229|ENST00000398399;ENST00000383698	.|T;T	.|0.46451	.|0.87;0.88	5.81|5.81	4.89|4.89	0.63831|0.63831	.|.	.|0.396637	.|0.23523	.|N	.|0.047269	T|T	0.28167|0.28167	0.0695|0.0695	N|N	0.22421|0.22421	0.69|0.69	0.26973|0.26973	N|N	0.965531|0.965531	.|P	.|0.51653	.|0.947	.|B	.|0.41299	.|0.353	T|T	0.15464|0.15464	-1.0436|-1.0436	5|10	.|0.62326	.|D	.|0.03	-10.5859|-10.5859	8.5415|8.5415	0.33395|0.33395	0.0749:0.0:0.7388:0.1863|0.0749:0.0:0.7388:0.1863	.|.	.|228	.|A8MV65	.|VGLL3_HUMAN	V|W	161|228	.|ENSP00000381436:R228W;ENSP00000373199:R228W	.|ENSP00000373199:R228W	A|R	-|-	2|1	0|2	VGLL3|VGLL3	87100685|87100685	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.617000|2.617000	0.46385|0.46385	1.291000|1.291000	0.44653|0.44653	0.511000|0.511000	0.50034|0.50034	GCG|CGG	VGLL3	-	NULL	ENSG00000206538		0.612	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VGLL3	HGNC	protein_coding	OTTHUMT00000352805.1	81	0.00	0	G	NM_016206		87017995	87017995	-1	no_errors	ENST00000398399	ensembl	human	known	69_37n	missense	103	22.56	30	SNP	1.000	A
VPS13B	157680	genome.wustl.edu	37	8	100160153	100160153	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr8:100160153T>C	ENST00000358544.2	+	14	2039	c.1928T>C	c.(1927-1929)gTt>gCt	p.V643A	VPS13B_ENST00000355155.1_Missense_Mutation_p.V643A|VPS13B_ENST00000357162.2_Missense_Mutation_p.V643A|VPS13B_ENST00000395996.1_Missense_Mutation_p.V643A	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	643					protein transport (GO:0015031)			p.V643A(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CATACAAGTGTTACTCTCCTC	0.353																																					Colon(161;2205 2542 7338 31318)	dbGAP											2	Substitution - Missense(2)	breast(2)											177.0	171.0	174.0					8																	100160153		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1928T>C	8.37:g.100160153T>C	ENSP00000351346:p.Val643Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.V643A	ENST00000358544.2	37	c.1928	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	T	17.45	3.393103	0.62066	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.79845	-1.31;-0.63;-0.62;-0.32	5.04	5.04	0.67666	.	0.587434	0.15580	N	0.254983	T	0.70029	0.3177	L	0.27053	0.805	0.43168	D	0.99496	B;B;B;B;B	0.34329	0.042;0.136;0.084;0.277;0.449	B;B;B;B;B	0.26094	0.049;0.053;0.024;0.049;0.066	T	0.73075	-0.4097	10	0.72032	D	0.01	.	15.0659	0.71996	0.0:0.0:0.0:1.0	.	643;643;643;643;643	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;.;VP13B_HUMAN;.;.	A	643	ENSP00000347281:V643A;ENSP00000349685:V643A;ENSP00000351346:V643A;ENSP00000379318:V643A	ENSP00000347281:V643A	V	+	2	0	VPS13B	100229329	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.231000	0.78106	2.009000	0.58944	0.460000	0.39030	GTT	VPS13B	-	NULL	ENSG00000132549		0.353	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	409	0.00	0	T	NM_184042		100160153	100160153	+1	no_errors	ENST00000358544	ensembl	human	known	69_37n	missense	848	19.20	202	SNP	1.000	C
WNT9A	7483	genome.wustl.edu	37	1	228111953	228111954	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr1:228111953_228111954insC	ENST00000272164.5	-	3	510_511	c.500_501insG	c.(499-501)ggcfs	p.G167fs		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	167					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.G167fs*38(1)|p.C168fs*6(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TGTCTCCGCAGCCCCCCCACTG	0.629																																						dbGAP											2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(1)|pancreas(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.501dupG	1.37:g.228111960_228111960dupC	ENSP00000272164:p.Gly167fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Frame_Shift_Ins	INS	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt14	p.C168fs	ENST00000272164.5	37	c.501_500	CCDS31045.1	1																																																																																			WNT9A	-	pfam_Wnt,smart_Wnt,prints_Wnt	ENSG00000143816		0.629	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT9A	HGNC	protein_coding	OTTHUMT00000091646.1	25	0.00	0	-	NM_003395		228111953	228111954	-1	no_errors	ENST00000272164	ensembl	human	known	69_37n	frame_shift_ins	21	12.50	3	INS	1.000:1.000	C
ZNF366	167465	genome.wustl.edu	37	5	71752236	71752236	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A03O-01A-11W-A019-09	TCGA-AO-A03O-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1578b356-7f42-4722-bc54-cd5f37954f6a	4b2392a1-ce32-47dd-83d2-be2342be7a58	g.chr5:71752236A>T	ENST00000318442.5	-	3	2009	c.1519T>A	c.(1519-1521)Tgc>Agc	p.C507S		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	507	Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.C507S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CCCACCTTGCATTTGAAAGGC	0.552																																						dbGAP											1	Substitution - Missense(1)	breast(1)											264.0	237.0	246.0					5																	71752236		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1519T>A	5.37:g.71752236A>T	ENSP00000313158:p.Cys507Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HYI9|Q7RTV4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C507S	ENST00000318442.5	37	c.1519	CCDS4015.1	5	.	.	.	.	.	.	.	.	.	.	A	29.2	4.986328	0.93044	.	.	ENSG00000178175	ENST00000318442	D	0.85171	-1.95	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	D	0.95101	0.8413	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96713	0.9527	10	0.87932	D	0	-35.4874	15.8232	0.78676	1.0:0.0:0.0:0.0	.	507	Q8N895	ZN366_HUMAN	S	507	ENSP00000313158:C507S	ENSP00000313158:C507S	C	-	1	0	ZNF366	71787992	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.305000	0.96197	2.148000	0.66965	0.529000	0.55759	TGC	ZNF366	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000178175		0.552	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF366	HGNC	protein_coding	OTTHUMT00000218574.3	191	0.00	0	A			71752236	71752236	-1	no_errors	ENST00000318442	ensembl	human	known	69_37n	missense	120	27.38	46	SNP	1.000	T
