#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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ACACA	31	genome.wustl.edu	37	17	35598921	35598921	+	Missense_Mutation	SNP	C	C	G			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr17:35598921C>G	ENST00000394406.2	-	23	3059	c.2869G>C	c.(2869-2871)Gaa>Caa	p.E957Q	ACACA_ENST00000353139.5_Missense_Mutation_p.E994Q|ACACA_ENST00000335166.5_Missense_Mutation_p.E879Q|ACACA_ENST00000360679.3_Missense_Mutation_p.E899Q	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	957					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)			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)	ACTTCCCGTTCAGATTTCCGG	0.423																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													139.0	124.0	129.0					17																	35598921		2203	4300	6503	SO:0001583	missense	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.2869G>C	17.37:g.35598921C>G	ENSP00000377928:p.Glu957Gln		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_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_dom,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.E994Q	ENST00000394406.2	37	c.2980	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725496	0.89298	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	4.89	4.89	0.63831	Acetyl-CoA carboxylase, central domain (1);	0.048663	0.85682	D	0.000000	T	0.71804	0.3383	L	0.52126	1.63	0.80722	D	1	B;B;B	0.29508	0.246;0.064;0.052	P;B;B	0.48598	0.583;0.098;0.087	T	0.72779	-0.4190	10	0.56958	D	0.05	-16.6877	17.2142	0.86938	0.0:1.0:0.0:0.0	.	994;957;899	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	Q	994;899;957;981;879	ENSP00000344789:E994Q;ENSP00000353898:E899Q;ENSP00000377928:E957Q;ENSP00000335323:E879Q	ENSP00000335323:E879Q	E	-	1	0	ACACA	32673034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.535000	0.85469	0.591000	0.81541	GAA	ACACA	-	pfam_AcCoA_COase_cen	ENSG00000132142		0.423	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	-	0.00	38	0	C	NM_198836		35598921	-1	tier1	-	no_errors	ENST00000353139	ensembl	human	known	74_37	missense	23.53	37	12	SNP	0.996	G
ACRC	93953	genome.wustl.edu	37	X	70823523	70823523	+	Silent	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chrX:70823523C>T	ENST00000373695.1	+	7	933	c.396C>T	c.(394-396)aaC>aaT	p.N132N	ACRC_ENST00000373696.3_Silent_p.N132N			Q96QF7	ACRC_HUMAN	acidic repeat containing	132	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					ACGATGACAACGGTAATGATT	0.453																																																	0													196.0	174.0	181.0					X																	70823523		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.396C>T	X.37:g.70823523C>T			B9EG62	Silent	SNP	pfam_SprT-like_domain,smart_SprT-like_domain	p.N132	ENST00000373695.1	37	c.396	CCDS35326.1	X																																																																																			ACRC	-	NULL	ENSG00000147174		0.453	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACRC	HGNC	protein_coding	OTTHUMT00000081856.1	-	0.00	137	0	C			70823523	+1	tier1	-	no_errors	ENST00000373695	ensembl	human	known	74_37	silent	26.83	60	22	SNP	0.000	T
ADAMTS9	56999	genome.wustl.edu	37	3	64532472	64532472	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:64532472G>T	ENST00000498707.1	-	32	5368	c.5026C>A	c.(5026-5028)Cct>Act	p.P1676T	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.P1648T	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1676	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GCCGAGACAGGGCAGTCCCTC	0.537																																																	0													107.0	106.0	106.0					3																	64532472		2203	4300	6503	SO:0001583	missense	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5026C>A	3.37:g.64532472G>T	ENSP00000418735:p.Pro1676Thr		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	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,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.P1676T	ENST00000498707.1	37	c.5026	CCDS2903.1	3	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605239	0.46423	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.60548	0.18;0.18	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.67031	0.2850	M	0.84326	2.69	0.80722	D	1	P;P	0.51449	0.945;0.945	P;P	0.47251	0.459;0.542	T	0.66885	-0.5810	10	0.16420	T	0.52	.	19.1009	0.93274	0.0:0.0:1.0:0.0	.	1648;1676	B7ZVX9;Q9P2N4	.;ATS9_HUMAN	T	1648;1676	ENSP00000295903:P1648T;ENSP00000418735:P1676T	ENSP00000295903:P1648T	P	-	1	0	ADAMTS9	64507512	1.000000	0.71417	0.984000	0.44739	0.847000	0.48162	7.138000	0.77305	2.509000	0.84616	0.655000	0.94253	CCT	ADAMTS9	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000163638		0.537	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	-	0.00	41	0	G			64532472	-1	tier1	-	no_errors	ENST00000498707	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T
ADCK3	56997	genome.wustl.edu	37	1	227171737	227171737	+	Intron	SNP	G	G	T	rs1574184|rs375918113|rs201300405	byFrequency	TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:227171737G>T	ENST00000366779.1	+	16	4027				ADCK3_ENST00000366778.1_Intron|ADCK3_ENST00000366777.3_Intron|ADCK3_ENST00000433743.2_Intron|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000478406.1_3'UTR			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3						cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GGTGTGTGTGGGGGGGGGGAC	0.677													G|||	1408	0.28115	0.2829	0.2767	5008	,	,		12588	0.2421		0.3877	False		,,,				2504	0.2127																0																																										SO:0001627	intron_variant	0			AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1257-58G>T	1.37:g.227171737G>T			Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	RNA	SNP	-	NULL	ENST00000366779.1	37	NULL	CCDS1557.1	1																																																																																			ADCK3	-	-	ENSG00000163050		0.677	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADCK3	HGNC	protein_coding	OTTHUMT00000091712.1	-	0.00	34	0	G	NM_020247		227171737	+1	tier1	rs1574184	no_errors	ENST00000478406	ensembl	human	known	74_37	rna	37.21	27	16	SNP	0.000	T
ALCAM	214	genome.wustl.edu	37	3	105264106	105264106	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:105264106G>T	ENST00000306107.5	+	9	1531	c.1031G>T	c.(1030-1032)aGa>aTa	p.R344I	ALCAM_ENST00000389927.4_Missense_Mutation_p.R66I|ALCAM_ENST00000486979.2_Missense_Mutation_p.R293I|ALCAM_ENST00000472644.2_Missense_Mutation_p.R344I|ALCAM_ENST00000481337.1_3'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	344	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GAAGTGACTAGACAGATTGGT	0.388																																																	0													168.0	160.0	162.0					3																	105264106		2203	4300	6503	SO:0001583	missense	0			AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.1031G>T	3.37:g.105264106G>T	ENSP00000305988:p.Arg344Ile		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom	p.R344I	ENST00000306107.5	37	c.1031	CCDS33810.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.14|15.14	2.744930|2.744930	0.49151|0.49151	.|.	.|.	ENSG00000170017|ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979;ENST00000389927|ENST00000465413	T;T;T;T|.	0.73363|.	-0.74;-0.74;-0.74;-0.74|.	5.16|5.16	2.73|2.73	0.32206|0.32206	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);|.	0.094538|.	0.64402|.	D|.	0.000001|.	T|.	0.19565|.	0.0470|.	N|N	0.02247|0.02247	-0.625|-0.625	0.47183|0.47183	D|D	0.999341|0.999341	P;B;B|.	0.49696|.	0.927;0.021;0.301|.	P;B;B|.	0.48952|.	0.596;0.027;0.137|.	T|.	0.03750|.	-1.1007|.	10|.	0.48119|.	T|.	0.1|.	-6.3164|-6.3164	6.6554|6.6554	0.22984|0.22984	0.787:0.0:0.0765:0.1365|0.787:0.0:0.0765:0.1365	.|.	66;344;344|.	Q6ZS95;B4DTU0;Q13740|.	.;.;CD166_HUMAN|.	I|Y	344;344;293;66|104	ENSP00000305988:R344I;ENSP00000419236:R344I;ENSP00000418213:R293I;ENSP00000374577:R66I|.	ENSP00000305988:R344I|.	R|X	+|+	2|3	0|2	ALCAM|ALCAM	106746796|106746796	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.923000|0.923000	0.55619|0.55619	3.458000|3.458000	0.53014|0.53014	0.350000|0.350000	0.24002|0.24002	-0.471000|-0.471000	0.05019|0.05019	AGA|TAG	ALCAM	-	smart_Ig_sub	ENSG00000170017		0.388	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALCAM	HGNC	protein_coding	OTTHUMT00000353764.1	-	0.00	36	0	G	NM_001627		105264106	+1	tier1	-	no_errors	ENST00000306107	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T
ALDH1A2	8854	genome.wustl.edu	37	15	58284926	58284926	+	Missense_Mutation	SNP	T	T	G			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr15:58284926T>G	ENST00000249750.4	-	7	1542	c.775A>C	c.(775-777)Att>Ctt	p.I259L	ALDH1A2_ENST00000347587.3_Intron|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.I238L|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.I230L|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.I163L	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	259					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	GTGAATGCAATCTTGTCTATG	0.458																																																	0													114.0	107.0	109.0					15																	58284926		2192	4292	6484	SO:0001583	missense	0			AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.775A>C	15.37:g.58284926T>G	ENSP00000249750:p.Ile259Leu		B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.I259L	ENST00000249750.4	37	c.775	CCDS10163.1	15	.	.	.	.	.	.	.	.	.	.	T	15.20	2.763454	0.49574	.	.	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000537372	T;T	0.79352	-1.26;-1.26	5.65	3.31	0.37934	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.056260	0.64402	D	0.000001	T	0.65523	0.2699	L	0.28740	0.885	0.35851	D	0.826769	B;B;B	0.10296	0.002;0.001;0.003	B;B;B	0.23275	0.02;0.012;0.045	T	0.67791	-0.5579	10	0.87932	D	0	.	8.1382	0.31067	0.0:0.2204:0.0:0.7796	.	230;238;259	B4DH89;F5H2Y9;O94788	.;.;AL1A2_HUMAN	L	259;163;230;238	ENSP00000249750:I259L;ENSP00000438296:I238L	ENSP00000249750:I259L	I	-	1	0	ALDH1A2	56072218	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.767000	0.47637	1.166000	0.42689	0.533000	0.62120	ATT	ALDH1A2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000128918		0.458	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A2	HGNC	protein_coding	OTTHUMT00000255869.1	-	0.00	29	0	T			58284926	-1	tier1	-	no_errors	ENST00000249750	ensembl	human	known	74_37	missense	16.42	56	11	SNP	1.000	G
ALPK3	57538	genome.wustl.edu	37	15	85400143	85400143	+	Missense_Mutation	SNP	A	A	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr15:85400143A>T	ENST00000258888.5	+	6	2947	c.2780A>T	c.(2779-2781)gAg>gTg	p.E927V		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	927					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGTCAGTCTGAGCAAGAGGTG	0.577																																																	0													97.0	104.0	102.0					15																	85400143		2203	4299	6502	SO:0001583	missense	0			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2780A>T	15.37:g.85400143A>T	ENSP00000258888:p.Glu927Val		Q9P2L6	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.E927V	ENST00000258888.5	37	c.2780	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	A	12.53	1.965641	0.34659	.	.	ENSG00000136383	ENST00000258888	T	0.69306	-0.39	4.57	2.26	0.28386	.	5.286920	0.00941	U	0.002823	T	0.59689	0.2212	L	0.34521	1.04	0.09310	N	1	B	0.26512	0.151	B	0.31191	0.125	T	0.50882	-0.8775	10	0.87932	D	0	-5.3674	5.5464	0.17065	0.6765:0.0:0.3235:0.0	.	927	Q96L96	ALPK3_HUMAN	V	927	ENSP00000258888:E927V	ENSP00000258888:E927V	E	+	2	0	ALPK3	83201147	0.017000	0.18338	0.002000	0.10522	0.003000	0.03518	0.412000	0.21131	0.614000	0.30107	0.482000	0.46254	GAG	ALPK3	-	NULL	ENSG00000136383		0.577	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	-	0.00	39	0	A	NM_020778		85400143	+1	tier1	-	no_errors	ENST00000258888	ensembl	human	known	74_37	missense	35.42	31	17	SNP	0.003	T
ANKMY1	51281	genome.wustl.edu	37	2	241451391	241451391	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:241451391G>A	ENST00000272972.3	-	10	2120	c.1906C>T	c.(1906-1908)Ctc>Ttc	p.L636F	ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000373318.2_Missense_Mutation_p.L495F|ANKMY1_ENST00000406958.1_Missense_Mutation_p.L397F|ANKMY1_ENST00000401804.1_Missense_Mutation_p.L725F|ANKMY1_ENST00000403283.1_Missense_Mutation_p.L574F|ANKMY1_ENST00000391987.1_Missense_Mutation_p.L636F|ANKMY1_ENST00000373320.4_Missense_Mutation_p.L406F	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	636							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TCATTGCTGAGCTTCAGACTT	0.667																																																	0													62.0	63.0	63.0					2																	241451391		2203	4300	6503	SO:0001583	missense	0			AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.1906C>T	2.37:g.241451391G>A	ENSP00000272972:p.Leu636Phe		B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND	p.L636F	ENST00000272972.3	37	c.1906	CCDS2536.1	2	.	.	.	.	.	.	.	.	.	.	G	12.36	1.915679	0.33815	.	.	ENSG00000144504	ENST00000373318;ENST00000406958;ENST00000272972;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804	T;T;T;T;T;T;T	0.60299	2.68;3.27;0.23;0.23;4.04;2.16;0.2	3.43	3.43	0.39272	Ankyrin repeat-containing domain (3);	0.371837	0.21368	U	0.075690	T	0.63546	0.2520	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999	D;D;D;D;D	0.91635	0.99;0.976;0.999;0.973;0.99	T	0.59904	-0.7366	10	0.33141	T	0.24	-10.9267	11.0678	0.47985	0.0:0.0:1.0:0.0	.	636;406;495;397;636	Q4ZFV3;Q9P2S6-4;Q6GPI0;B5MBY4;Q9P2S6	.;.;.;.;ANKY1_HUMAN	F	495;397;636;636;406;574;725	ENSP00000362415:L495F;ENSP00000384555:L397F;ENSP00000272972:L636F;ENSP00000375847:L636F;ENSP00000362417:L406F;ENSP00000383968:L574F;ENSP00000385887:L725F	ENSP00000272972:L636F	L	-	1	0	ANKMY1	241100064	1.000000	0.71417	0.999000	0.59377	0.092000	0.18411	3.342000	0.52159	1.858000	0.53909	0.460000	0.39030	CTC	ANKMY1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000144504		0.667	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKMY1	HGNC	protein_coding	OTTHUMT00000257187.2	-	0.00	35	0	G	NM_017844		241451391	-1	tier1	-	no_errors	ENST00000272972	ensembl	human	known	74_37	missense	24.19	47	15	SNP	1.000	A
ANKS1A	23294	genome.wustl.edu	37	6	35048806	35048806	+	Silent	SNP	G	G	T	rs371574315		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr6:35048806G>T	ENST00000360359.3	+	17	2718	c.2580G>T	c.(2578-2580)ctG>ctT	p.L860L	ANKS1A_ENST00000470698.1_3'UTR|ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	860					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CATCCCCACTGAGTCAGAATG	0.597																																																	0													142.0	120.0	128.0					6																	35048806		2203	4300	6503	SO:0001819	synonymous_variant	0			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.2580G>T	6.37:g.35048806G>T			A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt	p.L860	ENST00000360359.3	37	c.2580	CCDS4798.1	6																																																																																			ANKS1A	-	NULL	ENSG00000064999		0.597	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS1A	HGNC	protein_coding	OTTHUMT00000040262.1	-	0.00	45	0	G	XM_166478		35048806	+1	tier1	-	no_errors	ENST00000360359	ensembl	human	known	74_37	silent	8.51	43	4	SNP	1.000	T
AP1M1	8907	genome.wustl.edu	37	19	16317176	16317176	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:16317176C>T	ENST00000291439.3	+	3	673	c.224C>T	c.(223-225)gCg>gTg	p.A75V	AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000429941.2_Missense_Mutation_p.A75V|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000444449.2_Missense_Mutation_p.A75V	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	75					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						AAGAAGAACGCGTGCGTGTCG	0.587																																																	0													261.0	232.0	242.0					19																	16317176		2203	4300	6503	SO:0001583	missense	0				CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.224C>T	19.37:g.16317176C>T	ENSP00000291439:p.Ala75Val		Q4TTY5	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.A75V	ENST00000291439.3	37	c.224	CCDS12342.1	19	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666489	0.29604	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000429941	T;T;T	0.61627	0.72;0.7;0.09	4.1	4.1	0.47936	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.40909	0.1136	N	0.20401	0.57	0.80722	D	1	B;B;B	0.29085	0.006;0.232;0.145	B;B;B	0.28385	0.006;0.089;0.089	T	0.25641	-1.0126	10	0.15499	T	0.54	-36.5236	14.9163	0.70801	0.0:1.0:0.0:0.0	.	75;75;75	E7ENJ6;Q4TTY5;Q9BXS5	.;.;AP1M1_HUMAN	V	75	ENSP00000388996:A75V;ENSP00000291439:A75V;ENSP00000411498:A75V	ENSP00000291439:A75V	A	+	2	0	AP1M1	16178176	1.000000	0.71417	0.023000	0.16930	0.002000	0.02628	5.529000	0.67135	1.852000	0.53769	0.655000	0.94253	GCG	AP1M1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu	ENSG00000072958		0.587	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1M1	HGNC	protein_coding	OTTHUMT00000460492.1	-	0.00	27	0	C	NM_032493		16317176	+1	tier1	-	no_errors	ENST00000444449	ensembl	human	known	74_37	missense	37.14	22	13	SNP	0.996	T
APEX2	27301	genome.wustl.edu	37	X	55033867	55033867	+	Silent	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chrX:55033867G>A	ENST00000374987.3	+	6	1622	c.1556G>A	c.(1555-1557)tGa>tAa	p.*519*	ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	0					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						AGGCCCAGCTGAACCAATGGA	0.637								Other BER factors																																									0													11.0	8.0	9.0					X																	55033867		2186	4229	6415	SO:0001819	synonymous_variant	0			AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.1556G>A	X.37:g.55033867G>A			Q9Y5X7	Silent	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Znf_GRF,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1	p.*519	ENST00000374987.3	37	c.1556	CCDS14365.1	X																																																																																			APEX2	-	NULL	ENSG00000169188		0.637	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEX2	HGNC	protein_coding	OTTHUMT00000056845.1	-	0.00	61	0	G			55033867	+1	tier1	-	no_errors	ENST00000374987	ensembl	human	known	74_37	silent	56.41	17	22	SNP	0.301	A
APOBR	55911	genome.wustl.edu	37	16	28507445	28507445	+	Missense_Mutation	SNP	G	G	C			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr16:28507445G>C	ENST00000431282.1	+	3	1066	c.1056G>C	c.(1054-1056)gaG>gaC	p.E352D	APOBR_ENST00000328423.5_Missense_Mutation_p.E352D|APOBR_ENST00000564831.1_Missense_Mutation_p.E361D|CLN3_ENST00000569430.1_5'Flank|CLN3_ENST00000567160.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	352	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CAGGAGGGGAGGAGGCCGGGA	0.682																																																	0													12.0	15.0	14.0					16																	28507445		1938	4080	6018	SO:0001583	missense	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1056G>C	16.37:g.28507445G>C	ENSP00000416094:p.Glu352Asp		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	NULL	p.E361D	ENST00000431282.1	37	c.1083		16	.	.	.	.	.	.	.	.	.	.	G	7.381	0.628786	0.14257	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.59502	0.26;0.26	3.42	-2.0	0.07433	.	.	.	.	.	T	0.37183	0.0994	.	.	.	0.09310	N	0.999998	B	0.06786	0.001	B	0.10450	0.005	T	0.18147	-1.0346	8	0.33940	T	0.23	.	4.5869	0.12287	0.5053:0.1711:0.3237:0.0	.	352	Q9NS13	.	D	352	ENSP00000327669:E352D;ENSP00000416094:E352D	ENSP00000327669:E352D	E	+	3	2	APOBR	28414946	0.040000	0.19996	0.000000	0.03702	0.006000	0.05464	0.236000	0.17967	-0.482000	0.06782	-1.291000	0.01355	GAG	APOBR	-	NULL	ENSG00000184730		0.682	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding			0.00	18	0	G	NM_182804		28507445	+1			no_errors	ENST00000564831	ensembl	human	known	74_37	missense	12.82	34	5	SNP	0.310	C
ARHGEF10	9639	genome.wustl.edu	37	8	1893811	1893811	+	Silent	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr8:1893811C>T	ENST00000398564.1	+	27	3462	c.3462C>T	c.(3460-3462)aaC>aaT	p.N1154N	ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000349830.3_Silent_p.N1129N|ARHGEF10_ENST00000262112.6_Silent_p.N1125N|ARHGEF10_ENST00000520359.1_Silent_p.N1091N|ARHGEF10_ENST00000518288.1_Silent_p.N1153N			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1154					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CTGTTCACAACATGCTGCCAG	0.627																																																	0													104.0	88.0	94.0					8																	1893811		2203	4300	6503	SO:0001819	synonymous_variant	0			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.3462C>T	8.37:g.1893811C>T			O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.N1154	ENST00000398564.1	37	c.3462		8																																																																																			ARHGEF10	-	superfamily_WD40_repeat_dom	ENSG00000104728		0.627	ARHGEF10-203	KNOWN	basic	protein_coding	ARHGEF10	HGNC	protein_coding			0.00	23	0	C			1893811	+1			no_errors	ENST00000398564	ensembl	human	known	74_37	silent	29.41	12	5	SNP	0.984	T
ARSD	414	genome.wustl.edu	37	X	2822945	2822945	+	3'UTR	DEL	T	T	-	rs369879013|rs60974016|rs368046426		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chrX:2822945delT	ENST00000381154.1	-	0	4224				ARSD-AS1_ENST00000414053.1_RNA	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D						cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TAGATGTTTCttttttttttt	0.428													|||unknown(HR)	1091	0.289007	0.2859	0.1196	3775	,	,		14443	0.3413		0.0934	False		,,,				2504	0.1963																0																																										SO:0001624	3_prime_UTR_variant	0			X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.*2367A>-	X.37:g.2822945delT			Q9UHJ8	RNA	DEL	-	NULL	ENST00000381154.1	37	NULL	CCDS35196.1	X																																																																																			ARSD-AS1	-	-	ENSG00000229851		0.428	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSD-AS1	HGNC	protein_coding	OTTHUMT00000055636.1		0.00	23	0	T			2822945	+1	tier1		no_errors	ENST00000414053	ensembl	human	known	74_37	rna	18.52	22	5	DEL	0.012	-
ASH1L	55870	genome.wustl.edu	37	1	155308074	155308074	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:155308074G>A	ENST00000368346.3	-	27	9263	c.8624C>T	c.(8623-8625)gCc>gTc	p.A2875V	ASH1L_ENST00000392403.3_Missense_Mutation_p.A2870V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2875					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)			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)			TATCTCATTGGCTGCTTGCTC	0.522																																																	0													146.0	136.0	140.0					1																	155308074		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.8624C>T	1.37:g.155308074G>A	ENSP00000357330:p.Ala2875Val		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.A2875V	ENST00000368346.3	37	c.8624		1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435961	0.43224	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.88741	-2.42;-2.42	5.65	5.65	0.86999	.	0.232446	0.43416	D	0.000566	T	0.70631	0.3246	N	0.08118	0	0.80722	D	1	B;B	0.22414	0.041;0.069	B;B	0.29942	0.051;0.109	T	0.67488	-0.5658	10	0.33141	T	0.24	.	13.0792	0.59102	0.0:0.2034:0.7966:0.0	.	2875;2870	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	V	2875;2870	ENSP00000357330:A2875V;ENSP00000376204:A2870V	ENSP00000357330:A2875V	A	-	2	0	ASH1L	153574698	0.888000	0.30383	1.000000	0.80357	0.464000	0.32679	3.290000	0.51755	2.941000	0.99782	0.655000	0.94253	GCC	ASH1L	-	NULL	ENSG00000116539		0.522	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	-	0.00	34	0	G	NM_018489		155308074	-1	tier1	-	no_errors	ENST00000368346	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A
ASL	435	genome.wustl.edu	37	7	65552723	65552723	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:65552723C>A	ENST00000304874.9	+	10	765	c.663C>A	c.(661-663)aaC>aaA	p.N221K	ASL_ENST00000380839.4_Missense_Mutation_p.N195K|ASL_ENST00000395331.3_Missense_Mutation_p.N221K|AC068533.7_ENST00000450043.1_5'Flank|ASL_ENST00000395332.3_Missense_Mutation_p.N221K	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	221					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CAGAACTCAACTTTGGGGCCA	0.622																																																	0													80.0	69.0	73.0					7																	65552723		2203	4300	6503	SO:0001583	missense	0				CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.663C>A	7.37:g.65552723C>A	ENSP00000307188:p.Asn221Lys		E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Argininosuccinate_lyase	p.N221K	ENST00000304874.9	37	c.663	CCDS5531.1	7	.	.	.	.	.	.	.	.	.	.	c	12.14	1.848659	0.32699	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000362000;ENST00000395331	D;D;D;D;D	0.99121	-5.45;-5.45;-5.45;-5.45;-5.45	5.71	-0.893	0.10567	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.757148	0.13147	N	0.410184	D	0.93841	0.8030	N	0.05554	-0.025	0.33307	D	0.565556	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.003;0.002;0.002	D	0.88221	0.2897	10	0.66056	D	0.02	.	1.6608	0.02792	0.2363:0.4389:0.1149:0.2099	.	195;221;221	E9PE48;E7EMI0;P04424	.;.;ARLY_HUMAN	K	221;195;221;156;221	ENSP00000307188:N221K;ENSP00000370219:N195K;ENSP00000378741:N221K;ENSP00000354710:N156K;ENSP00000378740:N221K	ENSP00000307188:N221K	N	+	3	2	ASL	65190158	0.684000	0.27642	0.946000	0.38457	0.609000	0.37215	-0.329000	0.07935	-0.199000	0.10317	0.561000	0.74099	AAC	ASL	-	pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,tigrfam_Argininosuccinate_lyase	ENSG00000126522		0.622	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASL	HGNC	protein_coding	OTTHUMT00000251695.2		0.00	38	0	C	NM_000048		65552723	+1			no_errors	ENST00000304874	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.710	A
ATXN10	25814	genome.wustl.edu	37	22	46098707	46098707	+	Missense_Mutation	SNP	A	A	T	rs577007698		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr22:46098707A>T	ENST00000252934.5	+	5	892	c.627A>T	c.(625-627)aaA>aaT	p.K209N	ATXN10_ENST00000498009.1_3'UTR|ATXN10_ENST00000381061.4_Missense_Mutation_p.K145N	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	209					cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CTTACCAAAAACATCCTGAAT	0.353																																																	0													101.0	99.0	100.0					22																	46098707		2203	4300	6503	SO:0001583	missense	0			AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"""Ataxins"""	10549	protein-coding gene	gene with protein product		611150	"""spinocerebellar ataxia 10"""	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.627A>T	22.37:g.46098707A>T	ENSP00000252934:p.Lys209Asn		A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Missense_Mutation	SNP	pfam_Ataxin-10_domain,superfamily_ARM-type_fold	p.K209N	ENST00000252934.5	37	c.627	CCDS14070.1	22	.	.	.	.	.	.	.	.	.	.	A	13.96	2.394373	0.42410	.	.	ENSG00000130638	ENST00000381061;ENST00000252934;ENST00000396011	T;T	0.51071	0.72;0.72	5.99	2.55	0.30701	Armadillo-type fold (1);	0.257134	0.44285	D	0.000467	T	0.37073	0.0990	M	0.61703	1.905	0.32476	N	0.542103	B;B	0.28128	0.032;0.201	B;B	0.24155	0.038;0.051	T	0.40683	-0.9550	10	0.33141	T	0.24	-6.4433	4.4074	0.11416	0.3111:0.1674:0.5215:0.0	.	145;209	A6NLC4;Q9UBB4	.;ATX10_HUMAN	N	145;209;209	ENSP00000370449:K145N;ENSP00000252934:K209N	ENSP00000252934:K209N	K	+	3	2	ATXN10	44477371	0.750000	0.28316	0.914000	0.36105	0.772000	0.43724	0.694000	0.25512	1.520000	0.48965	-0.242000	0.12053	AAA	ATXN10	-	superfamily_ARM-type_fold	ENSG00000130638		0.353	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN10	HGNC	protein_coding	OTTHUMT00000318142.2	-	0.00	80	0	A	NM_013236		46098707	+1	tier1	-	no_errors	ENST00000252934	ensembl	human	known	74_37	missense	28.95	54	22	SNP	0.572	T
BCAP29	55973	genome.wustl.edu	37	7	107240936	107240936	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:107240936G>T	ENST00000005259.4	+	6	914	c.575G>T	c.(574-576)aGg>aTg	p.R192M	BCAP29_ENST00000379117.2_Missense_Mutation_p.R192M|BCAP29_ENST00000465919.1_Missense_Mutation_p.R98M|BCAP29_ENST00000494086.1_3'UTR|snoU109_ENST00000459477.1_RNA|BCAP29_ENST00000445771.2_Missense_Mutation_p.R192M|BCAP29_ENST00000379119.2_Missense_Mutation_p.R192M|BCAP29_ENST00000379121.2_Missense_Mutation_p.R98M	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	192					apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						ACTGAATTAAGGAAGACTTCA	0.313																																																	0													66.0	68.0	67.0					7																	107240936		2203	4298	6501	SO:0001583	missense	0				CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.575G>T	7.37:g.107240936G>T	ENSP00000005259:p.Arg192Met		G5E9L4|O95003	Missense_Mutation	SNP	pfam_Bap31	p.R192M	ENST00000005259.4	37	c.575	CCDS34731.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.562|7.562	0.664887|0.664887	0.14710|0.14710	.|.	.|.	ENSG00000075790|ENSG00000075790	ENST00000436699|ENST00000005259;ENST00000465919;ENST00000445771;ENST00000479917;ENST00000457837;ENST00000379117;ENST00000379119;ENST00000491150;ENST00000379121	.|T	.|0.42900	.|0.96	5.46|5.46	1.66|1.66	0.24008|0.24008	.|.	.|0.273242	.|0.45867	.|D	.|0.000339	T|T	0.18841|0.18841	0.0452|0.0452	N|N	0.04959|0.04959	-0.14|-0.14	0.30275|0.30275	N|N	0.79187|0.79187	.|B;B;B	.|0.19935	.|0.04;0.006;0.015	.|B;B;B	.|0.21360	.|0.034;0.008;0.008	T|T	0.08472|0.08472	-1.0720|-1.0720	5|10	.|0.59425	.|D	.|0.04	-32.9407|-32.9407	4.9517|4.9517	0.14017|0.14017	0.7069:0.0:0.1576:0.1356|0.7069:0.0:0.1576:0.1356	.|.	.|192;192;192	.|G5E9L4;C9JTE9;Q9UHQ4	.|.;.;BAP29_HUMAN	N|M	105|192;98;192;192;192;192;192;149;98	.|ENSP00000368416:R98M	.|ENSP00000005259:R192M	K|R	+|+	3|2	2|0	BCAP29|BCAP29	107028172|107028172	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.124000|0.124000	0.20399|0.20399	2.164000|2.164000	0.42387|0.42387	0.383000|0.383000	0.24910|0.24910	-0.302000|-0.302000	0.09304|0.09304	AAG|AGG	BCAP29	-	pfam_Bap31	ENSG00000075790		0.313	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BCAP29	HGNC	protein_coding	OTTHUMT00000337011.2		0.00	27	0	G	NM_018844		107240936	+1			no_errors	ENST00000379119	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	T
BIRC8	112401	genome.wustl.edu	37	19	53793366	53793366	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:53793366C>T	ENST00000426466.1	-	1	1509	c.262G>A	c.(262-264)Gag>Aag	p.E88K		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	88					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		AGAGCTCCCTCAAGTGAACGG	0.388																																																	0													205.0	195.0	198.0					19																	53793366		2203	4300	6503	SO:0001583	missense	0			AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.262G>A	19.37:g.53793366C>T	ENSP00000412957:p.Glu88Lys		Q6IPY1|Q96RW5	Missense_Mutation	SNP	pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING	p.E88K	ENST00000426466.1	37	c.262	CCDS12863.1	19	.	.	.	.	.	.	.	.	.	.	C	0.668	-0.803100	0.02841	.	.	ENSG00000163098	ENST00000426466	T	0.37058	1.22	0.502	0.502	0.16932	.	.	.	.	.	T	0.25005	0.0607	L	0.50333	1.59	0.09310	N	0.999993	B	0.14438	0.01	B	0.08055	0.003	T	0.35325	-0.9793	8	0.06099	T	0.92	.	.	.	.	.	88	Q96P09	BIRC8_HUMAN	K	88	ENSP00000412957:E88K	ENSP00000412957:E88K	E	-	1	0	BIRC8	58485178	0.001000	0.12720	0.055000	0.19348	0.042000	0.13812	-0.657000	0.05335	0.578000	0.29487	0.420000	0.28162	GAG	BIRC8	-	NULL	ENSG00000163098		0.388	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC8	HGNC	protein_coding	OTTHUMT00000464357.1	-	0.00	55	0	C	NM_033341		53793366	-1	tier1	-	no_errors	ENST00000426466	ensembl	human	known	74_37	missense	23.08	50	15	SNP	0.531	T
BLM	641	genome.wustl.edu	37	15	91341471	91341471	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr15:91341471G>T	ENST00000355112.3	+	17	3380	c.3262G>T	c.(3262-3264)Gtt>Ttt	p.V1088F	BLM_ENST00000560509.1_Missense_Mutation_p.V1088F|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1088					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TGTAAGATTTGTTCAAGAACA	0.318			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																														yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"""L, E"""	0													114.0	113.0	113.0					15																	91341471		2198	4297	6495	SO:0001583	missense	0	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.3262G>T	15.37:g.91341471G>T	ENSP00000347232:p.Val1088Phe		Q52M96	Missense_Mutation	SNP	pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.V1088F	ENST00000355112.3	37	c.3262	CCDS10363.1	15	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276500	0.59649	.	.	ENSG00000197299	ENST00000355112;ENST00000536925;ENST00000543977	T	0.63417	-0.04	5.66	4.75	0.60458	RQC domain (2);	0.061154	0.64402	D	0.000004	T	0.81079	0.4748	M	0.89840	3.065	0.80722	D	1	D;D	0.60575	0.988;0.988	D;D	0.69479	0.952;0.964	D	0.84637	0.0693	10	0.87932	D	0	-0.0456	12.208	0.54363	0.0826:0.0:0.9174:0.0	.	1088;1088	B2RAN0;P54132	.;BLM_HUMAN	F	1088;718;275	ENSP00000347232:V1088F	ENSP00000347232:V1088F	V	+	1	0	BLM	89142475	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.435000	0.73412	1.401000	0.46761	0.585000	0.79938	GTT	BLM	-	pfam_RQC_domain,superfamily_P-loop_NTPase,smart_RQC_domain,tigrfam_DNA_helicase_ATP-dep_RecQ	ENSG00000197299		0.318	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLM	HGNC	protein_coding	OTTHUMT00000313495.1	-	0.00	36	0	G			91341471	+1	tier1	-	no_errors	ENST00000355112	ensembl	human	known	74_37	missense	21.21	52	14	SNP	1.000	T
BNIP3	664	genome.wustl.edu	37	10	133784444	133784444	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr10:133784444C>A	ENST00000368636.4	-	4	437	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	BNIP3_ENST00000540159.1_Nonsense_Mutation_p.E105*	NM_004052.2	NP_004043.2	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	105					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|brown fat cell differentiation (GO:0050873)|cell death (GO:0008219)|cellular response to cobalt ion (GO:0071279)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|intrinsic apoptotic signaling pathway in response to hypoxia (GO:1990144)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|negative regulation of membrane potential (GO:0045837)|negative regulation of mitochondrial fusion (GO:0010637)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase binding (GO:0051020)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTTTCAACTTCTTTCCTTCTT	0.448																																																	0													81.0	80.0	80.0					10																	133784444		2203	4300	6503	SO:0001587	stop_gained	0			U15174	CCDS7663.1	10q26.3	2003-11-05	2002-08-29		ENSG00000176171	ENSG00000176171			1084	protein-coding gene	gene with protein product		603293	"""BCL2/adenovirus E1B 19kD-interacting protein 3"""			7954800	Standard	NM_004052		Approved	Nip3	uc001lkv.1	Q12983	OTTHUMG00000019278	ENST00000368636.4:c.313G>T	10.37:g.133784444C>A	ENSP00000357625:p.Glu105*		O14620|Q96GP0	Nonsense_Mutation	SNP	pfam_BNIP3	p.E105*	ENST00000368636.4	37	c.313	CCDS7663.1	10	.	.	.	.	.	.	.	.	.	.	C	34	5.293882	0.95546	.	.	ENSG00000176171	ENST00000368636;ENST00000540159	.	.	.	3.96	3.96	0.45880	.	0.046527	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-12.2745	17.3272	0.87252	0.0:1.0:0.0:0.0	.	.	.	.	X	105	.	ENSP00000357625:E105X	E	-	1	0	BNIP3	133634434	1.000000	0.71417	0.560000	0.28344	0.866000	0.49608	6.576000	0.74023	2.506000	0.84524	0.655000	0.94253	GAA	BNIP3	-	pfam_BNIP3	ENSG00000176171		0.448	BNIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNIP3	HGNC	protein_coding	OTTHUMT00000051039.1	-	0.00	45	0	C			133784444	-1	tier1	-	no_errors	ENST00000368636	ensembl	human	known	74_37	nonsense	7.81	59	5	SNP	1.000	A
BPIFB2	80341	genome.wustl.edu	37	20	31600673	31600673	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr20:31600673C>T	ENST00000170150.3	+	4	463	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	90						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										TTTCGGAGTGCGCCTGCTGGC	0.542																																																	0													164.0	156.0	159.0					20																	31600673		2203	4300	6503	SO:0001583	missense	0			AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.268C>T	20.37:g.31600673C>T	ENSP00000170150:p.Arg90Cys		Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	p.R90C	ENST00000170150.3	37	c.268	CCDS13210.1	20	.	.	.	.	.	.	.	.	.	.	C	16.32	3.088930	0.55968	.	.	ENSG00000078898	ENST00000170150	T	0.04862	3.54	4.41	4.41	0.53225	.	0.503853	0.16456	N	0.213611	T	0.12008	0.0292	L	0.32530	0.975	0.09310	N	1	D	0.69078	0.997	P	0.58077	0.832	T	0.12091	-1.0561	10	0.39692	T	0.17	-5.3275	12.682	0.56926	0.0:1.0:0.0:0.0	.	90	Q8N4F0	BPIB2_HUMAN	C	90	ENSP00000170150:R90C	ENSP00000170150:R90C	R	+	1	0	BPIFB2	31064334	0.004000	0.15560	0.005000	0.12908	0.007000	0.05969	2.071000	0.41500	2.451000	0.82905	0.655000	0.94253	CGC	BPIFB2	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	ENSG00000078898		0.542	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB2	HGNC	protein_coding	OTTHUMT00000078652.2	-	0.00	72	0	C	NM_025227		31600673	+1	tier1	-	no_errors	ENST00000170150	ensembl	human	known	74_37	missense	45.95	40	34	SNP	0.007	T
BTBD11	121551	genome.wustl.edu	37	12	108011212	108011212	+	Splice_Site	SNP	A	A	G			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr12:108011212A>G	ENST00000280758.5	+	9	2758	c.2230A>G	c.(2230-2232)Agg>Ggg	p.R744G	BTBD11_ENST00000357167.4_Splice_Site_p.R281G|BTBD11_ENST00000420571.2_Intron|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Splice_Site_p.R744G	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	744						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCACGGACACAGGTAGGCTAG	0.542																																																	0													50.0	51.0	51.0					12																	108011212		2203	4300	6503	SO:0001630	splice_region_variant	0			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2231+1A>G	12.37:g.108011212A>G			A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.R744G	ENST00000280758.5	37	c.2230	CCDS31893.1	12	.	.	.	.	.	.	.	.	.	.	A	27.7	4.853394	0.91355	.	.	ENSG00000151136	ENST00000280758;ENST00000490090;ENST00000357167	T;T;T	0.52983	0.64;0.64;0.64	5.63	5.63	0.86233	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.58206	0.2106	L	0.31476	0.935	0.80722	D	1	D;D;D	0.89917	0.991;0.991;1.0	D;D;D	0.78314	0.991;0.991;0.977	T	0.62515	-0.6838	10	0.87932	D	0	.	15.8448	0.78879	1.0:0.0:0.0:0.0	.	281;744;744	E9PHS4;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	G	744;744;281	ENSP00000280758:R744G;ENSP00000447319:R744G;ENSP00000349690:R281G	ENSP00000280758:R744G	R	+	1	2	BTBD11	106535342	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.148000	0.66965	0.533000	0.62120	AGG	BTBD11	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt	ENSG00000151136		0.542	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	HGNC	protein_coding	OTTHUMT00000318003.1	-	0.00	38	0	A	NM_152322	Missense_Mutation	108011212	+1	tier1	-	no_errors	ENST00000280758	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	G
C10orf99	387695	genome.wustl.edu	37	10	85936240	85936240	+	Missense_Mutation	SNP	G	G	C			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr10:85936240G>C	ENST00000372126.3	+	2	189	c.75G>C	c.(73-75)aaG>aaC	p.K25N		NM_207373.2	NP_997256.1	Q6UWK7	CJ099_HUMAN	chromosome 10 open reading frame 99	25						extracellular region (GO:0005576)				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						CCTCAGGGAAGAGGCGTCCTG	0.562																																																	0													92.0	75.0	81.0					10																	85936240		2203	4300	6503	SO:0001583	missense	0			AY358751	CCDS7371.1	10q23.2	2014-04-16			ENSG00000188373	ENSG00000188373			31428	protein-coding gene	gene with protein product						12975309	Standard	NM_207373		Approved	UNQ1833, RLLV1833, FLJ21763	uc001kcu.3	Q6UWK7	OTTHUMG00000018635	ENST00000372126.3:c.75G>C	10.37:g.85936240G>C	ENSP00000361199:p.Lys25Asn			Missense_Mutation	SNP	NULL	p.K25N	ENST00000372126.3	37	c.75	CCDS7371.1	10	.	.	.	.	.	.	.	.	.	.	G	4.976	0.181242	0.09495	.	.	ENSG00000188373	ENST00000372126	.	.	.	3.65	-3.92	0.04155	.	.	.	.	.	T	0.21590	0.0520	.	.	.	0.09310	N	1	B	0.33238	0.403	B	0.30029	0.11	T	0.17623	-1.0363	7	0.59425	D	0.04	.	5.8627	0.18757	0.3106:0.1765:0.5129:0.0	.	25	Q6UWK7	CJ099_HUMAN	N	25	.	ENSP00000361199:K25N	K	+	3	2	C10orf99	85926220	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.034000	0.12225	-0.747000	0.04759	-0.390000	0.06520	AAG	C10orf99	-	NULL	ENSG00000188373		0.562	C10orf99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf99	HGNC	protein_coding	OTTHUMT00000049114.1	-	0.00	39	0	G	NM_207373		85936240	+1	tier1	-	no_errors	ENST00000372126	ensembl	human	known	74_37	missense	20.83	19	5	SNP	0.000	C
C11orf80	79703	genome.wustl.edu	37	11	66512287	66512287	+	Missense_Mutation	SNP	A	A	G			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:66512287A>G	ENST00000360962.4	+	1	81	c.74A>G	c.(73-75)gAg>gGg	p.E25G	C11orf80_ENST00000527634.1_5'UTR|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000346672.4_5'UTR|C11orf80_ENST00000532565.2_5'Flank|C11orf80_ENST00000540737.1_5'UTR	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	25										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						CGGGCTGAGGAGGGggcggcg	0.791																																																	0													1.0	1.0	1.0					11																	66512287		258	821	1079	SO:0001583	missense	0					11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	ENST00000360962.4:c.74A>G	11.37:g.66512287A>G	ENSP00000354227:p.Glu25Gly		Q9H677	Missense_Mutation	SNP	NULL	p.E25G	ENST00000360962.4	37	c.74	CCDS53664.1	11	.	.	.	.	.	.	.	.	.	.	A	16.67	3.186595	0.57909	.	.	ENSG00000173715	ENST00000360962	T	0.34859	1.34	2.37	-2.8	0.05823	.	.	.	.	.	T	0.26195	0.0639	.	.	.	0.24707	N	0.99323	.	.	.	.	.	.	T	0.32134	-0.9918	6	0.46703	T	0.11	.	3.4329	0.07434	0.328:0.4124:0.0:0.2596	.	.	.	.	G	25	ENSP00000354227:E25G	ENSP00000354227:E25G	E	+	2	0	C11orf80	66268863	0.366000	0.25014	0.017000	0.16124	0.392000	0.30506	0.135000	0.15952	-0.581000	0.05937	0.379000	0.24179	GAG	C11orf80	-	NULL	ENSG00000173715		0.791	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C11orf80	HGNC	protein_coding			0.00	11	0	A	NM_024650		66512287	+1			no_errors	ENST00000360962	ensembl	human	known	74_37	missense	7.89	68	6	SNP	0.021	G
C16orf96	342346	genome.wustl.edu	37	16	4621606	4621606	+	Silent	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr16:4621606C>A	ENST00000444310.4	+	2	465	c.465C>A	c.(463-465)ctC>ctA	p.L155L		NM_001145011.1	NP_001138483.1			chromosome 16 open reading frame 96											NS(1)|breast(1)|endometrium(6)|kidney(1)|skin(3)	12						TTCATGCACTCCAGGTCACCA	0.537																																																	0													101.0	85.0	90.0					16																	4621606		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS53986.1	16p13.3	2012-10-10			ENSG00000205832	ENSG00000205832			40031	protein-coding gene	gene with protein product							Standard	NM_001145011		Approved		uc010uxn.2	A6NNT2	OTTHUMG00000176519	ENST00000444310.4:c.465C>A	16.37:g.4621606C>A				Silent	SNP	NULL	p.L155	ENST00000444310.4	37	c.465	CCDS53986.1	16																																																																																			C16orf96	-	NULL	ENSG00000205832		0.537	C16orf96-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C16orf96	HGNC	protein_coding	OTTHUMT00000432384.1	-	0.00	52	0	C	NM_001145011		4621606	+1	tier1	-	no_errors	ENST00000444310	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.151	A
C17orf47	284083	genome.wustl.edu	37	17	56620587	56620587	+	Missense_Mutation	SNP	C	C	T	rs373119715		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr17:56620587C>T	ENST00000321691.3	-	1	1142	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	SEPT4_ENST00000412945.3_5'Flank|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	321										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGGTCCTCACGTTGGACTCC	0.537																																																	0								C	MET/VAL	0,4406		0,0,2203	94.0	84.0	87.0		961	-10.6	0.0	17		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	C17orf47	NM_001038704.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	321/571	56620587	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.961G>A	17.37:g.56620587C>T	ENSP00000354874:p.Val321Met		Q8N821	Missense_Mutation	SNP	NULL	p.V321M	ENST00000321691.3	37	c.961	CCDS32691.1	17	.	.	.	.	.	.	.	.	.	.	C	8.096	0.775509	0.16051	0.0	1.16E-4	ENSG00000181013	ENST00000321691	T	0.32515	1.45	5.32	-10.6	0.00265	.	2.074920	0.01824	N	0.034257	T	0.12178	0.0296	N	0.11560	0.145	0.09310	N	1	B	0.28584	0.216	B	0.15870	0.014	T	0.10800	-1.0614	10	0.39692	T	0.17	3.971	5.7628	0.18209	0.0804:0.137:0.2389:0.5437	.	321	Q8NEP4	CQ047_HUMAN	M	321	ENSP00000354874:V321M	ENSP00000354874:V321M	V	-	1	0	C17orf47	53975586	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-4.400000	0.00240	-3.230000	0.00209	-0.521000	0.04368	GTG	C17orf47	-	NULL	ENSG00000181013		0.537	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf47	HGNC	protein_coding	OTTHUMT00000445443.1	-	0.00	31	0	C	NM_001038704		56620587	-1	tier1	-	no_errors	ENST00000321691	ensembl	human	known	74_37	missense	41.94	18	13	SNP	0.000	T
C19orf38	255809	genome.wustl.edu	37	19	10970624	10970624	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:10970624C>A	ENST00000397820.4	+	5	602	c.495C>A	c.(493-495)ttC>ttA	p.F165L	C19orf38_ENST00000592854.1_Missense_Mutation_p.F165L	NM_001136482.1	NP_001129954.1	A8MVS5	HIDE1_HUMAN	chromosome 19 open reading frame 38	165						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)	2						AGATTAACTTCGACAGCACAG	0.517																																																	0													93.0	79.0	83.0					19																	10970624		692	1591	2283	SO:0001583	missense	0				CCDS45970.1	19p13.2	2011-08-02	2008-04-14		ENSG00000214212	ENSG00000214212			34073	protein-coding gene	gene with protein product	"""Highly expressed in immature dendritic cell transcript 1"""						Standard	NM_001136482		Approved	HIDE1	uc010dxm.1	A8MVS5		ENST00000397820.4:c.495C>A	19.37:g.10970624C>A	ENSP00000380920:p.Phe165Leu		B2RXI3	Missense_Mutation	SNP	NULL	p.F165L	ENST00000397820.4	37	c.495	CCDS45970.1	19	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989354	0.53934	.	.	ENSG00000214212	ENST00000397820	.	.	.	5.58	3.33	0.38152	.	0.458295	0.16018	U	0.233448	T	0.30696	0.0773	M	0.62723	1.935	0.27699	N	0.945865	P	0.42556	0.783	B	0.37144	0.242	T	0.34054	-0.9844	9	0.62326	D	0.03	-23.0558	5.3607	0.16085	0.0:0.7223:0.0:0.2777	.	165	A8MVS5	HIDE1_HUMAN	L	165	.	ENSP00000380920:F165L	F	+	3	2	C19orf38	10831624	0.266000	0.24112	0.615000	0.29064	0.287000	0.27160	0.536000	0.23129	1.370000	0.46153	0.561000	0.74099	TTC	C19orf38	-	NULL	ENSG00000214212		0.517	C19orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf38	HGNC	protein_coding	OTTHUMT00000452622.1		0.00	25	0	C	NM_001136482		10970624	+1			no_errors	ENST00000397820	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.659	A
C1RL	51279	genome.wustl.edu	37	12	7254578	7254578	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr12:7254578G>A	ENST00000266542.4	-	3	498	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	C1RL_ENST00000545337.1_Missense_Mutation_p.R136W|C1RL_ENST00000544702.1_Missense_Mutation_p.R136W|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	136	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAGGTCAGCCGCAAACTCCTC	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.001																0													113.0	105.0	108.0					12																	7254578		2203	4300	6503	SO:0001583	missense	0			AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.406C>T	12.37:g.7254578G>A	ENSP00000266542:p.Arg136Trp		Q53GX9	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R136W	ENST00000266542.4	37	c.406	CCDS8573.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.86|15.86	2.958485|2.958485	0.53400|0.53400	.|.	.|.	ENSG00000139178|ENSG00000139178	ENST00000534950|ENST00000266542;ENST00000396661;ENST00000544702;ENST00000543933;ENST00000545337	.|T;T;T;T	.|0.28895	.|1.59;1.59;1.59;1.59	3.76|3.76	2.83|2.83	0.33086|0.33086	.|CUB (5);	.|0.572616	.|0.14831	.|N	.|0.295867	T|T	0.41282|0.41282	0.1152|0.1152	L|L	0.36672|0.36672	1.1|1.1	0.30578|0.30578	N|N	0.762843|0.762843	.|D;D;B	.|0.89917	.|1.0;1.0;0.085	.|D;D;B	.|0.74674	.|0.984;0.932;0.042	T|T	0.34950|0.34950	-0.9808|-0.9808	5|10	.|0.72032	.|D	.|0.01	.|.	8.4735|8.4735	0.32999|0.32999	0.0:0.0:0.7683:0.2317|0.0:0.0:0.7683:0.2317	.|.	.|136;136;136	.|F5GWF3;F5H7C8;Q9NZP8	.|.;.;C1RL_HUMAN	V|W	35|136	.|ENSP00000266542:R136W;ENSP00000441885:R136W;ENSP00000437398:R136W;ENSP00000442611:R136W	.|ENSP00000266542:R136W	A|R	-|-	2|1	0|2	C1RL|C1RL	7145854|7145854	0.008000|0.008000	0.16893|0.16893	0.643000|0.643000	0.29450|0.29450	0.916000|0.916000	0.54674|0.54674	0.914000|0.914000	0.28624|0.28624	1.112000|1.112000	0.41740|0.41740	0.462000|0.462000	0.41574|0.41574	GCG|CGG	C1RL	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000139178		0.607	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1RL	HGNC	protein_coding	OTTHUMT00000398367.1	-	0.00	39	0	G	NM_016546		7254578	-1	tier1	-	no_errors	ENST00000266542	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.685	A
C1orf159	54991	genome.wustl.edu	37	1	1018026	1018026	+	3'UTR	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:1018026G>T	ENST00000379339.1	-	0	1600				C1orf159_ENST00000421241.2_3'UTR|C1orf159_ENST00000482816.1_5'Flank|C1orf159_ENST00000294576.5_3'UTR|C1orf159_ENST00000448924.1_3'UTR|C1orf159_ENST00000379320.1_3'UTR			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159							integral component of membrane (GO:0016021)						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GCCTCGATCTGAAGCTCTGAG	0.667																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591			26062	protein-coding gene	gene with protein product						12975309	Standard	NM_017891		Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.*247C>A	1.37:g.1018026G>T			B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	RNA	SNP	-	NULL	ENST00000379339.1	37	NULL		1																																																																																			C1orf159	-	-	ENSG00000131591		0.667	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	C1orf159	HGNC	protein_coding	OTTHUMT00000001851.2	-	0.00	40	0	G	NM_017891		1018026	-1	tier1	-	no_errors	ENST00000464905	ensembl	human	known	74_37	rna	7.55	49	4	SNP	0.000	T
ERICH3	127254	genome.wustl.edu	37	1	75065555	75065555	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:75065555C>T	ENST00000326665.5	-	11	1768	c.1550G>A	c.(1549-1551)gGa>gAa	p.G517E	C1orf173_ENST00000420661.2_Missense_Mutation_p.G320E|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		517	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATCAGCCTGTCCTTCTTCATT	0.348																																																	0													208.0	214.0	212.0					1																	75065555		2203	4300	6503	SO:0001583	missense	0																														ENST00000326665.5:c.1550G>A	1.37:g.75065555C>T	ENSP00000322609:p.Gly517Glu		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.G517E	ENST00000326665.5	37	c.1550	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	C	8.344	0.829425	0.16749	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.18174	2.69;2.23	6.05	4.14	0.48551	.	.	.	.	.	T	0.13072	0.0317	L	0.52573	1.65	0.26889	N	0.967364	B;D	0.76494	0.412;0.999	B;D	0.71414	0.232;0.973	T	0.02901	-1.1096	9	0.06494	T	0.89	-7.4945	10.1694	0.42900	0.1376:0.7909:0.0:0.0716	.	320;517	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	E	517;320	ENSP00000322609:G517E;ENSP00000398581:G320E	ENSP00000322609:G517E	G	-	2	0	C1orf173	74838143	1.000000	0.71417	0.742000	0.31022	0.013000	0.08279	2.799000	0.47892	0.841000	0.35020	0.650000	0.86243	GGA	C1orf173	-	NULL	ENSG00000178965		0.348	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	-	0.00	38	0	C			75065555	-1	tier1	-	no_errors	ENST00000326665	ensembl	human	known	74_37	missense	27.47	66	25	SNP	1.000	T
UMODL1	89766	genome.wustl.edu	37	21	43528481	43528481	+	Intron	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr21:43528481C>T	ENST00000408910.2	+	10	1519				UMODL1_ENST00000408989.2_Intron|C21orf128_ENST00000329015.2_Silent_p.G4G|UMODL1_ENST00000400427.1_Intron|UMODL1_ENST00000400424.2_Intron	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1						adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGCAAGGCAGCCCCCAGGCCA	0.607																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)												0													50.0	51.0	51.0					21																	43528481		1566	3582	5148	SO:0001627	intron_variant	0				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1520-1191C>T	21.37:g.43528481C>T			C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	NULL	p.G4	ENST00000408910.2	37	c.12	CCDS42936.1	21																																																																																			C21orf128	-	NULL	ENSG00000184385		0.607	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C21orf128	HGNC	protein_coding	OTTHUMT00000195292.2	-	0.00	45	0	C			43528481	-1	tier1	-	no_errors	ENST00000329015	ensembl	human	putative	74_37	silent	14.29	24	4	SNP	0.000	T
C5orf42	65250	genome.wustl.edu	37	5	37183047	37183047	+	Silent	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr5:37183047G>A	ENST00000508244.1	-	25	5329	c.5236C>T	c.(5236-5238)Ctg>Ttg	p.L1746L	C5orf42_ENST00000425232.2_Silent_p.L1746L|C5orf42_ENST00000274258.7_Silent_p.L627L			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1746						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CATTCCAGCAGTCTTCCTATA	0.378																																																	0													110.0	105.0	107.0					5																	37183047		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5236C>T	5.37:g.37183047G>A			A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	superfamily_Quino_amine_DH_bsu	p.L1746	ENST00000508244.1	37	c.5236	CCDS34146.2	5																																																																																			C5orf42	-	NULL	ENSG00000197603		0.378	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	-	0.00	46	0	G	NM_023073		37183047	-1	tier1	-	no_errors	ENST00000425232	ensembl	human	known	74_37	silent	59.52	17	25	SNP	0.654	A
CACNA1A	773	genome.wustl.edu	37	19	13616860	13616860	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:13616860G>T	ENST00000360228.5	-	1	178	c.179C>A	c.(178-180)gCa>gAa	p.A60E	CACNA1A_ENST00000573710.2_Missense_Mutation_p.A60E	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	60					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GTTGTAGAGTGCCATGGTCCG	0.627																																																	0													96.0	105.0	102.0					19																	13616860		2099	4220	6319	SO:0001583	missense	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.179C>A	19.37:g.13616860G>T	ENSP00000353362:p.Ala60Glu		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.A60E	ENST00000360228.5	37	c.179	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372091	0.61624	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.96619	-4.07	3.04	3.04	0.35103	.	0.000000	0.53938	U	0.000042	D	0.97253	0.9102	M	0.65498	2.005	0.52501	D	0.999958	P;D	0.63880	0.808;0.993	B;D	0.70227	0.291;0.968	D	0.97527	1.0077	10	0.87932	D	0	.	12.941	0.58345	0.0:0.0:1.0:0.0	.	60;60	O00555;Q9NS88	CAC1A_HUMAN;.	E	60	ENSP00000353362:A60E	ENSP00000317661:A60E	A	-	2	0	CACNA1A	13477860	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.247000	0.95444	1.530000	0.49136	0.508000	0.49915	GCA	CACNA1A	-	NULL	ENSG00000141837		0.627	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2		0.00	33	0	G	NM_000068		13616860	-1			no_errors	ENST00000360228	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T
CACNA1C	775	genome.wustl.edu	37	12	2695017	2695017	+	Missense_Mutation	SNP	T	T	C			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr12:2695017T>C	ENST00000347598.4	+	18	2477	c.2477T>C	c.(2476-2478)cTc>cCc	p.L826P	CACNA1C_ENST00000399595.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000399641.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000344100.3_Missense_Mutation_p.L826P|CACNA1C_ENST00000399601.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000327702.7_Missense_Mutation_p.L826P|CACNA1C_ENST00000399634.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000399603.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000399629.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000480911.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000335762.5_Missense_Mutation_p.L851P|CACNA1C_ENST00000399597.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000399637.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000399638.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000399617.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000399655.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000402845.3_Missense_Mutation_p.L826P|CACNA1C_ENST00000399621.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000399591.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000399606.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000399644.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000399649.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000406454.3_Missense_Mutation_p.L826P	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	826					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGGATGACCTCCAGCCCAAT	0.507																																																	0													85.0	86.0	86.0					12																	2695017		1875	4113	5988	SO:0001583	missense	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2477T>C	12.37:g.2695017T>C	ENSP00000266376:p.Leu826Pro		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.L826P	ENST00000347598.4	37	c.2477	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	T	14.53	2.562522	0.45694	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96459	-3.96;-3.96;-3.97;-3.96;-3.96;-3.96;-3.98;-3.88;-3.92;-3.97;-3.9;-3.89;-3.97;-4.02;-3.88;-3.81;-4.02;-3.98;-3.96;-3.99;-3.9;-3.99;-4.02	5.68	5.68	0.88126	.	1.543580	0.03116	N	0.163117	D	0.97077	0.9045	L	0.50333	1.59	0.54753	D	0.999985	D;P;B;P;P;P;P;P;B;B;P;P;B;P;P;P;P;P;P;B;P;P;P;P;B;P	0.53885	0.963;0.824;0.41;0.956;0.928;0.852;0.786;0.759;0.0;0.244;0.852;0.786;0.001;0.889;0.828;0.646;0.955;0.496;0.852;0.0;0.786;0.852;0.928;0.786;0.284;0.786	P;P;B;P;P;P;B;P;B;B;P;B;B;P;B;B;P;B;P;B;B;P;P;B;B;B	0.56278	0.736;0.522;0.195;0.564;0.795;0.628;0.44;0.628;0.003;0.212;0.628;0.44;0.003;0.596;0.34;0.424;0.542;0.284;0.528;0.003;0.342;0.528;0.718;0.44;0.122;0.342	D	0.89322	0.3641	10	0.56958	D	0.05	.	10.67	0.45753	0.1432:0.0:0.0:0.8568	.	826;823;826;826;826;826;826;826;826;826;826;826;797;826;826;826;826;826;826;826;826;826;826;826;826;826	Q13936-14;Q13936-35;Q13936;E9PDI6;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	P	851;826;826;826;826;826;826;826;826;826;826;826;826;826;826;826;826;826;826;826;826;826;826;667	ENSP00000336982:L851P;ENSP00000382563:L826P;ENSP00000437936:L826P;ENSP00000382552:L826P;ENSP00000382547:L826P;ENSP00000382506:L826P;ENSP00000382530:L826P;ENSP00000382546:L826P;ENSP00000382500:L826P;ENSP00000382549:L826P;ENSP00000266376:L826P;ENSP00000382515:L826P;ENSP00000382510:L826P;ENSP00000341092:L826P;ENSP00000382537:L826P;ENSP00000329877:L826P;ENSP00000382557:L826P;ENSP00000385724:L826P;ENSP00000382512:L826P;ENSP00000382542:L826P;ENSP00000382526:L826P;ENSP00000385896:L826P;ENSP00000382504:L826P	ENSP00000323129:L667P	L	+	2	0	CACNA1C	2565278	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.834000	0.27518	2.168000	0.68352	0.533000	0.62120	CTC	CACNA1C	-	prints_VDCC_L_a1csu	ENSG00000151067		0.507	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1		0.00	62	0	T	NM_000719		2695017	+1			no_errors	ENST00000399634	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	C
CALCRL	10203	genome.wustl.edu	37	2	188245496	188245496	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:188245496G>T	ENST00000409998.1	-	7	984	c.203C>A	c.(202-204)aCc>aAc	p.T68N	CALCRL_ENST00000410068.1_Missense_Mutation_p.T68N|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.T68N			Q16602	CALRL_HUMAN	calcitonin receptor-like	68					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TCCATCCCAGGTTCTGTTGCA	0.413																																																	0													59.0	55.0	56.0					2																	188245496		2203	4300	6503	SO:0001583	missense	0			U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.203C>A	2.37:g.188245496G>T	ENSP00000386972:p.Thr68Asn		A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt	p.T68N	ENST00000409998.1	37	c.203	CCDS2293.1	2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217220	0.79352	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068;ENST00000447403	T;T;T;T	0.64991	-0.13;-0.13;-0.13;0.41	5.42	5.42	0.78866	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.64402	D	0.000008	T	0.72455	0.3462	M	0.62209	1.925	0.80722	D	1	P	0.44690	0.841	P	0.53861	0.736	T	0.71922	-0.4446	10	0.49607	T	0.09	.	16.7568	0.85502	0.0:0.0:1.0:0.0	.	68	Q16602	CALRL_HUMAN	N	68	ENSP00000376177:T68N;ENSP00000386972:T68N;ENSP00000387190:T68N;ENSP00000415626:T68N	ENSP00000376177:T68N	T	-	2	0	CALCRL	187953741	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.965000	0.70387	2.820000	0.97059	0.650000	0.86243	ACC	CALCRL	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom	ENSG00000064989		0.413	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CALCRL	HGNC	protein_coding	OTTHUMT00000334648.1		0.00	28	0	G	NM_005795		188245496	-1			no_errors	ENST00000392370	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	T
CAMK2A	815	genome.wustl.edu	37	5	149618297	149618297	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr5:149618297G>T	ENST00000348628.6	-	14	1664	c.999C>A	c.(997-999)agC>agA	p.S333R	CAMK2A_ENST00000398376.3_Missense_Mutation_p.S344R|CAMK2A_ENST00000351010.6_5'UTR	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	333					calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGTGTTGGTGCTCTCTGAGG	0.597																																																	0													82.0	87.0	85.0					5																	149618297		2042	4188	6230	SO:0001583	missense	0			AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.999C>A	5.37:g.149618297G>T	ENSP00000261793:p.Ser333Arg		Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S344R	ENST00000348628.6	37	c.1032	CCDS43386.1	5	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952819	0.53293	.	.	ENSG00000070808	ENST00000348628;ENST00000398376	T;T	0.69040	-0.37;-0.36	5.43	3.31	0.37934	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77068	0.4076	M	0.74647	2.275	0.58432	D	0.999994	P;D;P;D	0.67145	0.798;0.996;0.696;0.996	P;D;B;D	0.65233	0.578;0.933;0.374;0.933	T	0.78481	-0.2187	10	0.72032	D	0.01	.	9.3317	0.38025	0.2859:0.0:0.7141:0.0	.	344;333;344;333	Q9UQM7-2;Q9UQM7;A8K161;Q7LDD5	.;KCC2A_HUMAN;.;.	R	333;344	ENSP00000261793:S333R;ENSP00000381412:S344R	ENSP00000261793:S333R	S	-	3	2	CAMK2A	149598490	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.454000	0.35178	1.245000	0.43885	0.561000	0.74099	AGC	CAMK2A	-	superfamily_Kinase-like_dom	ENSG00000070808		0.597	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2A	HGNC	protein_coding	OTTHUMT00000258869.2		0.00	36	0	G	NM_015981		149618297	-1			no_errors	ENST00000398376	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	T
CATSPER2P1	440278	genome.wustl.edu	37	15	44028270	44028270	+	RNA	SNP	C	C	G	rs191643915	byFrequency	TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr15:44028270C>G	ENST00000381680.2	-	0	1514				RNU6-354P_ENST00000383862.1_RNA	NR_002318.2				cation channel, sperm associated 2 pseudogene 1																		ccaccgcacccggccAATTTG	0.527																																																	0																																												0			BC066967		15q15.3	2010-07-12			ENSG00000205771	ENSG00000205771			31054	pseudogene	pseudogene							Standard	NR_002318		Approved		uc001zss.3		OTTHUMG00000059938		15.37:g.44028270C>G				RNA	SNP	-	NULL	ENST00000381680.2	37	NULL		15																																																																																			CATSPER2P1	-	-	ENSG00000205771		0.527	CATSPER2P1-002	KNOWN	basic	processed_transcript	CATSPER2P1	HGNC	pseudogene	OTTHUMT00000133242.1	-	0.00	38	0	C	NR_002318		44028270	-1	tier1	-	no_errors	ENST00000381680	ensembl	human	known	74_37	rna	29.82	40	17	SNP	0.000	G
DRC7	84229	genome.wustl.edu	37	16	57732912	57732912	+	Silent	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr16:57732912C>T	ENST00000360716.3	+	4	575	c.354C>T	c.(352-354)caC>caT	p.H118H	CCDC135_ENST00000394337.4_Silent_p.H118H|CCDC135_ENST00000336825.8_Silent_p.H118H|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN		118					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)		p.H118H(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TCTTCCTGCACCCCCTGAACG	0.637																																																	1	Substitution - coding silent(1)	lung(1)											135.0	132.0	133.0					16																	57732912		2198	4300	6498	SO:0001819	synonymous_variant	0																														ENST00000360716.3:c.354C>T	16.37:g.57732912C>T			A8K943|Q8NAA0|Q9H080	Silent	SNP	NULL	p.H118	ENST00000360716.3	37	c.354	CCDS10787.1	16																																																																																			CCDC135	-	NULL	ENSG00000159625		0.637	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC135	HGNC	protein_coding	OTTHUMT00000433323.2		0.00	26	0	C			57732912	+1			no_errors	ENST00000360716	ensembl	human	known	74_37	silent	7.14	26	2	SNP	1.000	T
CFAP58	159686	genome.wustl.edu	37	10	106160486	106160486	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr10:106160486G>A	ENST00000369704.3	+	13	1998	c.1864G>A	c.(1864-1866)Gat>Aat	p.D622N	snoU13_ENST00000458914.1_RNA	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		622						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TCGGCGCAATGATGAGTTAGC	0.498																																																	0													167.0	143.0	151.0					10																	106160486		2203	4300	6503	SO:0001583	missense	0																														ENST00000369704.3:c.1864G>A	10.37:g.106160486G>A	ENSP00000358718:p.Asp622Asn		D3DRA6|Q8NA27	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.D622N	ENST00000369704.3	37	c.1864	CCDS31282.1	10	.	.	.	.	.	.	.	.	.	.	G	33	5.224311	0.95139	.	.	ENSG00000120051	ENST00000369704	T	0.48522	0.81	5.62	5.62	0.85841	.	0.099113	0.64402	D	0.000002	T	0.61337	0.2339	M	0.78344	2.41	0.80722	D	1	P	0.45768	0.866	P	0.48815	0.591	T	0.60301	-0.7290	10	0.34782	T	0.22	-25.1886	19.645	0.95773	0.0:0.0:1.0:0.0	.	622	Q5T655	CC147_HUMAN	N	622	ENSP00000358718:D622N	ENSP00000358718:D622N	D	+	1	0	CCDC147	106150476	1.000000	0.71417	0.979000	0.43373	0.969000	0.65631	7.948000	0.87774	2.647000	0.89833	0.655000	0.94253	GAT	CCDC147	-	NULL	ENSG00000120051		0.498	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC147	HGNC	protein_coding	OTTHUMT00000050216.1	-	0.00	42	0	G			106160486	+1	tier1	-	no_errors	ENST00000369704	ensembl	human	known	74_37	missense	22.22	28	8	SNP	1.000	A
CCNC	892	genome.wustl.edu	37	6	100006296	100006296	+	Intron	DEL	A	A	-			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr6:100006296delA	ENST00000520429.1	-	5	792				CCNC_ENST00000482541.2_Frame_Shift_Del_p.F141fs|CCNC_ENST00000523985.1_Intron|CCNC_ENST00000523799.1_Intron|CCNC_ENST00000369220.4_Intron|CCNC_ENST00000520371.1_Intron|CCNC_ENST00000518714.1_Intron|CCNC_ENST00000521017.1_Intron	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C						gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|mediator complex (GO:0016592)|nucleoplasm (GO:0005654)							all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		CTCATAAACTAAAAAAAAAAA	0.299																																					GBM(57;273 1020 40094 44454 49348)												0																																										SO:0001627	intron_variant	0				CCDS34502.1, CCDS47461.1	6q21	2008-02-05			ENSG00000112237	ENSG00000112237			1581	protein-coding gene	gene with protein product		123838				1833066	Standard	XM_005267202		Approved	CycC	uc003pqe.3	P24863	OTTHUMG00000015268	ENST00000520429.1:c.346+76T>-	6.37:g.100006296delA			B4DPZ1|Q9H543	Frame_Shift_Del	DEL	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.F141fs	ENST00000520429.1	37	c.423	CCDS34502.1	6																																																																																			CCNC	-	superfamily_Cyclin-like	ENSG00000112237		0.299	CCNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCNC	HGNC	protein_coding	OTTHUMT00000041613.2		0.00	35	0	A	NM_005190		100006296	-1	tier1		no_errors	ENST00000482541	ensembl	human	putative	74_37	frame_shift_del	16.67	50	10	DEL	0.007	-
CD300A	11314	genome.wustl.edu	37	17	72477866	72477866	+	Splice_Site	SNP	C	C	G			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr17:72477866C>G	ENST00000360141.3	+	6	956	c.668C>G	c.(667-669)gCt>gGt	p.A223G	CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Splice_Site_p.A27G|CD300A_ENST00000310828.5_Splice_Site_p.A110G|CD300A_ENST00000577511.1_Splice_Site_p.A93G	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	223					cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CCCACCCAGGCTGCCACGCAG	0.617																																																	0													39.0	31.0	34.0					17																	72477866		2203	4300	6503	SO:0001630	splice_region_variant	0			BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.667-1C>G	17.37:g.72477866C>G			A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.A223G	ENST00000360141.3	37	c.668	CCDS32720.1	17	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927496	0.52759	.	.	ENSG00000167851	ENST00000361933;ENST00000360141;ENST00000310828	T;T	0.41400	1.0;1.0	3.89	-2.08	0.07254	.	.	.	.	.	T	0.30386	0.0763	L	0.54323	1.7	0.09310	N	1	B;B;B	0.31459	0.053;0.324;0.243	B;B;B	0.30495	0.037;0.112;0.116	T	0.37663	-0.9696	9	0.87932	D	0	.	0.752	0.00992	0.3179:0.3331:0.1554:0.1936	.	27;110;223	Q9UGN4-3;Q9UGN4-2;Q9UGN4	.;.;CLM8_HUMAN	G	27;223;110	ENSP00000353259:A223G;ENSP00000308188:A110G	ENSP00000308188:A110G	A	+	2	0	CD300A	69989461	0.005000	0.15991	0.009000	0.14445	0.369000	0.29798	-0.403000	0.07214	-0.311000	0.08754	0.561000	0.74099	GCT	CD300A	-	NULL	ENSG00000167851		0.617	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300A	HGNC	protein_coding	OTTHUMT00000145091.1	-	0.00	60	0	C	NM_007261	Missense_Mutation	72477866	+1	tier1	-	no_errors	ENST00000360141	ensembl	human	known	74_37	missense	39.51	49	32	SNP	0.009	G
CD83	9308	genome.wustl.edu	37	6	14133922	14133922	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr6:14133922G>T	ENST00000379153.3	+	4	596	c.425G>T	c.(424-426)aGa>aTa	p.R142I		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	142					defense response (GO:0006952)|humoral immune response (GO:0006959)|negative regulation of interleukin-4 production (GO:0032713)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|response to organic cyclic compound (GO:0014070)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				AAGAAATACAGAGCGGAGATT	0.353																																																	0													130.0	133.0	132.0					6																	14133922		2203	4300	6503	SO:0001583	missense	0			Z11697	CCDS4532.1, CCDS75403.1	6p23	2013-01-11	2006-03-31		ENSG00000112149	ENSG00000112149		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1703	protein-coding gene	gene with protein product		604534	"""CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)"", ""CD83 molecule """			1378080, 8422464	Standard	NM_001251901		Approved	HB15, BL11	uc003nbi.3	Q01151	OTTHUMG00000014283	ENST00000379153.3:c.425G>T	6.37:g.14133922G>T	ENSP00000368450:p.Arg142Ile		Q5THX9	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom	p.R142I	ENST00000379153.3	37	c.425	CCDS4532.1	6	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706645	0.48412	.	.	ENSG00000112149	ENST00000379153	T	0.48201	0.82	5.71	2.94	0.34122	.	0.260767	0.31381	N	0.007744	T	0.34658	0.0905	L	0.36672	1.1	0.47308	D	0.999381	P	0.52316	0.952	P	0.54460	0.753	T	0.28586	-1.0039	10	0.72032	D	0.01	0.0567	7.7022	0.28630	0.2451:0.0:0.7549:0.0	.	142	Q01151	CD83_HUMAN	I	142	ENSP00000368450:R142I	ENSP00000368450:R142I	R	+	2	0	CD83	14241901	0.995000	0.38212	1.000000	0.80357	0.191000	0.23601	0.442000	0.21628	1.416000	0.47057	0.655000	0.94253	AGA	CD83	-	NULL	ENSG00000112149		0.353	CD83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD83	HGNC	protein_coding	OTTHUMT00000039916.1	-	0.00	34	0	G			14133922	+1	tier1	-	no_errors	ENST00000379153	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.996	T
CDH10	1008	genome.wustl.edu	37	5	24511486	24511486	+	Missense_Mutation	SNP	C	C	G			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr5:24511486C>G	ENST00000264463.4	-	6	1459	c.952G>C	c.(952-954)Gac>Cac	p.D318H		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	318	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTCACGATGTCAAACATATCA	0.433										HNSCC(23;0.051)																																							0													271.0	216.0	235.0					5																	24511486		2203	4300	6503	SO:0001583	missense	0			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.952G>C	5.37:g.24511486C>G	ENSP00000264463:p.Asp318His		Q9ULB3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D318H	ENST00000264463.4	37	c.952	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154222	0.38021	.	.	ENSG00000040731	ENST00000264463	T	0.01787	4.64	5.22	5.22	0.72569	Cadherin (4);Cadherin-like (1);	0.101653	0.64402	D	0.000004	T	0.02494	0.0076	L	0.38649	1.16	0.43622	D	0.996009	B	0.25850	0.136	B	0.32342	0.144	T	0.53408	-0.8443	10	0.72032	D	0.01	.	11.2628	0.49093	0.0:0.9164:0.0:0.0836	.	318	Q9Y6N8	CAD10_HUMAN	H	318	ENSP00000264463:D318H	ENSP00000264463:D318H	D	-	1	0	CDH10	24547243	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	1.915000	0.39976	2.410000	0.81850	0.650000	0.86243	GAC	CDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000040731		0.433	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	-	0.00	49	0	C	NM_006727		24511486	-1	tier1	-	no_errors	ENST00000264463	ensembl	human	known	74_37	missense	71.19	17	42	SNP	1.000	G
CDKN2A	1029	genome.wustl.edu	37	9	21968242	21968242	+	Splice_Site	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr9:21968242C>T	ENST00000304494.5	-	3	728		c.e3-1		CDKN2A_ENST00000578845.2_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000579755.1_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(6)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCGGGGATGTCTGCAGAGGGC	0.542		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1322	Whole gene deletion(1316)|Unknown(6)	haematopoietic_and_lymphoid_tissue(277)|skin(166)|central_nervous_system(163)|lung(140)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(48)|upper_aerodigestive_tract(47)|ovary(33)|breast(30)|kidney(29)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											94.0	95.0	95.0					9																	21968242		2203	4300	6503	SO:0001630	splice_region_variant	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.458-1G>A	9.37:g.21968242C>T			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Splice_Site	SNP	-	e3-1	ENST00000304494.5	37	c.522-1	CCDS6510.1	9	.	.	.	.	.	.	.	.	.	.	C	9.858	1.195455	0.22037	.	.	ENSG00000147889	ENST00000304494	.	.	.	3.2	3.2	0.36748	.	.	.	.	.	.	.	.	.	.	.	0.50467	D	0.99987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1502	0.42788	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDKN2A	21958242	0.325000	0.24660	0.095000	0.20976	0.001000	0.01503	0.291000	0.18994	2.126000	0.65437	0.650000	0.86243	.	CDKN2A	-	-	ENSG00000147889		0.542	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1	-	0.00	115	0	C	NM_000077	Intron	21968242	-1	tier1	-	no_errors	ENST00000361570	ensembl	human	known	74_37	splice_site	59.42	28	41	SNP	0.091	T
CHD2	1106	genome.wustl.edu	37	15	93540191	93540191	+	Silent	SNP	A	A	G			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr15:93540191A>G	ENST00000394196.4	+	29	4668	c.3600A>G	c.(3598-3600)aaA>aaG	p.K1200K	CHD2_ENST00000557381.1_Silent_p.K1200K	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1200					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTTCAGGAAAAGGACCAGGGA	0.393																																																	0													74.0	70.0	71.0					15																	93540191		2197	4298	6495	SO:0001819	synonymous_variant	0			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3600A>G	15.37:g.93540191A>G			C6G482|Q96IP5	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.K1200	ENST00000394196.4	37	c.3600	CCDS10374.2	15																																																																																			CHD2	-	NULL	ENSG00000173575		0.393	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3	-	0.00	66	0	A	NM_001271		93540191	+1	tier1	-	no_errors	ENST00000557381	ensembl	human	putative	74_37	silent	5.95	79	5	SNP	1.000	G
CKAP5	9793	genome.wustl.edu	37	11	46780574	46780574	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:46780574G>T	ENST00000529230.1	-	35	4634	c.4588C>A	c.(4588-4590)Cac>Aac	p.H1530N	SNORD67_ENST00000516618.1_RNA|CKAP5_ENST00000354558.3_Missense_Mutation_p.H1530N|CKAP5_ENST00000312055.5_Missense_Mutation_p.H1530N|CKAP5_ENST00000415402.1_Missense_Mutation_p.H1530N			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1530					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCATCGAAGTGTGGAGAAACA	0.423																																					Ovarian(4;85 273 2202 4844 13323)												0													202.0	174.0	184.0					11																	46780574		2201	4299	6500	SO:0001583	missense	0				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.4588C>A	11.37:g.46780574G>T	ENSP00000432768:p.His1530Asn		Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2	p.H1530N	ENST00000529230.1	37	c.4588	CCDS31477.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.10|12.10	1.837893|1.837893	0.32513|0.32513	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876|ENST00000527333	T;T;T;T|.	0.43294|.	0.95;0.95;0.98;0.98|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59238|0.59238	0.2179|0.2179	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	P;P;P|.	0.52692|.	0.955;0.782;0.675|.	P;P;B|.	0.47162|.	0.54;0.503;0.307|.	T|T	0.51942|0.51942	-0.8641|-0.8641	10|5	0.22109|.	T|.	0.4|.	-10.0342|-10.0342	19.7999|19.7999	0.96502|0.96502	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1530;1530;1530|.	Q14008-3;Q14008-2;Q14008|.	.;.;CKAP5_HUMAN|.	N|K	1530;1530;1530;1530;261|86	ENSP00000432768:H1530N;ENSP00000395302:H1530N;ENSP00000310227:H1530N;ENSP00000346566:H1530N|.	ENSP00000310227:H1530N|.	H|T	-|-	1|2	0|0	CKAP5|CKAP5	46737150|46737150	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.813000|9.813000	0.99286|0.99286	2.751000|2.751000	0.94390|0.94390	0.650000|0.650000	0.86243|0.86243	CAC|ACA	CKAP5	-	superfamily_ARM-type_fold	ENSG00000175216		0.423	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	-	0.00	51	0	G	NM_014756		46780574	-1	tier1	-	no_errors	ENST00000415402	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T
CLK2	1196	genome.wustl.edu	37	1	155238112	155238112	+	Silent	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:155238112G>T	ENST00000368361.4	-	5	841	c.526C>A	c.(526-528)Cga>Aga	p.R176R	CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Silent_p.R175R|CLK2_ENST00000355560.4_Silent_p.R174R|CLK2_ENST00000536801.1_Silent_p.R176R			P49760	CLK2_HUMAN	CDC-like kinase 2	176	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGTACAACTCGGCCGAAGGTC	0.507								Other conserved DNA damage response genes																																									0													67.0	65.0	66.0					1																	155238112		2203	4300	6503	SO:0001819	synonymous_variant	0			L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.526C>A	1.37:g.155238112G>T			B1AVS9|B5MBX6|Q96CQ0	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R176	ENST00000368361.4	37	c.526		1																																																																																			CLK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000176444		0.507	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CLK2	HGNC	protein_coding	OTTHUMT00000087391.1	-	0.00	49	0	G	NM_003993		155238112	-1	tier1	-	no_errors	ENST00000368361	ensembl	human	known	74_37	silent	5.19	73	4	SNP	1.000	T
CMYA5	202333	genome.wustl.edu	37	5	79029456	79029456	+	Missense_Mutation	SNP	A	A	G			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr5:79029456A>G	ENST00000446378.2	+	2	4899	c.4868A>G	c.(4867-4869)gAg>gGg	p.E1623G		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1623					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTGGAACCTGAGAAGAAAGAC	0.433																																																	0													80.0	82.0	81.0					5																	79029456		1860	4103	5963	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4868A>G	5.37:g.79029456A>G	ENSP00000394770:p.Glu1623Gly		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.E1623G	ENST00000446378.2	37	c.4868	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	A	11.36	1.616624	0.28801	.	.	ENSG00000164309	ENST00000446378	T	0.04809	3.55	4.94	1.22	0.21188	.	0.434799	0.19344	N	0.116579	T	0.04182	0.0116	L	0.47190	1.495	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.37361	-0.9709	10	0.40728	T	0.16	.	2.9572	0.05881	0.6232:0.0:0.1954:0.1814	.	1623	Q8N3K9	CMYA5_HUMAN	G	1623	ENSP00000394770:E1623G	ENSP00000394770:E1623G	E	+	2	0	CMYA5	79065212	0.067000	0.21026	0.012000	0.15200	0.134000	0.20937	0.460000	0.21924	0.238000	0.21222	-0.361000	0.07541	GAG	CMYA5	-	NULL	ENSG00000164309		0.433	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	-	0.00	34	0	A	NM_153610		79029456	+1	tier1	-	no_errors	ENST00000446378	ensembl	human	known	74_37	missense	40.00	15	10	SNP	0.166	G
CNTN4	152330	genome.wustl.edu	37	3	3085370	3085370	+	Silent	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:3085370G>T	ENST00000397461.1	+	22	3177	c.2793G>T	c.(2791-2793)tcG>tcT	p.S931S	CNTN4_ENST00000358480.3_Silent_p.S712S|CNTN4_ENST00000448906.2_Silent_p.S603S|CNTN4_ENST00000397459.2_Silent_p.S603S|CNTN4_ENST00000427331.1_Silent_p.S931S|CNTN4_ENST00000418658.1_Silent_p.S931S|CNTN4-AS1_ENST00000442749.2_RNA	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	931	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.S931S(1)|p.S603S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATAATGAGTCGGAAGTAAAAG	0.428																																																	2	Substitution - coding silent(2)	large_intestine(2)											63.0	63.0	63.0					3																	3085370		2203	4300	6503	SO:0001819	synonymous_variant	0			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2793G>T	3.37:g.3085370G>T			B2RAX3|Q8IX14|Q8TC35	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S931	ENST00000397461.1	37	c.2793	CCDS43041.1	3																																																																																			CNTN4	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000144619		0.428	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2		0.00	96	0	G			3085370	+1			no_errors	ENST00000397461	ensembl	human	known	74_37	silent	5.08	56	3	SNP	0.036	T
COG8	84342	genome.wustl.edu	37	16	69366677	69366677	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr16:69366677G>T	ENST00000306875.4	-	4	1636	c.1522C>A	c.(1522-1524)Ccg>Acg	p.P508T	PDF_ENST00000288022.1_5'Flank|RP11-343C2.12_ENST00000562949.1_Intron|COG8_ENST00000562081.1_Missense_Mutation_p.P508T	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	508					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						TTTAAATACGGAACAAGGTCT	0.473																																																	0													115.0	112.0	113.0					16																	69366677		2198	4300	6498	SO:0001583	missense	0			AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"""Components of oligomeric golgi complex"""	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.1522C>A	16.37:g.69366677G>T	ENSP00000305459:p.Pro508Thr		Q0VAK2|Q8WVV6|Q9H6F8	Missense_Mutation	SNP	pfam_COG8,superfamily_Cullin_repeat-like_dom,pirsf_COG8_Metazoal_Plant	p.P508T	ENST00000306875.4	37	c.1522	CCDS10876.1	16	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870179	0.91587	.	.	ENSG00000213380	ENST00000306875	T	0.62639	0.01	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.82893	0.5136	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.84089	0.0389	10	0.59425	D	0.04	0.7941	19.8933	0.96939	0.0:0.0:1.0:0.0	.	535;508	B4DYU2;Q96MW5	.;COG8_HUMAN	T	508	ENSP00000305459:P508T	ENSP00000305459:P508T	P	-	1	0	COG8	67924178	1.000000	0.71417	0.966000	0.40874	0.847000	0.48162	9.379000	0.97198	2.802000	0.96397	0.655000	0.94253	CCG	COG8	-	pirsf_COG8_Metazoal_Plant	ENSG00000213380		0.473	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG8	HGNC	protein_coding	OTTHUMT00000268948.2	-	0.00	58	0	G	NM_032382		69366677	-1	tier1	-	no_errors	ENST00000306875	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T
COL5A2	1290	genome.wustl.edu	37	2	189901379	189901379	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:189901379G>A	ENST00000374866.3	-	52	4350	c.4076C>T	c.(4075-4077)cCt>cTt	p.P1359L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1359	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATACCAAACAGGTTTATTGTC	0.348																																																	0													98.0	87.0	91.0					2																	189901379		2203	4300	6503	SO:0001583	missense	0			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4076C>T	2.37:g.189901379G>A	ENSP00000364000:p.Pro1359Leu		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.P1359L	ENST00000374866.3	37	c.4076	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703828	0.68501	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	T	0.72725	-0.68	5.98	5.98	0.97165	Fibrillar collagen, C-terminal (3);	0.000000	0.51477	D	0.000088	D	0.84451	0.5475	M	0.75884	2.315	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.72338	0.966;0.977	T	0.82022	-0.0663	10	0.39692	T	0.17	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	999;1359	Q5PR22;P05997	.;CO5A2_HUMAN	L	1359;999	ENSP00000364000:P1359L	ENSP00000364000:P1359L	P	-	2	0	COL5A2	189609624	1.000000	0.71417	0.999000	0.59377	0.850000	0.48378	7.863000	0.87023	2.838000	0.97847	0.591000	0.81541	CCT	COL5A2	-	pfam_Fib_collagen_C,smart_Fib_collagen_C	ENSG00000204262		0.348	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	-	0.00	72	0	G	NM_000393		189901379	-1	tier1	-	no_errors	ENST00000374866	ensembl	human	known	74_37	missense	33.90	39	20	SNP	1.000	A
COL4A3	1285	genome.wustl.edu	37	2	228169785	228169785	+	Missense_Mutation	SNP	C	C	T	rs373382431		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:228169785C>T	ENST00000396578.3	+	47	4400	c.4238C>T	c.(4237-4239)tCt>tTt	p.S1413F	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1413	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AACAAAGGTTCTAAAGGAGAG	0.488																																																	0								C	PHE/SER	0,3774		0,0,1887	58.0	58.0	58.0		4238	-2.1	0.0	2		58	1,8221		0,1,4110	no	missense	COL4A3	NM_000091.4	155	0,1,5997	TT,TC,CC		0.0122,0.0,0.0083	benign	1413/1671	228169785	1,11995	1887	4111	5998	SO:0001583	missense	0				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.4238C>T	2.37:g.228169785C>T	ENSP00000379823:p.Ser1413Phe		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.S1413F	ENST00000396578.3	37	c.4238	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	C	12.03	1.814815	0.32053	0.0	1.22E-4	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93076	-3.16	5.7	-2.06	0.07298	.	0.983492	0.08313	N	0.965028	D	0.86130	0.5859	L	0.43757	1.38	0.09310	N	1	P;B;B;B	0.40834	0.73;0.122;0.029;0.021	B;B;B;B	0.37304	0.246;0.037;0.015;0.025	T	0.75676	-0.3235	10	0.17369	T	0.5	.	3.4151	0.07373	0.096:0.4152:0.2507:0.2381	.	1413;1413;1413;1413	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	F	1413	ENSP00000379823:S1413F	ENSP00000323334:S1413F	S	+	2	0	COL4A3	227878029	0.000000	0.05858	0.003000	0.11579	0.994000	0.84299	-0.046000	0.11983	-0.485000	0.06754	0.655000	0.94253	TCT	COL4A3	-	pfam_Collagen	ENSG00000169031		0.488	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	-	0.00	36	0	C	NM_000091		228169785	+1	tier1	-	no_errors	ENST00000396578	ensembl	human	known	74_37	missense	30.56	50	22	SNP	0.000	T
CRBN	51185	genome.wustl.edu	37	3	3192670	3192670	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:3192670G>A	ENST00000231948.4	-	11	1230	c.1208C>T	c.(1207-1209)aCg>aTg	p.T403M	RP11-97C16.1_ENST00000607052.1_RNA|CRBN_ENST00000432408.2_Missense_Mutation_p.T402M	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	403	Thalidomide-binding.				negative regulation of ion transmembrane transport (GO:0034766)|negative regulation of protein homooligomerization (GO:0032463)|positive regulation of protein homodimerization activity (GO:0090073)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP-dependent peptidase activity (GO:0004176)	p.T403M(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	Lenalidomide(DB00480)|Pomalidomide(DB08910)|Thalidomide(DB01041)	TTTGGTGGCCGTAAACTTCCA	0.433																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											112.0	90.0	97.0					3																	3192670		2203	4300	6503	SO:0001583	missense	0			BC017419	CCDS2562.1, CCDS54547.1	3p26.3	2014-05-27			ENSG00000113851	ENSG00000113851			30185	protein-coding gene	gene with protein product		609262	"""mental retardation, non-syndromic, autosomal recessive, 2A"""	MRT2A		15557513	Standard	NM_016302		Approved	MRT2	uc003bpq.3	Q96SW2	OTTHUMG00000090261	ENST00000231948.4:c.1208C>T	3.37:g.3192670G>A	ENSP00000231948:p.Thr403Met		B2R6H4|C9IZA9|C9JAH6|Q6AI62|Q6NVZ0|Q9UHW4	Missense_Mutation	SNP	pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N	p.T403M	ENST00000231948.4	37	c.1208	CCDS2562.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.691801|4.691801	0.88735|0.88735	.|.	.|.	ENSG00000113851|ENSG00000113851	ENST00000424814|ENST00000231948;ENST00000432408;ENST00000546075	.|.	.|.	.|.	5.62|5.62	4.75|4.75	0.60458|0.60458	.|.	.|0.048643	.|0.85682	.|D	.|0.000000	T|T	0.78175|0.78175	0.4242|0.4242	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.976;0.96	.|D;P;B	.|0.69307	.|0.963;0.561;0.358	T|T	0.81189|0.81189	-0.1046|-0.1046	5|9	.|0.66056	.|D	.|0.02	-21.7091|-21.7091	14.4318|14.4318	0.67257|0.67257	0.0706:0.0:0.9294:0.0|0.0706:0.0:0.9294:0.0	.|.	.|337;402;403	.|F5H3U1;Q96SW2-2;Q96SW2	.|.;.;CRBN_HUMAN	W|M	355|403;402;337	.|.	.|ENSP00000231948:T403M	R|T	-|-	1|2	2|0	CRBN|CRBN	3167670|3167670	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	9.640000|9.640000	0.98453|0.98453	1.394000|1.394000	0.46624|0.46624	0.655000|0.655000	0.94253|0.94253	CGG|ACG	CRBN	-	NULL	ENSG00000113851		0.433	CRBN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CRBN	HGNC	protein_coding	OTTHUMT00000206579.3		0.00	39	0	G	NM_016302		3192670	-1			no_errors	ENST00000231948	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	A
COL6A5	256076	genome.wustl.edu	37	3	130107707	130107707	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:130107707C>T	ENST00000432398.2	+	6	2640	c.2146C>T	c.(2146-2148)Caa>Taa	p.Q716*	COL6A5_ENST00000265379.6_Nonsense_Mutation_p.Q716*	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	716	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTTGTAGGTCAATACTTCAC	0.418																																																	0													36.0	32.0	33.0					3																	130107707		692	1591	2283	SO:0001587	stop_gained	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.2146C>T	3.37:g.130107707C>T	ENSP00000390895:p.Gln716*		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Nonsense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.Q716*	ENST00000432398.2	37	c.2146		3	.	.	.	.	.	.	.	.	.	.	C	39	7.485462	0.98312	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	.	.	.	5.48	-1.9	0.07665	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	12.0095	0.53278	0.1826:0.302:0.5154:0.0	.	.	.	.	X	716	.	ENSP00000265379:Q716X	Q	+	1	0	COL6A5	131590397	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.461000	0.06712	-0.028000	0.13850	0.650000	0.86243	CAA	COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.418	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		-	0.00	50	0	C	NM_153264		130107707	+1	tier1	-	no_errors	ENST00000265379	ensembl	human	known	74_37	nonsense	26.42	39	14	SNP	0.000	T
GBA2	57704	genome.wustl.edu	37	9	35736105	35736107	+	IGR	DEL	CAG	CAG	-	rs183600592	byFrequency	TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr9:35736105_35736107delCAG	ENST00000378103.3	-	0	3611				GBA2_ENST00000467252.1_5'Flank|CREB3_ENST00000486056.1_3'UTR|CREB3_ENST00000353704.2_In_Frame_Del_p.S228del	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAAACAAAACCAGCAGCAGCAGC	0.522											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001628	intergenic_variant	0			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35736114_35736116delCAG		857	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	In_Frame_Del	DEL	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.S228in_frame_del	ENST00000378103.3	37	c.672_674	CCDS6589.1	9																																																																																			CREB3	-	NULL	ENSG00000107175		0.522	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CREB3	HGNC	protein_coding	OTTHUMT00000055456.1		0.00	58	0	CAG	NM_020944		35736107	+1	tier1		no_errors	ENST00000353704	ensembl	human	known	74_37	in_frame_del	9.30	39	4	DEL	0.998:1.000:1.000	-
CSPG5	10675	genome.wustl.edu	37	3	47604144	47604144	+	Silent	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:47604144G>T	ENST00000383738.2	-	5	3745	c.1647C>A	c.(1645-1647)ggC>ggA	p.G549G	RN7SL870P_ENST00000460111.2_RNA|CSPG5_ENST00000456150.1_Silent_p.G384G|CSPG5_ENST00000264723.4_Silent_p.G522G	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	549					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGTCACCTTTGCCACCCTCAA	0.507																																																	0													169.0	164.0	166.0					3																	47604144		2203	4300	6503	SO:0001819	synonymous_variant	0			AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.1647C>A	3.37:g.47604144G>T			Q71M39|Q71M40	Silent	SNP	pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt	p.G549	ENST00000383738.2	37	c.1647	CCDS56253.1	3																																																																																			CSPG5	-	pfam_Neural_ProG_Cyt	ENSG00000114646		0.507	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG5	HGNC	protein_coding	OTTHUMT00000257489.1	-	0.00	38	0	G	NM_006574		47604144	-1	tier1	-	no_errors	ENST00000383738	ensembl	human	known	74_37	silent	12.50	35	5	SNP	1.000	T
CUL9	23113	genome.wustl.edu	37	6	43154799	43154799	+	Silent	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr6:43154799G>T	ENST00000252050.4	+	5	1437	c.1353G>T	c.(1351-1353)gtG>gtT	p.V451V	CUL9_ENST00000354495.3_Intron|CUL9_ENST00000372647.2_Silent_p.V451V	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	451					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAGCAGCTGTGGAGAAGGGGG	0.567																																																	0													58.0	54.0	55.0					6																	43154799		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.1353G>T	6.37:g.43154799G>T			O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.V451	ENST00000252050.4	37	c.1353	CCDS4890.1	6																																																																																			CUL9	-	NULL	ENSG00000112659		0.567	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2		0.00	31	0	G	NM_015089		43154799	+1			no_errors	ENST00000252050	ensembl	human	known	74_37	silent	5.88	32	2	SNP	0.100	T
PRR32	100130613	genome.wustl.edu	37	X	125954881	125954881	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chrX:125954881G>T	ENST00000371125.3	+	2	340	c.260G>T	c.(259-261)aGa>aTa	p.R87I		NM_001122716.1	NP_001116188.1	B1ATL7	PRR32_HUMAN		87																	CATAGCTTGAGAGCTCATAGA	0.542																																																	0													86.0	65.0	71.0					X																	125954881		692	1591	2283	SO:0001583	missense	0																														ENST00000371125.3:c.260G>T	X.37:g.125954881G>T	ENSP00000360166:p.Arg87Ile			Missense_Mutation	SNP	NULL	p.R87I	ENST00000371125.3	37	c.260	CCDS48163.1	X	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372082	0.42003	.	.	ENSG00000183631	ENST00000371125	T	0.52295	0.67	4.33	1.59	0.23543	.	0.276731	0.20041	N	0.100515	T	0.46908	0.1417	L	0.29908	0.895	0.09310	N	0.999997	D	0.69078	0.997	D	0.65010	0.931	T	0.28138	-1.0053	10	0.72032	D	0.01	-4.3719	3.922	0.09248	0.2251:0.195:0.5799:0.0	.	87	B1ATL7	CX064_HUMAN	I	87	ENSP00000360166:R87I	ENSP00000360166:R87I	R	+	2	0	CXorf64	125782562	0.585000	0.26774	0.002000	0.10522	0.003000	0.03518	0.988000	0.29616	0.202000	0.20498	-0.192000	0.12808	AGA	CXorf64	-	NULL	ENSG00000183631		0.542	CXorf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf64	HGNC	protein_coding	OTTHUMT00000058188.1		0.00	42	0	G			125954881	+1			no_errors	ENST00000371125	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.001	T
CYP4X1	260293	genome.wustl.edu	37	1	47501605	47501605	+	Splice_Site	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:47501605G>A	ENST00000371901.3	+	5	870	c.620G>A	c.(619-621)aGc>aAc	p.S207N	CYP4X1_ENST00000538609.1_Splice_Site_p.S206N	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	207						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CAGACAAACAGGTCAGTGGTG	0.418																																																	0													99.0	94.0	96.0					1																	47501605		2203	4300	6503	SO:0001630	splice_region_variant	0			AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.620+1G>A	1.37:g.47501605G>A			G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.S207N	ENST00000371901.3	37	c.620	CCDS544.1	1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717471	0.48622	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.78924	-1.22;-0.32	5.76	5.76	0.90799	.	0.332861	0.35805	N	0.002974	T	0.68550	0.3013	L	0.41710	1.295	0.80722	D	1	B;B	0.17038	0.009;0.02	B;B	0.17098	0.017;0.01	T	0.61715	-0.7006	10	0.19147	T	0.46	.	12.8822	0.58024	0.0751:0.0:0.9249:0.0	.	207;206	Q8N118;G3V1U1	CP4X1_HUMAN;.	N	206;207	ENSP00000445965:S206N;ENSP00000360968:S207N	ENSP00000360968:S207N	S	+	2	0	CYP4X1	47274192	1.000000	0.71417	0.992000	0.48379	0.940000	0.58332	6.041000	0.70988	2.723000	0.93209	0.591000	0.81541	AGC	CYP4X1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000186377		0.418	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4X1	HGNC	protein_coding	OTTHUMT00000022017.1	-	0.00	50	0	G	NM_178033	Missense_Mutation	47501605	+1	tier1	-	no_errors	ENST00000371901	ensembl	human	known	74_37	missense	25.00	45	15	SNP	1.000	A
DCAF8L2	347442	genome.wustl.edu	37	X	27766027	27766027	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chrX:27766027G>A	ENST00000451261.2	+	5	1414	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	339										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CACTTCAGGTGAAGATGCTGT	0.453																																																	0													86.0	61.0	69.0					X																	27766027		692	1591	2283	SO:0001583	missense	0				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1015G>A	X.37:g.27766027G>A	ENSP00000462745:p.Glu339Lys		B2RXH9|J3KT06	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E339K	ENST00000451261.2	37	c.1015	CCDS59162.1	X																																																																																			DCAF8L2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000189186		0.453	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	HGNC	protein_coding	OTTHUMT00000056143.4	-	0.00	49	0	G	XM_293354		27766027	+1	tier1	-	no_errors	ENST00000451261	ensembl	human	known	74_37	missense	27.08	35	13	SNP	1.000	A
DCLRE1C	64421	genome.wustl.edu	37	10	14961799	14961799	+	Missense_Mutation	SNP	G	G	T	rs376153057		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr10:14961799G>T	ENST00000378278.2	-	13	1131	c.1094C>A	c.(1093-1095)aCg>aAg	p.T365K	DCLRE1C_ENST00000357717.2_Missense_Mutation_p.T250K|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.T365K|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.T250K|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.T18K|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.T245K|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.T245K|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.T245K|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.T245K|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.T250K|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.T245K			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	365					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						CTTTGGCTCCGTACTTTGGGA	0.428								Non-homologous end-joining																																									0													131.0	126.0	128.0					10																	14961799		2203	4300	6503	SO:0001583	missense	0			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1094C>A	10.37:g.14961799G>T	ENSP00000367527:p.Thr365Lys		D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	pfam_DRMBL	p.T365K	ENST00000378278.2	37	c.1094	CCDS31149.1	10	.	.	.	.	.	.	.	.	.	.	G	4.476	0.088136	0.08583	.	.	ENSG00000152457	ENST00000378289;ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378242	T;T;T;T;T;T;T;T;T;T	0.75477	-0.93;-0.38;-0.39;-0.39;-0.39;-0.38;-0.38;-0.38;-0.94;-0.38	5.07	-3.53	0.04667	.	0.886398	0.10268	N	0.695197	T	0.61726	0.2370	L	0.50333	1.59	0.09310	N	1	B;B;B	0.33413	0.05;0.107;0.411	B;B;B	0.30716	0.021;0.119;0.085	T	0.48139	-0.9061	10	0.30854	T	0.27	.	8.4161	0.32672	0.403:0.0:0.5037:0.0933	.	365;250;365	Q96SD1-4;Q96SD1-3;Q96SD1	.;.;DCR1C_HUMAN	K	365;245;250;250;250;245;245;245;365;245;18	ENSP00000367538:T365K;ENSP00000400529:T245K;ENSP00000367492:T250K;ENSP00000350349:T250K;ENSP00000367496:T250K;ENSP00000380030:T245K;ENSP00000367503:T245K;ENSP00000367502:T245K;ENSP00000367527:T365K;ENSP00000367506:T245K	ENSP00000350349:T250K	T	-	2	0	DCLRE1C	15001805	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	-0.716000	0.04991	-0.794000	0.04468	-1.314000	0.01303	ACG	DCLRE1C	-	NULL	ENSG00000152457		0.428	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1C	HGNC	protein_coding	OTTHUMT00000046934.1	-	0.00	60	0	G	NM_022487		14961799	-1	tier1	-	no_errors	ENST00000378278	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.000	T
DDOST	1650	genome.wustl.edu	37	1	20982214	20982214	+	Silent	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:20982214C>A	ENST00000375048.3	-	4	567	c.462G>T	c.(460-462)acG>acT	p.T154T	DDOST_ENST00000602624.2_Silent_p.T137T|DDOST_ENST00000415136.2_Silent_p.T117T	NM_005216.4	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	154					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|innate immune response (GO:0045087)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|response to cytokine (GO:0034097)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell activation (GO:0042110)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|protein complex (GO:0043234)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAATGACAGCCGTTTTCTCCT	0.537																																																	0													207.0	202.0	204.0					1																	20982214		2203	4300	6503	SO:0001819	synonymous_variant	0			D29643	CCDS212.1	1p36.1	2013-03-06	2013-03-06		ENSG00000244038	ENSG00000244038	2.4.1.119		2728	protein-coding gene	gene with protein product	"""oligosaccharyltransferase subunit 48"""	602202	"""dolichyl-diphosphooligosaccharide-protein glycosyltransferase"", ""dolichyl-diphosphooligosaccharide--protein glycosyltransferase"""			9367678	Standard	NM_005216		Approved	OST, KIAA0115, OST48, WBP1	uc001bdo.1	P39656	OTTHUMG00000002844	ENST00000375048.3:c.462G>T	1.37:g.20982214C>A			B2RDQ4|B4DJE3|B4DLI2|O43244|Q5VWA5|Q8NI93|Q9BUI2	Silent	SNP	pfam_WBP1	p.T154	ENST00000375048.3	37	c.462	CCDS212.1	1																																																																																			DDOST	-	pfam_WBP1	ENSG00000244038		0.537	DDOST-001	KNOWN	basic|CCDS	protein_coding	DDOST	HGNC	protein_coding	OTTHUMT00000007961.2		0.00	18	0	C	NM_005216		20982214	-1			no_errors	ENST00000375048	ensembl	human	known	74_37	silent	9.52	19	2	SNP	0.131	A
DENND2A	27147	genome.wustl.edu	37	7	140244498	140244498	+	Silent	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:140244498G>T	ENST00000275884.6	-	13	2664	c.2247C>A	c.(2245-2247)tcC>tcA	p.S749S	DENND2A_ENST00000537639.1_Silent_p.S749S|DENND2A_ENST00000496613.1_Silent_p.S749S|DENND2A_ENST00000492720.1_Silent_p.S749S			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	749	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GGACGCTGAGGGAGGAGAAGA	0.602																																																	0													45.0	54.0	51.0					7																	140244498		2183	4284	6467	SO:0001819	synonymous_variant	0			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.2247C>A	7.37:g.140244498G>T			C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S749	ENST00000275884.6	37	c.2247	CCDS43659.1	7																																																																																			DENND2A	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000146966		0.602	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	HGNC	protein_coding	OTTHUMT00000348742.1	-	0.00	66	0	G	NM_015689		140244498	-1	tier1	-	no_errors	ENST00000275884	ensembl	human	known	74_37	silent	6.41	73	5	SNP	0.437	T
DERL1	79139	genome.wustl.edu	37	8	124035007	124035007	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr8:124035007G>T	ENST00000259512.4	-	5	670	c.370C>A	c.(370-372)Cct>Act	p.P124T	DERL1_ENST00000519018.1_Missense_Mutation_p.P24T|DERL1_ENST00000419562.2_Intron|DERL1_ENST00000405944.3_Missense_Mutation_p.P124T|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000523036.1_Missense_Mutation_p.P24T	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	124					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			ATGATCAGAGGAATCATCAGC	0.418											OREG0018957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													164.0	144.0	151.0					8																	124035007		2203	4300	6503	SO:0001583	missense	0			BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"""Der1-like domain family, member 1"""			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.370C>A	8.37:g.124035007G>T	ENSP00000259512:p.Pro124Thr	1531	B3KW41|E9PH19	Missense_Mutation	SNP	pfam_DER1	p.P124T	ENST00000259512.4	37	c.370	CCDS6337.1	8	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488557	0.64074	.	.	ENSG00000136986	ENST00000259512;ENST00000405944;ENST00000519018;ENST00000523036	T;T;T;T	0.28895	2.81;1.59;2.81;2.81	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.43919	0.1269	M	0.62016	1.91	0.80722	D	1	B;B	0.26577	0.01;0.153	B;B	0.37731	0.015;0.257	T	0.34925	-0.9809	10	0.62326	D	0.03	.	20.0349	0.97554	0.0:0.0:1.0:0.0	.	124;124	Q9BUN8-2;Q9BUN8	.;DERL1_HUMAN	T	124;124;24;24	ENSP00000259512:P124T;ENSP00000384289:P124T;ENSP00000430086:P24T;ENSP00000429199:P24T	ENSP00000259512:P124T	P	-	1	0	DERL1	124104188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.744000	0.94065	0.650000	0.86243	CCT	DERL1	-	pfam_DER1	ENSG00000136986		0.418	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DERL1	HGNC	protein_coding	OTTHUMT00000381714.2	-	0.00	58	0	G	NM_024295		124035007	-1	tier1	-	no_errors	ENST00000259512	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T
DGKG	1608	genome.wustl.edu	37	3	185929635	185929635	+	Silent	SNP	C	C	T	rs547522584		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:185929635C>T	ENST00000265022.3	-	21	2405	c.1866G>A	c.(1864-1866)tcG>tcA	p.S622S	DGKG_ENST00000382164.4_Silent_p.S583S|DGKG_ENST00000544847.1_Silent_p.S563S|DGKG_ENST00000344484.4_Silent_p.S597S	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	622					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CAAAAGTCTCCGAGGTGCCAA	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		19656	0.0		0.0	False		,,,				2504	0.001																0													124.0	119.0	121.0					3																	185929635		2203	4300	6503	SO:0001819	synonymous_variant	0			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1866G>A	3.37:g.185929635C>T			B2RAH4|Q2M1H4|Q5FWG1	Silent	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.S622	ENST00000265022.3	37	c.1866	CCDS3274.1	3																																																																																			DGKG	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory	ENSG00000058866		0.463	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKG	HGNC	protein_coding	OTTHUMT00000344800.3	-	0.00	55	0	C			185929635	-1	tier1	-	no_errors	ENST00000265022	ensembl	human	known	74_37	silent	23.53	39	12	SNP	0.008	T
DNAH14	127602	genome.wustl.edu	37	1	225490958	225490958	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:225490958C>T	ENST00000445597.2	+	37	6494	c.6494C>T	c.(6493-6495)aCg>aTg	p.T2165M	DNAH14_ENST00000430092.1_Missense_Mutation_p.T2818M|DNAH14_ENST00000439375.2_Missense_Mutation_p.T2818M			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	2165					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						AGCTCCTGCACGATCGATTGG	0.373																																																	0													94.0	92.0	93.0					1																	225490958		692	1591	2283	SO:0001583	missense	0			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.6494C>T	1.37:g.225490958C>T	ENSP00000409472:p.Thr2165Met		A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase	p.T2818M	ENST00000445597.2	37	c.8453		1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001877	0.74932	.	.	ENSG00000185842	ENST00000445597;ENST00000430092;ENST00000439375	T;T;T	0.44482	0.92;0.92;0.92	5.27	5.27	0.74061	.	.	.	.	.	T	0.73171	0.3553	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79446	-0.1800	9	0.54805	T	0.06	.	16.1576	0.81677	0.0:1.0:0.0:0.0	.	2818	Q0VDD8-4	.	M	2165;2818;2818	ENSP00000409472:T2165M;ENSP00000414402:T2818M;ENSP00000392061:T2818M	ENSP00000414402:T2818M	T	+	2	0	DNAH14	223557581	0.997000	0.39634	0.955000	0.39395	0.929000	0.56500	4.529000	0.60588	2.637000	0.89404	0.508000	0.49915	ACG	DNAH14	-	superfamily_P-loop_NTPase	ENSG00000185842		0.373	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	-	0.00	42	0	C	XM_059166		225490958	+1	tier1	-	no_errors	ENST00000430092	ensembl	human	known	74_37	missense	36.84	36	21	SNP	0.988	T
DNAH14	127602	genome.wustl.edu	37	1	225565127	225565127	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:225565127C>A	ENST00000445597.2	+	54	9375	c.9375C>A	c.(9373-9375)aaC>aaA	p.N3125K	DNAH14_ENST00000430092.1_Missense_Mutation_p.N4133K|DNAH14_ENST00000439375.2_Missense_Mutation_p.N4133K			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	3125					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						CCACTGCCAACCTCATGATCA	0.483																																																	0													90.0	84.0	85.0					1																	225565127		692	1591	2283	SO:0001583	missense	0			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.9375C>A	1.37:g.225565127C>A	ENSP00000409472:p.Asn3125Lys		A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase	p.N4133K	ENST00000445597.2	37	c.12399		1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557276	0.27827	.	.	ENSG00000185842	ENST00000445597;ENST00000430092;ENST00000439375	T;T;T	0.28255	2.62;1.62;1.62	5.24	-1.9	0.07665	.	.	.	.	.	T	0.15435	0.0372	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.21552	-1.0242	9	0.37606	T	0.19	.	1.9819	0.03428	0.377:0.3461:0.1224:0.1546	.	4133	Q0VDD8-4	.	K	3125;4133;4133	ENSP00000409472:N3125K;ENSP00000414402:N4133K;ENSP00000392061:N4133K	ENSP00000414402:N4133K	N	+	3	2	DNAH14	223631750	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.009000	0.13219	-0.730000	0.04869	-0.441000	0.05720	AAC	DNAH14	-	pfam_Dynein_heavy_dom	ENSG00000185842		0.483	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	-	0.00	40	0	C	XM_059166		225565127	+1	tier1	-	no_errors	ENST00000430092	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.000	A
DNAH3	55567	genome.wustl.edu	37	16	20970694	20970694	+	Missense_Mutation	SNP	C	C	G			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr16:20970694C>G	ENST00000261383.3	-	54	10632	c.10633G>C	c.(10633-10635)Gga>Cga	p.G3545R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3545	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTGGTACCTCCCATACCAAGA	0.498																																																	0													113.0	104.0	107.0					16																	20970694		2201	4300	6501	SO:0001583	missense	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10633G>C	16.37:g.20970694C>G	ENSP00000261383:p.Gly3545Arg		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.G3545R	ENST00000261383.3	37	c.10633	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916577	0.73098	.	.	ENSG00000158486	ENST00000261383	T	0.07567	3.18	5.41	5.41	0.78517	Dynein heavy chain (1);	1.468830	0.03969	N	0.291356	T	0.39279	0.1072	M	0.82630	2.6	0.80722	D	1	D	0.69078	0.997	D	0.67900	0.954	T	0.02477	-1.1153	10	0.41790	T	0.15	.	19.2193	0.93790	0.0:1.0:0.0:0.0	.	3545	Q8TD57	DYH3_HUMAN	R	3545	ENSP00000261383:G3545R	ENSP00000261383:G3545R	G	-	1	0	DNAH3	20878195	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.524000	0.85096	0.655000	0.94253	GGA	DNAH3	-	pfam_Dynein_heavy_dom	ENSG00000158486		0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	-	0.00	37	0	C	NM_017539		20970694	-1	tier1	-	no_errors	ENST00000261383	ensembl	human	known	74_37	missense	37.25	32	19	SNP	1.000	G
DNM1P46	196968	genome.wustl.edu	37	15	100339944	100339944	+	RNA	SNP	A	A	G			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr15:100339944A>G	ENST00000341853.1	-	0	982					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										CATGCGCAGCATCTCGTCGCG	0.612																																																	0													41.0	38.0	39.0					15																	100339944		876	1991	2867			0			AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100339944A>G			Q3ZCN3	RNA	SNP	-	NULL	ENST00000341853.1	37	NULL		15																																																																																			DNM1P46	-	-	ENSG00000182397		0.612	DNM1P46-002	KNOWN	basic	processed_transcript	DNM1P46	HGNC	pseudogene	OTTHUMT00000313543.1		0.00	46	0	A	NR_003260		100339944	-1			no_errors	ENST00000341853	ensembl	human	known	74_37	rna	5.48	69	4	SNP	1.000	G
DNM1P47	100216544	genome.wustl.edu	37	15	102303947	102303947	+	RNA	SNP	A	A	G			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr15:102303947A>G	ENST00000561463.1	+	0	11993									DNM1 pseudogene 47																		TCGCGTGGGAACGAGAAGACA	0.612																																																	0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102303947A>G				RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			DNM1P47	-	-	ENSG00000259660		0.612	DNM1P47-001	KNOWN	basic	processed_transcript	DNM1P47	HGNC	pseudogene	OTTHUMT00000417589.1	-	0.00	28	0	A	NG_009149		102303947	+1	tier1	-	no_errors	ENST00000561463	ensembl	human	known	74_37	rna	18.00	41	9	SNP	1.000	G
DOCK5	80005	genome.wustl.edu	37	8	25189844	25189844	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr8:25189844G>T	ENST00000276440.7	+	19	2025	c.1981G>T	c.(1981-1983)Gat>Tat	p.D661Y		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	661					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AATGGAAGTGGATGGAGGAGA	0.338																																					Pancreas(145;34 1887 3271 10937 30165)												0													116.0	108.0	111.0					8																	25189844		2203	4300	6503	SO:0001583	missense	0				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1981G>T	8.37:g.25189844G>T	ENSP00000276440:p.Asp661Tyr		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.D661Y	ENST00000276440.7	37	c.1981	CCDS6047.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.698695|4.698695	0.88830|0.88830	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|.	0.20881|.	2.04|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Armadillo-type fold (1);|.	0.190501|.	0.46442|.	D|.	0.000284|.	D|D	0.85217|0.85217	0.5646|0.5646	M|M	0.88704|0.88704	2.975|2.975	0.80722|0.80722	D|D	1|1	D;D;D|.	0.60160|.	0.987;0.984;0.987|.	P;P;P|.	0.61940|.	0.896;0.832;0.896|.	D|D	0.86301|0.86301	0.1680|0.1680	10|5	0.87932|.	D|.	0|.	.|.	20.0989|20.0989	0.97860|0.97860	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	651;436;661|.	D3DSS6;Q68DL4;Q9H7D0|.	.;.;DOCK5_HUMAN|.	Y|V	661|432	ENSP00000276440:D661Y|.	ENSP00000276440:D661Y|.	D|G	+|+	1|2	0|0	DOCK5|DOCK5	25245761|25245761	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.106000|9.106000	0.94253|0.94253	2.764000|2.764000	0.94973|0.94973	0.650000|0.650000	0.86243|0.86243	GAT|GGA	DOCK5	-	superfamily_ARM-type_fold	ENSG00000147459		0.338	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2	-	0.00	71	0	G	NM_024940		25189844	+1	tier1	-	no_errors	ENST00000276440	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T
DOPEY1	23033	genome.wustl.edu	37	6	83847134	83847134	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr6:83847134G>T	ENST00000349129.2	+	21	3633	c.3373G>T	c.(3373-3375)Gaa>Taa	p.E1125*	DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.E1116*|DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.E1106*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1125					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTTGAGTTACGAAGTTGATCC	0.448																																																	0													71.0	69.0	70.0					6																	83847134		2203	4298	6501	SO:0001587	stop_gained	0			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.3373G>T	6.37:g.83847134G>T	ENSP00000195654:p.Glu1125*		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Nonsense_Mutation	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.E1125*	ENST00000349129.2	37	c.3373	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	G	43	10.465731	0.99410	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	.	.	.	5.69	5.69	0.88448	.	0.203042	0.51477	D	0.000094	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	19.8089	0.96540	0.0:0.0:1.0:0.0	.	.	.	.	X	1125;1106;1106	.	ENSP00000237163:E1106X	E	+	1	0	DOPEY1	83903853	1.000000	0.71417	0.987000	0.45799	0.831000	0.47069	7.627000	0.83176	2.677000	0.91161	0.460000	0.39030	GAA	DOPEY1	-	superfamily_ARM-type_fold	ENSG00000083097		0.448	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	-	0.00	53	0	G	NM_015018		83847134	+1	tier1	-	no_errors	ENST00000349129	ensembl	human	known	74_37	nonsense	6.56	57	4	SNP	1.000	T
DPP3	10072	genome.wustl.edu	37	11	66259001	66259001	+	Missense_Mutation	SNP	G	G	T	rs200633983		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:66259001G>T	ENST00000360510.2	+	8	900	c.835G>T	c.(835-837)Gcc>Tcc	p.A279S	DPP3_ENST00000541961.1_Missense_Mutation_p.A279S|DPP3_ENST00000530165.1_Missense_Mutation_p.A249S|DPP3_ENST00000531863.1_Missense_Mutation_p.A299S|DPP3_ENST00000453114.1_Missense_Mutation_p.A279S|DPP3_ENST00000532677.1_Missense_Mutation_p.A298S			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	279					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GCAGATGCTGGCCCAGTATAT	0.657											OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		13769	0.0		0.001	False		,,,				2504	0.0																0													26.0	30.0	29.0					11																	66259001		2200	4295	6495	SO:0001583	missense	0			AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.835G>T	11.37:g.66259001G>T	ENSP00000353701:p.Ala279Ser	1090	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	pirsf_Dipeptidyl-peptase3	p.A279S	ENST00000360510.2	37	c.835	CCDS8141.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.00	2.105260	0.37145	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000533725;ENST00000543807	T;T;T;T;T;T;T	0.47177	2.03;2.03;2.03;2.03;2.03;2.03;0.85	5.21	3.31	0.37934	.	0.264922	0.42682	D	0.000661	T	0.25717	0.0626	N	0.10874	0.06	0.31935	N	0.611625	B;B	0.06786	0.001;0.0	B;B	0.12837	0.004;0.008	T	0.19679	-1.0298	10	0.25751	T	0.34	.	9.306	0.37876	0.1771:0.0:0.8229:0.0	.	298;279	G3V1D3;Q9NY33	.;DPP3_HUMAN	S	299;298;279;279;279;249;177;177	ENSP00000432782:A299S;ENSP00000435284:A298S;ENSP00000353701:A279S;ENSP00000389943:A279S;ENSP00000440502:A279S;ENSP00000436941:A249S;ENSP00000434518:A177S	ENSP00000353701:A279S	A	+	1	0	DPP3	66015577	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	4.666000	0.61554	1.325000	0.45301	-0.140000	0.14226	GCC	DPP3	-	pirsf_Dipeptidyl-peptase3	ENSG00000254986		0.657	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP3	HGNC	protein_coding	OTTHUMT00000393424.2		0.00	41	0	G			66259001	+1			no_errors	ENST00000360510	ensembl	human	known	74_37	missense	5.95	79	5	SNP	1.000	T
DSG3	1830	genome.wustl.edu	37	18	29049300	29049302	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr18:29049300_29049302delCTG	ENST00000257189.4	+	12	1968_1970	c.1885_1887delCTG	c.(1885-1887)ctgdel	p.L633del		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	633					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCTTGGTCTCCTGCTGCTGCTGT	0.586																																																	0																																										SO:0001651	inframe_deletion	0			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1885_1887delCTG	18.37:g.29049309_29049311delCTG	ENSP00000257189:p.Leu633del		A8K2V2	In_Frame_Del	DEL	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.L632in_frame_del	ENST00000257189.4	37	c.1885_1887	CCDS11898.1	18																																																																																			DSG3	-	NULL	ENSG00000134757		0.586	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1		0.00	10	0	CTG	NM_001944		29049302	+1			no_errors	ENST00000257189	ensembl	human	known	74_37	in_frame_del	22.22	7	2	DEL	0.032:0.312:0.304	0
EGLN1	54583	genome.wustl.edu	37	1	231503341	231503341	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:231503341G>A	ENST00000366641.3	-	4	4345	c.1190C>T	c.(1189-1191)gCa>gTa	p.A397V	EGLN1_ENST00000476717.1_5'UTR	NM_022051.2	NP_071334.1			egl-9 family hypoxia-inducible factor 1											breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)				TTTAGCTCGTGCTCTCTCATC	0.378																																																	0													178.0	160.0	166.0					1																	231503341		2203	4300	6503	SO:0001583	missense	0			AJ310543	CCDS1595.1	1q42.1	2013-08-21	2013-08-21	2001-08-24	ENSG00000135766	ENSG00000135766		"""Zinc fingers, MYND-type"""	1232	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 2"""	606425	"""EGL nine (C.elegans) homolog 1"", ""egl nine homolog 1 (C. elegans)"""	C1orf12		11056053	Standard	NM_022051		Approved	SM-20, PHD2, ZMYND6, HIFPH2	uc001huv.2	Q9GZT9	OTTHUMG00000038027	ENST00000366641.3:c.1190C>T	1.37:g.231503341G>A	ENSP00000355601:p.Ala397Val			Missense_Mutation	SNP	pfam_Znf_MYND,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_Znf_MYND	p.A397V	ENST00000366641.3	37	c.1190	CCDS1595.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.594773	0.96602	.	.	ENSG00000135766	ENST00000366641	D	0.87887	-2.31	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.85894	0.5803	M	0.68952	2.095	0.80722	D	1	P	0.47191	0.891	B	0.35470	0.203	D	0.87125	0.2193	10	0.54805	T	0.06	-11.0046	20.5568	0.99304	0.0:0.0:1.0:0.0	.	397	Q9GZT9	EGLN1_HUMAN	V	397	ENSP00000355601:A397V	ENSP00000355601:A397V	A	-	2	0	EGLN1	229569964	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	GCA	EGLN1	-	NULL	ENSG00000135766		0.378	EGLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGLN1	HGNC	protein_coding	OTTHUMT00000092879.1		0.00	41	0	G	NM_022051		231503341	-1			no_errors	ENST00000366641	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	A
EIF2S1	1965	genome.wustl.edu	37	14	67850093	67850093	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr14:67850093G>T	ENST00000256383.4	+	8	1345	c.884G>T	c.(883-885)aGa>aTa	p.R295I	EIF2S1_ENST00000466499.2_Missense_Mutation_p.R295I	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	295					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|protein autophosphorylation (GO:0046777)|regulation of translational initiation in response to stress (GO:0043558)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		AGGCTTGAAAGAGAAAATGCC	0.428																																																	0													89.0	79.0	83.0					14																	67850093		2203	4300	6503	SO:0001583	missense	0			J02645	CCDS9781.1	14q21.3	2011-01-07	2002-08-29		ENSG00000134001	ENSG00000134001			3265	protein-coding gene	gene with protein product		603907	"""eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD )"""	EIF2		2948954	Standard	NM_004094		Approved	EIF-2alpha, EIF2A	uc001xjg.3	P05198	OTTHUMG00000029800	ENST00000256383.4:c.884G>T	14.37:g.67850093G>T	ENSP00000256383:p.Arg295Ile			Missense_Mutation	SNP	pfam_TIF_2_asu,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_TIF2_asu_C,superfamily_TIF2_asu_middle,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.R295I	ENST00000256383.4	37	c.884	CCDS9781.1	14	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389037	0.61956	.	.	ENSG00000134001	ENST00000256383;ENST00000466499	.	.	.	6.16	6.16	0.99307	Translation initiation factor 2, alpha subunit, C-terminal (2);	0.049107	0.85682	D	0.000000	T	0.49304	0.1549	L	0.45470	1.425	0.80722	D	1	B	0.32753	0.383	B	0.27608	0.081	T	0.43426	-0.9392	9	0.34782	T	0.22	-15.012	13.9788	0.64291	0.0686:0.0:0.9314:0.0	.	295	P05198	IF2A_HUMAN	I	295	.	ENSP00000256383:R295I	R	+	2	0	EIF2S1	66919846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.872000	0.75536	2.937000	0.99478	0.650000	0.86243	AGA	EIF2S1	-	superfamily_TIF2_asu_C	ENSG00000134001		0.428	EIF2S1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2S1	HGNC	protein_coding	OTTHUMT00000074342.3	-	0.00	81	0	G	NM_004094		67850093	+1	tier1	-	no_errors	ENST00000256383	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	T
TUBB8P12	260334	genome.wustl.edu	37	18	49960	49961	+	5'UTR	INS	-	-	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr18:49960_49961insT	ENST00000573909.1	-	0	279_280				RP11-683L23.1_ENST00000308911.6_5'Flank|RP11-683L23.1_ENST00000594555.1_5'Flank																							tttgtaatggagattcatttca	0.411																																																	0																																										SO:0001623	5_prime_UTR_variant	0																														ENST00000573909.1:c.-254->A	18.37:g.49960_49961insT				RNA	INS	-	NULL	ENST00000573909.1	37	NULL		18																																																																																			RP11-683L23.1	-	-	ENSG00000173213		0.411	RP11-683L23.1-002	PUTATIVE	not_best_in_genome_evidence|basic	protein_coding	ENSG00000173213	Clone_based_vega_gene	protein_coding	OTTHUMT00000439819.1		0.00	16	0	-			49961	-1	tier1		no_errors	ENST00000575325	ensembl	human	known	74_37	rna	33.33	8	4	INS	0.002:0.002	T
AC024132.1	0	genome.wustl.edu	37	4	27209535	27209535	+	lincRNA	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr4:27209535G>A	ENST00000382007.1	-	0	2100																											GTGAATAGGTGGGAGCAGGCT	0.507																																																	0													133.0	115.0	121.0					4																	27209535		692	1591	2283			0																															4.37:g.27209535G>A				RNA	SNP	-	NULL	ENST00000382007.1	37	NULL		4																																																																																			AC024132.1	-	-	ENSG00000205830		0.507	AC024132.1-001	KNOWN	basic	lincRNA	ENSG00000205830	Clone_based_vega_gene	lincRNA	OTTHUMT00000319578.1	-	0.00	47	0	G			27209535	-1	tier1	-	no_errors	ENST00000382007	ensembl	human	known	74_37	rna	71.05	22	54	SNP	0.002	A
Unknown	0	genome.wustl.edu	37	GL000192.1	197255	197255	+	IGR	SNP	T	T	C			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chrGL000192.1:197255T>C								None (None upstream) : None (None downstream)																							GTCCCGTGAATGATAATGGCG	0.542																																																	0																																										SO:0001628	intergenic_variant	0																															GL000192.1.37:g.197255T>C				Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.I343V		37	c.1027		GL000192.1																																																																																			AL360154.1	-	superfamily_P-loop_NTPase	ENSG00000215642	0	0.542					ENSG00000215642	Clone_based_ensembl_gene			-	0.00	43	0	T			197255	-1	tier1	-	no_errors	ENST00000545452	ensembl	human	novel	74_37	missense	15.62	54	10	SNP	NULL	C
AC092965.1	0	genome.wustl.edu	37	3	166743252	166743252	+	RNA	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:166743252C>T	ENST00000401103.1	+	0	52																											TATATGTATacacacacacac	0.323																																																	0																																												0																															3.37:g.166743252C>T				RNA	SNP	-	NULL	ENST00000401103.1	37	NULL		3																																																																																			AC092965.1	-	-	ENSG00000215922		0.323	AC092965.1-201	NOVEL	basic	miRNA	ENSG00000215922	Clone_based_ensembl_gene	miRNA		-	0.00	44	0	C			166743252	+1	tier1	-	no_errors	ENST00000401103	ensembl	human	novel	74_37	rna	9.09	60	6	SNP	0.022	T
AC011718.2	0	genome.wustl.edu	37	22	20640667	20640687	+	lincRNA	DEL	TCGTATACGGAGTCCTCATTA	TCGTATACGGAGTCCTCATTA	-	rs199788739	byFrequency	TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	TCGTATACGGAGTCCTCATTA	TCGTATACGGAGTCCTCATTA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr22:20640667_20640687delTCGTATACGGAGTCCTCATTA	ENST00000577456.1	-	0	873_893																											ATTAGCGATGTCGTATACGGAGTCCTCATTAGCGATGCCGT	0.57																																																	0																																												0																															22.37:g.20640667_20640687delTCGTATACGGAGTCCTCATTA				RNA	DEL	-	NULL	ENST00000577456.1	37	NULL		22																																																																																			AC011718.2	-	-	ENSG00000223579		0.570	AC011718.2-004	KNOWN	basic	lincRNA	ENSG00000223579	Clone_based_vega_gene	lincRNA	OTTHUMT00000444810.1		0.00	10	0	TCGTATACGGAGTCCTCATTA			20640687	-1			no_errors	ENST00000577456	ensembl	human	known	74_37	rna	15.38	11	2	DEL	0.743:0.719:0.710:0.686:0.642:0.611:0.462:0.463:0.432:0.401:0.250:0.217:0.177:0.167:0.109:0.092:0.034:0.017:0.012:0.014:0.022	0
PHF20L1	51105	genome.wustl.edu	37	8	133854714	133854715	+	Intron	INS	-	-	T	rs71276510|rs398038307		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr8:133854714_133854715insT	ENST00000395386.2	+	19	2686				AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000220847.7_Intron|PHF20L1_ENST00000395390.2_Intron|AF230666.2_ENST00000429151.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1								zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TTGTTAATAGATTTTTTTTTTT	0.356																																																	0																																										SO:0001627	intron_variant	0			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2388-45->T	8.37:g.133854725_133854725dupT			A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	RNA	INS	-	NULL	ENST00000395386.2	37	NULL	CCDS6367.2	8																																																																																			AF230666.2	-	-	ENSG00000223697		0.356	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ENSG00000223697	Clone_based_vega_gene	protein_coding	OTTHUMT00000308949.3		0.00	28	0	-	NM_016018		133854715	-1	tier1		no_errors	ENST00000608375	ensembl	human	known	74_37	rna	20.83	38	10	INS	0.014:0.003	T
PHF21B	112885	genome.wustl.edu	37	22	45297633	45297633	+	Intron	SNP	A	A	C			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr22:45297633A>C	ENST00000313237.5	-	6	982				PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000403565.1_Intron|RP1-127B20.4_ENST00000431036.1_RNA|PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000447824.3_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B								zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GATATTCCCAATCTGCTACAT	0.453																																																	0																																										SO:0001627	intron_variant	0			AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.832-5670T>G	22.37:g.45297633A>C			B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	RNA	SNP	-	NULL	ENST00000313237.5	37	NULL	CCDS14061.1	22																																																																																			RP1-127B20.4	-	-	ENSG00000223730		0.453	PHF21B-001	KNOWN	basic|CCDS	protein_coding	ENSG00000223730	Clone_based_vega_gene	protein_coding	OTTHUMT00000321731.2	-	0.00	26	0	A	NM_138415		45297633	+1	tier1	-	no_errors	ENST00000431036	ensembl	human	known	74_37	rna	36.96	29	17	SNP	0.998	C
AP001347.6	0	genome.wustl.edu	37	21	15461084	15461085	+	RNA	DEL	AG	AG	-	rs199958475|rs9917537	byFrequency	TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr21:15461084_15461085delAG	ENST00000428809.1	+	0	372				AP001347.6_ENST00000432621.1_RNA|AP001347.6_ENST00000448463.1_RNA																							ACTTaaaaaaagaaaagaaaag	0.337																																																	0																																												0																															21.37:g.15461084_15461085delAG				RNA	DEL	-	NULL	ENST00000428809.1	37	NULL		21																																																																																			AP001347.6	-	-	ENSG00000224905		0.337	AP001347.6-001	KNOWN	basic	antisense	ENSG00000224905	Clone_based_vega_gene	antisense	OTTHUMT00000157812.1		0.00	14	0	AG			15461085	+1			no_errors	ENST00000448463	ensembl	human	known	74_37	rna	31.25	11	5	DEL	0.036:0.024	0
RP11-782C8.2	0	genome.wustl.edu	37	1	143189135	143189135	+	lincRNA	SNP	C	C	T	rs202151544		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:143189135C>T	ENST00000412204.2	-	0	2503				RP11-782C8.1_ENST00000438000.1_lincRNA|RP11-782C8.3_ENST00000425124.1_lincRNA																							GTTGTTTAAACAGCTGACATT	0.318																																																	0																																												0																															1.37:g.143189135C>T				RNA	SNP	-	NULL	ENST00000412204.2	37	NULL		1																																																																																			RP11-782C8.2	-	-	ENSG00000232274		0.318	RP11-782C8.2-004	KNOWN	basic	lincRNA	ENSG00000232274	Clone_based_vega_gene	lincRNA	OTTHUMT00000037567.2	-	0.00	23	0	C			143189135	-1	tier1	rs202151544	no_errors	ENST00000447389	ensembl	human	known	74_37	rna	25.00	6	2	SNP	0.003	T
RP11-807H22.5	0	genome.wustl.edu	37	11	71870526	71870526	+	RNA	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:71870526G>A	ENST00000542477.2	+	0	350																											CCAGGTGGCAGCTGCCTGACT	0.537																																																	0																																												0																															11.37:g.71870526G>A				RNA	SNP	-	NULL	ENST00000542477.2	37	NULL		11																																																																																			RP11-807H22.5	-	-	ENSG00000256518		0.537	RP11-807H22.5-002	KNOWN	basic	processed_transcript	ENSG00000256518	Clone_based_vega_gene	pseudogene	OTTHUMT00000396767.2	-	0.00	37	0	G			71870526	+1	tier1	-	no_errors	ENST00000542477	ensembl	human	known	74_37	rna	16.67	20	4	SNP	0.028	A
HECTD4	283450	genome.wustl.edu	37	12	112696504	112696504	+	Intron	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr12:112696504C>A	ENST00000430131.2	-	19	2877				HECTD4_ENST00000550722.1_Intron|RP3-521E19.2_ENST00000547401.1_RNA|HECTD4_ENST00000377560.5_Intron			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4						glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TTTTTACAATCCTAGTCTGCT	0.348																																																	0																																										SO:0001627	intron_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.1732-104G>T	12.37:g.112696504C>A			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	RNA	SNP	-	NULL	ENST00000430131.2	37	NULL		12																																																																																			RP3-521E19.2	-	-	ENSG00000257494		0.348	HECTD4-202	KNOWN	basic	protein_coding	ENSG00000257494	Clone_based_vega_gene	protein_coding		-	0.00	37	0	C	NM_173813		112696504	+1	tier1	-	no_errors	ENST00000547401	ensembl	human	known	74_37	rna	60.42	19	29	SNP	0.335	A
SALL1	6299	genome.wustl.edu	37	16	51183171	51183171	+	Intron	DEL	T	T	-			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr16:51183171delT	ENST00000251020.4	-	1	110				AC009166.5_ENST00000570060.1_RNA|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_Intron|SALL1_ENST00000562674.1_Intron|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1						adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGGCCGAGACTTTTTTTTTTT	0.318																																					GBM(103;1352 1446 1855 4775 8890)												0																																										SO:0001627	intron_variant	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.76+1905A>-	16.37:g.51183171delT			Q99881|Q9NSC3|Q9P1R0	RNA	DEL	-	NULL	ENST00000251020.4	37	NULL	CCDS10747.1	16																																																																																			AC009166.5	-	-	ENSG00000261238		0.318	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261238	Clone_based_vega_gene	protein_coding	OTTHUMT00000256883.2		0.00	31	0	T	NM_002968		51183171	+1	tier1		no_errors	ENST00000570060	ensembl	human	known	74_37	rna	22.22	14	4	DEL	0.007	-
ZNF596	169270	genome.wustl.edu	37	8	183124	183124	+	Intron	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr8:183124G>A	ENST00000398612.1	+	1	311				ZNF596_ENST00000308811.4_Intron|RP5-855D21.3_ENST00000609090.1_RNA|RP5-855D21.1_ENST00000606572.1_RNA|ZNF596_ENST00000320552.2_Intron|ZNF596_ENST00000521238.2_Intron|RPL23AP53_ENST00000606975.1_RNA	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		GGGAAGTTTAGATGGGAAGTG	0.498																																																	0																																										SO:0001627	intron_variant	0			BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"""Zinc fingers, C2H2-type"", ""-"""	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.-73+430G>A	8.37:g.183124G>A			B2R8P4|O95015|Q8N9X0	RNA	SNP	-	NULL	ENST00000398612.1	37	NULL	CCDS5951.2	8																																																																																			RP5-855D21.3	-	-	ENSG00000272812		0.498	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000272812	Clone_based_vega_gene	protein_coding	OTTHUMT00000195858.4	-	0.00	52	0	G	NM_173539		183124	+1	tier1	-	no_errors	ENST00000609090	ensembl	human	known	74_37	rna	10.98	72	9	SNP	0.001	A
F12	2161	genome.wustl.edu	37	5	176832801	176832801	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr5:176832801G>T	ENST00000253496.3	-	4	269	c.221C>A	c.(220-222)gCt>gAt	p.A74D	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	74	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	GGGGGTGGTAGCACACCTGTA	0.582									Hereditary Angioedema																																								0													93.0	96.0	95.0					5																	176832801		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.221C>A	5.37:g.176832801G>T	ENSP00000253496:p.Ala74Asp		P78339	Missense_Mutation	SNP	pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_EG-like_dom,pfam_Fibronectin_type1,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1	p.A74D	ENST00000253496.3	37	c.221	CCDS34302.1	5	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613902	0.87359	.	.	ENSG00000131187	ENST00000253496	T	0.63580	-0.05	5.64	5.64	0.86602	Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);	0.000000	0.48286	D	0.000187	D	0.84602	0.5508	H	0.95365	3.66	0.80722	D	1	D	0.69078	0.997	D	0.65874	0.939	D	0.88956	0.3390	10	0.87932	D	0	.	16.6322	0.85037	0.0:0.0:1.0:0.0	.	74	P00748	FA12_HUMAN	D	74	ENSP00000253496:A74D	ENSP00000253496:A74D	A	-	2	0	F12	176765407	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	5.177000	0.65032	2.664000	0.90586	0.655000	0.94253	GCT	F12	-	pirsf_Coagulation_fac_XIIa/HGFA,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	ENSG00000131187		0.582	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F12	HGNC	protein_coding	OTTHUMT00000373217.1	-	0.00	67	0	G			176832801	-1	tier1	-	no_errors	ENST00000253496	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T
FAM135B	51059	genome.wustl.edu	37	8	139380205	139380205	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr8:139380205C>T	ENST00000395297.1	-	2	192	c.22G>A	c.(22-24)Gtt>Att	p.V8I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	8										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAAAACTCAACCGTTCCTTGT	0.378										HNSCC(54;0.14)																																							0													160.0	152.0	155.0					8																	139380205		1870	4100	5970	SO:0001583	missense	0			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.22G>A	8.37:g.139380205C>T	ENSP00000378710:p.Val8Ile		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.V8I	ENST00000395297.1	37	c.22	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350863	0.61183	.	.	ENSG00000147724	ENST00000395297;ENST00000160713;ENST00000520380	T	0.14893	2.47	5.54	5.54	0.83059	.	0.145058	0.29119	U	0.013085	T	0.11110	0.0271	N	0.21097	0.63	0.35250	D	0.778605	P	0.48503	0.911	B	0.39840	0.311	T	0.20107	-1.0285	10	0.21540	T	0.41	-9.2926	11.8335	0.52309	0.0:0.919:0.0:0.081	.	8	Q49AJ0	F135B_HUMAN	I	8	ENSP00000378710:V8I	ENSP00000160713:V8I	V	-	1	0	FAM135B	139449387	0.994000	0.37717	0.993000	0.49108	0.994000	0.84299	2.902000	0.48703	2.768000	0.95171	0.561000	0.74099	GTT	FAM135B	-	NULL	ENSG00000147724		0.378	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	-	0.00	36	0	C	NM_015912		139380205	-1	tier1	-	no_errors	ENST00000395297	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.995	T
FAM98A	25940	genome.wustl.edu	37	2	33817255	33817255	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:33817255G>T	ENST00000238823.8	-	3	369	c.229C>A	c.(229-231)Ctt>Att	p.L77I	FAM98A_ENST00000403368.1_Missense_Mutation_p.L77I|FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000441530.2_5'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	77							poly(A) RNA binding (GO:0044822)	p.L77I(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CTCACCTCAAGCTGGAATTCT	0.383																																																	2	Substitution - Missense(2)	endometrium(1)|kidney(1)											146.0	142.0	144.0					2																	33817255		2203	4300	6503	SO:0001583	missense	0				CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.229C>A	2.37:g.33817255G>T	ENSP00000238823:p.Leu77Ile		B2RNA2|Q9Y3Y6	Missense_Mutation	SNP	pfam_Uncharacterised_FAM98	p.L77I	ENST00000238823.8	37	c.229	CCDS33179.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.749212	0.96882	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000403368	T;T	0.51325	0.71;0.71	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.69415	0.3108	M	0.68728	2.09	0.80722	D	1	D	0.67145	0.996	D	0.80764	0.994	T	0.65994	-0.6033	10	0.48119	T	0.1	-6.6931	20.6593	0.99626	0.0:0.0:1.0:0.0	.	77	Q8NCA5-2	.	I	77	ENSP00000238823:L77I;ENSP00000384711:L77I	ENSP00000238823:L77I	L	-	1	0	FAM98A	33670759	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.013000	0.88655	2.885000	0.99019	0.655000	0.94253	CTT	FAM98A	-	pfam_Uncharacterised_FAM98	ENSG00000119812		0.383	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM98A	HGNC	protein_coding	OTTHUMT00000325457.2	-	0.00	69	0	G	NM_015475		33817255	-1	tier1	-	no_errors	ENST00000238823	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T
FBXW7	55294	genome.wustl.edu	37	4	153250883	153250883	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr4:153250883G>A	ENST00000281708.4	-	8	2406	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*	FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R313*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R393*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R217*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R275*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R393*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	393					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R393*(7)|p.R313*(1)|p.R154*(1)|p.?(1)|p.R275*(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTAACTATTCGGTTACCACAA	0.343			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	11	Substitution - Nonsense(10)|Unknown(1)	endometrium(5)|large_intestine(4)|haematopoietic_and_lymphoid_tissue(1)|stomach(1)											118.0	107.0	111.0					4																	153250883		2203	4300	6503	SO:0001587	stop_gained	0			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1177C>T	4.37:g.153250883G>A	ENSP00000281708:p.Arg393*		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R393*	ENST00000281708.4	37	c.1177	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966716	0.74131	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	5.99	4.05	0.47172	.	0.053576	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7554	12.3616	0.55207	0.0:0.0953:0.6907:0.214	.	.	.	.	X	393;275;313;217	.	ENSP00000263981:R313X	R	-	1	2	FBXW7	153470333	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.416000	0.66417	1.513000	0.48852	0.650000	0.86243	CGA	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000109670		0.343	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	-	0.00	47	0	G			153250883	-1	tier1	-	no_errors	ENST00000281708	ensembl	human	known	74_37	nonsense	80.00	8	32	SNP	1.000	A
FCHO2	115548	genome.wustl.edu	37	5	72364588	72364588	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr5:72364588G>T	ENST00000430046.2	+	19	1677	c.1561G>T	c.(1561-1563)Gcc>Tcc	p.A521S	FCHO2_ENST00000341845.6_Missense_Mutation_p.A521S|FCHO2_ENST00000512348.1_Missense_Mutation_p.A488S	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	521	Mediates interaction with DAB2, EPS15, EPS15R and ITSN1.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		ATTGAGTGCTGCCAATACTCC	0.408																																																	0													87.0	90.0	89.0					5																	72364588		1933	4141	6074	SO:0001583	missense	0			AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.1561G>T	5.37:g.72364588G>T	ENSP00000393776:p.Ala521Ser		A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom	p.A521S	ENST00000430046.2	37	c.1561	CCDS47230.1	5	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863081	0.32884	.	.	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348	T;T;T	0.36878	1.23;1.23;3.66	5.97	5.97	0.96955	.	0.406008	0.25897	N	0.027598	T	0.28830	0.0715	L	0.29908	0.895	0.41560	D	0.988628	B;B	0.21520	0.057;0.011	B;B	0.15052	0.012;0.005	T	0.14200	-1.0481	10	0.08599	T	0.76	-4.7339	20.4324	0.99085	0.0:0.0:1.0:0.0	.	488;521	E9PG79;Q0JRZ9	.;FCHO2_HUMAN	S	521;521;488	ENSP00000393776:A521S;ENSP00000344034:A521S;ENSP00000427296:A488S	ENSP00000344034:A521S	A	+	1	0	FCHO2	72400344	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.370000	0.79589	2.833000	0.97629	0.585000	0.79938	GCC	FCHO2	-	NULL	ENSG00000157107		0.408	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCHO2	HGNC	protein_coding	OTTHUMT00000368795.3	-	0.00	39	0	G	XM_291142		72364588	+1	tier1	-	no_errors	ENST00000341845	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T
FGD6	55785	genome.wustl.edu	37	12	95603210	95603210	+	Missense_Mutation	SNP	G	G	T	rs199982838		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr12:95603210G>T	ENST00000343958.4	-	2	2073	c.1850C>A	c.(1849-1851)cCt>cAt	p.P617H	FGD6_ENST00000546711.1_Missense_Mutation_p.P617H|FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000549499.1_Missense_Mutation_p.P617H	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	617					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GTCTTTGCAAGGCTTAGTGCA	0.408																																																	0													108.0	107.0	108.0					12																	95603210		2203	4300	6503	SO:0001583	missense	0			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.1850C>A	12.37:g.95603210G>T	ENSP00000344446:p.Pro617His		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.P617H	ENST00000343958.4	37	c.1850	CCDS31878.1	12	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188241	0.57909	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.71461	-0.47;-0.57;-0.53	6.04	6.04	0.98038	.	0.000000	0.48767	D	0.000179	T	0.81964	0.4934	M	0.64997	1.995	0.38185	D	0.939731	D	0.89917	1.0	D	0.73380	0.98	D	0.84236	0.0469	10	0.87932	D	0	-16.0738	15.3129	0.74048	0.0:0.0:0.8602:0.1398	.	617	Q6ZV73	FGD6_HUMAN	H	617	ENSP00000344446:P617H;ENSP00000450342:P617H;ENSP00000449005:P617H	ENSP00000344446:P617H	P	-	2	0	FGD6	94127341	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.343000	0.52167	2.873000	0.98535	0.561000	0.74099	CCT	FGD6	-	NULL	ENSG00000180263		0.408	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD6	HGNC	protein_coding	OTTHUMT00000407600.1		0.00	29	0	G	NM_018351		95603210	-1			no_errors	ENST00000343958	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T
FLCN	201163	genome.wustl.edu	37	17	17131444	17131444	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr17:17131444G>A	ENST00000285071.4	-	4	462	c.8C>T	c.(7-9)gCc>gTc	p.A3V	FLCN_ENST00000389169.5_Missense_Mutation_p.A3V|RP11-45M22.4_ENST00000427497.3_Missense_Mutation_p.A3V	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	3					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGCCACGATGGCATTCATGGT	0.607									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																																								0													42.0	33.0	36.0					17																	17131444		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.8C>T	17.37:g.17131444G>A	ENSP00000285071:p.Ala3Val		A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Missense_Mutation	SNP	pfam_Folliculin	p.A3V	ENST00000285071.4	37	c.8	CCDS32579.1	17	.	.	.	.	.	.	.	.	.	.	G	18.54	3.647193	0.67358	.	.	ENSG00000154803	ENST00000285071;ENST00000389169;ENST00000389168;ENST00000389171	D;D	0.94184	-3.37;-3.1	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.95781	0.8627	L	0.55103	1.725	0.80722	D	1	D;D;D	0.89917	0.996;0.998;1.0	D;D;D	0.80764	0.931;0.994;0.988	D	0.95544	0.8615	10	0.52906	T	0.07	-21.3337	18.4682	0.90763	0.0:0.0:1.0:0.0	.	3;3;3	Q8NFG4-3;Q8NFG4-2;Q8NFG4	.;.;FLCN_HUMAN	V	3	ENSP00000285071:A3V;ENSP00000373821:A3V	ENSP00000285071:A3V	A	-	2	0	FLCN	17072169	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.147000	0.94646	2.606000	0.88127	0.655000	0.94253	GCC	FLCN	-	NULL	ENSG00000154803		0.607	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLCN	HGNC	protein_coding	OTTHUMT00000131577.1	-	0.00	34	0	G	NM_144606		17131444	-1	tier1	-	no_errors	ENST00000285071	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	A
FMN2	56776	genome.wustl.edu	37	1	240255968	240255968	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:240255968C>T	ENST00000319653.9	+	1	789	c.559C>T	c.(559-561)Cat>Tat	p.H187Y		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	187					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTATAGCTTCCATTCGGCTAC	0.622																																																	0													73.0	72.0	72.0					1																	240255968		2203	4300	6503	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.559C>T	1.37:g.240255968C>T	ENSP00000318884:p.His187Tyr		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.H187Y	ENST00000319653.9	37	c.559	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243020	0.39697	.	.	ENSG00000155816	ENST00000319653	T	0.68765	-0.35	3.68	3.68	0.42216	.	0.000000	0.64402	D	0.000007	T	0.79046	0.4380	M	0.61703	1.905	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.82573	-0.0390	10	0.87932	D	0	.	15.9248	0.79609	0.0:1.0:0.0:0.0	.	187	Q9NZ56	FMN2_HUMAN	Y	187	ENSP00000318884:H187Y	ENSP00000318884:H187Y	H	+	1	0	FMN2	238322591	1.000000	0.71417	0.989000	0.46669	0.798000	0.45092	6.826000	0.75298	2.046000	0.60703	0.313000	0.20887	CAT	FMN2	-	NULL	ENSG00000155816		0.622	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0.00	94	0	C	XM_371352		240255968	+1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	30.56	50	22	SNP	1.000	T
FSIP2	401024	genome.wustl.edu	37	2	186665038	186665039	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:186665038_186665039insA	ENST00000424728.1	+	17	11005_11006	c.11005_11006insA	c.(11005-11007)caafs	p.Q3669fs	AC008174.3_ENST00000436557.1_RNA|AC008174.3_ENST00000429929.1_RNA|FSIP2_ENST00000343098.5_Frame_Shift_Ins_p.Q3758fs			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	3669										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCAACTTTTTCAAAAAAATAAG	0.322																																																	0																																										SO:0001589	frameshift_variant	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.11012dupA	2.37:g.186665045_186665045dupA	ENSP00000401306:p.Gln3669fs		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Frame_Shift_Ins	INS	NULL	p.N3760fs	ENST00000424728.1	37	c.11272_11273		2																																																																																			FSIP2	-	NULL	ENSG00000188738		0.322	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3		0.00	87	0	-	NM_173651		186665039	+1	tier1		no_errors	ENST00000343098	ensembl	human	known	74_37	frame_shift_ins	29.69	45	19	INS	0.256:0.278	A
FUCA1	2517	genome.wustl.edu	37	1	24192027	24192027	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:24192027G>T	ENST00000374479.3	-	2	485	c.478C>A	c.(478-480)Cct>Act	p.P160T		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	160					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		TCCCGATGAGGCCCCACGTCT	0.507																																																	0													134.0	126.0	129.0					1																	24192027		2203	4300	6503	SO:0001583	missense	0			BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.478C>A	1.37:g.24192027G>T	ENSP00000363603:p.Pro160Thr		B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Missense_Mutation	SNP	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub	p.P160T	ENST00000374479.3	37	c.478	CCDS244.2	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222177	0.79464	.	.	ENSG00000179163	ENST00000374479	T	0.58797	0.31	5.34	4.4	0.53042	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.048599	0.85682	D	0.000000	D	0.86226	0.5882	H	0.99299	4.505	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92476	0.5989	10	0.87932	D	0	-18.6667	16.1807	0.81895	0.0:0.1335:0.8664:0.0	.	160	P04066	FUCO_HUMAN	T	160	ENSP00000363603:P160T	ENSP00000363603:P160T	P	-	1	0	FUCA1	24064614	1.000000	0.71417	0.931000	0.37212	0.760000	0.43138	7.426000	0.80270	1.338000	0.45544	0.561000	0.74099	CCT	FUCA1	-	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub	ENSG00000179163		0.507	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUCA1	HGNC	protein_coding	OTTHUMT00000008259.2		0.00	31	0	G	NM_000147		24192027	-1			no_errors	ENST00000374479	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T
G3BP2	9908	genome.wustl.edu	37	4	76587143	76587143	+	Silent	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr4:76587143G>A	ENST00000359707.4	-	2	852	c.67C>T	c.(67-69)Ctg>Ttg	p.L23L	G3BP2_ENST00000357854.3_Silent_p.L23L|Y_RNA_ENST00000364774.1_RNA|G3BP2_ENST00000502654.1_Intron|G3BP2_ENST00000395719.3_Silent_p.L23L	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	23	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GCTTTATTCAGCAAAGTATAA	0.363																																																	0													59.0	63.0	62.0					4																	76587143		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.67C>T	4.37:g.76587143G>A			A8K6X1|O60606|O75149|Q9UPA1	Silent	SNP	pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk	p.L23	ENST00000359707.4	37	c.67	CCDS3571.1	4																																																																																			G3BP2	-	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	ENSG00000138757		0.363	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	G3BP2	HGNC	protein_coding	OTTHUMT00000252399.2		0.00	86	0	G	NM_012297		76587143	-1			no_errors	ENST00000359707	ensembl	human	known	74_37	silent	7.27	51	4	SNP	1.000	A
GLG1	2734	genome.wustl.edu	37	16	74496521	74496521	+	Silent	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr16:74496521G>T	ENST00000422840.2	-	21	2798	c.2799C>A	c.(2797-2799)cgC>cgA	p.R933R	GLG1_ENST00000205061.5_Silent_p.R933R|Y_RNA_ENST00000384794.1_RNA|GLG1_ENST00000447066.2_Silent_p.R922R	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	933					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TGGGGTTTAAGCGGTAATCTA	0.398																																																	0													84.0	82.0	82.0					16																	74496521		2198	4300	6498	SO:0001819	synonymous_variant	0				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.2799C>A	16.37:g.74496521G>T			B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Silent	SNP	pfam_Cys-rich_GLG1_repeat	p.R933	ENST00000422840.2	37	c.2799	CCDS45527.1	16																																																																																			GLG1	-	pfam_Cys-rich_GLG1_repeat	ENSG00000090863		0.398	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLG1	HGNC	protein_coding	OTTHUMT00000435750.1	-	0.00	57	0	G	NM_012201		74496521	-1	tier1	-	no_errors	ENST00000205061	ensembl	human	known	74_37	silent	9.76	37	4	SNP	1.000	T
GLI3	2737	genome.wustl.edu	37	7	42003915	42003915	+	3'UTR	SNP	T	T	C			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:42003915T>C	ENST00000395925.3	-	0	4840				GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3						anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TTGCAGTCTTTTTTTCCTAAA	0.403									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													47.0	46.0	46.0					7																	42003915		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.*13A>G	7.37:g.42003915T>C			A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	RNA	SNP	-	NULL	ENST00000395925.3	37	NULL	CCDS5465.1	7																																																																																			GLI3	-	-	ENSG00000106571		0.403	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	-	0.00	53	0	T	NM_000168		42003915	-1	tier1	-	no_errors	ENST00000479210	ensembl	human	known	74_37	rna	31.11	31	14	SNP	0.000	C
GLUD1	2746	genome.wustl.edu	37	10	88820542	88820542	+	Missense_Mutation	SNP	T	T	C			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr10:88820542T>C	ENST00000277865.4	-	8	1196	c.1100A>G	c.(1099-1101)tAt>tGt	p.Y367C	GLUD1_ENST00000537649.1_Missense_Mutation_p.Y200C|GLUD1_ENST00000465164.1_5'UTR|GLUD1_ENST00000544149.1_Missense_Mutation_p.Y234C	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	367					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	GCTTCCTTCATAGGGCTTTGC	0.458																																																	0													183.0	185.0	184.0					10																	88820542		2203	4296	6499	SO:0001583	missense	0			M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.1100A>G	10.37:g.88820542T>C	ENSP00000277865:p.Tyr367Cys		B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH	p.Y367C	ENST00000277865.4	37	c.1100	CCDS7382.1	10	.	.	.	.	.	.	.	.	.	.	T	15.15	2.749063	0.49257	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000535802;ENST00000513510;ENST00000544149	D;D;D	0.95103	-3.61;-3.61;-3.61	5.61	5.61	0.85477	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96423	0.8833	M	0.80982	2.52	0.80722	D	1	D;D	0.71674	0.961;0.998	P;P	0.62298	0.714;0.9	D	0.96298	0.9219	10	0.56958	D	0.05	-10.9149	11.0557	0.47915	0.1712:0.0:0.0:0.8288	.	234;367	B4DGN5;P00367	.;DHE3_HUMAN	C	367;324;200;66;299;234	ENSP00000277865:Y367C;ENSP00000439291:Y200C;ENSP00000444732:Y234C	ENSP00000277865:Y367C	Y	-	2	0	GLUD1	88810522	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	4.178000	0.58284	2.265000	0.75225	0.529000	0.55759	TAT	GLUD1	-	pfam_Glu/Leu/Phe/Val_DH_C,smart_Glu/Leu/Phe/Val_DH_C	ENSG00000148672		0.458	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUD1	HGNC	protein_coding	OTTHUMT00000049188.1	-	0.00	81	0	T	NM_005271		88820542	-1	tier1	-	no_errors	ENST00000277865	ensembl	human	known	74_37	missense	35.29	55	30	SNP	1.000	C
GLYCTK	132158	genome.wustl.edu	37	3	52327044	52327044	+	Missense_Mutation	SNP	T	T	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:52327044T>A	ENST00000436784.2	+	5	1534	c.1474T>A	c.(1474-1476)Ttc>Atc	p.F492I	GLYCTK_ENST00000354773.4_3'UTR|MIR135A1_ENST00000385191.1_RNA|GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000471180.1_Intron|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000305690.8_Intron			Q8IVS8	GLCTK_HUMAN	glycerate kinase	492					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		CTCACATACCTTCTTCTGCTG	0.607																																																	0													110.0	99.0	103.0					3																	52327044		2203	4300	6503	SO:0001583	missense	0				CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380	ENST00000436784.2:c.1474T>A	3.37:g.52327044T>A	ENSP00000389175:p.Phe492Ile		Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Missense_Mutation	SNP	pfam_MOFRL	p.F492I	ENST00000436784.2	37	c.1474	CCDS2852.1	3	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743787	0.69418	.	.	ENSG00000168237	ENST00000436784;ENST00000411757	T	0.77229	-1.08	5.22	5.22	0.72569	MOFRL domain (2);	0.000000	0.85682	D	0.000000	D	0.87708	0.6245	M	0.83852	2.665	0.80722	D	1	D	0.65815	0.995	D	0.64877	0.93	D	0.88928	0.3371	9	.	.	.	-17.7862	15.0889	0.72177	0.0:0.0:0.0:1.0	.	492	Q8IVS8	GLCTK_HUMAN	I	492;426	ENSP00000389175:F492I	.	F	+	1	0	GLYCTK	52302084	1.000000	0.71417	0.983000	0.44433	0.225000	0.24961	7.831000	0.86748	1.974000	0.57490	0.459000	0.35465	TTC	GLYCTK	-	pfam_MOFRL	ENSG00000168237		0.607	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	GLYCTK	HGNC	protein_coding	OTTHUMT00000350835.1	-	0.00	19	0	T	NM_145262		52327044	+1	tier1	-	no_errors	ENST00000436784	ensembl	human	known	74_37	missense	47.37	10	9	SNP	1.000	A
GPBP1	65056	genome.wustl.edu	37	5	56510008	56510008	+	Silent	SNP	A	A	G			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr5:56510008A>G	ENST00000506184.2	+	3	1156	c.51A>G	c.(49-51)ccA>ccG	p.P17P	GPBP1_ENST00000264779.6_Silent_p.P17P|GPBP1_ENST00000514387.2_Intron|GPBP1_ENST00000454432.2_Silent_p.P17P|GPBP1_ENST00000424459.3_Silent_p.P17P|GPBP1_ENST00000511209.1_Silent_p.P17P|GPBP1_ENST00000538707.1_Silent_p.P17P			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	17					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		CTACTCCACCATCATCAACAA	0.413																																																	0													244.0	208.0	220.0					5																	56510008		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.51A>G	5.37:g.56510008A>G			A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Silent	SNP	NULL	p.P17	ENST00000506184.2	37	c.51	CCDS34162.1	5																																																																																			GPBP1	-	NULL	ENSG00000062194		0.413	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPBP1	HGNC	protein_coding	OTTHUMT00000374496.1	-	0.00	50	0	A	NM_022913		56510008	+1	tier1	-	no_errors	ENST00000424459	ensembl	human	known	74_37	silent	75.44	14	43	SNP	1.000	G
GPR1	2825	genome.wustl.edu	37	2	207041720	207041720	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:207041720G>T	ENST00000407325.2	-	3	614	c.252C>A	c.(250-252)ttC>ttA	p.F84L	GPR1_ENST00000437420.1_Missense_Mutation_p.F84L	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	84					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		GAAGAAAAATGAAATCCGCAA	0.488																																																	0													162.0	160.0	160.0					2																	207041720		2203	4300	6503	SO:0001583	missense	0				CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"""GPCR / Class A : Orphans"""	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.252C>A	2.37:g.207041720G>T	ENSP00000384345:p.Phe84Leu		A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR1_orph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_ATII_rcpt	p.F84L	ENST00000407325.2	37	c.252	CCDS2368.1	2	.	.	.	.	.	.	.	.	.	.	G	9.405	1.078932	0.20227	.	.	ENSG00000183671	ENST00000407325;ENST00000437420;ENST00000442134;ENST00000451790;ENST00000447845	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	5.84	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.11707	0.0285	N	0.11341	0.13	0.46298	D	0.99897	B	0.18863	0.031	B	0.22152	0.038	T	0.12967	-1.0527	10	0.30078	T	0.28	.	3.8255	0.08852	0.1403:0.1304:0.5944:0.1348	.	84	P46091	GPR1_HUMAN	L	84	ENSP00000384345:F84L;ENSP00000397535:F84L;ENSP00000414836:F84L;ENSP00000391146:F84L;ENSP00000414524:F84L	ENSP00000384345:F84L	F	-	3	2	GPR1	206749965	1.000000	0.71417	1.000000	0.80357	0.219000	0.24729	1.315000	0.33608	0.815000	0.34398	0.650000	0.86243	TTC	GPR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt	ENSG00000183671		0.488	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR1	HGNC	protein_coding	OTTHUMT00000256394.2		0.00	32	0	G	NM_001098199		207041720	-1			no_errors	ENST00000407325	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.996	T
GRM5	2915	genome.wustl.edu	37	11	88300621	88300621	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:88300621G>T	ENST00000305447.4	-	7	2379	c.2230C>A	c.(2230-2232)Ctt>Att	p.L744I	GRM5_ENST00000393297.1_Missense_Mutation_p.L744I|GRM5_ENST00000455756.2_Missense_Mutation_p.L744I|GRM5_ENST00000418177.2_Missense_Mutation_p.L744I|GRM5_ENST00000305432.5_Missense_Mutation_p.L744I	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	744					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TTGTATCCAAGTGGAGTGACA	0.448																																																	0													166.0	135.0	146.0					11																	88300621		2201	4299	6500	SO:0001583	missense	0			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2230C>A	11.37:g.88300621G>T	ENSP00000306138:p.Leu744Ile		Q6J164	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C	p.L744I	ENST00000305447.4	37	c.2230	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299317	0.60195	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68	5.58	5.58	0.84498	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94807	0.8323	M	0.66939	2.045	0.41138	D	0.98593	D;D	0.76494	0.998;0.999	D;D	0.80764	0.99;0.994	D	0.94063	0.7328	9	.	.	.	.	19.5629	0.95380	0.0:0.0:1.0:0.0	.	744;744	P41594-2;P41594	.;GRM5_HUMAN	I	744	ENSP00000402912:L744I;ENSP00000405690:L744I;ENSP00000305905:L744I;ENSP00000306138:L744I;ENSP00000376975:L744I	.	L	-	1	0	GRM5	87940269	1.000000	0.71417	0.881000	0.34555	0.917000	0.54804	6.719000	0.74718	2.640000	0.89533	0.561000	0.74099	CTT	GRM5	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000168959		0.448	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	HGNC	protein_coding	OTTHUMT00000259226.1		0.00	63	0	G	NM_000842		88300621	-1			no_errors	ENST00000305447	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.997	T
GSPT1	2935	genome.wustl.edu	37	16	12009530	12009531	+	Intron	INS	-	-	CCG	rs71408216|rs374901734		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr16:12009530_12009531insCCG	ENST00000420576.2	-	1	41				GSPT1_ENST00000439887.2_In_Frame_Ins_p.16_16G>GG|AC007216.1_ENST00000583357.1_RNA|GSPT1_ENST00000434724.2_In_Frame_Ins_p.16_16G>GG	NM_001130007.1	NP_001123479.1	P15170	ERF3A_HUMAN	G1 to S phase transition 1						G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						cgctgctgctcccgccgccgcc	0.772																																																	0																																										SO:0001627	intron_variant	0			BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000420576.2:c.61+367->CGG	16.37:g.12009537_12009539dupCCG			J3KQG6|Q96GF2	In_Frame_Ins	INS	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom	p.17in_frame_insG	ENST00000420576.2	37	c.48_47	CCDS45414.1	16																																																																																			GSPT1	-	NULL	ENSG00000103342		0.772	GSPT1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	GSPT1	HGNC	protein_coding	OTTHUMT00000421514.1		0.00	8	0	-	NM_002094		12009531	-1	tier1		no_errors	ENST00000434724	ensembl	human	known	74_37	in_frame_ins	36.36	7	4	INS	0.678:0.684	CCG
HCRTR1	3061	genome.wustl.edu	37	1	32084943	32084943	+	Silent	SNP	C	C	T	rs201247112		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:32084943C>T	ENST00000373706.5	+	1	303	c.150C>T	c.(148-150)atC>atT	p.I50I	HCRTR1_ENST00000403528.2_Silent_p.I50I|HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373705.1_Silent_p.I50I			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	50					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		GGGTCCTCATCGCAGCCTATG	0.587																																																	0													138.0	140.0	139.0					1																	32084943		2203	4300	6503	SO:0001819	synonymous_variant	0			AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.150C>T	1.37:g.32084943C>T			A8K3A6|Q9HBV6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_1,prints_NPY_rcpt	p.I50	ENST00000373706.5	37	c.150	CCDS344.1	1																																																																																			HCRTR1	-	prints_GPCR_Rhodpsn	ENSG00000121764		0.587	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCRTR1	HGNC	protein_coding	OTTHUMT00000011042.1	-	0.00	41	0	C	NM_001525		32084943	+1	tier1	rs201247112	no_errors	ENST00000373706	ensembl	human	known	74_37	silent	33.33	26	13	SNP	1.000	T
HERC2	8924	genome.wustl.edu	37	15	28514546	28514546	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr15:28514546C>A	ENST00000261609.7	-	11	1402	c.1294G>T	c.(1294-1296)Gga>Tga	p.G432*		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TATTTCCATCCTATTAACCCC	0.433																																																	0													153.0	123.0	133.0					15																	28514546		2203	4300	6503	SO:0001587	stop_gained	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1294G>T	15.37:g.28514546C>A	ENSP00000261609:p.Gly432*			Nonsense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.G432*	ENST00000261609.7	37	c.1294	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	C	39	7.589824	0.98378	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	20.3206	0.98668	0.0:1.0:0.0:0.0	.	.	.	.	X	432	.	ENSP00000261609:G432X	G	-	1	0	HERC2	26188141	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.274000	0.78538	2.809000	0.96659	0.655000	0.94253	GGA	HERC2	-	superfamily_RCC1/BLIP-II	ENSG00000128731		0.433	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	-	0.00	35	0	C	NM_004667		28514546	-1	tier1	-	no_errors	ENST00000261609	ensembl	human	known	74_37	nonsense	7.41	50	4	SNP	1.000	A
HGFAC	3083	genome.wustl.edu	37	4	3443800	3443800	+	Silent	SNP	G	G	C	rs372137428		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr4:3443800G>C	ENST00000382774.3	+	1	187	c.72G>C	c.(70-72)ctG>ctC	p.L24L	HGFAC_ENST00000511533.1_Silent_p.L24L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	24					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTGCTGCTGCTGC	0.716													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13355	0.0		0.0	False		,,,				2504	0.0																0								G		5,3433		0,5,1714	13.0	16.0	15.0		72	0.1	1.0	4		15	0,7164		0,0,3582	no	coding-synonymous	HGFAC	NM_001528.2		0,5,5296	CC,CG,GG		0.0,0.1454,0.0472		24/656	3443800	5,10597	1719	3582	5301	SO:0001819	synonymous_variant	0			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.72G>C	4.37:g.3443800G>C			Q14726|Q2M1W7|Q53X47	Silent	SNP	pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L24	ENST00000382774.3	37	c.72	CCDS3369.1	4																																																																																			HGFAC	-	pirsf_Coagulation_fac_XIIa/HGFA	ENSG00000109758		0.716	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGFAC	HGNC	protein_coding	OTTHUMT00000206607.3		0.00	26	0	G			3443800	+1			no_errors	ENST00000382774	ensembl	human	known	74_37	silent	9.26	49	5	SNP	0.998	C
HIPK2	28996	genome.wustl.edu	37	7	139281575	139281575	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:139281575C>T	ENST00000406875.3	-	12	2699	c.2605G>A	c.(2605-2607)Gaa>Aaa	p.E869K	HIPK2_ENST00000342645.6_Intron|HIPK2_ENST00000428878.2_Missense_Mutation_p.E842K	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	869	Interaction with CTBP1. {ECO:0000250}.|Interaction with HMGA1. {ECO:0000250}.|Interaction with POU4F1. {ECO:0000250}.|Interaction with TP53 and TP73.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|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)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CGCTGCCGTTCCCGGGTGGTG	0.642																																																	0													63.0	72.0	69.0					7																	139281575		2193	4291	6484	SO:0001583	missense	0			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2605G>A	7.37:g.139281575C>T	ENSP00000385571:p.Glu869Lys		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E869K	ENST00000406875.3	37	c.2605		7	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043059	0.36085	.	.	ENSG00000064393	ENST00000406875;ENST00000428878	T;T	0.22945	1.93;1.93	5.26	5.26	0.73747	.	.	.	.	.	T	0.12263	0.0298	.	.	.	0.46521	D	0.999083	B;B	0.30741	0.293;0.122	B;B	0.25291	0.039;0.059	T	0.09378	-1.0677	8	0.07325	T	0.83	.	12.3849	0.55327	0.0:0.9239:0.0:0.0761	.	869;842	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	K	869;842	ENSP00000385571:E869K;ENSP00000413724:E842K	ENSP00000385571:E869K	E	-	1	0	HIPK2	138932115	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.243000	0.65395	2.746000	0.94184	0.655000	0.94253	GAA	HIPK2	-	NULL	ENSG00000064393		0.642	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	HIPK2	HGNC	protein_coding	OTTHUMT00000349430.3		0.00	26	0	C	NM_022740		139281575	-1			no_errors	ENST00000406875	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T
HMGN2	3151	genome.wustl.edu	37	1	26799025	26799025	+	5'UTR	DEL	C	C	-			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:26799025delC	ENST00000361427.5	+	0	16					NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN	high mobility group nucleosomal binding domain 2							chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|lung(2)	3		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		GCGAGAACGACCCCCGGACCG	0.642																																																	0													1.0	2.0	2.0					1																	26799025		216	831	1047	SO:0001623	5_prime_UTR_variant	0			BC081567	CCDS283.1	1p36.1	2011-07-01	2011-04-05	2002-08-16	ENSG00000198830	ENSG00000198830		"""High-mobility group / Canonical"""	4986	protein-coding gene	gene with protein product		163910	"""high-mobility group (nonhistone chromosomal) protein 17"", ""high-mobility group nucleosomal binding domain 2"""	HMG17		2037294	Standard	NM_005517		Approved		uc001bmp.4	P05204	OTTHUMG00000003555	ENST00000361427.5:c.-79C>-	1.37:g.26799025delC			Q0VGD5|Q6FGI5|Q96C64	RNA	DEL	-	NULL	ENST00000361427.5	37	NULL	CCDS283.1	1																																																																																			HMGN2	-	-	ENSG00000198830		0.642	HMGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN2	HGNC	protein_coding	OTTHUMT00000009901.1		0.00	23	0	C	NM_005517		26799025	+1	tier1		no_errors	ENST00000460563	ensembl	human	known	74_37	rna	9.09	20	2	DEL	1.000	-
HMGXB4	10042	genome.wustl.edu	37	22	35661544	35661544	+	Frame_Shift_Del	DEL	A	A	-	rs76572304		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr22:35661544delA	ENST00000216106.5	+	5	1291	c.1163delA	c.(1162-1164)gaafs	p.E388fs	HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.E279fs	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	388					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCATAGTGAaaaaaaaaag	0.493																																																	0																																										SO:0001589	frameshift_variant	0			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1163delA	22.37:g.35661544delA	ENSP00000216106:p.Glu388fs		O75672|O75673|Q9UMT5	Frame_Shift_Del	DEL	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.K391fs	ENST00000216106.5	37	c.1163	CCDS33641.1	22																																																																																			HMGXB4	-	superfamily_HMG_box_dom	ENSG00000100281		0.493	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HMGXB4	HGNC	protein_coding	OTTHUMT00000318104.2		0.00	18	0	A	NM_005487		35661544	+1	tier1		no_errors	ENST00000216106	ensembl	human	known	74_37	frame_shift_del	6.06	31	2	DEL	1.000	-
HOXA9	3205	genome.wustl.edu	37	7	27203308	27203308	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:27203308G>T	ENST00000343483.6	-	2	805	c.733C>A	c.(733-735)Ctc>Atc	p.L245I	RP1-170O19.20_ENST00000465941.1_5'UTR|HOXA9_ENST00000497089.1_5'UTR|HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.L85I	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	245					endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						CTCTCGGTGAGGTTGAGCAGT	0.502			T	"""NUP98, MSI2"""	AML*																																			Dom	yes		7	7p15-p14.2	3205	homeo box A9		L	0													145.0	141.0	142.0					7																	27203308		2203	4300	6503	SO:0001583	missense	0				CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"""Homeoboxes / ANTP class : HOXL subclass"""	5109	protein-coding gene	gene with protein product		142956	"""homeo box A9"""	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.733C>A	7.37:g.27203308G>T	ENSP00000343619:p.Leu245Ile		O43369|O43429|Q99820	Missense_Mutation	SNP	pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.L245I	ENST00000343483.6	37	c.733	CCDS5409.1	7	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883927	0.72410	.	.	ENSG00000078399;ENSG00000078399;ENSG00000078399;ENSG00000257184	ENST00000343483;ENST00000354032;ENST00000242050;ENST00000470747	D;D	0.98012	-4.66;-4.66	5.21	3.39	0.38822	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.46758	D	0.000266	D	0.98639	0.9544	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99044	1.0825	10	0.87932	D	0	.	9.9343	0.41541	0.2244:0.0:0.7756:0.0	.	245	P31269	HXA9_HUMAN	I	245;169;236;85	ENSP00000343619:L245I;ENSP00000421799:L85I	ENSP00000242050:L236I	L	-	1	0	RP1-170O19.20;HOXA9	27169833	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.710000	0.47169	1.356000	0.45884	0.561000	0.74099	CTC	HOXA9	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa	ENSG00000078399		0.502	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA9	HGNC	protein_coding	OTTHUMT00000358706.2		0.00	73	0	G			27203308	-1			no_errors	ENST00000343483	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T
HRNR	388697	genome.wustl.edu	37	1	152186614	152186614	+	Silent	SNP	C	C	G			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:152186614C>G	ENST00000368801.2	-	3	7566	c.7491G>C	c.(7489-7491)tcG>tcC	p.S2497S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2497					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCACAGCTCGATGACTGTC	0.557																																																	0													1.0	1.0	1.0					1																	152186614		84	271	355	SO:0001819	synonymous_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.7491G>C	1.37:g.152186614C>G			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.S2497	ENST00000368801.2	37	c.7491	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0.00	19	0	C	XM_373868		152186614	-1	tier1	-	no_errors	ENST00000368801	ensembl	human	known	74_37	silent	38.89	11	7	SNP	0.000	G
HSPA6	3310	genome.wustl.edu	37	1	161495361	161495361	+	Missense_Mutation	SNP	G	G	C			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:161495361G>C	ENST00000309758.4	+	1	1326	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	305					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGCCCGCTTTGAGGAACTGTG	0.627																																																	0													26.0	29.0	28.0					1																	161495361		2202	4300	6502	SO:0001583	missense	0				CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.913G>C	1.37:g.161495361G>C	ENSP00000310219:p.Glu305Gln		Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.E305Q	ENST00000309758.4	37	c.913	CCDS1231.1	1	.	.	.	.	.	.	.	.	.	.	.	18.55	3.648758	0.67358	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01246	5.11	3.12	3.12	0.35913	.	0.000000	0.39341	U	0.001397	T	0.08802	0.0218	H	0.97587	4.035	0.47065	D	0.999307	D	0.89917	1.0	D	0.97110	1.0	T	0.01930	-1.1245	10	0.87932	D	0	.	11.6907	0.51514	0.0:0.0:1.0:0.0	.	305	P17066	HSP76_HUMAN	Q	305;281	ENSP00000310219:E305Q	ENSP00000310219:E305Q	E	+	1	0	HSPA6	159761985	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.653000	0.74382	1.544000	0.49359	0.543000	0.68304	GAG	HSPA6	-	pfam_Hsp_70_fam,pfam_MreB_Mrl	ENSG00000173110		0.627	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA6	HGNC	protein_coding	OTTHUMT00000083308.1	-	0.00	83	0	G	NM_002155		161495361	+1	tier1	-	no_errors	ENST00000309758	ensembl	human	known	74_37	missense	34.72	47	25	SNP	1.000	C
HTR1B	3351	genome.wustl.edu	37	6	78172544	78172544	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr6:78172544C>A	ENST00000369947.2	-	1	946	c.577G>T	c.(577-579)Gaa>Taa	p.E193*		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	193					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)			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)	ACCTCCTCTTCGGCCTTAGCC	0.592																																																	0													68.0	73.0	71.0					6																	78172544		2203	4300	6503	SO:0001587	stop_gained	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.577G>T	6.37:g.78172544C>A	ENSP00000358963:p.Glu193*		Q4VAY7	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_ADR_fam	p.E193*	ENST00000369947.2	37	c.577	CCDS4986.1	6	.	.	.	.	.	.	.	.	.	.	C	39	7.300736	0.98196	.	.	ENSG00000135312	ENST00000369947	.	.	.	5.24	3.4	0.38934	.	0.117710	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.273	0.49150	0.1433:0.7188:0.1379:0.0	.	.	.	.	X	193	.	.	E	-	1	0	HTR1B	78229263	1.000000	0.71417	0.986000	0.45419	0.917000	0.54804	5.823000	0.69272	0.724000	0.32296	0.555000	0.69702	GAA	HTR1B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000135312		0.592	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1B	HGNC	protein_coding	OTTHUMT00000041292.1		0.00	20	0	C	NM_000863		78172544	-1			no_errors	ENST00000369947	ensembl	human	known	74_37	nonsense	11.11	16	2	SNP	1.000	A
IBSP	3381	genome.wustl.edu	37	4	88732603	88732603	+	Missense_Mutation	SNP	C	C	A	rs200405481		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr4:88732603C>A	ENST00000226284.5	+	7	562	c.495C>A	c.(493-495)agC>agA	p.S165R		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	165	Asp/Glu-rich (acidic).				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)		p.S165S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		acgaagaaagcgaagcagaag	0.458																																																	1	Substitution - coding silent(1)	large_intestine(1)						C	ARG/SER	1,4405	2.1+/-5.4	0,1,2202	137.0	127.0	131.0		495	-0.3	0.9	4		131	1,8599	1.2+/-3.3	0,1,4299	yes	missense	IBSP	NM_004967.3	110	0,2,6501	AA,AC,CC		0.0116,0.0227,0.0154	benign	165/318	88732603	2,13004	2203	4300	6503	SO:0001583	missense	0				CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.495C>A	4.37:g.88732603C>A	ENSP00000226284:p.Ser165Arg			Missense_Mutation	SNP	pfam_BSP_II	p.S165R	ENST00000226284.5	37	c.495	CCDS3624.1	4	.	.	.	.	.	.	.	.	.	.	C	8.464	0.856007	0.17106	2.27E-4	1.16E-4	ENSG00000029559	ENST00000226284	T	0.11385	2.78	4.64	-0.33	0.12683	.	1.050360	0.07355	N	0.883079	T	0.08447	0.0210	N	0.24115	0.695	0.20638	N	0.999871	P	0.35174	0.488	B	0.42188	0.379	T	0.37842	-0.9688	10	0.37606	T	0.19	.	1.6325	0.02735	0.146:0.3633:0.1389:0.3518	.	165	P21815	SIAL_HUMAN	R	165	ENSP00000226284:S165R	ENSP00000226284:S165R	S	+	3	2	IBSP	88951627	0.684000	0.27642	0.950000	0.38849	0.851000	0.48451	-0.462000	0.06704	-0.235000	0.09767	0.591000	0.81541	AGC	IBSP	-	pfam_BSP_II	ENSG00000029559		0.458	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBSP	HGNC	protein_coding	OTTHUMT00000253050.2		0.00	29	0	C			88732603	+1			no_errors	ENST00000226284	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.693	A
ICK	22858	genome.wustl.edu	37	6	52876632	52876632	+	Missense_Mutation	SNP	C	C	T	rs55895113		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr6:52876632C>T	ENST00000350082.5	-	11	1773	c.1427G>A	c.(1426-1428)cGa>cAa	p.R476Q	ICK_ENST00000356971.3_Missense_Mutation_p.R476Q	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	476			R -> Q (in dbSNP:rs55895113). {ECO:0000269|PubMed:17344846}.		intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					GGGCGTGTCTCGCCGCTGATA	0.493																																																	0													101.0	104.0	103.0					6																	52876632		2203	4300	6503	SO:0001583	missense	0			AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.1427G>A	6.37:g.52876632C>T	ENSP00000263043:p.Arg476Gln		A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R476Q	ENST00000350082.5	37	c.1427	CCDS4949.1	6	.	.	.	.	.	.	.	.	.	.	C	8.905	0.957315	0.18507	.	.	ENSG00000112144	ENST00000350082;ENST00000356971	T;T	0.71341	-0.56;-0.56	5.66	3.64	0.41730	.	0.536026	0.19715	N	0.107702	T	0.20901	0.0503	N	0.04043	-0.29	0.29030	N	0.885777	B	0.13145	0.007	B	0.09377	0.004	T	0.06954	-1.0798	10	0.22706	T	0.39	-10.7503	4.15	0.10234	0.0:0.5342:0.0:0.4658	rs55895113	476	Q9UPZ9	ICK_HUMAN	Q	476	ENSP00000263043:R476Q;ENSP00000349458:R476Q	ENSP00000263043:R476Q	R	-	2	0	ICK	52984591	1.000000	0.71417	0.956000	0.39512	0.270000	0.26580	2.103000	0.41806	1.397000	0.46682	0.561000	0.74099	CGA	ICK	-	NULL	ENSG00000112144		0.493	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICK	HGNC	protein_coding	OTTHUMT00000040952.1	-	0.00	30	0	C	NM_016513		52876632	-1	tier1	rs55895113	no_errors	ENST00000350082	ensembl	human	known	74_37	missense	32.14	19	9	SNP	0.996	T
IL4R	3566	genome.wustl.edu	37	16	27373787	27373789	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr16:27373787_27373789delGAG	ENST00000395762.2	+	11	1373_1375	c.1114_1116delGAG	c.(1114-1116)gagdel	p.E376del	IL4R_ENST00000170630.2_In_Frame_Del_p.E376del|IL4R_ENST00000380922.3_In_Frame_Del_p.E361del|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000543915.2_In_Frame_Del_p.E376del	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	376	Poly-Glu.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GGTGGAGTGTGAGGAGGAGGAGG	0.591																																																	0																																										SO:0001651	inframe_deletion	0			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1114_1116delGAG	16.37:g.27373796_27373798delGAG	ENSP00000379111:p.Glu376del		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	In_Frame_Del	DEL	pfam_IL-4_rcpt-alpha_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.E375in_frame_del	ENST00000395762.2	37	c.1114_1116	CCDS10629.1	16																																																																																			IL4R	-	NULL	ENSG00000077238		0.591	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL4R	HGNC	protein_coding	OTTHUMT00000214104.4		0.00	34	0	GAG			27373789	+1	tier1		no_errors	ENST00000170630	ensembl	human	known	74_37	in_frame_del	7.32	38	3	DEL	0.644:0.873:0.910	-
INTS1	26173	genome.wustl.edu	37	7	1533526	1533526	+	Silent	SNP	G	G	C			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:1533526G>C	ENST00000404767.3	-	15	2017	c.1932C>G	c.(1930-1932)tcC>tcG	p.S644S	INTS1_ENST00000389470.4_Silent_p.S772S	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	644					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGGGCACCTCGGAGCACAGAC	0.677																																																	0													16.0	23.0	21.0					7																	1533526		2016	4159	6175	SO:0001819	synonymous_variant	0			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1932C>G	7.37:g.1533526G>C			A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.S772	ENST00000404767.3	37	c.2316	CCDS47526.1	7																																																																																			INTS1	-	NULL	ENSG00000164880		0.677	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	-	0.00	80	0	G			1533526	-1	tier1	-	no_errors	ENST00000389470	ensembl	human	known	74_37	silent	28.09	64	25	SNP	0.002	C
ITGA10	8515	genome.wustl.edu	37	1	145532152	145532152	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:145532152G>T	ENST00000369304.3	+	8	971	c.796G>T	c.(796-798)Gag>Tag	p.E266*	ITGA10_ENST00000481236.1_3'UTR|ITGA10_ENST00000538811.1_Nonsense_Mutation_p.E135*|ITGA10_ENST00000539363.1_Nonsense_Mutation_p.E123*	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	266	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGGCCGACCCGAGGCTGCCAG	0.552																																																	0													88.0	90.0	89.0					1																	145532152		2203	4300	6503	SO:0001587	stop_gained	0			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.796G>T	1.37:g.145532152G>T	ENSP00000358310:p.Glu266*		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Nonsense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.E266*	ENST00000369304.3	37	c.796	CCDS918.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.184303	0.94885	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	.	.	.	5.2	4.29	0.51040	.	0.196790	0.44285	D	0.000474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	11.8385	0.52340	0.086:0.0:0.914:0.0	.	.	.	.	X	266;232;123;135	.	ENSP00000358310:E266X	E	+	1	0	ITGA10	144243509	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.365000	0.97139	1.359000	0.45940	0.511000	0.50034	GAG	ITGA10	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000143127		0.552	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	HGNC	protein_coding	OTTHUMT00000038537.2		0.00	23	0	G	NM_003637		145532152	+1			no_errors	ENST00000369304	ensembl	human	known	74_37	nonsense	6.67	28	2	SNP	1.000	T
ITGA11	22801	genome.wustl.edu	37	15	68612554	68612554	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr15:68612554G>A	ENST00000315757.7	-	20	2671	c.2585C>T	c.(2584-2586)gCa>gTa	p.A862V	ITGA11_ENST00000423218.2_Missense_Mutation_p.A862V	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	862					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CTGCAGGTTTGCTGACTGCGA	0.582																																																	0													58.0	59.0	59.0					15																	68612554		2072	4206	6278	SO:0001583	missense	0			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2585C>T	15.37:g.68612554G>A	ENSP00000327290:p.Ala862Val		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.A862V	ENST00000315757.7	37	c.2585	CCDS45291.1	15	.	.	.	.	.	.	.	.	.	.	G	13.39	2.221755	0.39300	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	T;T	0.49139	0.79;0.79	5.41	3.41	0.39046	Integrin alpha-2 (1);	0.848433	0.10561	N	0.660238	T	0.27933	0.0688	N	0.08118	0	0.09310	N	1	B;B	0.22080	0.04;0.064	B;B	0.29440	0.102;0.049	T	0.24764	-1.0151	10	0.30854	T	0.27	.	6.5607	0.22485	0.0:0.2573:0.4687:0.274	.	862;862	A8K8T0;Q9UKX5	.;ITA11_HUMAN	V	862;862;497	ENSP00000327290:A862V;ENSP00000403392:A862V	ENSP00000327290:A862V	A	-	2	0	ITGA11	66399608	0.008000	0.16893	0.371000	0.25978	0.891000	0.51852	1.691000	0.37721	1.219000	0.43474	0.561000	0.74099	GCA	ITGA11	-	pfam_Integrin_alpha-2	ENSG00000137809		0.582	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA11	HGNC	protein_coding		-	0.00	32	0	G	NM_012211		68612554	-1	tier1	-	no_errors	ENST00000315757	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.167	A
KCNA4	3739	genome.wustl.edu	37	11	30033503	30033503	+	Silent	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:30033503C>A	ENST00000328224.6	-	2	1956	c.723G>T	c.(721-723)ctG>ctT	p.L241L	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	241					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.L241L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CTGGCCTCTTCAGGCGGCCTC	0.498																																																	1	Substitution - coding silent(1)	urinary_tract(1)											96.0	87.0	89.0					11																	30033503		1868	4125	5993	SO:0001819	synonymous_variant	0			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.723G>T	11.37:g.30033503C>A				Silent	SNP	pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.L241	ENST00000328224.6	37	c.723	CCDS41629.1	11																																																																																			KCNA4	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000182255		0.498	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	HGNC	protein_coding	OTTHUMT00000388074.2		0.00	28	0	C	NM_002233		30033503	-1			no_errors	ENST00000328224	ensembl	human	known	74_37	silent	5.26	36	2	SNP	1.000	A
KDELR2	11014	genome.wustl.edu	37	7	6523688	6523689	+	Start_Codon_Ins	INS	-	-	GGC			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:6523688_6523689insGGC	ENST00000258739.4	-	0	184_185				KDELR2_ENST00000463747.1_5'UTR|DAGLB_ENST00000436575.1_5'UTR|KDELR2_ENST00000490996.1_Start_Codon_Ins|FLJ20306_ENST00000601673.1_In_Frame_Ins_p.22_23insA	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2						intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	KDEL sequence binding (GO:0005046)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AAAATGTTCATggcggcggcgg	0.723																																																	0									,	93,3937		6,81,1928					,	3.9	1.0			10	3,7859		0,3,3928	no	coding,coding	KDELR2	NM_006854.3,NM_001100603.1	,	6,84,5856	A1A1,A1R,RR		0.0382,2.3077,0.8073	,	,		96,11796				SO:0001582	initiator_codon_variant	0			X63745	CCDS5351.1, CCDS43550.1	7p	2008-05-02			ENSG00000136240	ENSG00000136240			6305	protein-coding gene	gene with protein product		609024				1316805, 1325562	Standard	NM_006854		Approved	ELP-1, ERD2.2	uc003sqe.4	P33947	OTTHUMG00000023103	ENST00000258739.4:c.-1_1dupGCC	7.37:g.6523695_6523697dupGGC			A4D2P4|Q6IPC5|Q96E30	In_Frame_Ins	INS	pfam_ER_ret_rcpt,prints_ER_ret_rcpt	p.0in_frame_insA	ENST00000258739.4	37	c.1_2	CCDS5351.1	7																																																																																			KDELR2	-	NULL	ENSG00000136240		0.723	KDELR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELR2	HGNC	protein_coding	OTTHUMT00000059424.2		0.00	13	0	-			6523689	-1	tier1		no_errors	ENST00000258739	ensembl	human	known	74_37	in_frame_ins	33.33	12	6	INS	1.000:1.000	GGC
KIAA1109	84162	genome.wustl.edu	37	4	123145797	123145797	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr4:123145797G>T	ENST00000264501.4	+	23	3131	c.2758G>T	c.(2758-2760)Gct>Tct	p.A920S	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.A920S|KIAA1109_ENST00000388738.3_Missense_Mutation_p.A920S			Q2LD37	K1109_HUMAN	KIAA1109	920					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGATGTGCAGGCTGGAAGTCT	0.448																																																	0													119.0	121.0	120.0					4																	123145797		1960	4149	6109	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2758G>T	4.37:g.123145797G>T	ENSP00000264501:p.Ala920Ser		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.A920S	ENST00000264501.4	37	c.2758	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.964016|3.964016	0.74131|0.74131	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637;ENST00000449251|ENST00000424425	T;T;T;T|.	0.50277|.	0.75;0.75;0.75;0.75|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.000000|.	0.43416|.	U|.	0.000562|.	T|T	0.71384|0.71384	0.3333|0.3333	L|L	0.53249|0.53249	1.67|1.67	0.52501|0.52501	D|D	0.999956|0.999956	D;D|.	0.76494|.	0.999;0.99|.	D;P|.	0.74348|.	0.983;0.76|.	T|T	0.68131|0.68131	-0.5490|-0.5490	10|5	0.56958|.	D|.	0.05|.	.|.	19.1724|19.1724	0.93583|0.93583	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	920;920|.	Q2LD37-5;Q2LD37|.	.;K1109_HUMAN|.	S|V	920;920;920;128|751	ENSP00000264501:A920S;ENSP00000373390:A920S;ENSP00000389925:A920S;ENSP00000413018:A128S|.	ENSP00000264501:A920S|.	A|G	+|+	1|2	0|0	KIAA1109|KIAA1109	123365247|123365247	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.526000|5.526000	0.67116|0.67116	2.613000|2.613000	0.88420|0.88420	0.591000|0.591000	0.81541|0.81541	GCT|GGC	KIAA1109	-	NULL	ENSG00000138688		0.448	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	-	0.00	47	0	G	NM_020797		123145797	+1	tier1	-	no_errors	ENST00000264501	ensembl	human	known	74_37	missense	71.43	12	30	SNP	1.000	T
KIAA1841	84542	genome.wustl.edu	37	2	61345214	61345214	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:61345214G>T	ENST00000402291.1	+	20	2232	c.1991G>T	c.(1990-1992)gGg>gTg	p.G664V	KIAA1841_ENST00000295031.5_Missense_Mutation_p.G664V|KIAA1841_ENST00000453873.1_Missense_Mutation_p.G664V|KIAA1841_ENST00000356719.2_Missense_Mutation_p.G664V	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	664										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			ATGAGATTGGGGGATCTGGAC	0.348																																																	0													79.0	84.0	82.0					2																	61345214		2203	4300	6503	SO:0001583	missense	0			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1991G>T	2.37:g.61345214G>T	ENSP00000385579:p.Gly664Val		Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like	p.G664V	ENST00000402291.1	37	c.1991	CCDS46296.1	2	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968684	0.92855	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.65739	0.2720	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.65944	-0.6045	10	0.66056	D	0.02	-25.4233	19.6504	0.95798	0.0:0.0:1.0:0.0	.	664;664	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	V	664	ENSP00000385579:G664V;ENSP00000295031:G664V;ENSP00000349154:G664V;ENSP00000416795:G664V	ENSP00000295031:G664V	G	+	2	0	KIAA1841	61198718	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.048000	0.89442	2.733000	0.93635	0.655000	0.94253	GGG	KIAA1841	-	NULL	ENSG00000162929		0.348	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA1841	HGNC	protein_coding	OTTHUMT00000325477.1	-	0.00	93	0	G	NM_032506		61345214	+1	tier1	-	no_errors	ENST00000356719	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T
KLK14	43847	genome.wustl.edu	37	19	51585853	51585853	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:51585853C>T	ENST00000156499.2	-	3	285	c.67G>A	c.(67-69)Gca>Aca	p.A23T	KLK14_ENST00000391802.1_Missense_Mutation_p.A23T			Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	23					epidermis morphogenesis (GO:0048730)|fertilization (GO:0009566)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|proteolysis (GO:0006508)|seminal clot liquefaction (GO:0070684)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		ACTTGAAGTGCTGTCAGCAGG	0.547																																					GBM(117;2161 2172 2448 22911)												0													93.0	94.0	93.0					19																	51585853		1918	4124	6042	SO:0001583	missense	0			AF283670	CCDS12823.2	19q13.3-q13.4	2008-02-05	2006-10-27		ENSG00000129437	ENSG00000129437		"""Kallikreins"""	6362	protein-coding gene	gene with protein product		606135	"""kallikrein 14"""			16800724, 16800723	Standard	XM_006723224		Approved	KLK-L6	uc002pvs.1	Q9P0G3	OTTHUMG00000143721	ENST00000156499.2:c.67G>A	19.37:g.51585853C>T	ENSP00000156499:p.Ala23Thr		A7UNK5|Q1RMZ2|Q6B089	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A23T	ENST00000156499.2	37	c.67	CCDS12823.2	19	.	.	.	.	.	.	.	.	.	.	.	10.05	1.243732	0.22796	.	.	ENSG00000129437	ENST00000156499;ENST00000391802	D;D	0.93307	-3.2;-3.2	4.88	1.39	0.22231	.	.	.	.	.	T	0.81442	0.4823	N	0.08118	0	0.09310	N	1	B	0.31227	0.314	B	0.25405	0.06	T	0.72991	-0.4123	9	0.44086	T	0.13	.	3.5129	0.07714	0.1991:0.5887:0.0:0.2122	.	23	Q9P0G3	KLK14_HUMAN	T	23	ENSP00000156499:A23T;ENSP00000375678:A23T	ENSP00000156499:A23T	A	-	1	0	KLK14	56277665	0.000000	0.05858	0.002000	0.10522	0.243000	0.25628	-0.621000	0.05559	0.758000	0.33059	0.552000	0.68991	GCA	KLK14	-	NULL	ENSG00000129437		0.547	KLK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK14	HGNC	protein_coding	OTTHUMT00000289774.2		0.00	38	0	C	NM_022046		51585853	-1			no_errors	ENST00000156499	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.002	T
KMT2C	58508	genome.wustl.edu	37	7	151878416	151878416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:151878416G>A	ENST00000262189.6	-	36	6747	c.6529C>T	c.(6529-6531)Cag>Tag	p.Q2177*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q2177*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2177	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GTTTGGGGCTGCTGACTATAT	0.473																																																	0													124.0	124.0	124.0					7																	151878416		2203	4300	6503	SO:0001587	stop_gained	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6529C>T	7.37:g.151878416G>A	ENSP00000262189:p.Gln2177*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q2177*	ENST00000262189.6	37	c.6529	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	48	14.459273	0.99796	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.51	5.51	0.81932	.	0.000000	0.43919	D	0.000501	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.4315	0.94772	0.0:0.0:1.0:0.0	.	.	.	.	X	2177	.	ENSP00000262189:Q2177X	Q	-	1	0	MLL3	151509349	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.175000	0.71949	2.600000	0.87896	0.655000	0.94253	CAG	KMT2C	-	NULL	ENSG00000055609		0.473	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3	-	0.00	32	0	G			151878416	-1	tier1	-	no_errors	ENST00000355193	ensembl	human	known	74_37	nonsense	8.33	44	4	SNP	1.000	A
KMT2D	8085	genome.wustl.edu	37	12	49432409	49432412	+	Frame_Shift_Del	DEL	ACTT	ACTT	-	rs370382626		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	ACTT	ACTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr12:49432409_49432412delACTT	ENST00000301067.7	-	34	8726_8729	c.8727_8730delAAGT	c.(8725-8730)gtaagtfs	p.VS2909fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2909	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S2910fs*32(2)|p.S2640fs*32(2)									GGGGGTCCTCACTTACAGGGTAAA	0.603																																																	4	Deletion - Frameshift(4)	haematopoietic_and_lymphoid_tissue(4)																																								SO:0001589	frameshift_variant	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8727_8730delAAGT	12.37:g.49432409_49432412delACTT	ENSP00000301067:p.Val2909fs		O14687	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S2910fs	ENST00000301067.7	37	c.8730_8727	CCDS44873.1	12																																																																																			KMT2D	-	NULL	ENSG00000167548		0.603	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2		0.00	35	0	ACTT			49432412	-1	tier1		no_errors	ENST00000301067	ensembl	human	known	74_37	frame_shift_del	22.73	17	5	DEL	0.984:0.964:0.993:0.989	-
KPTN	11133	genome.wustl.edu	37	19	47986768	47986768	+	Silent	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:47986768C>T	ENST00000338134.3	-	2	407	c.300G>A	c.(298-300)acG>acA	p.T100T	NAPA-AS1_ENST00000593284.1_RNA|KPTN_ENST00000595484.1_5'UTR|NAPA-AS1_ENST00000594367.1_RNA|KPTN_ENST00000536339.1_5'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	100					actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		CCTTGATGAACGTGATCCCCA	0.587											OREG0025593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													33.0	38.0	36.0					19																	47986768		1984	4147	6131	SO:0001819	synonymous_variant	0			AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"""kaptin (actin-binding protein)"""			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.300G>A	19.37:g.47986768C>T		951	B3KN86|B4DQ76|Q96GT1	Silent	SNP	NULL	p.T100	ENST00000338134.3	37	c.300	CCDS42583.1	19																																																																																			KPTN	-	NULL	ENSG00000118162		0.587	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPTN	HGNC	protein_coding	OTTHUMT00000466672.2	-	0.00	64	0	C			47986768	-1	tier1	-	no_errors	ENST00000338134	ensembl	human	known	74_37	silent	24.00	38	12	SNP	0.690	T
LAMA1	284217	genome.wustl.edu	37	18	7050775	7050775	+	Missense_Mutation	SNP	C	C	T	rs377017068		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr18:7050775C>T	ENST00000389658.3	-	4	599	c.506G>A	c.(505-507)cGa>cAa	p.R169Q		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	169	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GGGTGGCCCTCGTCTTGGAGT	0.512																																																	0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	127.0	104.0	112.0		506	4.0	1.0	18		112	1,8599	1.2+/-3.3	0,1,4299	no	missense	LAMA1	NM_005559.3	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	169/3076	7050775	2,13004	2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.506G>A	18.37:g.7050775C>T	ENSP00000374309:p.Arg169Gln			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R169Q	ENST00000389658.3	37	c.506	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252359	0.80135	2.27E-4	1.16E-4	ENSG00000101680	ENST00000389658	T	0.76316	-1.01	5.96	4.02	0.46733	Laminin, N-terminal (3);	0.366981	0.24681	N	0.036476	T	0.65481	0.2695	N	0.25485	0.75	0.25731	N	0.985264	D	0.61697	0.99	P	0.48304	0.573	T	0.55477	-0.8135	10	0.13853	T	0.58	.	6.988	0.24739	0.3661:0.5447:0.0:0.0892	.	169	P25391	LAMA1_HUMAN	Q	169	ENSP00000374309:R169Q	ENSP00000374309:R169Q	R	-	2	0	LAMA1	7040775	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.693000	0.47027	1.526000	0.49068	0.655000	0.94253	CGA	LAMA1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000101680		0.512	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0.00	60	0	C	NM_005559		7050775	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	35.85	34	19	SNP	0.967	T
LAMP3	27074	genome.wustl.edu	37	3	182871574	182871574	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:182871574G>A	ENST00000265598.3	-	2	910	c.655C>T	c.(655-657)Cag>Tag	p.Q219*	LAMP3_ENST00000466939.1_Nonsense_Mutation_p.Q195*	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	219					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GACGATGGCTGAGGTGCAAGG	0.537																																																	0													101.0	97.0	99.0					3																	182871574		2203	4300	6503	SO:0001587	stop_gained	0			AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.655C>T	3.37:g.182871574G>A	ENSP00000265598:p.Gln219*		D3DNS4|O94781|Q8NEC8	Nonsense_Mutation	SNP	pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop	p.Q219*	ENST00000265598.3	37	c.655	CCDS3242.1	3	.	.	.	.	.	.	.	.	.	.	g	22.9	4.352791	0.82132	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	.	.	.	5.81	2.93	0.34026	.	0.908510	0.09416	N	0.805093	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	0.0298	6.1002	0.20043	0.0881:0.0:0.5775:0.3344	.	.	.	.	X	219;195	.	ENSP00000265598:Q219X	Q	-	1	0	LAMP3	184354268	0.001000	0.12720	0.012000	0.15200	0.018000	0.09664	-0.043000	0.12043	0.311000	0.23014	-0.182000	0.12963	CAG	LAMP3	-	pfam_Lysosome-assoc_membr_glycop	ENSG00000078081		0.537	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMP3	HGNC	protein_coding	OTTHUMT00000350863.1	-	0.00	33	0	G			182871574	-1	tier1	-	no_errors	ENST00000265598	ensembl	human	known	74_37	nonsense	29.73	52	22	SNP	0.032	A
LATS1	9113	genome.wustl.edu	37	6	149997781	149997781	+	Silent	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr6:149997781G>T	ENST00000543571.1	-	6	3233	c.2686C>A	c.(2686-2688)Cgg>Agg	p.R896R	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Silent_p.R896R	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GCAGCTCTCCGCTCTAATGGC	0.502																																																	0													72.0	67.0	69.0					6																	149997781		2203	4300	6503	SO:0001819	synonymous_variant	0			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2686C>A	6.37:g.149997781G>T				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.R896	ENST00000543571.1	37	c.2686	CCDS34551.1	6																																																																																			LATS1	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000131023		0.502	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	-	0.00	39	0	G	NM_004690		149997781	-1	tier1	-	no_errors	ENST00000253339	ensembl	human	known	74_37	silent	10.00	36	4	SNP	1.000	T
LFNG	3955	genome.wustl.edu	37	7	2565060	2565060	+	Missense_Mutation	SNP	C	C	A	rs571692564		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:2565060C>A	ENST00000222725.5	+	4	614	c.594C>A	c.(592-594)caC>caA	p.H198Q	MIR4648_ENST00000580107.1_RNA|LFNG_ENST00000402045.1_Missense_Mutation_p.H69Q|LFNG_ENST00000338732.3_Missense_Mutation_p.H69Q|LFNG_ENST00000402506.1_Missense_Mutation_p.H127Q|LFNG_ENST00000359574.3_Missense_Mutation_p.H198Q	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	198					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		GGTTCTGCCACGTGGACGATG	0.711																																																	0													39.0	41.0	40.0					7																	2565060		2202	4299	6501	SO:0001583	missense	0			BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"""Beta 3-glycosyltransferases"""	6560	protein-coding gene	gene with protein product		602576	"""lunatic fringe (Drosophila) homolog"", ""lunatic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.594C>A	7.37:g.2565060C>A	ENSP00000222725:p.His198Gln		B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Missense_Mutation	SNP	pfam_Fringe-like,pirsf_Fringe	p.H198Q	ENST00000222725.5	37	c.594	CCDS34587.1	7	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508460	0.64410	.	.	ENSG00000106003	ENST00000402506;ENST00000402045;ENST00000338732;ENST00000222725;ENST00000359574	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	5.32	-6.66	0.01789	.	0.000000	0.85682	D	0.000000	T	0.79143	0.4396	M	0.92833	3.35	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.987;0.999	T	0.82908	-0.0224	10	0.41790	T	0.15	-28.1863	15.8269	0.78718	0.0:0.222:0.0:0.778	.	198;198	Q8NES3-3;Q8NES3	.;LFNG_HUMAN	Q	127;69;69;198;198	ENSP00000385764:H127Q;ENSP00000384786:H69Q;ENSP00000343095:H69Q;ENSP00000222725:H198Q;ENSP00000352579:H198Q	ENSP00000222725:H198Q	H	+	3	2	LFNG	2531586	0.001000	0.12720	0.891000	0.34965	0.765000	0.43378	-1.652000	0.01988	-1.245000	0.02513	-0.367000	0.07326	CAC	LFNG	-	pfam_Fringe-like,pirsf_Fringe	ENSG00000106003		0.711	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LFNG	HGNC	protein_coding	OTTHUMT00000325021.1	-	0.00	89	0	C	NM_002304		2565060	+1	tier1	-	no_errors	ENST00000222725	ensembl	human	known	74_37	missense	36.11	46	26	SNP	0.775	A
LHCGR	3973	genome.wustl.edu	37	2	48921377	48921377	+	Silent	SNP	C	C	G			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:48921377C>G	ENST00000294954.7	-	10	954	c.933G>C	c.(931-933)gtG>gtC	p.V311V	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_Silent_p.V311V|LHCGR_ENST00000405626.1_Intron|LHCGR_ENST00000401907.1_Silent_p.V311V|LHCGR_ENST00000344775.3_Silent_p.V249V	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	311				Missing (in Ref. 3; AAA70231). {ECO:0000305}.	activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TTTTGTTATTCACTTTCCTTA	0.328																																																	0													135.0	100.0	112.0					2																	48921377		2200	4295	6495	SO:0001819	synonymous_variant	0				CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.933G>C	2.37:g.48921377C>G			Q14751|Q15996|Q9UEW9	Silent	SNP	pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.V311	ENST00000294954.7	37	c.933	CCDS1842.1	2																																																																																			LHCGR	-	NULL	ENSG00000138039		0.328	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	HGNC	protein_coding	OTTHUMT00000251364.4	-	0.00	50	0	C	NM_000233.3		48921377	-1	tier1	-	no_errors	ENST00000294954	ensembl	human	known	74_37	silent	24.68	57	19	SNP	0.080	G
LHFPL3	375612	genome.wustl.edu	37	7	103969248	103969248	+	Silent	SNP	T	T	C			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:103969248T>C	ENST00000535008.1	+	1	145	c.21T>C	c.(19-21)gcT>gcC	p.A7A	LHFPL3_ENST00000424859.1_5'UTR|LHFPL3_ENST00000401970.2_5'UTR|LHFPL3_ENST00000543266.1_Silent_p.A7A			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	7						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						ccgccgccgctgccgccgccg	0.721																																																	0													10.0	14.0	13.0					7																	103969248		1941	4076	6017	SO:0001819	synonymous_variant	0			AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000535008.1:c.21T>C	7.37:g.103969248T>C			A1L383|A4D0Q5	Silent	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.A7	ENST00000535008.1	37	c.21		7																																																																																			LHFPL3	-	NULL	ENSG00000187416		0.721	LHFPL3-201	KNOWN	basic	protein_coding	LHFPL3	HGNC	protein_coding			0.00	23	0	T	NM_199000		103969248	+1			no_errors	ENST00000535008	ensembl	human	known	74_37	silent	16.67	25	5	SNP	0.988	C
LHFPL3	375612	genome.wustl.edu	37	7	103969248	103969249	+	In_Frame_Ins	INS	-	-	GCC			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:103969248_103969249insGCC	ENST00000535008.1	+	1	145_146	c.21_22insGCC	c.(22-24)gcc>GCCgcc	p.8_8A>AA	LHFPL3_ENST00000424859.1_5'UTR|LHFPL3_ENST00000401970.2_5'UTR|LHFPL3_ENST00000543266.1_In_Frame_Ins_p.8_8A>AA			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	8						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						ccgccgccgctgccgccgccgc	0.723																																																	0																																										SO:0001652	inframe_insertion	0			AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000535008.1:c.37_39dupGCC	7.37:g.103969255_103969257dupGCC	ENSP00000444350:p.Ala14dup		A1L383|A4D0Q5	In_Frame_Ins	INS	pfam_Lipome_HGMIC_fus_partner-like	p.11in_frame_insA	ENST00000535008.1	37	c.21_22		7																																																																																			LHFPL3	-	NULL	ENSG00000187416		0.723	LHFPL3-201	KNOWN	basic	protein_coding	LHFPL3	HGNC	protein_coding			0.00	23	0	-	NM_199000		103969249	+1	tier1		no_errors	ENST00000535008	ensembl	human	known	74_37	in_frame_ins	30.00	21	9	INS	0.988:1.000	GCC
LINC00094	266655	genome.wustl.edu	37	9	136892007	136892007	+	RNA	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr9:136892007C>A	ENST00000603928.1	+	0	479				LINC00094_ENST00000550853.1_RNA|LINC00094_ENST00000599836.1_RNA|LINC00094_ENST00000432807.1_RNA|LINC00094_ENST00000430633.1_RNA|LINC00094_ENST00000552018.1_RNA|LINC00094_ENST00000605164.1_RNA	NR_015427.2				long intergenic non-protein coding RNA 94																		CGTACCTGAGCAGGAGCCGAA	0.572																																																	0																																												0			AK092667		9q34	2012-10-12	2011-08-11	2011-08-11	ENSG00000235106	ENSG00000235106		"""Long non-coding RNAs"""	24742	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 94"""	NCRNA00094		12477932	Standard	NR_015427		Approved	FLJ35348, bA374P20.3	uc004ceu.3		OTTHUMG00000020880		9.37:g.136892007C>A				RNA	SNP	-	NULL	ENST00000603928.1	37	NULL		9																																																																																			LINC00094	-	-	ENSG00000235106		0.572	LINC00094-005	KNOWN	basic	antisense	LINC00094	HGNC	antisense	OTTHUMT00000470013.1	-	0.00	48	0	C			136892007	+1	tier1	-	no_errors	ENST00000430633	ensembl	human	known	74_37	rna	7.55	49	4	SNP	1.000	A
LINC00937	389634	genome.wustl.edu	37	12	8509659	8509659	+	lincRNA	SNP	A	A	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr12:8509659A>T	ENST00000544461.1	-	0	1081				RP11-113C12.4_ENST00000537764.1_RNA					long intergenic non-protein coding RNA 937																		CCATTTGTGGAGTCTCTTGCG	0.373																																																	0																																												0			BC073935		12p13.31	2013-05-30			ENSG00000226091	ENSG00000226091		"""Long non-coding RNAs"""	48629	non-coding RNA	RNA, long non-coding							Standard	NR_024420		Approved				OTTHUMG00000168663		12.37:g.8509659A>T				RNA	SNP	-	NULL	ENST00000544461.1	37	NULL		12																																																																																			LINC00937	-	-	ENSG00000226091		0.373	LINC00937-001	KNOWN	basic	lincRNA	LINC00937	HGNC	lincRNA	OTTHUMT00000400511.1	-	0.00	37	0	A			8509659	-1	tier1	-	no_errors	ENST00000420040	ensembl	human	known	74_37	rna	35.00	52	28	SNP	0.045	T
MAZ	4150	genome.wustl.edu	37	16	29821984	29821984	+	3'UTR	DEL	T	T	-	rs71650270		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr16:29821984delT	ENST00000322945.6	+	0	2031				AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000568544.1_3'UTR|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000566906.2_3'UTR|MAZ_ENST00000563402.1_3'UTR|AC009133.15_ENST00000566537.1_RNA|PRRT2_ENST00000567659.1_5'Flank|MAZ_ENST00000562337.1_3'UTR|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000545521.1_3'UTR|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000219782.6_3'UTR|PRRT2_ENST00000300797.6_5'Flank|PRRT2_ENST00000358758.7_5'Flank	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTCTTTTCCTTTTTTTTTTT	0.577																																					Colon(72;875 1167 15364 30899 37091)												0																																										SO:0001624	3_prime_UTR_variant	0			M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.*432T>-	16.37:g.29821984delT			A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	RNA	DEL	-	NULL	ENST00000322945.6	37	NULL	CCDS42143.1	16																																																																																			AC009133.14	-	-	ENSG00000238045		0.577	MAZ-001	KNOWN	basic|CCDS	protein_coding	LOC100289283	Clone_based_vega_gene	protein_coding	OTTHUMT00000435536.1		0.00	10	0	T	NM_002383		29821984	-1	tier1		no_errors	ENST00000569981	ensembl	human	known	74_37	rna	9.09	30	3	DEL	0.000	-
LOC729218	729218	genome.wustl.edu	37	4	119554790	119554790	+	lincRNA	SNP	T	T	C			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr4:119554790T>C	ENST00000567913.2	+	0	4301																											TCCGGCCTCTTGGCGGCCTCT	0.682																																																	0																																												0																															4.37:g.119554790T>C				RNA	SNP	-	NULL	ENST00000567913.2	37	NULL		4																																																																																			RP11-384K6.6	-	-	ENSG00000260404		0.682	RP11-384K6.6-001	KNOWN	basic	lincRNA	LOC101929676	Clone_based_vega_gene	lincRNA	OTTHUMT00000364170.2		0.00	48	0	T			119554790	+1			no_errors	ENST00000567913	ensembl	human	known	74_37	rna	6.67	42	3	SNP	0.759	C
MYT1L	23040	genome.wustl.edu	37	2	2328522	2328522	+	Intron	SNP	A	A	G			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:2328522A>G	ENST00000399161.2	-	1	228				MYT1L_ENST00000428368.2_Intron|AC009232.2_ENST00000448106.1_lincRNA	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like						cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AGAGCCTCGGAAGCATCCTGC	0.582																																																	0																																										SO:0001627	intron_variant	0			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.520+6216T>C	2.37:g.2328522A>G			A7E2C7|B2RP54|Q6IQ17|Q9UPP6	RNA	SNP	-	NULL	ENST00000399161.2	37	NULL		2																																																																																			AC009232.2	-	-	ENSG00000225619		0.582	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	LOC730811	Clone_based_vega_gene	protein_coding	OTTHUMT00000322493.1	-	0.00	33	0	A	NM_015025		2328522	+1	tier1	-	no_errors	ENST00000422175	ensembl	human	known	74_37	rna	32.43	25	12	SNP	0.000	G
LRFN5	145581	genome.wustl.edu	37	14	42357161	42357161	+	Missense_Mutation	SNP	C	C	T	rs548468008		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr14:42357161C>T	ENST00000298119.4	+	3	2522	c.1333C>T	c.(1333-1335)Cgt>Tgt	p.R445C	LRFN5_ENST00000554120.1_Missense_Mutation_p.R445C|LRFN5_ENST00000554171.1_Missense_Mutation_p.R445C	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	445	Fibronectin type-III.					integral component of membrane (GO:0016021)		p.R445C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CCCTGGAATACGTATGTTTCA	0.333										HNSCC(30;0.082)																																							1	Substitution - Missense(1)	ovary(1)											40.0	40.0	40.0					14																	42357161		2203	4299	6502	SO:0001583	missense	0			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1333C>T	14.37:g.42357161C>T	ENSP00000298119:p.Arg445Cys		B3KU78|Q86XL2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R445C	ENST00000298119.4	37	c.1333	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690969	0.48097	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.69561	-0.41;0.55;0.54	5.4	5.4	0.78164	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000021	T	0.79805	0.4509	M	0.70595	2.14	0.80722	D	1	D;P	0.69078	0.997;0.8	D;B	0.63033	0.91;0.188	T	0.81382	-0.0958	10	0.66056	D	0.02	.	17.0338	0.86468	0.0:1.0:0.0:0.0	.	445;445	G3V364;Q96NI6	.;LRFN5_HUMAN	C	445	ENSP00000298119:R445C;ENSP00000451897:R445C;ENSP00000451067:R445C	ENSP00000298119:R445C	R	+	1	0	LRFN5	41426911	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.965000	0.56788	2.680000	0.91292	0.563000	0.77884	CGT	LRFN5	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000165379		0.333	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1	-	0.00	56	0	C	NM_152447		42357161	+1	tier1	-	no_errors	ENST00000298119	ensembl	human	known	74_37	missense	71.43	10	25	SNP	1.000	T
LRRC37A11P	342666	genome.wustl.edu	37	17	37186474	37186474	+	RNA	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr17:37186474C>A	ENST00000425901.2	+	0	316					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		CCACAGACCCCTGAGGAGGCT	0.547																																																	0																																												0					17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37186474C>A				RNA	SNP	-	NULL	ENST00000425901.2	37	NULL		17																																																																																			LRRC37A11P	-	-	ENSG00000214553		0.547	LRRC37A11P-002	KNOWN	basic	processed_transcript	LRRC37A11P	HGNC	pseudogene	OTTHUMT00000444105.1	-	0.00	49	0	C	NR_033753		37186474	+1	tier1	-	no_errors	ENST00000425901	ensembl	human	known	74_37	rna	5.32	89	5	SNP	0.016	A
LRRC37A2	474170	genome.wustl.edu	37	17	44626126	44626126	+	Silent	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr17:44626126G>A	ENST00000576629.1	+	10	4116	c.3621G>A	c.(3619-3621)ggG>ggA	p.G1207G	ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000573185.1_Intron|LRRC37A2_ENST00000333412.3_Silent_p.G1207G|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1207						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		AAAGGCTCGGGAGTCCAGCCC	0.582																																																	0													47.0	87.0	74.0					17																	44626126		2183	4300	6483	SO:0001819	synonymous_variant	0			AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.3621G>A	17.37:g.44626126G>A			B7ZMC3	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.G1207	ENST00000576629.1	37	c.3621	CCDS42353.1	17																																																																																			LRRC37A2	-	NULL	ENSG00000238083		0.582	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A2	HGNC	protein_coding	OTTHUMT00000440299.2	-	0.00	127	0	G	NM_001006607		44626126	+1	tier1	-	no_errors	ENST00000333412	ensembl	human	known	74_37	silent	20.43	148	38	SNP	0.050	A
LTBP1	4052	genome.wustl.edu	37	2	33411983	33411983	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:33411983G>T	ENST00000404816.2	+	6	1615	c.1262G>T	c.(1261-1263)tGc>tTc	p.C421F	LTBP1_ENST00000404525.1_Missense_Mutation_p.C95F|LTBP1_ENST00000390003.4_Missense_Mutation_p.C95F|LTBP1_ENST00000354476.3_Missense_Mutation_p.C421F|LTBP1_ENST00000402934.1_Missense_Mutation_p.C95F|LTBP1_ENST00000407925.1_Missense_Mutation_p.C95F|LTBP1_ENST00000418533.2_Missense_Mutation_p.C95F			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	421	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAATGTCAGTGCCCTCCAAAT	0.473																																																	0													116.0	109.0	111.0					2																	33411983		2203	4300	6503	SO:0001583	missense	0				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1262G>T	2.37:g.33411983G>T	ENSP00000386043:p.Cys421Phe		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.C421F	ENST00000404816.2	37	c.1262	CCDS33177.2	2	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651962	0.88056	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000432635;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.99837	-7.06;-7.06;-7.06;-7.06;-7.06;-7.06;-7.06	5.3	5.3	0.74995	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99757	0.9902	M	0.68952	2.095	0.80722	D	1	D;P;D;D;D;D	0.76494	0.992;0.947;0.999;0.969;0.985;0.995	P;P;D;P;P;D	0.72982	0.894;0.663;0.979;0.822;0.865;0.951	D	0.97273	0.9912	9	0.87932	D	0	.	18.9638	0.92687	0.0:0.0:1.0:0.0	.	421;95;95;95;95;421	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	F	421;421;110;95;95;95;95;95	ENSP00000386043:C421F;ENSP00000346467:C421F;ENSP00000374653:C95F;ENSP00000393057:C95F;ENSP00000384373:C95F;ENSP00000385359:C95F;ENSP00000384091:C95F	ENSP00000346467:C421F	C	+	2	0	LTBP1	33265487	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.092000	0.94157	2.468000	0.83385	0.655000	0.94253	TGC	LTBP1	-	smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000049323		0.473	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2	-	0.00	64	0	G	NM_206943		33411983	+1	tier1	-	no_errors	ENST00000354476	ensembl	human	known	74_37	missense	6.85	68	5	SNP	1.000	T
MAGEA8	4107	genome.wustl.edu	37	X	149013037	149013037	+	5'UTR	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chrX:149013037C>A	ENST00000542674.1	+	0	512				MAGEA8_ENST00000493910.1_3'UTR|MAGEA8_ENST00000286482.1_5'UTR|MAGEA8_ENST00000535454.1_5'UTR	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8											NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCCCTGACCTGAGTCATCA	0.597																																																	0													27.0	22.0	24.0					X																	149013037		2203	4297	6500	SO:0001623	5_prime_UTR_variant	0				CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"""MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"""	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.-10C>A	X.37:g.149013037C>A			Q9BUN9	RNA	SNP	-	NULL	ENST00000542674.1	37	NULL	CCDS14692.1	X																																																																																			MAGEA8	-	-	ENSG00000156009		0.597	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA8	HGNC	protein_coding	OTTHUMT00000058728.1	-	0.00	98	0	C	NM_005364		149013037	+1	tier1	-	no_errors	ENST00000345830	ensembl	human	known	74_37	rna	20.16	99	25	SNP	0.001	A
MAGEA6	4105	genome.wustl.edu	37	X	151870172	151870172	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chrX:151870172C>A	ENST00000329342.5	+	3	1087	c.862C>A	c.(862-864)Cac>Aac	p.H288N		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	288	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GAAAGTCCTGCACCATATGGT	0.552																																																	0													161.0	153.0	156.0					X																	151870172		2202	4299	6501	SO:0001583	missense	0				CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.862C>A	X.37:g.151870172C>A	ENSP00000329199:p.His288Asn		A8IF93|Q6NW44	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.H288N	ENST00000329342.5	37	c.862	CCDS14708.1	X	.	.	.	.	.	.	.	.	.	.	c	0.405	-0.916511	0.02415	.	.	ENSG00000197172	ENST00000329342	T	0.01527	4.8	0.879	-1.76	0.08006	.	.	.	.	.	T	0.01029	0.0034	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48502	-0.9030	9	0.54805	T	0.06	.	0.3417	0.00335	0.2174:0.2405:0.3062:0.2359	.	288	P43360	MAGA6_HUMAN	N	288	ENSP00000329199:H288N	ENSP00000329199:H288N	H	+	1	0	MAGEA6	151620828	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-0.738000	0.04871	-2.208000	0.00740	-1.111000	0.02071	CAC	MAGEA6	-	pfscan_MAGE	ENSG00000197172		0.552	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA6	HGNC	protein_coding	OTTHUMT00000058747.2	-	0.00	163	0	C	NM_005363		151870172	+1	tier1	-	no_errors	ENST00000329342	ensembl	human	known	74_37	missense	25.98	93	33	SNP	0.000	A
MAML3	55534	genome.wustl.edu	37	4	140811069	140811069	+	Silent	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr4:140811069C>T	ENST00000509479.2	-	2	2377	c.1521G>A	c.(1519-1521)caG>caA	p.Q507Q	MAML3_ENST00000327122.5_Silent_p.Q351Q|MAML3_ENST00000398940.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgttgctgctgctgctgct	0.517																																																	0													39.0	47.0	44.0					4																	140811069		2177	4289	6466	SO:0001819	synonymous_variant	0			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1521G>A	4.37:g.140811069C>T				Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.Q507	ENST00000509479.2	37	c.1521	CCDS54805.1	4																																																																																			MAML3	-	NULL	ENSG00000196782		0.517	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	HGNC	protein_coding	OTTHUMT00000364934.2		0.00	15	0	C			140811069	-1			no_errors	ENST00000509479	ensembl	human	known	74_37	silent	9.52	38	4	SNP	1.000	T
MAP3K3	4215	genome.wustl.edu	37	17	61744308	61744308	+	Silent	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr17:61744308C>A	ENST00000361733.3	+	6	710	c.390C>A	c.(388-390)tcC>tcA	p.S130S	MAP3K3_ENST00000584573.1_Silent_p.S161S|MAP3K3_ENST00000577395.1_Silent_p.S130S|MAP3K3_ENST00000361357.3_Silent_p.S161S|MAP3K3_ENST00000579585.1_Silent_p.S161S	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	130					activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						AGAACAGTTCCTCTCCCCACT	0.532																																																	0													137.0	125.0	129.0					17																	61744308		2203	4300	6503	SO:0001819	synonymous_variant	0			U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.390C>A	17.37:g.61744308C>A			B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S161	ENST00000361733.3	37	c.483	CCDS32702.1	17																																																																																			MAP3K3	-	NULL	ENSG00000198909		0.532	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	MAP3K3	HGNC	protein_coding	OTTHUMT00000443867.1	-	0.00	67	0	C	NM_002401		61744308	+1	tier1	-	no_errors	ENST00000361357	ensembl	human	known	74_37	silent	44.33	54	43	SNP	1.000	A
MBOAT7	79143	genome.wustl.edu	37	19	54678123	54678125	+	Splice_Site	DEL	CTC	CTC	-			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:54678123_54678125delCTC	ENST00000245615.1	-	8	1512_1514	c.1032_1034delGAG	c.(1030-1035)cggagc>cgc	p.S345del	MBOAT7_ENST00000338624.6_Splice_Site_p.S272del|MBOAT7_ENST00000431666.2_Splice_Site_p.S272del|TMC4_ENST00000301187.4_5'Flank|TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000376591.4_5'Flank	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	345				S -> T (in Ref. 6; AAB37433). {ECO:0000305}.	glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGTCCAGGCGCTCCTGAGGAGGA	0.685																																					NSCLC(97;826 2151 10470 22540)												0																																										SO:0001630	splice_region_variant	0			AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.1032-1GAG>-	19.37:g.54678123_54678125delCTC			A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	In_Frame_Del	DEL	pfam_MBOAT_fam	p.S345in_frame_del	ENST00000245615.1	37	c.1034_1032	CCDS12883.1	19																																																																																			MBOAT7	-	pfam_MBOAT_fam	ENSG00000125505		0.685	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT7	HGNC	protein_coding	OTTHUMT00000142203.1		0.00	51	0	CTC	NM_024298	In_Frame_Del	54678125	-1	tier1		no_errors	ENST00000245615	ensembl	human	known	74_37	in_frame_del	27.27	56	21	DEL	1.000:1.000:1.000	-
MEP1A	4224	genome.wustl.edu	37	6	46803219	46803219	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr6:46803219C>A	ENST00000230588.4	+	13	2026	c.2017C>A	c.(2017-2019)Cca>Aca	p.P673T		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	673	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CTTCAGAGACCCATGTGACCC	0.612																																																	0													36.0	30.0	32.0					6																	46803219		2203	4300	6503	SO:0001583	missense	0				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.2017C>A	6.37:g.46803219C>A	ENSP00000230588:p.Pro673Thr		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.P673T	ENST00000230588.4	37	c.2017	CCDS4918.1	6	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262490	0.80358	.	.	ENSG00000112818	ENST00000230588	D	0.91945	-2.94	5.72	5.72	0.89469	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.147330	0.64402	D	0.000006	D	0.92779	0.7704	L	0.45228	1.405	0.58432	D	0.999997	D;D	0.89917	1.0;0.998	D;D	0.71656	0.974;0.929	D	0.89508	0.3769	10	0.19590	T	0.45	-17.1463	19.8829	0.96904	0.0:1.0:0.0:0.0	.	701;673	B7ZL91;Q16819	.;MEP1A_HUMAN	T	673	ENSP00000230588:P673T	ENSP00000230588:P673T	P	+	1	0	MEP1A	46911178	0.998000	0.40836	0.998000	0.56505	0.988000	0.76386	4.039000	0.57325	2.717000	0.92951	0.650000	0.86243	CCA	MEP1A	-	pirsf_Pept_M12A_Meprin,pfscan_EG-like_dom	ENSG00000112818		0.612	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEP1A	HGNC	protein_coding	OTTHUMT00000040803.1		0.00	64	0	C	NM_005588		46803219	+1			no_errors	ENST00000230588	ensembl	human	known	74_37	missense	6.76	69	5	SNP	1.000	A
METTL17	64745	genome.wustl.edu	37	14	21462709	21462709	+	Silent	SNP	A	A	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr14:21462709A>T	ENST00000339374.6	+	8	938	c.705A>T	c.(703-705)tcA>tcT	p.S235S	METTL17_ENST00000382985.4_Silent_p.S235S|METTL17_ENST00000556670.2_Silent_p.S235S|RP11-84C10.4_ENST00000557335.1_RNA	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	235					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CAGGTGGTTCAGAATCTGGGG	0.418																																																	0													151.0	156.0	154.0					14																	21462709		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.705A>T	14.37:g.21462709A>T			Q9BSH1|Q9BZH2|Q9BZH3	Silent	SNP	pfam_Ribosomal_Rsm22_bac-type,pfam_Methyltransf_11	p.S235	ENST00000339374.6	37	c.705	CCDS9562.1	14																																																																																			METTL17	-	pfam_Ribosomal_Rsm22_bac-type,pfam_Methyltransf_11	ENSG00000165792		0.418	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL17	HGNC	protein_coding	OTTHUMT00000073804.4	-	0.00	35	0	A	NM_022734		21462709	+1	tier1	-	no_errors	ENST00000382985	ensembl	human	known	74_37	silent	62.50	21	35	SNP	1.000	T
MIA3	375056	genome.wustl.edu	37	1	222805566	222805566	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:222805566C>T	ENST00000344922.5	+	5	3254	c.3229C>T	c.(3229-3231)Cag>Tag	p.Q1077*	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Nonsense_Mutation_p.Q1077*|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1077					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ACTTAATGTGCAGGTTCCTGA	0.483																																																	0													126.0	121.0	123.0					1																	222805566		1968	4142	6110	SO:0001587	stop_gained	0				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.3229C>T	1.37:g.222805566C>T	ENSP00000340900:p.Gln1077*		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Nonsense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.Q1077*	ENST00000344922.5	37	c.3229	CCDS41470.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.876649|6.876649	0.97904|0.97904	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000354906|ENST00000344922;ENST00000344441;ENST00000320831	.|.	.|.	.|.	3.81|3.81	2.89|2.89	0.33648|0.33648	.|.	.|.	.|.	.|.	.|.	T|.	0.46600|.	0.1401|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.54248|.	-0.8322|.	3|.	.|0.23302	.|T	.|0.38	.|.	9.4717|9.4717	0.38847|0.38847	0.0:0.7838:0.2162:0.0|0.0:0.7838:0.2162:0.0	.|.	.|.	.|.	.|.	V|X	659|1077	.|.	.|ENSP00000325973:Q1077X	A|Q	+|+	2|1	0|0	MIA3|MIA3	220872189|220872189	0.000000|0.000000	0.05858|0.05858	0.023000|0.023000	0.16930|0.16930	0.026000|0.026000	0.11368|0.11368	-0.248000|-0.248000	0.08854|0.08854	1.167000|1.167000	0.42706|0.42706	0.557000|0.557000	0.71058|0.71058	GCA|CAG	MIA3	-	NULL	ENSG00000154305		0.483	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	-	0.00	44	0	C	NM_198551		222805566	+1	tier1	-	no_errors	ENST00000344441	ensembl	human	known	74_37	nonsense	10.53	34	4	SNP	0.023	T
MICAL2	9645	genome.wustl.edu	37	11	12278428	12278428	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:12278428G>A	ENST00000256194.4	+	24	3340	c.3052G>A	c.(3052-3054)Gag>Aag	p.E1018K	MICAL2_ENST00000537344.1_Missense_Mutation_p.E828K|MICAL2_ENST00000379612.3_Missense_Mutation_p.E792K|MICAL2_ENST00000527546.1_Missense_Mutation_p.E828K|MICAL2_ENST00000342902.5_Missense_Mutation_p.E997K	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1018	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|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)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCTGAGCGCCGAGGGCCACTT	0.567																																																	0													118.0	95.0	103.0					11																	12278428		2201	4294	6495	SO:0001583	missense	0			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.3052G>A	11.37:g.12278428G>A	ENSP00000256194:p.Glu1018Lys		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.E1018K	ENST00000256194.4	37	c.3052	CCDS7809.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.560221	0.96527	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21	5.17	5.17	0.71159	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.93798	0.8017	M	0.79926	2.475	0.45930	D	0.998763	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.991;0.994;0.996;0.997;0.996;0.999	D	0.94539	0.7743	10	0.87932	D	0	.	18.2925	0.90135	0.0:0.0:1.0:0.0	.	361;997;828;771;792;1018	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	K	828;361;1018;828;997;792	ENSP00000441689:E828K;ENSP00000256194:E1018K;ENSP00000433965:E828K;ENSP00000344894:E997K;ENSP00000368932:E792K	ENSP00000256194:E1018K	E	+	1	0	MICAL2	12235004	1.000000	0.71417	0.985000	0.45067	0.873000	0.50193	9.726000	0.98782	2.407000	0.81776	0.655000	0.94253	GAG	MICAL2	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000133816		0.567	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1	-	0.00	31	0	G	NM_014632		12278428	+1	tier1	-	no_errors	ENST00000256194	ensembl	human	known	74_37	missense	14.29	36	6	SNP	1.000	A
WLS	79971	genome.wustl.edu	37	1	68649222	68649222	+	Intron	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:68649222G>A	ENST00000262348.4	-	2	633				WLS_ENST00000354777.2_Intron|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000540432.1_Intron|WLS_ENST00000370976.3_Intron|GNG12-AS1_ENST00000420587.1_RNA|MIR1262_ENST00000408276.1_RNA	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator						anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						CTTGTTGAAGGCCAAAAATTA	0.373																																																	0													76.0	70.0	72.0					1																	68649222		1568	3582	5150	SO:0001627	intron_variant	0			BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.379+10415C>T	1.37:g.68649222G>A			B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	RNA	SNP	-	NULL	ENST00000262348.4	37	NULL	CCDS642.1	1																																																																																			MIR1262	-	-	ENSG00000221203		0.373	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR1262	HGNC	protein_coding	OTTHUMT00000025368.1	-	0.00	40	0	G	NM_024911		68649222	-1	tier1	-	no_errors	ENST00000408276	ensembl	human	known	74_37	rna	7.55	49	4	SNP	0.000	A
EPCAM	4072	genome.wustl.edu	37	2	47604906	47604906	+	Intron	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:47604906C>T	ENST00000263735.4	+	5	913				MIR559_ENST00000385188.1_RNA|EPCAM_ENST00000405271.1_Intron	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule						negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|stem cell differentiation (GO:0048863)|ureteric bud development (GO:0001657)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein complex binding (GO:0032403)	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						TACTGGAGCTCCCATCTTCTC	0.338																																																	3	Whole gene deletion(2)|Unknown(1)	haematopoietic_and_lymphoid_tissue(3)											29.0	27.0	28.0					2																	47604906		1336	3117	4453	SO:0001627	intron_variant	0			M33011	CCDS1833.1	2p21	2014-09-17	2008-12-16	2008-12-16	ENSG00000119888	ENSG00000119888		"""CD molecules"""	11529	protein-coding gene	gene with protein product		185535	"""antigen identified by monoclonal antibody AUA1"", ""tumor-associated calcium signal transducer 1"""	M4S1, MIC18, TACSTD1		8382772, 11306819	Standard	NM_002354		Approved	Ly74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, 323/A3, 17-1A, TACST-1, CO-17A, ESA	uc002rvx.3	P16422	OTTHUMG00000128853	ENST00000263735.4:c.555+690C>T	2.37:g.47604906C>T			P18180|Q6FG26|Q6FG49|Q96C47|Q9UCD0	RNA	SNP	-	NULL	ENST00000263735.4	37	NULL	CCDS1833.1	2																																																																																			MIR559	-	-	ENSG00000207923		0.338	EPCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR559	HGNC	protein_coding	OTTHUMT00000250792.2	-	0.00	60	0	C			47604906	+1	tier1	-	no_errors	ENST00000385188	ensembl	human	known	74_37	rna	42.17	48	35	SNP	0.007	T
MKS1	54903	genome.wustl.edu	37	17	56296579	56296579	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr17:56296579C>T	ENST00000393119.2	-	1	87	c.13G>A	c.(13-15)Gtc>Atc	p.V5I	LPO_ENST00000582328.1_Intron|MKS1_ENST00000537529.2_Intron|MKS1_ENST00000546108.1_5'UTR|MKS1_ENST00000337050.7_Missense_Mutation_p.V5I|MKS1_ENST00000313863.6_Missense_Mutation_p.V5I	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	5					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GTGCTCCAGACGGTCTCCGCC	0.706																																																	0													5.0	9.0	8.0					17																	56296579		1778	3650	5428	SO:0001583	missense	0			DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.13G>A	17.37:g.56296579C>T	ENSP00000376827:p.Val5Ile		B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	pfam_B9_dom	p.V5I	ENST00000393119.2	37	c.13	CCDS11603.2	17	.	.	.	.	.	.	.	.	.	.	C	7.675	0.687748	0.14973	.	.	ENSG00000011143	ENST00000393120;ENST00000393119;ENST00000337050	T;T;T	0.68331	1.49;-0.32;-0.1	4.88	-1.84	0.07809	.	1.474740	0.04435	U	0.369993	T	0.45736	0.1357	N	0.22421	0.69	0.09310	N	0.999995	B;B	0.10296	0.003;0.001	B;B	0.04013	0.001;0.0	T	0.11690	-1.0577	10	0.21014	T	0.42	-8.5104	1.7811	0.03031	0.1158:0.3686:0.2267:0.2889	.	5;5	A8MPP8;Q9NXB0	.;MKS1_HUMAN	I	5	ENSP00000376828:V5I;ENSP00000376827:V5I;ENSP00000338407:V5I	ENSP00000338407:V5I	V	-	1	0	MKS1	53651578	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	0.092000	0.15066	-0.117000	0.11872	-0.189000	0.12847	GTC	MKS1	-	NULL	ENSG00000011143		0.706	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MKS1	HGNC	protein_coding	OTTHUMT00000258015.2		0.00	65	0	C	NM_017777		56296579	-1			no_errors	ENST00000393119	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.000	T
MSANTD4	84437	genome.wustl.edu	37	11	105880531	105880531	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:105880531G>T	ENST00000301919.4	-	3	2184	c.769C>A	c.(769-771)Ctg>Atg	p.L257M	MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	257						nucleus (GO:0005634)											TCAATCTGCAGCCGCTCCTTC	0.458																																																	0													95.0	92.0	93.0					11																	105880531		2201	4299	6500	SO:0001583	missense	0			AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.769C>A	11.37:g.105880531G>T	ENSP00000304713:p.Leu257Met		Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	NULL	p.L257M	ENST00000301919.4	37	c.769	CCDS31663.1	11	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019449	0.54576	.	.	ENSG00000170903	ENST00000301919	.	.	.	5.34	4.43	0.53597	.	0.000000	0.64402	D	0.000001	T	0.63757	0.2538	L	0.32530	0.975	0.40344	D	0.979069	D	0.58970	0.984	D	0.70487	0.969	T	0.65878	-0.6061	9	0.52906	T	0.07	-17.2508	11.4365	0.50070	0.1466:0.0:0.8534:0.0	.	257	Q8NCY6	K1826_HUMAN	M	257	.	ENSP00000304713:L257M	L	-	1	2	KIAA1826	105385741	0.994000	0.37717	1.000000	0.80357	0.739000	0.42172	1.606000	0.36826	1.384000	0.46424	0.491000	0.48974	CTG	MSANTD4	-	NULL	ENSG00000170903		0.458	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSANTD4	HGNC	protein_coding	OTTHUMT00000388619.1		0.00	29	0	G	NM_032424		105880531	-1			no_errors	ENST00000301919	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
MUC17	140453	genome.wustl.edu	37	7	100682876	100682876	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:100682876G>T	ENST00000306151.4	+	3	8243	c.8179G>T	c.(8179-8181)Gct>Tct	p.A2727S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2727	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCACTTCTGCTGAAGCCAG	0.463																																																	0													250.0	253.0	252.0					7																	100682876		2203	4300	6503	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8179G>T	7.37:g.100682876G>T	ENSP00000302716:p.Ala2727Ser		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.A2727S	ENST00000306151.4	37	c.8179	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	3.195	-0.164998	0.06502	.	.	ENSG00000169876	ENST00000306151	T	0.01998	4.51	1.21	-2.42	0.06542	.	.	.	.	.	T	0.01092	0.0036	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.47761	-0.9092	9	0.10111	T	0.7	.	2.5247	0.04689	0.2649:0.0:0.329:0.4061	.	2727	Q685J3	MUC17_HUMAN	S	2727	ENSP00000302716:A2727S	ENSP00000302716:A2727S	A	+	1	0	MUC17	100469596	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.971000	0.03806	-1.404000	0.02050	-1.616000	0.00795	GCT	MUC17	-	NULL	ENSG00000169876		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0.00	98	0	G	NM_001040105		100682876	+1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	5.68	82	5	SNP	0.000	T
MUC4	4585	genome.wustl.edu	37	3	195509206	195509206	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:195509206G>T	ENST00000463781.3	-	2	9704	c.9245C>A	c.(9244-9246)tCc>tAc	p.S3082Y	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S3082Y	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGACCTGTGGATGCTGAGGA	0.597																																																	0																																										SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.9245C>A	3.37:g.195509206G>T	ENSP00000417498:p.Ser3082Tyr		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S3082Y	ENST00000463781.3	37	c.9245	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	4.316	0.057913	0.08339	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.34472	1.36;1.41	.	.	.	.	.	.	.	.	T	0.21801	0.0525	N	0.19112	0.55	0.09310	N	1	P	0.50156	0.932	B	0.43990	0.438	T	0.08006	-1.0743	7	.	.	.	.	4.2571	0.10722	0.0:0.4378:0.5622:0.0	.	2954	E7ESK3	.	Y	3082	ENSP00000417498:S3082Y;ENSP00000420243:S3082Y	.	S	-	2	0	MUC4	196993985	0.014000	0.17966	0.004000	0.12327	0.000000	0.00434	-0.538000	0.06120	0.497000	0.27926	0.000000	0.15137	TCC	MUC4	-	NULL	ENSG00000145113		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6		0.00	76	0	G	NM_018406		195509206	-1			no_errors	ENST00000463781	ensembl	human	known	74_37	missense	7.22	90	7	SNP	0.003	T
MYCBP2	23077	genome.wustl.edu	37	13	77739514	77739514	+	Missense_Mutation	SNP	A	A	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr13:77739514A>T	ENST00000544440.2	-	42	6256	c.6239T>A	c.(6238-6240)cTt>cAt	p.L2080H	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.L2118H|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L2080H					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CAATGAAAAAAGGGCCTCATT	0.323																																																	0													102.0	109.0	107.0					13																	77739514		2202	4299	6501	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6239T>A	13.37:g.77739514A>T	ENSP00000444596:p.Leu2080His			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.L2118H	ENST00000544440.2	37	c.6353		13	.	.	.	.	.	.	.	.	.	.	A	21.7	4.190081	0.78789	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.30714	1.53;1.52;1.53	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000001	T	0.30510	0.0767	L	0.29908	0.895	0.58432	D	0.999998	D	0.56287	0.975	P	0.48368	0.575	T	0.02345	-1.1173	10	0.31617	T	0.26	.	15.5001	0.75691	1.0:0.0:0.0:0.0	.	2080	O75592	MYCB2_HUMAN	H	2080;2118;2080	ENSP00000349892:L2080H;ENSP00000384288:L2118H;ENSP00000444596:L2080H	ENSP00000349892:L2080H	L	-	2	0	MYCBP2	76637515	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.339000	0.96797	2.058000	0.61347	0.477000	0.44152	CTT	MYCBP2	-	superfamily_ARM-type_fold	ENSG00000005810		0.323	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	-	0.00	45	0	A	NM_015057		77739514	-1	tier1	-	no_errors	ENST00000407578	ensembl	human	known	74_37	missense	34.92	41	22	SNP	1.000	T
MYO3B	140469	genome.wustl.edu	37	2	171243657	171243660	+	Frame_Shift_Del	DEL	CTCC	CTCC	-			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	CTCC	CTCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:171243657_171243660delCTCC	ENST00000408978.4	+	14	1559_1562	c.1416_1419delCTCC	c.(1414-1419)aactccfs	p.NS472fs	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Frame_Shift_Del_p.NS472fs|MYO3B_ENST00000334231.6_Frame_Shift_Del_p.NS481fs	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	472	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TACAAGTCAACTCCCTGGTGGAAG	0.441																																																	0																																										SO:0001589	frameshift_variant	0				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1416_1419delCTCC	2.37:g.171243657_171243660delCTCC	ENSP00000386213:p.Asn472fs		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.S482fs	ENST00000408978.4	37	c.1443_1446	CCDS42773.1	2																																																																																			MYO3B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000071909		0.441	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	HGNC	protein_coding	OTTHUMT00000333410.1		0.00	30	0	CTCC			171243660	+1	tier1		no_errors	ENST00000334231	ensembl	human	known	74_37	frame_shift_del	28.57	30	12	DEL	1.000:1.000:1.000:0.820	-
NAPA	8775	genome.wustl.edu	37	19	47998746	47998746	+	Intron	SNP	A	A	G			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:47998746A>G	ENST00000263354.3	-	4	642				NAPA_ENST00000595227.1_Intron|NAPA_ENST00000593785.1_5'Flank|NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha						apical protein localization (GO:0045176)|brain development (GO:0007420)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron differentiation (GO:0030182)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		GAAAGAGGGGACGCAAGGCTG	0.582																																					Ovarian(185;1135 2042 27703 31345 42493)												0													42.0	40.0	41.0					19																	47998746		692	1591	2283	SO:0001627	intron_variant	0			U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402			7641	protein-coding gene	gene with protein product	"""alpha SNAP"""	603215				9269766	Standard	NM_003827		Approved		uc002pha.2	P54920		ENST00000263354.3:c.342+60T>C	19.37:g.47998746A>G			A8K879|Q96IK3|Q9BVJ3	RNA	SNP	-	NULL	ENST00000263354.3	37	NULL	CCDS12702.1	19																																																																																			NAPA-AS1	-	-	ENSG00000268061		0.582	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPA-AS1	HGNC	protein_coding	OTTHUMT00000466048.2	-	0.00	47	0	A	NM_003827		47998746	+1	tier1	-	no_errors	ENST00000593284	ensembl	human	known	74_37	rna	30.00	21	9	SNP	0.017	G
NCDN	23154	genome.wustl.edu	37	1	36028834	36028834	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:36028834G>A	ENST00000373243.2	+	5	1800	c.1417G>A	c.(1417-1419)Gtt>Att	p.V473I	NCDN_ENST00000356090.4_Missense_Mutation_p.V473I|NCDN_ENST00000373253.3_Missense_Mutation_p.V456I	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	473					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCACCTGACCGTTGAAGATGG	0.582																																																	0													43.0	43.0	43.0					1																	36028834		2203	4300	6503	SO:0001583	missense	0			AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1417G>A	1.37:g.36028834G>A	ENSP00000362340:p.Val473Ile		D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	NULL	p.V473I	ENST00000373243.2	37	c.1417	CCDS392.1	1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.820937	0.50633	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243	.	.	.	4.71	3.78	0.43462	.	0.062123	0.64402	D	0.000006	T	0.42585	0.1209	N	0.19112	0.55	0.38072	D	0.936418	B	0.10296	0.003	B	0.01281	0.0	T	0.37753	-0.9692	9	0.51188	T	0.08	.	13.103	0.59231	0.0:0.0:0.8382:0.1618	.	473	Q9UBB6	NCDN_HUMAN	I	456;473;473	.	ENSP00000348394:V473I	V	+	1	0	NCDN	35801421	1.000000	0.71417	0.031000	0.17742	0.912000	0.54170	8.840000	0.92125	0.931000	0.37242	0.462000	0.41574	GTT	NCDN	-	NULL	ENSG00000020129		0.582	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NCDN	HGNC	protein_coding	OTTHUMT00000131298.1	-	0.00	37	0	G	NM_014284		36028834	+1	tier1	-	no_errors	ENST00000356090	ensembl	human	known	74_37	missense	50.00	10	10	SNP	0.927	A
NAV1	89796	genome.wustl.edu	37	1	201752571	201752571	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:201752571G>T	ENST00000367296.4	+	7	2815	c.2395G>T	c.(2395-2397)Gcc>Tcc	p.A799S	NAV1_ENST00000295624.6_Missense_Mutation_p.A799S|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367295.1_Missense_Mutation_p.A408S|NAV1_ENST00000367302.1_Missense_Mutation_p.A812S|NAV1_ENST00000367300.3_Missense_Mutation_p.A799S|NAV1_ENST00000367297.4_Missense_Mutation_p.A799S|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	799					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						ACCCTCACTAGCCAATCTTGA	0.458																																																	0													278.0	280.0	279.0					1																	201752571		2203	4300	6503	SO:0001583	missense	0			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.2395G>T	1.37:g.201752571G>T	ENSP00000356265:p.Ala799Ser		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A799S	ENST00000367296.4	37	c.2395	CCDS1414.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.32|17.32	3.359573|3.359573	0.61403|0.61403	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295|ENST00000430015	T;T;T;T;T;T|.	0.08370|.	3.1;3.13;3.13;3.14;3.11;3.14|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.116351|.	0.56097|.	D|.	0.000021|.	T|T	0.53965|0.53965	0.1829|0.1829	L|L	0.31752|0.31752	0.955|0.955	0.36859|0.36859	D|D	0.888293|0.888293	P;P;P;D;D|.	0.69078|.	0.865;0.865;0.532;0.996;0.997|.	B;B;B;D;D|.	0.76071|.	0.301;0.301;0.122;0.987;0.942|.	T|T	0.57260|0.57260	-0.7842|-0.7842	10|5	0.24483|.	T|.	0.36|.	-32.3209|-32.3209	13.7273|13.7273	0.62765|0.62765	0.0:0.0:0.8459:0.1541|0.0:0.0:0.8459:0.1541	.|.	799;408;799;307;799|.	Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3|.	.;.;NAV1_HUMAN;.;.|.	S|I	812;799;799;799;799;307;408|356	ENSP00000356271:A812S;ENSP00000356265:A799S;ENSP00000295624:A799S;ENSP00000356266:A799S;ENSP00000356269:A799S;ENSP00000356264:A408S|.	ENSP00000295624:A799S|.	A|S	+|+	1|2	0|0	NAV1|NAV1	200019194|200019194	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.998000|0.998000	0.95712|0.95712	6.653000|6.653000	0.74382|0.74382	2.524000|2.524000	0.85096|0.85096	0.585000|0.585000	0.79938|0.79938	GCC|AGC	NAV1	-	NULL	ENSG00000134369		0.458	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	-	0.00	55	0	G	NM_020443		201752571	+1	tier1	-	no_errors	ENST00000367296	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.998	T
NEB	4703	genome.wustl.edu	37	2	152548623	152548623	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:152548623C>A	ENST00000172853.10	-	22	2203	c.2056G>T	c.(2056-2058)Gag>Tag	p.E686*	NEB_ENST00000603639.1_Nonsense_Mutation_p.E686*|NEB_ENST00000427231.2_Nonsense_Mutation_p.E686*|NEB_ENST00000397345.3_Nonsense_Mutation_p.E686*|NEB_ENST00000604864.1_Nonsense_Mutation_p.E686*|NEB_ENST00000409198.1_Nonsense_Mutation_p.E686*			P20929	NEBU_HUMAN	nebulin	686					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TATGGGTCCTCCATGCTGCCT	0.363																																																	0													202.0	188.0	192.0					2																	152548623		1950	4153	6103	SO:0001587	stop_gained	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.2056G>T	2.37:g.152548623C>A	ENSP00000172853:p.Glu686*		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.E686*	ENST00000172853.10	37	c.2056		2	.	.	.	.	.	.	.	.	.	.	C	38	7.150662	0.98096	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	.	.	.	6.01	6.01	0.97437	.	0.124934	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	18.6879	0.91571	0.0:1.0:0.0:0.0	.	.	.	.	X	686	.	ENSP00000172853:E686X	E	-	1	0	NEB	152256869	1.000000	0.71417	0.997000	0.53966	0.443000	0.32047	7.112000	0.77086	2.855000	0.98099	0.585000	0.79938	GAG	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.363	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding			0.00	31	0	C	NM_004543		152548623	-1			no_errors	ENST00000397345	ensembl	human	known	74_37	nonsense	7.41	25	2	SNP	1.000	A
NFASC	23114	genome.wustl.edu	37	1	204953338	204953338	+	Intron	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:204953338C>T	ENST00000401399.1	+	20	2669				NFASC_ENST00000539706.1_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000367170.4_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367172.4_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000367171.4_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000404076.1_Intron			O94856	NFASC_HUMAN	neurofascin						axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GTAGCAAATGCGGGCTATAAG	0.483																																																	0																																										SO:0001627	intron_variant	0			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2470+2190C>T	1.37:g.204953338C>T			B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	RNA	SNP	-	NULL	ENST00000401399.1	37	NULL	CCDS53460.1	1																																																																																			NFASC	-	-	ENSG00000163531		0.483	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	-	0.00	36	0	C	NM_001005388		204953338	+1	tier1	-	no_errors	ENST00000471392	ensembl	human	known	74_37	rna	10.00	36	4	SNP	0.000	T
NLRP14	338323	genome.wustl.edu	37	11	7068053	7068053	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:7068053C>A	ENST00000299481.4	+	5	2459	c.2113C>A	c.(2113-2115)Caa>Aaa	p.Q705K		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	705					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTGTAAACTACAAAAGCTACT	0.383																																																	0													129.0	119.0	123.0					11																	7068053		2201	4296	6497	SO:0001583	missense	0			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2113C>A	11.37:g.7068053C>A	ENSP00000299481:p.Gln705Lys		Q7RTR6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.Q705K	ENST00000299481.4	37	c.2113	CCDS7776.1	11	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001666	0.35320	.	.	ENSG00000158077	ENST00000299481	D	0.91068	-2.78	4.84	2.83	0.33086	.	0.000000	0.46442	D	0.000294	D	0.88108	0.6348	L	0.60455	1.87	0.28814	N	0.898056	D	0.57257	0.979	P	0.48552	0.581	T	0.81782	-0.0775	10	0.38643	T	0.18	.	5.6818	0.17780	0.1919:0.7088:0.0:0.0994	.	705	Q86W24	NAL14_HUMAN	K	705	ENSP00000299481:Q705K	ENSP00000299481:Q705K	Q	+	1	0	NLRP14	7024629	0.999000	0.42202	0.924000	0.36721	0.190000	0.23558	0.435000	0.21510	1.407000	0.46875	0.585000	0.79938	CAA	NLRP14	-	NULL	ENSG00000158077		0.383	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP14	HGNC	protein_coding	OTTHUMT00000384551.1	-	0.00	70	0	C	NM_176822		7068053	+1	tier1	-	no_errors	ENST00000299481	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.994	A
NOC4L	79050	genome.wustl.edu	37	12	132635841	132635842	+	Frame_Shift_Ins	INS	-	-	G			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr12:132635841_132635842insG	ENST00000330579.1	+	11	1042_1043	c.1001_1002insG	c.(1000-1005)ttggacfs	p.D335fs	NOC4L_ENST00000538784.1_5'UTR|NOC4L_ENST00000535343.1_3'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	335					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		TACGGCCTCTTGGACCCCTCTG	0.649																																																	0																																										SO:0001589	frameshift_variant	0				CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.1003dupG	12.37:g.132635843_132635843dupG	ENSP00000328854:p.Asp335fs		Q8N2S5|Q96I14	Frame_Shift_Ins	INS	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.D335fs	ENST00000330579.1	37	c.1001_1002	CCDS9277.1	12																																																																																			NOC4L	-	pfam_CCAAT-binding_factor	ENSG00000184967		0.649	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOC4L	HGNC	protein_coding	OTTHUMT00000398999.1		0.00	94	0	-	NM_024078		132635842	+1	tier1		no_errors	ENST00000330579	ensembl	human	known	74_37	frame_shift_ins	20.73	65	17	INS	0.980:0.980	G
NONO	4841	genome.wustl.edu	37	X	70520815	70520815	+	3'UTR	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chrX:70520815C>T	ENST00000276079.8	+	0	2510				ITGB1BP2_ENST00000373829.3_5'Flank|ITGB1BP2_ENST00000538820.1_5'Flank|NONO_ENST00000535149.1_3'UTR|NONO_ENST00000373841.1_3'UTR|NONO_ENST00000490044.1_3'UTR	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding						circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					TCTTGATAGGCCTAGTACAAT	0.423			T	TFE3	papillary renal cancer								c|||	1	0.000264901	0.0	0.0	3775	,	,		13673	0.0		0.0	False		,,,				2504	0.001							Dom	yes		X	Xq13.1	4841	"""non-POU domain containing, octamer-binding"""		E	0																																										SO:0001624	3_prime_UTR_variant	0			L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.*889C>T	X.37:g.70520815C>T			B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	RNA	SNP	-	NULL	ENST00000276079.8	37	NULL	CCDS14410.1	X																																																																																			NONO	-	-	ENSG00000147140		0.423	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NONO	HGNC	protein_coding	OTTHUMT00000057138.1	-	0.00	30	0	C	NM_007363		70520815	+1	tier1	-	no_errors	ENST00000490044	ensembl	human	known	74_37	rna	8.77	52	5	SNP	0.993	T
NOTCH2	4853	genome.wustl.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-	rs372504208		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	GG	GG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	2	Deletion - Frameshift(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)																																								SO:0001589	frameshift_variant	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.17_18delCC	1.37:g.120612005_120612006delGG	ENSP00000256646:p.Pro6fs		Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.P6fs	ENST00000256646.2	37	c.18_17	CCDS908.1	1																																																																																			NOTCH2	-	pirsf_Notch	ENSG00000134250		0.762	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1		0.00	26	0	GG	NM_024408		120612004	-1			no_errors	ENST00000256646	ensembl	human	known	74_37	frame_shift_del	14.29	48	8	DEL	0.101:0.700	0
NOXRED1	122945	genome.wustl.edu	37	14	77873059	77873059	+	Intron	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr14:77873059G>T	ENST00000380835.2	-	4	849				NOXRED1_ENST00000298358.3_Silent_p.G230G	NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1						proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						AATATGTTGAGCCGTGACCAG	0.458																																																	0													110.0	91.0	97.0					14																	77873059		2203	4300	6503	SO:0001627	intron_variant	0			AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 148"""	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.682+7C>A	14.37:g.77873059G>T			B3KQ47|O95435	Silent	SNP	NULL	p.G230	ENST00000380835.2	37	c.690	CCDS45142.1	14																																																																																			NOXRED1	-	NULL	ENSG00000165555		0.458	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOXRED1	HGNC	protein_coding	OTTHUMT00000414103.1	-	0.00	66	0	G	NM_138791		77873059	-1	tier1	-	no_errors	ENST00000298358	ensembl	human	known	74_37	silent	64.52	22	40	SNP	0.000	T
NPAP1	23742	genome.wustl.edu	37	15	24922699	24922699	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr15:24922699C>T	ENST00000329468.2	+	1	2159	c.1685C>T	c.(1684-1686)tCt>tTt	p.S562F		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	562					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											ACAAACGCATCTGCCCACCTA	0.483																																																	0													155.0	142.0	146.0					15																	24922699		2203	4300	6503	SO:0001583	missense	0			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1685C>T	15.37:g.24922699C>T	ENSP00000333735:p.Ser562Phe			Missense_Mutation	SNP	NULL	p.S562F	ENST00000329468.2	37	c.1685	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	11.16	1.558094	0.27827	.	.	ENSG00000185823	ENST00000329468	T	0.10573	2.86	1.82	-0.237	0.13061	.	0.219914	0.23487	N	0.047649	T	0.07052	0.0179	L	0.43923	1.385	0.09310	N	1	B	0.27594	0.182	B	0.23018	0.043	T	0.25012	-1.0144	10	0.39692	T	0.17	.	3.0403	0.06137	0.0:0.5213:0.29:0.1888	.	562	Q9NZP6	CO002_HUMAN	F	562	ENSP00000333735:S562F	ENSP00000333735:S562F	S	+	2	0	C15orf2	22473792	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	0.286000	0.18902	-0.052000	0.13311	0.205000	0.17691	TCT	NPAP1	-	NULL	ENSG00000185823		0.483	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	-	0.00	21	0	C	NM_018958		24922699	+1	tier1	-	no_errors	ENST00000329468	ensembl	human	known	74_37	missense	21.88	25	7	SNP	0.001	T
NPAT	4863	genome.wustl.edu	37	11	108058908	108058908	+	Splice_Site	SNP	T	T	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:108058908T>A	ENST00000278612.8	-	7	662		c.e7-2		NPAT_ENST00000610253.1_Splice_Site	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus						positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		CTTCTCCAGCTGTATTTCAAG	0.318																																																	0													90.0	87.0	88.0					11																	108058908		1815	4079	5894	SO:0001630	splice_region_variant	0			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.557-2A>T	11.37:g.108058908T>A			A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Splice_Site	SNP	-	e7-2	ENST00000278612.8	37	c.557-2	CCDS41710.1	11	.	.	.	.	.	.	.	.	.	.	T	21.5	4.162775	0.78226	.	.	ENSG00000149308	ENST00000278612	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8649	0.70406	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NPAT	107564118	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.029000	0.64121	2.330000	0.79161	0.477000	0.44152	.	NPAT	-	-	ENSG00000149308		0.318	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAT	HGNC	protein_coding	OTTHUMT00000389506.2	-	0.00	37	0	T	NM_002519	Intron	108058908	-1	tier1	-	no_errors	ENST00000278612	ensembl	human	known	74_37	splice_site	56.25	14	18	SNP	1.000	A
NPHS1	4868	genome.wustl.edu	37	19	36333045	36333045	+	Silent	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:36333045G>A	ENST00000378910.5	-	19	2643	c.2644C>T	c.(2644-2646)Ctg>Ttg	p.L882L	NPHS1_ENST00000353632.6_Silent_p.L882L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	882	Ig-like C2-type 8.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGAGATCCAGAGGGACCCCG	0.632																																																	0													21.0	19.0	19.0					19																	36333045		2200	4296	6496	SO:0001819	synonymous_variant	0				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2644C>T	19.37:g.36333045G>A			A6NDH2|C3RX61	Silent	SNP	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L882	ENST00000378910.5	37	c.2644	CCDS32996.1	19																																																																																			NPHS1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000161270		0.632	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	HGNC	protein_coding	OTTHUMT00000452553.1	-	0.00	49	0	G			36333045	-1	tier1	-	no_errors	ENST00000378910	ensembl	human	known	74_37	silent	28.26	33	13	SNP	1.000	A
OBSCN	84033	genome.wustl.edu	37	1	228554146	228554146	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:228554146G>T	ENST00000422127.1	+	84	19266	c.19222G>T	c.(19222-19224)Gaa>Taa	p.E6408*	OBSCN_ENST00000570156.2_Nonsense_Mutation_p.E7365*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.E4042*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6408	Ig-like 54.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCAGCAGCAAGAAGGCACCAC	0.637																																																	0													23.0	26.0	25.0					1																	228554146		2102	4216	6318	SO:0001587	stop_gained	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.19222G>T	1.37:g.228554146G>T	ENSP00000409493:p.Glu6408*		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.E6408*	ENST00000422127.1	37	c.19222	CCDS58065.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	64|64	82.409008|82.409008	0.99994|0.99994	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000422127;ENST00000366707|ENST00000441106	.|.	.|.	.|.	5.41|5.41	3.43|3.43	0.39272|0.39272	.|.	1.290870|.	0.05399|.	N|.	0.540328|.	.|T	.|0.37865	.|0.1019	.|.	.|.	.|.	0.19300|0.19300	N|N	0.99998|0.99998	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.14868	.|-1.0457	.|4	0.18710|.	T|.	0.47|.	.|.	10.2325|10.2325	0.43264|0.43264	0.0763:0.1372:0.7865:0.0|0.0763:0.1372:0.7865:0.0	.|.	.|.	.|.	.|.	X|I	6408;4042|1024	.|.	ENSP00000355668:E4042X|.	E|R	+|+	1|2	0|0	OBSCN|OBSCN	226620769|226620769	0.951000|0.951000	0.32395|0.32395	0.774000|0.774000	0.31636|0.31636	0.429000|0.429000	0.31625|0.31625	1.926000|1.926000	0.40084|0.40084	2.553000|2.553000	0.86117|0.86117	0.313000|0.313000	0.20887|0.20887	GAA|AGA	OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000154358		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding			0.00	15	0	G	NM_052843		228554146	+1			no_errors	ENST00000422127	ensembl	human	known	74_37	nonsense	7.14	26	2	SNP	0.046	T
OR10C1	442194	genome.wustl.edu	37	6	29408609	29408609	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr6:29408609G>T	ENST00000444197.2	+	1	1527	c.817G>T	c.(817-819)Gtg>Ttg	p.V273L	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGACCCTCTGGTGTCCCTCTT	0.547																																																	0													198.0	216.0	209.0					6																	29408609		1511	2709	4220	SO:0001583	missense	0				CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.817G>T	6.37:g.29408609G>T	ENSP00000419119:p.Val273Leu		Q5SUN7|Q96R18	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.V273L	ENST00000444197.2	37	c.817	CCDS34364.1	6	.	.	.	.	.	.	.	.	.	.	G	0.395	-0.921603	0.02396	.	.	ENSG00000206474	ENST00000444197	T	0.37235	1.21	3.54	0.24	0.15489	GPCR, rhodopsin-like superfamily (1);	0.280175	0.18930	N	0.127260	T	0.04724	0.0128	N	0.16166	0.38	0.21445	N	0.999688	B	0.02656	0.0	B	0.04013	0.001	T	0.43988	-0.9357	10	0.02654	T	1	.	9.319	0.37952	0.0:0.2232:0.6646:0.1122	.	273	Q96KK4	O10C1_HUMAN	L	273	ENSP00000419119:V273L	ENSP00000419119:V273L	V	+	1	0	OR10C1	29516588	0.000000	0.05858	0.839000	0.33178	0.946000	0.59487	-2.336000	0.01105	0.179000	0.19938	-0.233000	0.12211	GTG	OR10C1	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000206474		0.547	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10C1	HGNC	protein_coding	OTTHUMT00000076415.2	-	0.00	38	0	G			29408609	+1	tier1	-	no_errors	ENST00000444197	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.503	T
OR10J1	26476	genome.wustl.edu	37	1	159409832	159409832	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:159409832G>T	ENST00000423932.3	+	1	321	c.284G>T	c.(283-285)aGc>aTc	p.S95I	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	95					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					ATGCTCTCCAGCCTCGTAGGT	0.468																																																	0													105.0	92.0	96.0					1																	159409832		2203	4300	6503	SO:0001583	missense	0			X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.284G>T	1.37:g.159409832G>T	ENSP00000399078:p.Ser95Ile		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S95I	ENST00000423932.3	37	c.284	CCDS1185.1	1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299844	0.40694	.	.	ENSG00000196184	ENST00000423932	T	0.00411	7.53	4.48	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.132994	0.34314	N	0.004077	T	0.00144	0.0004	N	0.11789	0.175	0.09310	N	1	P	0.49447	0.924	P	0.55345	0.774	T	0.40979	-0.9534	10	0.87932	D	0	.	3.7354	0.08508	0.1838:0.0:0.6112:0.205	.	95	P30954	O10J1_HUMAN	I	95	ENSP00000399078:S95I	ENSP00000399078:S95I	S	+	2	0	OR10J1	157676456	0.000000	0.05858	0.673000	0.29887	0.698000	0.40448	-0.517000	0.06275	0.736000	0.32559	0.655000	0.94253	AGC	OR10J1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196184		0.468	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J1	HGNC	protein_coding	OTTHUMT00000059020.1	-	0.00	45	0	G	NM_012351		159409832	+1	tier1	-	no_errors	ENST00000423932	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.033	T
OR11L1	391189	genome.wustl.edu	37	1	248004653	248004653	+	Silent	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:248004653C>A	ENST00000355784.2	-	1	601	c.546G>T	c.(544-546)ccG>ccT	p.P182P		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	182						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCATGAGTGGCGGGAGGTCGC	0.507																																																	0													91.0	96.0	94.0					1																	248004653		2203	4300	6503	SO:0001819	synonymous_variant	0			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.546G>T	1.37:g.248004653C>A				Silent	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.P182	ENST00000355784.2	37	c.546	CCDS31098.1	1																																																																																			OR11L1	-	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM	ENSG00000197591		0.507	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11L1	HGNC	protein_coding	OTTHUMT00000096850.1	-	0.00	51	0	C	NM_001001959		248004653	-1	tier1	-	no_errors	ENST00000355784	ensembl	human	known	74_37	silent	25.71	26	9	SNP	0.000	A
OR4K15	81127	genome.wustl.edu	37	14	20444596	20444596	+	Missense_Mutation	SNP	A	A	G			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr14:20444596A>G	ENST00000305051.5	+	1	994	c.919A>G	c.(919-921)Aac>Gac	p.N307D		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTTATTTTAAACCCTGTAAT	0.408																																																	0													102.0	102.0	102.0					14																	20444596		2203	4300	6503	SO:0001583	missense	0				CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.919A>G	14.37:g.20444596A>G	ENSP00000304077:p.Asn307Asp		B9EIL3|Q6IEZ4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N307D	ENST00000305051.5	37	c.919	CCDS32026.1	14	.	.	.	.	.	.	.	.	.	.	.	16.65	3.180888	0.57800	.	.	ENSG00000169488	ENST00000305051	T	0.56444	0.46	3.99	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000036	T	0.66247	0.2770	L	0.60845	1.875	0.40691	D	0.982393	D	0.89917	1.0	D	0.97110	1.0	T	0.70185	-0.4941	10	0.87932	D	0	.	10.8799	0.46933	1.0:0.0:0.0:0.0	.	307	Q8NH41	OR4KF_HUMAN	D	307	ENSP00000304077:N307D	ENSP00000304077:N307D	N	+	1	0	OR4K15	19514436	1.000000	0.71417	0.998000	0.56505	0.412000	0.31113	8.195000	0.89723	1.665000	0.50811	0.482000	0.46254	AAC	OR4K15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000169488		0.408	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K15	HGNC	protein_coding	OTTHUMT00000409883.1		0.00	19	0	A			20444596	+1			no_errors	ENST00000305051	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.998	G
OR5L2	26338	genome.wustl.edu	37	11	55594834	55594834	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:55594834C>A	ENST00000378397.1	+	1	140	c.140C>A	c.(139-141)gCa>gAa	p.A47E		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GGCATGACTGCACTGATTCAG	0.493										HNSCC(27;0.073)																																							0													317.0	277.0	290.0					11																	55594834		2200	4296	6496	SO:0001583	missense	0			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.140C>A	11.37:g.55594834C>A	ENSP00000367650:p.Ala47Glu		Q6IF66|Q96RB2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A47E	ENST00000378397.1	37	c.140	CCDS31511.1	11	.	.	.	.	.	.	.	.	.	.	.	11.23	1.576247	0.28092	.	.	ENSG00000205030	ENST00000378397	T	0.01092	5.35	5.31	0.742	0.18341	GPCR, rhodopsin-like superfamily (1);	0.964949	0.08518	N	0.933905	T	0.03305	0.0096	M	0.79258	2.445	0.09310	N	1	P	0.52842	0.956	P	0.50754	0.649	T	0.42032	-0.9475	10	0.48119	T	0.1	0.1146	6.7151	0.23298	0.0:0.4264:0.0:0.5736	.	47	Q8NGL0	OR5L2_HUMAN	E	47	ENSP00000367650:A47E	ENSP00000367650:A47E	A	+	2	0	OR5L2	55351410	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-0.371000	0.07513	0.347000	0.23924	0.626000	0.83405	GCA	OR5L2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000205030		0.493	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	-	0.00	59	0	C	NM_001004739		55594834	+1	tier1	-	no_errors	ENST00000378397	ensembl	human	known	74_37	missense	26.67	66	24	SNP	0.000	A
OTC	5009	genome.wustl.edu	37	X	38211918	38211918	+	5'UTR	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chrX:38211918C>A	ENST00000039007.4	+	0	121				OTC_ENST00000488812.1_3'UTR|TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase						ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	TTTTCAAGGGCATAGAATCGT	0.418																																																	0													96.0	79.0	85.0					X																	38211918		2202	4300	6502	SO:0001623	5_prime_UTR_variant	0			K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.-32C>A	X.37:g.38211918C>A			A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	RNA	SNP	-	NULL	ENST00000039007.4	37	NULL	CCDS14247.1	X																																																																																			OTC	-	-	ENSG00000036473		0.418	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTC	HGNC	protein_coding	OTTHUMT00000059006.2	-	0.00	48	0	C			38211918	+1	tier1	-	no_errors	ENST00000488812	ensembl	human	known	74_37	rna	9.09	30	3	SNP	0.016	A
OVGP1	5016	genome.wustl.edu	37	1	111957529	111957529	+	Missense_Mutation	SNP	C	C	G			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:111957529C>G	ENST00000369732.3	-	11	1649	c.1594G>C	c.(1594-1596)Gtg>Ctg	p.V532L		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	532					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		ACAGGGGTCACAGACTGATGA	0.537																																																	0													59.0	57.0	58.0					1																	111957529		2202	4286	6488	SO:0001583	missense	0			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1594G>C	1.37:g.111957529C>G	ENSP00000358747:p.Val532Leu		A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.V532L	ENST00000369732.3	37	c.1594	CCDS834.1	1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565692	0.45694	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.05925	3.37	2.62	2.62	0.31277	.	.	.	.	.	T	0.01558	0.0050	L	0.29908	0.895	0.27544	N	0.950696	P;B	0.39862	0.692;0.37	B;B	0.28385	0.089;0.024	T	0.45071	-0.9286	9	0.72032	D	0.01	7.0158	9.2883	0.37771	0.0:1.0:0.0:0.0	.	532;596	Q12889;Q59HH5	OVGP1_HUMAN;.	L	532;596;340	ENSP00000358747:V532L	ENSP00000358743:V596L	V	-	1	0	OVGP1	111759052	0.356000	0.24930	0.015000	0.15790	0.066000	0.16364	0.397000	0.20883	1.389000	0.46526	0.585000	0.79938	GTG	OVGP1	-	NULL	ENSG00000085465		0.537	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVGP1	HGNC	protein_coding	OTTHUMT00000032461.1		0.00	47	0	C	NM_002557		111957529	-1			no_errors	ENST00000369732	ensembl	human	known	74_37	missense	12.73	48	7	SNP	0.061	G
OVOL2	58495	genome.wustl.edu	37	20	18005451	18005451	+	Silent	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr20:18005451G>A	ENST00000278780.6	-	4	899	c.657C>T	c.(655-657)tgC>tgT	p.C219C	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	219					angiogenesis (GO:0001525)|dorsal/ventral pattern formation (GO:0009953)|embryonic digestive tract morphogenesis (GO:0048557)|endocardium formation (GO:0060214)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of keratinocyte proliferation (GO:0010837)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						CCGTGTAGCCGCAATCCTCGC	0.577																																																	0													69.0	63.0	65.0					20																	18005451		2203	4300	6503	SO:0001819	synonymous_variant	0			AK022284	CCDS13132.1	20p11.23	2013-10-17	2013-10-17	2005-05-31	ENSG00000125850	ENSG00000125850		"""Zinc fingers, C2H2-type"""	15804	protein-coding gene	gene with protein product			"""zinc finger protein 339"", ""ovo-like 2 (Drosophila)"""	ZNF339			Standard	NM_021220		Approved	bA504H3.3, HOVO2	uc002wqi.1	Q9BRP0	OTTHUMG00000031960	ENST00000278780.6:c.657C>T	20.37:g.18005451G>A			Q5T8B4|Q9BX22|Q9HA54|Q9Y4M0	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C219	ENST00000278780.6	37	c.657	CCDS13132.1	20																																																																																			OVOL2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000125850		0.577	OVOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVOL2	HGNC	protein_coding	OTTHUMT00000078148.5		0.00	33	0	G	NM_021220		18005451	-1			no_errors	ENST00000278780	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.351	A
PCDHAC2	56134	genome.wustl.edu	37	5	140347416	140347416	+	Silent	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr5:140347416C>T	ENST00000289269.5	+	1	1597	c.1065C>T	c.(1063-1065)atC>atT	p.I355I	PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	355	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGACATCGTGGACGTGA	0.577																																					Melanoma(190;638 2083 3390 11909 52360)												0													78.0	66.0	70.0					5																	140347416		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1065C>T	5.37:g.140347416C>T			Q2M3V1|Q9Y5F4	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.I355	ENST00000289269.5	37	c.1065	CCDS4242.1	5																																																																																			PCDHAC2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000243232		0.577	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	HGNC	protein_coding	OTTHUMT00000251802.2		0.00	42	0	C	NM_018899		140347416	+1			no_errors	ENST00000289269	ensembl	human	known	74_37	silent	5.77	49	3	SNP	0.024	T
PCDHB2	56133	genome.wustl.edu	37	5	140476081	140476081	+	Silent	SNP	C	C	T	rs200168689		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr5:140476081C>T	ENST00000194155.4	+	1	1855	c.1707C>T	c.(1705-1707)aaC>aaT	p.N569N		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	569					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.N569>?(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGCAGAACGGCTCCGCGC	0.726																																																	1	Complex(1)	NS(1)											9.0	11.0	10.0					5																	140476081		2108	4060	6168	SO:0001819	synonymous_variant	0			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1707C>T	5.37:g.140476081C>T			Q4KMU1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N569	ENST00000194155.4	37	c.1707	CCDS4244.1	5																																																																																			PCDHB2	-	superfamily_Cadherin-like	ENSG00000112852		0.726	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	HGNC	protein_coding	OTTHUMT00000251801.2	-	0.00	82	0	C	NM_018936		140476081	+1	tier1	rs200168689	no_errors	ENST00000194155	ensembl	human	known	74_37	silent	43.31	69	55	SNP	0.994	T
PCGF2	7703	genome.wustl.edu	37	17	36892358	36892358	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr17:36892358delG	ENST00000580830.1	-	11	1343	c.642delC	c.(640-642)atcfs	p.I214fs	PCGF2_ENST00000578109.1_Frame_Shift_Del_p.L162fs|PCGF2_ENST00000360797.2_Frame_Shift_Del_p.I214fs|PCGF2_ENST00000581345.1_Frame_Shift_Del_p.I214fs|PCGF2_ENST00000579882.1_Frame_Shift_Del_p.L216fs|PCGF2_ENST00000585100.1_Frame_Shift_Del_p.L216fs			P35227	PCGF2_HUMAN	polycomb group ring finger 2	214					anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					GCCAGGGGTAGATGTAGGCGA	0.627																																																	0													101.0	62.0	75.0					17																	36892358		2199	4298	6497	SO:0001589	frameshift_variant	0			D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	12929	protein-coding gene	gene with protein product		600346	"""ring finger protein 110"""	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.642delC	17.37:g.36892358delG	ENSP00000461961:p.Ile214fs		A6NGD8	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.Y215fs	ENST00000580830.1	37	c.642	CCDS32638.1	17																																																																																			PCGF2	-	NULL	ENSG00000056661		0.627	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF2	HGNC	protein_coding	OTTHUMT00000442246.2		0.00	14	0	G	NM_007144		36892358	-1	tier1		no_errors	ENST00000360797	ensembl	human	known	74_37	frame_shift_del	37.14	22	13	DEL	1.000	-
PCSK5	5125	genome.wustl.edu	37	9	78790192	78790192	+	Intron	SNP	C	C	G	rs200914896		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr9:78790192C>G	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376767.3_Missense_Mutation_p.R683G|PCSK5_ENST00000376752.4_Intron	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ggaatggaatcgaatcgaatc	0.373																																																	0																																										SO:0001627	intron_variant	0				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+147C>G	9.37:g.78790192C>G			F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.R683G	ENST00000545128.1	37	c.2047	CCDS55320.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	0.525|0.525	-0.860634|-0.860634	0.02610|0.02610	.|.	.|.	ENSG00000099139|ENSG00000099139	ENST00000376767|ENST00000396108	T|.	0.65916|.	-0.18|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.35098|0.35098	0.0920|0.0920	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.38045|0.38045	-0.9679|-0.9679	7|4	0.07325|0.87932	T|D	0.83|0	.|.	2.8186|2.8186	0.05465|0.05465	0.5:0.5:0.0:0.0|0.5:0.5:0.0:0.0	.|.	683|.	B1AMG5|.	.|.	G|W	683|681	ENSP00000365958:R683G|.	ENSP00000365958:R683G|ENSP00000379415:S681W	R|S	+|+	1|2	2|0	PCSK5|PCSK5	77980012|77980012	0.000000|0.000000	0.05858|0.05858	0.075000|0.075000	0.20258|0.20258	0.077000|0.077000	0.17291|0.17291	-2.681000|-2.681000	0.00837|0.00837	-0.000000|-0.000000	0.14550|0.14550	0.000000|0.000000	0.15137|0.15137	CGA|TCG	PCSK5	-	NULL	ENSG00000099139		0.373	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding			0.00	8	0	C			78790192	+1			no_errors	ENST00000376767	ensembl	human	known	74_37	missense	33.33	4	2	SNP	0.006	G
PDE6B	5158	genome.wustl.edu	37	4	652796	652796	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr4:652796G>T	ENST00000496514.1	+	11	1478	c.1457G>T	c.(1456-1458)gGc>gTc	p.G486V	RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000255622.6_Missense_Mutation_p.G486V|PDE6B_ENST00000429163.2_Missense_Mutation_p.G207V			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	486					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GACGAGCTGGGCGAAATCCTG	0.612																																					GBM(71;463 1194 9848 25922 46834)												0													120.0	89.0	100.0					4																	652796		2203	4300	6503	SO:0001583	missense	0			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1457G>T	4.37:g.652796G>T	ENSP00000420295:p.Gly486Val		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.G486V	ENST00000496514.1	37	c.1457	CCDS33932.1	4	.	.	.	.	.	.	.	.	.	.	G	0.189	-1.055014	0.01965	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	T;T;T	0.65916	-0.02;-0.02;-0.18	4.98	2.22	0.28083	.	0.782790	0.11400	N	0.567916	T	0.30759	0.0775	N	0.02539	-0.55	0.18873	N	0.999988	B;B	0.09022	0.001;0.002	B;B	0.10450	0.002;0.005	T	0.23261	-1.0193	10	0.15066	T	0.55	.	5.5876	0.17283	0.1774:0.3058:0.5168:0.0	.	486;486	P35913;P35913-2	PDE6B_HUMAN;.	V	486;486;207	ENSP00000255622:G486V;ENSP00000420295:G486V;ENSP00000406334:G207V	ENSP00000255622:G486V	G	+	2	0	PDE6B	642796	0.000000	0.05858	0.456000	0.27044	0.150000	0.21749	-0.228000	0.09114	0.479000	0.27511	0.462000	0.41574	GGC	PDE6B	-	NULL	ENSG00000133256		0.612	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE6B	HGNC	protein_coding	OTTHUMT00000358109.1		0.00	28	0	G	NM_000283		652796	+1			no_errors	ENST00000496514	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.001	T
PDIA4	9601	genome.wustl.edu	37	7	148701272	148701272	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:148701272G>A	ENST00000286091.4	-	10	1784	c.1552C>T	c.(1552-1554)Cca>Tca	p.P518S		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	518	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TTGGGCACTGGCTGGGATTTG	0.552																																																	0													146.0	137.0	140.0					7																	148701272		2203	4300	6503	SO:0001583	missense	0			BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1552C>T	7.37:g.148701272G>A	ENSP00000286091:p.Pro518Ser		A8K4K6|Q549T6	Missense_Mutation	SNP	pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.P518S	ENST00000286091.4	37	c.1552	CCDS5893.1	7	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739873	0.89573	.	.	ENSG00000155660	ENST00000286091	T	0.21734	1.99	5.8	4.91	0.64330	Thioredoxin-like fold (3);	0.049980	0.85682	D	0.000000	T	0.46908	0.1417	M	0.69823	2.125	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.51004	-0.8760	10	0.72032	D	0.01	.	16.2982	0.82786	0.0:0.0:0.8666:0.1334	.	518	P13667	PDIA4_HUMAN	S	518	ENSP00000286091:P518S	ENSP00000286091:P518S	P	-	1	0	PDIA4	148332205	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	7.691000	0.84191	1.437000	0.47472	0.650000	0.86243	CCA	PDIA4	-	pirsf_Protein_diS-isomerase_A4,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase	ENSG00000155660		0.552	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA4	HGNC	protein_coding	OTTHUMT00000317077.1	-	0.00	46	0	G	NM_004911		148701272	-1	tier1	-	no_errors	ENST00000286091	ensembl	human	known	74_37	missense	6.67	70	5	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178928045	178928045	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:178928045G>T	ENST00000263967.3	+	8	1480	c.1323G>T	c.(1321-1323)atG>atT	p.M441I		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	441	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CTGGAAAAATGGCTTTGAATC	0.343		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	0													127.0	122.0	124.0					3																	178928045		1838	4086	5924	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1323G>T	3.37:g.178928045G>T	ENSP00000263967:p.Met441Ile		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.M441I	ENST00000263967.3	37	c.1323	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074473	0.36566	.	.	ENSG00000121879	ENST00000263967	T	0.76186	-1.0	5.64	5.64	0.86602	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.078115	0.85682	D	0.000000	T	0.54159	0.1841	N	0.02697	-0.525	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.51004	-0.8760	10	0.19147	T	0.46	-23.0806	19.6973	0.96031	0.0:0.0:1.0:0.0	.	441	P42336	PK3CA_HUMAN	I	441	ENSP00000263967:M441I	ENSP00000263967:M441I	M	+	3	0	PIK3CA	180410739	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.660000	0.83776	2.674000	0.91012	0.655000	0.94253	ATG	PIK3CA	-	pfam_PI3K_C2_dom,superfamily_C2_dom	ENSG00000121879		0.343	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2		0.00	40	0	G			178928045	+1			no_errors	ENST00000263967	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178938934	178938934	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:178938934G>A	ENST00000263967.3	+	14	2333	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	726			E -> K (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E726K(8)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAGAAGGATGAAACACAAAA	0.428		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	8	Substitution - Missense(8)	lung(4)|large_intestine(2)|breast(2)											89.0	78.0	82.0					3																	178938934		1917	4118	6035	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2176G>A	3.37:g.178938934G>A	ENSP00000263967:p.Glu726Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E726K	ENST00000263967.3	37	c.2176	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308869	0.60305	.	.	ENSG00000121879	ENST00000263967	T	0.80653	-1.4	5.67	5.67	0.87782	Protein kinase-like domain (1);	0.166180	0.38778	U	0.001568	T	0.73450	0.3588	L	0.36672	1.1	0.80722	D	1	P	0.46064	0.872	B	0.42738	0.396	T	0.71401	-0.4604	10	0.02654	T	1	-19.3819	19.7612	0.96319	0.0:0.0:1.0:0.0	.	726	P42336	PK3CA_HUMAN	K	726	ENSP00000263967:E726K	ENSP00000263967:E726K	E	+	1	0	PIK3CA	180421628	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.476000	0.97823	2.670000	0.90874	0.655000	0.94253	GAA	PIK3CA	-	superfamily_Kinase-like_dom	ENSG00000121879		0.428	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0.00	86	0	G			178938934	+1	tier1	-	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	26.06	105	37	SNP	1.000	A
PKD1L1	168507	genome.wustl.edu	37	7	47872850	47872850	+	Splice_Site	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:47872850G>T	ENST00000289672.2	-	41	6225	c.6175C>A	c.(6175-6177)Caa>Aaa	p.Q2059K		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2059					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GATGCAGGTTGCTAGAATGAC	0.557																																																	0													45.0	35.0	38.0					7																	47872850		2203	4300	6503	SO:0001630	splice_region_variant	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.6175-1C>A	7.37:g.47872850G>T			Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like	p.Q2059K	ENST00000289672.2	37	c.6175	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	G	0.702	-0.790606	0.02884	.	.	ENSG00000158683	ENST00000289672	T	0.18174	2.23	3.58	0.156	0.14910	.	4.852140	0.01226	N	0.008221	T	0.07458	0.0188	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.22347	-1.0219	10	0.05959	T	0.93	1.2771	3.3442	0.07129	0.1504:0.0:0.4229:0.4267	.	2059	Q8TDX9	PK1L1_HUMAN	K	2059	ENSP00000289672:Q2059K	ENSP00000289672:Q2059K	Q	-	1	0	PKD1L1	47839375	0.018000	0.18449	0.003000	0.11579	0.426000	0.31534	0.016000	0.13377	0.016000	0.14998	0.563000	0.77884	CAA	PKD1L1	-	NULL	ENSG00000158683		0.557	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1		0.00	28	0	G	NM_138295	Missense_Mutation	47872850	-1			no_errors	ENST00000289672	ensembl	human	known	74_37	missense	9.09	50	5	SNP	0.003	T
PLCB4	5332	genome.wustl.edu	37	20	9352984	9352984	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr20:9352984delA	ENST00000378493.1	+	8	635	c.620delA	c.(619-621)gaafs	p.E207fs	PLCB4_ENST00000378473.3_Frame_Shift_Del_p.E207fs|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Frame_Shift_Del_p.E207fs|PLCB4_ENST00000278655.4_Frame_Shift_Del_p.E207fs|PLCB4_ENST00000334005.3_Frame_Shift_Del_p.E207fs|PLCB4_ENST00000414679.2_Frame_Shift_Del_p.E207fs			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	207					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTTCTTATGAAAAGTTCTAT	0.348																																																	0													78.0	79.0	79.0					20																	9352984		2202	4300	6502	SO:0001589	frameshift_variant	0				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.620delA	20.37:g.9352984delA	ENSP00000367754:p.Glu207fs		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Frame_Shift_Del	DEL	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.K208fs	ENST00000378493.1	37	c.620	CCDS13105.1	20																																																																																			PLCB4	-	pirsf_PLC-beta	ENSG00000101333		0.348	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2		0.00	43	0	A			9352984	+1	tier1		no_errors	ENST00000334005	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	1.000	-
PLCE1	51196	genome.wustl.edu	37	10	95993928	95993928	+	Silent	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr10:95993928G>A	ENST00000371380.3	+	5	2308	c.2073G>A	c.(2071-2073)gtG>gtA	p.V691V	PLCE1_ENST00000260766.3_Silent_p.V691V|PLCE1_ENST00000371385.3_Silent_p.V383V|PLCE1_ENST00000371375.1_Silent_p.V383V			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	691	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAAAGGTGGTGACACGTGCCC	0.532																																																	0													152.0	156.0	155.0					10																	95993928		2061	4193	6254	SO:0001819	synonymous_variant	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.2073G>A	10.37:g.95993928G>A			A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.V691	ENST00000371380.3	37	c.2073	CCDS41552.1	10																																																																																			PLCE1	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000138193		0.532	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	-	0.00	58	0	G	NM_016341		95993928	+1	tier1	-	no_errors	ENST00000260766	ensembl	human	known	74_37	silent	42.47	42	31	SNP	1.000	A
PLEKHG5	57449	genome.wustl.edu	37	1	6533205	6533205	+	Silent	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:6533205G>T	ENST00000400915.3	-	10	1059	c.993C>A	c.(991-993)ggC>ggA	p.G331G	PLEKHG5_ENST00000400913.1_Silent_p.G275G|PLEKHG5_ENST00000340850.5_Silent_p.G275G|PLEKHG5_ENST00000377728.3_Silent_p.G275G|PLEKHG5_ENST00000535355.1_Silent_p.G344G|PLEKHG5_ENST00000377737.2_Silent_p.G275G|PLEKHG5_ENST00000377725.1_Silent_p.G275G|PLEKHG5_ENST00000537245.1_Silent_p.G354G|PLEKHG5_ENST00000377740.3_Silent_p.G352G|PLEKHG5_ENST00000377732.1_Silent_p.G312G|PLEKHG5_ENST00000377748.1_Silent_p.G352G|PLEKHG5_ENST00000544978.1_Silent_p.G275G	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	331					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TGTGCAGCTTGCCCTCCAGCT	0.637																																																	0													49.0	55.0	53.0					1																	6533205		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.993C>A	1.37:g.6533205G>T			B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G354	ENST00000400915.3	37	c.1062	CCDS41241.1	1																																																																																			PLEKHG5	-	NULL	ENSG00000171680		0.637	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	HGNC	protein_coding	OTTHUMT00000002631.1		0.00	21	0	G	NM_020631		6533205	-1			no_errors	ENST00000537245	ensembl	human	known	74_37	silent	15.38	22	4	SNP	1.000	T
PPP2R1A	5518	genome.wustl.edu	37	19	52714685	52714685	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:52714685G>A	ENST00000322088.6	+	4	501	c.443G>A	c.(442-444)tGc>tAc	p.C148Y	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.C93Y|PPP2R1A_ENST00000473455.2_3'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	148	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		ACCTCGGCCTGCGGCCTCTTC	0.637			Mis		clear cell ovarian carcinoma																																			Dom?	yes		19	19q13.41	5518	"""protein phosphatase 2, regulatory subunit A, alpha"""		E	0													53.0	56.0	55.0					19																	52714685		2203	4300	6503	SO:0001583	missense	0				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.443G>A	19.37:g.52714685G>A	ENSP00000324804:p.Cys148Tyr		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.C148Y	ENST00000322088.6	37	c.443	CCDS12849.1	19	.	.	.	.	.	.	.	.	.	.	G	24.4	4.521969	0.85600	.	.	ENSG00000105568	ENST00000423369;ENST00000322088;ENST00000444322	T;T	0.33438	1.41;1.41	4.58	4.58	0.56647	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	T	0.66839	0.2830	H	0.95574	3.69	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.76575	0.988;0.962;0.962	T	0.77869	-0.2427	10	0.87932	D	0	-13.5379	15.2851	0.73822	0.0:0.0:1.0:0.0	.	93;148;148	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	Y	138;148;93	ENSP00000324804:C148Y;ENSP00000415067:C93Y	ENSP00000324804:C148Y	C	+	2	0	PPP2R1A	57406497	1.000000	0.71417	0.988000	0.46212	0.889000	0.51656	8.559000	0.90708	2.547000	0.85894	0.655000	0.94253	TGC	PPP2R1A	-	superfamily_ARM-type_fold	ENSG00000105568		0.637	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R1A	HGNC	protein_coding	OTTHUMT00000267967.2	-	0.00	69	0	G	NM_014225		52714685	+1	tier1	-	no_errors	ENST00000322088	ensembl	human	known	74_37	missense	32.98	63	31	SNP	1.000	A
PPP3CB	5532	genome.wustl.edu	37	10	75239222	75239222	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr10:75239222C>T	ENST00000360663.5	-	2	250	c.139G>A	c.(139-141)Gat>Aat	p.D47N	PPP3CB_ENST00000394829.2_Missense_Mutation_p.D47N|PPP3CB_ENST00000545874.1_5'UTR|PPP3CB_ENST00000394828.2_Missense_Mutation_p.D47N|PPP3CB_ENST00000342558.3_Missense_Mutation_p.D47N|PPP3CB_ENST00000394822.2_Missense_Mutation_p.D47N			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	47	Catalytic.				axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					GGTATCCCATCCAAATCAAAT	0.393																																																	0													111.0	107.0	108.0					10																	75239222		2203	4300	6503	SO:0001583	missense	0			M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.139G>A	10.37:g.75239222C>T	ENSP00000353881:p.Asp47Asn		P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.D47N	ENST00000360663.5	37	c.139	CCDS7328.1	10	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942230	0.34283	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394828;ENST00000342558;ENST00000394822	T;T;T;T;T	0.05258	3.47;3.47;3.47;3.47;3.47	5.61	4.71	0.59529	.	0.494629	0.17707	N	0.164712	T	0.04092	0.0114	N	0.16066	0.365	0.80722	D	1	B;B;B;B	0.22909	0.0;0.0;0.077;0.0	B;B;B;B	0.19148	0.002;0.0;0.024;0.0	T	0.38779	-0.9645	10	0.08381	T	0.77	.	13.9358	0.64023	0.0:0.9276:0.0:0.0724	.	47;47;47;47	P16298-2;P16298-3;Q8N1F0;P16298	.;.;.;PP2BB_HUMAN	N	47	ENSP00000353881:D47N;ENSP00000378306:D47N;ENSP00000378305:D47N;ENSP00000343147:D47N;ENSP00000378299:D47N	ENSP00000343147:D47N	D	-	1	0	PPP3CB	74909228	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.872000	0.63050	2.661000	0.90470	0.655000	0.94253	GAT	PPP3CB	-	NULL	ENSG00000107758		0.393	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	PPP3CB	HGNC	protein_coding	OTTHUMT00000048669.1		0.00	23	0	C	NM_021132		75239222	-1			no_errors	ENST00000394829	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T
PRB1	5542	genome.wustl.edu	37	12	11506233	11506233	+	Silent	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr12:11506233G>T	ENST00000500254.2	-	4	442	c.405C>A	c.(403-405)ggC>ggA	p.G135G	PRB1_ENST00000545626.1_Silent_p.G115G|PRB1_ENST00000546254.1_Silent_p.G135G	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGACTTGCTGCCTCCTTGTG	0.597																																																	0													196.0	237.0	223.0					12																	11506233		2152	4276	6428	SO:0001819	synonymous_variant	0				CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.405C>A	12.37:g.11506233G>T			Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Silent	SNP	NULL	p.G135	ENST00000500254.2	37	c.405	CCDS8642.1	12																																																																																			PRB1	-	NULL	ENSG00000251655		0.597	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB1	HGNC	protein_coding	OTTHUMT00000402312.1		0.00	57	0	G	NM_005039		11506233	-1			no_errors	ENST00000500254	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.000	T
PRUNE	58497	genome.wustl.edu	37	1	150980967	150980967	+	5'UTR	SNP	C	C	T	rs587606515		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:150980967C>T	ENST00000271620.3	+	0	15				FAM63A_ENST00000361936.5_5'Flank|PRUNE_ENST00000467771.1_3'UTR|FAM63A_ENST00000312210.5_5'Flank|FAM63A_ENST00000493834.2_5'Flank|FAM63A_ENST00000361738.6_5'Flank|PRUNE_ENST00000368937.1_5'UTR|PRUNE_ENST00000368936.1_5'UTR|PRUNE_ENST00000271619.8_5'UTR|FAM63A_ENST00000470877.1_5'Flank|PRUNE_ENST00000368935.1_5'Flank	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase							cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCCGATTCGCCGTGTGGCGGG	0.726													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13356	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001623	5_prime_UTR_variant	0			U67085	CCDS977.1	1q21.2	2013-04-29	2013-04-29		ENSG00000143363	ENSG00000143363	3.6.1.11		13420	protein-coding gene	gene with protein product			"""prune homolog (Drosophila)"""			10602478, 11687967, 18700747	Standard	NM_021222		Approved	DRES-17, HTCD37	uc001ewh.1	Q86TP1	OTTHUMG00000035062	ENST00000271620.3:c.-142C>T	1.37:g.150980967C>T			B2RCH8|B4DFL7|Q5SZF9|Q659E5|Q6P4E0|Q8N654|Q96JU5|Q9C071|Q9C072|Q9UIV0	RNA	SNP	-	NULL	ENST00000271620.3	37	NULL	CCDS977.1	1																																																																																			PRUNE	-	-	ENSG00000143363		0.726	PRUNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRUNE	HGNC	protein_coding	OTTHUMT00000084885.1	-	0.00	32	0	C	NM_021222		150980967	+1	tier1	-	no_errors	ENST00000462440	ensembl	human	known	74_37	rna	35.29	21	12	SNP	0.000	T
PSIP1	11168	genome.wustl.edu	37	9	15472611	15472612	+	Intron	INS	-	-	AA	rs113876575|rs201263257		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr9:15472611_15472612insAA	ENST00000380733.4	-	10	1321				PSIP1_ENST00000397519.2_Intron|PSIP1_ENST00000380715.1_Intron|PSIP1_ENST00000380716.4_Intron|PSIP1_ENST00000380738.4_Intron			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1						establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CCAAAATTTAGAAAAAAAAAAA	0.342																																																	0																																										SO:0001627	intron_variant	0			AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.977+17->TT	9.37:g.15472620_15472621dupAA			D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	RNA	INS	-	NULL	ENST00000380733.4	37	NULL	CCDS6479.1	9																																																																																			PSIP1	-	-	ENSG00000164985		0.342	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PSIP1	HGNC	protein_coding	OTTHUMT00000055445.1		0.00	12	0	-	NM_033222		15472612	-1	tier1		no_errors	ENST00000495873	ensembl	human	known	74_37	rna	10.53	34	4	INS	0.001:0.001	AA
PTPN3	5774	genome.wustl.edu	37	9	112207526	112207526	+	Missense_Mutation	SNP	C	C	T	rs138810032	byFrequency	TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr9:112207526C>T	ENST00000374541.2	-	7	564	c.460G>A	c.(460-462)Gta>Ata	p.V154I	PTPN3_ENST00000446349.1_Missense_Mutation_p.V23I|PTPN3_ENST00000412145.1_Missense_Mutation_p.V23I|PTPN3_ENST00000262539.3_Missense_Mutation_p.V45I	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	154	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TTACATTGTACGGCATAGGAC	0.463													C|||	2	0.000399361	0.0	0.0	5008	,	,		20168	0.0		0.0	False		,,,				2504	0.002																0								C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	182.0	136.0	152.0		460,67,67,460	5.6	1.0	9	dbSNP_134	152	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense,missense,missense	PTPN3	NM_001145368.1,NM_001145369.1,NM_001145370.1,NM_002829.3	29,29,29,29	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	154/869,23/783,23/738,154/914	112207526	6,13000	2203	4300	6503	SO:0001583	missense	0				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.460G>A	9.37:g.112207526C>T	ENSP00000363667:p.Val154Ile		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.V154I	ENST00000374541.2	37	c.460	CCDS6776.1	9	.	.	.	.	.	.	.	.	.	.	C	32	5.164963	0.94727	0.0	6.98E-4	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000262539	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.58	5.58	0.84498	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.85305	0.5666	L	0.61036	1.89	0.80722	D	1	D;D;P	0.69078	0.997;0.989;0.933	P;P;P	0.59643	0.833;0.861;0.692	D	0.85958	0.1468	10	0.66056	D	0.02	.	18.716	0.91675	0.0:1.0:0.0:0.0	.	45;154;154	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	I	154;23;23;154;45	ENSP00000416654:V23I;ENSP00000395384:V23I;ENSP00000363667:V154I;ENSP00000262539:V45I	ENSP00000262539:V45I	V	-	1	0	PTPN3	111247347	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.024000	0.70857	2.782000	0.95742	0.655000	0.94253	GTA	PTPN3	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain	ENSG00000070159		0.463	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN3	HGNC	protein_coding	OTTHUMT00000053598.4	-	0.00	63	0	C			112207526	-1	tier1	rs138810032	no_errors	ENST00000374541	ensembl	human	known	74_37	missense	5.81	81	5	SNP	1.000	T
PTPRH	5794	genome.wustl.edu	37	19	55708723	55708723	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:55708723C>A	ENST00000376350.3	-	9	1774	c.1752G>T	c.(1750-1752)tgG>tgT	p.W584C	PTPRH_ENST00000263434.5_Missense_Mutation_p.W406C|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	584	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GGGCCTTCCACCACAGCATGA	0.552																																																	0													70.0	73.0	72.0					19																	55708723		2203	4300	6503	SO:0001583	missense	0				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1752G>T	19.37:g.55708723C>A	ENSP00000365528:p.Trp584Cys		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.W584C	ENST00000376350.3	37	c.1752	CCDS33110.1	19	.	.	.	.	.	.	.	.	.	.	C	8.356	0.831907	0.16820	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.56941	0.43;0.43	5.18	-1.6	0.08426	Fibronectin, type III (4);Immunoglobulin-like fold (1);	2.685280	0.01609	N	0.022436	T	0.42988	0.1227	L	0.36672	1.1	0.24623	N	0.993665	B;B;B	0.10296	0.001;0.0;0.003	B;B;B	0.14023	0.01;0.006;0.006	T	0.37731	-0.9693	10	0.56958	D	0.05	.	6.0569	0.19816	0.0:0.3479:0.4637:0.1884	.	406;406;584	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	C	584;406	ENSP00000365528:W584C;ENSP00000263434:W406C	ENSP00000263434:W406C	W	-	3	0	PTPRH	60400535	0.000000	0.05858	0.046000	0.18839	0.018000	0.09664	-2.848000	0.00733	-0.014000	0.14175	-0.136000	0.14681	TGG	PTPRH	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000080031		0.552	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	HGNC	protein_coding	OTTHUMT00000452649.1	-	0.00	65	0	C			55708723	-1	tier1	-	no_errors	ENST00000376350	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.032	A
RABGAP1	23637	genome.wustl.edu	37	9	125827752	125827753	+	Intron	INS	-	-	A	rs372161397|rs3214358|rs374713384		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr9:125827752_125827753insA	ENST00000373647.4	+	14	2042				RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1						cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TATTTCATGTCAAAAAAAAAAA	0.347																																																	0																																										SO:0001627	intron_variant	0			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1908+12->A	9.37:g.125827763_125827763dupA			B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Frame_Shift_Ins	INS	pfam_Kinesin-like,pfam_Rab-GTPase-TBC_dom,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.K576fs	ENST00000373647.4	37	c.1716_1717	CCDS6848.2	9																																																																																			RABGAP1	-	pfscan_Rab-GTPase-TBC_dom	ENSG00000011454		0.347	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1	HGNC	protein_coding	OTTHUMT00000053976.3		0.00	39	0	-	NM_012197		125827753	+1	tier1		no_errors	ENST00000456584	ensembl	human	known	74_37	frame_shift_ins	9.09	40	4	INS	0.000:0.000	A
RAPGEF4	11069	genome.wustl.edu	37	2	173883429	173883429	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:173883429G>A	ENST00000397081.3	+	22	2197	c.2054G>A	c.(2053-2055)cGg>cAg	p.R685Q	RAPGEF4_ENST00000538974.1_Missense_Mutation_p.R514Q|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.R541Q|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.R532Q|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.R684Q|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.R465Q|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.R685Q|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.R532Q	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	685					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			ACAACCATTCGGGTGCCAGTG	0.483																																																	0													96.0	103.0	101.0					2																	173883429		2044	4201	6245	SO:0001583	missense	0			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2054G>A	2.37:g.173883429G>A	ENSP00000380271:p.Arg685Gln		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.R685Q	ENST00000397081.3	37	c.2054	CCDS42775.1	2	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928177	0.92389	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187	T;T;T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22	5.73	5.73	0.89815	Ras-association (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.32585	0.0834	L	0.58428	1.81	0.80722	D	1	P;P	0.52577	0.87;0.954	B;P	0.52514	0.179;0.701	T	0.00430	-1.1744	10	0.41790	T	0.15	.	19.9036	0.96999	0.0:0.0:1.0:0.0	.	541;685	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	Q	684;685;685;541;514;532;532;465	ENSP00000264111:R684Q;ENSP00000380271:R685Q;ENSP00000387104:R685Q;ENSP00000380276:R541Q;ENSP00000440135:R514Q;ENSP00000440250:R532Q;ENSP00000437384:R532Q;ENSP00000438011:R465Q	ENSP00000264111:R684Q	R	+	2	0	RAPGEF4	173591675	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	9.476000	0.97823	2.706000	0.92434	0.655000	0.94253	CGG	RAPGEF4	-	pfam_Ras-assoc,superfamily_Ras_GEF_dom	ENSG00000091428		0.483	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	HGNC	protein_coding	OTTHUMT00000257864.2	-	0.00	28	0	G	NM_007023		173883429	+1	tier1	-	no_errors	ENST00000397081	ensembl	human	known	74_37	missense	35.71	18	10	SNP	1.000	A
RASGEF1A	221002	genome.wustl.edu	37	10	43701554	43701554	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr10:43701554G>A	ENST00000395809.1	-	2	2517	c.11C>T	c.(10-12)aCg>aTg	p.T4M	RASGEF1A_ENST00000472864.1_5'Flank|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.T4M|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.T12M			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	4					cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						GACAACGGACGTCTGGGGCAT	0.657																																																	0													31.0	39.0	36.0					10																	43701554		2193	4291	6484	SO:0001583	missense	0			AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.11C>T	10.37:g.43701554G>A	ENSP00000379154:p.Thr4Met		Q8TBF1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.T4M	ENST00000395809.1	37	c.11	CCDS7202.2	10	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220797	0.79464	.	.	ENSG00000198915	ENST00000374459;ENST00000395810;ENST00000395809	T;T;T	0.72615	-0.67;-0.63;-0.63	5.49	4.55	0.56014	.	0.084789	0.50627	D	0.000101	T	0.79167	0.4400	L	0.47190	1.495	0.47862	D	0.999536	D;D	0.89917	1.0;1.0	D;D	0.69824	0.926;0.966	T	0.81206	-0.1038	10	0.87932	D	0	.	15.7015	0.77544	0.0:0.0:0.8627:0.1373	.	4;12	Q8N9B8;Q8N9B8-2	RGF1A_HUMAN;.	M	12;4;4	ENSP00000363583:T12M;ENSP00000379155:T4M;ENSP00000379154:T4M	ENSP00000363583:T12M	T	-	2	0	RASGEF1A	43021560	1.000000	0.71417	0.956000	0.39512	0.833000	0.47200	7.170000	0.77587	2.590000	0.87494	0.655000	0.94253	ACG	RASGEF1A	-	NULL	ENSG00000198915		0.657	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	RASGEF1A	HGNC	protein_coding	OTTHUMT00000313989.1	-	0.00	36	0	G	NM_145313		43701554	-1	tier1	-	no_errors	ENST00000395809	ensembl	human	known	74_37	missense	38.46	22	15	SNP	0.999	A
RAVER1	125950	genome.wustl.edu	37	19	10439552	10439552	+	Silent	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:10439552G>T	ENST00000293677.6	-	3	654	c.573C>A	c.(571-573)ggC>ggA	p.G191G		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	174	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CAAAGCCATAGCCCTTGGATT	0.632																																																	0													33.0	38.0	36.0					19																	10439552		2108	4234	6342	SO:0001819	synonymous_variant	0				CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.573C>A	19.37:g.10439552G>T			A6NMU4|Q8IY60|Q8TF24	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G191	ENST00000293677.6	37	c.573	CCDS45960.1	19																																																																																			RAVER1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000161847		0.632	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAVER1	HGNC	protein_coding	OTTHUMT00000451227.1		0.00	65	0	G	NM_133452		10439552	-1			no_errors	ENST00000293677	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.999	T
RBMXL2	27288	genome.wustl.edu	37	11	7111345	7111345	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:7111345C>T	ENST00000306904.5	+	1	1181	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	332	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGTTATGGCCGGAGCGACCG	0.647																																																	0													20.0	21.0	21.0					11																	7111345		2197	4290	6487	SO:0001583	missense	0			AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.994C>T	11.37:g.7111345C>T	ENSP00000304139:p.Arg332Trp		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.R332W	ENST00000306904.5	37	c.994	CCDS7777.1	11	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730029	0.69074	.	.	ENSG00000170748	ENST00000306904	T	0.80304	-1.36	3.73	3.73	0.42828	.	0.000000	0.64402	U	0.000001	D	0.85873	0.5798	M	0.62723	1.935	0.46631	D	0.999139	D	0.89917	1.0	D	0.87578	0.998	D	0.85853	0.1405	10	0.66056	D	0.02	.	8.8356	0.35111	0.2239:0.7761:0.0:0.0	.	332	O75526	HNRGT_HUMAN	W	332	ENSP00000304139:R332W	ENSP00000304139:R332W	R	+	1	2	RBMXL2	7067921	1.000000	0.71417	0.986000	0.45419	0.856000	0.48823	1.425000	0.34859	2.365000	0.80145	0.563000	0.77884	CGG	RBMXL2	-	NULL	ENSG00000170748		0.647	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL2	HGNC	protein_coding	OTTHUMT00000384552.1	-	0.00	38	0	C	NM_014469		7111345	+1	tier1	-	no_errors	ENST00000306904	ensembl	human	known	74_37	missense	19.05	17	4	SNP	1.000	T
REG1P	5969	genome.wustl.edu	37	2	79364421	79364421	+	RNA	SNP	C	C	G			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:79364421C>G	ENST00000444841.1	-	0	213									regenerating islet-derived 1 pseudogene																		CTGGTGCCTTCTGGGCAGCTG	0.522																																																	0																																												0					2p12	2008-06-04	2008-06-04	2008-06-04	ENSG00000204787	ENSG00000204787			9953	pseudogene	pseudogene			"""rat regenerating islet-derived-like, human homolog (pancreatic stone protein-like, pancreatic thread protein-like)"", ""regenerating islet-derived-like, pancreatic stone protein-like, pancreatic thread protein-like (rat)"""	REGL		8333731	Standard	NR_002714		Approved	RS	uc002soc.1		OTTHUMG00000152978		2.37:g.79364421C>G				RNA	SNP	-	NULL	ENST00000444841.1	37	NULL		2																																																																																			REG1P	-	-	ENSG00000204787		0.522	REG1P-002	KNOWN	basic	processed_transcript	REG1P	HGNC	pseudogene	OTTHUMT00000328851.1	-	0.00	52	0	C	NR_002714		79364421	-1	tier1	-	no_errors	ENST00000377435	ensembl	human	known	74_37	rna	25.53	70	24	SNP	0.003	G
RLF	6018	genome.wustl.edu	37	1	40705442	40705442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:40705442C>T	ENST00000372771.4	+	8	5095	c.5068C>T	c.(5068-5070)Cag>Tag	p.Q1690*		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1690					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TAATATAGTTCAGCCTCCTCC	0.403																																																	0													69.0	70.0	70.0					1																	40705442		2203	4300	6503	SO:0001587	stop_gained	0				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.5068C>T	1.37:g.40705442C>T	ENSP00000361857:p.Gln1690*		Q14CQ1|Q9NU60	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q1690*	ENST00000372771.4	37	c.5068	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.073015	0.98640	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	.	.	.	5.78	4.82	0.62117	.	0.198942	0.41712	D	0.000836	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-3.4851	17.3344	0.87276	0.0:0.8181:0.1819:0.0	.	.	.	.	X	1690;1383	.	ENSP00000361857:Q1690X	Q	+	1	0	RLF	40478029	0.994000	0.37717	1.000000	0.80357	0.900000	0.52787	1.679000	0.37597	2.890000	0.99128	0.655000	0.94253	CAG	RLF	-	NULL	ENSG00000117000		0.403	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	-	0.00	56	0	C	NM_012421		40705442	+1	tier1	-	no_errors	ENST00000372771	ensembl	human	known	74_37	nonsense	20.51	31	8	SNP	1.000	T
RNF180	285671	genome.wustl.edu	37	5	63509747	63509747	+	Silent	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr5:63509747G>T	ENST00000389100.4	+	4	666	c.594G>T	c.(592-594)ctG>ctT	p.L198L	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Silent_p.L198L	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	198					adult behavior (GO:0030534)|norepinephrine metabolic process (GO:0042415)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|regulation of catalytic activity (GO:0050790)|serotonin metabolic process (GO:0042428)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		ACGAAAAACTGCTGTCCAAAG	0.418																																																	0													57.0	64.0	61.0					5																	63509747		2203	4300	6503	SO:0001819	synonymous_variant	0			AK090756	CCDS34169.1, CCDS47219.1	5q12.3	2013-01-09			ENSG00000164197	ENSG00000164197		"""RING-type (C3HC4) zinc fingers"""	27752	protein-coding gene	gene with protein product							Standard	NM_178532		Approved		uc003jti.3	Q86T96	OTTHUMG00000162278	ENST00000389100.4:c.594G>T	5.37:g.63509747G>T			Q0JSU3|Q495A8|Q8NBD1	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L198	ENST00000389100.4	37	c.594	CCDS47219.1	5																																																																																			RNF180	-	NULL	ENSG00000164197		0.418	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF180	HGNC	protein_coding	OTTHUMT00000368394.1		0.00	51	0	G	NM_178532		63509747	+1			no_errors	ENST00000389100	ensembl	human	known	74_37	silent	6.45	29	2	SNP	1.000	T
RPL31P11	641311	genome.wustl.edu	37	1	161654571	161654572	+	RNA	INS	-	-	T	rs36089916	byFrequency	TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:161654571_161654572insT	ENST00000426558.1	-	0	470_471					NR_002595.1				ribosomal protein L31 pseudogene 11																		GAACCTATGTCTTTTTTTTTTT	0.322													|||unknown(HR)	1686	0.336661	0.2595	0.4294	5008	,	,		18871	0.4306		0.2813	False		,,,				2504	0.3354																0																																												0					1q23.3	2010-06-16			ENSG00000213075	ENSG00000213075			35849	pseudogene	pseudogene						19123937	Standard	NR_002595		Approved		uc001gbc.3		OTTHUMG00000034536		1.37:g.161654582_161654582dupT				RNA	INS	-	NULL	ENST00000426558.1	37	NULL		1																																																																																			RPL31P11	-	-	ENSG00000213075		0.322	RPL31P11-002	KNOWN	basic	processed_transcript	RPL31P11	HGNC	pseudogene	OTTHUMT00000347090.2		0.00	8	0	-	NR_002595		161654572	-1	tier1		no_errors	ENST00000426558	ensembl	human	known	74_37	rna	30.77	9	4	INS	0.140:0.150	T
RPL31P11	641311	genome.wustl.edu	37	1	161654572	161654572	+	RNA	DEL	T	T	-			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:161654572delT	ENST00000426558.1	-	0	470					NR_002595.1				ribosomal protein L31 pseudogene 11																		AACCTATGTCTTTTTTTTTTT	0.318																																																	0																																												0					1q23.3	2010-06-16			ENSG00000213075	ENSG00000213075			35849	pseudogene	pseudogene						19123937	Standard	NR_002595		Approved		uc001gbc.3		OTTHUMG00000034536		1.37:g.161654572delT				RNA	DEL	-	NULL	ENST00000426558.1	37	NULL		1																																																																																			RPL31P11	-	-	ENSG00000213075		0.318	RPL31P11-002	KNOWN	basic	processed_transcript	RPL31P11	HGNC	pseudogene	OTTHUMT00000347090.2		0.00	8	0	T	NR_002595		161654572	-1	tier1		no_errors	ENST00000426558	ensembl	human	known	74_37	rna	23.08	10	3	DEL	0.150	-
RXRA	6256	genome.wustl.edu	37	9	137331938	137331938	+	3'UTR	DEL	A	A	-	rs369993354		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr9:137331938delA	ENST00000356384.4	+	0	5277							P19793	RXRA_HUMAN	retinoid X receptor, alpha						camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	CTGGAAAGGTAAAAAAAAAAA	0.378																																																	0																																										SO:0001624	3_prime_UTR_variant	0			X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000356384.4:c.*5274A>-	9.37:g.137331938delA			B3KY83|Q2NL52|Q2V504	RNA	DEL	-	NULL	ENST00000356384.4	37	NULL		9																																																																																			RXRA	-	-	ENSG00000186350		0.378	RXRA-001	KNOWN	basic	processed_transcript	RXRA	HGNC	protein_coding	OTTHUMT00000054948.1		0.00	30	0	A	NM_002957		137331938	+1	tier1		no_errors	ENST00000356384	ensembl	human	known	74_37	rna	20.00	24	6	DEL	0.998	-
SCAF11	9169	genome.wustl.edu	37	12	46321902	46321902	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr12:46321902G>T	ENST00000369367.3	-	11	1815	c.1582C>A	c.(1582-1584)Cag>Aag	p.Q528K	SCAF11_ENST00000549162.1_Missense_Mutation_p.Q336K|SCAF11_ENST00000419565.2_Missense_Mutation_p.Q528K|SCAF11_ENST00000465950.1_Missense_Mutation_p.Q213K	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	528					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CCAGATATCTGGTCTTGCTTT	0.353																																																	0													107.0	99.0	102.0					12																	46321902		2203	4300	6503	SO:0001583	missense	0			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.1582C>A	12.37:g.46321902G>T	ENSP00000358374:p.Gln528Lys		A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.Q528K	ENST00000369367.3	37	c.1582	CCDS8748.2	12	.	.	.	.	.	.	.	.	.	.	G	0.329	-0.957396	0.02267	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.42513	1.55;2.3;1.55;2.3;0.97	5.97	3.87	0.44632	.	0.376195	0.25180	N	0.032527	T	0.29223	0.0727	L	0.31926	0.97	0.09310	N	1	B;B	0.19583	0.037;0.012	B;B	0.18561	0.022;0.007	T	0.14868	-1.0457	10	0.10111	T	0.7	-0.9035	12.5955	0.56468	0.0:0.0:0.5976:0.4024	.	336;528	F8VXG7;Q99590	.;SCAFB_HUMAN	K	213;528;336;528;468	ENSP00000449812:Q213K;ENSP00000358374:Q528K;ENSP00000448864:Q336K;ENSP00000413036:Q528K;ENSP00000446746:Q468K	ENSP00000358374:Q528K	Q	-	1	0	SCAF11	44608169	0.995000	0.38212	0.629000	0.29254	0.156000	0.22039	1.131000	0.31406	1.359000	0.45940	0.655000	0.94253	CAG	SCAF11	-	NULL	ENSG00000139218		0.353	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF11	HGNC	protein_coding	OTTHUMT00000313992.2	-	0.00	59	0	G	NM_004719		46321902	-1	tier1	-	no_errors	ENST00000369367	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.370	T
SCNN1B	6338	genome.wustl.edu	37	16	23360218	23360218	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr16:23360218G>T	ENST00000343070.2	+	2	474	c.298G>T	c.(298-300)Gct>Tct	p.A100S	SCNN1B_ENST00000568085.1_Missense_Mutation_p.A100S|SCNN1B_ENST00000568923.1_Missense_Mutation_p.A100S|SCNN1B_ENST00000307331.5_Missense_Mutation_p.A145S|SCNN1B_ENST00000569789.1_3'UTR	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	100					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CATCTGCAATGCTAGCCCCTT	0.562																																																	0													63.0	57.0	59.0					16																	23360218		2197	4300	6497	SO:0001583	missense	0			X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.298G>T	16.37:g.23360218G>T	ENSP00000345751:p.Ala100Ser		C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.A145S	ENST00000343070.2	37	c.433	CCDS10609.1	16	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287543	0.40494	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.62941	-0.01;-0.01	4.92	-1.47	0.08772	.	0.559260	0.17747	N	0.163366	T	0.30978	0.0782	N	0.02539	-0.55	0.27102	N	0.962608	B	0.16166	0.016	B	0.19666	0.026	T	0.22347	-1.0219	10	0.39692	T	0.17	-17.5688	8.3473	0.32281	0.0734:0.0:0.412:0.5146	.	100	P51168	SCNNB_HUMAN	S	100;145	ENSP00000345751:A100S;ENSP00000302874:A145S	ENSP00000302874:A145S	A	+	1	0	SCNN1B	23267719	0.859000	0.29813	0.868000	0.34077	0.993000	0.82548	1.123000	0.31308	-0.168000	0.10853	0.561000	0.74099	GCT	SCNN1B	-	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	ENSG00000168447		0.562	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1B	HGNC	protein_coding	OTTHUMT00000254495.2	-	0.00	18	0	G			23360218	+1	tier1	-	no_errors	ENST00000307331	ensembl	human	known	74_37	missense	35.48	20	11	SNP	0.748	T
SDCBP	6386	genome.wustl.edu	37	8	59493135	59493135	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr8:59493135G>T	ENST00000260130.4	+	8	960	c.810G>T	c.(808-810)atG>atT	p.M270I	SDCBP_ENST00000523483.1_Missense_Mutation_p.M290I|SDCBP_ENST00000447182.2_Missense_Mutation_p.M269I|SDCBP_ENST00000413219.2_Missense_Mutation_p.M270I|SDCBP_ENST00000447267.2_Missense_Mutation_p.M216I|SDCBP_ENST00000424270.2_Missense_Mutation_p.M264I|SDCBP_ENST00000422546.2_Missense_Mutation_p.M269I|SDCBP_ENST00000520168.1_Missense_Mutation_p.M211I	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	270	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268)	adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545)			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TTACAATCATGCCTGCTTTTA	0.313																																																	0													95.0	88.0	90.0					8																	59493135		2203	4296	6499	SO:0001583	missense	0			AF000652	CCDS6172.1, CCDS47862.1, CCDS47863.1	8q12.1	2012-12-04			ENSG00000137575	ENSG00000137575			10662	protein-coding gene	gene with protein product		602217				9391086	Standard	NM_001007067		Approved	SYCL	uc003xtq.3	O00560	OTTHUMG00000164303	ENST00000260130.4:c.810G>T	8.37:g.59493135G>T	ENSP00000260130:p.Met270Ile		B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.M270I	ENST00000260130.4	37	c.810	CCDS6172.1	8	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048960	0.36181	.	.	ENSG00000137575	ENST00000260130;ENST00000422546;ENST00000447182;ENST00000413219;ENST00000424270;ENST00000523483;ENST00000520168;ENST00000447267	T;T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71	5.53	5.53	0.82687	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.23210	0.0561	N	0.20845	0.615	0.80722	D	1	B;B;B;B	0.32324	0.004;0.364;0.043;0.026	B;B;B;B	0.38378	0.012;0.272;0.091;0.111	T	0.04229	-1.0967	9	.	.	.	-26.504	19.8372	0.96661	0.0:0.0:1.0:0.0	.	211;290;264;270	B4DHN5;G5EA09;O00560-3;O00560	.;.;.;SDCB1_HUMAN	I	270;269;269;270;264;290;211;216	ENSP00000260130:M270I;ENSP00000391687:M269I;ENSP00000409288:M269I;ENSP00000411771:M270I;ENSP00000395351:M264I;ENSP00000428184:M290I;ENSP00000430730:M211I;ENSP00000397820:M216I	.	M	+	3	0	SDCBP	59655689	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.795000	0.85887	2.770000	0.95276	0.655000	0.94253	ATG	SDCBP	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000137575		0.313	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDCBP	HGNC	protein_coding	OTTHUMT00000378193.1		0.00	41	0	G	NM_005625		59493135	+1			no_errors	ENST00000260130	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T
SEC16A	9919	genome.wustl.edu	37	9	139341801	139341801	+	Missense_Mutation	SNP	C	C	G			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr9:139341801C>G	ENST00000371706.3	-	25	6074	c.6041G>C	c.(6040-6042)cGc>cCc	p.R2014P	SEC16A_ENST00000398335.1_3'UTR|SEC16A_ENST00000431893.2_Missense_Mutation_p.R2014P|SEC16A_ENST00000313050.7_Missense_Mutation_p.R2192P|SEC16A_ENST00000313084.5_Missense_Mutation_p.R198P|SEC16A_ENST00000290037.6_Missense_Mutation_p.R2014P			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2014	Pro-rich.|Required for interaction with SEC23A.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GTCAACGTAGCGAGCTCTGGT	0.617																																																	0													20.0	26.0	24.0					9																	139341801		2111	4201	6312	SO:0001583	missense	0			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.6041G>C	9.37:g.139341801C>G	ENSP00000360771:p.Arg2014Pro		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.R2192P	ENST00000371706.3	37	c.6575		9	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147428	0.57151	.	.	ENSG00000148396	ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000313084;ENST00000537660;ENST00000290037;ENST00000431893;ENST00000404925;ENST00000398348	T;T;T;T;T;T	0.52526	1.63;0.66;1.24;1.66;1.59;1.65	5.26	5.26	0.73747	.	0.056123	0.64402	D	0.000001	T	0.74921	0.3780	M	0.89601	3.045	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.995;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.999;0.953;0.994;0.996;0.985;0.99;0.998;0.996;0.999	T	0.77877	-0.2424	10	0.44086	T	0.13	-25.1813	18.2057	0.89853	0.0:1.0:0.0:0.0	.	33;2192;2014;2014;1582;2014;550;198;33	B4DY06;F1T0I1;O15027-5;O15027-4;A4QN19;O15027;C9JVR0;Q8N9G1;F6VLX6	.;.;.;.;.;SC16A_HUMAN;.;.;.	P	2192;586;914;2014;198;33;2014;2014;1582;550	ENSP00000325827:R2192P;ENSP00000277537:R586P;ENSP00000403525:R914P;ENSP00000360771:R2014P;ENSP00000290037:R2014P;ENSP00000387583:R2014P	ENSP00000277537:R586P	R	-	2	0	SEC16A	138461622	1.000000	0.71417	0.993000	0.49108	0.176000	0.22953	5.261000	0.65496	2.618000	0.88619	0.455000	0.32223	CGC	SEC16A	-	NULL	ENSG00000148396		0.617	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	-	0.00	27	0	C	XM_088459		139341801	-1	tier1	-	no_errors	ENST00000313050	ensembl	human	known	74_37	missense	18.18	35	8	SNP	1.000	G
SEC63	11231	genome.wustl.edu	37	6	108214708	108214708	+	Missense_Mutation	SNP	T	T	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr6:108214708T>A	ENST00000369002.4	-	16	1831	c.1652A>T	c.(1651-1653)cAg>cTg	p.Q551L		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	551					liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TCCATTTGCCTGCTTTTGTTT	0.313																																																	0													140.0	136.0	137.0					6																	108214708		2203	4300	6503	SO:0001583	missense	0			BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1652A>T	6.37:g.108214708T>A	ENSP00000357998:p.Gln551Leu		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ARM-type_fold,smart_DnaJ_domain,smart_Sec63-dom,prints_DnaJ_domain,pfscan_DnaJ_domain	p.Q551L	ENST00000369002.4	37	c.1652	CCDS5061.1	6	.	.	.	.	.	.	.	.	.	.	T	15.45	2.836244	0.50951	.	.	ENSG00000025796	ENST00000369002;ENST00000437345	T	0.70045	-0.45	5.38	5.38	0.77491	Sec63 domain (2);	0.000000	0.85682	D	0.000000	T	0.68970	0.3059	L	0.50333	1.59	0.80722	D	1	P;D	0.54601	0.558;0.967	B;D	0.65140	0.109;0.932	T	0.67284	-0.5709	10	0.31617	T	0.26	-10.248	15.6841	0.77396	0.0:0.0:0.0:1.0	.	551;551	Q9UGP8;B3KQF0	SEC63_HUMAN;.	L	551;202	ENSP00000357998:Q551L	ENSP00000357998:Q551L	Q	-	2	0	SEC63	108321401	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.934000	0.70138	2.162000	0.67917	0.460000	0.39030	CAG	SEC63	-	superfamily_ARM-type_fold,smart_Sec63-dom	ENSG00000025796		0.313	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC63	HGNC	protein_coding	OTTHUMT00000041705.4		0.00	40	0	T	NM_007214		108214708	-1			no_errors	ENST00000369002	ensembl	human	known	74_37	missense	6.19	91	6	SNP	1.000	A
SECISBP2	79048	genome.wustl.edu	37	9	91965627	91965627	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr9:91965627G>A	ENST00000375807.3	+	14	2044	c.1973G>A	c.(1972-1974)cGt>cAt	p.R658H	SECISBP2_ENST00000339901.4_Missense_Mutation_p.R585H|SECISBP2_ENST00000534113.2_Missense_Mutation_p.R590H	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	658					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						TTCCAAGACCGTATGTACCAG	0.443																																																	0													227.0	196.0	207.0					9																	91965627		2203	4300	6503	SO:0001583	missense	0			AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1973G>A	9.37:g.91965627G>A	ENSP00000364965:p.Arg658His		F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.R658H	ENST00000375807.3	37	c.1973	CCDS6683.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.412988	0.96072	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.58358	0.34;0.34;0.34	4.84	4.84	0.62591	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.056458	0.64402	D	0.000001	T	0.75110	0.3805	M	0.85197	2.74	0.58432	D	0.999999	D;D;D	0.69078	0.978;0.996;0.997	P;P;D	0.65987	0.855;0.819;0.94	T	0.79869	-0.1621	10	0.87932	D	0	-13.9231	18.4955	0.90864	0.0:0.0:1.0:0.0	.	665;585;658	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	H	658;664;585;590	ENSP00000364965:R658H;ENSP00000364959:R585H;ENSP00000436650:R590H	ENSP00000364959:R585H	R	+	2	0	SECISBP2	91155447	1.000000	0.71417	0.963000	0.40424	0.997000	0.91878	9.255000	0.95524	2.686000	0.91538	0.561000	0.74099	CGT	SECISBP2	-	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	ENSG00000187742		0.443	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SECISBP2	HGNC	protein_coding	OTTHUMT00000052990.3	-	0.00	77	0	G	NM_024077		91965627	+1	tier1	-	no_errors	ENST00000375807	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	A
SEZ6L	23544	genome.wustl.edu	37	22	26706706	26706706	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr22:26706706C>A	ENST00000248933.6	+	7	1680	c.1585C>A	c.(1585-1587)Cct>Act	p.P529T	SEZ6L_ENST00000402979.1_Missense_Mutation_p.P302T|SEZ6L_ENST00000403121.1_Missense_Mutation_p.P302T|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P529T|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P529T|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P529T|SEZ6L_ENST00000529632.2_Missense_Mutation_p.P529T			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	529	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CGAGAGTGTCCCTTTTGAGGG	0.587																																																	0													156.0	121.0	133.0					22																	26706706		2203	4300	6503	SO:0001583	missense	0			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1585C>A	22.37:g.26706706C>A	ENSP00000248933:p.Pro529Thr		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.P529T	ENST00000248933.6	37	c.1585	CCDS13833.1	22	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843340	0.71488	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.04	5.04	0.67666	CUB (5);	0.000000	0.56097	D	0.000029	T	0.63010	0.2475	M	0.79123	2.44	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.999;1.0;1.0	T	0.67821	-0.5571	10	0.87932	D	0	.	17.7618	0.88466	0.0:1.0:0.0:0.0	.	529;529;302;529;529;529;529	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	T	529;529;529;529;529;302;302	ENSP00000384772:P529T;ENSP00000437037:P529T;ENSP00000354185:P529T;ENSP00000248933:P529T;ENSP00000342661:P529T;ENSP00000384838:P302T;ENSP00000384733:P302T	ENSP00000248933:P529T	P	+	1	0	SEZ6L	25036706	1.000000	0.71417	1.000000	0.80357	0.347000	0.29111	7.164000	0.77533	2.507000	0.84556	0.561000	0.74099	CCT	SEZ6L	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000100095		0.587	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	HGNC	protein_coding	OTTHUMT00000320359.3	-	0.00	33	0	C			26706706	+1	tier1	-	no_errors	ENST00000248933	ensembl	human	known	74_37	missense	15.15	28	5	SNP	1.000	A
SHMT2	6472	genome.wustl.edu	37	12	57627083	57627083	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr12:57627083delC	ENST00000328923.3	+	8	1430	c.978delC	c.(976-978)ggcfs	p.G326fs	SHMT2_ENST00000393827.4_Frame_Shift_Del_p.G230fs|SHMT2_ENST00000449049.3_Frame_Shift_Del_p.G305fs|SHMT2_ENST00000414700.3_Frame_Shift_Del_p.G305fs|SHMT2_ENST00000557487.1_Frame_Shift_Del_p.G316fs|SHMT2_ENST00000553474.1_Frame_Shift_Del_p.G305fs	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	326					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	TGCAGGGGGGCCCCCACAATC	0.587																																					Esophageal Squamous(150;1369 2416 49071 49364)												0													51.0	54.0	53.0					12																	57627083		2203	4300	6503	SO:0001589	frameshift_variant	0			AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.978delC	12.37:g.57627083delC	ENSP00000333667:p.Gly326fs		B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Frame_Shift_Del	DEL	pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase	p.H328fs	ENST00000328923.3	37	c.978	CCDS8934.1	12																																																																																			SHMT2	-	pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase	ENSG00000182199		0.587	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHMT2	HGNC	protein_coding	OTTHUMT00000412525.2		0.00	45	0	C	NM_005412		57627083	+1	tier1		no_errors	ENST00000328923	ensembl	human	known	74_37	frame_shift_del	10.00	18	2	DEL	0.249	-
SLC13A2	9058	genome.wustl.edu	37	17	26822705	26822705	+	Silent	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr17:26822705G>A	ENST00000314669.5	+	10	1761	c.1341G>A	c.(1339-1341)aaG>aaA	p.K447K	SLC13A2_ENST00000444914.3_Silent_p.K496K|SLC13A2_ENST00000537681.1_Silent_p.K376K|SLC13A2_ENST00000545060.1_Silent_p.K404K	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	447					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TGGGAAACAAGCTGACCCCAC	0.622																																																	0													113.0	87.0	96.0					17																	26822705		2203	4300	6503	SO:0001819	synonymous_variant	0			U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.1341G>A	17.37:g.26822705G>A			B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Silent	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.K496	ENST00000314669.5	37	c.1488	CCDS11231.1	17																																																																																			SLC13A2	-	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	ENSG00000007216		0.622	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A2	HGNC	protein_coding	OTTHUMT00000255722.1		0.00	100	0	G	NM_003984		26822705	+1			no_errors	ENST00000444914	ensembl	human	known	74_37	silent	7.44	112	9	SNP	0.903	A
SLC17A4	10050	genome.wustl.edu	37	6	25769299	25769299	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr6:25769299G>A	ENST00000377905.4	+	3	297	c.178G>A	c.(178-180)Gcc>Acc	p.A60T	SLC17A4_ENST00000397076.2_Missense_Mutation_p.A6T|SLC17A4_ENST00000439485.2_Missense_Mutation_p.A60T	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	60					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTTGAGCATTGCCATCCCAGC	0.502																																																	0													115.0	112.0	113.0					6																	25769299		2203	4300	6503	SO:0001583	missense	0			AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.178G>A	6.37:g.25769299G>A	ENSP00000367137:p.Ala60Thr		B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A60T	ENST00000377905.4	37	c.178	CCDS4564.1	6	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698432	0.68386	.	.	ENSG00000146039	ENST00000377905;ENST00000439485;ENST00000397076	T;T;T	0.80653	0.04;0.21;-1.4	5.32	5.32	0.75619	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.470401	0.18224	N	0.147792	T	0.78027	0.4219	L	0.28694	0.88	0.27357	N	0.956079	D;D	0.76494	0.999;0.973	D;P	0.85130	0.997;0.889	T	0.71045	-0.4706	10	0.31617	T	0.26	.	14.8838	0.70553	0.0:0.0:1.0:0.0	.	60;60	E7EPE8;Q9Y2C5	.;S17A4_HUMAN	T	60;60;6	ENSP00000367137:A60T;ENSP00000391345:A60T;ENSP00000380266:A6T	ENSP00000367137:A60T	A	+	1	0	SLC17A4	25877278	0.939000	0.31865	0.977000	0.42913	0.774000	0.43823	1.337000	0.33862	2.656000	0.90262	0.563000	0.77884	GCC	SLC17A4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000146039		0.502	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A4	HGNC	protein_coding	OTTHUMT00000040068.1	-	0.00	52	0	G			25769299	+1	tier1	-	no_errors	ENST00000377905	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	A
SLC19A1	6573	genome.wustl.edu	37	21	46957744	46957744	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr21:46957744C>A	ENST00000311124.4	-	2	282	c.130G>T	c.(130-132)Ggg>Tgg	p.G44W	SLC19A1_ENST00000380010.4_Missense_Mutation_p.G44W|SLC19A1_ENST00000567670.1_Missense_Mutation_p.G44W	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	44					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	AAGCTCTCCCCTGGCCGTATC	0.687																																																	0													43.0	30.0	34.0					21																	46957744		2198	4298	6496	SO:0001583	missense	0			U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.130G>T	21.37:g.46957744C>A	ENSP00000308895:p.Gly44Trp		B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.G44W	ENST00000311124.4	37	c.130	CCDS13725.1	21	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032706	0.75504	.	.	ENSG00000173638	ENST00000311124;ENST00000380010;ENST00000427839;ENST00000443742;ENST00000528477	T;T;T;T;D	0.86297	-1.45;-1.45;0.27;0.27;-2.1	3.85	3.85	0.44370	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.64402	U	0.000001	D	0.93314	0.7869	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94280	0.7519	10	0.66056	D	0.02	-30.4367	14.7483	0.69505	0.0:1.0:0.0:0.0	.	66;44;44	D3DSM6;E9PFY4;P41440	.;.;S19A1_HUMAN	W	44	ENSP00000308895:G44W;ENSP00000369347:G44W;ENSP00000401850:G44W;ENSP00000411345:G44W;ENSP00000435780:G44W	ENSP00000308895:G44W	G	-	1	0	SLC19A1	45782172	0.996000	0.38824	0.579000	0.28588	0.506000	0.33950	4.480000	0.60243	1.887000	0.54652	0.585000	0.79938	GGG	SLC19A1	-	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	ENSG00000173638		0.687	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A1	HGNC	protein_coding	OTTHUMT00000206796.1	-	0.00	84	0	C			46957744	-1	tier1	-	no_errors	ENST00000311124	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.973	A
SLC22A6	9356	genome.wustl.edu	37	11	62747271	62747271	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:62747271G>T	ENST00000377871.3	-	7	1453	c.1187C>A	c.(1186-1188)cCt>cAt	p.P396H	SLC22A6_ENST00000421062.2_Missense_Mutation_p.P396H|SLC22A6_ENST00000360421.4_Missense_Mutation_p.P396H|SLC22A6_ENST00000458333.2_Missense_Mutation_p.P396H|SLC22A6_ENST00000537349.1_5'Flank	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	396					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CATCTGGGCAGGCCGGCGACC	0.597																																																	0													52.0	51.0	51.0					11																	62747271		2201	4298	6499	SO:0001583	missense	0			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1187C>A	11.37:g.62747271G>T	ENSP00000367102:p.Pro396His		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.P396H	ENST00000377871.3	37	c.1187	CCDS31591.1	11	.	.	.	.	.	.	.	.	.	.	G	13.23	2.176143	0.38413	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	4.49	3.58	0.41010	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.307287	0.35646	N	0.003064	T	0.75568	0.3867	L	0.54965	1.715	0.35062	D	0.761693	D;D;P;P	0.54207	0.965;0.965;0.942;0.929	P;P;P;P	0.60345	0.799;0.799;0.873;0.799	T	0.75508	-0.3293	10	0.15499	T	0.54	.	6.5999	0.22695	0.2113:0.0:0.7887:0.0	.	396;396;396;396	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	H	396;375;396;396;396	ENSP00000353597:P396H;ENSP00000367102:P396H;ENSP00000396401:P396H;ENSP00000404441:P396H	ENSP00000353597:P396H	P	-	2	0	SLC22A6	62503847	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	0.886000	0.28241	1.086000	0.41228	0.511000	0.50034	CCT	SLC22A6	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000197901		0.597	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	SLC22A6	HGNC	protein_coding	OTTHUMT00000396186.1	-	0.00	23	0	G	NM_004790		62747271	-1	tier1	-	no_errors	ENST00000377871	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.984	T
SLC9A6	10479	genome.wustl.edu	37	X	135106542	135106542	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chrX:135106542G>T	ENST00000370698.3	+	12	1455	c.1420G>T	c.(1420-1422)Gca>Tca	p.A474S	SLC9A6_ENST00000370701.1_Missense_Mutation_p.A454S|SLC9A6_ENST00000370695.4_Missense_Mutation_p.A506S	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	474					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGCCACTTATGCACGGCAAAT	0.463																																																	0													303.0	205.0	238.0					X																	135106542		2203	4300	6503	SO:0001583	missense	0			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1420G>T	X.37:g.135106542G>T	ENSP00000359732:p.Ala474Ser		A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.A506S	ENST00000370698.3	37	c.1516	CCDS14654.1	X	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143360	0.57044	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.31510	1.49;1.49;1.49	5.28	5.28	0.74379	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.29288	0.0729	L	0.35723	1.085	0.80722	D	1	B;B	0.19935	0.03;0.04	B;B	0.27608	0.03;0.081	T	0.04427	-1.0952	10	0.37606	T	0.19	.	16.4166	0.83744	0.0:0.0:1.0:0.0	.	506;474	Q92581-2;Q92581	.;SL9A6_HUMAN	S	454;474;506	ENSP00000359735:A454S;ENSP00000359732:A474S;ENSP00000359729:A506S	ENSP00000359729:A506S	A	+	1	0	SLC9A6	134934208	1.000000	0.71417	0.151000	0.22473	0.971000	0.66376	7.646000	0.83445	2.180000	0.69256	0.600000	0.82982	GCA	SLC9A6	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000198689		0.463	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	SLC9A6	HGNC	protein_coding	OTTHUMT00000058450.1	-	0.00	52	0	G	NM_006359		135106542	+1	tier1	-	no_errors	ENST00000370695	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T
SLIT3	6586	genome.wustl.edu	37	5	168201256	168201256	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr5:168201256G>T	ENST00000519560.1	-	13	1698	c.1279C>A	c.(1279-1281)Cag>Aag	p.Q427K	SLIT3_ENST00000404867.3_Missense_Mutation_p.Q427K|SLIT3_ENST00000332966.8_Missense_Mutation_p.Q427K	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	427					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGATGGACTGCAGAGGGGCG	0.567																																					Ovarian(29;311 847 10864 17279 24903)												0													167.0	161.0	163.0					5																	168201256		2203	4300	6503	SO:0001583	missense	0			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1279C>A	5.37:g.168201256G>T	ENSP00000430333:p.Gln427Lys		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.Q427K	ENST00000519560.1	37	c.1279	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496190	0.44352	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.23147	1.92;1.92;1.92	5.5	5.5	0.81552	.	0.156390	0.64402	D	0.000013	T	0.17066	0.0410	N	0.05158	-0.105	0.45962	D	0.998789	P;B;B	0.34615	0.459;0.012;0.002	B;B;B	0.37144	0.242;0.027;0.01	T	0.12967	-1.0527	10	0.26408	T	0.33	.	19.4314	0.94768	0.0:0.0:1.0:0.0	.	427;427;427	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	K	427	ENSP00000430333:Q427K;ENSP00000332164:Q427K;ENSP00000384890:Q427K	ENSP00000332164:Q427K	Q	-	1	0	SLIT3	168133834	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.637000	0.61346	2.588000	0.87417	0.650000	0.86243	CAG	SLIT3	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000184347		0.567	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4		0.00	54	0	G	NM_003062		168201256	-1			no_errors	ENST00000519560	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T
SNHG14	104472715	genome.wustl.edu	37	15	25436407	25436407	+	RNA	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr15:25436407C>T	ENST00000424208.1	+	0	1002				SNORD115-11_ENST00000363616.1_RNA|SNORD115-12_ENST00000362583.1_RNA|SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000363358.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		CAGAGGAAGACTTGCGTTGGG	0.632																																																	0																																												0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25436407C>T				RNA	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			SNHG14	-	-	ENSG00000224078		0.632	SNHG14-002	KNOWN	basic	antisense	SNHG14	HGNC	processed_transcript	OTTHUMT00000126729.2	-	0.00	17	0	C			25436407	+1	tier1	-	no_errors	ENST00000414175	ensembl	human	known	74_37	rna	23.53	26	8	SNP	0.000	T
SORCS3	22986	genome.wustl.edu	37	10	106849543	106849543	+	Missense_Mutation	SNP	G	G	A	rs530482370		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr10:106849543G>A	ENST00000369701.3	+	6	1266	c.1039G>A	c.(1039-1041)Gga>Aga	p.G347R		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	347					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTCGGTGGCCGGATTGGATAA	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		19072	0.0		0.001	False		,,,				2504	0.0				NSCLC(116;1497 1690 7108 13108 14106)												0													101.0	87.0	91.0					10																	106849543		2203	4300	6503	SO:0001583	missense	0			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1039G>A	10.37:g.106849543G>A	ENSP00000358715:p.Gly347Arg		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.G347R	ENST00000369701.3	37	c.1039	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	G	15.16	2.752424	0.49362	.	.	ENSG00000156395	ENST00000369701	T	0.40225	1.04	6.17	5.27	0.74061	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.44286	0.1286	M	0.80746	2.51	0.41720	D	0.989507	P	0.47302	0.893	B	0.38428	0.273	T	0.53927	-0.8369	10	0.54805	T	0.06	.	11.7244	0.51702	0.0806:0.0:0.9194:0.0	.	347	Q9UPU3	SORC3_HUMAN	R	347	ENSP00000358715:G347R	ENSP00000358715:G347R	G	+	1	0	SORCS3	106839533	1.000000	0.71417	0.395000	0.26283	0.823000	0.46562	5.903000	0.69877	1.626000	0.50381	0.655000	0.94253	GGA	SORCS3	-	smart_VPS10	ENSG00000156395		0.582	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	-	0.00	24	0	G	NM_014978		106849543	+1	tier1	-	no_errors	ENST00000369701	ensembl	human	known	74_37	missense	27.27	24	9	SNP	0.631	A
SPATA31E1	286234	genome.wustl.edu	37	9	90502226	90502226	+	Missense_Mutation	SNP	A	A	G			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr9:90502226A>G	ENST00000325643.5	+	4	2890	c.2824A>G	c.(2824-2826)Acc>Gcc	p.T942A		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	942					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GTCAGCTGATACCCATGGGCG	0.642																																																	0													43.0	44.0	44.0					9																	90502226		2202	4297	6499	SO:0001583	missense	0			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2824A>G	9.37:g.90502226A>G	ENSP00000322640:p.Thr942Ala		B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	NULL	p.T942A	ENST00000325643.5	37	c.2824	CCDS6676.1	9	.	.	.	.	.	.	.	.	.	.	a	0.021	-1.421147	0.01126	.	.	ENSG00000177992	ENST00000325643	T	0.03301	3.98	2.39	-2.08	0.07254	.	3.905770	0.00567	N	0.000298	T	0.02304	0.0071	N	0.19112	0.55	0.09310	N	1	P	0.42248	0.774	B	0.37888	0.26	T	0.38972	-0.9636	10	0.08599	T	0.76	.	3.0563	0.06186	0.4371:0.2302:0.3327:0.0	.	942	Q6ZUB1	CI079_HUMAN	A	942	ENSP00000322640:T942A	ENSP00000322640:T942A	T	+	1	0	C9orf79	89692046	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.369000	0.07533	-0.421000	0.07416	-0.429000	0.05907	ACC	SPATA31E1	-	NULL	ENSG00000177992		0.642	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31E1	HGNC	protein_coding	OTTHUMT00000052954.2	-	0.00	34	0	A	NM_178828		90502226	+1	tier1	-	no_errors	ENST00000325643	ensembl	human	known	74_37	missense	39.13	14	9	SNP	0.000	G
SPEG	10290	genome.wustl.edu	37	2	220330668	220330669	+	Intron	INS	-	-	GT	rs554914793		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:220330668_220330669insGT	ENST00000312358.7	+	10	3013				SPEG_ENST00000396688.1_Intron|SPEG_ENST00000396689.2_Intron|SPEG_ENST00000396695.2_Intron|SPEG_ENST00000485813.1_Intron|SPEG_ENST00000396686.1_Intron|SPEG_ENST00000396698.1_Intron	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus						cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		tgcacgtgtgcgtgcatgtgtg	0.589																																																	0																																										SO:0001627	intron_variant	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2882-1227->GT	2.37:g.220330669_220330670dupGT			A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	RNA	INS	-	NULL	ENST00000312358.7	37	NULL	CCDS42824.1	2																																																																																			SPEG	-	-	ENSG00000072195		0.589	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2		0.00	22	0	-	NM_005876		220330669	+1	tier1		no_errors	ENST00000462545	ensembl	human	known	74_37	rna	17.14	29	6	INS	0.000:0.003	GT
SPTB	6710	genome.wustl.edu	37	14	65233375	65233375	+	Nonstop_Mutation	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr14:65233375C>A	ENST00000389721.5	-	31	6446	c.6414G>T	c.(6412-6414)taG>taT	p.*2138Y	SPTB_ENST00000556626.1_Intron|SPTB_ENST00000389722.3_Intron|SPTB_ENST00000542895.1_Nonstop_Mutation_p.*2138Y|SPTB_ENST00000342835.4_5'Flank	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGGGCTGAGCCTAGTAGGGGT	0.652																																																	0													84.0	82.0	83.0					14																	65233375		2203	4300	6503	SO:0001578	stop_lost	0				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.6414G>T	14.37:g.65233375C>A			Q15510|Q15519	Nonstop_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pirsf_Spectrin_bsu,pfscan_CH-domain	p.*2138Y	ENST00000389721.5	37	c.6414	CCDS32100.1	14	.	.	.	.	.	.	.	.	.	.	C	18.01	3.526670	0.64860	.	.	ENSG00000070182	ENST00000389721;ENST00000542895	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8359	0.57773	0.0:1.0:0.0:0.0	.	.	.	.	Y	2138	.	.	X	-	3	2	SPTB	64303128	1.000000	0.71417	0.996000	0.52242	0.345000	0.29048	0.922000	0.28734	2.483000	0.83821	0.455000	0.32223	TAG	SPTB	-	NULL	ENSG00000070182		0.652	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1		0.00	24	0	C			65233375	-1			no_errors	ENST00000389721	ensembl	human	known	74_37	nonstop	10.53	34	4	SNP	1.000	A
SRRM3	222183	genome.wustl.edu	37	7	75889238	75889238	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:75889238C>A	ENST00000326382.8	+	4	557	c.350C>A	c.(349-351)cCg>cAg	p.P117Q	SRRM3_ENST00000388802.4_Missense_Mutation_p.P117Q	NM_001110199.1	NP_001103669.1	A6NNA2	SRRM3_HUMAN	serine/arginine repetitive matrix 3	117										NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						GCGGAGACCCCGCGGCTGACC	0.697																																																	0													24.0	28.0	27.0					7																	75889238		1529	3535	5064	SO:0001583	missense	0			AK092590		7q11.23	2014-02-12			ENSG00000177679	ENSG00000177679			26729	protein-coding gene	gene with protein product							Standard	NM_001291831		Approved	FLJ37078	uc010ldi.2	A6NNA2	OTTHUMG00000130489	ENST00000326382.8:c.350C>A	7.37:g.75889238C>A	ENSP00000325298:p.Pro117Gln		A6ND75	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.P117Q	ENST00000326382.8	37	c.350		7	.	.	.	.	.	.	.	.	.	.	C	12.81	2.048789	0.36181	.	.	ENSG00000177679	ENST00000388802;ENST00000326382	.	.	.	3.52	2.4	0.29515	.	0.185852	0.26176	N	0.025885	T	0.43500	0.1250	L	0.47716	1.5	0.32826	D	0.503445	D	0.59357	0.985	P	0.48901	0.594	T	0.57347	-0.7827	9	0.56958	D	0.05	-18.2804	7.3118	0.26479	0.4063:0.5937:0.0:0.0	.	117	A6NNA2	SRRM3_HUMAN	Q	117	.	ENSP00000325298:P117Q	P	+	2	0	SRRM3	75727174	0.834000	0.29399	0.963000	0.40424	0.574000	0.36063	1.299000	0.33424	1.693000	0.51124	0.555000	0.69702	CCG	SRRM3	-	NULL	ENSG00000177679		0.697	SRRM3-001	KNOWN	basic	protein_coding	SRRM3	HGNC	protein_coding	OTTHUMT00000252889.2	-	0.00	101	0	C	NM_001110199		75889238	+1	tier1	-	no_errors	ENST00000388802	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.837	A
STX16	8675	genome.wustl.edu	37	20	57227095	57227095	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr20:57227095G>T	ENST00000371141.4	+	1	757	c.33G>T	c.(31-33)ttG>ttT	p.L11F	STX16_ENST00000358029.4_Missense_Mutation_p.L11F|STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.L11F|STX16_ENST00000355957.5_Missense_Mutation_p.L11F|STX16_ENST00000359617.4_Intron|STX16_ENST00000361830.3_Missense_Mutation_p.L11F|STX16_ENST00000496003.1_3'UTR|STX16_ENST00000371132.4_Missense_Mutation_p.L11F|STX16_ENST00000361770.5_Missense_Mutation_p.L11F	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	11					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			ACGCTTTCTTGTTGTTGCGGA	0.537																																																	0													106.0	100.0	102.0					20																	57227095		2203	4300	6503	SO:0001583	missense	0			AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.33G>T	20.37:g.57227095G>T	ENSP00000360183:p.Leu11Phe		A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.L11F	ENST00000371141.4	37	c.33	CCDS13468.1	20	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411653	0.62399	.	.	ENSG00000124222	ENST00000355957;ENST00000361770;ENST00000371141;ENST00000371132;ENST00000358029;ENST00000361830	T;T;T;T;T;T	0.53640	0.71;0.75;0.71;0.64;0.61;0.68	4.81	4.81	0.61882	.	0.000000	0.64402	U	0.000015	T	0.45597	0.1350	L	0.56769	1.78	0.80722	D	1	B;B;B;B	0.31752	0.223;0.105;0.338;0.125	B;B;B;B	0.36418	0.093;0.191;0.168;0.224	T	0.43114	-0.9411	10	0.40728	T	0.16	.	10.6291	0.45525	0.0864:0.0:0.9136:0.0	.	11;11;11;11	Q6GMS8;O14662-4;O14662-2;O14662	.;.;.;STX16_HUMAN	F	11	ENSP00000348229:L11F;ENSP00000355408:L11F;ENSP00000360183:L11F;ENSP00000360173:L11F;ENSP00000350723:L11F;ENSP00000354445:L11F	ENSP00000432101:L11F	L	+	3	2	STX16	56660501	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.671000	0.68095	2.492000	0.84095	0.655000	0.94253	TTG	STX16-NPEPL1	-	NULL	ENSG00000254995		0.537	STX16-002	KNOWN	basic|CCDS	protein_coding	STX16-NPEPL1	HGNC	protein_coding	OTTHUMT00000080517.2	-	0.00	47	0	G	NM_001001433		57227095	+1	tier1	-	no_errors	ENST00000530122	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T
SYNE3	161176	genome.wustl.edu	37	14	95905383	95905383	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr14:95905383C>T	ENST00000334258.5	-	13	2377	c.2363G>A	c.(2362-2364)aGg>aAg	p.R788K	SYNE3_ENST00000557275.1_Missense_Mutation_p.R788K|SYNE3_ENST00000554873.1_Missense_Mutation_p.R545K	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	788					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						TCGACGATGCCTGGGAATAGG	0.562																																																	0													224.0	201.0	209.0					14																	95905383		2203	4300	6503	SO:0001583	missense	0			AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.2363G>A	14.37:g.95905383C>T	ENSP00000334308:p.Arg788Lys		A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH	p.R788K	ENST00000334258.5	37	c.2363	CCDS9935.1	14	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407230	0.42715	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275	T;T;T	0.14022	3.56;2.54;3.57	5.25	5.25	0.73442	.	0.147330	0.31177	N	0.008108	T	0.14657	0.0354	L	0.55103	1.725	0.80722	D	1	B;B	0.25850	0.136;0.084	B;B	0.23419	0.046;0.021	T	0.06023	-1.0850	10	0.12430	T	0.62	-14.2532	15.7802	0.78255	0.0:1.0:0.0:0.0	.	788;788	Q6ZMZ3-2;Q6ZMZ3	.;SYNE3_HUMAN	K	788;545;788	ENSP00000334308:R788K;ENSP00000452154:R545K;ENSP00000450562:R788K	ENSP00000334308:R788K	R	-	2	0	C14orf49	94975136	0.506000	0.26139	0.024000	0.17045	0.050000	0.14768	2.190000	0.42630	2.459000	0.83118	0.491000	0.48974	AGG	SYNE3	-	superfamily_Retrov_capsid_C	ENSG00000176438		0.562	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE3	HGNC	protein_coding	OTTHUMT00000420529.2	-	0.00	60	0	C	NM_152592		95905383	-1	tier1	-	no_errors	ENST00000334258	ensembl	human	known	74_37	missense	27.69	47	18	SNP	0.068	T
SZRD1	26099	genome.wustl.edu	37	1	16719936	16719936	+	Silent	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:16719936C>T	ENST00000401088.4	+	3	490	c.315C>T	c.(313-315)agC>agT	p.S105S	SZRD1_ENST00000472461.1_3'UTR|SZRD1_ENST00000375590.3_Silent_p.S85S|SZRD1_ENST00000401089.3_Silent_p.S86S|SZRD1_ENST00000471507.1_Silent_p.S104S|SPATA21_ENST00000466212.1_5'Flank|SZRD1_ENST00000492354.1_Silent_p.S85S	NM_001114600.1|NM_001271869.1	NP_001108072.1|NP_001258798.1	Q7Z422	SZRD1_HUMAN	SUZ RNA binding domain containing 1	105	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.																TCCTGGGCAGCGCCAGCCCCG	0.672																																																	0													20.0	25.0	23.0					1																	16719936		2021	4179	6200	SO:0001819	synonymous_variant	0			BC010631	CCDS44065.1, CCDS60000.1	1p36.13	2012-07-23	2012-07-23	2012-07-23	ENSG00000055070	ENSG00000055070			30232	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 144"""	C1orf144		12761501	Standard	NM_001114600		Approved	DKFZp566C0424	uc001aym.5	Q7Z422	OTTHUMG00000002217	ENST00000401088.4:c.315C>T	1.37:g.16719936C>T			A8MXJ2|C9K0U0|Q7Z424|Q8IVM2|Q8TBV3|Q9Y403	Silent	SNP	NULL	p.S85	ENST00000401088.4	37	c.255	CCDS44065.1	1																																																																																			SZRD1	-	NULL	ENSG00000055070		0.672	SZRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SZRD1	HGNC	protein_coding	OTTHUMT00000006283.2	-	0.00	36	0	C	NM_015609		16719936	+1	tier1	-	no_errors	ENST00000375590	ensembl	human	known	74_37	silent	5.88	64	4	SNP	0.257	T
TACC2	10579	genome.wustl.edu	37	10	123842775	123842775	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr10:123842775G>A	ENST00000369005.1	+	4	1100	c.760G>A	c.(760-762)Gct>Act	p.A254T	TACC2_ENST00000334433.3_Missense_Mutation_p.A254T|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.A254T|TACC2_ENST00000515603.1_Missense_Mutation_p.A254T|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A254T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	254					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGAGGCCCCTGCTGCAGCCCA	0.612																																																	0													39.0	46.0	43.0					10																	123842775		2203	4299	6502	SO:0001583	missense	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.760G>A	10.37:g.123842775G>A	ENSP00000358001:p.Ala254Thr		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.A254T	ENST00000369005.1	37	c.760	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205666	0.39003	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.07021	3.33;3.23;3.25;3.33;3.23	5.57	1.16	0.20824	.	0.487586	0.15427	N	0.262918	T	0.04724	0.0128	N	0.19112	0.55	0.09310	N	1	B;B;B	0.24721	0.11;0.11;0.11	B;B;B	0.20577	0.03;0.03;0.03	T	0.37384	-0.9708	10	0.87932	D	0	0.4161	2.8677	0.05607	0.1677:0.1375:0.553:0.1418	.	254;254;254	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	T	254;254;254;254;254;244	ENSP00000358001:A254T;ENSP00000424467:A254T;ENSP00000427618:A254T;ENSP00000334280:A254T;ENSP00000395048:A254T	ENSP00000334280:A254T	A	+	1	0	TACC2	123832765	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.030000	0.13688	-0.043000	0.13513	0.555000	0.69702	GCT	TACC2	-	NULL	ENSG00000138162		0.612	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1		0.00	72	0	G			123842775	+1			no_errors	ENST00000334433	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.000	A
TAF6L	10629	genome.wustl.edu	37	11	62549432	62549432	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:62549432G>A	ENST00000294168.3	+	7	799	c.598G>A	c.(598-600)Gtc>Atc	p.V200I	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	200					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						TGTTTATGTGGTCAGTGGGGT	0.517																																																	0													86.0	79.0	81.0					11																	62549432		2201	4299	6500	SO:0001583	missense	0			BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"""TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.598G>A	11.37:g.62549432G>A	ENSP00000294168:p.Val200Ile		B2RAT0|Q96HA6	Missense_Mutation	SNP	pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd	p.V200I	ENST00000294168.3	37	c.598	CCDS8035.1	11	.	.	.	.	.	.	.	.	.	.	G	8.934	0.964210	0.18583	.	.	ENSG00000162227	ENST00000294168	T	0.63096	-0.02	5.4	5.4	0.78164	.	0.067439	0.64402	D	0.000013	T	0.36220	0.0959	N	0.03608	-0.345	0.80722	D	1	B	0.19706	0.038	B	0.17433	0.018	T	0.37337	-0.9710	10	0.02654	T	1	-3.867	16.7038	0.85366	0.0:0.0:1.0:0.0	.	200	Q9Y6J9	TAF6L_HUMAN	I	200	ENSP00000294168:V200I	ENSP00000294168:V200I	V	+	1	0	TAF6L	62306008	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.825000	0.75293	2.813000	0.96785	0.561000	0.74099	GTC	TAF6L	-	NULL	ENSG00000162227		0.517	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF6L	HGNC	protein_coding	OTTHUMT00000395352.1	-	0.00	49	0	G	NM_006473		62549432	+1	tier1	-	no_errors	ENST00000294168	ensembl	human	known	74_37	missense	24.29	53	17	SNP	1.000	A
TBX5	6910	genome.wustl.edu	37	12	114841727	114841727	+	5'UTR	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr12:114841727G>A	ENST00000310346.4	-	0	643				TBX5_ENST00000405440.2_5'UTR|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000349716.5_Intron|TBX5_ENST00000526441.1_5'Flank	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5						apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CCCTGTGCCCGCGCAAGGTTC	0.622																																					NSCLC(152;1358 1980 4050 23898 40356)												0													15.0	17.0	17.0					12																	114841727		2201	4294	6495	SO:0001623	5_prime_UTR_variant	0			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.-24C>T	12.37:g.114841727G>A			A6ND77|O15301|Q96TB0|Q9Y4I2	RNA	SNP	-	NULL	ENST00000310346.4	37	NULL	CCDS9173.1	12																																																																																			TBX5	-	-	ENSG00000089225		0.622	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TBX5	HGNC	protein_coding	OTTHUMT00000388297.1	-	0.00	86	0	G	NM_080717		114841727	-1	tier1	-	no_errors	ENST00000552726	ensembl	human	known	74_37	rna	33.88	80	41	SNP	0.422	A
TCEAL4	79921	genome.wustl.edu	37	X	102841918	102841918	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chrX:102841918G>T	ENST00000472745.1	+	3	867	c.315G>T	c.(313-315)gaG>gaT	p.E105D	TCEAL4_ENST00000415568.2_Missense_Mutation_p.E105D|TCEAL4_ENST00000468024.1_Missense_Mutation_p.E105D|TCEAL4_ENST00000472484.1_Missense_Mutation_p.E105D|TCEAL4_ENST00000372629.4_Missense_Mutation_p.E248D|TCEAL4_ENST00000494801.1_Missense_Mutation_p.E105D			Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	105	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|skin(2)	6						gtgaaggagagCCAGGGAGTG	0.512																																																	0													61.0	61.0	61.0					X																	102841918		2203	4300	6503	SO:0001583	missense	0			AF314542	CCDS14510.2, CCDS76004.1	Xq22.2	2014-03-21			ENSG00000133142	ENSG00000133142			26121	protein-coding gene	gene with protein product						14702039, 16221301	Standard	XM_005262192		Approved	FLJ21174, WEX7	uc004ekn.3	Q96EI5	OTTHUMG00000022103	ENST00000472745.1:c.315G>T	X.37:g.102841918G>T	ENSP00000424314:p.Glu105Asp		Q8WY12|Q9H2H1|Q9H775	Missense_Mutation	SNP	pfam_TF_A-like/BEX-like	p.E248D	ENST00000472745.1	37	c.744	CCDS14510.2	X	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921531	0.33908	.	.	ENSG00000133142	ENST00000372629;ENST00000468024;ENST00000472484;ENST00000415568;ENST00000414064;ENST00000472745;ENST00000494801;ENST00000469586	T;T;T;T;T;T;T	0.25749	2.9;1.78;1.78;1.78;1.78;1.78;1.84	3.99	-0.0198	0.13958	.	1.110310	0.07154	N	0.849622	T	0.18593	0.0446	L	0.44542	1.39	0.09310	N	1	B	0.25441	0.126	B	0.25506	0.061	T	0.32929	-0.9888	10	0.23891	T	0.37	.	3.0525	0.06174	0.2247:0.0:0.3769:0.3984	.	105	Q96EI5	TCAL4_HUMAN	D	248;105;105;105;76;105;105;105	ENSP00000361712:E248D;ENSP00000421857:E105D;ENSP00000421156:E105D;ENSP00000415564:E105D;ENSP00000424314:E105D;ENSP00000427494:E105D;ENSP00000427053:E105D	ENSP00000361712:E248D	E	+	3	2	TCEAL4	102728574	0.046000	0.20272	0.197000	0.23402	0.130000	0.20726	-0.539000	0.06113	-0.119000	0.11830	0.432000	0.28606	GAG	TCEAL4	-	pfam_TF_A-like/BEX-like	ENSG00000133142		0.512	TCEAL4-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCEAL4	HGNC	protein_coding	OTTHUMT00000252339.2		0.00	45	0	G	NM_024863		102841918	+1			no_errors	ENST00000372629	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.174	T
TECTA	7007	genome.wustl.edu	37	11	120989026	120989026	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:120989026C>T	ENST00000392793.1	+	7	1073	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W	TECTA_ENST00000264037.2_Missense_Mutation_p.R268W			O75443	TECTA_HUMAN	tectorin alpha	268	VWFC.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACAATTCCTTCGGCGAGGGGA	0.493																																																	0													67.0	63.0	64.0					11																	120989026		2203	4299	6502	SO:0001583	missense	0			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.802C>T	11.37:g.120989026C>T	ENSP00000376543:p.Arg268Trp			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.R268W	ENST00000392793.1	37	c.802	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234424	0.79800	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.66099	-0.19;-0.19	5.66	5.66	0.87406	von Willebrand factor, type C (1);	0.065114	0.64402	D	0.000015	T	0.75459	0.3852	L	0.60455	1.87	0.35964	D	0.834817	D	0.89917	1.0	P	0.60609	0.877	T	0.80819	-0.1212	10	0.72032	D	0.01	.	19.7628	0.96329	0.0:1.0:0.0:0.0	.	268	O75443	TECTA_HUMAN	W	268	ENSP00000376543:R268W;ENSP00000264037:R268W	ENSP00000264037:R268W	R	+	1	2	TECTA	120494236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.071000	0.50041	2.653000	0.90120	0.563000	0.77884	CGG	TECTA	-	smart_VWC_out	ENSG00000109927		0.493	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	-	0.00	50	0	C	NM_005422		120989026	+1	tier1	-	no_errors	ENST00000264037	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	T
TEX15	56154	genome.wustl.edu	37	8	30704417	30704417	+	Missense_Mutation	SNP	A	A	G			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr8:30704417A>G	ENST00000256246.2	-	1	2191	c.2117T>C	c.(2116-2118)tTt>tCt	p.F706S	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	706					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.F706C(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGAGGTCACAAATTCTTCACA	0.378																																																	1	Substitution - Missense(1)	endometrium(1)											95.0	86.0	89.0					8																	30704417		2203	4299	6502	SO:0001583	missense	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.2117T>C	8.37:g.30704417A>G	ENSP00000256246:p.Phe706Ser			Missense_Mutation	SNP	NULL	p.F706S	ENST00000256246.2	37	c.2117	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	A	15.04	2.714649	0.48622	.	.	ENSG00000133863	ENST00000256246	T	0.11495	2.77	5.56	-1.41	0.08941	.	1.447730	0.04184	N	0.327078	T	0.08088	0.0202	L	0.32530	0.975	0.09310	N	1	B	0.20780	0.048	B	0.18561	0.022	T	0.39583	-0.9607	10	0.87932	D	0	.	0.5803	0.00711	0.4399:0.1388:0.1538:0.2674	.	706	Q9BXT5	TEX15_HUMAN	S	706	ENSP00000256246:F706S	ENSP00000256246:F706S	F	-	2	0	TEX15	30823959	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	1.014000	0.29950	-0.486000	0.06744	-1.227000	0.01581	TTT	TEX15	-	NULL	ENSG00000133863		0.378	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1		0.00	26	0	A			30704417	-1			no_errors	ENST00000256246	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	G
TGDS	23483	genome.wustl.edu	37	13	95229646	95229647	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr13:95229646_95229647insA	ENST00000261296.5	-	10	982_983	c.862_863insT	c.(862-864)tggfs	p.W288fs	TGDS_ENST00000498294.1_5'Flank	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	288					nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					ATAATCAACCCAATTTTCCATT	0.302																																																	0																																										SO:0001589	frameshift_variant	0			AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	20324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 2E, member 1"""					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.863dupT	13.37:g.95229648_95229648dupA	ENSP00000261296:p.Trp288fs		Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Frame_Shift_Ins	INS	pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_Male_sterile_NAD-bd	p.W288fs	ENST00000261296.5	37	c.863_862	CCDS9471.1	13																																																																																			TGDS	-	pfam_dTDP_dehydrorham_reduct	ENSG00000088451		0.302	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGDS	HGNC	protein_coding	OTTHUMT00000106904.2		0.00	81	0	-	NM_014305		95229647	-1	tier1		no_errors	ENST00000261296	ensembl	human	known	74_37	frame_shift_ins	30.53	66	29	INS	1.000:1.000	A
TGM5	9333	genome.wustl.edu	37	15	43525493	43525493	+	Missense_Mutation	SNP	C	C	T	rs375024044		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr15:43525493C>T	ENST00000220420.5	-	13	2066	c.2059G>A	c.(2059-2061)Gtc>Atc	p.V687I	TGM5_ENST00000349114.4_Missense_Mutation_p.V605I	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	687					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TTGAAGGGGACGGTCTCCAGA	0.438																																																	0								C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	177.0	149.0	159.0		1813,2059	2.0	1.0	15		159	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	TGM5	NM_004245.3,NM_201631.3	29,29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	605/639,687/721	43525493	1,13003	2203	4299	6502	SO:0001583	missense	0			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.2059G>A	15.37:g.43525493C>T	ENSP00000220420:p.Val687Ile		O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.V687I	ENST00000220420.5	37	c.2059	CCDS32212.1	15	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986790	0.35036	0.0	1.16E-4	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.68479	-0.33;-0.33	5.97	2.05	0.26809	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.457880	0.22609	N	0.057856	T	0.51736	0.1692	L	0.39397	1.21	0.27454	N	0.953343	B;B	0.15719	0.009;0.014	B;B	0.16722	0.005;0.016	T	0.35871	-0.9771	10	0.21014	T	0.42	-11.7206	8.0065	0.30327	0.0:0.6079:0.0:0.3921	.	605;687	O43548-2;O43548	.;TGM5_HUMAN	I	687;605;686	ENSP00000220420:V687I;ENSP00000220419:V605I	ENSP00000220420:V687I	V	-	1	0	TGM5	41312785	0.014000	0.17966	0.984000	0.44739	0.963000	0.63663	0.189000	0.17037	0.132000	0.18615	0.655000	0.94253	GTC	TGM5	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C	ENSG00000104055		0.438	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM5	HGNC	protein_coding	OTTHUMT00000432257.1	-	0.00	44	0	C	NM_004245		43525493	-1	tier1	-	no_errors	ENST00000220420	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.986	T
TMEM40	55287	genome.wustl.edu	37	3	12778296	12778296	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:12778296C>T	ENST00000314124.7	-	9	867	c.511G>A	c.(511-513)Ggg>Agg	p.G171R	TMEM40_ENST00000435575.1_Missense_Mutation_p.G95R|TMEM40_ENST00000476331.1_5'UTR|TMEM40_ENST00000264728.8_Missense_Mutation_p.G171R|TMEM40_ENST00000431022.2_Missense_Mutation_p.G187R|TMEM40_ENST00000435218.2_Missense_Mutation_p.G141R	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	171						integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						AGCAAGGCCCCGATGGCAAAG	0.567																																																	0													155.0	147.0	150.0					3																	12778296		2203	4300	6503	SO:0001583	missense	0			BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.511G>A	3.37:g.12778296C>T	ENSP00000322837:p.Gly171Arg		C9JID5|Q8NAL4|Q9NUZ4	Missense_Mutation	SNP	NULL	p.G187R	ENST00000314124.7	37	c.559	CCDS2613.1	3	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996590	0.74818	.	.	ENSG00000088726	ENST00000314124;ENST00000435575;ENST00000435218;ENST00000428020;ENST00000264728;ENST00000431022	.	.	.	5.23	4.35	0.52113	.	0.135740	0.33854	N	0.004500	T	0.71567	0.3355	M	0.63843	1.955	0.40253	D	0.978097	D;P;D;D	0.89917	0.993;0.859;1.0;0.993	P;B;D;P	0.97110	0.608;0.215;1.0;0.608	T	0.74940	-0.3493	9	0.87932	D	0	.	11.8635	0.52480	0.0:0.8236:0.1764:0.0	.	187;95;141;171	B4DXI0;C9JID5;Q8WWA1-2;Q8WWA1	.;.;.;TMM40_HUMAN	R	171;95;141;35;171;187	.	ENSP00000264728:G171R	G	-	1	0	TMEM40	12753296	0.997000	0.39634	0.994000	0.49952	0.989000	0.77384	3.886000	0.56190	1.201000	0.43203	0.467000	0.42956	GGG	TMEM40	-	NULL	ENSG00000088726		0.567	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM40	HGNC	protein_coding	OTTHUMT00000252029.2	-	0.00	69	0	C	NM_018306		12778296	-1	tier1	-	no_errors	ENST00000431022	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.977	T
TMEM55A	55529	genome.wustl.edu	37	8	92032388	92032388	+	Missense_Mutation	SNP	T	T	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr8:92032388T>A	ENST00000285419.3	-	3	673	c.359A>T	c.(358-360)aAc>aTc	p.N120I	GS1-251I9.3_ENST00000517920.1_RNA	NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	120						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			CTCTTACCAGTTGGGTCTTGG	0.378																																																	0													119.0	118.0	118.0					8																	92032388		2203	4300	6503	SO:0001583	missense	0			BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.359A>T	8.37:g.92032388T>A	ENSP00000285419:p.Asn120Ile		B2R9H4|Q68CU2	Missense_Mutation	SNP	pfam_Transmembrane_protein_55A/B	p.N120I	ENST00000285419.3	37	c.359	CCDS6252.1	8	.	.	.	.	.	.	.	.	.	.	T	23.5	4.429529	0.83776	.	.	ENSG00000155099	ENST00000285419;ENST00000520014	.	.	.	6.06	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.69387	0.3105	L	0.46157	1.445	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.70417	-0.4877	9	0.56958	D	0.05	.	13.6607	0.62366	0.0:0.0:0.1289:0.8711	.	120	Q8N4L2	TM55A_HUMAN	I	120;126	.	ENSP00000285419:N120I	N	-	2	0	TMEM55A	92101564	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.983000	0.70540	1.102000	0.41551	0.533000	0.62120	AAC	TMEM55A	-	pfam_Transmembrane_protein_55A/B	ENSG00000155099		0.378	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM55A	HGNC	protein_coding	OTTHUMT00000376778.1	-	0.00	61	0	T	NM_018710		92032388	-1	tier1	-	no_errors	ENST00000285419	ensembl	human	known	74_37	missense	32.84	45	22	SNP	1.000	A
TNFRSF19	55504	genome.wustl.edu	37	13	24242195	24242195	+	Silent	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr13:24242195G>A	ENST00000382258.4	+	8	1017	c.813G>A	c.(811-813)gtG>gtA	p.V271V	TNFRSF19_ENST00000403372.2_Silent_p.V139V|TNFRSF19_ENST00000248484.4_Silent_p.V271V|TNFRSF19_ENST00000382263.3_Silent_p.V271V	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	271					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GTTGTGGGGTGCATTCTGCAG	0.522																																																	0													54.0	47.0	49.0					13																	24242195		2203	4300	6503	SO:0001819	synonymous_variant	0			AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.813G>A	13.37:g.24242195G>A			A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Silent	SNP	smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_19	p.V271	ENST00000382258.4	37	c.813	CCDS9302.1	13																																																																																			TNFRSF19	-	NULL	ENSG00000127863		0.522	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	TNFRSF19	HGNC	protein_coding	OTTHUMT00000044156.2	-	0.00	31	0	G	NM_018647		24242195	+1	tier1	-	no_errors	ENST00000382258	ensembl	human	known	74_37	silent	22.22	14	4	SNP	0.882	A
TNFSF11	8600	genome.wustl.edu	37	13	43148538	43148538	+	Silent	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr13:43148538G>A	ENST00000239849.6	+	1	250	c.99G>A	c.(97-99)ccG>ccA	p.P33P	TNFSF11_ENST00000398795.2_5'UTR|TNFSF11_ENST00000405262.2_Intron|TNFSF11_ENST00000358545.2_Intron|TNFSF11_ENST00000544862.1_Intron			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	33					activation of JUN kinase activity (GO:0007257)|bone resorption (GO:0045453)|calcium ion homeostasis (GO:0055074)|cytokine-mediated signaling pathway (GO:0019221)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|monocyte chemotaxis (GO:0002548)|organ morphogenesis (GO:0009887)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of bone resorption (GO:0045780)|positive regulation of corticotropin-releasing hormone secretion (GO:0051466)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast development (GO:2001206)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	cytokine activity (GO:0005125)|tumor necrosis factor receptor binding (GO:0005164)|tumor necrosis factor receptor superfamily binding (GO:0032813)			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Denosumab(DB06643)|Lenalidomide(DB00480)	TGCACGCCCCGCCGCCGCCTG	0.756																																																	0													3.0	4.0	4.0					13																	43148538		1739	3585	5324	SO:0001819	synonymous_variant	0			AF013171	CCDS9384.1, CCDS9385.1	13q14	2008-02-05			ENSG00000120659	ENSG00000120659		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11926	protein-coding gene	gene with protein product		602642				9312132, 9367155	Standard	NM_003701		Approved	TRANCE, RANKL, OPGL, ODF, CD254	uc001uyu.2	O14788	OTTHUMG00000016807	ENST00000239849.6:c.99G>A	13.37:g.43148538G>A			O14723|Q96Q17|Q9P2Q3	Silent	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom	p.P33	ENST00000239849.6	37	c.99	CCDS9384.1	13																																																																																			TNFSF11	-	pirsf_TNF_ligand_10/11	ENSG00000120659		0.756	TNFSF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF11	HGNC	protein_coding	OTTHUMT00000044702.2	-	0.00	12	0	G			43148538	+1	tier1	-	no_errors	ENST00000239849	ensembl	human	known	74_37	silent	34.48	19	10	SNP	0.887	A
TONSL	4796	genome.wustl.edu	37	8	145661587	145661589	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr8:145661587_145661589delGCT	ENST00000409379.3	-	17	2256_2258	c.2227_2229delAGC	c.(2227-2229)agcdel	p.S744del	AC084125.4_ENST00000544423.1_RNA|AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	744					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CGCCTTCTGAGCTGCTGCTGCTG	0.719																																																	0										68,3998		2,64,1967						3.0	0.8			10	123,7811		4,115,3848	no	coding	TONSL	NM_013432.4		6,179,5815	A1A1,A1R,RR		1.5503,1.6724,1.5917				191,11809				SO:0001651	inframe_deletion	0				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.2227_2229delAGC	8.37:g.145661596_145661598delGCT	ENSP00000386239:p.Ser744del		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	In_Frame_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.S744in_frame_del	ENST00000409379.3	37	c.2229_2227	CCDS34968.2	8																																																																																			TONSL	-	NULL	ENSG00000160949		0.719	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	HGNC	protein_coding	OTTHUMT00000329668.2		0.00	19	0	GCT	NM_013432		145661589	-1	tier1		no_errors	ENST00000409379	ensembl	human	known	74_37	in_frame_del	15.00	17	3	DEL	0.999:0.998:0.999	-
TP53	7157	genome.wustl.edu	37	17	7577062	7577062	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr17:7577062delT	ENST00000269305.4	-	8	1065	c.876delA	c.(874-876)aaafs	p.K292fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Frame_Shift_Del_p.K292fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.K292fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.K292fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.K292fs	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	292	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		K -> E (in sporadic cancers; somatic mutation).|K -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> I (in LFS; germline mutation and in a sporadic cancer; somatic mutation). {ECO:0000269|PubMed:10484981}.|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in a sporadic cancer; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (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.K291fs*48(8)|p.0?(8)|p.G293fs*13(3)|p.K292N(3)|p.?(2)|p.T284_G293del10(1)|p.L265_K305del41(1)|p.R290fs*12(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.K292K(1)|p.V272_K292del21(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)	GAGGCTCCCCTTTCTTGCGGA	0.572		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	31	Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(3)|Insertion - Frameshift(3)|Substitution - Missense(3)|Unknown(2)|Complex - deletion inframe(1)|Substitution - coding silent(1)	upper_aerodigestive_tract(12)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|breast(2)|salivary_gland(1)|stomach(1)|kidney(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)											106.0	92.0	96.0					17																	7577062		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.876delA	17.37:g.7577062delT	ENSP00000269305:p.Lys292fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	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.E294fs	ENST00000269305.4	37	c.876	CCDS11118.1	17																																																																																			TP53	-	NULL	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0.00	36	0	T	NM_000546		7577062	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	71.70	15	38	DEL	0.411	-
TRA2B	6434	genome.wustl.edu	37	3	185639850	185639850	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:185639850G>T	ENST00000453386.2	-	5	862	c.587C>A	c.(586-588)aCa>aAa	p.T196K	TRA2B_ENST00000382191.4_Missense_Mutation_p.T96K	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	196	Linker.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						TGGTCTTTTTGTTATAGAGAA	0.363																																																	0													154.0	147.0	149.0					3																	185639850		2203	4300	6503	SO:0001583	missense	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.587C>A	3.37:g.185639850G>T	ENSP00000416959:p.Thr196Lys		B4DVK2|D3DNU3|O15449|Q15815|Q64283	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.T196K	ENST00000453386.2	37	c.587	CCDS33905.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.488472|5.488472	0.96323|0.96323	.|.	.|.	ENSG00000136527|ENSG00000136527	ENST00000259043;ENST00000414862|ENST00000453386;ENST00000382191	.|T;T	.|0.73789	.|1.33;-0.78	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85182|0.85182	0.5638|0.5638	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.79784	.|0.993;0.993	T|T	0.82764|0.82764	-0.0296|-0.0296	5|9	.|.	.|.	.|.	-6.571|-6.571	19.6509|19.6509	0.95805|0.95805	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|196;196	.|B2RDQ3;P62995	.|.;TRA2B_HUMAN	K|K	55;16|196;96	.|ENSP00000416959:T196K;ENSP00000371626:T96K	.|.	Q|T	-|-	1|2	0|0	TRA2B|TRA2B	187122544|187122544	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.813000|9.813000	0.99286|0.99286	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CAA|ACA	TRA2B	-	pfscan_RRM_dom	ENSG00000136527		0.363	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2B	HGNC	protein_coding	OTTHUMT00000344984.1	-	0.00	60	0	G	NM_004593		185639850	-1	tier1	-	no_errors	ENST00000453386	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T
TRIM63	84676	genome.wustl.edu	37	1	26392821	26392821	+	Silent	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:26392821G>A	ENST00000374272.3	-	2	408	c.270C>T	c.(268-270)taC>taT	p.Y90Y	TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	90	Interaction with TTN.				cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGCAGGCCGTACACTCCGT	0.632																																																	0													115.0	85.0	95.0					1																	26392821		2203	4300	6503	SO:0001819	synonymous_variant	0			AF353673	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	16007	protein-coding gene	gene with protein product	"""muscle-specific RING finger protein 1"", ""iris ring finger protein"", ""striated muscle RING zinc finger protein"""	606131	"""ring finger protein 28"", ""tripartite motif-containing 63"", ""tripartite motif containing 63"""	RNF28		11243782, 11283016	Standard	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	Q969Q1	OTTHUMG00000007510	ENST00000374272.3:c.270C>T	1.37:g.26392821G>A			B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Silent	SNP	pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.Y90	ENST00000374272.3	37	c.270	CCDS273.1	1																																																																																			TRIM63	-	NULL	ENSG00000158022		0.632	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM63	HGNC	protein_coding	OTTHUMT00000019750.1	-	0.00	52	0	G	NM_032588		26392821	-1	tier1	-	no_errors	ENST00000374272	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.845	A
TRIT1	54802	genome.wustl.edu	37	1	40312896	40312896	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:40312896C>A	ENST00000316891.5	-	8	1016	c.1002G>T	c.(1000-1002)ttG>ttT	p.L334F	TRIT1_ENST00000537223.1_Missense_Mutation_p.L30F|TRIT1_ENST00000441669.2_Missense_Mutation_p.L252F|TRIT1_ENST00000545233.1_Missense_Mutation_p.L88F|TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000372818.1_Intron|TRIT1_ENST00000537440.1_Missense_Mutation_p.L30F	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	334					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACTTACTGCTCAAAAAACGGT	0.368																																																	0													103.0	98.0	100.0					1																	40312896		2203	4300	6503	SO:0001583	missense	0			AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.1002G>T	1.37:g.40312896C>A	ENSP00000321810:p.Leu334Phe		A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	pfam_IPPT,pfam_Isopentenyl_transferase,pfam_Znf_C2H2_jaz,superfamily_P-loop_NTPase,smart_Znf_U1,tigrfam_tRNA_delta_PyrP_Trfase	p.L334F	ENST00000316891.5	37	c.1002	CCDS30681.1	1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241042	0.58995	.	.	ENSG00000043514	ENST00000372825;ENST00000441669;ENST00000316891;ENST00000534869;ENST00000545233;ENST00000537440;ENST00000537223	T	0.54071	0.59	5.52	2.6	0.31112	.	0.000000	0.85682	D	0.000000	T	0.62011	0.2393	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	0.992;1.0;1.0	D;D;D	0.91635	0.972;0.994;0.999	T	0.61446	-0.7061	10	0.66056	D	0.02	-7.1464	3.1338	0.06433	0.1234:0.5471:0.1202:0.2092	.	334;252;30	Q9H3H1;Q9H3H1-5;Q3T7B5	MOD5_HUMAN;.;.	F	252;246;334;227;88;30;30	ENSP00000321810:L334F	ENSP00000321810:L334F	L	-	3	2	TRIT1	40085483	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	0.789000	0.26886	0.808000	0.34231	-0.136000	0.14681	TTG	TRIT1	-	NULL	ENSG00000043514		0.368	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TRIT1	HGNC	protein_coding	OTTHUMT00000025627.2		0.00	57	0	C	NM_017646		40312896	-1			no_errors	ENST00000316891	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.953	A
TRMT1	55621	genome.wustl.edu	37	19	13226539	13226539	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:13226539G>T	ENST00000592062.1	-	5	924	c.354C>A	c.(352-354)gaC>gaA	p.D118E	TRMT1_ENST00000592892.1_5'UTR|NACC1_ENST00000292431.4_5'Flank|TRMT1_ENST00000437766.1_Missense_Mutation_p.D118E|TRMT1_ENST00000221504.8_Missense_Mutation_p.D118E|TRMT1_ENST00000357720.4_Missense_Mutation_p.D118E			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	118	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GCTCTGACAAGTCCACGACCA	0.542																																																	0													201.0	206.0	204.0					19																	13226539		2203	4300	6503	SO:0001583	missense	0			AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.354C>A	19.37:g.13226539G>T	ENSP00000466967:p.Asp118Glu		O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	pfam_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_TRM1	p.D118E	ENST00000592062.1	37	c.354	CCDS12293.1	19	.	.	.	.	.	.	.	.	.	.	G	13.38	2.221364	0.39300	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	.	.	.	4.74	2.63	0.31362	.	0.784522	0.12115	N	0.498209	T	0.38612	0.1047	N	0.26162	0.8	0.33836	D	0.630808	B;B	0.25390	0.007;0.125	B;B	0.31390	0.005;0.129	T	0.43015	-0.9417	9	0.19590	T	0.45	-23.0341	8.5506	0.33449	0.1885:0.0:0.8115:0.0	.	118;118	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	E	118	.	ENSP00000221504:D118E	D	-	3	2	TRMT1	13087539	0.999000	0.42202	0.999000	0.59377	0.808000	0.45660	0.347000	0.20014	0.618000	0.30179	0.563000	0.77884	GAC	TRMT1	-	pfam_TRM1,tigrfam_TRM1	ENSG00000104907		0.542	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT1	HGNC	protein_coding	OTTHUMT00000452780.2	-	0.00	26	0	G	NM_017722		13226539	-1	tier1	-	no_errors	ENST00000357720	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.998	T
TRO	7216	genome.wustl.edu	37	X	54953052	54953052	+	Missense_Mutation	SNP	G	G	A	rs201094980		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chrX:54953052G>A	ENST00000173898.7	+	9	1806	c.1694G>A	c.(1693-1695)cGc>cAc	p.R565H	TRO_ENST00000420798.2_Missense_Mutation_p.R96H|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000375041.2_Missense_Mutation_p.R168H|TRO_ENST00000375022.4_Missense_Mutation_p.R565H|TRO_ENST00000399736.1_Missense_Mutation_p.R168H|TRO_ENST00000319167.8_Missense_Mutation_p.R565H	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	565	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TTGGGGCTGCGCCCTGGGTAT	0.577																																																	0								G	HIS/ARG,HIS/ARG,HIS/ARG	0,3835		0,0,1632,571	136.0	124.0	128.0		1694,1694,1694	-6.2	0.0	X		128	1,6727		0,1,2427,1872	no	missense,missense,missense	TRO	NM_177556.1,NM_016157.2,NM_001039705.1	29,29,29	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	benign,benign,benign	565/707,565/707,565/1432	54953052	1,10562	2203	4300	6503	SO:0001583	missense	0			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1694G>A	X.37:g.54953052G>A	ENSP00000173898:p.Arg565His		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R565H	ENST00000173898.7	37	c.1694	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.052769	0.00394	0.0	1.49E-4	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T;T;T;T	0.04360	3.64;3.64;3.64;3.64;3.64;3.64	3.08	-6.17	0.02091	.	.	.	.	.	T	0.04363	0.0120	L	0.39514	1.22	0.09310	N	1	B;B;B;B	0.17268	0.001;0.015;0.021;0.001	B;B;B;B	0.18263	0.001;0.015;0.021;0.001	T	0.41052	-0.9530	9	0.13470	T	0.59	.	13.9641	0.64199	0.6143:0.0:0.3857:0.0	.	168;168;565;565	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	H	565;565;565;168;168;96;168	ENSP00000173898:R565H;ENSP00000318278:R565H;ENSP00000364162:R565H;ENSP00000382641:R168H;ENSP00000405126:R96H;ENSP00000364181:R168H	ENSP00000173898:R565H	R	+	2	0	TRO	54969777	0.004000	0.15560	0.048000	0.18961	0.500000	0.33767	-1.074000	0.03427	-3.091000	0.00247	-2.200000	0.00306	CGC	TRO	-	pfam_MAGE,pfscan_MAGE	ENSG00000067445		0.577	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	-	0.00	80	0	G	NM_016157		54953052	+1	tier1	rs201094980	no_errors	ENST00000173898	ensembl	human	known	74_37	missense	48.39	47	45	SNP	0.069	A
TSG101	7251	genome.wustl.edu	37	11	18505466	18505466	+	Missense_Mutation	SNP	T	T	C			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:18505466T>C	ENST00000251968.3	-	8	1209	c.794A>G	c.(793-795)aAg>aGg	p.K265R	TSG101_ENST00000357193.3_Missense_Mutation_p.K160R|TSG101_ENST00000536719.1_Missense_Mutation_p.K265R	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	265					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTGGTGACCCTTTTTCAGGTC	0.438																																					GBM(99;1348 1396 8611 26475 50572)												0													262.0	254.0	257.0					11																	18505466		2199	4293	6492	SO:0001583	missense	0			U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.794A>G	11.37:g.18505466T>C	ENSP00000251968:p.Lys265Arg		Q9BUM5	Missense_Mutation	SNP	pfam_UEV_N,pfam_Steadiness_box,superfamily_UBQ-conjugating_enzyme/RWD	p.K265R	ENST00000251968.3	37	c.794	CCDS7842.1	11	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030954	0.54790	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	T;T;T	0.52983	0.64;0.64;0.64	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	L	0.41710	1.295	0.54753	D	0.999982	B	0.06786	0.001	B	0.06405	0.002	T	0.18903	-1.0322	10	0.19147	T	0.46	-23.3487	14.3285	0.66537	0.0:0.0:0.0:1.0	.	265	Q99816	TS101_HUMAN	R	265;265;160	ENSP00000438471:K265R;ENSP00000251968:K265R;ENSP00000349721:K160R	ENSP00000251968:K265R	K	-	2	0	TSG101	18462042	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.375000	0.79646	2.125000	0.65367	0.459000	0.35465	AAG	TSG101	-	NULL	ENSG00000074319		0.438	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSG101	HGNC	protein_coding	OTTHUMT00000395906.1		0.00	43	0	T	NM_006292		18505466	-1			no_errors	ENST00000251968	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	C
TSHR	7253	genome.wustl.edu	37	14	81610253	81610253	+	Missense_Mutation	SNP	C	C	A	rs367866466		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr14:81610253C>A	ENST00000541158.2	+	11	2173	c.1851C>A	c.(1849-1851)gaC>gaA	p.D617E	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.D617E			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	617					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.Y613_K621del(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	ACCCAGGGGACAAAGATACCA	0.453			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																																yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	1	Deletion - In frame(1)	thyroid(1)						C	GLU/ASP	0,4406		0,0,2203	208.0	187.0	194.0		1851	1.5	1.0	14		194	1,8599	1.2+/-3.3	0,1,4299	no	missense	TSHR	NM_000369.2	45	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	617/765	81610253	1,13005	2203	4300	6503	SO:0001583	missense	0			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1851C>A	14.37:g.81610253C>A	ENSP00000441235:p.Asp617Glu		A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt	p.D617E	ENST00000541158.2	37	c.1851	CCDS9872.1	14	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166754	0.57476	0.0	1.16E-4	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	T;T	0.36340	1.26;1.26	5.37	1.45	0.22620	.	0.195144	0.53938	N	0.000051	T	0.28732	0.0712	N	0.25201	0.72	0.37448	D	0.914695	P	0.45348	0.856	P	0.49276	0.605	T	0.15607	-1.0431	10	0.66056	D	0.02	.	6.3658	0.21453	0.0:0.6319:0.1432:0.2249	.	617	F5GYU5	.	E	617;264;617	ENSP00000441235:D617E;ENSP00000298171:D617E	ENSP00000298171:D617E	D	+	3	2	TSHR	80680006	1.000000	0.71417	0.997000	0.53966	0.866000	0.49608	1.555000	0.36277	-0.004000	0.14419	-0.311000	0.09066	GAC	TSHR	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000165409		0.453	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHR	HGNC	protein_coding	OTTHUMT00000413364.1		0.00	27	0	C	NM_000369		81610253	+1			no_errors	ENST00000298171	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A
TSPAN11	441631	genome.wustl.edu	37	12	31106947	31106947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr12:31106947C>T	ENST00000261177.9	+	2	81	c.22C>T	c.(22-24)Cag>Tag	p.Q8*	TSPAN11_ENST00000535215.1_Intron|TSPAN11_ENST00000545802.1_Nonsense_Mutation_p.Q8*|TSPAN11_ENST00000546076.1_Nonsense_Mutation_p.Q8*|TSPAN11_ENST00000544427.1_Intron	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	8						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TAAGACTGAGCAGGACGACTG	0.512																																																	0													224.0	170.0	188.0					12																	31106947		2203	4300	6503	SO:0001587	stop_gained	0				CCDS31765.1	12p11.21	2013-02-14				ENSG00000110900		"""Tetraspanins"""	30795	protein-coding gene	gene with protein product							Standard	NM_001080509		Approved		uc001rjp.3	A1L157		ENST00000261177.9:c.22C>T	12.37:g.31106947C>T	ENSP00000261177:p.Gln8*		A1L158|B2RUX6	Nonsense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.Q8*	ENST00000261177.9	37	c.22	CCDS31765.1	12	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865705	0.51588	.	.	ENSG00000110900	ENST00000545802;ENST00000546076;ENST00000261177	.	.	.	3.35	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0633	0.30646	0.242:0.7579:0.0:0.0	.	.	.	.	X	8	.	ENSP00000261177:Q8X	Q	+	1	0	TSPAN11	30998214	1.000000	0.71417	0.990000	0.47175	0.548000	0.35241	1.648000	0.37271	1.843000	0.53566	0.455000	0.32223	CAG	TSPAN11	-	NULL	ENSG00000110900		0.512	TSPAN11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TSPAN11	HGNC	protein_coding	OTTHUMT00000399888.1	-	0.00	39	0	C	XM_497334		31106947	+1	tier1	-	no_errors	ENST00000261177	ensembl	human	known	74_37	nonsense	7.41	50	4	SNP	1.000	T
TTC3	7267	genome.wustl.edu	37	21	38467744	38467744	+	Splice_Site	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr21:38467744G>T	ENST00000399017.2	+	9	3529	c.782G>T	c.(781-783)aGa>aTa	p.R261I	TTC3_ENST00000399010.1_Splice_Site_p.R261I|TTC3_ENST00000355666.1_Splice_Site_p.R261I|TTC3_ENST00000354749.2_Splice_Site_p.R261I|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Intron	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	261					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ATTGAATATAGGTAAGAGCAA	0.333																																					Ovarian(38;194 1649 35661)												0													60.0	65.0	63.0					21																	38467744		2203	4299	6502	SO:0001630	splice_region_variant	0			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.782+1G>T	21.37:g.38467744G>T			A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.R261I	ENST00000399017.2	37	c.782	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838145	0.50951	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000399010;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.59906	1.22;1.22;1.22;0.23;0.23;0.23;0.23	5.34	5.34	0.76211	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.432661	0.21160	N	0.079163	T	0.52741	0.1753	N	0.04018	-0.295	0.80722	D	1	D	0.58970	0.984	P	0.58331	0.837	T	0.63721	-0.6573	10	0.62326	D	0.03	-14.2008	16.3342	0.83052	0.0:0.0:1.0:0.0	.	261	P53804	TTC3_HUMAN	I	261;261;243;261;261;261;261	ENSP00000403943:R261I;ENSP00000408456:R261I;ENSP00000391891:R243I;ENSP00000347889:R261I;ENSP00000381974:R261I;ENSP00000381981:R261I;ENSP00000346791:R261I	ENSP00000346791:R261I	R	+	2	0	TTC3	37389614	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.339000	0.65953	2.673000	0.90976	0.650000	0.86243	AGA	TTC3	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000182670		0.333	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1		0.00	52	0	G		Missense_Mutation	38467744	+1			no_errors	ENST00000354749	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179579781	179579781	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:179579781C>T	ENST00000591111.1	-	88	25405	c.25181G>A	c.(25180-25182)gGg>gAg	p.G8394E	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7467E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G8711E			Q8WZ42	TITIN_HUMAN	titin	12568	Ig-like 66.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G7467E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGATATTCCCCAATGTCTGC	0.448																																																	1	Substitution - Missense(1)	lung(1)											264.0	256.0	259.0					2																	179579781		2008	4178	6186	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25181G>A	2.37:g.179579781C>T	ENSP00000465570:p.Gly8394Glu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.G7467E	ENST00000591111.1	37	c.22400		2	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813620	0.50527	.	.	ENSG00000155657	ENST00000342992	T	0.77750	-1.12	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94192	0.8136	H	0.99454	4.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96162	0.9116	9	0.87932	D	0	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	8394	Q8WZ42	TITIN_HUMAN	E	7467	ENSP00000343764:G7467E	ENSP00000343764:G7467E	G	-	2	0	TTN	179288026	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	7.818000	0.86416	2.813000	0.96785	0.655000	0.94253	GGG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000155657		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	27	0	C	NM_133378		179579781	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179597268	179597268	+	Missense_Mutation	SNP	A	A	G			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:179597268A>G	ENST00000591111.1	-	54	15793	c.15569T>C	c.(15568-15570)cTg>cCg	p.L5190P	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L4263P|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L5507P			Q8WZ42	TITIN_HUMAN	titin	12557	Ig-like 32.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAGAGTTCCAGGGAACTCTC	0.433																																																	0													54.0	52.0	53.0					2																	179597268		1844	4088	5932	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.15569T>C	2.37:g.179597268A>G	ENSP00000465570:p.Leu5190Pro		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L4263P	ENST00000591111.1	37	c.12788		2	.	.	.	.	.	.	.	.	.	.	A	9.594	1.127033	0.20959	.	.	ENSG00000155657	ENST00000342992	T	0.73469	-0.75	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92273	0.7549	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95196	0.8312	9	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	5190	Q8WZ42	TITIN_HUMAN	P	4263	ENSP00000343764:L4263P	ENSP00000343764:L4263P	L	-	2	0	TTN	179305513	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	CTG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	29	0	A	NM_133378		179597268	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	G
PRDM7	11105	genome.wustl.edu	37	16	90160255	90160255	+	5'Flank	SNP	T	T	G	rs368808460		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr16:90160255T>G	ENST00000569206.1	-	0	0				TUBB8P7_ENST00000564451.1_RNA|TUBB8P7_ENST00000567960.1_RNA			Q9NQW5	PRDM7_HUMAN	PR domain containing 7						regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		cgccaggggattcacaggtgg	0.577																																																	0																																										SO:0001631	upstream_gene_variant	0			AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990		16.37:g.90160255T>G	Exception_encountered		A4Q9G8|Q08EM4|Q9NQW4	RNA	SNP	-	NULL	ENST00000569206.1	37	NULL		16																																																																																			TUBB8P7	-	-	ENSG00000261812		0.577	PRDM7-009	KNOWN	basic	processed_transcript	TUBB8P7	HGNC	protein_coding	OTTHUMT00000420855.1		0.00	92	0	T			90160255	+1			no_errors	ENST00000564451	ensembl	human	known	74_37	rna	5.83	113	7	SNP	0.134	G
TUBBP5	643224	genome.wustl.edu	37	9	141069114	141069114	+	RNA	SNP	G	G	A	rs371804903		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr9:141069114G>A	ENST00000503395.1	+	0	813									tubulin, beta pseudogene 5																		tcatcaatctgggacaggtgc	0.418																																																	0																																												0			AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141069114G>A				RNA	SNP	-	NULL	ENST00000503395.1	37	NULL		9																																																																																			TUBBP5	-	-	ENSG00000159247		0.418	TUBBP5-003	KNOWN	basic	processed_transcript	TUBBP5	HGNC	pseudogene	OTTHUMT00000373087.1		0.00	34	0	G	NR_027156		141069114	+1			no_errors	ENST00000503395	ensembl	human	known	74_37	rna	10.00	27	3	SNP	0.015	A
UBA1	7317	genome.wustl.edu	37	X	47072572	47072572	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chrX:47072572C>T	ENST00000335972.6	+	23	3013	c.2830C>T	c.(2830-2832)Cgt>Tgt	p.R944C	UBA1_ENST00000377269.3_Missense_Mutation_p.R392C|UBA1_ENST00000377351.4_Missense_Mutation_p.R944C	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	944					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGCCGCACCACGTCACCAGGT	0.557																																																	0													52.0	41.0	45.0					X																	47072572		2203	4300	6503	SO:0001583	missense	0			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.2830C>T	X.37:g.47072572C>T	ENSP00000338413:p.Arg944Cys		Q5JRR8|Q96E13	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.R944C	ENST00000335972.6	37	c.2830	CCDS14275.1	X	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773974	0.49786	.	.	ENSG00000130985	ENST00000377351;ENST00000335972;ENST00000377269	T;T;T	0.46451	0.87;0.87;1.43	5.34	5.34	0.76211	Ubiquitin-activating enzyme e1, C-terminal (1);	0.272302	0.35525	N	0.003142	T	0.27063	0.0663	N	0.15975	0.35	0.46061	D	0.998842	B;B	0.19331	0.035;0.005	B;B	0.18561	0.022;0.007	T	0.08371	-1.0725	10	0.62326	D	0.03	-6.005	10.8937	0.47010	0.3058:0.6942:0.0:0.0	.	392;944	Q5JRR6;P22314	.;UBA1_HUMAN	C	944;944;392	ENSP00000366568:R944C;ENSP00000338413:R944C;ENSP00000366481:R392C	ENSP00000338413:R944C	R	+	1	0	UBA1	46957516	0.993000	0.37304	0.997000	0.53966	0.989000	0.77384	3.833000	0.55790	2.398000	0.81561	0.529000	0.55759	CGT	UBA1	-	pfam_Ub-activating_enz_e1_C,tigrfam_UBQ-activ_enz_E1	ENSG00000130985		0.557	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA1	HGNC	protein_coding	OTTHUMT00000056389.1		0.00	15	0	C	NM_003334		47072572	+1			no_errors	ENST00000335972	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.999	T
UBAP2L	9898	genome.wustl.edu	37	1	154232491	154232491	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:154232491G>T	ENST00000361546.2	+	21	2606	c.2564G>T	c.(2563-2565)aGc>aTc	p.S855I	UBAP2L_ENST00000271877.7_Missense_Mutation_p.S866I|SNORA58_ENST00000364259.1_RNA|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S855I|UBAP2L_ENST00000428931.1_Missense_Mutation_p.S855I			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	855					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCCTGGCCAGCAACCCTTAT	0.473																																																	0													87.0	86.0	86.0					1																	154232491		2203	4300	6503	SO:0001583	missense	0			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2564G>T	1.37:g.154232491G>T	ENSP00000355343:p.Ser855Ile		B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.S855I	ENST00000361546.2	37	c.2564	CCDS1063.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.66|18.66	3.670744|3.670744	0.67814|0.67814	.|.	.|.	ENSG00000143569|ENSG00000143569	ENST00000433615;ENST00000428595|ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	.|T;T;T;T	.|0.30981	.|1.51;1.51;1.51;1.51	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.089163	.|0.85682	.|D	.|0.000000	T|T	0.25005|0.25005	0.0607|0.0607	L|L	0.57536|0.57536	1.79|1.79	0.39877|0.39877	D|D	0.973585|0.973585	.|P;P;P;P;D;P;B	.|0.53885	.|0.757;0.899;0.899;0.899;0.963;0.729;0.374	.|B;P;P;P;P;B;B	.|0.46796	.|0.324;0.469;0.469;0.469;0.527;0.335;0.241	T|T	0.07139|0.07139	-1.0788|-1.0788	5|10	.|0.87932	.|D	.|0	-8.3503|-8.3503	11.0717|11.0717	0.48008|0.48008	0.0841:0.0:0.9159:0.0|0.0841:0.0:0.9159:0.0	.|.	.|769;866;848;855;351;855;855	.|B4DZJ6;F8W726;Q14157-4;Q14157-1;C9JD99;Q14157-3;Q14157	.|.;.;.;.;.;.;UBP2L_HUMAN	H|I	185;133|855;855;351;351;866;855	.|ENSP00000345308:S855I;ENSP00000389445:S855I;ENSP00000271877:S866I;ENSP00000355343:S855I	.|ENSP00000271877:S866I	Q|S	+|+	3|2	2|0	UBAP2L|UBAP2L	152499115|152499115	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.986000|2.986000	0.49370|0.49370	2.621000|2.621000	0.88768|0.88768	0.650000|0.650000	0.86243|0.86243	CAG|AGC	UBAP2L	-	NULL	ENSG00000143569		0.473	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1	-	0.00	80	0	G	NM_014847		154232491	+1	tier1	-	no_errors	ENST00000361546	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T
UGT1A7	54577	genome.wustl.edu	37	2	234591302	234591302	+	Missense_Mutation	SNP	C	C	T	rs371311391		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:234591302C>T	ENST00000373426.3	+	1	719	c.719C>T	c.(718-720)aCg>aTg	p.T240M	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	240					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)			NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	ACCCCTGTCACGGCATATGAT	0.408																																																	0								C	,,MET/THR,	0,4406		0,0,2203	200.0	211.0	208.0		,,719,	1.1	0.0	2		208	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A9	NM_019075.2,NM_019076.4,NM_019077.2,NM_021027.2	,,81,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	,,240/531,	234591302	1,13005	2203	4300	6503	SO:0001583	missense	0			U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"""UDP glucuronosyltransferases"""	12539	other	complex locus constituent		606432	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.719C>T	2.37:g.234591302C>T	ENSP00000362525:p.Thr240Met		B8K293|O00473	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.T240M	ENST00000373426.3	37	c.719	CCDS2506.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.81|15.81	2.944214|2.944214	0.53079|0.53079	0.0|0.0	1.16E-4|1.16E-4	ENSG00000244122|ENSG00000244122	ENST00000485022|ENST00000373426	.|T	.|0.07216	.|3.21	4.16|4.16	1.09|1.09	0.20402|0.20402	.|.	.|.	.|.	.|.	.|.	T|T	0.35799|0.35799	0.0944|0.0944	H|H	0.95437|0.95437	3.67|3.67	0.09310|0.09310	N|N	0.999997|0.999997	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.70487	.|0.969;0.969	T|T	0.11518|0.11518	-1.0584|-1.0584	5|9	.|0.87932	.|D	.|0	.|.	9.2286|9.2286	0.37423|0.37423	0.0:0.6491:0.2727:0.0782|0.0:0.6491:0.2727:0.0782	.|.	.|240;240	.|Q5DSZ7;Q9HAW7	.|.;UD17_HUMAN	W|M	97|240	.|ENSP00000362525:T240M	.|ENSP00000362525:T240M	R|T	+|+	1|2	2|0	UGT1A7|UGT1A7	234256041|234256041	0.072000|0.072000	0.21174|0.21174	0.045000|0.045000	0.18777|0.18777	0.128000|0.128000	0.20619|0.20619	1.531000|1.531000	0.36018|0.36018	0.393000|0.393000	0.25203|0.25203	0.485000|0.485000	0.47835|0.47835	CGG|ACG	UGT1A7	-	pfam_UDP_glucos_trans	ENSG00000244122		0.408	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A7	HGNC	protein_coding	OTTHUMT00000130614.1	-	0.00	55	0	C	NM_019077		234591302	+1	tier1	-	no_errors	ENST00000373426	ensembl	human	known	74_37	missense	29.67	64	27	SNP	0.193	T
UNC5B	219699	genome.wustl.edu	37	10	73039676	73039676	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr10:73039676G>A	ENST00000335350.6	+	2	594	c.178G>A	c.(178-180)Gtg>Atg	p.V60M	UNC5B_ENST00000373192.4_Missense_Mutation_p.V60M	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	60	Ig-like.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CGCCTACATTGTGAAGAACAA	0.622																																																	0													71.0	69.0	70.0					10																	73039676		2203	4300	6503	SO:0001583	missense	0			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.178G>A	10.37:g.73039676G>A	ENSP00000334329:p.Val60Met		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.V60M	ENST00000335350.6	37	c.178	CCDS7309.1	10	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894722	0.91962	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.22945	1.93;1.93	4.52	4.52	0.55395	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.53562	0.1804	M	0.79343	2.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61332	-0.7084	10	0.72032	D	0.01	-21.2808	17.2464	0.87029	0.0:0.0:1.0:0.0	.	60;60	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	M	60	ENSP00000334329:V60M;ENSP00000362288:V60M	ENSP00000334329:V60M	V	+	1	0	UNC5B	72709682	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.021000	0.88750	2.051000	0.60960	0.561000	0.74099	GTG	UNC5B	-	smart_Ig_sub	ENSG00000107731		0.622	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5B	HGNC	protein_coding	OTTHUMT00000048541.1	-	0.00	33	0	G	NM_170744		73039676	+1	tier1	-	no_errors	ENST00000335350	ensembl	human	known	74_37	missense	40.32	36	25	SNP	1.000	A
UPK3A	7380	genome.wustl.edu	37	22	45684984	45684984	+	Missense_Mutation	SNP	G	G	C			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr22:45684984G>C	ENST00000216211.4	+	4	563	c.531G>C	c.(529-531)gaG>gaC	p.E177D	UPK3A_ENST00000396082.2_Intron	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	177					cell morphogenesis (GO:0000902)|epithelial cell differentiation (GO:0030855)|kidney development (GO:0001822)|potassium ion homeostasis (GO:0055075)|sodium ion homeostasis (GO:0055078)|urea transport (GO:0015840)|urinary bladder development (GO:0060157)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GCTTGGTAGAGGACCAGACCC	0.607																																																	0													91.0	84.0	86.0					22																	45684984		2203	4300	6503	SO:0001583	missense	0			AB010637	CCDS14064.1, CCDS54539.1	22q13.31	2005-11-14	2003-07-29	2003-07-30	ENSG00000100373	ENSG00000100373			12580	protein-coding gene	gene with protein product		611559	"""uroplakin 3"""	UPK3		9818021	Standard	NM_006953		Approved		uc003bfy.3	O75631	OTTHUMG00000151339	ENST00000216211.4:c.531G>C	22.37:g.45684984G>C	ENSP00000216211:p.Glu177Asp		B0QY25|O60261|Q32N05|Q5TII6	Missense_Mutation	SNP	NULL	p.E177D	ENST00000216211.4	37	c.531	CCDS14064.1	22	.	.	.	.	.	.	.	.	.	.	g	9.204	1.029290	0.19512	.	.	ENSG00000100373	ENST00000216211	T	0.64260	-0.09	4.82	2.66	0.31614	.	1.813340	0.02848	N	0.128720	T	0.47911	0.1471	N	0.22421	0.69	0.80722	D	1	B	0.19817	0.039	B	0.18871	0.023	T	0.22034	-1.0228	10	0.15952	T	0.53	-6.764	6.4513	0.21906	0.0951:0.0:0.7299:0.175	.	177	O75631	UPK3A_HUMAN	D	177	ENSP00000216211:E177D	ENSP00000216211:E177D	E	+	3	2	UPK3A	44063648	0.983000	0.35010	0.918000	0.36340	0.746000	0.42486	0.551000	0.23361	0.405000	0.25532	-0.785000	0.03343	GAG	UPK3A	-	NULL	ENSG00000100373		0.607	UPK3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UPK3A	HGNC	protein_coding	OTTHUMT00000322276.1	-	0.00	30	0	G	NM_006953		45684984	+1	tier1	-	no_errors	ENST00000216211	ensembl	human	known	74_37	missense	41.67	14	10	SNP	0.943	C
UROS	7390	genome.wustl.edu	37	10	127486714	127486714	+	Splice_Site	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr10:127486714C>A	ENST00000368797.4	-	7	619	c.395G>T	c.(394-396)aGg>aTg	p.R132M	UROS_ENST00000462490.1_5'UTR|UROS_ENST00000368786.1_Splice_Site_p.R132M	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	132					cellular response to amine stimulus (GO:0071418)|cellular response to arsenic-containing substance (GO:0071243)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to antibiotic (GO:0046677)|small molecule metabolic process (GO:0044281)|uroporphyrinogen III biosynthetic process (GO:0006780)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|uroporphyrinogen-III synthase activity (GO:0004852)			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				TGAGGACTCCCCTGTGAATAA	0.532																																																	0													77.0	75.0	76.0					10																	127486714		2203	4300	6503	SO:0001630	splice_region_variant	0			J03824	CCDS7648.1	10q25.2-q26.3	2008-07-31	2008-07-31		ENSG00000188690	ENSG00000188690	4.2.1.75		12592	protein-coding gene	gene with protein product	"""congenital erythropoietic porphyria"""	606938				2037278	Standard	NM_000375		Approved		uc001lix.4	P10746	OTTHUMG00000019236	ENST00000368797.4:c.395-1G>T	10.37:g.127486714C>A			B2RC13|D3DRF7|Q9H2T1	Missense_Mutation	SNP	pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth	p.R132M	ENST00000368797.4	37	c.395	CCDS7648.1	10	.	.	.	.	.	.	.	.	.	.	C	14.83	2.652109	0.47362	.	.	ENSG00000188690	ENST00000368797;ENST00000368786;ENST00000420761	D;D;D	0.92699	-3.09;-3.09;-3.09	4.81	2.85	0.33270	Tetrapyrrole biosynthesis, uroporphyrinogen III synthase (2);	0.259165	0.42420	D	0.000704	D	0.90882	0.7135	M	0.63428	1.95	0.80722	D	1	P	0.46142	0.873	P	0.48571	0.582	D	0.87880	0.2677	10	0.46703	T	0.11	.	7.2508	0.26148	0.0:0.7749:0.0:0.2251	.	132	P10746	HEM4_HUMAN	M	132;132;104	ENSP00000357787:R132M;ENSP00000357775:R132M;ENSP00000414833:R104M	ENSP00000357775:R132M	R	-	2	0	UROS	127476704	0.855000	0.29742	0.996000	0.52242	0.876000	0.50452	0.379000	0.20585	0.654000	0.30846	0.655000	0.94253	AGG	UROS	-	pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth	ENSG00000188690		0.532	UROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROS	HGNC	protein_coding	OTTHUMT00000050929.1		0.00	48	0	C	NM_000375	Missense_Mutation	127486714	-1			no_errors	ENST00000368786	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	A
UTP18	51096	genome.wustl.edu	37	17	49354628	49354628	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr17:49354628G>A	ENST00000225298.7	+	7	1032	c.975G>A	c.(973-975)atG>atA	p.M325I		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	325					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			TCTATGACATGCTGGCTGGAA	0.418																																																	0													129.0	118.0	122.0					17																	49354628		1913	4118	6031	SO:0001583	missense	0			AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"""WD repeat domain containing"""	24274	protein-coding gene	gene with protein product		612816	"""WD repeat domain 50"""	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.975G>A	17.37:g.49354628G>A	ENSP00000225298:p.Met325Ile		Q9H4N6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M325I	ENST00000225298.7	37	c.975	CCDS42362.1	17	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962653	0.92791	.	.	ENSG00000011260	ENST00000225298;ENST00000508506;ENST00000506940	D	0.97480	-4.4	5.94	5.94	0.96194	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.97936	0.9321	L	0.59912	1.85	0.80722	D	1	D	0.64830	0.994	D	0.66351	0.943	D	0.97585	1.0113	10	0.45353	T	0.12	-25.6973	20.3591	0.98849	0.0:0.0:1.0:0.0	.	325	Q9Y5J1	UTP18_HUMAN	I	325;301;35	ENSP00000225298:M325I	ENSP00000225298:M325I	M	+	3	0	UTP18	46709627	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	8.314000	0.89980	2.816000	0.96949	0.561000	0.74099	ATG	UTP18	-	superfamily_WD40_repeat_dom	ENSG00000011260		0.418	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP18	HGNC	protein_coding	OTTHUMT00000368654.1	-	0.00	66	0	G	NM_016001		49354628	+1	tier1	-	no_errors	ENST00000225298	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	A
XIRP2	129446	genome.wustl.edu	37	2	168099862	168099862	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:168099862G>A	ENST00000409195.1	+	9	2049	c.1960G>A	c.(1960-1962)Gct>Act	p.A654T	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.A432T|XIRP2_ENST00000295237.9_Missense_Mutation_p.A654T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	479					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGTCTGCACAGCTCGGTGGAT	0.443																																																	0													66.0	64.0	65.0					2																	168099862		1894	4120	6014	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1960G>A	2.37:g.168099862G>A	ENSP00000386840:p.Ala654Thr		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.A654T	ENST00000409195.1	37	c.1960	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723600	0.68959	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.05925	3.38;3.38;3.37	5.93	5.04	0.67666	.	0.051456	0.85682	D	0.000000	T	0.16938	0.0407	M	0.72894	2.215	0.58432	D	0.999996	P;D;D	0.55605	0.952;0.972;0.972	P;P;P	0.51806	0.481;0.68;0.68	T	0.00063	-1.2154	10	0.87932	D	0	-10.9239	15.5263	0.75910	0.0672:0.0:0.9328:0.0	.	479;479;432	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	654;654;432	ENSP00000386840:A654T;ENSP00000295237:A654T;ENSP00000387255:A432T	ENSP00000295237:A654T	A	+	1	0	XIRP2	167808108	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	6.136000	0.71703	2.814000	0.96858	0.655000	0.94253	GCT	XIRP2	-	NULL	ENSG00000163092		0.443	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1		0.00	54	0	G	NM_152381		168099862	+1			no_errors	ENST00000295237	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	A
XIST	7503	genome.wustl.edu	37	X	73068515	73068515	+	lincRNA	SNP	G	G	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chrX:73068515G>A	ENST00000429829.1	-	0	4073					NR_001564.2				X inactive specific transcript (non-protein coding)																		ACATCCCACAGAAGGTGGGAT	0.398																																																	0													38.0	36.0	37.0					X																	73068515		876	1990	2866			0			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73068515G>A				RNA	SNP	-	NULL	ENST00000429829.1	37	NULL		X																																																																																			XIST	-	-	ENSG00000229807		0.398	XIST-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000057239.1	-	0.00	21	0	G	NR_001564		73068515	-1	tier1	-	no_errors	ENST00000429829	ensembl	human	known	74_37	rna	27.78	13	5	SNP	0.000	A
YAP1	10413	genome.wustl.edu	37	11	102100570	102100570	+	Missense_Mutation	SNP	C	C	G			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:102100570C>G	ENST00000282441.5	+	9	1802	c.1414C>G	c.(1414-1416)Cca>Gca	p.P472A	YAP1_ENST00000524575.1_Missense_Mutation_p.P294A|YAP1_ENST00000526343.1_Missense_Mutation_p.P418A|YAP1_ENST00000537274.1_Missense_Mutation_p.P460A|RP11-864G5.3_ENST00000526310.1_RNA|YAP1_ENST00000345877.2_Missense_Mutation_p.P422A|YAP1_ENST00000528834.1_3'UTR|YAP1_ENST00000531439.1_Missense_Mutation_p.P456A	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	472	Transactivation domain.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		GGAGCTGATGCCAAGTCTGCA	0.453																																					Colon(50;247 1103 7861 28956)												0													134.0	128.0	130.0					11																	102100570		2203	4299	6502	SO:0001583	missense	0				CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"""Yes-associated protein 1, 65kDa"""			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.1414C>G	11.37:g.102100570C>G	ENSP00000282441:p.Pro472Ala		B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Missense_Mutation	SNP	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.P472A	ENST00000282441.5	37	c.1414	CCDS44716.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.587617|4.587617	0.86851|0.86851	.|.	.|.	ENSG00000137693|ENSG00000137693	ENST00000529029|ENST00000526343;ENST00000282441;ENST00000537274;ENST00000345877;ENST00000445250;ENST00000531439;ENST00000524575	.|T;T;T	.|0.61859	.|0.07;0.09;0.29	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66723|0.66723	0.2818|0.2818	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|0.993;1.0;0.999;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.971;0.999;0.994;0.999;0.996;0.997	T|T	0.62723|0.62723	-0.6794|-0.6794	5|10	.|0.34782	.|T	.|0.22	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|294;389;418;456;472;422	.|B4DTY1;F5GWC5;E9PRV2;P46937-2;P46937;P46937-3	.|.;.;.;.;YAP1_HUMAN;.	W|A	225|418;472;460;422;389;456;294	.|ENSP00000434134:P418A;ENSP00000331023:P422A;ENSP00000435602:P294A	.|ENSP00000282441:P472A	C|P	+|+	3|1	2|0	YAP1|YAP1	101605780|101605780	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	5.675000|5.675000	0.68123|0.68123	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	TGC|CCA	YAP1	-	NULL	ENSG00000137693		0.453	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YAP1	HGNC	protein_coding	OTTHUMT00000394151.1	-	0.00	62	0	C	NM_006106		102100570	+1	tier1	-	no_errors	ENST00000282441	ensembl	human	known	74_37	missense	62.79	16	27	SNP	1.000	G
YTHDF3	253943	genome.wustl.edu	37	8	64124994	64124995	+	3'UTR	INS	-	-	A	rs71671324	byFrequency	TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr8:64124994_64124995insA	ENST00000517371.1	+	0	3113_3114				YTHDF3_ENST00000539294.1_3'UTR|YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_3'UTR			Q7Z739	YTHD3_HUMAN	YTH domain family, member 3								N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			CAGTTTGCAATAAAAAAAAATG	0.272																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000517371.1:c.*2731->A	8.37:g.64125003_64125003dupA			B3KXL4|Q63Z37|Q659A3	RNA	INS	-	NULL	ENST00000517371.1	37	NULL		8																																																																																			YTHDF3	-	-	ENSG00000185728		0.272	YTHDF3-010	PUTATIVE	basic	protein_coding	YTHDF3	HGNC	protein_coding	OTTHUMT00000378466.4		0.00	53	0	-	NM_152758		64124995	+1	tier1		no_errors	ENST00000521674	ensembl	human	known	74_37	rna	6.67	42	3	INS	1.000:0.997	A
ZNF112	7771	genome.wustl.edu	37	19	44833574	44833574	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:44833574G>T	ENST00000337401.4	-	5	842	c.754C>A	c.(754-756)Caa>Aaa	p.Q252K	ZNF112_ENST00000536500.1_Missense_Mutation_p.Q269K|ZNF112_ENST00000354340.4_Missense_Mutation_p.Q246K	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	252					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TCCTCTGTTTGAATTGACTCC	0.423																																																	0													123.0	120.0	121.0					19																	44833574		2203	4300	6503	SO:0001583	missense	0			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.754C>A	19.37:g.44833574G>T	ENSP00000337081:p.Gln252Lys		A4FU53|Q9HCA7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q269K	ENST00000337401.4	37	c.805	CCDS54276.1	19	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845522	0.51164	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.14893	2.47;2.47;2.47	4.85	1.28	0.21552	.	0.544626	0.13898	N	0.355109	T	0.12944	0.0314	L	0.33624	1.015	0.09310	N	1	B;B;B	0.16802	0.011;0.019;0.011	B;B;B	0.09377	0.002;0.004;0.002	T	0.22312	-1.0220	10	0.62326	D	0.03	-2.1527	9.457	0.38760	0.0:0.1438:0.5768:0.2794	.	251;269;252	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	K	252;252;246;269;251	ENSP00000337081:Q252K;ENSP00000346305:Q246K;ENSP00000441990:Q269K	ENSP00000253426:Q251K	Q	-	1	0	ZNF285	49525414	0.011000	0.17503	0.000000	0.03702	0.048000	0.14542	0.559000	0.23485	0.270000	0.21984	0.561000	0.74099	CAA	ZNF112	-	NULL	ENSG00000062370		0.423	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF112	HGNC	protein_coding	OTTHUMT00000460744.1		0.00	10	0	G	NM_013380		44833574	-1			no_errors	ENST00000536500	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.060	T
ZNF256	10172	genome.wustl.edu	37	19	58453931	58453931	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:58453931G>T	ENST00000282308.3	-	3	441	c.245C>A	c.(244-246)gCc>gAc	p.A82D	ZNF256_ENST00000598928.1_Missense_Mutation_p.P40T	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	82	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		AGAAGGAAGGGCCTTAGGAAT	0.512																																					NSCLC(55;1313 1552 8040 11996)												0													132.0	129.0	130.0					19																	58453931		2203	4300	6503	SO:0001583	missense	0			AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.245C>A	19.37:g.58453931G>T	ENSP00000282308:p.Ala82Asp		B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A82D	ENST00000282308.3	37	c.245	CCDS12966.1	19	.	.	.	.	.	.	.	.	.	.	.	13.77	2.335309	0.41398	.	.	ENSG00000152454	ENST00000282308	T	0.07800	3.16	2.86	-0.766	0.11020	Krueppel-associated box (1);	.	.	.	.	T	0.04227	0.0117	N	0.24115	0.695	0.09310	N	1	P	0.36010	0.532	B	0.33846	0.171	T	0.37033	-0.9723	9	0.33141	T	0.24	.	1.241	0.01963	0.1265:0.1951:0.3145:0.3639	.	82	Q9Y2P7	ZN256_HUMAN	D	82	ENSP00000282308:A82D	ENSP00000282308:A82D	A	-	2	0	ZNF256	63145743	0.000000	0.05858	0.001000	0.08648	0.059000	0.15707	0.021000	0.13489	-0.055000	0.13244	0.467000	0.42956	GCC	ZNF256	-	pfscan_Krueppel-associated_box	ENSG00000152454		0.512	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF256	HGNC	protein_coding	OTTHUMT00000466702.1		0.00	63	0	G			58453931	-1			no_errors	ENST00000282308	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.000	T
ZNF287	57336	genome.wustl.edu	37	17	16456146	16456146	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr17:16456146G>T	ENST00000395824.1	-	6	1927	c.1310C>A	c.(1309-1311)gCa>gAa	p.A437E	ZNF287_ENST00000395825.3_Missense_Mutation_p.A437E			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	430					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		AGTAAGGTGTGCACGCTGGCT	0.448																																																	0													138.0	122.0	127.0					17																	16456146		2203	4300	6503	SO:0001583	missense	0			AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1310C>A	17.37:g.16456146G>T	ENSP00000379168:p.Ala437Glu		Q6IAG1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.A437E	ENST00000395824.1	37	c.1310	CCDS11179.2	17	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190494	0.38707	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.15487	2.42;2.42	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000053	T	0.12135	0.0295	N	0.26092	0.79	0.28400	N	0.918676	P	0.40553	0.721	B	0.31191	0.125	T	0.11446	-1.0587	10	0.54805	T	0.06	.	16.6061	0.84830	0.0:0.0:1.0:0.0	.	430	Q9HBT7	ZN287_HUMAN	E	437	ENSP00000379169:A437E;ENSP00000379168:A437E	ENSP00000379168:A437E	A	-	2	0	ZNF287	16396871	0.000000	0.05858	0.999000	0.59377	0.039000	0.13416	0.491000	0.22419	2.873000	0.98535	0.561000	0.74099	GCA	ZNF287	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000141040		0.448	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF287	HGNC	protein_coding	OTTHUMT00000130504.1	-	0.00	55	0	G			16456146	-1	tier1	-	no_errors	ENST00000395824	ensembl	human	known	74_37	missense	6.45	57	4	SNP	0.829	T
ZNF438	220929	genome.wustl.edu	37	10	31139162	31139162	+	Missense_Mutation	SNP	G	G	T	rs199999473		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr10:31139162G>T	ENST00000361310.3	-	6	501	c.172C>A	c.(172-174)Cgc>Agc	p.R58S	ZNF438_ENST00000442986.1_Missense_Mutation_p.R58S|ZNF438_ENST00000444692.2_Missense_Mutation_p.R48S|ZNF438_ENST00000538351.2_Missense_Mutation_p.R9S|ZNF438_ENST00000331737.6_Missense_Mutation_p.R48S|ZNF438_ENST00000413025.1_Missense_Mutation_p.R58S|ZNF438_ENST00000452305.1_Missense_Mutation_p.R48S|ZNF438_ENST00000436087.2_Missense_Mutation_p.R58S|ZNF438_ENST00000375311.1_5'UTR			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	58					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TGATCAGAGCGTGATGGTGAA	0.512																																																	0													181.0	168.0	172.0					10																	31139162		2203	4300	6503	SO:0001583	missense	0			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.172C>A	10.37:g.31139162G>T	ENSP00000354663:p.Arg58Ser		A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R58S	ENST00000361310.3	37	c.172	CCDS7168.1	10	.	.	.	.	.	.	.	.	.	.	G	9.126	1.010292	0.19277	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896	T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.63	-1.55	0.08558	.	1.205290	0.05520	N	0.561984	T	0.28167	0.0695	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.14062	-1.0486	10	0.40728	T	0.16	-2.3427	2.9611	0.05893	0.1905:0.3324:0.3644:0.1127	.	58;48	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	S	48;58;58;58;58;48;48;9;58	ENSP00000333571:R48S;ENSP00000354663:R58S;ENSP00000406934:R58S;ENSP00000412363:R58S;ENSP00000387546:R58S;ENSP00000413060:R48S;ENSP00000410898:R48S;ENSP00000445461:R9S	ENSP00000333571:R48S	R	-	1	0	ZNF438	31179168	0.009000	0.17119	0.000000	0.03702	0.570000	0.35934	0.019000	0.13444	-0.226000	0.09899	0.655000	0.94253	CGC	ZNF438	-	NULL	ENSG00000183621		0.512	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF438	HGNC	protein_coding	OTTHUMT00000277006.1		0.00	63	0	G	NM_182755		31139162	-1			no_errors	ENST00000361310	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.000	T
ZNF445	353274	genome.wustl.edu	37	3	44489726	44489726	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:44489726G>T	ENST00000396077.2	-	8	1784	c.1437C>A	c.(1435-1437)caC>caA	p.H479Q	ZNF445_ENST00000425708.2_Missense_Mutation_p.H479Q	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	479					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CTCCCACTGTGTGAAGACTCT	0.453																																																	0													194.0	183.0	187.0					3																	44489726		2203	4300	6503	SO:0001583	missense	0			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.1437C>A	3.37:g.44489726G>T	ENSP00000379387:p.His479Gln		Q3MJD1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.H479Q	ENST00000396077.2	37	c.1437	CCDS2713.1	3	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124739	0.37533	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.28895	1.59;1.59	3.54	1.74	0.24563	.	0.476015	0.17886	N	0.158693	T	0.52370	0.1730	M	0.92738	3.34	0.34529	D	0.708999	D;D	0.58970	0.984;0.984	P;P	0.55161	0.77;0.77	T	0.66492	-0.5910	10	0.87932	D	0	.	7.582	0.27970	0.2205:0.0:0.7795:0.0	.	467;479	B7ZKX2;P59923	.;ZN445_HUMAN	Q	479	ENSP00000413073:H479Q;ENSP00000379387:H479Q	ENSP00000379387:H479Q	H	-	3	2	ZNF445	44464730	0.031000	0.19500	0.001000	0.08648	0.019000	0.09904	0.328000	0.19681	0.497000	0.27926	0.591000	0.81541	CAC	ZNF445	-	NULL	ENSG00000185219		0.453	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF445	HGNC	protein_coding	OTTHUMT00000256647.2		0.00	21	0	G	NM_181489		44489726	-1			no_errors	ENST00000396077	ensembl	human	known	74_37	missense	12.00	22	3	SNP	0.931	T
ZNF566	84924	genome.wustl.edu	37	19	36963867	36963867	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:36963867G>T	ENST00000434377.2	-	4	259	c.178C>A	c.(178-180)Caa>Aaa	p.Q60K	ZNF566_ENST00000454319.1_Missense_Mutation_p.Q61K|ZNF566_ENST00000424129.2_Missense_Mutation_p.Q60K|ZNF566_ENST00000493391.1_Intron|ZNF566_ENST00000472909.2_Intron|ZNF566_ENST00000392170.2_Missense_Mutation_p.Q61K	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	60	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TCCTTCCCTTGCTCCAAGTAG	0.443																																																	0													250.0	233.0	239.0					19																	36963867		2203	4300	6503	SO:0001583	missense	0			AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.178C>A	19.37:g.36963867G>T	ENSP00000415520:p.Gln60Lys		B7ZL95|Q2M3J1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q61K	ENST00000434377.2	37	c.181	CCDS12494.1	19	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291869	0.59976	.	.	ENSG00000186017	ENST00000454319;ENST00000434377;ENST00000392170;ENST00000424129;ENST00000452939;ENST00000427002	T;T;T;T;T;T	0.00949	5.51;5.51;5.51;5.51;5.51;5.51	4.77	4.77	0.60923	Krueppel-associated box (3);	0.000000	0.30667	N	0.009129	T	0.01695	0.0054	M	0.67517	2.055	0.23959	N	0.996347	P;B	0.36144	0.539;0.236	B;B	0.35727	0.209;0.039	T	0.44159	-0.9346	10	0.40728	T	0.16	.	13.1499	0.59484	0.0:0.0:1.0:0.0	.	61;60	B7ZL95;Q969W8	.;ZN566_HUMAN	K	61;60;61;60;60;61	ENSP00000394207:Q61K;ENSP00000415520:Q60K;ENSP00000376010:Q61K;ENSP00000401259:Q60K;ENSP00000411526:Q60K;ENSP00000400651:Q61K	ENSP00000376010:Q61K	Q	-	1	0	ZNF566	41655707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.417000	0.59822	2.459000	0.83118	0.650000	0.86243	CAA	ZNF566	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000186017		0.443	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF566	HGNC	protein_coding	OTTHUMT00000341054.1		0.00	31	0	G	NM_032838		36963867	-1			no_errors	ENST00000392170	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T
ZNF708	7562	genome.wustl.edu	37	19	21476787	21476787	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:21476787C>A	ENST00000356929.3	-	4	1178	c.981G>T	c.(979-981)aaG>aaT	p.K327N		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	263					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TATGAATCCTCTTATGTGTAG	0.363																																																	0													62.0	64.0	63.0					19																	21476787		2203	4300	6503	SO:0001583	missense	0			X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.981G>T	19.37:g.21476787C>A	ENSP00000349401:p.Lys327Asn		Q6ZMR0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K327N	ENST00000356929.3	37	c.981	CCDS32980.1	19	.	.	.	.	.	.	.	.	.	.	.	11.94	1.788185	0.31593	.	.	ENSG00000182141	ENST00000356929	T	0.07567	3.18	1.05	-0.674	0.11369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11324	0.0276	L	0.41906	1.305	0.09310	N	1	P	0.46621	0.881	P	0.51918	0.684	T	0.21348	-1.0248	9	0.66056	D	0.02	.	6.2049	0.20598	0.0:0.7993:0.0:0.2007	.	327	P17019	ZN708_HUMAN	N	327	ENSP00000349401:K327N	ENSP00000349401:K327N	K	-	3	2	ZNF708	21268627	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-0.011000	0.12721	-0.354000	0.08212	-0.350000	0.07774	AAG	ZNF708	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000182141		0.363	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF708	HGNC	protein_coding	OTTHUMT00000463953.1	-	0.00	35	0	C	NM_021269		21476787	-1	tier1	-	no_errors	ENST00000356929	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.183	A
ZNF587B	100293516	genome.wustl.edu	37	19	58352646	58352646	+	Missense_Mutation	SNP	G	G	C			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:58352646G>C	ENST00000442832.4	+	3	838	c.604G>C	c.(604-606)Gag>Cag	p.E202Q	CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000316462.4_Intron|ZNF587B_ENST00000594901.1_Missense_Mutation_p.E202Q	NM_001204818.1	NP_001191747.1	E7ETH6	Z587B_HUMAN	zinc finger protein 587B	202					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										CAGCAAAACTGAGTGTGTGTC	0.488																																																	0																																										SO:0001583	missense	0			AK299091	CCDS56109.1	19q13.43	2013-01-08				ENSG00000269343		"""Zinc fingers, C2H2-type"", ""-"""	37142	protein-coding gene	gene with protein product							Standard	NM_001204818		Approved		uc021vcp.1	E7ETH6		ENST00000442832.4:c.604G>C	19.37:g.58352646G>C	ENSP00000392410:p.Glu202Gln		B4DR41	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E202Q	ENST00000442832.4	37	c.604	CCDS56109.1	19	.	.	.	.	.	.	.	.	.	.	.	6.111	0.388655	0.11581	.	.	ENSG00000198466	ENST00000442832	T	0.05447	3.44	2.17	-4.33	0.03677	.	.	.	.	.	T	0.05502	0.0145	L	0.32530	0.975	.	.	.	P;B	0.47302	0.893;0.023	P;B	0.45474	0.482;0.004	T	0.16276	-1.0408	7	.	.	.	.	6.6871	0.23152	0.147:0.6269:0.226:0.0	.	202;151	E7ETH6;Q92967	.;.	Q	202	ENSP00000392410:E202Q	.	E	+	1	0	ZNF587	63044458	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.023000	0.03607	-1.360000	0.02172	0.306000	0.20318	GAG	ZNF587B	-	NULL	ENSG00000269343		0.488	ZNF587B-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	ZNF587B	HGNC	protein_coding	OTTHUMT00000466834.2	-	0.00	49	0	G	NM_001204818		58352646	+1	tier1	-	no_errors	ENST00000442832	ensembl	human	known	74_37	missense	25.56	67	23	SNP	0.000	C
ZNF804B	219578	genome.wustl.edu	37	7	88964137	88964137	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:88964137G>T	ENST00000333190.4	+	4	2450	c.1841G>T	c.(1840-1842)aGa>aTa	p.R614I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	614							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAAGGCTGCAGAAAGGCAGTT	0.398										HNSCC(36;0.09)																																							0													67.0	70.0	69.0					7																	88964137		2202	4300	6502	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1841G>T	7.37:g.88964137G>T	ENSP00000329638:p.Arg614Ile		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.R614I	ENST00000333190.4	37	c.1841	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	G	5.497	0.276643	0.10403	.	.	ENSG00000182348	ENST00000333190	T	0.05258	3.47	5.49	-5.65	0.02459	.	1.350010	0.04803	N	0.433763	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	P	0.35363	0.497	B	0.28232	0.087	T	0.41215	-0.9521	10	0.56958	D	0.05	5.0676	8.7158	0.34410	0.6065:0.0963:0.2972:0.0	.	614	A4D1E1	Z804B_HUMAN	I	614	ENSP00000329638:R614I	ENSP00000329638:R614I	R	+	2	0	ZNF804B	88802073	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.026000	0.13599	-1.234000	0.02548	-0.345000	0.07892	AGA	ZNF804B	-	NULL	ENSG00000182348		0.398	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0.00	66	0	G	NM_181646		88964137	+1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	52.38	20	22	SNP	0.000	T
