#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
ADAM12	8038	genome.wustl.edu	37	10	127737976	127737976	+	Missense_Mutation	SNP	C	C	T	rs150641628		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:127737976C>T	ENST00000368679.4	-	16	2081	c.1772G>A	c.(1771-1773)cGg>cAg	p.R591Q	ADAM12_ENST00000467145.1_5'Flank|ADAM12_ENST00000368676.4_Missense_Mutation_p.R591Q	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	591	Cys-rich.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		AATGACTGGCCGGCTGGCACC	0.512																																																	0								C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	90.0	95.0	93.0		1772,1772	4.3	1.0	10	dbSNP_134	93	0,8600		0,0,4300	no	missense,missense	ADAM12	NM_003474.4,NM_021641.3	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	591/910,591/739	127737976	1,13005	2203	4300	6503	SO:0001583	missense	0			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1772G>A	10.37:g.127737976C>T	ENSP00000357668:p.Arg591Gln		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.R591Q	ENST00000368679.4	37	c.1772	CCDS7653.1	10	.	.	.	.	.	.	.	.	.	.	C	34	5.365753	0.95900	2.27E-4	0.0	ENSG00000148848	ENST00000368679;ENST00000368676	T;T	0.21932	1.98;1.98	5.2	4.29	0.51040	ADAM, cysteine-rich (2);	0.000000	0.64402	D	0.000001	T	0.37892	0.1020	L	0.41573	1.285	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.998;0.998;0.999;1.0	T	0.14559	-1.0468	10	0.48119	T	0.1	.	16.0378	0.80642	0.0:0.8658:0.1342:0.0	.	588;588;591;588;591	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	Q	591	ENSP00000357668:R591Q;ENSP00000357665:R591Q	ENSP00000357665:R591Q	R	-	2	0	ADAM12	127727966	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	5.928000	0.70088	1.411000	0.46957	0.655000	0.94253	CGG	ADAM12	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich	ENSG00000148848		0.512	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM12	HGNC	protein_coding	OTTHUMT00000050961.1		0.00	43	0	C			127737976	-1			no_errors	ENST00000368679	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T
ADAM32	203102	genome.wustl.edu	37	8	39079206	39079206	+	Silent	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr8:39079206C>T	ENST00000379907.4	+	13	1438	c.1311C>T	c.(1309-1311)tgC>tgT	p.C437C	ADAM32_ENST00000437682.2_Silent_p.C338C|ADAM32_ENST00000519315.1_Silent_p.C331C	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	437	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AAGGACTGTGCTGCAAAGACT	0.358																																																	0													127.0	116.0	120.0					8																	39079206		1873	4102	5975	SO:0001819	synonymous_variant	0			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1311C>T	8.37:g.39079206C>T			Q8TC42	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.C437	ENST00000379907.4	37	c.1311	CCDS47846.1	8																																																																																			ADAM32	-	pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin	ENSG00000197140		0.358	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM32	HGNC	protein_coding	OTTHUMT00000377089.1	-	0.00	24	0	C	NM_145004		39079206	+1	tier1	-	no_errors	ENST00000379907	ensembl	human	known	74_37	silent	34.09	29	15	SNP	0.995	T
ADAMTS3	9508	genome.wustl.edu	37	4	73188757	73188757	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr4:73188757G>A	ENST00000286657.4	-	6	955	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	307	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTATCATGCGCACCAGGACC	0.363																																					NSCLC(168;1941 2048 2918 13048 43078)												0													184.0	184.0	184.0					4																	73188757		2203	4300	6503	SO:0001583	missense	0			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.919C>T	4.37:g.73188757G>A	ENSP00000286657:p.Arg307Cys		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.R307C	ENST00000286657.4	37	c.919	CCDS3553.1	4	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384852	0.82792	.	.	ENSG00000156140	ENST00000286657	D	0.87412	-2.25	6.06	6.06	0.98353	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.95198	0.8443	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95106	0.8234	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	307	O15072	ATS3_HUMAN	C	307	ENSP00000286657:R307C	ENSP00000286657:R307C	R	-	1	0	ADAMTS3	73407621	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	3.572000	0.53849	2.882000	0.98803	0.655000	0.94253	CGC	ADAMTS3	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000156140		0.363	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	-	0.00	40	0	G			73188757	-1	tier1	-	no_errors	ENST00000286657	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.995	A
ADAMTS4	9507	genome.wustl.edu	37	1	161165502	161165502	+	Intron	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:161165502G>A	ENST00000367996.5	-	4	1519				ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4						defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	AAATCTGGCTGCAGCTGTGGA	0.537																																																	0																																										SO:0001627	intron_variant	0			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1091-77C>T	1.37:g.161165502G>A			Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	RNA	SNP	-	NULL	ENST00000367996.5	37	NULL	CCDS1223.1	1																																																																																			ADAMTS4	-	-	ENSG00000158859		0.537	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS4	HGNC	protein_coding	OTTHUMT00000083066.2	-	0.00	19	0	G	NM_005099		161165502	-1	tier1	-	no_errors	ENST00000478394	ensembl	human	known	74_37	rna	46.67	8	7	SNP	0.003	A
ADAMTSL1	92949	genome.wustl.edu	37	9	18680350	18680350	+	Frame_Shift_Del	DEL	G	G	-	rs199787607		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr9:18680350delG	ENST00000380548.4	+	11	1516	c.1177delG	c.(1177-1179)gggfs	p.G395fs	ADAMTSL1_ENST00000276935.6_Frame_Shift_Del_p.G395fs|ADAMTSL1_ENST00000327883.7_Frame_Shift_Del_p.G395fs|ADAMTSL1_ENST00000380566.4_Frame_Shift_Del_p.G378fs	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	395	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTCCTCGTGTGGGGGGGGCAT	0.587																																																	0													50.0	46.0	48.0					9																	18680350		2203	4300	6503	SO:0001589	frameshift_variant	0			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1177delG	9.37:g.18680350delG	ENSP00000369921:p.Gly395fs		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Frame_Shift_Del	DEL	pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt	p.G395fs	ENST00000380548.4	37	c.1177	CCDS47954.1	9																																																																																			ADAMTSL1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000178031		0.587	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1		0.00	49	0	G			18680350	+1	tier1		no_errors	ENST00000327883	ensembl	human	known	74_37	frame_shift_del	6.45	29	2	DEL	1.000	-
ADRA1B	147	genome.wustl.edu	37	5	159344142	159344142	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr5:159344142G>T	ENST00000306675.3	+	1	353	c.230G>T	c.(229-231)cGg>cTg	p.R77L		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	77					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	CGGCACCTGCGGACGCCCACC	0.612																																																	0													108.0	103.0	105.0					5																	159344142		2203	4300	6503	SO:0001583	missense	0			L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"""GPCR / Class A : Adrenoceptors : alpha"""	278	protein-coding gene	gene with protein product		104220	"""adrenergic, alpha-1B-, receptor"""				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.230G>T	5.37:g.159344142G>T	ENSP00000306662:p.Arg77Leu		B0LPE1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1B_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam	p.R77L	ENST00000306675.3	37	c.230	CCDS4347.1	5	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935424	0.73442	.	.	ENSG00000170214	ENST00000306675	T	0.42513	0.97	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70605	0.3243	M	0.93720	3.45	0.48288	D	0.999624	D	0.76494	0.999	D	0.77557	0.99	T	0.77446	-0.2585	10	0.87932	D	0	.	10.9836	0.47510	0.0872:0.0:0.9128:0.0	.	77	P35368	ADA1B_HUMAN	L	77	ENSP00000306662:R77L	ENSP00000306662:R77L	R	+	2	0	ADRA1B	159276720	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.783000	0.75078	2.536000	0.85505	0.462000	0.41574	CGG	ADRA1B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000170214		0.612	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA1B	HGNC	protein_coding	OTTHUMT00000252676.1	-	0.00	30	0	G			159344142	+1	tier1	-	no_errors	ENST00000306675	ensembl	human	known	74_37	missense	21.43	11	3	SNP	1.000	T
AKR1C2	1646	genome.wustl.edu	37	10	5043707	5043707	+	Splice_Site	DEL	T	T	-			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:5043707delT	ENST00000380753.4	-	2	438	c.251delA	c.(250-252)aag>ag	p.K84fs	AKR1C2_ENST00000407674.1_Splice_Site_p.K84fs|AKR1C2_ENST00000421196.3_Splice_Site_p.K84fs|AKR1C2_ENST00000455190.1_Splice_Site_p.K84fs	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	84		Lowers pKa of active site Tyr. {ECO:0000250}.			cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway (GO:0007186)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|response to prostaglandin (GO:0034694)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin F receptor activity (GO:0004958)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					Ursodeoxycholic acid(DB01586)	GCACAGTACCTTTGAAGTGTA	0.443																																																	0													129.0	106.0	114.0					10																	5043707		2202	4281	6483	SO:0001630	splice_region_variant	0			L32592	CCDS7062.1, CCDS44350.1	10p15-p14	2014-01-29	2012-12-04		ENSG00000151632	ENSG00000151632	1.3.1.20, 1.1.1.213	"""Aldo-keto reductases"""	385	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III"""	600450	"""aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III)"", ""testicular 17,20-desmolase deficiency"""	DDH2, TDD		9716498, 21802064	Standard	NM_001354		Approved	DD, BABP, DD2, HAKRD, MCDR2	uc001iht.3	P52895	OTTHUMG00000017584	ENST00000380753.4:c.252+1A>-	10.37:g.5043707delT			A8K2N9|B4DKR9|Q14133|Q5SR16|Q7M4N1|Q96A71	Frame_Shift_Del	DEL	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.K84fs	ENST00000380753.4	37	c.251	CCDS7062.1	10																																																																																			AKR1C2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	ENSG00000151632		0.443	AKR1C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C2	HGNC	protein_coding	OTTHUMT00000046531.1		0.00	80	0	T	NM_001354	Frame_Shift_Del	5043707	-1	tier1		no_errors	ENST00000380753	ensembl	human	known	74_37	frame_shift_del	20.69	69	18	DEL	1.000	-
ANK3	288	genome.wustl.edu	37	10	61832417	61832417	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:61832417delT	ENST00000280772.2	-	37	8413	c.8222delA	c.(8221-8223)gatfs	p.D2741fs	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2741					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGACTGGCCATCTGACTTTCT	0.413																																																	0													128.0	128.0	128.0					10																	61832417		2203	4300	6503	SO:0001589	frameshift_variant	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.8222delA	10.37:g.61832417delT	ENSP00000280772:p.Asp2741fs		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.D2741fs	ENST00000280772.2	37	c.8222	CCDS7258.1	10																																																																																			ANK3	-	NULL	ENSG00000151150		0.413	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4		0.00	48	0	T	NM_020987		61832417	-1	tier1		no_errors	ENST00000280772	ensembl	human	known	74_37	frame_shift_del	40.00	15	10	DEL	0.998	-
ANKRD26P1	124149	genome.wustl.edu	37	16	46534066	46534066	+	RNA	SNP	A	A	G			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr16:46534066A>G	ENST00000571006.1	-	0	848							Q6NSI1	AR26L_HUMAN	ankyrin repeat domain 26 pseudogene 1																		TGTCGAAGTAACAGATTTTCG	0.328																																																	0																																												0			BC070117		16q11.2	2014-03-18	2009-06-12		ENSG00000261239	ENSG00000261239			32955	pseudogene	pseudogene							Standard	NR_026556		Approved	FLJ43980	uc002eeb.3	Q6NSI1	OTTHUMG00000175593		16.37:g.46534066A>G				RNA	SNP	-	NULL	ENST00000571006.1	37	NULL		16																																																																																			ANKRD26P1	-	-	ENSG00000261239		0.328	ANKRD26P1-007	KNOWN	basic	processed_transcript	ANKRD26P1	HGNC	pseudogene	OTTHUMT00000437932.1	-	0.00	42	0	A	NR_026556		46534066	-1	tier1	-	no_errors	ENST00000566201	ensembl	human	known	74_37	rna	23.53	39	12	SNP	0.913	G
AQP10	89872	genome.wustl.edu	37	1	154296217	154296217	+	Silent	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:154296217C>T	ENST00000324978.3	+	5	682	c.642C>T	c.(640-642)aaC>aaT	p.N214N	AQP10_ENST00000484864.1_Silent_p.N214N|ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000355197.4_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	214					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTCCACTCAACCCTGCCCGGG	0.637																																																	0													77.0	77.0	77.0					1																	154296217		2203	4300	6503	SO:0001819	synonymous_variant	0			AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.642C>T	1.37:g.154296217C>T			Q5VYD3|Q5VYD4|Q8NG70	Silent	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP	p.N214	ENST00000324978.3	37	c.642	CCDS1065.1	1																																																																																			AQP10	-	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	ENSG00000143595		0.637	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP10	HGNC	protein_coding	OTTHUMT00000087661.1	-	0.00	57	0	C	NM_080429		154296217	+1	tier1	-	no_errors	ENST00000324978	ensembl	human	known	74_37	silent	26.83	30	11	SNP	1.000	T
ARG1	383	genome.wustl.edu	37	6	131905028	131905028	+	Missense_Mutation	SNP	T	T	C			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr6:131905028T>C	ENST00000368087.3	+	8	1088	c.949T>C	c.(949-951)Tac>Cac	p.Y317H	MED23_ENST00000354577.4_Intron|ARG1_ENST00000356962.2_Missense_Mutation_p.Y325H|MED23_ENST00000479213.1_5'Flank			P05089	ARGI1_HUMAN	arginase 1	317					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|liver development (GO:0001889)|lung development (GO:0030324)|mammary gland involution (GO:0060056)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of endothelial cell proliferation (GO:0001938)|protein homotrimerization (GO:0070207)|regulation of L-arginine import (GO:0010963)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to herbicide (GO:0009635)|response to manganese ion (GO:0010042)|response to methylmercury (GO:0051597)|response to selenium ion (GO:0010269)|response to vitamin A (GO:0033189)|response to vitamin E (GO:0033197)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	arginase activity (GO:0004053)|manganese ion binding (GO:0030145)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	GCCTATTGACTACCTTAACCC	0.393																																																	0													123.0	107.0	112.0					6																	131905028		2203	4300	6503	SO:0001583	missense	0				CCDS5145.1, CCDS59038.1	6q23	2013-05-01	2013-05-01		ENSG00000118520	ENSG00000118520	3.5.3.1		663	protein-coding gene	gene with protein product		608313	"""arginase, liver"""			22959135	Standard	NM_000045		Approved		uc003qcp.2	P05089	OTTHUMG00000015566	ENST00000368087.3:c.949T>C	6.37:g.131905028T>C	ENSP00000357066:p.Tyr317His		A6NEA0|Q5JWT5|Q5JWT6|Q8TE72|Q9BS50	Missense_Mutation	SNP	pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase	p.Y325H	ENST00000368087.3	37	c.973	CCDS5145.1	6	.	.	.	.	.	.	.	.	.	.	T	16.41	3.114800	0.56505	.	.	ENSG00000118520	ENST00000368087;ENST00000356962;ENST00000476845	D;D;D	0.92397	-2.04;-3.03;-2.33	5.71	5.71	0.89125	.	0.681002	0.14784	N	0.298632	T	0.81375	0.4809	L	0.33485	1.01	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.74685	-0.3582	10	0.23302	T	0.38	-16.4656	13.8024	0.63208	0.0:0.0:0.0:1.0	.	325;317	P05089-2;P05089	.;ARGI1_HUMAN	H	317;325;231	ENSP00000357066:Y317H;ENSP00000349446:Y325H;ENSP00000417694:Y231H	ENSP00000349446:Y325H	Y	+	1	0	ARG1	131946721	0.226000	0.23696	0.988000	0.46212	0.974000	0.67602	0.707000	0.25704	2.307000	0.77673	0.528000	0.53228	TAC	ARG1	-	NULL	ENSG00000118520		0.393	ARG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARG1	HGNC	protein_coding	OTTHUMT00000042223.1		0.00	19	0	T			131905028	+1			no_errors	ENST00000356962	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.996	C
ARHGEF7	8874	genome.wustl.edu	37	13	111935538	111935538	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr13:111935538C>T	ENST00000375741.2	+	17	2091	c.1841C>T	c.(1840-1842)gCg>gTg	p.A614V	ARHGEF7_ENST00000375723.1_Missense_Mutation_p.A436V|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.A511V|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.A436V|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.A436V|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.A358V|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.A436V|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.A564V|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.A521V|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.A593V	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	614					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AGCAAGCCCGCGCCGCTGACG	0.687																																																	0													36.0	34.0	35.0					13																	111935538		2186	4287	6473	SO:0001583	missense	0			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1841C>T	13.37:g.111935538C>T	ENSP00000364893:p.Ala614Val		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain	p.A614V	ENST00000375741.2	37	c.1841	CCDS45068.1	13	.	.	.	.	.	.	.	.	.	.	C	0.997	-0.692034	0.03303	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T;T	0.61274	0.69;0.69;0.69;0.66;0.7;0.64;0.66;0.66;0.71;0.64;0.12	4.43	0.593	0.17478	.	0.486626	0.23074	N	0.052223	T	0.24122	0.0584	N	0.02011	-0.69	0.80722	D	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.03898	-1.0994	10	0.15952	T	0.53	.	7.7635	0.28965	0.0:0.2755:0.0:0.7245	.	358;511;436;564;614;593	E9PDQ5;B7Z6G2;Q14155-6;Q14155-2;Q14155;Q14155-3	.;.;.;.;ARHG7_HUMAN;.	V	593;614;564;521;591;436;436;436;436;511;436;358	ENSP00000325994:A593V;ENSP00000364893:A614V;ENSP00000364891:A564V;ENSP00000359657:A521V;ENSP00000418067:A436V;ENSP00000218789:A436V;ENSP00000364888:A436V;ENSP00000397068:A436V;ENSP00000364889:A511V;ENSP00000364875:A436V;ENSP00000417596:A358V	ENSP00000218789:A436V	A	+	2	0	ARHGEF7	110733539	0.959000	0.32827	0.002000	0.10522	0.929000	0.56500	1.192000	0.32150	-0.064000	0.13043	0.561000	0.74099	GCG	ARHGEF7	-	NULL	ENSG00000102606		0.687	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	ARHGEF7	HGNC	protein_coding		-	0.00	79	0	C	NM_001113511		111935538	+1	tier1	-	no_errors	ENST00000375741	ensembl	human	known	74_37	missense	36.59	26	15	SNP	0.871	T
ATP1B1	481	genome.wustl.edu	37	1	169094267	169094267	+	Silent	SNP	A	A	G			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:169094267A>G	ENST00000367816.1	+	4	901	c.372A>G	c.(370-372)gaA>gaG	p.E124E	ATP1B1_ENST00000367815.4_Silent_p.E124E|ATP1B1_ENST00000499679.3_Silent_p.E68E|ATP1B1_ENST00000367813.3_Silent_p.E116E			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	124					blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					TGATTTTTGAAGATTGTGGCG	0.383																																																	0													166.0	162.0	163.0					1																	169094267		2203	4300	6503	SO:0001819	synonymous_variant	0			U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"""ATPases / P-type"""	804	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-1"", ""sodium pump subunit beta-1"", ""sodium-potassium ATPase subunit beta 1 (non-catalytic)"""	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.372A>G	1.37:g.169094267A>G			Q5TGZ3	Silent	SNP	pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta	p.E124	ENST00000367816.1	37	c.372	CCDS1276.1	1																																																																																			ATP1B1	-	pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta	ENSG00000143153		0.383	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP1B1	HGNC	protein_coding	OTTHUMT00000083696.1	-	0.00	53	0	A			169094267	+1	tier1	-	no_errors	ENST00000367815	ensembl	human	known	74_37	silent	8.89	41	4	SNP	1.000	G
ATP8B5P	158381	genome.wustl.edu	37	9	35450410	35450411	+	RNA	INS	-	-	T	rs547771520	byFrequency	TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr9:35450410_35450411insT	ENST00000430846.1	+	0	3260_3261									ATPase, class I, type 8B, member 5, pseudogene																		TTGACTTGAGGTTTTTTTTTCC	0.342													?|TTTTTTTTT|TTTTTTTTTT|unsure	30	0.00599042	0.0015	0.0014	5008	,	,		17840	0.001		0.001	False		,,,				2504	0.0256																0																																												0					9p13.3	2010-09-22			ENSG00000179766	ENSG00000179766		"""ATPases / P-type"""	27245	pseudogene	pseudogene	"""flippase expressed in testis splicing form A pseudogene"""					20210903, 19657017	Standard	NR_003582		Approved	FetA	uc010mkn.2		OTTHUMG00000019862		9.37:g.35450419_35450419dupT				RNA	INS	-	NULL	ENST00000430846.1	37	NULL		9																																																																																			ATP8B5P	-	-	ENSG00000179766		0.342	ATP8B5P-002	KNOWN	basic	processed_transcript	ATP8B5P	HGNC	pseudogene	OTTHUMT00000052312.1		0.00	74	0	0	NR_003581.1		35450411	+1			no_errors	ENST00000430846	ensembl	human	known	74_37	rna	7.62	97	8	INS	0.876:0.812	T
ATXN1	6310	genome.wustl.edu	37	6	16761716	16761718	+	5'UTR	DEL	CTC	CTC	-	rs371878187|rs540329861|rs550748290	byFrequency	TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr6:16761716_16761718delCTC	ENST00000436367.1	-	0	3_5				ATXN1_ENST00000244769.4_5'Flank|RP1-151F17.1_ENST00000450930.1_RNA|RP1-151F17.1_ENST00000423260.1_RNA|ATXN1_ENST00000467008.1_5'Flank|RP1-151F17.2_ENST00000606924.1_lincRNA	NM_001128164.1	NP_001121636.1	P54253	ATX1_HUMAN	ataxin 1						adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ACTCTGCTCTctcctcctcctcc	0.66																																																	0																																										SO:0001623	5_prime_UTR_variant	0			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000436367.1:c.-919GAG>-	6.37:g.16761725_16761727delCTC			Q17S02|Q9UJG2|Q9Y4J1	RNA	DEL	-	NULL	ENST00000436367.1	37	NULL	CCDS34342.1	6																																																																																			ATXN1	-	-	ENSG00000124788		0.660	ATXN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN1	HGNC	protein_coding			0.00	67	0	CTC	NM_000332		16761718	-1	tier1		no_errors	ENST00000498374	ensembl	human	known	74_37	rna	12.50	21	3	DEL	1.000:1.000:1.000	-
BACE2	25825	genome.wustl.edu	37	21	42629162	42629162	+	Silent	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr21:42629162G>A	ENST00000330333.6	+	8	1675	c.1212G>A	c.(1210-1212)gcG>gcA	p.A404A	BACE2_ENST00000347667.5_Silent_p.A354A|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Intron	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	404					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CCACAAATGCGCTGGTGATCG	0.567																																																	0													88.0	77.0	81.0					21																	42629162		2203	4300	6503	SO:0001819	synonymous_variant	0			AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.1212G>A	21.37:g.42629162G>A			A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Silent	SNP	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE2,prints_Aspartic_peptidase,prints_Pept_A1_BACE1	p.A404	ENST00000330333.6	37	c.1212	CCDS13668.1	21																																																																																			BACE2	-	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom	ENSG00000182240		0.567	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BACE2	HGNC	protein_coding	OTTHUMT00000195056.1	-	0.00	36	0	G			42629162	+1	tier1	-	no_errors	ENST00000330333	ensembl	human	known	74_37	silent	46.43	15	13	SNP	0.769	A
BAI1	575	genome.wustl.edu	37	8	143623435	143623435	+	Silent	SNP	G	G	C	rs575943898	byFrequency	TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr8:143623435G>C	ENST00000517894.1	+	28	4734	c.3840G>C	c.(3838-3840)ccG>ccC	p.P1280P	BAI1_ENST00000323289.5_Silent_p.P1280P			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1280					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P1280P(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACAGCCTGCCGGCCAACGTGT	0.662																																																	1	Substitution - coding silent(1)	lung(1)											23.0	28.0	26.0					8																	143623435		2108	4210	6318	SO:0001819	synonymous_variant	0			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3840G>C	8.37:g.143623435G>C				Silent	SNP	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.P1280	ENST00000517894.1	37	c.3840		8																																																																																			BAI1	-	NULL	ENSG00000181790		0.662	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3		0.00	41	0	G	NM_001702		143623435	+1			no_errors	ENST00000323289	ensembl	human	known	74_37	silent	6.52	43	3	SNP	0.231	C
BRINP1	1620	genome.wustl.edu	37	9	121930252	121930252	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr9:121930252C>T	ENST00000265922.3	-	8	1857	c.1396G>A	c.(1396-1398)Gtg>Atg	p.V466M	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	466					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											TCCGAGTCCACGTTCTGTGGT	0.582																																																	0													129.0	109.0	115.0					9																	121930252		2203	4300	6503	SO:0001583	missense	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1396G>A	9.37:g.121930252C>T	ENSP00000265922:p.Val466Met		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.V466M	ENST00000265922.3	37	c.1396	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737310	0.69304	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.55930	0.49	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.62636	0.2444	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	P	0.59595	0.86	T	0.65245	-0.6215	10	0.87932	D	0	-19.9864	19.5083	0.95130	0.0:1.0:0.0:0.0	.	466	O60477	DBC1_HUMAN	M	466	ENSP00000265922:V466M	ENSP00000265922:V466M	V	-	1	0	DBC1	120970073	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.743000	0.85020	2.600000	0.87896	0.655000	0.94253	GTG	BRINP1	-	NULL	ENSG00000078725		0.582	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	HGNC	protein_coding	OTTHUMT00000055440.2		0.00	27	0	C	NM_014618		121930252	-1			no_errors	ENST00000265922	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	T
BTD	686	genome.wustl.edu	37	3	15676984	15676984	+	Frame_Shift_Del	DEL	G	G	-	rs141131444|rs80338684		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:15676984delG	ENST00000303498.5	+	2	207	c.98delG	c.(97-99)tgcfs	p.C33fs	BTD_ENST00000437172.1_Frame_Shift_Del_p.C35fs|BTD_ENST00000383778.4_Frame_Shift_Del_p.C13fs|BTD_ENST00000482824.1_3'UTR|BTD_ENST00000449107.1_Frame_Shift_Del_p.C35fs	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	33					biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						CTTTTCCTCTGCGGCTGTTAC	0.522																																																	0			GRCh37	CX952003	BTD	X	rs80338684						172.0	165.0	168.0					3																	15676984		2203	4300	6503	SO:0001589	frameshift_variant	0			AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.98delG	3.37:g.15676984delG	ENSP00000306477:p.Cys33fs		A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Frame_Shift_Del	DEL	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	p.C33fs	ENST00000303498.5	37	c.98	CCDS2628.1	3																																																																																			BTD	-	pirsf_Biotinidase_euk	ENSG00000169814		0.522	BTD-001	KNOWN	basic|CCDS	protein_coding	BTD	HGNC	protein_coding	OTTHUMT00000252103.2		0.00	46	0	G	NM_000060		15676984	+1	tier1		no_errors	ENST00000303498	ensembl	human	known	74_37	frame_shift_del	12.50	14	2	DEL	0.023	-
CCDC7	79741	genome.wustl.edu	37	10	33103339	33103339	+	Missense_Mutation	SNP	A	A	G	rs530294108		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:33103339A>G	ENST00000375028.3	+	10	950	c.880A>G	c.(880-882)Ata>Gta	p.I294V	C10orf68_ENST00000375025.4_Missense_Mutation_p.I354V|C10orf68_ENST00000375030.2_Intron			Q9H943	CJ068_HUMAN		318										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TGGAAGAGATATACTAAAGGA	0.333																																																	0													163.0	180.0	174.0					10																	33103339		2203	4300	6503	SO:0001583	missense	0																														ENST00000375028.3:c.880A>G	10.37:g.33103339A>G	ENSP00000364168:p.Ile294Val		B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	NULL	p.I354V	ENST00000375028.3	37	c.1060		10	.	.	.	.	.	.	.	.	.	.	.	8.843	0.942752	0.18281	.	.	ENSG00000150076	ENST00000302316;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T	0.27104	1.71;1.7;1.69	2.56	-1.6	0.08426	.	.	.	.	.	T	0.14442	0.0349	L	0.50333	1.59	0.09310	N	1	B;B;B	0.24576	0.106;0.106;0.106	B;B;B	0.20184	0.028;0.028;0.028	T	0.38607	-0.9653	9	0.02654	T	1	.	2.3057	0.04173	0.4963:0.0:0.282:0.2217	.	271;318;294	B4DX58;Q9H943;A2A3B4	.;CJ068_HUMAN;.	V	318;294;354;266	ENSP00000303710:I318V;ENSP00000364168:I294V;ENSP00000364165:I354V	ENSP00000303710:I318V	I	+	1	0	C10orf68	33143345	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.538000	0.02204	-0.362000	0.08113	0.459000	0.35465	ATA	C10orf68	-	NULL	ENSG00000150076		0.333	C10orf68-002	PUTATIVE	basic|appris_candidate	protein_coding	C10orf68	HGNC	protein_coding	OTTHUMT00000314000.2	-	0.00	32	0	A			33103339	+1	tier1	-	no_errors	ENST00000375025	ensembl	human	known	74_37	missense	48.84	22	21	SNP	0.000	G
C6orf89	221477	genome.wustl.edu	37	6	36884310	36884310	+	Missense_Mutation	SNP	A	A	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr6:36884310A>T	ENST00000480824.2	+	7	1079	c.785A>T	c.(784-786)aAg>aTg	p.K262M	C6orf89_ENST00000359359.2_Missense_Mutation_p.K156M|C6orf89_ENST00000355190.3_Missense_Mutation_p.K269M|C6orf89_ENST00000373685.1_Missense_Mutation_p.K262M|C6orf89_ENST00000510325.2_Missense_Mutation_p.K156M			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	262					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.K269M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						TCTTTAAACAAGTGCTCCTTT	0.423																																																	1	Substitution - Missense(1)	breast(1)											106.0	100.0	102.0					6																	36884310		2203	4300	6503	SO:0001583	missense	0			AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.785A>T	6.37:g.36884310A>T	ENSP00000475947:p.Lys262Met		B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	NULL	p.K269M	ENST00000480824.2	37	c.806		6	.	.	.	.	.	.	.	.	.	.	A	22.9	4.349638	0.82132	.	.	ENSG00000198663	ENST00000359359;ENST00000510325;ENST00000355190;ENST00000373685	.	.	.	6.17	3.68	0.42216	.	0.277274	0.41823	D	0.000806	T	0.47948	0.1473	L	0.57536	1.79	0.34955	D	0.751571	D;D	0.67145	0.996;0.996	P;P	0.59288	0.855;0.855	T	0.57596	-0.7784	9	0.72032	D	0.01	12.3107	4.7943	0.13265	0.71:0.1936:0.0964:0.0	.	262;269	Q6UWU4;Q6UWU4-2	CF089_HUMAN;.	M	156;156;269;262	.	ENSP00000347322:K269M	K	+	2	0	C6orf89	36992288	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.238000	0.32707	2.371000	0.80710	0.533000	0.62120	AAG	C6orf89	-	NULL	ENSG00000198663		0.423	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	C6orf89	HGNC	protein_coding	OTTHUMT00000040387.2		0.00	66	0	A	NM_152734		36884310	+1			no_errors	ENST00000355190	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T
C9orf84	158401	genome.wustl.edu	37	9	114490231	114490231	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr9:114490231C>T	ENST00000318737.4	-	11	1452	c.1324G>A	c.(1324-1326)Gca>Aca	p.A442T	C9orf84_ENST00000394779.3_Missense_Mutation_p.A403T|C9orf84_ENST00000374287.3_Missense_Mutation_p.A442T|C9orf84_ENST00000394777.4_Missense_Mutation_p.A403T	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	442								p.A403P(1)|p.A442P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ACTTCTTTTGCCAGAGATGGA	0.348																																																	2	Substitution - Missense(2)	lung(2)											79.0	79.0	79.0					9																	114490231		2202	4297	6499	SO:0001583	missense	0			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.1324G>A	9.37:g.114490231C>T	ENSP00000322108:p.Ala442Thr		A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	superfamily_RuvA_2-like	p.A442T	ENST00000318737.4	37	c.1324	CCDS6781.3	9	.	.	.	.	.	.	.	.	.	.	C	3.915	-0.019383	0.07634	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.04917	3.53;3.53;3.54;3.54	4.5	-1.74	0.08056	.	0.939500	0.08906	N	0.876504	T	0.02848	0.0085	N	0.12182	0.205	0.09310	N	1	B;B;B	0.16396	0.017;0.017;0.017	B;B;B	0.14578	0.011;0.007;0.007	T	0.46373	-0.9196	10	0.28530	T	0.3	0.2741	1.02	0.01516	0.1519:0.3489:0.1479:0.3512	.	403;442;403	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	T	403;403;56;442;442	ENSP00000378259:A403T;ENSP00000378257:A403T;ENSP00000363405:A442T;ENSP00000322108:A442T	ENSP00000322108:A442T	A	-	1	0	C9orf84	113530052	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	0.066000	0.14489	-0.323000	0.08602	-0.225000	0.12378	GCA	C9orf84	-	NULL	ENSG00000165181		0.348	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	HGNC	protein_coding	OTTHUMT00000053656.2		0.00	23	0	C	NM_173521		114490231	-1			no_errors	ENST00000318737	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.002	T
CARD18	59082	genome.wustl.edu	37	11	105009563	105009563	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr11:105009563C>T	ENST00000530950.1	-	2	249	c.250G>A	c.(250-252)Gcc>Acc	p.A84T	CARD18_ENST00000532895.1_Missense_Mutation_p.A45T|CARD18_ENST00000526823.1_Missense_Mutation_p.A45T	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN	caspase recruitment domain family, member 18	84	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				inflammatory response (GO:0006954)|regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.A84T(1)		central_nervous_system(1)|ovary(1)	2						ATCTTTGAGGCAAGTTGAGGG	0.413																																																	1	Substitution - Missense(1)	central_nervous_system(1)											240.0	222.0	228.0					11																	105009563		1904	4118	6022	SO:0001583	missense	0			AY358231	CCDS53705.1	11q22.3	2008-09-02				ENSG00000255501			28861	protein-coding gene	gene with protein product		605354				11051551	Standard	NM_021571		Approved	UNQ5804, ICEBERG, pseudo-ICE	uc021qpy.1	P57730		ENST00000530950.1:c.250G>A	11.37:g.105009563C>T	ENSP00000436691:p.Ala84Thr		A2RRF8	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.A84T	ENST00000530950.1	37	c.250	CCDS53705.1	11	.	.	.	.	.	.	.	.	.	.	.	14.95	2.689803	0.48097	.	.	ENSG00000255501	ENST00000530950;ENST00000526823;ENST00000532895	T;T;T	0.26373	1.74;1.74;1.74	2.58	2.58	0.30949	DEATH-like (2);Caspase Recruitment (3);	0.353118	0.30428	N	0.009641	T	0.44074	0.1276	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.08086	-1.0739	9	0.87932	D	0	.	8.795	0.34874	0.0:1.0:0.0:0.0	.	84	P57730	CAR18_HUMAN	T	84;45;45	ENSP00000436691:A84T;ENSP00000437035:A45T;ENSP00000437187:A45T	ENSP00000437035:A45T	A	-	1	0	CARD18	104514773	0.000000	0.05858	0.006000	0.13384	0.014000	0.08584	0.607000	0.24209	1.748000	0.51833	0.558000	0.71614	GCC	CARD18	-	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	ENSG00000255501		0.413	CARD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD18	HGNC	protein_coding	OTTHUMT00000388183.2		0.00	50	0	C	NM_021571		105009563	-1			no_errors	ENST00000530950	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.006	T
CCDC18	343099	genome.wustl.edu	37	1	93652031	93652031	+	Missense_Mutation	SNP	C	C	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:93652031C>A	ENST00000343253.7	+	4	935	c.433C>A	c.(433-435)Cac>Aac	p.H145N	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.H145N|CCDC18_ENST00000557479.1_Missense_Mutation_p.H263N|CCDC18_ENST00000338949.4_5'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	145										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TGAATCTATTCACTTTGAATT	0.289																																																	0													57.0	55.0	56.0					1																	93652031		1818	4076	5894	SO:0001583	missense	0					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.433C>A	1.37:g.93652031C>A	ENSP00000343377:p.His145Asn		Q6ZU17	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.H263N	ENST00000343253.7	37	c.787		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.43|10.43	1.347199|1.347199	0.24426|0.24426	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000370276|ENST00000343253;ENST00000401026;ENST00000557479	.|.	.|.	.|.	5.86|5.86	4.92|4.92	0.64577|0.64577	.|.	.|0.273074	.|0.35525	.|N	.|0.003157	T|T	0.22551|0.22551	0.0544|0.0544	N|N	0.17474|0.17474	0.49|0.49	0.80722|0.80722	D|D	1|1	.|B	.|0.18013	.|0.025	.|B	.|0.18561	.|0.022	T|T	0.06972|0.06972	-1.0797|-1.0797	5|9	.|0.12103	.|T	.|0.63	.|.	13.0251|13.0251	0.58810|0.58810	0.2838:0.7162:0.0:0.0|0.2838:0.7162:0.0:0.0	.|.	.|263	.|G3V388	.|.	L|N	198|145;145;263	.|.	.|ENSP00000343377:H145N	F|H	+|+	3|1	2|0	CCDC18|CCDC18	93424619|93424619	0.958000|0.958000	0.32768|0.32768	0.999000|0.999000	0.59377|0.59377	0.986000|0.986000	0.74619|0.74619	2.160000|2.160000	0.42348|0.42348	2.792000|2.792000	0.96026|0.96026	0.644000|0.644000	0.83932|0.83932	TTC|CAC	CCDC18	-	NULL	ENSG00000122483		0.289	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	CCDC18	HGNC	protein_coding	OTTHUMT00000382327.1	-	0.00	32	0	C	NM_206886		93652031	+1	tier1	-	no_errors	ENST00000557479	ensembl	human	known	74_37	missense	52.17	11	12	SNP	0.947	A
CCDC39	339829	genome.wustl.edu	37	3	180397475	180397475	+	5'Flank	SNP	G	G	C			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:180397475G>C	ENST00000442201.2	-	0	0				CCDC39_ENST00000273654.4_Missense_Mutation_p.F57L|CCDC39-AS1_ENST00000495357.1_RNA	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39						axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AACTTTCCACGAAAAGGCGGC	0.612																																																	0																																										SO:0001631	upstream_gene_variant	0			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857		3.37:g.180397475G>C	Exception_encountered		B4E2H1	Missense_Mutation	SNP	superfamily_tRNA-bd_arm	p.F57L	ENST00000442201.2	37	c.171	CCDS46964.1	3	.	.	.	.	.	.	.	.	.	.	G	6.151	0.396110	0.11638	.	.	ENSG00000145075	ENST00000273654	.	.	.	2.64	-3.0	0.05480	.	.	.	.	.	T	0.08846	0.0219	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31641	-0.9936	5	0.05436	T	0.98	.	4.1822	0.10381	0.0:0.3014:0.3472:0.3514	.	.	.	.	L	57	.	ENSP00000273654:F57L	F	-	3	2	CCDC39	181880169	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.981000	0.03766	-0.848000	0.04163	-0.688000	0.03733	TTC	CCDC39	-	NULL	ENSG00000145075		0.612	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC39	HGNC	protein_coding	OTTHUMT00000349783.3	-	0.00	67	0	G	XM_291028		180397475	-1	tier1	-	no_errors	ENST00000273654	ensembl	human	known	74_37	missense	12.50	154	22	SNP	0.000	C
CCDC81	60494	genome.wustl.edu	37	11	86108774	86108774	+	Silent	SNP	A	A	G			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr11:86108774A>G	ENST00000445632.2	+	6	1019	c.747A>G	c.(745-747)gaA>gaG	p.E249E	CCDC81_ENST00000528728.1_Silent_p.E32E|CCDC81_ENST00000354755.1_Silent_p.E159E|CCDC81_ENST00000278487.3_Silent_p.E32E	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	249										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				ACAAAGAAGAAGGCACCAGAG	0.423																																																	0													103.0	99.0	100.0					11																	86108774		2202	4299	6501	SO:0001819	synonymous_variant	0			AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.747A>G	11.37:g.86108774A>G			A0AVL7|Q53FW3|Q9H5E5	Silent	SNP	superfamily_IHF-like_DNA-bd_dom	p.E249	ENST00000445632.2	37	c.747	CCDS53691.1	11																																																																																			CCDC81	-	NULL	ENSG00000149201		0.423	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC81	HGNC	protein_coding	OTTHUMT00000393756.1	-	0.00	42	0	A	NM_021827		86108774	+1	tier1	-	no_errors	ENST00000445632	ensembl	human	known	74_37	silent	16.67	20	4	SNP	0.327	G
CD1A	909	genome.wustl.edu	37	1	158225836	158225836	+	Missense_Mutation	SNP	C	C	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:158225836C>A	ENST00000289429.5	+	3	901	c.368C>A	c.(367-369)tCt>tAt	p.S123Y		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	123					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GAGCTGCACTCTGGAAAGGTC	0.423																																																	0													84.0	80.0	81.0					1																	158225836		2203	4300	6503	SO:0001583	missense	0			M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.368C>A	1.37:g.158225836C>A	ENSP00000289429:p.Ser123Tyr		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.S123Y	ENST00000289429.5	37	c.368	CCDS1174.1	1	.	.	.	.	.	.	.	.	.	.	C	3.257	-0.152062	0.06585	.	.	ENSG00000158477	ENST00000289429	T	0.07688	3.17	4.35	2.09	0.27110	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.857580	0.02873	N	0.131895	T	0.10723	0.0262	M	0.79805	2.47	0.09310	N	1	P	0.49253	0.921	P	0.55345	0.774	T	0.11227	-1.0596	10	0.29301	T	0.29	6.0E-4	6.2727	0.20963	0.0:0.7152:0.0:0.2848	.	123	P06126	CD1A_HUMAN	Y	123	ENSP00000289429:S123Y	ENSP00000289429:S123Y	S	+	2	0	CD1A	156492460	0.000000	0.05858	0.206000	0.23566	0.008000	0.06430	0.012000	0.13287	0.794000	0.33899	0.579000	0.79373	TCT	CD1A	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000158477		0.423	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1A	HGNC	protein_coding	OTTHUMT00000046349.2		0.00	48	0	C	NM_001763		158225836	+1			no_errors	ENST00000289429	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.007	A
CD27	939	genome.wustl.edu	37	12	6554270	6554270	+	Silent	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr12:6554270G>A	ENST00000266557.3	+	1	238	c.9G>A	c.(7-9)cgG>cgA	p.R3R	CD27-AS1_ENST00000545339.1_RNA|CD27-AS1_ENST00000399492.2_RNA	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	3					cell surface receptor signaling pathway (GO:0007166)|extrinsic apoptotic signaling pathway (GO:0097191)|immunoglobulin mediated immune response (GO:0016064)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of JNK cascade (GO:0046330)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|response to ethanol (GO:0045471)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						CCATGGCACGGCCACATCCCT	0.637																																																	0													17.0	22.0	20.0					12																	6554270		2202	4299	6501	SO:0001819	synonymous_variant	0			M63928	CCDS8545.1	12p13	2014-09-17	2006-10-27	2006-10-27	ENSG00000139193	ENSG00000139193		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11922	protein-coding gene	gene with protein product		186711	"""tumor necrosis factor receptor superfamily, member 7"""	TNFRSF7		2442250, 8530100	Standard	NM_001242		Approved	S152, Tp55	uc001qod.3	P26842	OTTHUMG00000168316	ENST00000266557.3:c.9G>A	12.37:g.6554270G>A			B2RDZ0	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_7,prints_Fas_rcpt	p.R3	ENST00000266557.3	37	c.9	CCDS8545.1	12																																																																																			CD27	-	prints_TNFR_7	ENSG00000139193		0.637	CD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD27	HGNC	protein_coding	OTTHUMT00000399258.1	-	0.00	58	0	G			6554270	+1	tier1	-	no_errors	ENST00000266557	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.013	A
CDC20	991	genome.wustl.edu	37	1	43827963	43827963	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:43827963C>T	ENST00000372462.1	+	9	1504	c.1301C>T	c.(1300-1302)gCc>gTc	p.A434V	ELOVL1_ENST00000470769.1_5'Flank|CDC20_ENST00000310955.6_Missense_Mutation_p.A434V			Q12834	CDC20_HUMAN	cell division cycle 20	434					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)	p.A434D(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ccaaccatggccaaggtggct	0.478																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)												1	Substitution - Missense(1)	ovary(1)											64.0	56.0	59.0					1																	43827963		2203	4300	6503	SO:0001583	missense	0			U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"""WD repeat domain containing"""	1723	protein-coding gene	gene with protein product		603618	"""CDC20 (cell division cycle 20, S. cerevisiae, homolog)"", ""CDC20 cell division cycle 20 homolog (S. cerevisiae)"", ""cell division cycle 20 homolog (S. cerevisiae)"""			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.1301C>T	1.37:g.43827963C>T	ENSP00000361540:p.Ala434Val		B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A434V	ENST00000372462.1	37	c.1301	CCDS484.1	1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541663	0.27563	.	.	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	T;T	0.28895	1.59;1.59	5.84	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.541973	0.22840	N	0.054986	T	0.17238	0.0414	N	0.16098	0.37	0.47584	D	0.999469	B	0.09022	0.002	B	0.14578	0.011	T	0.06110	-1.0845	10	0.02654	T	1	-4.2979	14.9456	0.71029	0.0:0.9316:0.0:0.0684	.	434	Q12834	CDC20_HUMAN	V	410;434;434	ENSP00000308450:A434V;ENSP00000361540:A434V	ENSP00000308450:A434V	A	+	2	0	CDC20	43600550	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.144000	0.50616	1.478000	0.48253	0.561000	0.74099	GCC	CDC20	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000117399		0.478	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDC20	HGNC	protein_coding	OTTHUMT00000019488.1		0.00	26	0	C	NM_001255		43827963	+1			no_errors	ENST00000310955	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T
CDCA7L	55536	genome.wustl.edu	37	7	21945956	21945956	+	Frame_Shift_Del	DEL	G	G	-			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr7:21945956delG	ENST00000406877.3	-	6	1151	c.872delC	c.(871-873)gctfs	p.A291fs	CDCA7L_ENST00000373934.4_Frame_Shift_Del_p.A245fs|CDCA7L_ENST00000356195.5_Frame_Shift_Del_p.A257fs|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	291					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CGCAAATTTAGCGGCTGAGAC	0.498																																																	0													80.0	89.0	86.0					7																	21945956		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.872delC	7.37:g.21945956delG	ENSP00000383986:p.Ala291fs		A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Frame_Shift_Del	DEL	pfam_Znf-4CXXC_R1	p.A291fs	ENST00000406877.3	37	c.872	CCDS5374.1	7																																																																																			CDCA7L	-	NULL	ENSG00000164649		0.498	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA7L	HGNC	protein_coding	OTTHUMT00000250218.4		0.00	59	0	G	NM_018719		21945956	-1	tier1		no_errors	ENST00000406877	ensembl	human	known	74_37	frame_shift_del	28.30	38	15	DEL	0.132	-
CDH9	1007	genome.wustl.edu	37	5	26906170	26906170	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr5:26906170G>A	ENST00000231021.4	-	5	881	c.709C>T	c.(709-711)Cag>Tag	p.Q237*		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	237	Cadherin 2. {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)	p.Q237K(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCTTTGGCCTGTATAACAACC	0.443																																					Melanoma(8;187 585 15745 40864 52829)												1	Substitution - Missense(1)	lung(1)											242.0	215.0	224.0					5																	26906170		2203	4300	6503	SO:0001587	stop_gained	0			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.709C>T	5.37:g.26906170G>A	ENSP00000231021:p.Gln237*		Q3B7I5	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q237*	ENST00000231021.4	37	c.709	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	G	37	6.454144	0.97581	.	.	ENSG00000113100	ENST00000231021	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5289	0.90984	0.0:0.0:1.0:0.0	.	.	.	.	X	237	.	.	Q	-	1	0	CDH9	26941927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.798000	0.85924	2.802000	0.96397	0.650000	0.86243	CAG	CDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000113100		0.443	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	-	0.00	60	0	G	NM_016279		26906170	-1	tier1	-	no_errors	ENST00000231021	ensembl	human	known	74_37	nonsense	7.46	60	5	SNP	1.000	A
CENPE	1062	genome.wustl.edu	37	4	104082532	104082532	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr4:104082532G>A	ENST00000265148.3	-	19	2014	c.1925C>T	c.(1924-1926)gCc>gTc	p.A642V	CENPE_ENST00000380026.3_Missense_Mutation_p.A617V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	642					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCTAAGAAAGGCTGATTCTCT	0.353																																																	0													100.0	104.0	102.0					4																	104082532		2203	4300	6503	SO:0001583	missense	0			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1925C>T	4.37:g.104082532G>A	ENSP00000265148:p.Ala642Val		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A642V	ENST00000265148.3	37	c.1925	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214015	0.79352	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.73681	0.58;-0.77;0.58	5.32	5.32	0.75619	.	.	.	.	.	D	0.85613	0.5737	M	0.68952	2.095	0.49915	D	0.999835	D;D	0.89917	0.999;1.0	D;D	0.83275	0.933;0.996	D	0.86139	0.1580	9	0.56958	D	0.05	.	19.0147	0.92889	0.0:0.0:1.0:0.0	.	617;642	Q02224-3;Q02224	.;CENPE_HUMAN	V	642;642;617;642	ENSP00000265148:A642V;ENSP00000369365:A617V;ENSP00000423981:A642V	ENSP00000265148:A642V	A	-	2	0	CENPE	104301981	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.352000	0.66028	2.493000	0.84123	0.585000	0.79938	GCC	CENPE	-	NULL	ENSG00000138778		0.353	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		-	0.00	50	0	G			104082532	-1	tier1	-	no_errors	ENST00000265148	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A
CLCA3P	9629	genome.wustl.edu	37	1	87109714	87109714	+	RNA	SNP	T	T	C			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:87109714T>C	ENST00000456587.1	-	0	294				CLCA3P_ENST00000466454.1_RNA																							ACTGCAAACCTGCCTCAAGAA	0.348																																																	0																																												0																															1.37:g.87109714T>C				RNA	SNP	-	NULL	ENST00000456587.1	37	NULL		1																																																																																			CLCA3P	-	-	ENSG00000153923		0.348	RP4-651E10.4-001	KNOWN	non_canonical_TEC|basic	antisense	CLCA3P	HGNC	antisense	OTTHUMT00000028263.1	-	0.00	70	0	T			87109714	+1	tier1	-	no_errors	ENST00000284054	ensembl	human	known	74_37	rna	8.51	43	4	SNP	0.968	C
CLK1	1195	genome.wustl.edu	37	2	201718664	201718664	+	Missense_Mutation	SNP	C	C	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:201718664C>A	ENST00000321356.4	-	12	1408	c.1273G>T	c.(1273-1275)Gcc>Tcc	p.A425S	CLK1_ENST00000434813.2_Missense_Mutation_p.A467S|CLK1_ENST00000409769.2_Missense_Mutation_p.A248S	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	425	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TATCTGCCGGCAGAACTGTGT	0.358																																																	0													123.0	118.0	119.0					2																	201718664		2203	4300	6503	SO:0001583	missense	0			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.1273G>T	2.37:g.201718664C>A	ENSP00000326830:p.Ala425Ser		B4DFW7|Q0P694|Q8N5V8	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.A425S	ENST00000321356.4	37	c.1273	CCDS2331.1	2	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587152	0.28268	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.19394	2.15;2.15;2.15	5.25	5.25	0.73442	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054531	0.85682	D	0.000000	T	0.12390	0.0301	N	0.03029	-0.43	0.52099	D	0.999946	B;B;B;B	0.18741	0.004;0.004;0.004;0.03	B;B;B;B	0.26969	0.075;0.075;0.075;0.069	T	0.21381	-1.0247	10	0.31617	T	0.26	.	19.1948	0.93682	0.0:1.0:0.0:0.0	.	467;395;425;248	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	S	425;395;248;467	ENSP00000326830:A425S;ENSP00000386358:A248S;ENSP00000394734:A467S	ENSP00000326830:A425S	A	-	1	0	CLK1	201426909	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	2.458000	0.45014	2.619000	0.88677	0.462000	0.41574	GCC	CLK1	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000013441		0.358	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK1	HGNC	protein_coding	OTTHUMT00000256192.2	-	0.00	43	0	C			201718664	-1	tier1	-	no_errors	ENST00000321356	ensembl	human	known	74_37	missense	27.91	31	12	SNP	1.000	A
CLSTN2	64084	genome.wustl.edu	37	3	140185549	140185549	+	Silent	SNP	G	G	T	rs375235313		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:140185549G>T	ENST00000458420.3	+	8	1510	c.1320G>T	c.(1318-1320)gcG>gcT	p.A440A		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	440					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TTCGCCCCGCGGAGTTCCACT	0.577										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)												0													63.0	55.0	58.0					3																	140185549		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1320G>T	3.37:g.140185549G>T			B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A440	ENST00000458420.3	37	c.1320	CCDS3112.1	3																																																																																			CLSTN2	-	superfamily_ConA-like_lec_gl_sf	ENSG00000158258		0.577	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3		0.00	40	0	G	NM_022131		140185549	+1			no_errors	ENST00000458420	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.037	T
CNGA3	1261	genome.wustl.edu	37	2	99012551	99012551	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:99012551G>T	ENST00000272602.2	+	7	957	c.918G>T	c.(916-918)ttG>ttT	p.L306F	CNGA3_ENST00000409937.1_Missense_Mutation_p.L310F|CNGA3_ENST00000436404.2_Missense_Mutation_p.L288F|CNGA3_ENST00000393504.1_Missense_Mutation_p.L306F			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	306					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.L306F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TTGGGAACTTGGTCTTGTACA	0.463																																																	1	Substitution - Missense(1)	lung(1)											116.0	116.0	116.0					2																	99012551		2203	4300	6503	SO:0001583	missense	0			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.918G>T	2.37:g.99012551G>T	ENSP00000272602:p.Leu306Phe		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.L306F	ENST00000272602.2	37	c.918	CCDS2034.1	2	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491763	0.44249	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.99462	-5.94;-5.94;-5.94;-5.94	4.99	1.92	0.25849	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99521	0.9829	H	0.96720	3.87	0.54753	D	0.999986	D;D;D	0.89917	1.0;0.998;0.972	D;D;P	0.85130	0.997;0.995;0.877	D	0.98550	1.0636	10	0.87932	D	0	.	2.8198	0.05468	0.0952:0.1308:0.4548:0.3191	.	310;288;306	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	F	306;288;306;310	ENSP00000377140:L306F;ENSP00000410070:L288F;ENSP00000272602:L306F;ENSP00000386761:L310F	ENSP00000272602:L306F	L	+	3	2	CNGA3	98378983	0.924000	0.31332	1.000000	0.80357	0.952000	0.60782	-0.041000	0.12084	0.688000	0.31529	0.563000	0.77884	TTG	CNGA3	-	pfam_Ion_trans_dom	ENSG00000144191		0.463	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGA3	HGNC	protein_coding	OTTHUMT00000252986.1		0.00	60	0	G	NM_001298		99012551	+1			no_errors	ENST00000272602	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.995	T
CNTNAP5	129684	genome.wustl.edu	37	2	125204397	125204398	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:125204397_125204398GC>TT	ENST00000431078.1	+	6	1165_1166	c.801_802GC>TT	c.(799-804)caGCac>caTTac	p.267_268QH>HY		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	267	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.Q267Q(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGATGACCAGCACTGGCACTC	0.609																																																	1	Substitution - coding silent(1)	lung(1)																																								SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	Exception_encountered	2.37:g.125204397_125204398delinsTT	ENSP00000399013:p.Q267_H268delinsHY		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.Q267H|p.H268Y	ENST00000431078.1	37	c.801|c.802	CCDS46401.1	2																																																																																			CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000155052		0.609	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0.00	17	0	G|C			125204397|125204398	+1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	55.56	12	15	SNP	1.000	T
COBLL1	22837	genome.wustl.edu	37	2	165551296	165551296	+	Frame_Shift_Del	DEL	A	A	-			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:165551296delA	ENST00000392717.2	-	13	2838	c.2834delT	c.(2833-2835)ttgfs	p.L945fs	COBLL1_ENST00000409184.3_Frame_Shift_Del_p.L907fs|COBLL1_ENST00000194871.6_Frame_Shift_Del_p.L974fs|COBLL1_ENST00000342193.4_Frame_Shift_Del_p.L907fs|COBLL1_ENST00000375458.2_Frame_Shift_Del_p.L869fs			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	945						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CTGCATCTGCAAAAAAAAAGA	0.418																																																	0													32.0	35.0	34.0					2																	165551296		2203	4300	6503	SO:0001589	frameshift_variant	0			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2834delT	2.37:g.165551296delA	ENSP00000376478:p.Leu945fs		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Frame_Shift_Del	DEL	pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom	p.L974fs	ENST00000392717.2	37	c.2921		2																																																																																			COBLL1	-	NULL	ENSG00000082438		0.418	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	HGNC	protein_coding			0.00	12	0	A	NM_014900		165551296	-1	tier1		no_errors	ENST00000194871	ensembl	human	known	74_37	frame_shift_del	9.26	49	5	DEL	0.972	-
COL11A2	1302	genome.wustl.edu	37	6	33138676	33138676	+	Nonsense_Mutation	SNP	C	C	A	rs550153707		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr6:33138676C>A	ENST00000374708.4	-	44	3385	c.3127G>T	c.(3127-3129)Gga>Tga	p.G1043*	COL11A2_ENST00000395197.1_Nonsense_Mutation_p.G1069*|COL11A2_ENST00000374714.1_Nonsense_Mutation_p.G1103*|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Nonsense_Mutation_p.G1048*|COL11A2_ENST00000374713.1_Nonsense_Mutation_p.G1082*|COL11A2_ENST00000357486.1_Nonsense_Mutation_p.G1108*|COL11A2_ENST00000361917.1_Nonsense_Mutation_p.G1022*|COL11A2_ENST00000341947.2_Nonsense_Mutation_p.G1129*	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1129	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G1129R(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCCCGAGCTCCGGGCTCCCCA	0.577																																					Melanoma(1;90 116 3946 5341 17093)												1	Substitution - Missense(1)	prostate(1)											68.0	75.0	72.0					6																	33138676		1510	2709	4219	SO:0001587	stop_gained	0			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.3127G>T	6.37:g.33138676C>A	ENSP00000363840:p.Gly1043*		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.G1129*	ENST00000374708.4	37	c.3385	CCDS43452.1	6	.	.	.	.	.	.	.	.	.	.	C	44	10.901137	0.99485	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	.	.	.	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.5206	0.75862	0.0:1.0:0.0:0.0	.	.	.	.	X	1043;1129;1108;1103;1082;1069;1048;1022	.	ENSP00000339915:G1129X	G	-	1	0	COL11A2	33246654	1.000000	0.71417	0.985000	0.45067	0.842000	0.47809	7.266000	0.78452	2.510000	0.84645	0.551000	0.68910	GGA	COL11A2	-	pfam_Collagen	ENSG00000204248		0.577	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	HGNC	protein_coding	OTTHUMT00000076032.2		0.00	51	0	C			33138676	-1			no_errors	ENST00000341947	ensembl	human	known	74_37	nonsense	7.41	25	2	SNP	0.999	A
COL15A1	1306	genome.wustl.edu	37	9	101706528	101706528	+	Silent	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr9:101706528G>T	ENST00000375001.3	+	2	519	c.96G>T	c.(94-96)gcG>gcT	p.A32A	RP11-92C4.6_ENST00000605631.1_RNA	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	32					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCCGCGGTGCGACAGGTAAGC	0.682																																																	0													50.0	34.0	39.0					9																	101706528		2202	4300	6502	SO:0001819	synonymous_variant	0			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.96G>T	9.37:g.101706528G>T			Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.A32	ENST00000375001.3	37	c.96	CCDS35081.1	9																																																																																			COL15A1	-	NULL	ENSG00000204291		0.682	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	HGNC	protein_coding	OTTHUMT00000053386.3	-	0.00	43	0	G	NM_001855		101706528	+1	tier1	-	no_errors	ENST00000375001	ensembl	human	known	74_37	silent	34.15	27	14	SNP	0.173	T
COL17A1	1308	genome.wustl.edu	37	10	105837199	105837199	+	Silent	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:105837199G>A	ENST00000353479.5	-	4	473	c.183C>T	c.(181-183)agC>agT	p.S61S	COL17A1_ENST00000393211.3_Silent_p.S61S|COL17A1_ENST00000369733.3_Silent_p.S61S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	61	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGTAGCCGCTGCTGCCATGAG	0.522																																																	0													62.0	56.0	58.0					10																	105837199		2203	4300	6503	SO:0001819	synonymous_variant	0			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.183C>T	10.37:g.105837199G>A			Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	pfam_Collagen	p.S61	ENST00000353479.5	37	c.183	CCDS7554.1	10																																																																																			COL17A1	-	NULL	ENSG00000065618		0.522	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	HGNC	protein_coding	OTTHUMT00000050181.1	-	0.00	16	0	G	NM_130778, NM_000494		105837199	-1	tier1	-	no_errors	ENST00000353479	ensembl	human	known	74_37	silent	25.00	12	4	SNP	1.000	A
COL22A1	169044	genome.wustl.edu	37	8	139825204	139825204	+	Missense_Mutation	SNP	C	C	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr8:139825204C>A	ENST00000303045.6	-	8	1750	c.1304G>T	c.(1303-1305)tGt>tTt	p.C435F	COL22A1_ENST00000435777.1_Missense_Mutation_p.C435F	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	435					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GATATCACAACAAGTCTCCAA	0.512										HNSCC(7;0.00092)																																							0													157.0	128.0	138.0					8																	139825204		2203	4300	6503	SO:0001583	missense	0			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1304G>T	8.37:g.139825204C>A	ENSP00000303153:p.Cys435Phe		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.C435F	ENST00000303045.6	37	c.1304	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144155	0.77888	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	T;T	0.02301	4.35;4.35	4.72	4.72	0.59763	Concanavalin A-like lectin/glucanase (1);	0.000000	0.47093	U	0.000248	T	0.14013	0.0339	M	0.85462	2.755	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.00480	-1.1714	9	.	.	.	.	14.8862	0.70570	0.0:1.0:0.0:0.0	.	435	Q8NFW1	COMA1_HUMAN	F	435	ENSP00000303153:C435F;ENSP00000387655:C435F	.	C	-	2	0	COL22A1	139894386	1.000000	0.71417	0.772000	0.31596	0.982000	0.71751	7.294000	0.78760	2.203000	0.70933	0.460000	0.39030	TGT	COL22A1	-	superfamily_ConA-like_lec_gl_sf	ENSG00000169436		0.512	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	-	0.00	26	0	C	XM_291257		139825204	-1	tier1	-	no_errors	ENST00000303045	ensembl	human	known	74_37	missense	10.64	42	5	SNP	1.000	A
CRB1	23418	genome.wustl.edu	37	1	197396689	197396689	+	Missense_Mutation	SNP	C	C	T	rs28939720		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:197396689C>T	ENST00000367400.3	+	7	2369	c.2234C>T	c.(2233-2235)aCg>aTg	p.T745M	CRB1_ENST00000535699.1_Missense_Mutation_p.T676M|CRB1_ENST00000367397.1_Missense_Mutation_p.T126M|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.T226M|CRB1_ENST00000367399.2_Missense_Mutation_p.T633M	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	745	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.		T -> M (in RP12 and LCA8; dbSNP:rs28939720). {ECO:0000269|PubMed:10508521, ECO:0000269|PubMed:15024725, ECO:0000269|PubMed:15459956, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17724218, ECO:0000269|PubMed:20591486, ECO:0000269|PubMed:20956273, ECO:0000269|PubMed:22334370}.		cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T745M(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTTGTCCGAACGCTTCAACCA	0.483																																																	2	Substitution - Missense(2)	large_intestine(2)	GRCh37	CM992150	CRB1	M	rs28939720	C	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	84.0	75.0	78.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1898,2234	4.8	0.2	1	dbSNP_125	78	0,8600		0,0,4300	no	missense,missense	CRB1	NM_001193640.1,NM_201253.2	81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	633/1295,745/1407	197396689	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2234C>T	1.37:g.197396689C>T	ENSP00000356370:p.Thr745Met		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.T745M	ENST00000367400.3	37	c.2234	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723780	0.48728	2.27E-4	0.0	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55	5.75	4.85	0.62838	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.95004	0.8383	M	0.88906	2.99	0.80722	A	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.986;0.999	D	0.95323	0.8422	8	0.54805	T	0.06	.	14.531	0.67926	0.0:0.9302:0.0:0.0698	rs28939720	676;633;394;745	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	M	676;745;633;226;126;394	ENSP00000438786:T676M;ENSP00000356370:T745M;ENSP00000356369:T633M;ENSP00000444556:T226M;ENSP00000356367:T126M	ENSP00000356367:T126M	T	+	2	0	CRB1	195663312	1.000000	0.71417	0.222000	0.23844	0.022000	0.10575	5.591000	0.67536	1.425000	0.47237	0.650000	0.86243	ACG	CRB1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000134376		0.483	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2	-	0.00	39	0	C	NM_201253		197396689	+1	tier1	rs28939720	no_errors	ENST00000367400	ensembl	human	known	74_37	missense	29.03	22	9	SNP	0.999	T
CREB3L1	90993	genome.wustl.edu	37	11	46342074	46342074	+	Missense_Mutation	SNP	C	C	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr11:46342074C>A	ENST00000529193.1	+	11	1969	c.1518C>A	c.(1516-1518)caC>caA	p.H506Q	CREB3L1_ENST00000288400.3_Missense_Mutation_p.H506Q			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	506					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		AGTGGTTCCACGACAGGTGGG	0.637			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)			Dom	yes		11	11p11.2	90993	cAMP responsive element binding protein 3-like 1		M	0													29.0	34.0	32.0					11																	46342074		2060	4181	6241	SO:0001583	missense	0				CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"""basic leucine zipper proteins"""	18856	protein-coding gene	gene with protein product	"""BBF-2 homolog (drosophila)"""						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.1518C>A	11.37:g.46342074C>A	ENSP00000434939:p.His506Gln		Q8N2D5|Q96CP0	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB	p.H506Q	ENST00000529193.1	37	c.1518	CCDS53620.1	11	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007069	0.35415	.	.	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000446415	T;T	0.65549	-0.16;-0.16	4.69	-7.64	0.01286	.	0.717430	0.12931	N	0.427365	T	0.46034	0.1372	L	0.47716	1.5	0.24045	N	0.996062	B;B	0.12013	0.005;0.0	B;B	0.14023	0.01;0.002	T	0.20907	-1.0261	10	0.33940	T	0.23	-10.5361	10.0177	0.42024	0.0:0.197:0.1045:0.6985	.	418;506	Q96BA8-2;Q96BA8	.;CR3L1_HUMAN	Q	506;506;418	ENSP00000434939:H506Q;ENSP00000288400:H506Q	ENSP00000288400:H506Q	H	+	3	2	CREB3L1	46298650	0.000000	0.05858	0.278000	0.24718	0.939000	0.58152	-3.589000	0.00422	-1.462000	0.01907	-0.450000	0.05554	CAC	CREB3L1	-	NULL	ENSG00000157613		0.637	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CREB3L1	HGNC	protein_coding	OTTHUMT00000389702.1	-	0.00	59	0	C	NM_052854		46342074	+1	tier1	-	no_errors	ENST00000288400	ensembl	human	known	74_37	missense	37.50	10	6	SNP	0.393	A
CSMD2	114784	genome.wustl.edu	37	1	34092092	34092092	+	Missense_Mutation	SNP	A	A	G			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:34092092A>G	ENST00000373380.1	-	12	2129	c.1909T>C	c.(1909-1911)Tac>Cac	p.Y637H	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.Y1764H			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1724	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATACCTTGGTAGACAAAGTGG	0.532																																																	0													57.0	51.0	53.0					1																	34092092		2203	4300	6503	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1909T>C	1.37:g.34092092A>G	ENSP00000362478:p.Tyr637His		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	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.Y1764H	ENST00000373380.1	37	c.5290		1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.988717	0.93106	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.71817	-0.6;-0.6	5.87	5.87	0.94306	CUB (5);	0.000000	0.85682	D	0.000000	D	0.88662	0.6497	H	0.95745	3.715	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.90991	0.4835	10	0.49607	T	0.09	.	15.4617	0.75363	1.0:0.0:0.0:0.0	.	637;1724;1764	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	H	1764;637	ENSP00000362479:Y1764H;ENSP00000362478:Y637H	ENSP00000241312:Y1724H	Y	-	1	0	CSMD2	33864679	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.292000	0.96076	2.248000	0.74166	0.533000	0.62120	TAC	CSMD2	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000121904		0.532	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4	-	0.00	35	0	A	NM_052896		34092092	-1	tier1	-	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	15.79	16	3	SNP	1.000	G
CSMD3	114788	genome.wustl.edu	37	8	113267520	113267520	+	Silent	SNP	T	T	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr8:113267520T>A	ENST00000297405.5	-	62	10243	c.9999A>T	c.(9997-9999)gcA>gcT	p.A3333A	CSMD3_ENST00000343508.3_Silent_p.A3293A|CSMD3_ENST00000352409.3_Silent_p.A3263A|CSMD3_ENST00000455883.2_Silent_p.A3164A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3333	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGTGCCATCTGCTTGACATA	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													133.0	120.0	124.0					8																	113267520		2203	4300	6503	SO:0001819	synonymous_variant	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9999A>T	8.37:g.113267520T>A			Q96PZ3	Silent	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.A3333	ENST00000297405.5	37	c.9999	CCDS6315.1	8																																																																																			CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0.00	33	0	T	NM_052900		113267520	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	silent	36.54	33	19	SNP	0.996	A
CST1	1469	genome.wustl.edu	37	20	23731294	23731294	+	Silent	SNP	T	T	C	rs3188307		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr20:23731294T>C	ENST00000304749.2	-	1	280	c.210A>G	c.(208-210)gtA>gtG	p.V70V	CST1_ENST00000398402.1_Silent_p.V70V	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	70					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					TGGCTCTTAGTACCCGCAGCG	0.567																																																	0													130.0	105.0	113.0					20																	23731294		2203	4300	6503	SO:0001819	synonymous_variant	0			M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.210A>G	20.37:g.23731294T>C			Q96LE6|Q9UCQ6	Silent	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.V70	ENST00000304749.2	37	c.210	CCDS13160.1	20																																																																																			CST1	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	ENSG00000170373		0.567	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST1	HGNC	protein_coding	OTTHUMT00000078351.2	-	0.00	56	0	T	NM_001898		23731294	-1	tier1	rs3188307	no_errors	ENST00000304749	ensembl	human	known	74_37	silent	80.00	11	44	SNP	0.132	C
CYP2W1	54905	genome.wustl.edu	37	7	1024091	1024091	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr7:1024091G>A	ENST00000308919.7	+	2	231	c.218G>A	c.(217-219)cGc>cAc	p.R73H	CYP2W1_ENST00000340150.6_Missense_Mutation_p.R17H	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	73					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CACCTGGGGCGCCAGAAGACG	0.706																																																	0													14.0	16.0	15.0					7																	1024091		2062	4085	6147	SO:0001583	missense	0			AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"""Cytochrome P450s"""	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.218G>A	7.37:g.1024091G>A	ENSP00000310149:p.Arg73His			Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R73H	ENST00000308919.7	37	c.218	CCDS5319.2	7	.	.	.	.	.	.	.	.	.	.	G	5.097	0.203537	0.09704	.	.	ENSG00000073067	ENST00000308919;ENST00000340150	T;T	0.68025	-0.3;-0.3	5.45	-10.9	0.00192	.	1.697930	0.03075	N	0.157644	T	0.37865	0.1019	N	0.16790	0.44	0.09310	N	1	B;B	0.15719	0.012;0.014	B;B	0.15484	0.013;0.009	T	0.24799	-1.0150	10	0.14656	T	0.56	.	2.0541	0.03577	0.1971:0.2665:0.0975:0.4389	.	17;73	A6NJ10;Q8TAV3	.;CP2W1_HUMAN	H	73;17	ENSP00000310149:R73H;ENSP00000344178:R17H	ENSP00000310149:R73H	R	+	2	0	CYP2W1	990617	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-2.096000	0.01349	-2.795000	0.00354	0.478000	0.44815	CGC	CYP2W1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV	ENSG00000073067		0.706	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2W1	HGNC	protein_coding	OTTHUMT00000157249.1	-	0.00	26	0	G	NM_017781		1024091	+1	tier1	-	no_errors	ENST00000308919	ensembl	human	known	74_37	missense	25.00	15	5	SNP	0.000	A
DAB2IP	153090	genome.wustl.edu	37	9	124534910	124534910	+	Silent	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr9:124534910G>A	ENST00000408936.3	+	12	2285	c.2103G>A	c.(2101-2103)ccG>ccA	p.P701P	DAB2IP_ENST00000309989.1_Silent_p.P577P|DAB2IP_ENST00000259371.2_Silent_p.P673P			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	701	Necessary for interaction with AKT1.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCCGGTTACCGTCTCCAACCC	0.557																																																	0													101.0	96.0	98.0					9																	124534910		2203	4300	6503	SO:0001819	synonymous_variant	0			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.2103G>A	9.37:g.124534910G>A			A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.P701	ENST00000408936.3	37	c.2103		9																																																																																			DAB2IP	-	pfam_DUF3498	ENSG00000136848		0.557	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	DAB2IP	HGNC	protein_coding	OTTHUMT00000317857.1		0.00	32	0	G	NM_032552		124534910	+1			no_errors	ENST00000408936	ensembl	human	known	74_37	silent	5.41	35	2	SNP	1.000	A
DDX3X	1654	genome.wustl.edu	37	X	41207099	41207100	+	3'UTR	INS	-	-	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chrX:41207099_41207100insT	ENST00000399959.2	+	0	2971_2972				RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_3'UTR|DDX3X_ENST00000441189.2_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked						ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CTCCACTGAAATTTTTTTTTTA	0.401										HNSCC(61;0.18)																																							0																																										SO:0001624	3_prime_UTR_variant	0			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.*128->T	X.37:g.41207109_41207109dupT			A8K538|B4E3E8|O15536	RNA	INS	-	NULL	ENST00000399959.2	37	NULL	CCDS43931.1	X																																																																																			DDX3X	-	-	ENSG00000215301		0.401	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3X	HGNC	protein_coding	OTTHUMT00000056253.1		0.00	20	0	-	NM_024005		41207100	+1	tier1		no_errors	ENST00000478993	ensembl	human	known	74_37	rna	7.14	26	2	INS	1.000:1.000	T
DEFB119	245932	genome.wustl.edu	37	20	29976886	29976886	+	Intron	SNP	G	G	T	rs556128922		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr20:29976886G>T	ENST00000376321.3	-	1	181				DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000376315.2_Missense_Mutation_p.T70N	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119						defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CTGAGGAGTGGTCCAGCCAAG	0.403													G|||	1	0.000199681	0.0	0.0	5008	,	,		20886	0.001		0.0	False		,,,				2504	0.0																0													150.0	133.0	139.0					20																	29976886		2203	4300	6503	SO:0001627	intron_variant	0			AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"""Defensins, beta"""	18099	protein-coding gene	gene with protein product			"""defensin, beta 120"""	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.61+1339C>A	20.37:g.29976886G>T			Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Missense_Mutation	SNP	superfamily_Scorpion_toxin-like	p.T70N	ENST00000376321.3	37	c.209	CCDS13178.1	20	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302864	0.81136	.	.	ENSG00000180483	ENST00000376315	T	0.37752	1.18	3.72	3.72	0.42706	.	0.731612	0.11844	N	0.523987	T	0.56485	0.1988	.	.	.	0.22521	N	0.99903	D	0.89917	1.0	D	0.74674	0.984	T	0.41574	-0.9501	9	0.87932	D	0	-15.0031	11.2883	0.49234	0.0:0.0:1.0:0.0	.	70	Q8N690-2	.	N	70	ENSP00000365492:T70N	ENSP00000365492:T70N	T	-	2	0	DEFB119	29440547	0.107000	0.21998	0.588000	0.28705	0.862000	0.49288	2.110000	0.41873	2.385000	0.81259	0.563000	0.77884	ACC	DEFB119	-	NULL	ENSG00000180483		0.403	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB119	HGNC	protein_coding	OTTHUMT00000078514.1	-	0.00	54	0	G	NM_153289		29976886	-1	tier1	-	no_errors	ENST00000376315	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.597	T
DMBT1	1755	genome.wustl.edu	37	10	124336078	124336078	+	Missense_Mutation	SNP	G	G	T	rs539964635		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:124336078G>T	ENST00000338354.3	+	7	553	c.447G>T	c.(445-447)atG>atT	p.M149I	DMBT1_ENST00000344338.3_Missense_Mutation_p.M149I|DMBT1_ENST00000330163.4_Missense_Mutation_p.M149I|DMBT1_ENST00000368955.3_Missense_Mutation_p.M149I|DMBT1_ENST00000368909.3_Missense_Mutation_p.M149I|DMBT1_ENST00000368956.2_Missense_Mutation_p.M149I|DMBT1_ENST00000359586.6_Missense_Mutation_p.M149I			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	149	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCTGGGCCATGTCAGCTCCAG	0.602																																					Ovarian(182;93 2026 18125 22222 38972)												0													150.0	158.0	156.0					10																	124336078		2124	4256	6380	SO:0001583	missense	0				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.447G>T	10.37:g.124336078G>T	ENSP00000342210:p.Met149Ile		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR	p.M149I	ENST00000338354.3	37	c.447		10	.	.	.	.	.	.	.	.	.	.	g	2.769	-0.256160	0.05829	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99	4.41	-1.68	0.08212	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.12475	0.0303	N	0.01656	-0.775	0.09310	N	1	B;B;B;B;B;B	0.33883	0.0;0.0;0.005;0.0;0.041;0.43	B;B;B;B;B;B	0.34346	0.004;0.002;0.012;0.002;0.078;0.18	T	0.14392	-1.0474	9	0.27785	T	0.31	.	0.6541	0.00831	0.2806:0.1093:0.2398:0.3703	.	149;149;149;149;149;149	F8WEF7;Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	I	149	ENSP00000342210:M149I;ENSP00000343175:M149I;ENSP00000327747:M149I;ENSP00000357905:M149I;ENSP00000357951:M149I;ENSP00000357952:M149I;ENSP00000352593:M149I	ENSP00000331522:M149I	M	+	3	0	DMBT1	124326068	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-6.055000	0.00083	-0.183000	0.10585	-0.140000	0.14226	ATG	DMBT1	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000187908		0.602	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	-	0.00	185	0	G	NM_004406		124336078	+1	tier1	-	no_errors	ENST00000338354	ensembl	human	known	74_37	missense	21.77	97	27	SNP	0.001	T
DNAH11	8701	genome.wustl.edu	37	7	21657235	21657235	+	Splice_Site	SNP	A	A	G			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr7:21657235A>G	ENST00000409508.3	+	23	4126		c.e23-1		DNAH11_ENST00000328843.6_Splice_Site	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACTTTTCTTTAGGAAATTTGG	0.438									Kartagener syndrome																																								0													56.0	52.0	53.0					7																	21657235		1844	4096	5940	SO:0001630	splice_region_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4096-1A>G	7.37:g.21657235A>G			Q9UJ82	Splice_Site	SNP	-	e23-2	ENST00000409508.3	37	c.4111-2		7	.	.	.	.	.	.	.	.	.	.	A	11.51	1.660320	0.29515	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5509	0.68065	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH11	21623760	1.000000	0.71417	0.975000	0.42487	0.105000	0.19272	8.585000	0.90802	2.083000	0.62718	0.421000	0.28195	.	DNAH11	-	-	ENSG00000105877		0.438	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	-	0.00	40	0	A	NM_003777	Intron	21657235	+1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	splice_site	8.89	41	4	SNP	1.000	G
DNAH3	55567	genome.wustl.edu	37	16	21045322	21045322	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr16:21045322G>A	ENST00000261383.3	-	36	5170	c.5171C>T	c.(5170-5172)gCt>gTt	p.A1724V	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1724V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1724	AAA 2. {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)		GAGAGCTGCAGCCAACACTTT	0.527																																																	0													96.0	82.0	87.0					16																	21045322		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.5171C>T	16.37:g.21045322G>A	ENSP00000261383:p.Ala1724Val		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.A1724V	ENST00000261383.3	37	c.5171	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544801	0.86022	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.60548	0.18;0.18	4.88	4.88	0.63580	.	0.076356	0.53938	D	0.000054	T	0.69735	0.3144	M	0.92784	3.345	0.80722	D	1	P	0.44281	0.831	B	0.40636	0.335	T	0.79945	-0.1589	10	0.59425	D	0.04	.	18.4006	0.90515	0.0:0.0:1.0:0.0	.	1724	Q8TD57	DYH3_HUMAN	V	1724	ENSP00000261383:A1724V;ENSP00000394245:A1724V	ENSP00000261383:A1724V	A	-	2	0	DNAH3	20952823	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.426000	0.97469	2.413000	0.81919	0.655000	0.94253	GCT	DNAH3	-	superfamily_P-loop_NTPase	ENSG00000158486		0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1		0.00	27	0	G	NM_017539		21045322	-1			no_errors	ENST00000261383	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	A
DOCK1	1793	genome.wustl.edu	37	10	129224199	129224199	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:129224199C>G	ENST00000280333.6	+	47	4884	c.4775C>G	c.(4774-4776)cCg>cGg	p.P1592R		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1592	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GCACTGAGGCCGTTCCACGAG	0.488																																																	0													196.0	196.0	196.0					10																	129224199		1962	4155	6117	SO:0001583	missense	0			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4775C>G	10.37:g.129224199C>G	ENSP00000280333:p.Pro1592Arg		A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain	p.P1592R	ENST00000280333.6	37	c.4775		10	.	.	.	.	.	.	.	.	.	.	c	20.8	4.051168	0.75960	.	.	ENSG00000150760	ENST00000280333	T	0.17213	2.29	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.53610	0.1807	M	0.92923	3.36	0.80722	D	1	D;D;D	0.89917	0.986;1.0;0.998	D;D;D	0.97110	0.971;1.0;0.982	T	0.66228	-0.5976	10	0.87932	D	0	.	18.4785	0.90802	0.0:1.0:0.0:0.0	.	1592;1658;1592	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	R	1592	ENSP00000280333:P1592R	ENSP00000280333:P1592R	P	+	2	0	DOCK1	129114189	1.000000	0.71417	0.912000	0.35992	0.586000	0.36452	7.601000	0.82783	2.589000	0.87451	0.450000	0.29827	CCG	DOCK1	-	pfam_DOCK_C,superfamily_Cyt_c-like_dom	ENSG00000150760		0.488	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2		0.00	27	0	C	NM_001380		129224199	+1			no_errors	ENST00000280333	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	G
DOCK10	55619	genome.wustl.edu	37	2	225702493	225702493	+	Missense_Mutation	SNP	G	G	C	rs569075728		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:225702493G>C	ENST00000258390.7	-	25	2903	c.2836C>G	c.(2836-2838)Cag>Gag	p.Q946E	DOCK10_ENST00000409592.3_Missense_Mutation_p.Q940E	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	946					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ATATATGACTGGACAGAATGA	0.468																																																	0													80.0	79.0	79.0					2																	225702493		1953	4149	6102	SO:0001583	missense	0			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.2836C>G	2.37:g.225702493G>C	ENSP00000258390:p.Gln946Glu		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q946E	ENST00000258390.7	37	c.2836	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	G	12.95	2.092932	0.36952	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.64085	3.61;-0.08	5.67	4.71	0.59529	.	0.212900	0.49916	D	0.000131	T	0.56171	0.1967	L	0.44542	1.39	0.25874	N	0.983671	B;B	0.17852	0.024;0.008	B;B	0.15484	0.013;0.013	T	0.49588	-0.8924	10	0.39692	T	0.17	.	17.5059	0.87745	0.0:0.0:0.8405:0.1595	.	946;940	Q96BY6;B3FL70	DOC10_HUMAN;.	E	940;946	ENSP00000386694:Q940E;ENSP00000258390:Q946E	ENSP00000258390:Q946E	Q	-	1	0	DOCK10	225410737	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.160000	0.71862	2.680000	0.91292	0.563000	0.77884	CAG	DOCK10	-	superfamily_ARM-type_fold	ENSG00000135905		0.468	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1		0.00	39	0	G			225702493	-1			no_errors	ENST00000258390	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	C
DPEP3	64180	genome.wustl.edu	37	16	68010044	68010044	+	Missense_Mutation	SNP	T	T	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr16:68010044T>A	ENST00000268793.4	-	9	1630	c.1257A>T	c.(1255-1257)caA>caT	p.Q419H	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	394					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GAAGGACACCTTGAAGCTCTT	0.567																																																	0													171.0	166.0	167.0					16																	68010044		2198	4300	6498	SO:0001583	missense	0			AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.1257A>T	16.37:g.68010044T>A	ENSP00000268793:p.Gln419His		B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	pfam_Peptidase_M19	p.Q419H	ENST00000268793.4	37	c.1257	CCDS10856.1	16	.	.	.	.	.	.	.	.	.	.	T	13.86	2.361874	0.41801	.	.	ENSG00000141096	ENST00000268793	T	0.22743	1.94	4.76	-1.01	0.10169	.	0.342907	0.31113	N	0.008233	T	0.20129	0.0484	L	0.57536	1.79	0.32862	D	0.508138	B	0.22146	0.065	B	0.28553	0.091	T	0.14896	-1.0456	10	0.51188	T	0.08	-2.6918	9.9346	0.41543	0.0:0.476:0.0:0.524	.	394	Q9H4B8	DPEP3_HUMAN	H	419	ENSP00000268793:Q419H	ENSP00000268793:Q419H	Q	-	3	2	DPEP3	66567545	0.002000	0.14202	0.971000	0.41717	0.980000	0.70556	-0.400000	0.07241	-0.276000	0.09206	-0.256000	0.11100	CAA	DPEP3	-	pfam_Peptidase_M19	ENSG00000141096		0.567	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPEP3	HGNC	protein_coding	OTTHUMT00000268875.3	-	0.00	43	0	T	NM_022357		68010044	-1	tier1	-	no_errors	ENST00000268793	ensembl	human	known	74_37	missense	15.00	34	6	SNP	0.895	A
DPP10	57628	genome.wustl.edu	37	2	116101417	116101417	+	Missense_Mutation	SNP	C	C	A	rs201138141		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:116101417C>A	ENST00000410059.1	+	3	680	c.200C>A	c.(199-201)aCc>aAc	p.T67N	DPP10_ENST00000409163.1_Missense_Mutation_p.T17N|DPP10_ENST00000393147.2_Missense_Mutation_p.T71N|DPP10_ENST00000310323.8_Missense_Mutation_p.T60N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	67						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.T60S(1)|p.T67S(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCGTCAGAAACCAGATTGTCT	0.348																																																	2	Substitution - Missense(2)	lung(2)											91.0	95.0	93.0					2																	116101417		2203	4300	6503	SO:0001583	missense	0			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.200C>A	2.37:g.116101417C>A	ENSP00000386565:p.Thr67Asn		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.T71N	ENST00000410059.1	37	c.212	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773427	0.31411	.	.	ENSG00000175497	ENST00000436732;ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000419287;ENST00000476155	T;T;T;D;T;T;D	0.95788	0.87;0.87;0.87;-3.81;0.87;0.87;-3.81	5.85	4.97	0.65823	.	0.061993	0.64402	D	0.000006	D	0.89037	0.6601	N	0.08118	0	0.39208	D	0.963273	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.10450	0.005;0.001;0.002;0.002	D	0.85531	0.1209	10	0.48119	T	0.1	-22.09	13.0079	0.58717	0.0:0.838:0.162:0.0	.	60;71;63;67	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	17;67;17;63;71;60;17;17	ENSP00000391092:T17N;ENSP00000386565:T67N;ENSP00000387038:T17N;ENSP00000376854:T63N;ENSP00000376855:T71N;ENSP00000309066:T60N;ENSP00000402499:T17N	ENSP00000309066:T60N	T	+	2	0	DPP10	115817887	1.000000	0.71417	0.973000	0.42090	0.983000	0.72400	1.852000	0.39348	1.466000	0.48025	0.585000	0.79938	ACC	DPP10	-	NULL	ENSG00000175497		0.348	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4		0.00	33	0	C	NM_020868		116101417	+1			no_errors	ENST00000393147	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	A
DRP2	1821	genome.wustl.edu	37	X	100509527	100509527	+	Silent	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chrX:100509527G>T	ENST00000395209.3	+	18	2618	c.2091G>T	c.(2089-2091)gtG>gtT	p.V697V	DRP2_ENST00000538510.1_Silent_p.V697V|DRP2_ENST00000541709.1_Silent_p.V619V|DRP2_ENST00000402866.1_Silent_p.V697V	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	697					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TGCAATCAGTGCTGGAGGCTG	0.537																																																	0													73.0	53.0	60.0					X																	100509527		2203	4300	6503	SO:0001819	synonymous_variant	0			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2091G>T	X.37:g.100509527G>T			A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Silent	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ	p.V697	ENST00000395209.3	37	c.2091	CCDS14480.2	X																																																																																			DRP2	-	pirsf_Dystrophin-related_2	ENSG00000102385		0.537	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRP2	HGNC	protein_coding	OTTHUMT00000057522.3	-	0.00	31	0	G	NM_001939		100509527	+1	tier1	-	no_errors	ENST00000395209	ensembl	human	known	74_37	silent	15.00	17	3	SNP	0.985	T
ELK3	2004	genome.wustl.edu	37	12	96641019	96641019	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr12:96641019C>T	ENST00000228741.3	+	3	835	c.509C>T	c.(508-510)cCc>cTc	p.P170L	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	170					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					GAGGAGCCGCCCGAAGACAGC	0.572																																																	0													49.0	51.0	51.0					12																	96641019		2203	4300	6503	SO:0001583	missense	0			BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.509C>T	12.37:g.96641019C>T	ENSP00000228741:p.Pro170Leu		B2R6S6|Q6FG57|Q6GU29|Q9UD17	Missense_Mutation	SNP	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.P170L	ENST00000228741.3	37	c.509	CCDS9060.1	12	.	.	.	.	.	.	.	.	.	.	C	3.653	-0.071188	0.07228	.	.	ENSG00000111145	ENST00000228741	T	0.28454	1.61	5.65	1.17	0.20885	.	0.909752	0.09650	N	0.773819	T	0.13500	0.0327	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26292	-1.0107	10	0.34782	T	0.22	.	3.0065	0.06030	0.1163:0.4851:0.1202:0.2785	.	170	P41970	ELK3_HUMAN	L	170	ENSP00000228741:P170L	ENSP00000228741:P170L	P	+	2	0	ELK3	95165150	0.005000	0.15991	0.002000	0.10522	0.613000	0.37349	0.556000	0.23438	0.317000	0.23160	0.462000	0.41574	CCC	ELK3	-	NULL	ENSG00000111145		0.572	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELK3	HGNC	protein_coding	OTTHUMT00000408694.1	-	0.00	33	0	C	NM_005230		96641019	+1	tier1	-	no_errors	ENST00000228741	ensembl	human	known	74_37	missense	64.29	10	18	SNP	0.000	T
FMNL1	752	genome.wustl.edu	37	17	43318608	43318608	+	Intron	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr17:43318608G>T	ENST00000331495.3	+	13	1668				FMNL1_ENST00000587489.1_Intron|FMNL1_ENST00000328118.3_Intron|CTD-2020K17.3_ENST00000587534.1_RNA|CTD-2020K17.3_ENST00000393507.2_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1						actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GTGAGGCTGGGGCGGGTGGTA	0.612																																					GBM(164;1247 1997 8702 11086 51972)												0													30.0	26.0	27.0					17																	43318608		2203	4300	6503	SO:0001627	intron_variant	0			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.1332+11G>T	17.37:g.43318608G>T			D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	RNA	SNP	-	NULL	ENST00000331495.3	37	NULL	CCDS11497.1	17																																																																																			CTD-2020K17.3	-	-	ENSG00000233175		0.612	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000233175	Clone_based_vega_gene	protein_coding	OTTHUMT00000450198.1	-	0.00	47	0	G	NM_005892		43318608	-1	tier1	-	no_errors	ENST00000587534	ensembl	human	known	74_37	rna	10.81	33	4	SNP	0.001	T
MGAM2	93432	genome.wustl.edu	37	7	141820169	141820169	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr7:141820169G>T	ENST00000477922.3	+	3	228	c.174G>T	c.(172-174)caG>caT	p.Q58H	RP11-1220K2.2_ENST00000550469.2_Missense_Mutation_p.Q58H																endometrium(1)|lung(5)	6						CACCTGACCAGGAGGTGACCG	0.463																																																	0																																										SO:0001583	missense	0																														ENST00000477922.3:c.174G>T	7.37:g.141820169G>T	ENSP00000420449:p.Gln58His			Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,superfamily_P_trefoil,smart_P_trefoil	p.Q58H	ENST00000477922.3	37	c.174		7	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498395	0.26861	.	.	ENSG00000257743	ENST00000550469;ENST00000477922	T	0.55930	0.49	4.48	2.67	0.31697	P-type trefoil (4);	.	.	.	.	T	0.40015	0.1100	.	.	.	.	.	.	B	0.17038	0.02	B	0.20184	0.028	T	0.43261	-0.9402	7	0.45353	T	0.12	.	6.7593	0.23532	0.2126:0.0:0.7874:0.0	.	58	Q2M2H8	MGAL2_HUMAN	H	58	ENSP00000447431:Q58H	ENSP00000380641:Q58H	Q	+	3	2	RP11-1220K2.2	141466638	0.000000	0.05858	0.283000	0.24790	0.358000	0.29455	0.031000	0.13710	0.629000	0.30376	-0.140000	0.14226	CAG	RP11-1220K2.2	-	pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil	ENSG00000257743		0.463	RP11-1220K2.2-003	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	ENSG00000257743	Clone_based_vega_gene	protein_coding	OTTHUMT00000351325.3	-	0.00	29	0	G			141820169	+1	tier1	-	no_errors	ENST00000477922	ensembl	human	putative	74_37	missense	14.81	23	4	SNP	0.214	T
ENTHD2	146705	genome.wustl.edu	37	17	79205329	79205329	+	Intron	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr17:79205329G>A	ENST00000300714.3	-	9	873				AC027601.1_ENST00000575922.1_RNA|AC027601.1_ENST00000569559.1_RNA|ENTHD2_ENST00000374769.2_Intron	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2							cytoplasmic vesicle (GO:0031410)											CTCCTCCCTCGCCCACGGTTG	0.692																																																	0													19.0	16.0	17.0					17																	79205329		2196	4284	6480	SO:0001627	intron_variant	0			AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 56"""	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.815+48C>T	17.37:g.79205329G>A			Q6ZQU0|Q6ZSQ9	RNA	SNP	-	NULL	ENST00000300714.3	37	NULL	CCDS11779.1	17																																																																																			AC027601.1	-	-	ENSG00000260005		0.692	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000260005	Clone_based_vega_gene	protein_coding	OTTHUMT00000439315.1	-	0.00	83	0	G	NM_144679		79205329	+1	tier1	-	no_errors	ENST00000575922	ensembl	human	known	74_37	rna	24.24	49	16	SNP	0.000	A
EPHA2	1969	genome.wustl.edu	37	1	16458592	16458592	+	Silent	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:16458592C>T	ENST00000358432.5	-	13	2446	c.2292G>A	c.(2290-2292)ctG>ctA	p.L764L		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	764	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GGTCGTCCTCCAGCACGCGGG	0.607																																																	0													123.0	110.0	114.0					1																	16458592		2203	4300	6503	SO:0001819	synonymous_variant	0			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2292G>A	1.37:g.16458592C>T			B5A968|Q8N3Z2	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.L764	ENST00000358432.5	37	c.2292	CCDS169.1	1																																																																																			EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000142627		0.607	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1		0.00	72	0	C	NM_004431		16458592	-1			no_errors	ENST00000358432	ensembl	human	known	74_37	silent	9.30	39	4	SNP	1.000	T
EPHA8	2046	genome.wustl.edu	37	1	22925517	22925517	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:22925517C>T	ENST00000166244.3	+	13	2437	c.2365C>T	c.(2365-2367)Ccg>Tcg	p.P789S		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	789	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGAGGACGACCCGGATGCTGC	0.657																																																	0													49.0	38.0	42.0					1																	22925517		2201	4299	6500	SO:0001583	missense	0			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2365C>T	1.37:g.22925517C>T	ENSP00000166244:p.Pro789Ser		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.P789S	ENST00000166244.3	37	c.2365	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834869	0.50951	.	.	ENSG00000070886	ENST00000166244	T	0.81163	-1.46	4.31	2.37	0.29283	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.145290	0.46758	D	0.000265	T	0.61022	0.2314	N	0.03016	-0.435	0.80722	D	1	D	0.69078	0.997	P	0.49561	0.615	T	0.56068	-0.8040	10	0.18276	T	0.48	.	8.57	0.33563	0.0:0.7588:0.1539:0.0873	.	789	P29322	EPHA8_HUMAN	S	789	ENSP00000166244:P789S	ENSP00000166244:P789S	P	+	1	0	EPHA8	22798104	1.000000	0.71417	0.452000	0.26994	0.950000	0.60333	2.590000	0.46154	0.535000	0.28714	0.555000	0.69702	CCG	EPHA8	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000070886		0.657	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	HGNC	protein_coding	OTTHUMT00000008085.1	-	0.00	34	0	C	NM_020526		22925517	+1	tier1	-	no_errors	ENST00000166244	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T
EPHB1	2047	genome.wustl.edu	37	3	134880886	134880886	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:134880886G>T	ENST00000398015.3	+	7	1819	c.1449G>T	c.(1447-1449)atG>atT	p.M483I	EPHB1_ENST00000493838.1_Missense_Mutation_p.M44I	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	483	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ACTCCTCCATGGCCAGGAGTC	0.552																																																	0													96.0	100.0	99.0					3																	134880886		2076	4231	6307	SO:0001583	missense	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1449G>T	3.37:g.134880886G>T	ENSP00000381097:p.Met483Ile		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.M483I	ENST00000398015.3	37	c.1449	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	G	4.082	0.013118	0.07912	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.55930	0.49;0.49	5.54	5.54	0.83059	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.282642	0.39020	N	0.001483	T	0.22513	0.0543	N	0.01242	-0.935	0.33799	D	0.626486	B	0.02656	0.0	B	0.04013	0.001	T	0.29181	-1.0020	10	0.10111	T	0.7	.	12.9216	0.58234	0.0733:0.0:0.9267:0.0	.	483	P54762	EPHB1_HUMAN	I	483;44	ENSP00000381097:M483I;ENSP00000419574:M44I	ENSP00000381097:M483I	M	+	3	0	EPHB1	136363576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.691000	0.37721	2.884000	0.98904	0.655000	0.94253	ATG	EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000154928		0.552	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1		0.00	51	0	G	NM_004441		134880886	+1			no_errors	ENST00000398015	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	T
ESCO2	157570	genome.wustl.edu	37	8	27634506	27634506	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr8:27634506G>T	ENST00000305188.8	+	3	919	c.681G>T	c.(679-681)gaG>gaT	p.E227D	ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	227					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TGGAAAATGAGCCGTCACTGG	0.398									SC Phocomelia syndrome																																								0													46.0	49.0	48.0					8																	27634506		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.681G>T	8.37:g.27634506G>T	ENSP00000306999:p.Glu227Asp		B3KW59|Q49AP4	Missense_Mutation	SNP	NULL	p.E227D	ENST00000305188.8	37	c.681	CCDS34872.1	8	.	.	.	.	.	.	.	.	.	.	G	7.727	0.698510	0.15106	.	.	ENSG00000171320	ENST00000305188	T	0.64085	-0.08	5.61	-1.61	0.08399	.	0.921316	0.09147	N	0.842096	T	0.43986	0.1272	N	0.22421	0.69	0.09310	N	0.999997	B;B	0.27732	0.187;0.067	B;B	0.29716	0.106;0.025	T	0.39396	-0.9616	10	0.56958	D	0.05	-0.5591	5.3468	0.16014	0.5625:0.1638:0.2737:0.0	.	227;227	E5RFE4;Q56NI9	.;ESCO2_HUMAN	D	227	ENSP00000306999:E227D	ENSP00000306999:E227D	E	+	3	2	ESCO2	27690425	0.298000	0.24417	0.018000	0.16275	0.061000	0.15899	0.468000	0.22051	-0.197000	0.10350	-0.229000	0.12294	GAG	ESCO2	-	NULL	ENSG00000171320		0.398	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESCO2	HGNC	protein_coding	OTTHUMT00000376276.1	-	0.00	57	0	G	NM_001017420		27634506	+1	tier1	-	no_errors	ENST00000305188	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.002	T
EZH1	2145	genome.wustl.edu	37	17	40870596	40870596	+	Silent	SNP	A	A	T	rs192650282		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr17:40870596A>T	ENST00000428826.2	-	9	928	c.807T>A	c.(805-807)ctT>ctA	p.L269L	EZH1_ENST00000435174.1_Silent_p.L130L|EZH1_ENST00000585893.1_Silent_p.L229L|EZH1_ENST00000592743.1_Silent_p.L269L|EZH1_ENST00000415827.2_Silent_p.L260L|EZH1_ENST00000590078.1_Silent_p.L199L			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	269					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)	p.L269L(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		ACTGAGGGGGAAGTGCATTGG	0.512																																																	1	Substitution - coding silent(1)	large_intestine(1)											127.0	124.0	126.0					17																	40870596		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.807T>A	17.37:g.40870596A>T			A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Silent	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.L269	ENST00000428826.2	37	c.807	CCDS32659.1	17																																																																																			EZH1	-	NULL	ENSG00000108799		0.512	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EZH1	HGNC	protein_coding	OTTHUMT00000452347.1		0.00	28	0	A	NM_001991		40870596	-1			no_errors	ENST00000428826	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.999	T
FAM205B	389715	genome.wustl.edu	37	9	34834839	34834839	+	RNA	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr9:34834839G>A	ENST00000455647.2	-	0	1554							Q63HN1	F205B_HUMAN	family with sequence similarity 205, member B																		GGGTGGGGCTGACTGGGGTGA	0.502																																																	0																																												0					9p13.3	2013-05-22	2011-08-15	2011-08-15	ENSG00000257198	ENSG00000257198			24504	other	unknown			"""chromosome 9 open reading frame 144"""	C9orf144			Standard	NR_024481		Approved	DKFZp434J193, C9orf144A	uc003zvp.4	Q63HN1	OTTHUMG00000019839		9.37:g.34834839G>A			Q6ZRJ7	RNA	SNP	-	NULL	ENST00000455647.2	37	NULL		9	.	.	.	.	.	.	.	.	.	.	G	13.58	2.278951	0.40294	.	.	ENSG00000257198	ENST00000455647	.	.	.	4.1	3.2	0.36748	.	1.240650	0.05910	N	0.631481	T	0.36386	0.0965	.	.	.	0.20074	N	0.999935	P	0.52061	0.95	P	0.44946	0.465	T	0.24083	-1.0170	8	0.59425	D	0.04	.	7.7197	0.28725	0.1153:0.0:0.8847:0.0	.	217	Q63HN1	F205B_HUMAN	L	217	.	ENSP00000398718:S217L	S	-	2	0	AL589645.1	34824839	0.049000	0.20398	0.027000	0.17364	0.072000	0.16883	1.396000	0.34531	1.095000	0.41419	0.549000	0.68633	TCA	FAM205B	-	-	ENSG00000257198		0.502	FAM205B-001	KNOWN	basic	processed_transcript	FAM205B	HGNC	pseudogene	OTTHUMT00000052246.5		0.00	40	0	G	NR_024481		34834839	-1			no_errors	ENST00000455647	ensembl	human	known	74_37	rna	13.04	40	6	SNP	0.020	A
FAM20B	9917	genome.wustl.edu	37	1	179019499	179019499	+	Splice_Site	SNP	A	A	C			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:179019499A>C	ENST00000263733.4	+	3	799	c.463A>C	c.(463-465)Agg>Cgg	p.R155R		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	155						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						TCACTTGGACAGGTGCGTATG	0.453																																																	0													202.0	163.0	176.0					1																	179019499		2203	4300	6503	SO:0001630	splice_region_variant	0			AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"""glycosaminoglycan xylosylkinase"""	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.464+1A>C	1.37:g.179019499A>C			Q5W0C3|Q5W0C4	Silent	SNP	pfam_DUF1193	p.R155	ENST00000263733.4	37	c.463	CCDS1328.1	1																																																																																			FAM20B	-	NULL	ENSG00000116199		0.453	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM20B	HGNC	protein_coding	OTTHUMT00000084922.1	-	0.00	81	0	A	NM_014864	Silent	179019499	+1	tier1	-	no_errors	ENST00000263733	ensembl	human	known	74_37	silent	5.88	64	4	SNP	1.000	C
FAM47A	158724	genome.wustl.edu	37	X	34149759	34149759	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chrX:34149759G>T	ENST00000346193.3	-	1	688	c.637C>A	c.(637-639)Ccg>Acg	p.P213T		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	213	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGAGGCTCCGGGCTTAGATGG	0.632																																																	0													38.0	41.0	40.0					X																	34149759		2200	4297	6497	SO:0001583	missense	0			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.637C>A	X.37:g.34149759G>T	ENSP00000345029:p.Pro213Thr		A8K8I9|Q8TAA0	Missense_Mutation	SNP	NULL	p.P213T	ENST00000346193.3	37	c.637	CCDS43926.1	X	.	.	.	.	.	.	.	.	.	.	G	8.037	0.762957	0.15914	.	.	ENSG00000185448	ENST00000346193	T	0.22539	1.95	0.235	0.235	0.15431	.	.	.	.	.	T	0.33904	0.0879	L	0.48642	1.525	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.11446	-1.0587	8	0.59425	D	0.04	.	.	.	.	.	213	Q5JRC9	FA47A_HUMAN	T	213	ENSP00000345029:P213T	ENSP00000345029:P213T	P	-	1	0	FAM47A	34059680	0.420000	0.25457	0.002000	0.10522	0.002000	0.02628	0.748000	0.26305	0.288000	0.22398	0.292000	0.19580	CCG	FAM47A	-	NULL	ENSG00000185448		0.632	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	HGNC	protein_coding	OTTHUMT00000056205.1	-	0.00	86	0	G	NM_203408		34149759	-1	tier1	-	no_errors	ENST00000346193	ensembl	human	known	74_37	missense	5.56	85	5	SNP	0.046	T
FAM65B	9750	genome.wustl.edu	37	6	24843674	24843674	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr6:24843674G>T	ENST00000259698.4	-	14	1511	c.1336C>A	c.(1336-1338)Cac>Aac	p.H446N	FAM65B_ENST00000538035.1_Missense_Mutation_p.H425N|FAM65B_ENST00000510784.2_Missense_Mutation_p.H430N|FAM65B_ENST00000540914.1_Missense_Mutation_p.H396N|FAM65B_ENST00000378023.4_Missense_Mutation_p.H396N|FAM65B_ENST00000473070.1_5'Flank	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	446					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						CCTGTTGAGTGGGAGGTGAGG	0.537																																																	0													80.0	81.0	81.0					6																	24843674		2002	4163	6165	SO:0001583	missense	0			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.1336C>A	6.37:g.24843674G>T	ENSP00000259698:p.His446Asn		A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.H446N	ENST00000259698.4	37	c.1336	CCDS47383.1	6	.	.	.	.	.	.	.	.	.	.	G	9.296	1.051750	0.19827	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	4.79	-2.42	0.06542	.	0.804958	0.11968	N	0.512055	T	0.02767	0.0083	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.43686	-0.9376	10	0.18276	T	0.48	-0.299	5.2554	0.15544	0.0:0.2386:0.2749:0.4864	.	430;425;396;446	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	N	446;425;396;396;430	ENSP00000259698:H446N;ENSP00000441138:H425N;ENSP00000367262:H396N;ENSP00000438425:H396N;ENSP00000441305:H430N	ENSP00000259698:H446N	H	-	1	0	FAM65B	24951653	0.032000	0.19561	0.000000	0.03702	0.307000	0.27823	0.220000	0.17660	-0.781000	0.04548	0.313000	0.20887	CAC	FAM65B	-	NULL	ENSG00000111913		0.537	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM65B	HGNC	protein_coding	OTTHUMT00000040024.2	-	0.00	81	0	G			24843674	-1	tier1	-	no_errors	ENST00000259698	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.003	T
FAM90A1	55138	genome.wustl.edu	37	12	8376138	8376138	+	Silent	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr12:8376138C>T	ENST00000538603.1	-	6	897	c.339G>A	c.(337-339)caG>caA	p.Q113Q	FAM90A1_ENST00000307435.6_Silent_p.Q113Q	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	113							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GAGCCTTCCTCTGCGGGTCTT	0.557																																																	0													37.0	35.0	36.0					12																	8376138		2203	4298	6501	SO:0001819	synonymous_variant	0			AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.339G>A	12.37:g.8376138C>T			D3DUU9|Q9NVZ6	Silent	SNP	NULL	p.Q113	ENST00000538603.1	37	c.339	CCDS31738.1	12																																																																																			FAM90A1	-	NULL	ENSG00000171847		0.557	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM90A1	HGNC	protein_coding	OTTHUMT00000400468.1	-	0.00	206	0	C	NM_018088		8376138	-1	tier1	-	no_errors	ENST00000307435	ensembl	human	known	74_37	silent	47.43	92	83	SNP	0.000	T
FASN	2194	genome.wustl.edu	37	17	80038423	80038423	+	Silent	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr17:80038423G>A	ENST00000306749.2	-	40	7088	c.6870C>T	c.(6868-6870)atC>atT	p.I2290I	FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2290	Thioesterase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	TGATGCAGTCGATGTAGTAGG	0.677																																					Colon(59;314 1043 11189 28578 32273)												0													18.0	17.0	17.0					17																	80038423		2162	4258	6420	SO:0001819	synonymous_variant	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.6870C>T	17.37:g.80038423G>A			Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.I2290	ENST00000306749.2	37	c.6870	CCDS11801.1	17																																																																																			FASN	-	pfam_Thioesterase	ENSG00000169710		0.677	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	-	0.00	37	0	G	NM_004104		80038423	-1	tier1	-	no_errors	ENST00000306749	ensembl	human	known	74_37	silent	11.43	31	4	SNP	0.027	A
FBXO43	286151	genome.wustl.edu	37	8	101152954	101152954	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr8:101152954G>A	ENST00000428847.2	-	2	1844	c.1528C>T	c.(1528-1530)Ctt>Ttt	p.L510F		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	510	F-box.				meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			ACCATAGCAAGAATATGCTTT	0.328																																																	0													68.0	65.0	66.0					8																	101152954		1806	4075	5881	SO:0001583	missense	0			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1528C>T	8.37:g.101152954G>A	ENSP00000403293:p.Leu510Phe			Missense_Mutation	SNP	pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC	p.L510F	ENST00000428847.2	37	c.1528	CCDS47904.1	8	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684584	0.68157	.	.	ENSG00000156509	ENST00000428847	T	0.62105	0.05	4.86	4.86	0.63082	.	0.070636	0.56097	D	0.000040	T	0.77968	0.4210	M	0.79258	2.445	0.51767	D	0.99993	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.976	T	0.80739	-0.1248	10	0.72032	D	0.01	-12.0621	13.3503	0.60597	0.0:0.0:0.8422:0.1577	.	476;510	C9J908;Q4G163	.;FBX43_HUMAN	F	510	ENSP00000403293:L510F	ENSP00000403293:L510F	L	-	1	0	FBXO43	101222130	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.889000	0.56212	2.398000	0.81561	0.655000	0.94253	CTT	FBXO43	-	superfamily_F-box_dom	ENSG00000156509		0.328	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO43	HGNC	protein_coding	OTTHUMT00000380380.1		0.00	47	0	G	XM_209918		101152954	-1			no_errors	ENST00000428847	ensembl	human	known	74_37	missense	5.26	53	3	SNP	1.000	A
FGD6	55785	genome.wustl.edu	37	12	95478413	95478413	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr12:95478413C>T	ENST00000343958.4	-	20	4340	c.4117G>A	c.(4117-4119)Gct>Act	p.A1373T		NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1373	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						CTCTCCAAAGCGGCCACGTCC	0.313																																																	0													66.0	70.0	68.0					12																	95478413		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.4117G>A	12.37:g.95478413C>T	ENSP00000344446:p.Ala1373Thr		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.A1373T	ENST00000343958.4	37	c.4117	CCDS31878.1	12	.	.	.	.	.	.	.	.	.	.	C	30	5.054735	0.93793	.	.	ENSG00000180263	ENST00000343958	T	0.13420	2.59	4.98	4.98	0.66077	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.44902	D	0.000412	T	0.45316	0.1336	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55237	-0.8172	10	0.87932	D	0	-14.8836	18.2654	0.90051	0.0:1.0:0.0:0.0	.	1373	Q6ZV73	FGD6_HUMAN	T	1373	ENSP00000344446:A1373T	ENSP00000344446:A1373T	A	-	1	0	FGD6	94002544	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.487000	0.81328	2.295000	0.77249	0.491000	0.48974	GCT	FGD6	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000180263		0.313	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD6	HGNC	protein_coding	OTTHUMT00000407600.1	-	0.00	61	0	C	NM_018351		95478413	-1	tier1	-	no_errors	ENST00000343958	ensembl	human	known	74_37	missense	27.42	45	17	SNP	1.000	T
FOXJ1	2302	genome.wustl.edu	37	17	74133965	74133965	+	Silent	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr17:74133965G>A	ENST00000322957.6	-	3	1089	c.735C>T	c.(733-735)acC>acT	p.T245T	RNF157-AS1_ENST00000585542.1_RNA|RNF157-AS1_ENST00000590137.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	245					actin cytoskeleton organization (GO:0030036)|activation of Rho GTPase activity (GO:0032862)|brain development (GO:0007420)|central tolerance induction (GO:0002508)|cilium assembly (GO:0042384)|epithelium development (GO:0060429)|establishment of apical/basal cell polarity (GO:0035089)|glomerular parietal epithelial cell development (GO:0072016)|humoral immune response (GO:0006959)|left/right pattern formation (GO:0060972)|leukocyte migration (GO:0050900)|lung epithelium development (GO:0060428)|metanephric part of ureteric bud development (GO:0035502)|negative regulation of B cell activation (GO:0050869)|negative regulation of germinal center formation (GO:0002635)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pattern specification process (GO:0007389)|positive regulation of central B cell tolerance induction (GO:0002897)|positive regulation of lung ciliated cell differentiation (GO:1901248)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GCTGGGCCTCGGTATTCACCG	0.736																																																	0													4.0	6.0	5.0					17																	74133965		2059	4049	6108	SO:0001819	synonymous_variant	0			X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654		"""Forkhead boxes"""	3816	protein-coding gene	gene with protein product		602291		FKHL13		9073514, 16518568	Standard	NM_001454		Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.735C>T	17.37:g.74133965G>A			O00630	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.T245	ENST00000322957.6	37	c.735	CCDS32739.1	17																																																																																			FOXJ1	-	NULL	ENSG00000129654		0.736	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXJ1	HGNC	protein_coding	OTTHUMT00000449856.1	-	0.00	34	0	G	NM_001454		74133965	-1	tier1	-	no_errors	ENST00000322957	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.064	A
FOXK2	3607	genome.wustl.edu	37	17	80559253	80559253	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr17:80559253G>A	ENST00000335255.5	+	9	2035	c.1861G>A	c.(1861-1863)Ggt>Agt	p.G621S	FOXK2_ENST00000529652.1_3'UTR|RP13-638C3.4_ENST00000576912.1_RNA	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	621					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			GCGCCACAACGGTGACCAGCC	0.627																																																	0													71.0	63.0	66.0					17																	80559253		2203	4300	6503	SO:0001583	missense	0			U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"""Forkhead boxes"""	6036	protein-coding gene	gene with protein product		147685	"""interleukin enhancer binding factor 1"""	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.1861G>A	17.37:g.80559253G>A	ENSP00000335677:p.Gly621Ser		A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head	p.G621S	ENST00000335255.5	37	c.1861	CCDS11813.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.35|14.35	2.510371|2.510371	0.44660|0.44660	.|.	.|.	ENSG00000141568|ENSG00000141568	ENST00000335255|ENST00000335241	D|.	0.94687|.	-3.49|.	4.97|4.97	3.98|3.98	0.46160|0.46160	.|.	0.167273|.	0.52532|.	D|.	0.000078|.	T|T	0.69024|0.69024	0.3065|0.3065	L|L	0.50333|0.50333	1.59|1.59	0.49483|0.49483	D|D	0.999798|0.999798	D|.	0.58268|.	0.982|.	B|.	0.43916|.	0.436|.	T|T	0.73723|0.73723	-0.3893|-0.3893	10|6	0.37606|0.87932	T|D	0.19|0	.|.	15.6436|15.6436	0.77029|0.77029	0.0:0.1379:0.8621:0.0|0.0:0.1379:0.8621:0.0	.|.	621|.	Q01167|.	FOXK2_HUMAN|.	S|Q	621|328	ENSP00000335677:G621S|.	ENSP00000335677:G621S|ENSP00000334321:R328Q	G|R	+|+	1|2	0|0	FOXK2|FOXK2	78152542|78152542	1.000000|1.000000	0.71417|0.71417	0.007000|0.007000	0.13788|0.13788	0.006000|0.006000	0.05464|0.05464	8.646000|8.646000	0.91053|0.91053	1.422000|1.422000	0.47177|0.47177	0.655000|0.655000	0.94253|0.94253	GGT|CGG	FOXK2	-	NULL	ENSG00000141568		0.627	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXK2	HGNC	protein_coding	OTTHUMT00000277099.2	-	0.00	43	0	G	NM_181430		80559253	+1	tier1	-	no_errors	ENST00000335255	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.996	A
FPR2	2358	genome.wustl.edu	37	19	52272212	52272212	+	Missense_Mutation	SNP	A	A	G			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:52272212A>G	ENST00000598776.1	+	2	1073	c.301A>G	c.(301-303)Att>Gtt	p.I101V	FPR2_ENST00000598953.1_Missense_Mutation_p.I101V|FPR2_ENST00000340023.6_Missense_Mutation_p.I101V	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	101					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GTGTAAGTTAATTCACATCGT	0.493																																																	0													173.0	149.0	157.0					19																	52272212		2203	4300	6503	SO:0001583	missense	0			M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.301A>G	19.37:g.52272212A>G	ENSP00000468897:p.Ile101Val		A8K3E2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_DEZorph_rcpt	p.I101V	ENST00000598776.1	37	c.301	CCDS12840.1	19	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.727983	0.00694	.	.	ENSG00000171049	ENST00000340023	T	0.35605	1.3	3.61	-6.3	0.02007	GPCR, rhodopsin-like superfamily (1);	0.595996	0.15540	N	0.257023	T	0.06462	0.0166	N	0.00510	-1.415	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.21348	-1.0248	10	0.02654	T	1	.	7.4562	0.27268	0.3733:0.1311:0.4955:0.0	.	101	P25090	FPR2_HUMAN	V	101	ENSP00000340191:I101V	ENSP00000340191:I101V	I	+	1	0	FPR2	56964024	0.247000	0.23920	0.000000	0.03702	0.568000	0.35870	0.526000	0.22971	-1.718000	0.01383	-0.415000	0.06103	ATT	FPR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt	ENSG00000171049		0.493	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FPR2	HGNC	protein_coding	OTTHUMT00000466912.2	-	0.00	72	0	A	NM_001005738		52272212	+1	tier1	-	no_errors	ENST00000340023	ensembl	human	known	74_37	missense	30.88	47	21	SNP	0.005	G
FPR2	2358	genome.wustl.edu	37	19	52272818	52272818	+	Missense_Mutation	SNP	G	G	A	rs373596683		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:52272818G>A	ENST00000598776.1	+	2	1679	c.907G>A	c.(907-909)Gtc>Atc	p.V303I	FPR2_ENST00000598953.1_Missense_Mutation_p.V303I|FPR2_ENST00000340023.6_Missense_Mutation_p.V303I	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	303					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CATGCTTTACGTCTTTGTGGG	0.532																																																	0								G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	116.0	107.0	110.0		907,907	2.9	0.5	19		110	1,8599		0,1,4299	no	missense,missense	FPR2	NM_001005738.1,NM_001462.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	303/352,303/352	52272818	1,13005	2203	4300	6503	SO:0001583	missense	0			M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.907G>A	19.37:g.52272818G>A	ENSP00000468897:p.Val303Ile		A8K3E2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_DEZorph_rcpt	p.V303I	ENST00000598776.1	37	c.907	CCDS12840.1	19	.	.	.	.	.	.	.	.	.	.	.	17.54	3.415399	0.62511	0.0	1.16E-4	ENSG00000171049	ENST00000340023	T	0.15139	2.45	3.96	2.9	0.33743	.	0.078226	0.52532	U	0.000070	T	0.38268	0.1034	M	0.85373	2.75	0.37032	D	0.896741	D	0.62365	0.991	P	0.58391	0.838	T	0.53641	-0.8410	10	0.87932	D	0	.	11.018	0.47701	0.0:0.0:0.8129:0.1871	.	303	P25090	FPR2_HUMAN	I	303	ENSP00000340191:V303I	ENSP00000340191:V303I	V	+	1	0	FPR2	56964630	1.000000	0.71417	0.511000	0.27724	0.249000	0.25844	5.805000	0.69143	1.005000	0.39183	0.484000	0.47621	GTC	FPR2	-	prints_GPCR_Rhodpsn,prints_Anphylx_rcpt	ENSG00000171049		0.532	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FPR2	HGNC	protein_coding	OTTHUMT00000466912.2	-	0.00	33	0	G	NM_001005738		52272818	+1	tier1	-	no_errors	ENST00000340023	ensembl	human	known	74_37	missense	61.90	8	13	SNP	1.000	A
GBA2	57704	genome.wustl.edu	37	9	35737861	35737861	+	Frame_Shift_Del	DEL	C	C	-			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr9:35737861delC	ENST00000378103.3	-	16	2912	c.2389delG	c.(2389-2391)gccfs	p.A797fs	GBA2_ENST00000545786.1_Frame_Shift_Del_p.A803fs|GBA2_ENST00000378088.1_Frame_Shift_Del_p.A98fs|GBA2_ENST00000378094.4_Frame_Shift_Del_p.A797fs|GBA2_ENST00000467252.1_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	797					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)			GCCCCCATGGCCCCTCCTGCA	0.577																																																	0													72.0	68.0	69.0					9																	35737861		2203	4300	6503	SO:0001589	frameshift_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	ENST00000378103.3:c.2389delG	9.37:g.35737861delC	ENSP00000367343:p.Ala797fs		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Frame_Shift_Del	DEL	pfam_Glucosylceramidase,pfam_GBA2_N,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type	p.A803fs	ENST00000378103.3	37	c.2407	CCDS6589.1	9																																																																																			GBA2	-	pfam_Glucosylceramidase,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type	ENSG00000070610		0.577	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GBA2	HGNC	protein_coding	OTTHUMT00000055456.1		0.00	38	0	C	NM_020944		35737861	-1	tier1		no_errors	ENST00000545786	ensembl	human	known	74_37	frame_shift_del	6.90	27	2	DEL	0.206	-
GLRB	2743	genome.wustl.edu	37	4	158041816	158041816	+	Splice_Site	SNP	T	T	C			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr4:158041816T>C	ENST00000264428.4	+	3	499		c.e3+2		GLRB_ENST00000509282.1_Splice_Site|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Splice_Site	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta						acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	ACTTCAAAGGTTTGTCTCCCC	0.338																																																	0													76.0	77.0	77.0					4																	158041816		2203	4300	6503	SO:0001630	splice_region_variant	0			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.229+2T>C	4.37:g.158041816T>C			A8K3K2|D3DP23|F5GWE1	Splice_Site	SNP	-	e2+2	ENST00000264428.4	37	c.229+2	CCDS3796.1	4	.	.	.	.	.	.	.	.	.	.	T	19.41	3.822961	0.71028	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7832	0.78281	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLRB	158261266	1.000000	0.71417	0.966000	0.40874	0.952000	0.60782	3.758000	0.55220	2.194000	0.70268	0.397000	0.26171	.	GLRB	-	-	ENSG00000109738		0.338	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRB	HGNC	protein_coding	OTTHUMT00000366507.1	-	0.00	41	0	T	NM_000824	Intron	158041816	+1	tier1	-	no_errors	ENST00000264428	ensembl	human	known	74_37	splice_site	8.51	43	4	SNP	1.000	C
GNAS	2778	genome.wustl.edu	37	20	57428515	57428515	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr20:57428515C>T	ENST00000306120.3	+	1	5	c.5C>T	c.(4-6)gCg>gTg	p.A2V	GNAS_ENST00000371099.2_Silent_p.G65G|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371102.4_Silent_p.G65G|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371100.4_Silent_p.G65G|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371098.2_Intron			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGAATGATGGCGAGGCCTGTG	0.652			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	0													21.0	24.0	23.0					20																	57428515		1891	4115	6006	SO:0001583	missense	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000306120.3:c.5C>T	20.37:g.57428515C>T	ENSP00000302237:p.Ala2Val		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	NULL	p.A2V	ENST00000306120.3	37	c.5		20	.	.	.	.	.	.	.	.	.	.	C	6.645	0.487499	0.12641	.	.	ENSG00000087460	ENST00000306120	.	.	.	4.55	1.26	0.21427	.	.	.	.	.	T	0.09423	0.0232	.	.	.	0.22066	N	0.999384	.	.	.	.	.	.	T	0.35574	-0.9783	5	0.02654	T	1	.	3.1745	0.06564	0.1796:0.5449:0.1744:0.1011	.	.	.	.	V	2	.	ENSP00000302237:A2V	A	+	2	0	GNAS	56861910	0.000000	0.05858	0.055000	0.19348	0.010000	0.07245	-1.202000	0.03023	0.168000	0.19655	0.557000	0.71058	GCG	GNAS	-	NULL	ENSG00000087460		0.652	GNAS-050	PUTATIVE	basic	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000267987.1		0.00	47	0	C	NM_000516		57428515	+1			no_errors	ENST00000306120	ensembl	human	putative	74_37	missense	6.90	27	2	SNP	0.234	T
GPR12	2835	genome.wustl.edu	37	13	27333515	27333515	+	Silent	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr13:27333515C>T	ENST00000381436.2	-	1	912	c.450G>A	c.(448-450)tcG>tcA	p.S150S	GPR12_ENST00000405846.3_Silent_p.S150S			P47775	GPR12_HUMAN	G protein-coupled receptor 12	150					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CCGTCCTCTCCGAATGGTACG	0.582																																																	0													94.0	77.0	83.0					13																	27333515		2203	4300	6503	SO:0001819	synonymous_variant	0			U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.450G>A	13.37:g.27333515C>T			Q5T8P3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan,prints_GPR12,prints_GPCR_Rhodpsn	p.S150	ENST00000381436.2	37	c.450	CCDS9319.1	13																																																																																			GPR12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan	ENSG00000132975		0.582	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR12	HGNC	protein_coding	OTTHUMT00000044257.2	-	0.00	24	0	C			27333515	-1	tier1	-	no_errors	ENST00000381436	ensembl	human	known	74_37	silent	57.14	6	8	SNP	0.820	T
GPR158	57512	genome.wustl.edu	37	10	25464572	25464572	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:25464572G>T	ENST00000376351.3	+	1	582	c.223G>T	c.(223-225)Gcc>Tcc	p.A75S	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	75					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCAGAAACTCGCCGAGGAGGT	0.687																																																	0													27.0	29.0	28.0					10																	25464572		2201	4291	6492	SO:0001583	missense	0			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.223G>T	10.37:g.25464572G>T	ENSP00000365529:p.Ala75Ser		Q6QR81|Q9ULT3	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.A75S	ENST00000376351.3	37	c.223	CCDS31166.1	10	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438902	0.25900	.	.	ENSG00000151025	ENST00000376351	T	0.60424	0.19	4.59	0.0199	0.14123	.	0.097639	0.42682	N	0.000663	T	0.42108	0.1188	L	0.51422	1.61	0.28922	N	0.892089	B	0.15473	0.013	B	0.13407	0.009	T	0.18053	-1.0349	10	0.29301	T	0.29	.	3.9381	0.09314	0.1488:0.1037:0.5301:0.2175	.	75	Q5T848	GP158_HUMAN	S	75	ENSP00000365529:A75S	ENSP00000365529:A75S	A	+	1	0	GPR158	25504578	0.919000	0.31177	0.989000	0.46669	0.907000	0.53573	1.376000	0.34306	0.167000	0.19631	0.313000	0.20887	GCC	GPR158	-	NULL	ENSG00000151025		0.687	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	-	0.00	35	0	G	XM_166110		25464572	+1	tier1	-	no_errors	ENST00000376351	ensembl	human	known	74_37	missense	29.41	24	10	SNP	0.948	T
GPR158	57512	genome.wustl.edu	37	10	25464990	25464990	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:25464990C>T	ENST00000376351.3	+	1	1000	c.641C>T	c.(640-642)gCc>gTc	p.A214V	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	214					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCCCACCTGGCCAACGCCACT	0.711																																																	0													20.0	20.0	20.0					10																	25464990		2199	4298	6497	SO:0001583	missense	0			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.641C>T	10.37:g.25464990C>T	ENSP00000365529:p.Ala214Val		Q6QR81|Q9ULT3	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.A214V	ENST00000376351.3	37	c.641	CCDS31166.1	10	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949703	0.53186	.	.	ENSG00000151025	ENST00000376351	T	0.61274	0.12	5.09	4.16	0.48862	.	0.193948	0.35179	N	0.003394	T	0.51466	0.1676	L	0.47716	1.5	0.33158	D	0.546535	P	0.43352	0.804	B	0.44315	0.446	T	0.62402	-0.6862	10	0.38643	T	0.18	.	9.2962	0.37817	0.0:0.6682:0.2556:0.0761	.	214	Q5T848	GP158_HUMAN	V	214	ENSP00000365529:A214V	ENSP00000365529:A214V	A	+	2	0	GPR158	25504996	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.461000	0.45040	2.650000	0.89964	0.655000	0.94253	GCC	GPR158	-	NULL	ENSG00000151025		0.711	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	-	0.00	70	0	C	XM_166110		25464990	+1	tier1	-	no_errors	ENST00000376351	ensembl	human	known	74_37	missense	5.10	93	5	SNP	1.000	T
GPR37L1	9283	genome.wustl.edu	37	1	202097550	202097550	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:202097550G>T	ENST00000367282.5	+	2	1418	c.1312G>T	c.(1312-1314)Gag>Tag	p.E438*		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	438	Cys-rich.				negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						ctgctgTGAGGAGTGCGGCGG	0.627																																																	0													35.0	37.0	36.0					1																	202097550		2203	4300	6503	SO:0001587	stop_gained	0			AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.1312G>T	1.37:g.202097550G>T	ENSP00000356251:p.Glu438*		B2R7M9|Q5SXP7|Q86VP7	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn	p.E438*	ENST00000367282.5	37	c.1312	CCDS1420.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356460	0.82243	.	.	ENSG00000170075	ENST00000541334;ENST00000367282	.	.	.	5.18	4.24	0.50183	.	0.526148	0.14602	N	0.309573	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-4.4493	15.0148	0.71576	0.0:0.1766:0.8234:0.0	.	.	.	.	X	305;438	.	ENSP00000356251:E438X	E	+	1	0	GPR37L1	200364173	1.000000	0.71417	0.036000	0.18154	0.373000	0.29922	2.573000	0.46007	1.090000	0.41315	0.561000	0.74099	GAG	GPR37L1	-	NULL	ENSG00000170075		0.627	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR37L1	HGNC	protein_coding	OTTHUMT00000087496.2	-	0.00	55	0	G	NM_004767		202097550	+1	tier1	-	no_errors	ENST00000367282	ensembl	human	known	74_37	nonsense	11.11	32	4	SNP	0.554	T
GRM8	2918	genome.wustl.edu	37	7	126173579	126173579	+	Silent	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr7:126173579G>A	ENST00000339582.2	-	9	2665	c.1857C>T	c.(1855-1857)cgC>cgT	p.R619R	GRM8_ENST00000444921.2_Silent_p.R619R|GRM8_ENST00000358373.3_Silent_p.R619R|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	619					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.R619R(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AACTAAGTTCGCGTCCTGAAG	0.458										HNSCC(24;0.065)																																							1	Substitution - coding silent(1)	large_intestine(1)											114.0	110.0	112.0					7																	126173579		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1857C>T	7.37:g.126173579G>A			A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C	p.R619	ENST00000339582.2	37	c.1857	CCDS5794.1	7																																																																																			GRM8	-	pfam_GPCR_3_C,prints_GPCR_3,pfscan_GPCR_3_C	ENSG00000179603		0.458	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4		0.00	25	0	G			126173579	-1			no_errors	ENST00000339582	ensembl	human	known	74_37	silent	28.57	10	4	SNP	0.050	A
GSTK1	373156	genome.wustl.edu	37	7	142962173	142962173	+	Silent	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr7:142962173C>T	ENST00000358406.5	+	4	443	c.372C>T	c.(370-372)cgC>cgT	p.R124R	AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000443571.2_Silent_p.R81R|GSTK1_ENST00000479303.1_Silent_p.R124R|GSTK1_ENST00000409500.3_Silent_p.R124R	NM_015917.2	NP_057001.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	124					epithelial cell differentiation (GO:0030855)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|peroxisome (GO:0005777)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|protein disulfide oxidoreductase activity (GO:0015035)|receptor binding (GO:0005102)			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	TGTGGATGCGCGTCTGGTCAA	0.582																																																	0													108.0	113.0	111.0					7																	142962173		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5877.1, CCDS47730.1, CCDS47731.1, CCDS47732.1	7q34	2012-06-21			ENSG00000197448	ENSG00000197448	2.5.1.18	"""Glutathione S-transferases / Mitochondrial (kappa)"""	16906	protein-coding gene	gene with protein product		602321				12720545, 14742434	Standard	NM_015917		Approved	GST13	uc003wcj.3	Q9Y2Q3	OTTHUMG00000152637	ENST00000358406.5:c.372C>T	7.37:g.142962173C>T			B4DIH1|B4DSY2|Q6P4H0|Q7Z520|Q9P1S4	Silent	SNP	pfam_DSBA-like_thioredoxin_dom,superfamily_Thioredoxin-like_fold	p.R124	ENST00000358406.5	37	c.372	CCDS5877.1	7																																																																																			GSTK1	-	pfam_DSBA-like_thioredoxin_dom,superfamily_Thioredoxin-like_fold	ENSG00000197448		0.582	GSTK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTK1	HGNC	protein_coding	OTTHUMT00000327091.1	-	0.00	44	0	C	NM_015917		142962173	+1	tier1	-	no_errors	ENST00000479303	ensembl	human	known	74_37	silent	26.09	34	12	SNP	0.008	T
HECW2	57520	genome.wustl.edu	37	2	197189751	197189751	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:197189751G>A	ENST00000260983.3	-	6	876	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	HECW2_ENST00000409111.1_De_novo_Start_OutOfFrame	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	232	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATAGTAGACCGTCTCTCCTGC	0.507																																																	0													273.0	244.0	254.0					2																	197189751		2203	4300	6503	SO:0001583	missense	0			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.694C>T	2.37:g.197189751G>A	ENSP00000260983:p.Arg232Trp		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.R232W	ENST00000260983.3	37	c.694	CCDS33354.1	2	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527111	0.44969	.	.	ENSG00000138411	ENST00000260983	T	0.73681	-0.77	5.2	1.38	0.22167	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.116668	0.56097	D	0.000031	D	0.84311	0.5444	M	0.73962	2.25	0.49299	D	0.999778	D	0.89917	1.0	D	0.97110	1.0	D	0.84866	0.0822	10	0.87932	D	0	.	14.1855	0.65603	0.0:0.0:0.5161:0.4839	.	232	Q9P2P5	HECW2_HUMAN	W	232	ENSP00000260983:R232W	ENSP00000260983:R232W	R	-	1	2	HECW2	196897996	1.000000	0.71417	0.981000	0.43875	0.263000	0.26337	2.011000	0.40922	0.078000	0.16900	-1.014000	0.02459	CGG	HECW2	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000138411		0.507	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3		0.00	18	0	G	NM_020760		197189751	-1			no_errors	ENST00000260983	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.998	A
HEG1	57493	genome.wustl.edu	37	3	124692645	124692645	+	Missense_Mutation	SNP	C	C	T	rs375137864		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:124692645C>T	ENST00000311127.4	-	16	3993	c.3926G>A	c.(3925-3927)cGa>cAa	p.R1309Q		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1309					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						AATAGCTTCTCGGCCCCATTC	0.438																																																	0								C	GLN/ARG	0,3740		0,0,1870	118.0	116.0	117.0		3926	5.0	1.0	3		117	1,8203		0,1,4101	no	missense	HEG1	NM_020733.1	43	0,1,5971	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	1309/1382	124692645	1,11943	1870	4102	5972	SO:0001583	missense	0			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.3926G>A	3.37:g.124692645C>T	ENSP00000311502:p.Arg1309Gln		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.R1309Q	ENST00000311127.4	37	c.3926	CCDS46898.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.441701	0.96187	0.0	1.22E-4	ENSG00000173706	ENST00000311127;ENST00000487661	D;T	0.92348	-3.02;0.72	4.97	4.97	0.65823	.	0.000000	0.32273	U	0.006332	D	0.93106	0.7805	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.94365	0.7591	10	0.87932	D	0	.	18.4352	0.90643	0.0:1.0:0.0:0.0	.	1309	Q9ULI3	HEG1_HUMAN	Q	1309;193	ENSP00000311502:R1309Q;ENSP00000417648:R193Q	ENSP00000311502:R1309Q	R	-	2	0	HEG1	126175335	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.273000	0.78527	2.577000	0.86979	0.655000	0.94253	CGA	HEG1	-	NULL	ENSG00000173706		0.438	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2	-	0.00	66	0	C	XM_087386		124692645	-1	tier1	-	no_errors	ENST00000311127	ensembl	human	known	74_37	missense	8.51	41	4	SNP	1.000	T
HIST4H4	121504	genome.wustl.edu	37	12	14923992	14923992	+	Silent	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr12:14923992C>T	ENST00000539745.1	-	1	73	c.27G>A	c.(25-27)aaG>aaA	p.K9K	HIST4H4_ENST00000541592.1_5'Flank	NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	9					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						TACCCAGCCCCTTGCCACCTT	0.602																																																	0													45.0	52.0	49.0					12																	14923992		2203	4300	6503	SO:0001819	synonymous_variant	0			AY128653	CCDS8665.1	12p12.3	2011-01-27	2006-10-11			ENSG00000197837		"""Histones / Replication-dependent"""	20510	protein-coding gene	gene with protein product		615069	"""histone 4, H4"""			12408966	Standard	NM_175054		Approved	MGC24116	uc001rcf.4	P62805		ENST00000539745.1:c.27G>A	12.37:g.14923992C>T			A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.K9	ENST00000539745.1	37	c.27	CCDS8665.1	12																																																																																			HIST4H4	-	superfamily_Histone-fold,prints_Histone_H4	ENSG00000197837		0.602	HIST4H4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST4H4	HGNC	protein_coding	OTTHUMT00000400844.1		0.00	45	0	C	NM_175054		14923992	-1			no_errors	ENST00000358064	ensembl	human	known	74_37	silent	7.89	35	3	SNP	0.973	T
HP1BP3	50809	genome.wustl.edu	37	1	21083671	21083671	+	Silent	SNP	C	C	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:21083671C>A	ENST00000312239.5	-	9	1108	c.969G>T	c.(967-969)tcG>tcT	p.S323S	HP1BP3_ENST00000375003.2_Silent_p.S171S	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	323	H15 2. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GGAATGTCCCCGAAGCACCTT	0.438																																																	0													86.0	85.0	85.0					1																	21083671		2203	4300	6503	SO:0001819	synonymous_variant	0			BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.969G>T	1.37:g.21083671C>A			A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Silent	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15	p.S323	ENST00000312239.5	37	c.969	CCDS30621.1	1																																																																																			HP1BP3	-	pfam_Histone_H1/H5_H15	ENSG00000127483		0.438	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HP1BP3	HGNC	protein_coding	OTTHUMT00000007457.2	-	0.00	45	0	C	NM_016287		21083671	-1	tier1	-	no_errors	ENST00000312239	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.308	A
HRAS	3265	genome.wustl.edu	37	11	533535	533535	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr11:533535C>T	ENST00000451590.1	-	4	555	c.368G>A	c.(367-369)cGc>cAc	p.R123H	HRAS_ENST00000417302.1_Missense_Mutation_p.R123H|HRAS_ENST00000311189.7_Missense_Mutation_p.R123H|HRAS_ENST00000397596.2_Missense_Mutation_p.R123H|HRAS_ENST00000397594.1_Missense_Mutation_p.R123H|HRAS_ENST00000468682.2_5'Flank	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	123					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTCCACAGTGCGTGCAGCCAG	0.622		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																													yes	Dom	yes	Costello syndrome	11	11p15.5	3265	v-Ha-ras Harvey rat sarcoma viral oncogene homolog		"""E, L, M"""	0													189.0	168.0	175.0					11																	533535		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.368G>A	11.37:g.533535C>T	ENSP00000407586:p.Arg123His		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R123H	ENST00000451590.1	37	c.368	CCDS7698.1	11	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946965	0.92593	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36	3.55	3.55	0.40652	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91002	0.7170	H	0.97587	4.035	0.80722	D	1	D;D	0.67145	0.996;0.966	P;P	0.54706	0.759;0.658	D	0.94264	0.7505	10	0.72032	D	0.01	.	14.6634	0.68891	0.0:1.0:0.0:0.0	.	123;123	P01112-2;P01112	.;RASH_HUMAN	H	123	ENSP00000380722:R123H;ENSP00000380723:R123H;ENSP00000407586:R123H;ENSP00000388246:R123H;ENSP00000309845:R123H	ENSP00000309845:R123H	R	-	2	0	HRAS	523535	1.000000	0.71417	0.843000	0.33291	0.986000	0.74619	4.826000	0.62715	1.997000	0.58415	0.561000	0.74099	CGC	HRAS	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom	ENSG00000174775		0.622	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HRAS	HGNC	protein_coding	OTTHUMT00000259403.2		0.00	81	0	C	NM_176795		533535	-1			no_errors	ENST00000311189	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T
HPS5	11234	genome.wustl.edu	37	11	18313300	18313300	+	Missense_Mutation	SNP	A	A	G			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr11:18313300A>G	ENST00000349215.3	-	16	2406	c.2129T>C	c.(2128-2130)gTa>gCa	p.V710A	HPS5_ENST00000396253.3_Missense_Mutation_p.V596A|HPS5_ENST00000438420.2_Missense_Mutation_p.V596A|HPS5_ENST00000352460.3_5'UTR	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	710					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGGACTCCTTACACATTCACA	0.378									Hermansky-Pudlak syndrome																																								0													149.0	137.0	141.0					11																	18313300		2199	4293	6492	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2129T>C	11.37:g.18313300A>G	ENSP00000265967:p.Val710Ala		A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	p.V710A	ENST00000349215.3	37	c.2129	CCDS7836.1	11	.	.	.	.	.	.	.	.	.	.	A	4.851	0.158283	0.09236	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215	T;T;T	0.79141	-1.24;-1.24;-1.24	5.74	-3.14	0.05250	.	1.433190	0.03879	N	0.276898	T	0.51126	0.1656	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41822	-0.9487	10	0.07813	T	0.8	.	0.4359	0.00479	0.2333:0.1982:0.2794:0.2891	.	710	Q9UPZ3	HPS5_HUMAN	A	596;596;710	ENSP00000379552:V596A;ENSP00000399590:V596A;ENSP00000265967:V710A	ENSP00000265967:V710A	V	-	2	0	HPS5	18269876	0.000000	0.05858	0.001000	0.08648	0.318000	0.28184	0.045000	0.14013	-0.113000	0.11958	0.533000	0.62120	GTA	HPS5	-	pirsf_BLOC-2_complex_Hps5_subunit	ENSG00000110756		0.378	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	HGNC	protein_coding	OTTHUMT00000390808.1	-	0.00	35	0	A	NM_181507		18313300	-1	tier1	-	no_errors	ENST00000349215	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.000	G
IDUA	3425	genome.wustl.edu	37	4	998144	998145	+	Frame_Shift_Ins	INS	-	-	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr4:998144_998145insT	ENST00000247933.4	+	14	2013_2014	c.1925_1926insT	c.(1924-1929)cctgtgfs	p.V643fs	IDUA_ENST00000453894.1_Frame_Shift_Ins_p.V665fs|IDUA_ENST00000514224.1_Frame_Shift_Ins_p.V511fs	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	643					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTGGAGGTCCCTGTGCCAAGAG	0.668																																																	0																																										SO:0001589	frameshift_variant	0			M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.1926dupT	4.37:g.998145_998145dupT	ENSP00000247933:p.Val643fs		B3KWK6	Frame_Shift_Ins	INS	pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39	p.V665fs	ENST00000247933.4	37	c.1991_1992	CCDS3343.1	4																																																																																			IDUA	-	NULL	ENSG00000127415		0.668	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IDUA	HGNC	protein_coding	OTTHUMT00000201812.1		0.00	66	0	-	NM_000203		998145	+1	tier1		no_errors	ENST00000453894	ensembl	human	known	74_37	frame_shift_ins	9.52	19	2	INS	0.038:0.002	T
IFT140	9742	genome.wustl.edu	37	16	1576045	1576045	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr16:1576045G>T	ENST00000426508.2	-	21	2974	c.2611C>A	c.(2611-2613)Cgc>Agc	p.R871S	TMEM204_ENST00000253934.5_5'Flank|IFT140_ENST00000361339.5_Missense_Mutation_p.R65S	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	871					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				AGGTCGTGGCGCTTGCACTTC	0.627																																																	0													47.0	43.0	45.0					16																	1576045		2195	4299	6494	SO:0001583	missense	0			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2611C>A	16.37:g.1576045G>T	ENSP00000406012:p.Arg871Ser		A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R871S	ENST00000426508.2	37	c.2611	CCDS10439.1	16	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802998	0.50315	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.62364	0.03;0.03	5.03	4.06	0.47325	.	0.126400	0.52532	D	0.000075	D	0.82458	0.5041	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85397	0.1129	10	0.48119	T	0.1	.	13.4355	0.61082	0.0:0.0:0.8428:0.1572	.	871;558	Q96RY7;B4DR58	IF140_HUMAN;.	S	871;65;871	ENSP00000354895:R65S;ENSP00000406012:R871S	ENSP00000354895:R65S	R	-	1	0	IFT140	1516046	1.000000	0.71417	0.923000	0.36655	0.001000	0.01503	7.557000	0.82243	1.242000	0.43836	-0.314000	0.08810	CGC	IFT140	-	NULL	ENSG00000187535		0.627	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	-	0.00	63	0	G	NM_014714		1576045	-1	tier1	-	no_errors	ENST00000426508	ensembl	human	known	74_37	missense	38.64	27	17	SNP	0.994	T
INPP4B	8821	genome.wustl.edu	37	4	143326457	143326457	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr4:143326457G>T	ENST00000513000.1	-	7	590	c.157C>A	c.(157-159)Cct>Act	p.P53T	INPP4B_ENST00000509777.1_Missense_Mutation_p.P53T|INPP4B_ENST00000506217.1_Missense_Mutation_p.P53T|INPP4B_ENST00000262992.4_Missense_Mutation_p.P53T|INPP4B_ENST00000508116.1_Missense_Mutation_p.P53T|INPP4B_ENST00000308502.4_Missense_Mutation_p.P53T	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	53	C2.				cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.P53S(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TCACGGACAGGAGCCACGAGA	0.507																																																	1	Substitution - Missense(1)	skin(1)											101.0	89.0	93.0					4																	143326457		2203	4300	6503	SO:0001583	missense	0			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.157C>A	4.37:g.143326457G>T	ENSP00000425487:p.Pro53Thr		Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	superfamily_C2_dom	p.P53T	ENST00000513000.1	37	c.157	CCDS3757.1	4	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154635	0.57259	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116;ENST00000509777;ENST00000510812;ENST00000506217;ENST00000506788	T;T;T;T;T;T	0.33865	1.83;1.83;1.83;1.83;1.82;1.39	6.16	5.28	0.74379	C2 calcium/lipid-binding domain, CaLB (1);	0.145771	0.48767	D	0.000167	T	0.37073	0.0990	L	0.57536	1.79	0.28953	N	0.890319	B	0.30361	0.277	B	0.26864	0.074	T	0.41431	-0.9509	10	0.66056	D	0.02	.	16.2563	0.82519	0.0:0.2412:0.7588:0.0	.	53	O15327	INP4B_HUMAN	T	53	ENSP00000425487:P53T;ENSP00000262992:P53T;ENSP00000308441:P53T;ENSP00000423954:P53T;ENSP00000422793:P53T;ENSP00000427250:P53T	ENSP00000262992:P53T	P	-	1	0	INPP4B	143545907	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.057000	0.30492	2.937000	0.99478	0.650000	0.86243	CCT	INPP4B	-	superfamily_C2_dom	ENSG00000109452		0.507	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP4B	HGNC	protein_coding	OTTHUMT00000364587.1		0.00	16	0	G	NM_003866		143326457	-1			no_errors	ENST00000509777	ensembl	human	known	74_37	missense	14.29	12	2	SNP	1.000	T
INSRR	3645	genome.wustl.edu	37	1	156819062	156819062	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:156819062G>A	ENST00000368195.3	-	6	1816	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	474					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R474C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGTTGGTGCGGGGGTTGATC	0.647																																																	1	Substitution - Missense(1)	breast(1)											99.0	100.0	100.0					1																	156819062		2203	4300	6503	SO:0001583	missense	0			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1420C>T	1.37:g.156819062G>A	ENSP00000357178:p.Arg474Cys		O60724|Q5VZS3	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.R474C	ENST00000368195.3	37	c.1420	CCDS1160.1	1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340642	0.81911	.	.	ENSG00000027644	ENST00000368195	D	0.83075	-1.68	4.75	4.75	0.60458	.	0.000000	0.47852	D	0.000213	D	0.90038	0.6889	.	.	.	0.50813	D	0.999896	D	0.89917	1.0	D	0.91635	0.999	D	0.91134	0.4940	9	0.72032	D	0.01	.	16.4887	0.84193	0.0:0.0:1.0:0.0	.	474	P14616	INSRR_HUMAN	C	474	ENSP00000357178:R474C	ENSP00000357178:R474C	R	-	1	0	INSRR	155085686	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.136000	0.50554	2.490000	0.84030	0.561000	0.74099	CGC	INSRR	-	pirsf_Tyr_kinase_insulin-like_rcpt	ENSG00000027644		0.647	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSRR	HGNC	protein_coding	OTTHUMT00000098929.1		0.00	65	0	G	NM_014215		156819062	-1			no_errors	ENST00000368195	ensembl	human	known	74_37	missense	9.09	30	3	SNP	0.970	A
IRAK1	3654	genome.wustl.edu	37	X	153282028	153282028	+	Missense_Mutation	SNP	G	G	A	rs143993525	byFrequency	TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chrX:153282028G>A	ENST00000369980.3	-	9	1263	c.1096C>T	c.(1096-1098)Cgc>Tgc	p.R366C	IRAK1_ENST00000429936.2_Missense_Mutation_p.R392C|IRAK1_ENST00000369974.2_Missense_Mutation_p.R366C|IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000393687.2_Missense_Mutation_p.R366C|IRAK1_ENST00000393682.1_Missense_Mutation_p.R392C	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	366	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGGCAAAGCGGCTGAACCGG	0.647																																																	0								G	CYS/ARG,CYS/ARG,CYS/ARG	0,3835		0,0,0,1632,571	40.0	40.0	40.0		1096,1096,1096	4.8	1.0	X	dbSNP_134	40	5,6723		0,4,1,2424,1871	yes	missense,missense,missense	IRAK1	NM_001025242.1,NM_001025243.1,NM_001569.3	180,180,180	0,4,1,4056,2442	AA,AG,A,GG,G		0.0743,0.0,0.0473	probably-damaging,probably-damaging,probably-damaging	366/683,366/634,366/713	153282028	5,10558	2203	4300	6503	SO:0001583	missense	0			L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1096C>T	X.37:g.153282028G>A	ENSP00000358997:p.Arg366Cys		D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R366C	ENST00000369980.3	37	c.1096	CCDS14740.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	19.41|19.41	3.821616|3.821616	0.71028|0.71028	0.0|0.0	7.43E-4|7.43E-4	ENSG00000184216|ENSG00000184216	ENST00000443220|ENST00000369980;ENST00000369974;ENST00000393682;ENST00000393687;ENST00000429936	.|T;D;D;T;T	.|0.93604	.|1.33;-3.25;-3.25;1.33;1.33	4.85|4.85	4.85|4.85	0.62838|0.62838	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.52532	.|D	.|0.000064	D|D	0.95137|0.95137	0.8424|0.8424	L|L	0.48642|0.48642	1.525|1.525	0.54753|0.54753	D|D	0.999988|0.999988	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.74674	.|0.93;0.984;0.972	D|D	0.95748|0.95748	0.8789|0.8789	5|10	.|0.72032	.|D	.|0.01	-24.8586|-24.8586	15.9129|15.9129	0.79485|0.79485	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|366;366;366	.|P51617-4;P51617;P51617-2	.|.;IRAK1_HUMAN;.	L|C	136|366;366;392;366;392	.|ENSP00000358997:R366C;ENSP00000358991:R366C;ENSP00000377287:R392C;ENSP00000377291:R366C;ENSP00000392662:R392C	.|ENSP00000358991:R366C	P|R	-|-	2|1	0|0	IRAK1|IRAK1	152935222|152935222	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.970000|0.970000	0.65996|0.65996	3.897000|3.897000	0.56273|0.56273	2.002000|2.002000	0.58637|0.58637	0.529000|0.529000	0.55759|0.55759	CCG|CGC	IRAK1	-	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	ENSG00000184216		0.647	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK1	HGNC	protein_coding	OTTHUMT00000061143.3	-	0.00	57	0	G			153282028	-1	tier1	rs143993525	no_errors	ENST00000369980	ensembl	human	known	74_37	missense	52.83	25	28	SNP	1.000	A
KAT2B	8850	genome.wustl.edu	37	3	20193844	20193844	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:20193844C>T	ENST00000263754.4	+	18	2781	c.2326C>T	c.(2326-2328)Cgc>Tgc	p.R776C		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	776	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035, ECO:0000305}.				cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CATGAGTGAACGCCTCAAGAA	0.408																																																	0													82.0	82.0	82.0					3																	20193844		2203	4300	6503	SO:0001583	missense	0			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.2326C>T	3.37:g.20193844C>T	ENSP00000263754:p.Arg776Cys		Q6NSK1	Missense_Mutation	SNP	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom	p.R776C	ENST00000263754.4	37	c.2326	CCDS2634.1	3	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931141	0.92389	.	.	ENSG00000114166	ENST00000263754	T	0.22945	1.93	5.67	5.67	0.87782	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.63640	0.2528	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73760	-0.3881	10	0.87932	D	0	-14.2286	14.9253	0.70871	0.1431:0.8569:0.0:0.0	.	776	Q92831	KAT2B_HUMAN	C	776	ENSP00000263754:R776C	ENSP00000263754:R776C	R	+	1	0	KAT2B	20168848	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.890000	0.69774	2.836000	0.97738	0.655000	0.94253	CGC	KAT2B	-	pirsf_Hist_acetylase_PCAF,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	ENSG00000114166		0.408	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2B	HGNC	protein_coding	OTTHUMT00000252880.1	-	0.00	36	0	C	NM_003884		20193844	+1	tier1	-	no_errors	ENST00000263754	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	T
KALRN	8997	genome.wustl.edu	37	3	124114025	124114025	+	Missense_Mutation	SNP	A	A	G			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:124114025A>G	ENST00000240874.3	+	12	2157	c.2000A>G	c.(1999-2001)gAt>gGt	p.D667G	KALRN_ENST00000360013.3_Missense_Mutation_p.D667G|KALRN_ENST00000460856.1_Missense_Mutation_p.D667G	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	667					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATGTTGGAGGATGTCTGTGCA	0.527																																																	0													108.0	98.0	101.0					3																	124114025		2203	4300	6503	SO:0001583	missense	0			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.2000A>G	3.37:g.124114025A>G	ENSP00000240874:p.Asp667Gly		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.D667G	ENST00000240874.3	37	c.2000	CCDS3027.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.67|16.67	3.188767|3.188767	0.57909|0.57909	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013;ENST00000439170|ENST00000354186	T;T;T;T|.	0.67345|.	0.85;0.85;-0.26;0.85|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.060669|.	0.64402|.	D|.	0.000006|.	T|T	0.70245|0.70245	0.3202|0.3202	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P;B;P;P|.	0.50819|.	0.774;0.006;0.939;0.855|.	P;B;P;P|.	0.54544|.	0.574;0.011;0.516;0.755|.	T|T	0.69057|0.69057	-0.5246|-0.5246	10|5	0.48119|.	T|.	0.1|.	.|.	15.3885|15.3885	0.74723|0.74723	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	667;26;667;667|.	C9IZQ6;F2Z3Q6;O60229;O60229-2|.	.;.;KALRN_HUMAN;.|.	G|V	667;667;667;143|645	ENSP00000418611:D667G;ENSP00000240874:D667G;ENSP00000353109:D667G;ENSP00000402950:D143G|.	ENSP00000240874:D667G|.	D|M	+|+	2|1	0|0	KALRN|KALRN	125596715|125596715	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.139000|9.139000	0.94554|0.94554	2.225000|2.225000	0.72522|0.72522	0.533000|0.533000	0.62120|0.62120	GAT|ATG	KALRN	-	smart_Spectrin/alpha-actinin	ENSG00000160145		0.527	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258843.4	-	0.00	23	0	A	NM_003947		124114025	+1	tier1	-	no_errors	ENST00000360013	ensembl	human	known	74_37	missense	43.48	13	10	SNP	1.000	G
KCNH1	3756	genome.wustl.edu	37	1	210857068	210857068	+	Missense_Mutation	SNP	T	T	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:210857068T>A	ENST00000271751.4	-	11	2552	c.2525A>T	c.(2524-2526)gAt>gTt	p.D842V	KCNH1_ENST00000367007.4_Missense_Mutation_p.D815V			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	842					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCCGCAAGCATCTTTGAAGCG	0.622																																																	0													71.0	74.0	73.0					1																	210857068		2203	4300	6503	SO:0001583	missense	0			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2525A>T	1.37:g.210857068T>A	ENSP00000271751:p.Asp842Val		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.D842V	ENST00000271751.4	37	c.2525	CCDS1496.1	1	.	.	.	.	.	.	.	.	.	.	T	13.83	2.355539	0.41700	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98968	-5.23;-5.28	4.66	4.66	0.58398	.	0.098661	0.64402	D	0.000002	D	0.97034	0.9031	L	0.54323	1.7	0.58432	D	0.999998	B;B	0.19935	0.012;0.04	B;B	0.20767	0.031;0.017	D	0.95982	0.8978	10	0.36615	T	0.2	.	14.1189	0.65175	0.0:0.0:0.0:1.0	.	815;842	Q14CL3;O95259	.;KCNH1_HUMAN	V	842;815	ENSP00000271751:D842V;ENSP00000355974:D815V	ENSP00000271751:D842V	D	-	2	0	KCNH1	208923691	1.000000	0.71417	0.806000	0.32338	0.816000	0.46133	3.978000	0.56881	1.746000	0.51805	0.459000	0.35465	GAT	KCNH1	-	NULL	ENSG00000143473		0.622	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH1	HGNC	protein_coding	OTTHUMT00000088332.1	-	0.00	36	0	T	NM_002238		210857068	-1	tier1	-	no_errors	ENST00000271751	ensembl	human	known	74_37	missense	46.15	14	12	SNP	1.000	A
KCNMB3	27094	genome.wustl.edu	37	3	178962477	178962477	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:178962477G>A	ENST00000314235.5	-	3	776	c.265C>T	c.(265-267)Cag>Tag	p.Q89*	KCNMB3_ENST00000486944.1_5'Flank|KCNMB3_ENST00000392685.2_Nonsense_Mutation_p.Q85*|KCNMB3_ENST00000497599.1_Nonsense_Mutation_p.Q87*|KCNMB3_ENST00000349697.2_Nonsense_Mutation_p.Q87*|KCNMB3_ENST00000485523.1_Nonsense_Mutation_p.Q67*	NM_014407.3	NP_055222.3	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	89					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)		Miconazole(DB01110)|Procaine(DB00721)	TCTTCTCTCTGAATGCTTCAA	0.433																																																	0													52.0	52.0	52.0					3																	178962477		2203	4300	6503	SO:0001587	stop_gained	0			AF139471	CCDS3225.1, CCDS3226.1, CCDS43172.1, CCDS43173.1, CCDS54683.1	3q26.3-q27	2010-09-30			ENSG00000171121	ENSG00000171121		"""Potassium channels"""	6287	protein-coding gene	gene with protein product		605222		KCNMB2, KCNMBL		10585773	Standard	NM_001163677		Approved		uc003fjm.3	Q9NPA1	OTTHUMG00000157337	ENST00000314235.5:c.265C>T	3.37:g.178962477G>A	ENSP00000319370:p.Gln89*		B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Nonsense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_bsu	p.Q89*	ENST00000314235.5	37	c.265	CCDS3226.1	3	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694826	0.48202	.	.	ENSG00000171121	ENST00000497599;ENST00000392685;ENST00000349697;ENST00000314235;ENST00000485523	.	.	.	5.43	2.4	0.29515	.	0.414974	0.27739	N	0.018041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-14.8375	3.9475	0.09355	0.2568:0.0:0.53:0.2132	.	.	.	.	X	87;85;87;89;67	.	ENSP00000319370:Q89X	Q	-	1	0	KCNMB3	180445171	0.993000	0.37304	0.023000	0.16930	0.018000	0.09664	2.337000	0.43947	0.231000	0.21079	-0.150000	0.13652	CAG	KCNMB3	-	pfam_K_chnl_Ca-activ_BK_bsu	ENSG00000171121		0.433	KCNMB3-004	KNOWN	basic|CCDS	protein_coding	KCNMB3	HGNC	protein_coding	OTTHUMT00000348484.1		0.00	24	0	G			178962477	-1			no_errors	ENST00000314235	ensembl	human	known	74_37	nonsense	7.27	51	4	SNP	0.096	A
KIAA1024	23251	genome.wustl.edu	37	15	79749998	79749998	+	Silent	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr15:79749998C>T	ENST00000305428.3	+	2	1584	c.1509C>T	c.(1507-1509)acC>acT	p.T503T		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	503						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						ACAGGCACACCATGAAGCACT	0.532																																																	0													110.0	88.0	96.0					15																	79749998		2196	4293	6489	SO:0001819	synonymous_variant	0			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1509C>T	15.37:g.79749998C>T			A7MD43	Silent	SNP	pfam_UPF0258	p.T503	ENST00000305428.3	37	c.1509	CCDS32306.1	15																																																																																			KIAA1024	-	NULL	ENSG00000169330		0.532	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1024	HGNC	protein_coding	OTTHUMT00000416718.1	-	0.00	24	0	C	NM_015206		79749998	+1	tier1	-	no_errors	ENST00000305428	ensembl	human	known	74_37	silent	30.00	14	6	SNP	0.103	T
KLK11	11012	genome.wustl.edu	37	19	51525871	51525871	+	Missense_Mutation	SNP	C	C	T	rs200362022		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:51525871C>T	ENST00000594768.1	-	6	964	c.779G>A	c.(778-780)cGa>cAa	p.R260Q	KLK11_ENST00000600362.1_Missense_Mutation_p.R87Q|KLK10_ENST00000391805.1_5'Flank|KLK11_ENST00000319720.7_Missense_Mutation_p.R228Q|KLK11_ENST00000453757.3_Missense_Mutation_p.R228Q|KLK10_ENST00000309958.3_5'Flank|KLK10_ENST00000358789.3_5'Flank|KLK11_ENST00000391804.3_Missense_Mutation_p.R253Q|KLK11_ENST00000594458.1_5'Flank	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	260	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		ACCAGGCTTTCGGGTGATCGC	0.572																																																	0													157.0	147.0	150.0					19																	51525871		2203	4300	6503	SO:0001583	missense	0			AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6359	protein-coding gene	gene with protein product		604434	"""kallikrein 11"""	PRSS20		9765601, 10662548, 16800724, 16800723	Standard	NM_006853		Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.779G>A	19.37:g.51525871C>T	ENSP00000473047:p.Arg260Gln		O75837|Q0WXX5|Q8IXD7|Q9NS65	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.R260Q	ENST00000594768.1	37	c.779	CCDS12818.1	19	.	.	.	.	.	.	.	.	.	.	c	9.034	0.988090	0.18966	.	.	ENSG00000167757	ENST00000391804;ENST00000319720;ENST00000453757;ENST00000319756	D;D;D	0.88741	-2.42;-2.42;-2.42	4.42	-0.277	0.12898	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.414158	0.17023	U	0.190034	T	0.72153	0.3425	N	0.08118	0	0.09310	N	1	B;B	0.32829	0.386;0.253	B;B	0.22753	0.041;0.028	T	0.63580	-0.6605	10	0.56958	D	0.05	.	8.4759	0.33012	0.0:0.6617:0.0:0.3383	.	260;253	Q9UBX7;Q8IXD7	KLK11_HUMAN;.	Q	253;228;228;260	ENSP00000375680:R253Q;ENSP00000324269:R228Q;ENSP00000413958:R228Q	ENSP00000324269:R228Q	R	-	2	0	KLK11	56217683	0.001000	0.12720	0.004000	0.12327	0.608000	0.37181	-0.015000	0.12634	-0.076000	0.12775	0.305000	0.20034	CGA	KLK11	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000167757		0.572	KLK11-002	KNOWN	basic|CCDS	protein_coding	KLK11	HGNC	protein_coding	OTTHUMT00000464314.2		0.00	39	0	C	NM_006853		51525871	-1			no_errors	ENST00000594768	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.000	T
KRT24	192666	genome.wustl.edu	37	17	38856630	38856630	+	Missense_Mutation	SNP	C	C	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr17:38856630C>A	ENST00000264651.2	-	4	917	c.861G>T	c.(859-861)atG>atT	p.M287I		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	287	Coil 1B.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				GCATATTCTTCATTTCCTAGC	0.448																																					GBM(61;380 1051 14702 23642 31441)												0													168.0	181.0	177.0					17																	38856630		2203	4300	6503	SO:0001583	missense	0				CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.861G>T	17.37:g.38856630C>A	ENSP00000264651:p.Met287Ile		Q9NXG7	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.M287I	ENST00000264651.2	37	c.861	CCDS11372.1	17	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507678	0.27036	.	.	ENSG00000167916	ENST00000264651	D	0.86694	-2.16	5.86	4.89	0.63831	Prefoldin (1);Filament (1);	.	.	.	.	T	0.81912	0.4923	L	0.41236	1.265	0.35159	D	0.770487	B	0.11235	0.004	B	0.12156	0.007	T	0.82057	-0.0646	9	0.54805	T	0.06	.	11.0251	0.47741	0.3195:0.567:0.1135:0.0	.	287	Q2M2I5	K1C24_HUMAN	I	287	ENSP00000264651:M287I	ENSP00000264651:M287I	M	-	3	0	KRT24	36110156	0.267000	0.24122	0.998000	0.56505	0.256000	0.26092	0.243000	0.18106	1.456000	0.47831	0.563000	0.77884	ATG	KRT24	-	pfam_IF,superfamily_Prefoldin	ENSG00000167916		0.448	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT24	HGNC	protein_coding	OTTHUMT00000257217.1	-	0.00	17	0	C	NM_019016		38856630	-1	tier1	-	no_errors	ENST00000264651	ensembl	human	known	74_37	missense	26.09	17	6	SNP	1.000	A
KRT82	3888	genome.wustl.edu	37	12	52800029	52800029	+	Silent	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr12:52800029C>T	ENST00000257974.2	-	1	110	c.33G>A	c.(31-33)agG>agA	p.R11R	RP11-1020M18.10_ENST00000548135.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	11	Head.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GACTGCCACACCTGGAGCCTG	0.612																																																	0													35.0	31.0	33.0					12																	52800029		2202	4299	6501	SO:0001819	synonymous_variant	0			Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.33G>A	12.37:g.52800029C>T				Silent	SNP	pfam_IF,prints_Keratin_II,prints_Keratin_I	p.R11	ENST00000257974.2	37	c.33	CCDS8826.1	12																																																																																			KRT82	-	NULL	ENSG00000161850		0.612	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT82	HGNC	protein_coding	OTTHUMT00000405189.1	-	0.00	48	0	C	NM_033033		52800029	-1	tier1	-	no_errors	ENST00000257974	ensembl	human	known	74_37	silent	45.83	13	11	SNP	0.317	T
KYNU	8942	genome.wustl.edu	37	2	143799646	143799646	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:143799646G>T	ENST00000264170.4	+	14	1561	c.1303G>T	c.(1303-1305)Gtg>Ttg	p.V435L	KYNU_ENST00000409512.1_Missense_Mutation_p.V435L	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TGGCATTCGagtggctccagt	0.363																																																	0													132.0	131.0	131.0					2																	143799646		2203	4299	6502	SO:0001583	missense	0			U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.1303G>T	2.37:g.143799646G>T	ENSP00000264170:p.Val435Leu			Missense_Mutation	SNP	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase	p.V435L	ENST00000264170.4	37	c.1303	CCDS2183.1	2	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993917	0.54041	.	.	ENSG00000115919	ENST00000264170;ENST00000409512	T;T	0.51071	0.72;0.72	5.09	5.09	0.68999	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.184300	0.47093	D	0.000257	T	0.30823	0.0777	N	0.20483	0.58	0.80722	D	1	B	0.12630	0.006	B	0.12837	0.008	T	0.09207	-1.0685	10	0.09590	T	0.72	.	14.1723	0.65517	0.0:0.0:1.0:0.0	.	435	Q16719	KYNU_HUMAN	L	435	ENSP00000264170:V435L;ENSP00000386731:V435L	ENSP00000264170:V435L	V	+	1	0	KYNU	143516116	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.713000	0.61895	2.804000	0.96469	0.650000	0.86243	GTG	KYNU	-	superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase	ENSG00000115919		0.363	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KYNU	HGNC	protein_coding	OTTHUMT00000254772.1	-	0.00	51	0	G	NM_001032998		143799646	+1	tier1	-	no_errors	ENST00000264170	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T
LARP7	51574	genome.wustl.edu	37	4	113570753	113570754	+	Frame_Shift_Ins	INS	-	-	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr4:113570753_113570754insA	ENST00000344442.5	+	9	1483_1484	c.1205_1206insA	c.(1204-1209)ttaaaafs	p.LK402fs	MIR302B_ENST00000362188.1_RNA|MIR302D_ENST00000362275.1_RNA|LARP7_ENST00000324052.6_Frame_Shift_Ins_p.LK402fs|MIR302C_ENST00000362232.1_RNA|MIR367_ENST00000362299.1_RNA|MIR302A_ENST00000385192.1_RNA|LARP7_ENST00000509061.1_Frame_Shift_Ins_p.LK409fs|MIR302B_ENST00000509938.1_RNA|MIR302B_ENST00000505215.1_RNA|MIR302B_ENST00000510655.1_RNA	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	402					RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T405fs*5(2)		endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		ATGGCTTCTTTAAAAAAAACAA	0.332																																																	2	Deletion - Frameshift(2)	large_intestine(1)|lung(1)																																								SO:0001589	frameshift_variant	0			AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	24912	protein-coding gene	gene with protein product	"""P-TEFb-interaction protein for 7SK stability"""	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.1213dupA	4.37:g.113570761_113570761dupA	ENSP00000344950:p.Leu402fs		B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Frame_Shift_Ins	INS	pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La	p.T405fs	ENST00000344442.5	37	c.1205_1206	CCDS3701.2	4																																																																																			LARP7	-	NULL	ENSG00000174720		0.332	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP7	HGNC	protein_coding	OTTHUMT00000256417.2		0.00	28	0	-	NM_016648		113570754	+1	tier1		no_errors	ENST00000324052	ensembl	human	known	74_37	frame_shift_ins	6.45	29	2	INS	1.000:1.000	A
LHX4	89884	genome.wustl.edu	37	1	180243502	180243502	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:180243502C>T	ENST00000263726.2	+	6	1205	c.961C>T	c.(961-963)Cca>Tca	p.P321S	RP5-1180C10.2_ENST00000440959.2_RNA|RP5-1180C10.2_ENST00000415414.1_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	321					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						ATCGTCCCTGCCATCCCACGC	0.567																																																	0													209.0	183.0	192.0					1																	180243502		2203	4300	6503	SO:0001583	missense	0			AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.961C>T	1.37:g.180243502C>T	ENSP00000263726:p.Pro321Ser		Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.P321S	ENST00000263726.2	37	c.961	CCDS1338.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283120	0.80803	.	.	ENSG00000121454	ENST00000263726	D	0.89681	-2.55	5.68	5.68	0.88126	.	0.056854	0.64402	D	0.000001	D	0.89322	0.6682	M	0.68317	2.08	0.80722	D	1	B	0.31193	0.312	B	0.34093	0.175	D	0.88162	0.2858	10	0.59425	D	0.04	.	18.5603	0.91097	0.0:1.0:0.0:0.0	.	321	Q969G2	LHX4_HUMAN	S	321	ENSP00000263726:P321S	ENSP00000263726:P321S	P	+	1	0	LHX4	178510125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.345000	0.79337	2.662000	0.90505	0.655000	0.94253	CCA	LHX4	-	NULL	ENSG00000121454		0.567	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHX4	HGNC	protein_coding	OTTHUMT00000084995.2	-	0.00	68	0	C	NM_033343		180243502	+1	tier1	-	no_errors	ENST00000263726	ensembl	human	known	74_37	missense	8.62	53	5	SNP	1.000	T
LINC00969	440993	genome.wustl.edu	37	3	195412992	195412992	+	lincRNA	SNP	A	A	G	rs78973672	byFrequency	TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:195412992A>G	ENST00000445430.1	+	0	4189									long intergenic non-protein coding RNA 969																		CAGCTGTTAAATAAAATATAA	0.363																																																	0																																												0			AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195412992A>G				RNA	SNP	-	NULL	ENST00000445430.1	37	NULL		3																																																																																			LINC00969	-	-	ENSG00000242086		0.363	LINC00969-038	KNOWN	basic	lincRNA	LINC00969	HGNC	lincRNA	OTTHUMT00000341951.1	-	0.00	17	0	A			195412992	+1	tier1	rs78973672	no_errors	ENST00000414625	ensembl	human	known	74_37	rna	30.43	16	7	SNP	0.034	G
TRPA1	8989	genome.wustl.edu	37	8	72967916	72967916	+	Intron	SNP	C	C	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr8:72967916C>A	ENST00000262209.4	-	11	1572				RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1						calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TAGACTGACCCTTACCTGGCT	0.383																																																	0													57.0	55.0	56.0					8																	72967916		2203	4299	6502	SO:0001627	intron_variant	0			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1364+4G>T	8.37:g.72967916C>A			A6NIN6	RNA	SNP	-	NULL	ENST00000262209.4	37	NULL	CCDS34908.1	8																																																																																			RP11-383H13.1	-	-	ENSG00000235531		0.383	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100132891	Clone_based_vega_gene	protein_coding	OTTHUMT00000379079.2	-	0.00	68	0	C	NM_007332		72967916	+1	tier1	-	no_errors	ENST00000457356	ensembl	human	known	74_37	rna	43.68	49	38	SNP	0.844	A
RP11-403I13.4	0	genome.wustl.edu	37	1	149240004	149240004	+	lincRNA	SNP	C	C	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:149240004C>A	ENST00000325963.8	+	0	137																											AAGAGAACTTCCGAGACCTCA	0.478																																																	0																																												0																															1.37:g.149240004C>A				RNA	SNP	-	NULL	ENST00000325963.8	37	NULL		1																																																																																			RP11-403I13.4	-	-	ENSG00000223779		0.478	RP11-403I13.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	LOC100293748	Clone_based_vega_gene	lincRNA	OTTHUMT00000099551.1	-	0.00	316	0	C			149240004	+1	tier1	-	no_errors	ENST00000325963	ensembl	human	known	74_37	rna	23.62	194	60	SNP	0.005	A
MTMR9	66036	genome.wustl.edu	37	8	11177526	11177526	+	Intron	DEL	T	T	-			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr8:11177526delT	ENST00000221086.3	+	9	1959				MTMR9_ENST00000526292.1_Intron|AF131216.6_ENST00000498997.2_RNA	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9							cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CTAGCCACACTTTTTTTTTTT	0.363																																																	0																																										SO:0001627	intron_variant	0			AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.1486+179T>-	8.37:g.11177526delT			B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	RNA	DEL	-	NULL	ENST00000221086.3	37	NULL	CCDS5979.1	8																																																																																			AF131216.6	-	-	ENSG00000246477		0.363	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101929290	Clone_based_vega_gene	protein_coding	OTTHUMT00000207307.2		0.00	10	0	T	NM_015458		11177526	-1	tier1		no_errors	ENST00000498997	ensembl	human	known	74_37	rna	21.43	11	3	DEL	0.005	-
FAP	2191	genome.wustl.edu	37	2	163027347	163027347	+	3'UTR	DEL	T	T	-			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:163027347delT	ENST00000188790.4	-	0	2632				AC007750.5_ENST00000418968.3_RNA|FAP_ENST00000443424.1_3'UTR|AC007750.5_ENST00000609668.1_RNA	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						AGTCCTCATCTTTTTTTTAAC	0.308																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.*142A>-	2.37:g.163027347delT				RNA	DEL	-	NULL	ENST00000188790.4	37	NULL	CCDS33311.1	2																																																																																			AC007750.5	-	-	ENSG00000236841		0.308	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101929532	Clone_based_vega_gene	protein_coding	OTTHUMT00000332852.2		0.00	43	0	T			163027347	+1	tier1		no_errors	ENST00000418968	ensembl	human	known	74_37	rna	66.00	17	33	DEL	0.000	-
LOC388882	388882	genome.wustl.edu	37	22	23822639	23822639	+	lincRNA	SNP	T	T	C			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr22:23822639T>C	ENST00000320372.9	-	0	240																											CCAGAAGCCATGATGCCTCCA	0.408																																																	0																																												0																															22.37:g.23822639T>C				RNA	SNP	-	NULL	ENST00000320372.9	37	NULL		22																																																																																			AP000345.1	-	-	ENSG00000178248		0.408	AP000345.1-001	KNOWN	basic	lincRNA	LOC388882	Clone_based_vega_gene	lincRNA	OTTHUMT00000319544.1	-	0.00	104	0	T			23822639	-1	tier1	-	no_errors	ENST00000320372	ensembl	human	known	74_37	rna	5.97	63	4	SNP	0.000	C
LRRC34	151827	genome.wustl.edu	37	3	169514579	169514579	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:169514579C>T	ENST00000316515.7	-	7	1003	c.727G>A	c.(727-729)Gat>Aat	p.D243N	LRRC34_ENST00000524327.1_5'UTR|RP11-362K14.6_ENST00000602835.1_RNA|LRRC34_ENST00000522830.1_Missense_Mutation_p.D227N|RP11-362K14.7_ENST00000602913.1_RNA|LRRC34_ENST00000522526.2_Missense_Mutation_p.D256N|LRRC34_ENST00000446859.1_Missense_Mutation_p.D288N	NM_153353.4	NP_699184.2	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	243										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TACAGTGCATCACATAACTGT	0.358																																																	0													140.0	117.0	124.0					3																	169514579		2203	4300	6503	SO:0001583	missense	0			AK095125	CCDS3208.1, CCDS3208.2, CCDS54672.1	3q26.2	2014-03-18			ENSG00000171757	ENSG00000171757			28408	protein-coding gene	gene with protein product						12477932	Standard	NM_153353		Approved	MGC27085	uc003ffy.3	Q8IZ02	OTTHUMG00000164419	ENST00000316515.7:c.727G>A	3.37:g.169514579C>T	ENSP00000326150:p.Asp243Asn		B4DEJ7|E9PBH2|G5E9T7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.D288N	ENST00000316515.7	37	c.862		3	.	.	.	.	.	.	.	.	.	.	C	8.900	0.956093	0.18507	.	.	ENSG00000171757	ENST00000446859;ENST00000316515;ENST00000522830;ENST00000522526;ENST00000528597	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.9	5.97	2.22	0.28083	.	0.445951	0.28724	N	0.014358	T	0.37625	0.1010	L	0.45352	1.415	0.35472	D	0.797456	B;B;B;B;B	0.18310	0.001;0.004;0.002;0.027;0.006	B;B;B;B;B	0.15484	0.002;0.002;0.006;0.013;0.004	T	0.34825	-0.9813	10	0.45353	T	0.12	-7.97	10.3027	0.43661	0.0:0.7421:0.0:0.2579	.	275;227;227;288;243	B4DHF2;B3KT77;G3V115;G5E9T7;Q8IZ02	.;.;.;.;LRC34_HUMAN	N	288;243;227;256;37	ENSP00000414635:D288N;ENSP00000326150:D243N;ENSP00000429593:D227N;ENSP00000429278:D256N;ENSP00000436883:D37N	ENSP00000326150:D243N	D	-	1	0	LRRC34	170997273	1.000000	0.71417	0.258000	0.24420	0.004000	0.04260	2.763000	0.47605	0.142000	0.18901	-0.820000	0.03113	GAT	LRRC34	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000171757		0.358	LRRC34-201	KNOWN	basic	protein_coding	LRRC34	HGNC	protein_coding			0.00	23	0	C	NM_153353		169514579	-1			no_errors	ENST00000446859	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.999	T
LYPD2	137797	genome.wustl.edu	37	8	143832527	143832527	+	Silent	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr8:143832527G>A	ENST00000359228.3	-	2	202	c.120C>T	c.(118-120)atC>atT	p.I40I		NM_205545.1	NP_991108.1	Q6UXB3	LYPD2_HUMAN	LY6/PLAUR domain containing 2	40	UPAR/Ly6.					anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGCAGGTGGCGATGGTGACAC	0.657																																																	0													260.0	206.0	224.0					8																	143832527		2203	4300	6503	SO:0001819	synonymous_variant	0			AY358432	CCDS6388.1	8q24.3	2005-08-30		2005-08-30	ENSG00000197353	ENSG00000197353			25215	protein-coding gene	gene with protein product				LYPDC2		12975309	Standard	NM_205545		Approved	RGTR430, UNQ430	uc003ywz.3	Q6UXB3	OTTHUMG00000164686	ENST00000359228.3:c.120C>T	8.37:g.143832527G>A			A8K2R6|Q0VD64|Q0VF31	Silent	SNP	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	p.I40	ENST00000359228.3	37	c.120	CCDS6388.1	8																																																																																			LYPD2	-	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	ENSG00000197353		0.657	LYPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD2	HGNC	protein_coding	OTTHUMT00000379742.1		0.00	46	0	G	NM_205545		143832527	-1			no_errors	ENST00000359228	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.000	A
MACF1	23499	genome.wustl.edu	37	1	39893127	39893127	+	Splice_Site	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:39893127G>T	ENST00000372915.3	+	61	16419	c.16332G>T	c.(16330-16332)agG>agT	p.R5444S	MACF1_ENST00000289893.4_Splice_Site_p.R3879S|MACF1_ENST00000567887.1_Splice_Site_p.R5476S|MACF1_ENST00000539005.1_Splice_Site_p.R3356S|MACF1_ENST00000545844.1_Splice_Site_p.R3377S|MACF1_ENST00000317713.7_Splice_Site_p.R3377S|MACF1_ENST00000361689.2_Splice_Site_p.R3377S|MACF1_ENST00000564288.1_Splice_Site_p.R5439S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5444					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATTTGTGTAGGCAAAAACAGC	0.383																																																	0													89.0	94.0	93.0					1																	39893127		2203	4300	6503	SO:0001630	splice_region_variant	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16332-1G>T	1.37:g.39893127G>T			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.R3377S	ENST00000372915.3	37	c.10131		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.273495|4.273495	0.80580|0.80580	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000482035	.|T;T;T;T;T;T;T	.|0.61274	.|0.12;0.12;0.12;0.12;0.12;0.12;0.12	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.81767|0.81767	0.4892|0.4892	M|M	0.89904|0.89904	3.07|3.07	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.85130	.|0.997;0.996;0.997	D|D	0.84188|0.84188	0.0443|0.0443	5|9	.|.	.|.	.|.	.|.	19.8304|19.8304	0.96632|0.96632	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|5444;3377;3321	.|Q9UPN3;F8W8Q1;Q9UPN3-3	.|MACF1_HUMAN;.;.	S|S	2490|3377;5444;3377;3377;3356;3879;193	.|ENSP00000439537:R3377S;ENSP00000362006:R5444S;ENSP00000354573:R3377S;ENSP00000313438:R3377S;ENSP00000444364:R3356S;ENSP00000289893:R3879S;ENSP00000433104:R193S	.|.	A|R	+|+	1|3	0|2	MACF1|MACF1	39665714|39665714	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.903000|0.903000	0.53119|0.53119	4.884000|4.884000	0.63135|0.63135	2.692000|2.692000	0.91855|0.91855	0.557000|0.557000	0.71058|0.71058	GCA|AGG	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000127603		0.383	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	-	0.00	45	0	G	NM_033044	Missense_Mutation	39893127	+1	tier1	-	no_errors	ENST00000317713	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T
MAGI3	260425	genome.wustl.edu	37	1	113933940	113933940	+	Silent	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:113933940C>T	ENST00000307546.9	+	1	360	c.285C>T	c.(283-285)cgC>cgT	p.R95R	MAGI3_ENST00000369615.1_Silent_p.R95R|MAGI3_ENST00000369617.4_Silent_p.R95R|MAGI3_ENST00000369611.4_Silent_p.R95R|MAGI3_ENST00000486456.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	95	Interaction with ADRB1 and TGFA. {ECO:0000250}.|PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCACTTCCGCGAGCCCATCC	0.667																																																	0													19.0	17.0	18.0					1																	113933940		2201	4292	6493	SO:0001819	synonymous_variant	0			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.285C>T	1.37:g.113933940C>T			Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.R95	ENST00000307546.9	37	c.285	CCDS44196.1	1																																																																																			MAGI3	-	superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000081026		0.667	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032429.1	-	0.00	107	0	C	NM_152900		113933940	+1	tier1	-	no_errors	ENST00000369611	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.982	T
MAPT	4137	genome.wustl.edu	37	17	44061259	44061259	+	Silent	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr17:44061259G>A	ENST00000571987.1	+	5	1089	c.1089G>A	c.(1087-1089)ccG>ccA	p.P363P	MAPT_ENST00000334239.8_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000344290.5_Silent_p.P363P|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000415613.2_Silent_p.P363P|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000262410.5_Silent_p.P363P|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000574436.1_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	363					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	CTGCTGCTCCGCGGGGGAAGC	0.662																																																	0													62.0	76.0	71.0					17																	44061259		2073	4070	6143	SO:0001819	synonymous_variant	0			J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.1089G>A	17.37:g.44061259G>A			P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Silent	SNP	pfam_MAP_tubulin-bd_rpt,prints_Tau	p.P363	ENST00000571987.1	37	c.1089	CCDS11501.1	17																																																																																			MAPT	-	NULL	ENSG00000186868		0.662	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MAPT	HGNC	protein_coding	OTTHUMT00000440133.1	-	0.00	70	0	G	NM_016835		44061259	+1	tier1	-	no_errors	ENST00000344290	ensembl	human	known	74_37	silent	22.41	44	13	SNP	0.001	A
MAST3	23031	genome.wustl.edu	37	19	18255876	18255876	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:18255876C>T	ENST00000262811.6	+	23	2789	c.2789C>T	c.(2788-2790)tCg>tTg	p.S930L	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	930	Ser-rich.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S952L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCGAACCCGTCGTCCCGTGAC	0.667																																																	1	Substitution - Missense(1)	large_intestine(1)											47.0	53.0	51.0					19																	18255876		1969	4148	6117	SO:0001583	missense	0			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2789C>T	19.37:g.18255876C>T	ENSP00000262811:p.Ser930Leu		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.S930L	ENST00000262811.6	37	c.2789	CCDS46014.1	19	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874836	0.91664	.	.	ENSG00000099308	ENST00000262811	T	0.73681	-0.77	4.72	4.72	0.59763	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	D	0.87888	0.6291	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90412	0.4410	10	0.87932	D	0	-19.545	16.6471	0.85179	0.0:1.0:0.0:0.0	.	930	O60307	MAST3_HUMAN	L	930	ENSP00000262811:S930L	ENSP00000262811:S930L	S	+	2	0	MAST3	18116876	1.000000	0.71417	0.927000	0.36925	0.752000	0.42762	7.742000	0.85008	2.178000	0.69098	0.313000	0.20887	TCG	MAST3	-	superfamily_PDZ	ENSG00000099308		0.667	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2		0.00	80	0	C	XM_038150		18255876	+1			no_errors	ENST00000262811	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.998	T
MB21D2	151963	genome.wustl.edu	37	3	192516915	192516915	+	Missense_Mutation	SNP	C	C	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:192516915C>A	ENST00000392452.2	-	2	1056	c.736G>T	c.(736-738)Gca>Tca	p.A246S		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	246							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TGGGCCACTGCAGGCCAACCT	0.488																																																	0													86.0	80.0	82.0					3																	192516915		2203	4300	6503	SO:0001583	missense	0			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.736G>T	3.37:g.192516915C>A	ENSP00000376246:p.Ala246Ser		Q86VD8	Missense_Mutation	SNP	pfam_Mab-21_dom	p.A246S	ENST00000392452.2	37	c.736	CCDS3302.2	3	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436554	0.62955	.	.	ENSG00000180611	ENST00000392452	T	0.07688	3.17	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.19805	0.0476	L	0.50919	1.6	0.80722	D	1	D	0.65815	0.995	P	0.61722	0.893	T	0.04140	-1.0974	10	0.10111	T	0.7	-16.7747	18.6978	0.91607	0.0:1.0:0.0:0.0	.	246	Q8IYB1	M21D2_HUMAN	S	246	ENSP00000376246:A246S	ENSP00000376246:A246S	A	-	1	0	MB21D2	193999609	1.000000	0.71417	0.523000	0.27875	0.994000	0.84299	7.818000	0.86416	2.652000	0.90054	0.655000	0.94253	GCA	MB21D2	-	pfam_Mab-21_dom	ENSG00000180611		0.488	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D2	HGNC	protein_coding	OTTHUMT00000341543.1	-	0.00	45	0	C	NM_178496		192516915	-1	tier1	-	no_errors	ENST00000392452	ensembl	human	known	74_37	missense	17.91	55	12	SNP	1.000	A
MEF2C	4208	genome.wustl.edu	37	5	88027605	88027605	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr5:88027605G>T	ENST00000437473.2	-	7	1168	c.751C>A	c.(751-753)Cgt>Agt	p.R251S	MEF2C_ENST00000539796.1_Missense_Mutation_p.R203S|MEF2C_ENST00000504921.2_Missense_Mutation_p.R251S|MEF2C_ENST00000510942.1_Missense_Mutation_p.R251S|MEF2C_ENST00000340208.5_Missense_Mutation_p.R269S|MEF2C_ENST00000514028.1_Missense_Mutation_p.R251S|MEF2C_ENST00000506554.1_Missense_Mutation_p.R251S|MEF2C_ENST00000514015.1_Missense_Mutation_p.R251S|MEF2C_ENST00000508569.1_Missense_Mutation_p.R251S|MEF2C_ENST00000424173.2_Missense_Mutation_p.R249S|MEF2C_ENST00000503554.1_5'Flank	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	251					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TCTGGTTTACGGTTATTCATT	0.393										HNSCC(66;0.2)																																							0													106.0	103.0	104.0					5																	88027605		1846	4090	5936	SO:0001583	missense	0			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.751C>A	5.37:g.88027605G>T	ENSP00000396219:p.Arg251Ser		C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox	p.R251S	ENST00000437473.2	37	c.751	CCDS47245.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.454238	0.96223	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796	T;T;T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.65481	0.2695	M	0.80183	2.485	0.80722	D	1	P;P;D;D	0.76494	0.637;0.936;0.997;0.999	B;P;D;D	0.75020	0.388;0.754;0.985;0.952	T	0.66642	-0.5872	10	0.72032	D	0.01	-5.019	20.5666	0.99351	0.0:0.0:1.0:0.0	.	249;269;251;251	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	S	269;249;251;251;251;251;251;251;251;203	ENSP00000340874:R269S;ENSP00000389610:R249S;ENSP00000421925:R251S;ENSP00000426665:R251S;ENSP00000396219:R251S;ENSP00000422390:R251S;ENSP00000425636:R251S;ENSP00000423597:R251S;ENSP00000424606:R251S;ENSP00000441153:R203S	ENSP00000340874:R269S	R	-	1	0	MEF2C	88063361	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.854000	0.98071	0.655000	0.94253	CGT	MEF2C	-	NULL	ENSG00000081189		0.393	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	MEF2C	HGNC	protein_coding	OTTHUMT00000369817.1	-	0.00	67	0	G	NM_002397		88027605	-1	tier1	-	no_errors	ENST00000437473	ensembl	human	known	74_37	missense	51.52	16	17	SNP	1.000	T
MEGF11	84465	genome.wustl.edu	37	15	66274746	66274746	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr15:66274746C>T	ENST00000409699.2	-	6	647	c.475G>A	c.(475-477)Ggc>Agc	p.G159S	MEGF11_ENST00000422354.1_Missense_Mutation_p.G159S|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.G84S|MEGF11_ENST00000395625.2_Missense_Mutation_p.G84S|MEGF11_ENST00000360698.4_Missense_Mutation_p.G159S			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	159	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						ACGCAGGCGCCTGTGATGGGG	0.701																																																	0													3.0	4.0	4.0					15																	66274746		1927	3989	5916	SO:0001583	missense	0			AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.475G>A	15.37:g.66274746C>T	ENSP00000386908:p.Gly159Ser		Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain	p.G159S	ENST00000409699.2	37	c.475	CCDS10213.2	15	.	.	.	.	.	.	.	.	.	.	C	19.63	3.864119	0.71949	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625;ENST00000360698	T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49	3.73	2.79	0.32731	EGF-like, laminin (3);Epidermal growth factor-like, type 3 (1);	0.163445	0.28382	U	0.015559	D	0.88998	0.6590	M	0.82323	2.585	0.54753	D	0.999985	D;D	0.89917	1.0;0.993	D;D	0.97110	1.0;0.946	D	0.89411	0.3703	10	0.87932	D	0	.	11.8907	0.52628	0.0:0.8222:0.1778:0.0	.	159;84	A6BM72;A6BM72-2	MEG11_HUMAN;.	S	159;84;159;84;159	ENSP00000386908:G159S;ENSP00000288745:G84S;ENSP00000414475:G159S;ENSP00000378987:G84S;ENSP00000353919:G159S	ENSP00000288745:G84S	G	-	1	0	MEGF11	64061800	1.000000	0.71417	0.938000	0.37757	0.242000	0.25591	7.509000	0.81698	0.763000	0.33175	-0.304000	0.09214	GGC	MEGF11	-	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom	ENSG00000157890		0.701	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF11	HGNC	protein_coding	OTTHUMT00000329307.2	-	0.00	27	0	C	NM_032445		66274746	-1	tier1	-	no_errors	ENST00000409699	ensembl	human	known	74_37	missense	25.00	9	3	SNP	0.996	T
METTL21C	196541	genome.wustl.edu	37	13	103338488	103338488	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr13:103338488C>T	ENST00000267273.6	-	4	693	c.688G>A	c.(688-690)Gac>Aac	p.D230N		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	230					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)	p.D230N(1)		breast(1)|large_intestine(3)|lung(2)|skin(1)	7						AATTCATAGTCGGTGCTGAAC	0.433																																																	1	Substitution - Missense(1)	large_intestine(1)											69.0	65.0	67.0					13																	103338488		2203	4300	6503	SO:0001583	missense	0				CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"""chromosome 13 open reading frame 39"""	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.688G>A	13.37:g.103338488C>T	ENSP00000267273:p.Asp230Asn			Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.D230N	ENST00000267273.6	37	c.688	CCDS32003.1	13	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000631	0.93227	.	.	ENSG00000139780	ENST00000267273	T	0.08634	3.07	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.38321	0.1036	M	0.88979	2.995	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.31308	-0.9948	10	0.59425	D	0.04	-6.6016	19.7905	0.96454	0.0:1.0:0.0:0.0	.	230	Q5VZV1	MT21C_HUMAN	N	230	ENSP00000267273:D230N	ENSP00000267273:D230N	D	-	1	0	METTL21C	102136489	1.000000	0.71417	0.378000	0.26068	0.814000	0.46013	7.447000	0.80620	2.691000	0.91804	0.650000	0.86243	GAC	METTL21C	-	pfam_Nicotinamide_N-MeTfrase-like	ENSG00000139780		0.433	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL21C	HGNC	protein_coding	OTTHUMT00000045682.2		0.00	28	0	C	NM_001010977		103338488	-1			no_errors	ENST00000267273	ensembl	human	known	74_37	missense	13.33	13	2	SNP	0.999	T
MSANTD2	79684	genome.wustl.edu	37	11	124642890	124642890	+	Splice_Site	SNP	T	T	C			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr11:124642890T>C	ENST00000374979.3	-	3	835	c.827A>G	c.(826-828)cAg>cGg	p.Q276R	MSANTD2_ENST00000524950.1_3'UTR|MSANTD2_ENST00000239614.4_Splice_Site_p.Q224R|MSANTD2_ENST00000526629.1_Splice_Site_p.Q46R			Q6P1R3	MSD2_HUMAN	Myb/SANT-like DNA-binding domain containing 2	276																	ATCTACTTACTGTGCTTCTTC	0.333																																																	0													104.0	99.0	101.0					11																	124642890		2199	4297	6496	SO:0001630	splice_region_variant	0			AK026995	CCDS8454.1, CCDS73408.1	11q24.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000120458	ENSG00000120458			26266	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 61"""	C11orf61			Standard	NM_024631		Approved	FLJ23342	uc001qaz.1	Q6P1R3	OTTHUMG00000165931	ENST00000374979.3:c.827+1A>G	11.37:g.124642890T>C			B3KRY6|Q9H042|Q9H5K8	Missense_Mutation	SNP	NULL	p.Q276R	ENST00000374979.3	37	c.827		11	.	.	.	.	.	.	.	.	.	.	T	16.80	3.223944	0.58668	.	.	ENSG00000120458	ENST00000239614;ENST00000374979;ENST00000526629	.	.	.	5.87	5.87	0.94306	.	0.126827	0.53938	D	0.000041	T	0.57858	0.2082	N	0.14661	0.345	0.80722	D	1	B;P	0.48294	0.293;0.908	B;P	0.61397	0.035;0.888	T	0.57631	-0.7778	8	.	.	.	-10.1287	14.8524	0.70306	0.0:0.0:0.0:1.0	.	276;224	Q6P1R3;Q6P1R3-3	CK061_HUMAN;.	R	224;276;46	.	.	Q	-	2	0	C11orf61	124148100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.414000	0.66405	2.244000	0.73946	0.533000	0.62120	CAG	MSANTD2	-	NULL	ENSG00000120458		0.333	MSANTD2-002	KNOWN	basic|appris_principal|exp_conf	protein_coding	MSANTD2	HGNC	protein_coding	OTTHUMT00000387084.1	-	0.00	54	0	T	NM_024631	Missense_Mutation	124642890	-1	tier1	-	no_errors	ENST00000374979	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	C
MSH6	2956	genome.wustl.edu	37	2	48026991	48026991	+	Silent	SNP	C	C	T	rs141242295	byFrequency	TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:48026991C>T	ENST00000234420.5	+	4	2021	c.1869C>T	c.(1867-1869)ccC>ccT	p.P623P	MSH6_ENST00000540021.1_Silent_p.P493P|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Silent_p.P321P	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	623			P -> A (in dbSNP:rs3136334). {ECO:0000269|Ref.4}.|P -> L (no impairment of heterodimerization with MSH2 and of in vitro mismatch repair capacity). {ECO:0000269|PubMed:15354210}.		ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTCTGATACCCGGCTCCCAGT	0.408			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				C|||	10	0.00199681	0.0076	0.0	5008	,	,		19744	0.0		0.0	False		,,,				2504	0.0						yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)						C		11,4395	15.5+/-35.6	1,9,2193	61.0	65.0	64.0		1869	-1.5	1.0	2	dbSNP_134	64	0,8598		0,0,4299	no	coding-synonymous	MSH6	NM_000179.2		1,9,6492	TT,TC,CC		0.0,0.2497,0.0846		623/1361	48026991	11,12993	2203	4299	6502	SO:0001819	synonymous_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1869C>T	2.37:g.48026991C>T			B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Silent	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom	p.P623	ENST00000234420.5	37	c.1869	CCDS1836.1	2																																																																																			MSH6	-	pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom,pirsf_DNA_mismatch_repair_Msh6	ENSG00000116062		0.408	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4		0.00	39	0	C	NM_000179		48026991	+1			no_errors	ENST00000234420	ensembl	human	known	74_37	silent	6.67	28	2	SNP	0.271	T
MT-ND2	4536	genome.wustl.edu	37	M	2701	2701	+	5'Flank	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chrM:2701G>A	ENST00000361453.3	+	0	0				MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						cgtgaagaggcgggcatgaca	0.443																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2701G>A	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	-	NULL	ENST00000361453.3	37	NULL		MT																																																																																			MT-RNR2	-	-	ENSG00000210082		0.443	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	HGNC	protein_coding		-	0.00	1328	0	G	YP_003024027		2701	+1	tier1	-	no_errors	ENST00000387347	ensembl	human	known	74_37	rna	46.84	258	230	SNP	NULL	A
MT-CO1	4512	genome.wustl.edu	37	M	5997	5997	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chrM:5997G>T	ENST00000361624.2	+	1	94	c.94G>T	c.(94-96)Gct>Tct	p.A32S	MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	32					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TCCTAGGCACAGCTCTAAGCC	0.502																																																	0																																										SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.94G>T	M.37:g.5997G>T	ENSP00000354499:p.Ala32Ser		Q34770	Missense_Mutation	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.A32S	ENST00000361624.2	37	c.94		MT																																																																																			MT-CO1	-	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom	ENSG00000198804		0.502	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	HGNC	protein_coding		-	0.00	54	0	G	YP_003024028		5997	+1	tier1	-	no_errors	ENST00000361624	ensembl	human	known	74_37	missense	13.33	13	2	SNP	NULL	T
MTMR11	10903	genome.wustl.edu	37	1	149904175	149904175	+	Nonsense_Mutation	SNP	G	G	A	rs150224850		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:149904175G>A	ENST00000439741.2	-	11	1283	c.1033C>T	c.(1033-1035)Cga>Tga	p.R345*	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Nonsense_Mutation_p.R273*|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000406732.3_Nonsense_Mutation_p.R317*	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	345	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TCCAGCCATCGTGTTCCTTCC	0.448																																																	0								G	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	193.0	183.0	186.0		1033,817	4.3	1.0	1	dbSNP_134	186	0,8600		0,0,4300	no	stop-gained,stop-gained	MTMR11	NM_001145862.1,NM_181873.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	345/710,273/641	149904175	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1033C>T	1.37:g.149904175G>A	ENSP00000391668:p.Arg345*		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Nonsense_Mutation	SNP	pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom	p.R345*	ENST00000439741.2	37	c.1033	CCDS53360.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.531166	0.98342	2.27E-4	0.0	ENSG00000014914	ENST00000369140;ENST00000439741;ENST00000406732;ENST00000405710	.	.	.	5.28	4.31	0.51392	.	0.144797	0.47852	D	0.000213	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1215	0.72447	0.0:0.0:0.8492:0.1508	.	.	.	.	X	273;345;317;187	.	ENSP00000358136:R273X	R	-	1	2	MTMR11	148170799	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.992000	0.70609	2.746000	0.94184	0.655000	0.94253	CGA	MTMR11	-	NULL	ENSG00000014914		0.448	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR11	HGNC	protein_coding			0.00	21	0	G	NM_181873		149904175	-1			no_errors	ENST00000439741	ensembl	human	known	74_37	nonsense	8.00	23	2	SNP	1.000	A
MTNR1A	4543	genome.wustl.edu	37	4	187455431	187455431	+	Silent	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr4:187455431C>T	ENST00000307161.5	-	2	666	c.465G>A	c.(463-465)acG>acA	p.T155T	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	155					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CGGCCGCCAGCGTCAGGAGCC	0.592																																																	0													138.0	102.0	114.0					4																	187455431		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"""GPCR / Class A : Melatonin receptors"""	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.465G>A	4.37:g.187455431C>T			A0AVC5|B0M0L2	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_Mel_1A_rcpt,prints_NPY_rcpt,prints_Mel_rcpt_1C	p.T155	ENST00000307161.5	37	c.465	CCDS3848.1	4																																																																																			MTNR1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000168412		0.592	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTNR1A	HGNC	protein_coding	OTTHUMT00000360189.1	-	0.00	38	0	C			187455431	-1	tier1	-	no_errors	ENST00000307161	ensembl	human	known	74_37	silent	25.00	27	9	SNP	0.000	T
MUC12	10071	genome.wustl.edu	37	7	100634688	100634688	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr7:100634688C>T	ENST00000379442.3	+	5	1273	c.1273C>T	c.(1273-1275)Cca>Tca	p.P425S	MUC12_ENST00000536621.1_Missense_Mutation_p.P282S			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	425	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						CCAGAGCTGGCCAAGCTCAAA	0.532																																																	0													123.0	106.0	111.0					7																	100634688		692	1591	2283	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.1273C>T	7.37:g.100634688C>T	ENSP00000368755:p.Pro425Ser		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA_dom	p.P282S	ENST00000379442.3	37	c.844		7	.	.	.	.	.	.	.	.	.	.	-	3.056	-0.194266	0.06259	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.14640	2.5;2.49	0.713	-0.364	0.12553	.	.	.	.	.	T	0.04770	0.0129	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.42783	-0.9431	7	0.02654	T	1	.	6.3631	0.21439	0.0:0.7772:0.0:0.2228	.	.	.	.	S	425;282	ENSP00000368755:P425S;ENSP00000441929:P282S	ENSP00000368755:P425S	P	+	1	0	MUC12	100421408	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.382000	0.07408	-0.533000	0.06323	-1.109000	0.02080	CCA	MUC12	-	NULL	ENSG00000205277		0.532	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	-	0.00	74	0	C	XM_379904		100634688	+1	tier1	-	no_errors	ENST00000536621	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.001	T
MUC19	283463	genome.wustl.edu	37	12	40814062	40814062	+	5'UTR	SNP	T	T	C			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr12:40814062T>C	ENST00000454784.4	+	0	474				RP11-115F18.1_ENST00000552757.1_RNA			Q7Z5P9	MUC19_HUMAN	mucin 19, oligomeric						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				lung(2)	2						CGGCCGCATCTTTTTCTTTGA	0.358																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AY236870		12q12	2012-04-20	2006-03-14		ENSG00000205592	ENSG00000205592		"""Mucins"""	14362	protein-coding gene	gene with protein product		612170				12882755	Standard	NM_173600		Approved	FLJ35746	uc021qxa.1	Q7Z5P9	OTTHUMG00000060732	ENST00000454784.4:c.-260T>C	12.37:g.40814062T>C			Q8NA85	Missense_Mutation	SNP	pfam_VWF_type-D	p.F141L	ENST00000454784.4	37	c.421		12	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852417	0.71719	.	.	ENSG00000205592	ENST00000425730	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	T	0.72882	0.3516	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.76567	-0.2912	5	0.87932	D	0	.	12.6352	0.56679	0.0:0.0:0.0:1.0	.	.	.	.	L	141	.	ENSP00000395253:F141L	F	+	1	0	MUC19	39100329	1.000000	0.71417	0.984000	0.44739	0.458000	0.32498	4.060000	0.57477	2.031000	0.59945	0.528000	0.53228	TTT	MUC19	-	pfam_VWF_type-D	ENSG00000205592		0.358	MUC19-001	NOVEL	non_canonical_conserved|non_canonical_genome_sequence_error|basic|appris_principal	protein_coding	MUC19	HGNC	protein_coding	OTTHUMT00000384257.6	-	0.00	24	0	T	XM_003403524		40814062	+1	tier1	-	no_errors	ENST00000425730	ensembl	human	putative	74_37	missense	21.43	11	3	SNP	1.000	C
MUC2	4583	genome.wustl.edu	37	11	1093688	1093688	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr11:1093688C>T	ENST00000441003.2	+	30	5534	c.5507C>T	c.(5506-5508)cCc>cTc	p.P1836L	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Missense_Mutation_p.P124L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACGGGGCCCCCCACCCACACA	0.617																																																	0													174.0	217.0	203.0					11																	1093688		2099	4197	6296	SO:0001583	missense	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5507C>T	11.37:g.1093688C>T	ENSP00000415183:p.Pro1836Leu		Q14878	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.P1836L	ENST00000441003.2	37	c.5507		11	.	.	.	.	.	.	.	.	.	.	C	8.232	0.804856	0.16467	.	.	ENSG00000198788	ENST00000441003;ENST00000333592	T;T	0.13420	2.59;3.07	1.32	0.383	0.16239	.	.	.	.	.	T	0.09468	0.0233	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32981	-0.9886	8	0.87932	D	0	.	3.8328	0.08882	0.0:0.5556:0.0:0.4444	.	1836	E7EUV1	.	L	1836;124	ENSP00000415183:P1836L;ENSP00000331373:P124L	ENSP00000331373:P124L	P	+	2	0	MUC2	1083688	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	1.238000	0.32707	0.135000	0.18707	0.305000	0.20034	CCC	MUC2	-	NULL	ENSG00000198788		0.617	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	-	0.00	118	0	C	NM_002457		1093688	+1	tier1	-	no_errors	ENST00000441003	ensembl	human	known	74_37	missense	50.00	24	24	SNP	0.001	T
MYH14	79784	genome.wustl.edu	37	19	50783349	50783349	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:50783349G>A	ENST00000596571.1	+	28	3965	c.3965G>A	c.(3964-3966)cGt>cAt	p.R1322H	MYH14_ENST00000262269.8_Missense_Mutation_p.R1363H|MYH14_ENST00000440075.2_Missense_Mutation_p.R1363H|MYH14_ENST00000601313.1_Missense_Mutation_p.R1363H|MYH14_ENST00000598205.1_Missense_Mutation_p.R1330H|MYH14_ENST00000425460.1_Missense_Mutation_p.R1330H|MYH14_ENST00000376970.2_Missense_Mutation_p.R1355H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1322					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AAAACCATCCGTCTTAGCAAG	0.612																																																	0													56.0	64.0	61.0					19																	50783349		2181	4265	6446	SO:0001583	missense	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.3965G>A	19.37:g.50783349G>A	ENSP00000472819:p.Arg1322His		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1363H	ENST00000596571.1	37	c.4088	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728113	0.69074	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000262269	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	3.38	3.38	0.38709	Myosin tail (1);	.	.	.	.	T	0.79828	0.4513	L	0.50333	1.59	0.34404	D	0.695581	D;D;D	0.67145	0.996;0.99;0.993	P;P;P	0.59703	0.862;0.86;0.781	D	0.83720	0.0192	9	0.87932	D	0	.	6.7016	0.23229	0.1313:0.0:0.8686:0.0	.	1363;1322;1330	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	H	1322;1363;1355;1330;1363	ENSP00000406273:R1363H;ENSP00000366169:R1355H;ENSP00000407879:R1330H;ENSP00000262269:R1363H	ENSP00000262269:R1363H	R	+	2	0	MYH14	55475161	1.000000	0.71417	0.999000	0.59377	0.760000	0.43138	5.762000	0.68809	1.922000	0.55676	0.455000	0.32223	CGT	MYH14	-	pfam_Myosin_tail	ENSG00000105357		0.612	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	-	0.00	122	0	G	NM_024729		50783349	+1	tier1	-	no_errors	ENST00000262269	ensembl	human	known	74_37	missense	8.33	76	7	SNP	1.000	A
NACA	4666	genome.wustl.edu	37	12	57111073	57111073	+	Missense_Mutation	SNP	T	T	C			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr12:57111073T>C	ENST00000454682.1	-	3	4522	c.4241A>G	c.(4240-4242)aAg>aGg	p.K1414R	NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1414	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGCTGGAGCCTTTTTGGGGGA	0.592			T	BCL6	NHL																																			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													23.0	24.0	24.0					12																	57111073		1567	3581	5148	SO:0001583	missense	0			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.4241A>G	12.37:g.57111073T>C	ENSP00000403817:p.Lys1414Arg			Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom	p.K1414R	ENST00000454682.1	37	c.4241		12	.	.	.	.	.	.	.	.	.	.	T	7.379	0.628419	0.14257	.	.	ENSG00000196531	ENST00000454682	T	0.50548	0.74	2.49	-1.14	0.09741	.	.	.	.	.	T	0.26268	0.0641	.	.	.	0.09310	N	1	B	0.22346	0.068	B	0.12837	0.008	T	0.18840	-1.0324	7	.	.	.	.	6.4071	0.21670	0.0:0.3851:0.0:0.6149	.	1414	E9PAV3	.	R	1414	ENSP00000403817:K1414R	.	K	-	2	0	NACA	55397340	0.015000	0.18098	0.003000	0.11579	0.394000	0.30568	-0.337000	0.07852	-0.107000	0.12088	0.240000	0.17902	AAG	NACA	-	NULL	ENSG00000196531		0.592	NACA-201	KNOWN	basic	protein_coding	NACA	HGNC	protein_coding		-	0.00	121	0	T	NM_005594		57111073	-1	tier1	-	no_errors	ENST00000454682	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.002	C
NANS	54187	genome.wustl.edu	37	9	100845271	100845271	+	Silent	SNP	T	T	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr9:100845271T>A	ENST00000210444.5	+	6	1084	c.1014T>A	c.(1012-1014)acT>acA	p.T338T	NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000375098.3_Intron|TRIM14_ENST00000478530.1_Intron	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	338	AFP-like. {ECO:0000255|PROSITE- ProRule:PRU00021}.				lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				TCCTGGTCACTGTTGAAGAGG	0.428																																																	0													96.0	92.0	93.0					9																	100845271		2203	4300	6503	SO:0001819	synonymous_variant	0			AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"""sialic acid synthase"""	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.1014T>A	9.37:g.100845271T>A			B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Silent	SNP	pfam_Neu5Ac_N,pfam_SAF,superfamily_AFP_Neu5c_C,smart_SAF,pfscan_AFP_Neu5c_C,prints_Antifreeze_III	p.T338	ENST00000210444.5	37	c.1014	CCDS6733.1	9																																																																																			NANS	-	pfam_SAF,superfamily_AFP_Neu5c_C,smart_SAF,pfscan_AFP_Neu5c_C,prints_Antifreeze_III	ENSG00000095380		0.428	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NANS	HGNC	protein_coding	OTTHUMT00000053359.1	-	0.00	44	0	T	NM_018946		100845271	+1	tier1	-	no_errors	ENST00000210444	ensembl	human	known	74_37	silent	26.19	31	11	SNP	0.092	A
NCAN	1463	genome.wustl.edu	37	19	19338453	19338453	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:19338453C>T	ENST00000252575.6	+	8	2123	c.2024C>T	c.(2023-2025)aCc>aTc	p.T675I	NCAN_ENST00000538881.1_Missense_Mutation_p.T126I	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	675					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GCTGCAGAGACCAAGGTGTAT	0.607																																																	0													94.0	98.0	97.0					19																	19338453		2203	4300	6503	SO:0001583	missense	0			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2024C>T	19.37:g.19338453C>T	ENSP00000252575:p.Thr675Ile		Q9UPK6	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link,prints_AntifreezeII	p.T675I	ENST00000252575.6	37	c.2024	CCDS12397.1	19	.	.	.	.	.	.	.	.	.	.	C	1.711	-0.499122	0.04291	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.85702	-1.86;-2.02	3.15	-2.0	0.07433	.	0.929154	0.08850	N	0.884559	T	0.65196	0.2668	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.50021	-0.8876	10	0.33141	T	0.24	.	3.5027	0.07679	0.0:0.3932:0.2001:0.4067	.	689;675	Q4LE67;O14594	.;NCAN_HUMAN	I	689;675;126	ENSP00000252575:T675I;ENSP00000442202:T126I	ENSP00000252575:T675I	T	+	2	0	NCAN	19199453	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.420000	0.07062	-0.276000	0.09206	0.491000	0.48974	ACC	NCAN	-	NULL	ENSG00000130287		0.607	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	HGNC	protein_coding	OTTHUMT00000460111.2	-	0.00	81	0	C	NM_004386		19338453	+1	tier1	-	no_errors	ENST00000252575	ensembl	human	known	74_37	missense	36.00	32	18	SNP	0.000	T
NCAPD3	23310	genome.wustl.edu	37	11	134054839	134054839	+	Missense_Mutation	SNP	A	A	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr11:134054839A>T	ENST00000534548.2	-	18	2358	c.2294T>A	c.(2293-2295)aTt>aAt	p.I765N	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	765					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ATGCTTTGCAATATGCCCAAT	0.438																																																	0													314.0	321.0	319.0					11																	134054839		2201	4297	6498	SO:0001583	missense	0			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2294T>A	11.37:g.134054839A>T	ENSP00000433681:p.Ile765Asn		A6NFS2|Q4KMQ9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_NCAPD3	p.I765N	ENST00000534548.2	37	c.2294	CCDS31723.1	11	.	.	.	.	.	.	.	.	.	.	A	17.29	3.352728	0.61293	.	.	ENSG00000151503	ENST00000534548	T	0.69806	-0.43	5.86	4.74	0.60224	Armadillo-like helical (1);Armadillo-type fold (1);	0.144054	0.64402	D	0.000007	T	0.60327	0.2260	M	0.69823	2.125	0.80722	D	1	P	0.39940	0.696	B	0.32022	0.139	T	0.61272	-0.7096	10	0.45353	T	0.12	-16.9423	10.3709	0.44053	0.9264:0.0:0.0736:0.0	.	765	P42695	CNDD3_HUMAN	N	765	ENSP00000433681:I765N	ENSP00000431612:I765N	I	-	2	0	NCAPD3	133560049	1.000000	0.71417	0.930000	0.37139	0.973000	0.67179	6.057000	0.71119	1.055000	0.40461	0.533000	0.62120	ATT	NCAPD3	-	superfamily_ARM-type_fold,pirsf_NCAPD3	ENSG00000151503		0.438	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2	-	0.00	36	0	A	NM_015261		134054839	-1	tier1	-	no_errors	ENST00000534548	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	T
NEB	4703	genome.wustl.edu	37	2	152432749	152432749	+	Silent	SNP	C	C	T	rs531949723	byFrequency	TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:152432749C>T	ENST00000172853.10	-	78	11868	c.11721G>A	c.(11719-11721)acG>acA	p.T3907T	NEB_ENST00000409198.1_Silent_p.T3907T|NEB_ENST00000427231.2_Silent_p.T5608T|NEB_ENST00000603639.1_Silent_p.T5608T|NEB_ENST00000604864.1_Silent_p.T5608T|NEB_ENST00000397345.3_Silent_p.T5608T			P20929	NEBU_HUMAN	nebulin	3907					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)		TCACCACAGGCGTCCGATAGA	0.443													C|||	2	0.000399361	0.0	0.0	5008	,	,		9308	0.0		0.0	False		,,,				2504	0.002																0													68.0	71.0	70.0					2																	152432749		1893	4119	6012	SO:0001819	synonymous_variant	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.11721G>A	2.37:g.152432749C>T			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	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.T5608	ENST00000172853.10	37	c.16824		2																																																																																			NEB	-	smart_Nebulin_35r-motif	ENSG00000183091		0.443	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0.00	46	0	C	NM_004543		152432749	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	60.53	15	23	SNP	0.731	T
NKPD1	284353	genome.wustl.edu	37	19	45656300	45656300	+	Silent	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:45656300G>A	ENST00000438936.2	-	3	940	c.729C>T	c.(727-729)taC>taT	p.Y243Y	NKPD1_ENST00000429338.1_Silent_p.Y243Y|NKPD1_ENST00000589776.1_Silent_p.Y243Y|AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000317951.4_Silent_p.Y465Y			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	243	KAP NTPase.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CGCGCTCCGGGTAGCACGTGT	0.657																																																	0													11.0	13.0	12.0					19																	45656300		2132	4236	6368	SO:0001819	synonymous_variant	0			AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.729C>T	19.37:g.45656300G>A			B7ZLG6|D6RH15|Q8N2A2	Silent	SNP	pfam_KAP_NTPase	p.Y465	ENST00000438936.2	37	c.1395		19																																																																																			NKPD1	-	pfam_KAP_NTPase	ENSG00000179846		0.657	NKPD1-001	KNOWN	basic	protein_coding	NKPD1	HGNC	protein_coding	OTTHUMT00000360950.2	-	0.00	48	0	G	NM_198478		45656300	-1	tier1	-	no_errors	ENST00000317951	ensembl	human	known	74_37	silent	27.27	16	6	SNP	0.999	A
NOA1	84273	genome.wustl.edu	37	4	57834566	57834566	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr4:57834566C>T	ENST00000264230.4	-	4	2868	c.1631G>A	c.(1630-1632)cGc>cAc	p.R544H		NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	544					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										GAAATCTATGCGGCCTATAGC	0.353																																																	0													66.0	70.0	68.0					4																	57834566		2203	4300	6503	SO:0001583	missense	0			AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1631G>A	4.37:g.57834566C>T	ENSP00000264230:p.Arg544His		Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.R544H	ENST00000264230.4	37	c.1631	CCDS3510.1	4	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693439	0.88735	.	.	ENSG00000084092	ENST00000264230	T	0.50277	0.75	5.93	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.74068	0.3668	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80589	-0.1315	10	0.87932	D	0	.	14.6581	0.68850	0.0:0.9296:0.0:0.0704	.	544	Q8NC60	CD014_HUMAN	H	544	ENSP00000264230:R544H	ENSP00000264230:R544H	R	-	2	0	C4orf14	57529323	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.337000	0.65941	1.506000	0.48736	0.563000	0.77884	CGC	NOA1	-	NULL	ENSG00000084092		0.353	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOA1	HGNC	protein_coding	OTTHUMT00000250694.2	-	0.00	59	0	C	NM_032313		57834566	-1	tier1	-	no_errors	ENST00000264230	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T
NOL6	65083	genome.wustl.edu	37	9	33462777	33462777	+	Missense_Mutation	SNP	C	C	T	rs138187500		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr9:33462777C>T	ENST00000455041.2	-	25	3229	c.3170G>A	c.(3169-3171)cGa>cAa	p.R1057Q	NOL6_ENST00000379471.2_Intron|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	1109					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CTCCCCACCTCGAGACATCAC	0.577																																																	0								C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	148.0	126.0	134.0		3326,1985	-0.9	0.0	9	dbSNP_134	134	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	NOL6	NM_022917.4,NM_139235.3	43,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	1109/1147,662/700	33462777	2,13004	2203	4300	6503	SO:0001583	missense	0			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000455041.2:c.3170G>A	9.37:g.33462777C>T	ENSP00000395915:p.Arg1057Gln		Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	pfam_Nrap	p.R1109Q	ENST00000455041.2	37	c.3326		9	.	.	.	.	.	.	.	.	.	.	C	0.596	-0.830905	0.02713	0.0	2.33E-4	ENSG00000165271	ENST00000353159;ENST00000379470;ENST00000297990;ENST00000541373;ENST00000455041	T;T;T	0.39997	1.05;1.56;1.55	5.61	-0.945	0.10388	.	0.862322	0.10320	N	0.688938	T	0.23054	0.0557	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.27123	-1.0083	10	0.15952	T	0.53	.	6.0351	0.19702	0.1196:0.3644:0.0:0.5159	.	1057;1106;662;1109	B4DF80;Q9H6R4-4;Q9H6R4-3;Q9H6R4	.;.;.;NOL6_HUMAN	Q	662;163;1109;665;1057	ENSP00000313978:R662Q;ENSP00000297990:R1109Q;ENSP00000395915:R1057Q	ENSP00000297990:R1109Q	R	-	2	0	NOL6	33452777	0.006000	0.16342	0.002000	0.10522	0.083000	0.17756	0.153000	0.16323	-0.415000	0.07484	-0.492000	0.04666	CGA	NOL6	-	pfam_Nrap	ENSG00000165271		0.577	NOL6-201	KNOWN	basic	protein_coding	NOL6	HGNC	protein_coding		-	0.00	31	0	C	NM_022917		33462777	-1	tier1	rs138187500	no_errors	ENST00000297990	ensembl	human	known	74_37	missense	12.20	36	5	SNP	0.001	T
NRXN3	9369	genome.wustl.edu	37	14	78709770	78709770	+	IGR	SNP	C	C	G			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr14:78709770C>G								RNA5SP388 (65506 upstream) : RP11-332E19.2 (36144 downstream)																							CTGGCACTTCCTCATGGTGAG	0.637																																																	0													13.0	11.0	12.0					14																	78709770		875	1985	2860	SO:0001628	intergenic_variant	0																															14.37:g.78709770C>G				Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G	p.L112V		37	c.334		14	.	.	.	.	.	.	.	.	.	.	C	7.680	0.688871	0.14973	.	.	ENSG00000021645	ENST00000330071;ENST00000332068	.	.	.	5.96	3.09	0.35607	.	.	.	.	.	T	0.61949	0.2388	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56691	-0.7937	4	.	.	.	.	11.5569	0.50752	0.0:0.5834:0.3533:0.0632	.	.	.	.	V	112	.	.	L	+	1	0	NRXN3	77779523	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.436000	0.34980	0.385000	0.24970	0.650000	0.86243	CTC	NRXN3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000021645	0	0.637					NRXN3	HGNC			-	0.00	26	0	C			78709770	+1	tier1	-	no_errors	ENST00000554738	ensembl	human	known	74_37	missense	28.00	18	7	SNP	1.000	G
NRXN3	9369	genome.wustl.edu	37	14	79175585	79175585	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr14:79175585G>A	ENST00000554719.1	+	4	619	c.128G>A	c.(127-129)cGt>cAt	p.R43H	RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.R43H	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.R43L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AATGACATCCGTCTGGAGCTG	0.468																																																	1	Substitution - Missense(1)	endometrium(1)											79.0	80.0	80.0					14																	79175585		2203	4300	6503	SO:0001583	missense	0			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.128G>A	14.37:g.79175585G>A	ENSP00000451648:p.Arg43His		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G	p.R414H	ENST00000554719.1	37	c.1241	CCDS9870.1	14	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403088	0.83230	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.79247	-1.25;-1.25	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.059807	0.64402	D	0.000003	D	0.88314	0.6403	.	.	.	0.52099	D	0.999946	D;D	0.76494	0.999;0.994	D;P	0.71184	0.972;0.686	D	0.87919	0.2702	8	.	.	.	.	19.4379	0.94804	0.0:0.0:1.0:0.0	.	416;43	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	H	416;414;43;43	ENSP00000451648:R43H;ENSP00000338349:R43H	.	R	+	2	0	NRXN3	78245338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.606000	0.88127	0.563000	0.77884	CGT	NRXN3	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000021645		0.468	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413787.1		0.00	42	0	G	NM_001105250		79175585	+1			no_errors	ENST00000554738	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	A
NUP188	23511	genome.wustl.edu	37	9	131765723	131765723	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr9:131765723G>T	ENST00000372577.2	+	38	4445	c.4424G>T	c.(4423-4425)cGt>cTt	p.R1475L	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1475					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CAGCTCATGCGTGATATCCAG	0.567																																																	0													86.0	83.0	84.0					9																	131765723		2203	4300	6503	SO:0001583	missense	0			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4424G>T	9.37:g.131765723G>T	ENSP00000361658:p.Arg1475Leu		Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.R1475L	ENST00000372577.2	37	c.4424	CCDS35156.1	9	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528533	0.44969	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.26373	1.74	5.8	5.8	0.92144	.	0.355088	0.28706	N	0.014401	T	0.25754	0.0627	L	0.51422	1.61	0.30003	N	0.81585	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.11275	-1.0594	10	0.62326	D	0.03	-0.4508	12.3594	0.55194	0.0761:0.0:0.9239:0.0	.	808;1475	E9PET9;Q5SRE5	.;NU188_HUMAN	L	1364;1475	ENSP00000361658:R1475L	ENSP00000349125:R1364L	R	+	2	0	NUP188	130805544	0.993000	0.37304	0.881000	0.34555	0.980000	0.70556	3.030000	0.49720	2.758000	0.94735	0.561000	0.74099	CGT	NUP188	-	NULL	ENSG00000095319		0.567	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	-	0.00	42	0	G			131765723	+1	tier1	-	no_errors	ENST00000372577	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.444	T
NUP210	23225	genome.wustl.edu	37	3	13363115	13363115	+	Frame_Shift_Del	DEL	A	A	-			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:13363115delA	ENST00000254508.5	-	36	5218	c.5136delT	c.(5134-5136)tttfs	p.F1712fs		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1712					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCGGGGCACCAAAGACCCTGA	0.617																																																	0													84.0	87.0	86.0					3																	13363115		2203	4300	6503	SO:0001589	frameshift_variant	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.5136delT	3.37:g.13363115delA	ENSP00000254508:p.Phe1712fs		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Frame_Shift_Del	DEL	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.F1712fs	ENST00000254508.5	37	c.5136	CCDS33704.1	3																																																																																			NUP210	-	NULL	ENSG00000132182		0.617	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1		0.00	41	0	A	NM_024923		13363115	-1	tier1		no_errors	ENST00000254508	ensembl	human	known	74_37	frame_shift_del	16.67	10	2	DEL	0.997	-
NYAP2	57624	genome.wustl.edu	37	2	226447741	226447741	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:226447741G>T	ENST00000272907.6	+	4	2021	c.1608G>T	c.(1606-1608)gaG>gaT	p.E536D	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	536					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GCTCCAAAGAGCCTGCAGAGA	0.647																																																	0													12.0	13.0	12.0					2																	226447741		1869	4013	5882	SO:0001583	missense	0			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1608G>T	2.37:g.226447741G>T	ENSP00000272907:p.Glu536Asp		A2RRN4|Q96NL2	Missense_Mutation	SNP	NULL	p.E536D	ENST00000272907.6	37	c.1608	CCDS46529.1	2	.	.	.	.	.	.	.	.	.	.	G	8.715	0.912895	0.17907	.	.	ENSG00000144460	ENST00000272907	T	0.35236	1.32	5.63	-5.03	0.02973	.	0.225316	0.43919	N	0.000519	T	0.25344	0.0616	L	0.49350	1.555	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.004	T	0.01925	-1.1246	10	0.37606	T	0.19	-21.2917	10.0598	0.42268	0.6432:0.1024:0.2544:0.0	.	50;536	Q9P242-3;Q9P242	.;K1486_HUMAN	D	536	ENSP00000272907:E536D	ENSP00000272907:E536D	E	+	3	2	KIAA1486	226155985	0.817000	0.29147	0.129000	0.21949	0.477000	0.33069	-0.004000	0.12878	-0.880000	0.03997	-0.302000	0.09304	GAG	NYAP2	-	NULL	ENSG00000144460		0.647	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYAP2	HGNC	protein_coding	OTTHUMT00000331258.1	-	0.00	54	0	G	NM_020864		226447741	+1	tier1	-	no_errors	ENST00000272907	ensembl	human	known	74_37	missense	30.77	18	8	SNP	0.880	T
ODF3B	440836	genome.wustl.edu	37	22	50970479	50970479	+	Frame_Shift_Del	DEL	A	A	-			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr22:50970479delA	ENST00000428989.2	-	1	27	c.28delT	c.(28-30)tggfs	p.W10fs	TYMP_ENST00000395681.1_5'Flank|TYMP_ENST00000252029.3_5'Flank|ODF3B_ENST00000401779.1_Frame_Shift_Del_p.W10fs|ODF3B_ENST00000405135.1_Frame_Shift_Del_p.W10fs|TYMP_ENST00000395678.3_5'Flank|TYMP_ENST00000395680.1_5'Flank|ODF3B_ENST00000329363.4_Frame_Shift_Del_p.W10fs|ODF3B_ENST00000403326.1_Frame_Shift_Del_p.W10fs			A8MYP8	ODF3B_HUMAN	outer dense fiber of sperm tails 3B	10										lung(2)	2						TGTGGCCGCCAAAGGCCCACC	0.751																																																	0													3.0	3.0	3.0					22																	50970479		1531	3469	5000	SO:0001589	frameshift_variant	0				CCDS43039.1	22q13.33	2008-10-24			ENSG00000177989	ENSG00000177989			34388	protein-coding gene	gene with protein product							Standard	NM_001014440		Approved		uc003bmh.2	A8MYP8	OTTHUMG00000150334	ENST00000428989.2:c.28delT	22.37:g.50970479delA	ENSP00000390712:p.Trp10fs		A0PK18	Frame_Shift_Del	DEL	pfam_SHIPPO-rpt	p.W10fs	ENST00000428989.2	37	c.28	CCDS43039.1	22																																																																																			ODF3B	-	NULL	ENSG00000177989		0.751	ODF3B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ODF3B	HGNC	protein_coding	OTTHUMT00000317626.2		0.00	16	0	A			50970479	-1	tier1		no_errors	ENST00000329363	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	0.954	-
OR14C36	127066	genome.wustl.edu	37	1	248512782	248512782	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:248512782delT	ENST00000317861.1	+	1	706	c.706delT	c.(706-708)tttfs	p.F236fs		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						AACAAAGGCCTTTTCCACCTG	0.532																																																	0													214.0	147.0	170.0					1																	248512782		2203	4300	6503	SO:0001589	frameshift_variant	0			BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.706delT	1.37:g.248512782delT	ENSP00000324534:p.Phe236fs		Q6IEZ6	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S237fs	ENST00000317861.1	37	c.706	CCDS31112.1	1																																																																																			OR14C36	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000177174		0.532	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14C36	HGNC	protein_coding	OTTHUMT00000097359.1		0.00	19	0	T	NM_001001918		248512782	+1	tier1		no_errors	ENST00000317861	ensembl	human	known	74_37	frame_shift_del	15.38	11	2	DEL	0.998	-
OR2T6	254879	genome.wustl.edu	37	1	248551111	248551111	+	Missense_Mutation	SNP	G	G	A	rs182818153		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:248551111G>A	ENST00000355728.2	+	1	202	c.202G>A	c.(202-204)Gtc>Atc	p.V68I		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCACCTCTCCGTCATTGACAC	0.498																																																	0													207.0	160.0	176.0					1																	248551111		2203	4300	6503	SO:0001583	missense	0			AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.202G>A	1.37:g.248551111G>A	ENSP00000347965:p.Val68Ile		A6NE36	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.V68I	ENST00000355728.2	37	c.202	CCDS31114.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.609	-0.825809	0.02734	.	.	ENSG00000198104	ENST00000355728	T	0.00551	6.65	4.38	-8.75	0.00834	GPCR, rhodopsin-like superfamily (1);	0.807607	0.10778	N	0.635167	T	0.00300	0.0009	N	0.11927	0.2	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42816	-0.9429	10	0.38643	T	0.18	.	7.4264	0.27102	0.0849:0.4788:0.2599:0.1764	.	68	Q8NHC8	OR2T6_HUMAN	I	68	ENSP00000347965:V68I	ENSP00000347965:V68I	V	+	1	0	OR2T6	246617734	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.413000	0.02473	-3.461000	0.00159	-2.248000	0.00284	GTC	OR2T6	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198104		0.498	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T6	HGNC	protein_coding	OTTHUMT00000097344.1		0.00	42	0	G	NM_001005471		248551111	+1			no_errors	ENST00000355728	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.000	A
OR2V2	285659	genome.wustl.edu	37	5	180582374	180582374	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr5:180582374G>C	ENST00000328275.1	+	1	432	c.432G>C	c.(430-432)caG>caC	p.Q144H		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGTCTCCAGATTACTGGGA	0.512																																																	0													119.0	116.0	117.0					5																	180582374		2203	4300	6503	SO:0001583	missense	0			AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"""GPCR / Class A : Olfactory receptors"""	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.432G>C	5.37:g.180582374G>C	ENSP00000332185:p.Gln144His		Q6IFL6|Q8NGV1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q144H	ENST00000328275.1	37	c.432	CCDS4461.1	5	.	.	.	.	.	.	.	.	.	.	.	12.92	2.081498	0.36758	.	.	ENSG00000182613	ENST00000328275	T	0.00137	8.68	3.27	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	0.531889	0.14210	N	0.334106	T	0.00241	0.0007	L	0.31926	0.97	0.31986	N	0.605239	D	0.53462	0.96	P	0.59546	0.859	T	0.65738	-0.6095	10	0.52906	T	0.07	.	8.6206	0.33859	0.1205:0.0:0.8795:0.0	.	144	Q96R30	OR2V2_HUMAN	H	144	ENSP00000332185:Q144H	ENSP00000332185:Q144H	Q	+	3	2	OR2V2	180514980	0.002000	0.14202	0.945000	0.38365	0.592000	0.36648	1.117000	0.31234	0.700000	0.31782	-0.680000	0.03767	CAG	OR2V2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000182613		0.512	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2V2	HGNC	protein_coding	OTTHUMT00000253529.1	-	0.00	85	0	G			180582374	+1	tier1	-	no_errors	ENST00000328275	ensembl	human	known	74_37	missense	13.95	37	6	SNP	0.936	C
OR2W1	26692	genome.wustl.edu	37	6	29012060	29012060	+	Missense_Mutation	SNP	T	T	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr6:29012060T>A	ENST00000377175.1	-	1	957	c.893A>T	c.(892-894)aAg>aTg	p.K298M		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CAGGGCATCCTTCATGTCCTT	0.403																																																	0													51.0	47.0	48.0					6																	29012060		1511	2709	4220	SO:0001583	missense	0			AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.893A>T	6.37:g.29012060T>A	ENSP00000366380:p.Lys298Met		B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K298M	ENST00000377175.1	37	c.893	CCDS4656.1	6	.	.	.	.	.	.	.	.	.	.	T	16.63	3.177307	0.57692	.	.	ENSG00000204704	ENST00000377175	T	0.40756	1.02	4.79	4.79	0.61399	.	0.000000	0.53938	D	0.000056	T	0.42743	0.1216	L	0.46614	1.455	0.34620	D	0.718534	D	0.89917	1.0	D	0.72075	0.976	T	0.52609	-0.8553	10	0.87932	D	0	.	8.693	0.34278	0.0:0.092:0.0:0.908	.	298	Q9Y3N9	OR2W1_HUMAN	M	298	ENSP00000366380:K298M	ENSP00000366380:K298M	K	-	2	0	OR2W1	29120039	0.001000	0.12720	1.000000	0.80357	0.971000	0.66376	0.782000	0.26788	1.766000	0.52107	0.482000	0.46254	AAG	OR2W1	-	pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_GPCR_Rhodpsn	ENSG00000204704		0.403	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2W1	HGNC	protein_coding	OTTHUMT00000076053.2	-	0.00	35	0	T			29012060	-1	tier1	-	no_errors	ENST00000377175	ensembl	human	known	74_37	missense	33.33	27	14	SNP	0.888	A
OR5M9	390162	genome.wustl.edu	37	11	56230099	56230099	+	Missense_Mutation	SNP	C	C	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr11:56230099C>A	ENST00000279791.1	-	1	778	c.779G>T	c.(778-780)aGa>aTa	p.R260I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CTCAGTGGGTCTCCTGAGATA	0.498																																																	0													67.0	61.0	63.0					11																	56230099		2201	4296	6497	SO:0001583	missense	0			AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.779G>T	11.37:g.56230099C>A	ENSP00000279791:p.Arg260Ile		Q6IEW5|Q96RB9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R260I	ENST00000279791.1	37	c.779	CCDS31531.1	11	.	.	.	.	.	.	.	.	.	.	C	8.598	0.886256	0.17540	.	.	ENSG00000150269	ENST00000279791	T	0.00123	8.7	3.87	-0.737	0.11129	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41396	D	0.000897	T	0.00109	0.0003	N	0.25890	0.77	0.09310	N	1	P	0.41498	0.752	P	0.45794	0.493	T	0.42015	-0.9476	10	0.87932	D	0	-5.5793	2.1456	0.03786	0.3101:0.2856:0.3043:0.1	.	260	Q8NGP3	OR5M9_HUMAN	I	260	ENSP00000279791:R260I	ENSP00000279791:R260I	R	-	2	0	OR5M9	55986675	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.230000	0.09083	0.070000	0.16634	0.542000	0.68232	AGA	OR5M9	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000150269		0.498	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M9	HGNC	protein_coding	OTTHUMT00000391638.1	-	0.00	50	0	C	NM_001004743		56230099	-1	tier1	-	no_errors	ENST00000279791	ensembl	human	known	74_37	missense	25.71	26	9	SNP	0.000	A
OR6Y1	391112	genome.wustl.edu	37	1	158517456	158517456	+	Missense_Mutation	SNP	C	C	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:158517456C>A	ENST00000302617.3	-	1	439	c.440G>T	c.(439-441)gGc>gTc	p.G147V		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G147A(1)		NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGCCAGTGTGCCACAGAGCTG	0.473																																																	1	Substitution - Missense(1)	lung(1)											67.0	58.0	61.0					1																	158517456		2203	4300	6503	SO:0001583	missense	0			BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.440G>T	1.37:g.158517456C>A	ENSP00000304807:p.Gly147Val		Q6IFS0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G147V	ENST00000302617.3	37	c.440	CCDS30899.1	1	.	.	.	.	.	.	.	.	.	.	C	0.095	-1.160568	0.01686	.	.	ENSG00000197532	ENST00000302617	T	0.35048	1.33	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.159452	0.29410	N	0.012223	T	0.04182	0.0116	N	0.01446	-0.86	0.20074	N	0.999933	B	0.29212	0.237	B	0.27170	0.077	T	0.24977	-1.0145	10	0.06757	T	0.87	.	12.2129	0.54389	0.0:0.7183:0.2817:0.0	.	147	Q8NGX8	OR6Y1_HUMAN	V	147	ENSP00000304807:G147V	ENSP00000304807:G147V	G	-	2	0	OR6Y1	156784080	0.000000	0.05858	0.692000	0.30179	0.875000	0.50365	0.305000	0.19254	2.653000	0.90120	0.563000	0.77884	GGC	OR6Y1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000197532		0.473	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6Y1	HGNC	protein_coding	OTTHUMT00000051844.1	-	0.00	45	0	C	NM_001005189		158517456	-1	tier1	-	no_errors	ENST00000302617	ensembl	human	known	74_37	missense	41.03	23	16	SNP	0.002	A
OR7E94P	79273	genome.wustl.edu	37	4	80509142	80509142	+	RNA	SNP	C	C	G			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr4:80509142C>G	ENST00000601375.1	-	0	103									olfactory receptor, family 7, subfamily E, member 94 pseudogene																		TGGACAAGGACAGCCAAGCGA	0.537																																																	0																																												0			AC013662		4q21.21	2013-09-24			ENSG00000249646	ENSG00000249646		"""GPCR / Class A : Olfactory receptors"""	14789	pseudogene	pseudogene							Standard	NG_002221		Approved				OTTHUMG00000160914		4.37:g.80509142C>G				RNA	SNP	-	NULL	ENST00000601375.1	37	NULL		4																																																																																			OR7E94P	-	-	ENSG00000249646		0.537	OR7E94P-002	KNOWN	basic	processed_transcript	OR7E94P	HGNC	pseudogene	OTTHUMT00000464523.1	-	0.00	55	0	C			80509142	-1	tier1	-	no_errors	ENST00000601375	ensembl	human	known	74_37	rna	16.67	35	7	SNP	0.016	G
OVCH1	341350	genome.wustl.edu	37	12	29604479	29604479	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr12:29604479C>G	ENST00000318184.5	-	22	2553	c.2554G>C	c.(2554-2556)Gaa>Caa	p.E852Q	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	852	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CTAGGCTTTTCTAGCTCTGCT	0.438																																																	0													46.0	43.0	44.0					12																	29604479		1844	4099	5943	SO:0001583	missense	0			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2554G>C	12.37:g.29604479C>G	ENSP00000326708:p.Glu852Gln			Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.E852Q	ENST00000318184.5	37	c.2554		12	.	.	.	.	.	.	.	.	.	.	C	0.364	-0.937596	0.02340	.	.	ENSG00000187950	ENST00000318184	T	0.33865	1.39	3.02	1.1	0.20463	CUB (5);	.	.	.	.	T	0.16938	0.0407	N	0.12182	0.205	0.09310	N	1	B	0.29909	0.261	B	0.31191	0.125	T	0.26121	-1.0112	9	0.19590	T	0.45	.	4.0566	0.09819	0.0:0.6125:0.2472:0.1403	.	852	Q7RTY7	OVCH1_HUMAN	Q	852	ENSP00000326708:E852Q	ENSP00000326708:E852Q	E	-	1	0	OVCH1	29495746	0.001000	0.12720	0.001000	0.08648	0.094000	0.18550	-0.423000	0.07034	0.289000	0.22422	0.561000	0.74099	GAA	OVCH1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000187950		0.438	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	OVCH1	HGNC	protein_coding	OTTHUMT00000395997.2		0.00	27	0	C	NM_183378		29604479	-1			no_errors	ENST00000318184	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.001	G
P4HA1	5033	genome.wustl.edu	37	10	74813333	74813333	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:74813333G>T	ENST00000307116.2	-	6	595	c.479C>A	c.(478-480)tCt>tAt	p.S160Y	P4HA1_ENST00000440381.1_Missense_Mutation_p.S160Y|P4HA1_ENST00000394890.2_Missense_Mutation_p.S160Y|P4HA1_ENST00000412021.2_Missense_Mutation_p.S160Y|P4HA1_ENST00000373008.2_Missense_Mutation_p.S160Y|P4HA1_ENST00000263556.3_Missense_Mutation_p.S160Y			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	160					collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CGTTAGAAAAGATTTGTGTTT	0.393																																					Colon(147;367 2405 2662 52127)												0													69.0	68.0	69.0					10																	74813333		2203	4300	6503	SO:0001583	missense	0				CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(I)"""	176710	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"""	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.479C>A	10.37:g.74813333G>T	ENSP00000307318:p.Ser160Tyr		C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S160Y	ENST00000307116.2	37	c.479		10	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303489	0.60195	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.49432	0.8;0.8;0.8;0.8;0.8;0.78	5.02	5.02	0.67125	.	0.222293	0.44902	D	0.000407	T	0.60143	0.2246	M	0.66506	2.035	0.51767	D	0.999932	B;P;P	0.52170	0.013;0.951;0.951	B;P;P	0.52909	0.027;0.498;0.713	T	0.60255	-0.7299	10	0.37606	T	0.19	-4.6236	18.335	0.90285	0.0:0.0:1.0:0.0	.	160;160;160	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	Y	160	ENSP00000307318:S160Y;ENSP00000362099:S160Y;ENSP00000411688:S160Y;ENSP00000378353:S160Y;ENSP00000263556:S160Y;ENSP00000414464:S160Y	ENSP00000263556:S160Y	S	-	2	0	P4HA1	74483339	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.510000	0.67018	2.337000	0.79520	0.561000	0.74099	TCT	P4HA1	-	NULL	ENSG00000122884		0.393	P4HA1-001	KNOWN	basic	protein_coding	P4HA1	HGNC	protein_coding	OTTHUMT00000048601.1	-	0.00	36	0	G	NM_000917		74813333	-1	tier1	-	no_errors	ENST00000263556	ensembl	human	known	74_37	missense	27.78	26	10	SNP	1.000	T
P4HB	5034	genome.wustl.edu	37	17	79813462	79813462	+	Splice_Site	SNP	G	G	C			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr17:79813462G>C	ENST00000331483.4	-	3	575	c.353C>G	c.(352-354)gCt>gGt	p.A118G	P4HB_ENST00000576390.1_Intron|P4HB_ENST00000472244.1_5'UTR|P4HB_ENST00000439918.2_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	118	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CTCTCTGCCAGCTAACCCCAA	0.632																																					Colon(49;444 983 1296 7887 42561)												0													47.0	46.0	46.0					17																	79813462		2203	4300	6503	SO:0001630	splice_region_variant	0			J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.353-1C>G	17.37:g.79813462G>C			B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.A118G	ENST00000331483.4	37	c.353	CCDS11787.1	17	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444605	0.63178	.	.	ENSG00000185624	ENST00000331483;ENST00000537205;ENST00000436463	T	0.01854	4.6	4.42	4.42	0.53409	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.128338	0.52532	N	0.000080	T	0.00468	0.0015	N	0.00005	-3.29	0.39754	D	0.971932	B	0.06786	0.001	B	0.06405	0.002	T	0.52975	-0.8503	10	0.02654	T	1	.	17.0452	0.86500	0.0:0.0:1.0:0.0	.	118	P07237	PDIA1_HUMAN	G	118;118;102	ENSP00000327801:A118G	ENSP00000327801:A118G	A	-	2	0	P4HB	77406751	1.000000	0.71417	0.996000	0.52242	0.868000	0.49771	9.747000	0.98863	2.004000	0.58718	0.462000	0.41574	GCT	P4HB	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	ENSG00000185624		0.632	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HB	HGNC	protein_coding	OTTHUMT00000317250.3	-	0.00	88	0	G	NM_000918	Missense_Mutation	79813462	-1	tier1	-	no_errors	ENST00000331483	ensembl	human	known	74_37	missense	17.31	43	9	SNP	1.000	C
PBX1	5087	genome.wustl.edu	37	1	164529123	164529123	+	Missense_Mutation	SNP	C	C	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:164529123C>A	ENST00000420696.2	+	1	252	c.64C>A	c.(64-66)Ctg>Atg	p.L22M	PBX1_ENST00000559240.1_Missense_Mutation_p.L22M|PBX1_ENST00000540236.1_Missense_Mutation_p.L22M|PBX1_ENST00000401534.1_Missense_Mutation_p.L22M|PBX1_ENST00000485769.1_Missense_Mutation_p.L22M|PBX1_ENST00000367897.1_Missense_Mutation_p.L22M	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	22					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						ACACCCCGGCCTGTCCCAGCA	0.622			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																			Dom	yes		1	1q23	5087	pre-B-cell leukemia transcription factor 1		"""L, M"""	0													10.0	11.0	11.0					1																	164529123		2058	3995	6053	SO:0001583	missense	0			M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.64C>A	1.37:g.164529123C>A	ENSP00000405890:p.Leu22Met		B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.L22M	ENST00000420696.2	37	c.64	CCDS1246.1	1	.	.	.	.	.	.	.	.	.	.	C	2.422	-0.332967	0.05278	.	.	ENSG00000185630	ENST00000340699;ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534	T;D;D;D;D	0.87412	0.95;-2.24;-2.14;-2.25;-2.14	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000010	T	0.65502	0.2697	N	0.16743	0.435	0.09310	N	1.0	B;B;B	0.25772	0.134;0.006;0.036	B;B;B	0.15052	0.012;0.005;0.009	T	0.64664	-0.6354	9	0.12766	T	0.61	-7.6375	17.4667	0.87634	0.0:1.0:0.0:0.0	.	22;22;22	F5H4U9;P40424;Q53YC7	.;PBX1_HUMAN;.	M	22	ENSP00000341455:L22M;ENSP00000405890:L22M;ENSP00000356872:L22M;ENSP00000439943:L22M;ENSP00000384856:L22M	ENSP00000341455:L22M	L	+	1	2	PBX1	162795747	1.000000	0.71417	1.000000	0.80357	0.156000	0.22039	2.539000	0.45718	2.409000	0.81822	0.561000	0.74099	CTG	PBX1	-	NULL	ENSG00000185630		0.622	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBX1	HGNC	protein_coding	OTTHUMT00000082864.4	-	0.00	129	0	C	NM_002585		164529123	+1	tier1	-	no_errors	ENST00000420696	ensembl	human	known	74_37	missense	12.50	56	8	SNP	1.000	A
PCDH11X	27328	genome.wustl.edu	37	X	91873866	91873866	+	Frame_Shift_Del	DEL	C	C	-			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chrX:91873866delC	ENST00000373094.1	+	7	4816	c.3971delC	c.(3970-3972)acafs	p.T1325fs	PCDH11X_ENST00000298274.8_Frame_Shift_Del_p.T1288fs|PCDH11X_ENST00000373097.1_Frame_Shift_Del_p.T1315fs|PCDH11X_ENST00000361655.2_Frame_Shift_Del_p.T1307fs|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000373088.1_Frame_Shift_Del_p.T1288fs|PCDH11X_ENST00000406881.1_Frame_Shift_Del_p.T1317fs	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1325					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATTCCTTTGACAACCTTCACT	0.423																																					NSCLC(38;925 1092 2571 38200 45895)												0													159.0	147.0	151.0					X																	91873866		2203	4300	6503	SO:0001589	frameshift_variant	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3971delC	X.37:g.91873866delC	ENSP00000362186:p.Thr1325fs		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T1324fs	ENST00000373094.1	37	c.3971	CCDS14461.1	X																																																																																			PCDH11X	-	NULL	ENSG00000102290		0.423	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1		0.00	49	0	C	NM_032969		91873866	+1	tier1		no_errors	ENST00000373094	ensembl	human	known	74_37	frame_shift_del	5.56	34	2	DEL	0.419	-
PCDH20	64881	genome.wustl.edu	37	13	61986436	61986436	+	Missense_Mutation	SNP	C	C	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr13:61986436C>A	ENST00000409186.1	-	5	3901	c.1796G>T	c.(1795-1797)cGa>cTa	p.R599L	PCDH20_ENST00000409204.4_Missense_Mutation_p.R599L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	599	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TTTCTCTTCTCGGTCCAGCTG	0.458																																																	0													113.0	110.0	111.0					13																	61986436		2203	4300	6503	SO:0001583	missense	0			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1796G>T	13.37:g.61986436C>A	ENSP00000386653:p.Arg599Leu		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R599L	ENST00000409186.1	37	c.1796	CCDS9442.2	13	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090242	0.76756	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.01629	4.72;4.72	5.94	5.94	0.96194	.	0.000000	0.56097	D	0.000034	T	0.23846	0.0577	H	0.98629	4.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.45131	-0.9282	10	0.72032	D	0.01	.	20.3552	0.98837	0.0:1.0:0.0:0.0	.	599	A8K1K9	.	L	599;599;345	ENSP00000387250:R599L;ENSP00000386653:R599L	ENSP00000351500:R345L	R	-	2	0	PCDH20	60884437	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.745000	0.85046	2.812000	0.96745	0.557000	0.71058	CGA	PCDH20	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197991		0.458	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2		0.00	19	0	C	NM_022843		61986436	-1			no_errors	ENST00000409186	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	A
PDS5A	23244	genome.wustl.edu	37	4	39918704	39918704	+	Missense_Mutation	SNP	T	T	G			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr4:39918704T>G	ENST00000303538.8	-	8	1379	c.840A>C	c.(838-840)ttA>ttC	p.L280F	PDS5A_ENST00000503396.1_Missense_Mutation_p.L280F	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TGACGGATAATAATAAATGAG	0.333																																																	0													53.0	48.0	49.0					4																	39918704		1830	4082	5912	SO:0001583	missense	0			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.840A>C	4.37:g.39918704T>G	ENSP00000303427:p.Leu280Phe			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L280F	ENST00000303538.8	37	c.840	CCDS47045.1	4	.	.	.	.	.	.	.	.	.	.	T	20.3	3.973615	0.74246	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	T	0.66638	-0.22	5.71	-2.47	0.06442	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	T	0.78984	0.4370	M	0.80422	2.495	0.58432	D	0.999993	D;D	0.76494	0.999;0.999	D;D	0.97110	0.986;1.0	T	0.79087	-0.1947	9	.	.	.	-7.9562	14.4591	0.67438	0.0:0.7839:0.0:0.2161	.	280;280	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	F	280	ENSP00000303427:L280F	.	L	-	3	2	PDS5A	39595099	1.000000	0.71417	0.941000	0.38009	0.988000	0.76386	0.883000	0.28200	-0.360000	0.08138	0.528000	0.53228	TTA	PDS5A	-	superfamily_ARM-type_fold	ENSG00000121892		0.333	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	HGNC	protein_coding	OTTHUMT00000361287.1	-	0.00	48	0	T	NM_015200		39918704	-1	tier1	-	no_errors	ENST00000303538	ensembl	human	known	74_37	missense	33.33	24	12	SNP	0.984	G
PDZD8	118987	genome.wustl.edu	37	10	119043705	119043705	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:119043705G>A	ENST00000334464.5	-	5	2778	c.2539C>T	c.(2539-2541)Cag>Tag	p.Q847*	PDZD8_ENST00000482496.1_5'Flank	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	847					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TTCTGGAACTGAGTATCCTGA	0.388																																																	0													65.0	66.0	65.0					10																	119043705		2202	4300	6502	SO:0001587	stop_gained	0			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2539C>T	10.37:g.119043705G>A	ENSP00000334642:p.Gln847*		Q86WE0|Q86WE5|Q9UFF1	Nonsense_Mutation	SNP	pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.Q847*	ENST00000334464.5	37	c.2539	CCDS7600.1	10	.	.	.	.	.	.	.	.	.	.	G	39	7.578878	0.98371	.	.	ENSG00000165650	ENST00000334464	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-13.2355	19.43	0.94760	0.0:0.0:1.0:0.0	.	.	.	.	X	847	.	ENSP00000334642:Q847X	Q	-	1	0	PDZD8	119033695	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.590000	0.87494	0.563000	0.77884	CAG	PDZD8	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd	ENSG00000165650		0.388	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD8	HGNC	protein_coding	OTTHUMT00000050565.1		0.00	38	0	G	NM_173791		119043705	-1			no_errors	ENST00000334464	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	1.000	A
PDZD8	118987	genome.wustl.edu	37	10	119044395	119044395	+	Nonsense_Mutation	SNP	C	C	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:119044395C>A	ENST00000334464.5	-	5	2088	c.1849G>T	c.(1849-1851)Gaa>Taa	p.E617*	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	617	Pro-rich.				cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCTGGCTTTTCAACGAGAACA	0.493																																																	0													115.0	113.0	114.0					10																	119044395		2203	4300	6503	SO:0001587	stop_gained	0			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.1849G>T	10.37:g.119044395C>A	ENSP00000334642:p.Glu617*		Q86WE0|Q86WE5|Q9UFF1	Nonsense_Mutation	SNP	pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.E617*	ENST00000334464.5	37	c.1849	CCDS7600.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.477595	0.96291	.	.	ENSG00000165650	ENST00000334464	.	.	.	5.79	4.89	0.63831	.	0.319441	0.34603	N	0.003827	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-7.0268	14.9614	0.71158	0.0:0.9314:0.0:0.0686	.	.	.	.	X	617	.	ENSP00000334642:E617X	E	-	1	0	PDZD8	119034385	1.000000	0.71417	0.859000	0.33776	0.813000	0.45954	4.311000	0.59147	1.446000	0.47643	0.591000	0.81541	GAA	PDZD8	-	NULL	ENSG00000165650		0.493	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD8	HGNC	protein_coding	OTTHUMT00000050565.1	-	0.00	38	0	C	NM_173791		119044395	-1	tier1	-	no_errors	ENST00000334464	ensembl	human	known	74_37	nonsense	31.03	20	9	SNP	0.988	A
PFAS	5198	genome.wustl.edu	37	17	8158846	8158846	+	Silent	SNP	G	G	T	rs143291952		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr17:8158846G>T	ENST00000314666.6	+	5	544	c.411G>T	c.(409-411)gtG>gtT	p.V137V	PFAS_ENST00000545834.1_Intron	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	137					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CAGCTGAGGTGGAAGCCATTG	0.582																																																	0													63.0	58.0	60.0					17																	8158846		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.411G>T	17.37:g.8158846G>T			A6H8V8	Silent	SNP	pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth	p.V137	ENST00000314666.6	37	c.411	CCDS11136.1	17																																																																																			PFAS	-	tigrfam_PRibForGlyAmidine_synth	ENSG00000178921		0.582	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFAS	HGNC	protein_coding	OTTHUMT00000226994.2	-	0.00	60	0	G			8158846	+1	tier1	-	no_errors	ENST00000314666	ensembl	human	known	74_37	silent	34.55	36	19	SNP	0.613	T
PHKB	5257	genome.wustl.edu	37	16	47733186	47733186	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr16:47733186G>T	ENST00000323584.5	+	31	3215	c.3191G>T	c.(3190-3192)gGa>gTa	p.G1064V	PHKB_ENST00000566044.1_Missense_Mutation_p.G1057V|PHKB_ENST00000455779.1_Missense_Mutation_p.G1057V|PHKB_ENST00000299167.8_Missense_Mutation_p.G1064V	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	1064					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GGAAAAAGAGGAACATGCAGC	0.453																																																	0													172.0	156.0	161.0					16																	47733186		2201	4300	6501	SO:0001583	missense	0				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.3191G>T	16.37:g.47733186G>T	ENSP00000313504:p.Gly1064Val		Q8N4T5	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.G1064V	ENST00000323584.5	37	c.3191	CCDS10729.1	16	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345345	0.61073	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.91686	-2.89;-2.89	5.64	5.64	0.86602	.	0.116646	0.64402	D	0.000014	D	0.95252	0.8460	M	0.69248	2.105	0.80722	D	1	D;B;D	0.76494	0.989;0.059;0.999	P;B;D	0.65443	0.881;0.024;0.935	D	0.93703	0.7017	10	0.33141	T	0.24	-5.9223	19.7002	0.96049	0.0:0.0:1.0:0.0	.	305;1064;1057	B3KVX5;Q93100;Q93100-4	.;KPBB_HUMAN;.	V	1057;1057;1064	ENSP00000414345:G1057V;ENSP00000313504:G1064V	ENSP00000299167:G1057V	G	+	2	0	PHKB	46290687	1.000000	0.71417	0.995000	0.50966	0.944000	0.59088	9.295000	0.96095	2.663000	0.90544	0.650000	0.86243	GGA	PHKB	-	NULL	ENSG00000102893		0.453	PHKB-002	KNOWN	basic|CCDS	protein_coding	PHKB	HGNC	protein_coding	OTTHUMT00000430413.1	-	0.00	59	0	G			47733186	+1	tier1	-	no_errors	ENST00000299167	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T
PLBD2	196463	genome.wustl.edu	37	12	113806939	113806939	+	Silent	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr12:113806939G>A	ENST00000280800.3	+	2	340	c.309G>A	c.(307-309)ctG>ctA	p.L103L	PLBD2_ENST00000545182.2_Silent_p.L103L	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	103					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TCCTGGAGCTGGGCACAAGTG	0.597																																																	0													62.0	54.0	57.0					12																	113806939		2203	4299	6502	SO:0001819	synonymous_variant	0			BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.309G>A	12.37:g.113806939G>A			F5H5E2	Silent	SNP	pfam_PLipase_B-like	p.L103	ENST00000280800.3	37	c.309	CCDS9168.1	12																																																																																			PLBD2	-	pfam_PLipase_B-like	ENSG00000151176		0.597	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLBD2	HGNC	protein_coding	OTTHUMT00000404835.1	-	0.00	38	0	G	NM_173542		113806939	+1	tier1	-	no_errors	ENST00000280800	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.948	A
PMS2	5395	genome.wustl.edu	37	7	6035230	6035230	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr7:6035230C>G	ENST00000265849.7	-	8	943	c.838G>C	c.(838-840)Gtt>Ctt	p.V280L	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.V174L|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.V280L	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	280					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTCCTTCCAACTCCATGCGTG	0.388			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0													138.0	123.0	128.0					7																	6035230		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.838G>C	7.37:g.6035230C>G	ENSP00000265849:p.Val280Leu		B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N	p.V280L	ENST00000265849.7	37	c.838	CCDS5343.1	7	.	.	.	.	.	.	.	.	.	.	c	11.58	1.679817	0.29783	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	D;D;D	0.83506	-1.73;-1.73;-1.73	5.85	4.04	0.47022	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);	0.291939	0.32343	N	0.006232	T	0.73016	0.3533	L	0.39245	1.2	0.42178	D	0.991671	B;B;B	0.10296	0.0;0.003;0.003	B;B;B	0.06405	0.001;0.002;0.002	T	0.63844	-0.6545	10	0.25106	T	0.35	-12.255	8.0336	0.30480	0.1315:0.7334:0.0:0.135	.	280;280;174	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	L	280;233;174;280	ENSP00000265849:V280L;ENSP00000392843:V174L;ENSP00000384308:V280L	ENSP00000265849:V280L	V	-	1	0	PMS2	6001756	0.584000	0.26766	0.718000	0.30602	0.300000	0.27592	1.852000	0.39348	0.814000	0.34374	-0.188000	0.12872	GTT	PMS2	-	pfam_DNA_mismatch_repair_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N	ENSG00000122512		0.388	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS2	HGNC	protein_coding	OTTHUMT00000207353.3	-	0.00	47	0	C	NM_000535		6035230	-1	tier1	-	no_errors	ENST00000265849	ensembl	human	known	74_37	missense	50.00	15	15	SNP	0.996	G
PNPLA7	375775	genome.wustl.edu	37	9	140392584	140392584	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr9:140392584G>T	ENST00000277531.4	-	16	1982	c.1796C>A	c.(1795-1797)gCc>gAc	p.A599D	PNPLA7_ENST00000406427.1_Missense_Mutation_p.A624D|PNPLA7_ENST00000371457.1_Missense_Mutation_p.A205D	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	599					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGCTCGCCCGGCCTCCACCTC	0.632																																																	0													133.0	102.0	113.0					9																	140392584		2201	4300	6501	SO:0001583	missense	0			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1796C>A	9.37:g.140392584G>T	ENSP00000277531:p.Ala599Asp		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.A624D	ENST00000277531.4	37	c.1871	CCDS7045.1	9	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604713	0.87157	.	.	ENSG00000130653	ENST00000371457;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	4.4	4.4	0.53042	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.96321	0.8800	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97005	0.9732	10	0.87932	D	0	-25.1801	16.3125	0.82898	0.0:0.0:1.0:0.0	.	624;599	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	D	205;599;624;599;590	ENSP00000360512:A205D;ENSP00000277531:A599D;ENSP00000384610:A624D;ENSP00000400582:A590D	ENSP00000277531:A599D	A	-	2	0	PNPLA7	139512405	1.000000	0.71417	0.959000	0.39883	0.781000	0.44180	9.358000	0.97109	2.169000	0.68431	0.448000	0.29417	GCC	PNPLA7	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000130653		0.632	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA7	HGNC	protein_coding	OTTHUMT00000254787.1		0.00	42	0	G	NM_152286		140392584	-1			no_errors	ENST00000406427	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
PPP6R1	22870	genome.wustl.edu	37	19	55748329	55748329	+	Frame_Shift_Del	DEL	A	A	-			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:55748329delA	ENST00000412770.2	-	16	2327	c.1761delT	c.(1759-1761)tttfs	p.F587fs	AC010327.1_ENST00000581390.1_RNA|PPP6R1_ENST00000587283.1_Frame_Shift_Del_p.F587fs	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	587					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						CTGTCTTGTCAAAAGGTGCGC	0.572																																																	0													85.0	90.0	89.0					19																	55748329		2123	4226	6349	SO:0001589	frameshift_variant	0			AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	29195	protein-coding gene	gene with protein product		610875	"""KIAA1115"", ""SAPS domain family, member 1"""	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.1761delT	19.37:g.55748329delA	ENSP00000414202:p.Phe587fs		Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Frame_Shift_Del	DEL	pfam_SAPS,superfamily_ARM-type_fold	p.F587fs	ENST00000412770.2	37	c.1761	CCDS46186.1	19																																																																																			PPP6R1	-	superfamily_ARM-type_fold	ENSG00000105063		0.572	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP6R1	HGNC	protein_coding	OTTHUMT00000452663.1		0.00	44	0	A	NM_014931		55748329	-1	tier1		no_errors	ENST00000412770	ensembl	human	known	74_37	frame_shift_del	5.41	35	2	DEL	1.000	-
PPRC1	23082	genome.wustl.edu	37	10	103900460	103900460	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:103900460C>T	ENST00000278070.2	+	5	2234	c.2195C>T	c.(2194-2196)tCt>tTt	p.S732F	PPRC1_ENST00000413464.2_Missense_Mutation_p.S732F|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	732					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GTTGTGGATTCTCTGAAAATT	0.547																																																	0													107.0	111.0	109.0					10																	103900460		2203	4300	6503	SO:0001583	missense	0			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2195C>T	10.37:g.103900460C>T	ENSP00000278070:p.Ser732Phe		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S732F	ENST00000278070.2	37	c.2195	CCDS7529.1	10	.	.	.	.	.	.	.	.	.	.	C	9.247	1.039657	0.19669	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.24723	1.84;1.84	5.1	4.19	0.49359	.	0.847294	0.10277	N	0.694048	T	0.15046	0.0363	N	0.14661	0.345	0.09310	N	1	P;P;P	0.37636	0.468;0.603;0.468	B;B;B	0.34242	0.118;0.178;0.086	T	0.11542	-1.0583	10	0.72032	D	0.01	.	7.3223	0.26533	0.0:0.7402:0.17:0.0898	.	732;612;732	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	F	732	ENSP00000278070:S732F;ENSP00000399743:S732F	ENSP00000278070:S732F	S	+	2	0	PPRC1	103890450	0.981000	0.34729	0.547000	0.28179	0.069000	0.16628	2.284000	0.43478	1.511000	0.48818	0.561000	0.74099	TCT	PPRC1	-	NULL	ENSG00000148840		0.547	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	HGNC	protein_coding	OTTHUMT00000050021.1		0.00	25	0	C	NM_015062		103900460	+1			no_errors	ENST00000278070	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.059	T
PRDM9	56979	genome.wustl.edu	37	5	23522457	23522457	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr5:23522457G>T	ENST00000296682.3	+	7	735	c.553G>T	c.(553-555)Gaa>Taa	p.E185*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	185					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TAGCCTGCGAGAAAGAAAGGG	0.463										HNSCC(3;0.000094)																																							0													165.0	170.0	169.0					5																	23522457		1935	4161	6096	SO:0001587	stop_gained	0			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.553G>T	5.37:g.23522457G>T	ENSP00000296682:p.Glu185*		B4DX22|Q27Q50	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.E185*	ENST00000296682.3	37	c.553	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075697	0.76415	.	.	ENSG00000164256	ENST00000296682	.	.	.	3.63	0.743	0.18347	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.3389	5.0967	0.14737	0.4152:0.0:0.5848:0.0	.	.	.	.	X	185	.	ENSP00000296682:E185X	E	+	1	0	PRDM9	23558214	0.917000	0.31117	0.117000	0.21633	0.015000	0.08874	0.721000	0.25911	0.301000	0.22738	-0.321000	0.08615	GAA	PRDM9	-	pfam_SSXRD_motif	ENSG00000164256		0.463	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	-	0.00	59	0	G	NM_020227		23522457	+1	tier1	-	no_errors	ENST00000296682	ensembl	human	known	74_37	nonsense	9.68	56	6	SNP	0.319	T
PRKCSH	5589	genome.wustl.edu	37	19	11558389	11558391	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:11558389_11558391delGAG	ENST00000589838.1	+	10	985_987	c.985_987delGAG	c.(985-987)gagdel	p.E333del	PRKCSH_ENST00000412601.1_In_Frame_Del_p.E333del|PRKCSH_ENST00000591462.1_In_Frame_Del_p.E333del|PRKCSH_ENST00000587327.1_In_Frame_Del_p.E333del|PRKCSH_ENST00000252455.2_In_Frame_Del_p.E333del|PRKCSH_ENST00000592741.1_In_Frame_Del_p.E333del			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	333	Glu-rich (acidic).				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)	p.E329E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						ggctgaagaagaggaggaggagg	0.631																																																	1	Substitution - coding silent(1)	prostate(1)																																								SO:0001651	inframe_deletion	0				CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.985_987delGAG	19.37:g.11558398_11558400delGAG	ENSP00000465461:p.Glu333del		A8K318|Q96BU9|Q96D06|Q9P0W9	In_Frame_Del	DEL	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_hand_dom	p.E332in_frame_del	ENST00000589838.1	37	c.985_987	CCDS32911.1	19																																																																																			PRKCSH	-	NULL	ENSG00000130175		0.631	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKCSH	HGNC	protein_coding	OTTHUMT00000458817.1		0.00	69	0	GAG			11558391	+1	tier1		no_errors	ENST00000252455	ensembl	human	known	74_37	in_frame_del	8.70	21	2	DEL	0.991:0.981:0.490	-
PRKD2	25865	genome.wustl.edu	37	19	47181824	47181824	+	Silent	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:47181824G>A	ENST00000291281.4	-	16	2392	c.2167C>T	c.(2167-2169)Ctg>Ttg	p.L723L	PRKD2_ENST00000600194.1_Silent_p.L566L|PRKD2_ENST00000593492.1_5'UTR|PRKD2_ENST00000595515.1_Silent_p.L723L|DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000601806.1_Silent_p.L566L|PRKD2_ENST00000433867.1_Silent_p.L723L			Q9BZL6	KPCD2_HUMAN	protein kinase D2	723	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TGGTTGAGCAGCACCTCGGGT	0.612																																																	0													139.0	106.0	117.0					19																	47181824		2203	4300	6503	SO:0001819	synonymous_variant	0			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2167C>T	19.37:g.47181824G>A			Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.L723	ENST00000291281.4	37	c.2167	CCDS12689.1	19																																																																																			PRKD2	-	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	ENSG00000105287		0.612	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD2	HGNC	protein_coding	OTTHUMT00000466591.1	-	0.00	55	0	G	NM_016457		47181824	-1	tier1	-	no_errors	ENST00000291281	ensembl	human	known	74_37	silent	10.53	34	4	SNP	1.000	A
PRKD2	25865	genome.wustl.edu	37	19	47207558	47207558	+	Silent	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:47207558G>A	ENST00000291281.4	-	5	982	c.757C>T	c.(757-759)Ctg>Ttg	p.L253L	PRKD2_ENST00000600194.1_Silent_p.L96L|PRKD2_ENST00000595515.1_Silent_p.L253L|PRKD2_ENST00000601806.1_Silent_p.L96L|PRKD2_ENST00000433867.1_Silent_p.L253L			Q9BZL6	KPCD2_HUMAN	protein kinase D2	253					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		ATCTTGTCCAGCTCAATGGGG	0.592											OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													188.0	161.0	170.0					19																	47207558		2203	4300	6503	SO:0001819	synonymous_variant	0			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.757C>T	19.37:g.47207558G>A		945	Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.L253	ENST00000291281.4	37	c.757	CCDS12689.1	19																																																																																			PRKD2	-	NULL	ENSG00000105287		0.592	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD2	HGNC	protein_coding	OTTHUMT00000466591.1	-	0.00	54	0	G	NM_016457		47207558	-1	tier1	-	no_errors	ENST00000291281	ensembl	human	known	74_37	silent	27.78	26	10	SNP	0.977	A
PRSS58	136541	genome.wustl.edu	37	7	141955476	141955476	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr7:141955476G>C	ENST00000552471.1	-	2	377	c.58C>G	c.(58-60)Cca>Gca	p.P20A	PRSS58_ENST00000547058.2_Missense_Mutation_p.P20A			Q8IYP2	PRS58_HUMAN	protease, serine, 58	20	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GTGTAATCTGGATTAAAGGCC	0.448																																																	0													78.0	77.0	77.0					7																	141955476		2203	4300	6503	SO:0001583	missense	0				CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.58C>G	7.37:g.141955476G>C	ENSP00000446916:p.Pro20Ala		B3KVJ6|D3DXD2	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P20A	ENST00000552471.1	37	c.58	CCDS5871.1	7	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249956	0.22880	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	T;T	0.81163	-1.46;-1.46	4.57	-0.735	0.11137	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	T	0.55768	0.1941	N	0.12887	0.27	0.09310	N	1	B	0.34103	0.437	B	0.29077	0.098	T	0.51545	-0.8692	9	0.56958	D	0.05	.	0.2871	0.00253	0.2657:0.1451:0.2924:0.2968	.	20	Q8IYP2	PRS58_HUMAN	A	20	ENSP00000447588:P20A;ENSP00000446916:P20A	ENSP00000307206:P20A	P	-	1	0	PRSS58	141601953	0.431000	0.25546	0.054000	0.19295	0.162000	0.22319	0.409000	0.21082	0.168000	0.19655	0.655000	0.94253	CCA	PRSS58	-	superfamily_Trypsin-like_Pept_dom	ENSG00000258223		0.448	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRSS58	HGNC	protein_coding	OTTHUMT00000351328.2	-	0.00	27	0	G	NM_001001317		141955476	-1	tier1	-	no_errors	ENST00000547058	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.002	C
PTPN14	5784	genome.wustl.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	CCT	-	rs143136196|rs376331360|rs189081489|rs539310988	byFrequency	TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:214557049_214557051delCCT	ENST00000366956.5	-	13	2341_2343	c.2147_2149delAGG	c.(2146-2151)gaggct>gct	p.E716del	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	716	Poly-Glu.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.E716delE(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATTCTGGAGCCTCCTCCTCCTC	0.626																																					Colon(92;557 1424 24372 34121 40073)												1	Deletion - In frame(1)	liver(1)																																								SO:0001651	inframe_deletion	0			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2147_2149delAGG	1.37:g.214557058_214557060delCCT	ENSP00000355923:p.Glu716del		Q5VSI0	In_Frame_Del	DEL	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.E716in_frame_del	ENST00000366956.5	37	c.2149_2147	CCDS1514.1	1																																																																																			PTPN14	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21	ENSG00000152104		0.626	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	HGNC	protein_coding	OTTHUMT00000089918.2		0.00	25	0	CCT	NM_005401		214557051	-1	tier1		no_errors	ENST00000366956	ensembl	human	known	74_37	in_frame_del	18.75	13	3	DEL	0.182:0.503:0.995	-
QPCT	25797	genome.wustl.edu	37	2	37594505	37594505	+	Frame_Shift_Del	DEL	C	C	-			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:37594505delC	ENST00000338415.3	+	4	835	c.677delC	c.(676-678)accfs	p.T226fs	QPCT_ENST00000537448.1_Frame_Shift_Del_p.T177fs	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	226					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				ATGGCATCGACCCCGCACCCA	0.532																																																	0													81.0	76.0	78.0					2																	37594505		2203	4300	6503	SO:0001589	frameshift_variant	0			X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"""glutaminyl cyclase"""	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.677delC	2.37:g.37594505delC	ENSP00000344829:p.Thr226fs		Q16770|Q3KRG6|Q53TR4	Frame_Shift_Del	DEL	pfam_Peptidase_M28	p.P227fs	ENST00000338415.3	37	c.677	CCDS1790.1	2																																																																																			QPCT	-	pfam_Peptidase_M28	ENSG00000115828		0.532	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QPCT	HGNC	protein_coding	OTTHUMT00000218572.2		0.00	24	0	C			37594505	+1	tier1		no_errors	ENST00000338415	ensembl	human	known	74_37	frame_shift_del	8.70	21	2	DEL	0.638	-
R3HDM2	22864	genome.wustl.edu	37	12	57663112	57663112	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr12:57663112G>A	ENST00000347140.3	-	16	2056	c.1666C>T	c.(1666-1668)Cag>Tag	p.Q556*	R3HDM2_ENST00000403821.2_Nonsense_Mutation_p.Q590*|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000402412.1_Nonsense_Mutation_p.Q570*|R3HDM2_ENST00000441731.2_Nonsense_Mutation_p.Q251*|R3HDM2_ENST00000358907.2_Nonsense_Mutation_p.Q556*|R3HDM2_ENST00000413953.2_Nonsense_Mutation_p.Q283*|R3HDM2_ENST00000546843.1_5'Flank			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	556	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TTACCAGGCTGCTGGGATGGC	0.517																																																	0													78.0	83.0	81.0					12																	57663112		2203	4300	6503	SO:0001587	stop_gained	0			AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1666C>T	12.37:g.57663112G>A	ENSP00000317903:p.Gln556*		Q2M1T9|Q3ZCT5	Nonsense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.Q556*	ENST00000347140.3	37	c.1666	CCDS8937.2	12	.	.	.	.	.	.	.	.	.	.	G	38	6.721693	0.97788	.	.	ENSG00000179912	ENST00000413953;ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-6.596	17.5997	0.88022	0.0:0.0:1.0:0.0	.	.	.	.	X	283;283;556;570;556;251;321;590	.	ENSP00000317903:Q556X	Q	-	1	0	R3HDM2	55949379	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.869000	0.92326	2.753000	0.94483	0.655000	0.94253	CAG	R3HDM2	-	NULL	ENSG00000179912		0.517	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM2	HGNC	protein_coding	OTTHUMT00000326570.2		0.00	77	0	G	NM_014925		57663112	-1			no_errors	ENST00000347140	ensembl	human	known	74_37	nonsense	7.55	49	4	SNP	1.000	A
RABL2B	11158	genome.wustl.edu	37	22	51208155	51208155	+	Intron	SNP	C	C	T	rs563437836	byFrequency	TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr22:51208155C>T	ENST00000395598.3	-	6	621				RABL2B_ENST00000395595.3_Intron|RABL2B_ENST00000395591.1_Intron|RABL2B_ENST00000435118.1_Intron|RABL2B_ENST00000354869.3_Intron|RABL2B_ENST00000395593.3_Intron|RABL2B_ENST00000465063.1_5'UTR	NM_001003789.1|NM_001130919.1|NM_001130922.1|NM_007081.2	NP_001003789.1|NP_001124391.1|NP_001124394.1|NP_009012.1	Q9UNT1	RBL2B_HUMAN	RAB, member of RAS oncogene family-like 2B						GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(1)	1		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		GAGGGCAGGTCGGCTTAGCTG	0.498													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18711	0.0		0.0	False		,,,				2504	0.0				GBM(148;358 1894 4987 13698 40400)												0																																										SO:0001627	intron_variant	0				CCDS14102.1, CCDS33683.1, CCDS46738.1	22q13.33	2014-05-09			ENSG00000079974	ENSG00000079974		"""RAB, member RAS oncogene"""	9800	protein-coding gene	gene with protein product		605413				10444334	Standard	NM_001130919		Approved		uc011asg.1	Q9UNT1	OTTHUMG00000150156	ENST00000395598.3:c.409+177G>A	22.37:g.51208155C>T			Q5TZT8|Q96C33	RNA	SNP	-	NULL	ENST00000395598.3	37	NULL	CCDS14102.1	22																																																																																			RABL2B	-	-	ENSG00000079974		0.498	RABL2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RABL2B	HGNC	protein_coding	OTTHUMT00000316606.1	-	0.00	24	0	C	NM_001003789		51208155	-1	tier1	-	no_errors	ENST00000465063	ensembl	human	known	74_37	rna	33.33	8	4	SNP	0.000	T
RFX6	222546	genome.wustl.edu	37	6	117245835	117245835	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr6:117245835C>G	ENST00000332958.2	+	15	1575	c.1559C>G	c.(1558-1560)tCt>tGt	p.S520C		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	520					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.S520Y(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AAACAAGGTTCTTTTCATTTG	0.393																																																	1	Substitution - Missense(1)	large_intestine(1)											131.0	127.0	128.0					6																	117245835		2203	4300	6503	SO:0001583	missense	0			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1559C>G	6.37:g.117245835C>G	ENSP00000332208:p.Ser520Cys		Q5T6B3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.S520C	ENST00000332958.2	37	c.1559	CCDS5113.1	6	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344418	0.82022	.	.	ENSG00000185002	ENST00000332958	T	0.64991	-0.13	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.79759	0.4501	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.82544	-0.0404	10	0.87932	D	0	-18.9274	19.3617	0.94442	0.0:1.0:0.0:0.0	.	520	Q8HWS3	RFX6_HUMAN	C	520	ENSP00000332208:S520C	ENSP00000332208:S520C	S	+	2	0	RFX6	117352528	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.398000	0.79919	2.646000	0.89796	0.655000	0.94253	TCT	RFX6	-	NULL	ENSG00000185002		0.393	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	HGNC	protein_coding	OTTHUMT00000041970.2	-	0.00	50	0	C	NM_173560		117245835	+1	tier1	-	no_errors	ENST00000332958	ensembl	human	known	74_37	missense	28.26	32	13	SNP	1.000	G
RIMBP2	23504	genome.wustl.edu	37	12	130926544	130926544	+	Silent	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr12:130926544G>A	ENST00000261655.4	-	8	1465	c.1302C>T	c.(1300-1302)gcC>gcT	p.A434A	RIMBP2_ENST00000536002.1_Silent_p.A342A|RIMBP2_ENST00000535703.1_Silent_p.A342A	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	434	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGTACCTGGCGGCCTTGACGA	0.572																																																	0													129.0	94.0	106.0					12																	130926544		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1302C>T	12.37:g.130926544G>A			Q96ID2	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.A434	ENST00000261655.4	37	c.1302	CCDS31925.1	12																																																																																			RIMBP2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000060709		0.572	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1	-	0.00	67	0	G	NM_015347		130926544	-1	tier1	-	no_errors	ENST00000261655	ensembl	human	known	74_37	silent	63.27	18	31	SNP	0.278	A
RLF	6018	genome.wustl.edu	37	1	40702244	40702244	+	Missense_Mutation	SNP	T	T	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:40702244T>A	ENST00000372771.4	+	8	1897	c.1870T>A	c.(1870-1872)Tct>Act	p.S624T		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	624					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)			GTTAAAAGGCTCTCAAAAGGG	0.398																																																	0													55.0	57.0	56.0					1																	40702244		2202	4299	6501	SO:0001583	missense	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.1870T>A	1.37:g.40702244T>A	ENSP00000361857:p.Ser624Thr		Q14CQ1|Q9NU60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S624T	ENST00000372771.4	37	c.1870	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	T	9.174	1.021927	0.19433	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.14266	2.52	6.17	3.86	0.44501	.	0.482992	0.25294	N	0.031710	T	0.06416	0.0165	N	0.14661	0.345	0.23882	N	0.996576	B;B	0.19073	0.033;0.001	B;B	0.13407	0.009;0.004	T	0.26121	-1.0112	10	0.40728	T	0.16	-8.7252	1.355	0.02180	0.1637:0.1227:0.1715:0.5421	.	317;624	F5H2M5;Q13129	.;RLF_HUMAN	T	624;317	ENSP00000361857:S624T	ENSP00000361857:S624T	S	+	1	0	RLF	40474831	0.002000	0.14202	0.997000	0.53966	0.977000	0.68977	0.934000	0.28910	1.117000	0.41842	0.533000	0.62120	TCT	RLF	-	NULL	ENSG00000117000		0.398	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	-	0.00	37	0	T	NM_012421		40702244	+1	tier1	-	no_errors	ENST00000372771	ensembl	human	known	74_37	missense	53.12	15	17	SNP	0.993	A
RMDN2	151393	genome.wustl.edu	37	2	38177583	38177583	+	Intron	SNP	C	C	G			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:38177583C>G	ENST00000406384.1	+	2	646				RMDN2_ENST00000407257.1_5'UTR|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000402091.3_5'Flank|RMDN2_ENST00000417700.2_5'Flank|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_5'Flank	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											TCATCACATTCTGTGTTATTG	0.438																																																	0																																										SO:0001627	intron_variant	0			AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.452+20711C>G	2.37:g.38177583C>G			A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	RNA	SNP	-	NULL	ENST00000406384.1	37	NULL	CCDS54351.1	2																																																																																			RMDN2-AS1	-	-	ENSG00000235848		0.438	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RMDN2-AS1	HGNC	protein_coding	OTTHUMT00000325577.1	-	0.00	44	0	C	NM_144713		38177583	-1	tier1	-	no_errors	ENST00000414365	ensembl	human	known	74_37	rna	10.81	33	4	SNP	0.915	G
RRS1	23212	genome.wustl.edu	37	8	67341994	67341994	+	Missense_Mutation	SNP	A	A	G			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr8:67341994A>G	ENST00000320270.2	+	1	732	c.628A>G	c.(628-630)Acc>Gcc	p.T210A	ADHFE1_ENST00000396623.3_5'Flank|ADHFE1_ENST00000379385.4_5'Flank|RP11-346I3.4_ENST00000499642.1_lincRNA|ADHFE1_ENST00000415254.1_5'Flank	NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	210					hematopoietic progenitor cell differentiation (GO:0002244)|mitotic metaphase plate congression (GO:0007080)|ribosome biogenesis (GO:0042254)	condensed nuclear chromosome (GO:0000794)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CTTGCACCCTACCGGACACCA	0.662																																																	0													15.0	18.0	17.0					8																	67341994		2142	4230	6372	SO:0001583	missense	0			BC001811	CCDS6189.1	8q13.1	2013-10-22			ENSG00000179041	ENSG00000179041			17083	protein-coding gene	gene with protein product						7788527, 10688653	Standard	NM_015169		Approved	KIAA0112	uc003xwa.3	Q15050	OTTHUMG00000164765	ENST00000320270.2:c.628A>G	8.37:g.67341994A>G	ENSP00000322396:p.Thr210Ala		Q9BUX8	Missense_Mutation	SNP	pfam_Ribosom_reg	p.T210A	ENST00000320270.2	37	c.628	CCDS6189.1	8	.	.	.	.	.	.	.	.	.	.	A	8.963	0.970933	0.18659	.	.	ENSG00000179041	ENST00000320270	D	0.85773	-2.03	5.75	4.59	0.56863	.	0.104243	0.64402	D	0.000011	T	0.70090	0.3184	N	0.17082	0.46	0.19575	N	0.999964	B	0.19706	0.038	B	0.15870	0.014	T	0.52653	-0.8547	10	0.12103	T	0.63	-14.3429	8.6864	0.34240	0.8445:0.0:0.1554:0.0	.	210	Q15050	RRS1_HUMAN	A	210	ENSP00000322396:T210A	ENSP00000322396:T210A	T	+	1	0	RRS1	67504548	0.569000	0.26643	0.641000	0.29422	0.986000	0.74619	2.978000	0.49305	1.013000	0.39391	0.528000	0.53228	ACC	RRS1	-	NULL	ENSG00000179041		0.662	RRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRS1	HGNC	protein_coding	OTTHUMT00000380126.1	-	0.00	22	0	A	NM_015169		67341994	+1	tier1	-	no_errors	ENST00000320270	ensembl	human	known	74_37	missense	63.64	8	14	SNP	0.163	G
SACS	26278	genome.wustl.edu	37	13	23915309	23915309	+	Silent	SNP	G	G	C			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr13:23915309G>C	ENST00000382292.3	-	9	2979	c.2706C>G	c.(2704-2706)gcC>gcG	p.A902A	SACS_ENST00000402364.1_Silent_p.A152A|SACS_ENST00000382298.3_Silent_p.A902A			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	902					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACTTCCTCAGGGCATCTTTGT	0.378																																																	0													143.0	145.0	144.0					13																	23915309		2203	4300	6503	SO:0001819	synonymous_variant	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.2706C>G	13.37:g.23915309G>C			O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.A902	ENST00000382292.3	37	c.2706	CCDS9300.2	13																																																																																			SACS	-	NULL	ENSG00000151835		0.378	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3		0.00	55	0	G	NM_014363		23915309	-1			no_errors	ENST00000382292	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.991	C
SAGE1	55511	genome.wustl.edu	37	X	134993792	134993792	+	Missense_Mutation	SNP	C	C	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chrX:134993792C>A	ENST00000370709.3	+	17	2201	c.2201C>A	c.(2200-2202)cCt>cAt	p.P734H	SAGE1_ENST00000537770.1_Missense_Mutation_p.P358H|SAGE1_ENST00000324447.3_Missense_Mutation_p.P734H|SAGE1_ENST00000535938.1_Missense_Mutation_p.P734H			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	734						nucleus (GO:0005634)		p.P734L(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GATCAAACCCCTCCTGATGGC	0.418																																																	1	Substitution - Missense(1)	lung(1)											126.0	122.0	123.0					X																	134993792		2203	4300	6503	SO:0001583	missense	0			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2201C>A	X.37:g.134993792C>A	ENSP00000359743:p.Pro734His		Q5JNW0	Missense_Mutation	SNP	NULL	p.P734H	ENST00000370709.3	37	c.2201	CCDS14652.1	X	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849602	0.32699	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.33865	1.39;1.39;1.43;1.39	2.25	1.13	0.20643	.	0.705406	0.13976	U	0.349807	T	0.44159	0.1280	L	0.47716	1.5	0.09310	N	1	D;D	0.67145	0.994;0.996	D;D	0.66847	0.916;0.947	T	0.13602	-1.0503	10	0.59425	D	0.04	.	4.6819	0.12739	0.3692:0.6308:0.0:0.0	.	358;734	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	H	734;734;358;734	ENSP00000323191:P734H;ENSP00000445959:P734H;ENSP00000438276:P358H;ENSP00000359743:P734H	ENSP00000323191:P734H	P	+	2	0	SAGE1	134821458	0.000000	0.05858	0.004000	0.12327	0.065000	0.16274	0.266000	0.18534	1.055000	0.40461	0.179000	0.17066	CCT	SAGE1	-	NULL	ENSG00000181433		0.418	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	HGNC	protein_coding	OTTHUMT00000058448.1	-	0.00	24	0	C	NM_018666		134993792	+1	tier1	-	no_errors	ENST00000324447	ensembl	human	known	74_37	missense	73.33	4	11	SNP	0.057	A
SALL1	6299	genome.wustl.edu	37	16	51174226	51174226	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr16:51174226G>A	ENST00000251020.4	-	2	1940	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.T539M|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	636					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)			ACTGCTCGCCGTCGGGACTGA	0.637																																					GBM(103;1352 1446 1855 4775 8890)												0													37.0	37.0	37.0					16																	51174226		2198	4300	6498	SO:0001583	missense	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.1907C>T	16.37:g.51174226G>A	ENSP00000251020:p.Thr636Met		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T636M	ENST00000251020.4	37	c.1907	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	G	0.623	-0.820325	0.02755	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.07908	3.15;3.17	4.89	1.52	0.23074	.	0.707310	0.15004	N	0.285972	T	0.04815	0.0130	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.35599	-0.9782	10	0.44086	T	0.13	.	2.7749	0.05345	0.0931:0.2582:0.4246:0.2241	.	636	Q9NSC2	SALL1_HUMAN	M	636;539;600	ENSP00000251020:T636M;ENSP00000407914:T539M	ENSP00000251020:T636M	T	-	2	0	SALL1	49731727	0.017000	0.18338	0.000000	0.03702	0.095000	0.18619	0.925000	0.28791	0.626000	0.30322	0.557000	0.71058	ACG	SALL1	-	NULL	ENSG00000103449		0.637	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	-	0.00	20	0	G	NM_002968		51174226	-1	tier1	-	no_errors	ENST00000251020	ensembl	human	known	74_37	missense	18.52	22	5	SNP	0.001	A
SCARF1	8578	genome.wustl.edu	37	17	1548525	1548525	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr17:1548525G>T	ENST00000263071.4	-	2	159	c.110C>A	c.(109-111)gCt>gAt	p.A37D	SCARF1_ENST00000574545.1_5'Flank|SCARF1_ENST00000348987.3_Missense_Mutation_p.A37D|SCARF1_ENST00000571272.1_Missense_Mutation_p.A37D	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	37					cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGCAGCTCAGCAGAGGGGCT	0.632																																																	0													42.0	36.0	38.0					17																	1548525		2202	4300	6502	SO:0001583	missense	0			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.110C>A	17.37:g.1548525G>T	ENSP00000263071:p.Ala37Asp		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Nonsense_Mutation	SNP	NULL	p.C49*	ENST00000263071.4	37	c.147	CCDS11007.1	17	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756021	0.69648	.	.	ENSG00000074660	ENST00000263071;ENST00000348987;ENST00000434376	T;T;T	0.21031	2.03;2.74;2.68	4.36	3.12	0.35913	.	0.611501	0.12518	U	0.461930	T	0.24509	0.0594	N	0.22421	0.69	0.09310	N	1	D;D;B	0.67145	0.996;0.987;0.175	P;P;B	0.62184	0.899;0.795;0.084	T	0.07986	-1.0744	10	0.32370	T	0.25	-6.1734	7.12	0.25440	0.1097:0.0:0.7165:0.1738	.	37;37;37	Q14162-2;Q14162;Q14162-3	.;SREC_HUMAN;.	D	37	ENSP00000263071:A37D;ENSP00000323964:A37D;ENSP00000411167:A37D	ENSP00000263071:A37D	A	-	2	0	SCARF1	1495275	0.013000	0.17824	0.998000	0.56505	0.971000	0.66376	1.454000	0.35178	1.987000	0.57996	0.555000	0.69702	GCT	SCARF1	-	NULL	ENSG00000074660		0.632	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCARF1	HGNC	protein_coding	OTTHUMT00000207081.4	-	0.00	96	0	G	NM_003693		1548525	-1	tier1	-	no_errors	ENST00000573852	ensembl	human	known	74_37	nonsense	10.00	36	4	SNP	0.107	T
SAT2	112483	genome.wustl.edu	37	17	7530049	7530049	+	Intron	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr17:7530049G>A	ENST00000269298.5	-	5	565				SAT2_ENST00000573566.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000576728.1_Intron|SAT2_ENST00000380466.2_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000340624.5_5'Flank|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000572262.1_Intron	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2						nor-spermidine metabolic process (GO:0046204)|putrescine acetylation (GO:0032920)|putrescine catabolic process (GO:0009447)|spermidine acetylation (GO:0032918)|spermine acetylation (GO:0032919)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	diamine N-acetyltransferase activity (GO:0004145)	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	GTCCTCACTTGTCGCCCCACC	0.463																																																	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											116.0	111.0	113.0					17																	7530049		2203	4300	6503	SO:0001627	intron_variant	0			AF348524	CCDS11116.1	17p13.2	2011-11-16	2008-01-07		ENSG00000141504	ENSG00000141504	2.3.1.57		23160	protein-coding gene	gene with protein product	"""diamine N-acetyltransferase 2"""	611463	"""spermidine/spermine N1-acetyltransferase 2"""			15283699, 17558023	Standard	NM_133491		Approved	SSAT2	uc002gic.2	Q96F10	OTTHUMG00000108152	ENST00000269298.5:c.345+21C>T	17.37:g.7530049G>A				RNA	SNP	-	NULL	ENST00000269298.5	37	NULL	CCDS11116.1	17																																																																																			SAT2	-	-	ENSG00000141504		0.463	SAT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SAT2	HGNC	protein_coding	OTTHUMT00000440078.1	-	0.00	69	0	G	NM_133491		7530049	-1	tier1	-	no_errors	ENST00000570850	ensembl	human	known	74_37	rna	8.89	41	4	SNP	0.000	A
SEC13	6396	genome.wustl.edu	37	3	10357052	10357052	+	Silent	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:10357052G>T	ENST00000350697.3	-	3	242	c.117C>A	c.(115-117)atC>atA	p.I39I	SEC13_ENST00000397117.1_Silent_p.I25I|SEC13_ENST00000383801.2_Silent_p.I85I|SEC13_ENST00000337354.4_Silent_p.I42I|SEC13_ENST00000397109.3_Silent_p.I25I	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	39					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						GCACATCAAAGATTTTGACGG	0.597																																																	0													77.0	69.0	72.0					3																	10357052		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"""WD repeat domain containing"""	10697	protein-coding gene	gene with protein product		600152	"""SEC13 (S. cerevisiae)-like 1"", ""SEC13-like 1 (S. cerevisiae)"""	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.117C>A	3.37:g.10357052G>T			A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I39	ENST00000350697.3	37	c.117	CCDS2599.1	3																																																																																			SEC13	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000157020		0.597	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC13	HGNC	protein_coding	OTTHUMT00000250563.3		0.00	29	0	G			10357052	-1			no_errors	ENST00000350697	ensembl	human	known	74_37	silent	9.52	19	2	SNP	1.000	T
SH3KBP1	30011	genome.wustl.edu	37	X	19702016	19702016	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chrX:19702016G>T	ENST00000397821.3	-	6	941	c.651C>A	c.(649-651)gaC>gaA	p.D217E	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.D261E|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.D180E	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	217					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CTTTGAAAATGTCTCCAAAGC	0.453																																																	0													171.0	151.0	158.0					X																	19702016		2203	4300	6503	SO:0001583	missense	0			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.651C>A	X.37:g.19702016G>T	ENSP00000380921:p.Asp217Glu		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.D217E	ENST00000397821.3	37	c.651	CCDS14193.1	X	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192016	0.58017	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000397804;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234;ENST00000431164	T;T;T;T;T;T	0.56103	1.29;1.34;0.64;0.77;0.48;0.71	5.82	-0.7	0.11273	.	1.004850	0.08032	U	0.993675	T	0.71187	0.3310	M	0.76838	2.35	0.80722	D	1	D;D	0.76494	0.999;0.994	P;D	0.72625	0.907;0.978	T	0.69833	-0.5038	10	0.66056	D	0.02	-14.5649	12.1812	0.54214	0.5096:0.0:0.4904:0.0	.	217;180	Q96B97;Q5JPT5	SH3K1_HUMAN;.	E	202;217;125;180;197;261;164;125	ENSP00000380921:D217E;ENSP00000369020:D180E;ENSP00000369049:D197E;ENSP00000369019:D261E;ENSP00000388766:D164E;ENSP00000409292:D125E	ENSP00000369019:D261E	D	-	3	2	SH3KBP1	19611937	0.999000	0.42202	0.996000	0.52242	0.967000	0.64934	0.795000	0.26972	-0.238000	0.09724	-0.340000	0.08031	GAC	SH3KBP1	-	NULL	ENSG00000147010		0.453	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1	-	0.00	42	0	G	NM_031892		19702016	-1	tier1	-	no_errors	ENST00000397821	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.991	T
SKIDA1	387640	genome.wustl.edu	37	10	21806537	21806537	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:21806537C>T	ENST00000449193.2	-	4	2467	c.215G>A	c.(214-216)aGc>aAc	p.S72N	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_Missense_Mutation_p.S72N	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	72						nucleus (GO:0005634)											GAAGGCGATGCTGTTAATTGC	0.567																																																	0													80.0	79.0	79.0					10																	21806537		2128	4236	6364	SO:0001583	missense	0			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.215G>A	10.37:g.21806537C>T	ENSP00000410041:p.Ser72Asn		B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.S72N	ENST00000449193.2	37	c.215	CCDS44363.1	10	.	.	.	.	.	.	.	.	.	.	C	17.64	3.438828	0.62955	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	D;D	0.82526	-1.62;-1.62	4.96	4.96	0.65561	DNA binding domain, putative (1);Transforming protein Ski (2);	0.126644	0.52532	D	0.000080	D	0.85513	0.5714	L	0.29908	0.895	0.43508	D	0.995761	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.87053	0.2148	10	0.87932	D	0	-9.5732	13.0394	0.58891	0.0:0.697:0.303:0.0	.	72;72	Q1XH10;E9PAX1	DLN1_HUMAN;.	N	72	ENSP00000410041:S72N;ENSP00000442432:S72N	ENSP00000442432:S72N	S	-	2	0	C10orf140	21846543	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	6.985000	0.76193	2.292000	0.77174	0.313000	0.20887	AGC	SKIDA1	-	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	ENSG00000180592		0.567	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIDA1	HGNC	protein_coding	OTTHUMT00000286950.2		0.00	61	0	C	NM_207371		21806537	-1			no_errors	ENST00000449193	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T
SLC25A40	55972	genome.wustl.edu	37	7	87476367	87476367	+	Silent	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr7:87476367G>A	ENST00000341119.5	-	8	874	c.528C>T	c.(526-528)taC>taT	p.Y176Y		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	176					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					GCAGTTCCACGTAAGAAAACT	0.393																																																	0													151.0	156.0	154.0					7																	87476367		2203	4300	6503	SO:0001819	synonymous_variant	0			AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"""Solute carriers"""	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.528C>T	7.37:g.87476367G>A			A8K483|D6W5P6|Q53GB1|Q9UHR1	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.Y176	ENST00000341119.5	37	c.528	CCDS5610.1	7																																																																																			SLC25A40	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000075303		0.393	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A40	HGNC	protein_coding	OTTHUMT00000253677.5	-	0.00	42	0	G	NM_018843		87476367	-1	tier1	-	no_errors	ENST00000341119	ensembl	human	known	74_37	silent	27.27	24	9	SNP	1.000	A
SLC4A8	9498	genome.wustl.edu	37	12	51890822	51890822	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr12:51890822C>T	ENST00000453097.2	+	22	3212	c.2995C>T	c.(2995-2997)Cga>Tga	p.R999*	SLC4A8_ENST00000358657.3_Nonsense_Mutation_p.R1026*	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TTTCTCTAAGCGAGAGCTGAG	0.408																																																	0													97.0	98.0	97.0					12																	51890822		2203	4300	6503	SO:0001587	stop_gained	0			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2995C>T	12.37:g.51890822C>T	ENSP00000405812:p.Arg999*			Nonsense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.R999*	ENST00000453097.2	37	c.2995	CCDS44890.1	12	.	.	.	.	.	.	.	.	.	.	C	40	8.173810	0.98688	.	.	ENSG00000050438	ENST00000358657;ENST00000453097;ENST00000319957;ENST00000551071	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8313	0.92141	0.0:1.0:0.0:0.0	.	.	.	.	X	1026;999;999;946	.	ENSP00000315789:R999X	R	+	1	2	SLC4A8	50177089	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.562000	0.36353	2.824000	0.97209	0.655000	0.94253	CGA	SLC4A8	-	tigrfam_HCO3_transpt_euk	ENSG00000050438		0.408	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A8	HGNC	protein_coding	OTTHUMT00000404356.1	-	0.00	64	0	C	NM_004858		51890822	+1	tier1	-	no_errors	ENST00000453097	ensembl	human	known	74_37	nonsense	7.69	48	4	SNP	1.000	T
SLC5A7	60482	genome.wustl.edu	37	2	108608612	108608612	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:108608612G>T	ENST00000264047.2	+	3	505	c.229G>T	c.(229-231)Gta>Tta	p.V77L	SLC5A7_ENST00000540517.1_5'UTR|SLC5A7_ENST00000409059.1_Missense_Mutation_p.V77L	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	77					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	AGCAGTTTATGTACCAGGTTA	0.443																																																	0													186.0	157.0	167.0					2																	108608612		2203	4300	6503	SO:0001583	missense	0			AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.229G>T	2.37:g.108608612G>T	ENSP00000264047:p.Val77Leu		Q53TF2	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter	p.V77L	ENST00000264047.2	37	c.229	CCDS2074.1	2	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818854	0.50633	.	.	ENSG00000115665	ENST00000409059;ENST00000264047	D;D	0.86694	-2.16;-2.16	6.16	6.16	0.99307	.	0.119181	0.56097	D	0.000027	T	0.77384	0.4122	N	0.11201	0.11	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.71076	-0.4697	10	0.11485	T	0.65	-15.9177	20.8598	0.99761	0.0:0.0:1.0:0.0	.	77	Q9GZV3	SC5A7_HUMAN	L	77	ENSP00000387346:V77L;ENSP00000264047:V77L	ENSP00000264047:V77L	V	+	1	0	SLC5A7	107975044	1.000000	0.71417	0.955000	0.39395	0.996000	0.88848	3.509000	0.53386	2.937000	0.99478	0.650000	0.86243	GTA	SLC5A7	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter	ENSG00000115665		0.443	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A7	HGNC	protein_coding	OTTHUMT00000253562.1	-	0.00	49	0	G			108608612	+1	tier1	-	no_errors	ENST00000264047	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T
SLC7A1	6541	genome.wustl.edu	37	13	30096468	30096468	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr13:30096468G>T	ENST00000380752.5	-	8	1561	c.1175C>A	c.(1174-1176)tCg>tAg	p.S392*	SLC7A1_ENST00000473577.1_5'Flank	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	392					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)	p.S392*(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AACGGCACCCGAGGCTAATGT	0.458																																																	1	Substitution - Nonsense(1)	lung(1)											292.0	264.0	274.0					13																	30096468		2203	4300	6503	SO:0001587	stop_gained	0			AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.1175C>A	13.37:g.30096468G>T	ENSP00000370128:p.Ser392*		Q5JR50	Nonsense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	p.S392*	ENST00000380752.5	37	c.1175	CCDS9333.1	13	.	.	.	.	.	.	.	.	.	.	G	38	7.126406	0.98081	.	.	ENSG00000139514	ENST00000380752	.	.	.	4.89	4.89	0.63831	.	0.056250	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.5927	0.88001	0.0:0.0:1.0:0.0	.	.	.	.	X	392	.	ENSP00000370128:S392X	S	-	2	0	SLC7A1	28994468	1.000000	0.71417	0.984000	0.44739	0.154000	0.21943	9.539000	0.98076	2.717000	0.92951	0.650000	0.86243	TCG	SLC7A1	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	ENSG00000139514		0.458	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A1	HGNC	protein_coding	OTTHUMT00000044337.2		0.00	61	0	G	NM_003045		30096468	-1			no_errors	ENST00000380752	ensembl	human	known	74_37	nonsense	6.52	43	3	SNP	1.000	T
SLC9A9	285195	genome.wustl.edu	37	3	143412093	143412093	+	Missense_Mutation	SNP	C	C	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:143412093C>A	ENST00000316549.6	-	5	798	c.590G>T	c.(589-591)gGa>gTa	p.G197V		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	197					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						ATGAAAGTCTCCATTTTTCAG	0.343																																																	0													104.0	103.0	103.0					3																	143412093		2203	4300	6503	SO:0001583	missense	0			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.590G>T	3.37:g.143412093C>A	ENSP00000320246:p.Gly197Val		A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.G197V	ENST00000316549.6	37	c.590	CCDS33872.1	3	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842742	0.71488	.	.	ENSG00000181804	ENST00000316549;ENST00000450105	T	0.15017	2.46	5.53	5.53	0.82687	Cation/H+ exchanger (1);	0.166829	0.41001	D	0.000976	T	0.21062	0.0507	L	0.41356	1.27	0.80722	D	1	P	0.42456	0.78	P	0.45577	0.486	T	0.01914	-1.1248	10	0.12430	T	0.62	.	19.4414	0.94823	0.0:1.0:0.0:0.0	.	197	Q8IVB4	SL9A9_HUMAN	V	197;80	ENSP00000320246:G197V	ENSP00000320246:G197V	G	-	2	0	SLC9A9	144894783	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.992000	0.63889	2.599000	0.87857	0.650000	0.86243	GGA	SLC9A9	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000181804		0.343	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A9	HGNC	protein_coding	OTTHUMT00000354994.1	-	0.00	42	0	C	NM_173653		143412093	-1	tier1	-	no_errors	ENST00000316549	ensembl	human	known	74_37	missense	18.85	99	23	SNP	1.000	A
SLIT2	9353	genome.wustl.edu	37	4	20568920	20568920	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr4:20568920C>T	ENST00000504154.1	+	27	3013	c.2761C>T	c.(2761-2763)Ccc>Tcc	p.P921S	SLIT2_ENST00000503823.1_Missense_Mutation_p.P913S|SLIT2_ENST00000503837.1_Missense_Mutation_p.P917S|SLIT2_ENST00000273739.5_Missense_Mutation_p.P925S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	921	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TAAGTGTAACCCCTGCCTATC	0.363																																																	0													206.0	202.0	203.0					4																	20568920		2203	4299	6502	SO:0001583	missense	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2761C>T	4.37:g.20568920C>T	ENSP00000422591:p.Pro921Ser		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,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_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.P921S	ENST00000504154.1	37	c.2761	CCDS3426.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.755582|4.755582	0.89843|0.89843	.|.	.|.	ENSG00000145147|ENSG00000145147	ENST00000509941|ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	.|D;D;D;D;D	.|0.99735	.|-1.98;-1.98;-1.98;-1.98;-6.58	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.99591|0.99591	0.9852|0.9852	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.99;1.0	.|D;D	.|0.97110	.|0.923;1.0	D|D	0.99402|0.99402	1.0928|1.0928	6|10	.|0.35671	.|T	.|0.21	.|.	19.7654|19.7654	0.96337|0.96337	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|913;921	.|O94813-3;O94813	.|.;SLIT2_HUMAN	L|S	51|913;921;925;917;917;133	.|ENSP00000427548:P913S;ENSP00000422591:P921S;ENSP00000273739:P925S;ENSP00000422261:P917S;ENSP00000421975:P133S	.|ENSP00000273739:P925S	P|P	+|+	2|1	0|0	SLIT2|SLIT2	20178018|20178018	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.949000|0.949000	0.60115|0.60115	7.818000|7.818000	0.86416|0.86416	2.659000|2.659000	0.90383|0.90383	0.655000|0.655000	0.94253|0.94253	CCC|CCC	SLIT2	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000145147		0.363	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	-	0.00	39	0	C			20568920	+1	tier1	-	no_errors	ENST00000504154	ensembl	human	known	74_37	missense	50.00	13	13	SNP	1.000	T
SNTG2	54221	genome.wustl.edu	37	2	1093924	1093924	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:1093924G>T	ENST00000308624.5	+	3	382	c.253G>T	c.(253-255)Ggc>Tgc	p.G85C	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	85	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGGCGGCTTGGGCCTGAGTAT	0.383																																																	0													242.0	246.0	244.0					2																	1093924		1847	4094	5941	SO:0001583	missense	0			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.253G>T	2.37:g.1093924G>T	ENSP00000311837:p.Gly85Cys		Q05AH5	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G85C	ENST00000308624.5	37	c.253	CCDS46220.1	2	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092861	0.56075	.	.	ENSG00000172554	ENST00000308624	D	0.90324	-2.65	4.68	4.68	0.58851	PDZ/DHR/GLGF (4);	0.053112	0.85682	D	0.000000	D	0.97247	0.9100	H	0.98333	4.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98686	1.0694	10	0.66056	D	0.02	.	15.3884	0.74723	0.0:0.0:1.0:0.0	.	85	Q9NY99	SNTG2_HUMAN	C	85	ENSP00000311837:G85C	ENSP00000311837:G85C	G	+	1	0	SNTG2	1083924	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	7.431000	0.80335	2.121000	0.65114	0.563000	0.77884	GGC	SNTG2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000172554		0.383	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1	-	0.00	37	0	G	NM_018968		1093924	+1	tier1	-	no_errors	ENST00000308624	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T
SPEF2	79925	genome.wustl.edu	37	5	35700690	35700690	+	Missense_Mutation	SNP	A	A	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr5:35700690A>T	ENST00000356031.3	+	16	2388	c.2234A>T	c.(2233-2235)aAt>aTt	p.N745I	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.N740I|SPEF2_ENST00000440995.2_Missense_Mutation_p.N740I	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	745					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACAGGCTGCAATAGAAACCTC	0.403																																																	0													93.0	84.0	87.0					5																	35700690		1822	4074	5896	SO:0001583	missense	0			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2234A>T	5.37:g.35700690A>T	ENSP00000348314:p.Asn745Ile		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.N745I	ENST00000356031.3	37	c.2234	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	A	6.647	0.487885	0.12641	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.79	3.38	0.38709	.	0.644230	0.15762	N	0.245900	T	0.73393	0.3581	M	0.64404	1.975	0.09310	N	0.999997	P;P;P	0.45634	0.863;0.73;0.772	P;B;B	0.47206	0.541;0.178;0.272	T	0.62932	-0.6749	10	0.48119	T	0.1	.	7.1614	0.25667	0.7777:0.1475:0.0748:0.0	.	740;740;745	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	I	745;740;740;251	ENSP00000348314:N745I;ENSP00000421593:N740I;ENSP00000412125:N740I;ENSP00000421744:N251I	ENSP00000348314:N745I	N	+	2	0	SPEF2	35736447	0.977000	0.34250	0.002000	0.10522	0.011000	0.07611	1.687000	0.37680	0.444000	0.26612	0.533000	0.62120	AAT	SPEF2	-	pfam_Adenylate_kin,superfamily_P-loop_NTPase	ENSG00000152582		0.403	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	-	0.00	34	0	A	NM_144722		35700690	+1	tier1	-	no_errors	ENST00000356031	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.005	T
SPTA1	6708	genome.wustl.edu	37	1	158612690	158612690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:158612690G>A	ENST00000368147.4	-	32	4699	c.4519C>T	c.(4519-4521)Cga>Tga	p.R1507*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1507					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCAAGGTCTCGGTAGAATTGT	0.473																																																	0													161.0	151.0	154.0					1																	158612690		1991	4169	6160	SO:0001587	stop_gained	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4519C>T	1.37:g.158612690G>A	ENSP00000357129:p.Arg1507*		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.R1507*	ENST00000368147.4	37	c.4519	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	G	43	9.829504	0.99273	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.2	3.34	0.38264	.	1.168590	0.06719	N	0.774558	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.0537	0.19799	0.1589:0.0:0.6915:0.1497	.	.	.	.	X	1507	.	ENSP00000357129:R1507X	R	-	1	2	SPTA1	156879314	1.000000	0.71417	0.402000	0.26371	0.269000	0.26545	2.522000	0.45572	0.786000	0.33708	0.655000	0.94253	CGA	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0.00	40	0	G	NM_003126		158612690	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	nonsense	9.52	38	4	SNP	0.395	A
SPTA1	6708	genome.wustl.edu	37	1	158637726	158637727	+	Frame_Shift_Ins	INS	-	-	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:158637726_158637727insA	ENST00000368147.4	-	15	2139_2140	c.1959_1960insT	c.(1957-1962)tatgccfs	p.A654fs		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	654					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGTCAGAGGCATAGTGACCAC	0.46																																																	0																																										SO:0001589	frameshift_variant	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1960dupT	1.37:g.158637727_158637727dupA	ENSP00000357129:p.Ala654fs		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Frame_Shift_Ins	INS	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.A653fs	ENST00000368147.4	37	c.1960_1959	CCDS41423.1	1																																																																																			SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.460	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3		0.00	55	0	-	NM_003126		158637727	-1	tier1		no_errors	ENST00000368147	ensembl	human	known	74_37	frame_shift_ins	24.56	43	14	INS	1.000:0.526	A
SPTLC2	9517	genome.wustl.edu	37	14	77987910	77987910	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr14:77987910G>T	ENST00000216484.2	-	10	1511	c.1318C>A	c.(1318-1320)Caa>Aaa	p.Q440K		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	440				KECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVV -> NGI TIHEVVQTRNTYHRFSPLSPVFSHQCLWIML (in Ref. 5). {ECO:0000305}.	ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	GCTAACTGTTGTACACACTCT	0.398																																																	0													106.0	92.0	97.0					14																	77987910		2203	4300	6503	SO:0001583	missense	0			AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.1318C>A	14.37:g.77987910G>T	ENSP00000216484:p.Gln440Lys		Q16685	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.Q440K	ENST00000216484.2	37	c.1318	CCDS9865.1	14	.	.	.	.	.	.	.	.	.	.	G	9.243	1.038840	0.19669	.	.	ENSG00000100596	ENST00000216484	D	0.94793	-3.52	5.73	5.73	0.89815	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.162812	0.56097	D	0.000039	D	0.88887	0.6559	N	0.16307	0.4	0.48341	D	0.999634	B	0.10296	0.003	B	0.11329	0.006	D	0.83912	0.0296	10	0.24483	T	0.36	-16.9975	15.3913	0.74747	0.0:0.1387:0.8613:0.0	.	440	O15270	SPTC2_HUMAN	K	440	ENSP00000216484:Q440K	ENSP00000216484:Q440K	Q	-	1	0	SPTLC2	77057663	1.000000	0.71417	0.996000	0.52242	0.050000	0.14768	5.231000	0.65327	2.712000	0.92718	0.557000	0.71058	CAA	SPTLC2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000100596		0.398	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC2	HGNC	protein_coding	OTTHUMT00000414030.1		0.00	43	0	G	NM_004863		77987910	-1			no_errors	ENST00000216484	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T
ST18	9705	genome.wustl.edu	37	8	53092844	53092844	+	Missense_Mutation	SNP	T	T	C			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr8:53092844T>C	ENST00000276480.7	-	9	798	c.115A>G	c.(115-117)Aag>Gag	p.K39E		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	39					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)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GCTGTTCTCTTCTTTGCCATG	0.423																																																	0													167.0	157.0	160.0					8																	53092844		2203	4300	6503	SO:0001583	missense	0			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.115A>G	8.37:g.53092844T>C	ENSP00000276480:p.Lys39Glu		Q17RY1	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.K39E	ENST00000276480.7	37	c.115	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	T	19.63	3.863646	0.71949	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.62105	0.25;0.05	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.78387	0.4275	M	0.72894	2.215	0.53688	D	0.999976	D	0.76494	0.999	D	0.80764	0.994	T	0.81008	-0.1127	10	0.87932	D	0	-25.265	15.873	0.79136	0.0:0.0:0.0:1.0	.	39	O60284	ST18_HUMAN	E	39	ENSP00000276480:K39E;ENSP00000428521:K39E	ENSP00000276480:K39E	K	-	1	0	ST18	53255397	1.000000	0.71417	0.996000	0.52242	0.283000	0.27025	7.466000	0.80914	2.155000	0.67459	0.533000	0.62120	AAG	ST18	-	NULL	ENSG00000147488		0.423	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	-	0.00	68	0	T			53092844	-1	tier1	-	no_errors	ENST00000276480	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	C
ST6GALNAC1	55808	genome.wustl.edu	37	17	74625793	74625793	+	Splice_Site	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr17:74625793C>T	ENST00000156626.7	-	2	331	c.132G>A	c.(130-132)agG>agA	p.R44R	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	44					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TGCGTTGATGCCTAGGGACAG	0.433																																																	0													89.0	85.0	86.0					17																	74625793		2203	4300	6503	SO:0001630	splice_region_variant	0			Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.132-1G>A	17.37:g.74625793C>T			Q6UW90|Q9NSC6	Silent	SNP	pfam_Glyco_trans_29	p.R44	ENST00000156626.7	37	c.132	CCDS11748.1	17																																																																																			ST6GALNAC1	-	NULL	ENSG00000070526		0.433	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC1	HGNC	protein_coding	OTTHUMT00000450974.1	-	0.00	25	0	C	NM_018414	Silent	74625793	-1	tier1	-	no_errors	ENST00000156626	ensembl	human	known	74_37	silent	40.00	9	6	SNP	0.530	T
STT3B	201595	genome.wustl.edu	37	3	31666481	31666481	+	Silent	SNP	A	A	G			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:31666481A>G	ENST00000295770.2	+	12	2012	c.1803A>G	c.(1801-1803)gtA>gtG	p.V601V		NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	601					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						ATGCACGAGTAATGTCTTGGT	0.383																																																	0													198.0	198.0	198.0					3																	31666481		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"""source of immunodominant MHC associated peptides"", ""dolichyl-diphosphooligosaccharide protein glycotransferase"""	608605	"""STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"""			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.1803A>G	3.37:g.31666481A>G			Q96JZ4|Q96KY7	Silent	SNP	pfam_Oligo_trans_STT3	p.V601	ENST00000295770.2	37	c.1803	CCDS2650.1	3																																																																																			STT3B	-	pfam_Oligo_trans_STT3	ENSG00000163527		0.383	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STT3B	HGNC	protein_coding	OTTHUMT00000253166.2	-	0.00	25	0	A	NM_178862		31666481	+1	tier1	-	no_errors	ENST00000295770	ensembl	human	known	74_37	silent	50.00	12	12	SNP	0.999	G
TAF7L	54457	genome.wustl.edu	37	X	100531458	100531458	+	Missense_Mutation	SNP	C	C	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chrX:100531458C>A	ENST00000372907.3	-	10	1019	c.1008G>T	c.(1006-1008)gaG>gaT	p.E336D	TAF7L_ENST00000372905.2_Intron|TAF7L_ENST00000324762.6_Intron|TAF7L_ENST00000356784.1_Missense_Mutation_p.E250D	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	336	Glu-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						catcctcatcctcatcatcat	0.393																																					Ovarian(104;431 1530 3210 15406 18594)												0													229.0	186.0	200.0					X																	100531458		2203	4300	6503	SO:0001583	missense	0			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.1008G>T	X.37:g.100531458C>A	ENSP00000361998:p.Glu336Asp		Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	pfam_TAFII55_prot_cons_reg	p.E336D	ENST00000372907.3	37	c.1008	CCDS35347.1	X	.	.	.	.	.	.	.	.	.	.	c	10.90	1.481599	0.26598	.	.	ENSG00000102387	ENST00000372907;ENST00000356784	T;T	0.04119	3.7;3.79	4.32	-5.59	0.02505	Armadillo-like helical (1);	0.966231	0.08422	N	0.948154	T	0.02156	0.0067	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.48328	-0.9045	10	0.24483	T	0.36	-0.2263	6.3701	0.21477	0.6807:0.1418:0.0918:0.0857	.	336	Q5H9L4	TAF7L_HUMAN	D	336;250	ENSP00000361998:E336D;ENSP00000349235:E250D	ENSP00000349235:E250D	E	-	3	2	TAF7L	100418114	0.429000	0.25530	0.000000	0.03702	0.479000	0.33129	-0.596000	0.05720	-0.835000	0.04234	-0.381000	0.06696	GAG	TAF7L	-	NULL	ENSG00000102387		0.393	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAF7L	HGNC	protein_coding	OTTHUMT00000057526.2	-	0.00	22	0	C			100531458	-1	tier1	-	no_errors	ENST00000372907	ensembl	human	known	74_37	missense	25.00	9	3	SNP	0.006	A
THRB	7068	genome.wustl.edu	37	3	24206692	24206692	+	Intron	DEL	C	C	-			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:24206692delC	ENST00000356447.4	-	5	568				THRB_ENST00000280696.5_Frame_Shift_Del_p.E52fs|THRB_ENST00000416420.1_Intron|THRB_ENST00000396671.2_Intron	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta						female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CAGGCCTGTTCCATATATATG	0.458																																					Melanoma(21;896 1043 15021 37958)												0													68.0	65.0	66.0					3																	24206692		876	1991	2867	SO:0001627	intron_variant	0				CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"""Nuclear hormone receptors"""	11799	protein-coding gene	gene with protein product	"""avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2"", ""oncogene ERBA2"", ""generalized resistance to thyroid hormone"", ""thyroid hormone receptor beta 1"""	190160	"""thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)"", ""pituitary resistance to thyroid hormone"", ""thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"""	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.284-12711G>-	3.37:g.24206692delC			B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Frame_Shift_Del	DEL	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.E52fs	ENST00000356447.4	37	c.154	CCDS2641.1	3																																																																																			THRB	-	NULL	ENSG00000151090		0.458	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	THRB	HGNC	protein_coding	OTTHUMT00000252877.3		0.00	40	0	C	NM_000461		24206692	-1	tier1		no_errors	ENST00000280696	ensembl	human	putative	74_37	frame_shift_del	15.38	11	2	DEL	1.000	-
TGFBR2	7048	genome.wustl.edu	37	3	30715615	30715615	+	Missense_Mutation	SNP	A	A	G	rs104893817		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:30715615A>G	ENST00000295754.5	+	5	1655	c.1273A>G	c.(1273-1275)Atg>Gtg	p.M425V	TGFBR2_ENST00000359013.4_Missense_Mutation_p.M450V	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	425	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TGCAAGATACATGGCTCCAGA	0.458																																																	0			GRCh37	CM060084	TGFBR2	M	rs104893817						121.0	112.0	115.0					3																	30715615		2203	4300	6503	SO:0001583	missense	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1273A>G	3.37:g.30715615A>G	ENSP00000295754:p.Met425Val		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,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,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.M450V	ENST00000295754.5	37	c.1348	CCDS2648.1	3	.	.	.	.	.	.	.	.	.	.	A	24.1	4.495639	0.85069	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.94232	-3.38;-3.38	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96632	0.8901	M	0.78049	2.395	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97069	0.9776	9	0.87932	D	0	.	16.5494	0.84464	1.0:0.0:0.0:0.0	.	425;450	P37173;D2JYI1	TGFR2_HUMAN;.	V	425;450;255	ENSP00000295754:M425V;ENSP00000351905:M450V	ENSP00000295754:M425V	M	+	1	0	TGFBR2	30690619	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.299000	0.77371	0.528000	0.53228	ATG	TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2,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	ENSG00000163513		0.458	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	-	0.00	50	0	A			30715615	+1	tier1	rs104893817	no_errors	ENST00000359013	ensembl	human	known	74_37	missense	41.18	20	14	SNP	1.000	G
TIMELESS	8914	genome.wustl.edu	37	12	56817448	56817448	+	Silent	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr12:56817448C>T	ENST00000553532.1	-	17	2160	c.2010G>A	c.(2008-2010)gaG>gaA	p.E670E	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000229201.4_Silent_p.E669E					timeless circadian clock									p.E670E(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						cctcctcctcctcttcttctt	0.527																																																	1	Substitution - coding silent(1)	kidney(1)											51.0	49.0	50.0					12																	56817448		2203	4300	6503	SO:0001819	synonymous_variant	0			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2010G>A	12.37:g.56817448C>T				Silent	SNP	pfam_TIMELESS_C,pfam_Timeless	p.E670	ENST00000553532.1	37	c.2010	CCDS8918.1	12																																																																																			TIMELESS	-	NULL	ENSG00000111602		0.527	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	-	0.00	31	0	C	NM_003920		56817448	-1	tier1	-	no_errors	ENST00000553532	ensembl	human	known	74_37	silent	20.00	12	3	SNP	0.863	T
TJP1	7082	genome.wustl.edu	37	15	30053420	30053420	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr15:30053420C>T	ENST00000346128.6	-	8	1406	c.932G>A	c.(931-933)aGc>aAc	p.S311N	TJP1_ENST00000495972.2_Missense_Mutation_p.S311N|TJP1_ENST00000545208.2_Missense_Mutation_p.S311N|TJP1_ENST00000356107.6_Missense_Mutation_p.S311N|TJP1_ENST00000400011.2_Missense_Mutation_p.S315N	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	311					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCGTGACCGGCTGCGGCGGGG	0.502																																					Melanoma(77;681 1843 6309 6570)												0													41.0	48.0	46.0					15																	30053420		1907	4121	6028	SO:0001583	missense	0				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.932G>A	15.37:g.30053420C>T	ENSP00000281537:p.Ser311Asn		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens	p.S311N	ENST00000346128.6	37	c.932	CCDS42007.1	15	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901865	0.72754	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.07327	3.21;3.37;3.29;3.2	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.28333	0.0700	M	0.68317	2.08	0.80722	D	1	P;B;B;D	0.71674	0.584;0.281;0.232;0.998	B;B;B;D	0.80764	0.177;0.263;0.077;0.994	T	0.00752	-1.1581	9	.	.	.	.	18.5207	0.90951	0.0:1.0:0.0:0.0	.	304;311;311;315	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	N	311;315;311;311;311	ENSP00000281537:S311N;ENSP00000382890:S315N;ENSP00000441202:S311N;ENSP00000348416:S311N	.	S	-	2	0	TJP1	27840712	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.640000	0.83355	2.463000	0.83235	0.585000	0.79938	AGC	TJP1	-	NULL	ENSG00000104067		0.502	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	HGNC	protein_coding	OTTHUMT00000268237.3	-	0.00	53	0	C	NM_003257		30053420	-1	tier1	-	no_errors	ENST00000346128	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T
TMED9	54732	genome.wustl.edu	37	5	177022337	177022337	+	Missense_Mutation	SNP	C	C	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr5:177022337C>A	ENST00000332598.6	+	5	685	c.628C>A	c.(628-630)Cag>Aag	p.Q210K		NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	210					COPI coating of Golgi vesicle (GO:0048205)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network transport vesicle (GO:0030140)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)			GTCCATTCTGCAGACCCTCAT	0.587																																																	0													79.0	75.0	76.0					5																	177022337		2203	4300	6503	SO:0001583	missense	0			AF441399	CCDS4428.1	5q35.3	2008-02-05			ENSG00000184840	ENSG00000184840			24878	protein-coding gene	gene with protein product						12477932	Standard	NM_017510		Approved	HSGP25L2G	uc003mhx.3	Q9BVK6	OTTHUMG00000130859	ENST00000332598.6:c.628C>A	5.37:g.177022337C>A	ENSP00000330945:p.Gln210Lys		Q14437|Q8WZ61	Missense_Mutation	SNP	pfam_GOLD,pfscan_GOLD	p.Q210K	ENST00000332598.6	37	c.628	CCDS4428.1	5	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977902	0.92982	.	.	ENSG00000184840	ENST00000332598	T	0.19669	2.13	5.26	5.26	0.73747	GOLD (1);	0.118324	0.64402	D	0.000013	T	0.58736	0.2143	H	0.95328	3.655	0.80722	D	1	P	0.50272	0.933	D	0.64687	0.928	T	0.71427	-0.4596	10	0.72032	D	0.01	-20.0628	16.3608	0.83267	0.0:1.0:0.0:0.0	.	210	Q9BVK6	TMED9_HUMAN	K	210	ENSP00000330945:Q210K	ENSP00000330945:Q210K	Q	+	1	0	TMED9	176954943	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	5.861000	0.69553	2.449000	0.82847	0.561000	0.74099	CAG	TMED9	-	pfam_GOLD	ENSG00000184840		0.587	TMED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED9	HGNC	protein_coding	OTTHUMT00000253433.1	-	0.00	47	0	C	NM_017510		177022337	+1	tier1	-	no_errors	ENST00000332598	ensembl	human	known	74_37	missense	68.00	8	17	SNP	1.000	A
TMEM199	147007	genome.wustl.edu	37	17	26685980	26685980	+	Missense_Mutation	SNP	A	A	G			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr17:26685980A>G	ENST00000292114.3	+	2	343	c.253A>G	c.(253-255)Atc>Gtc	p.I85V	POLDIP2_ENST00000003607.4_5'Flank|CTB-96E2.3_ENST00000591482.1_RNA|POLDIP2_ENST00000540200.1_5'Flank|MIR4723_ENST00000585070.1_RNA|TMEM199_ENST00000509083.1_Missense_Mutation_p.I85V|TMEM199_ENST00000395404.3_Intron|TMEM199_ENST00000581386.1_3'UTR|CTB-96E2.7_ENST00000577850.1_RNA	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	85						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGGCAGTGAAATCTATCTCCC	0.438																																																	0													136.0	129.0	131.0					17																	26685980		2203	4300	6503	SO:0001583	missense	0			AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498	ENST00000292114.3:c.253A>G	17.37:g.26685980A>G	ENSP00000292114:p.Ile85Val			Missense_Mutation	SNP	pfam_ATPase_Vma12	p.I85V	ENST00000292114.3	37	c.253	CCDS11228.1	17	.	.	.	.	.	.	.	.	.	.	A	17.82	3.483697	0.63962	.	.	ENSG00000244045	ENST00000292114;ENST00000509083	T;T	0.28454	1.61;1.61	5.63	4.52	0.55395	.	0.051459	0.85682	D	0.000000	T	0.31389	0.0795	L	0.43152	1.355	0.43522	D	0.995793	P;B	0.43788	0.817;0.084	P;B	0.45998	0.5;0.112	T	0.01925	-1.1246	10	0.25751	T	0.34	-11.8087	12.4077	0.55449	0.8592:0.1408:0.0:0.0	.	85;85	E9PBQ3;Q8N511	.;TM199_HUMAN	V	85	ENSP00000292114:I85V;ENSP00000427614:I85V	ENSP00000292114:I85V	I	+	1	0	TMEM199	23710107	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.634000	0.37123	0.933000	0.37291	0.533000	0.62120	ATC	TMEM199	-	pfam_ATPase_Vma12	ENSG00000244045		0.438	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM199	HGNC	protein_coding	OTTHUMT00000255676.2	-	0.00	64	0	A	NM_152464		26685980	+1	tier1	-	no_errors	ENST00000509083	ensembl	human	known	74_37	missense	50.00	13	13	SNP	0.998	G
TMEM67	91147	genome.wustl.edu	37	8	94821160	94821160	+	Silent	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr8:94821160C>T	ENST00000453321.3	+	24	2590	c.2532C>T	c.(2530-2532)gaC>gaT	p.D844D	TMEM67_ENST00000409623.3_Silent_p.D763D	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	844					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AACATTATGACAGAATTCATG	0.338																																																	0													60.0	57.0	58.0					8																	94821160		2203	4300	6503	SO:0001819	synonymous_variant	0			BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.2532C>T	8.37:g.94821160C>T			B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Silent	SNP	pfam_Meckelin,superfamily_Growth_fac_rcpt_N_dom	p.D844	ENST00000453321.3	37	c.2532	CCDS6258.2	8																																																																																			TMEM67	-	pfam_Meckelin	ENSG00000164953		0.338	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM67	HGNC	protein_coding	OTTHUMT00000329641.2	-	0.00	34	0	C	NM_153704		94821160	+1	tier1	-	no_errors	ENST00000453321	ensembl	human	known	74_37	silent	41.67	28	20	SNP	1.000	T
TNFRSF25	8718	genome.wustl.edu	37	1	6525238	6525238	+	Missense_Mutation	SNP	T	T	C			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:6525238T>C	ENST00000356876.3	-	3	292	c.205A>G	c.(205-207)Acc>Gcc	p.T69A	TNFRSF25_ENST00000351959.5_Missense_Mutation_p.T69A|TNFRSF25_ENST00000348333.3_Intron|TNFRSF25_ENST00000377782.3_Missense_Mutation_p.T69A|TNFRSF25_ENST00000461703.2_5'UTR|TNFRSF25_ENST00000351748.3_Intron	NM_003790.2|NM_148967.1	NP_003781.1|NP_683868.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	69					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|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)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		ACAAGGCAGGTGGAGTTGCCG	0.642																																																	0													59.0	56.0	57.0					1																	6525238		2203	4300	6503	SO:0001583	missense	0			U72763	CCDS71.1, CCDS72.1, CCDS73.1, CCDS74.1, CCDS75.1	1p36.2	2008-02-05	2002-12-20	2002-12-20	ENSG00000215788	ENSG00000215788		"""Tumor necrosis factor receptor superfamily"""	11910	protein-coding gene	gene with protein product		603366	"""tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)"""	TNFRSF12		9052839, 8934525	Standard	NM_003790		Approved	DR3, TRAMP, WSL-1, LARD, WSL-LR, DDR3, TR3, APO-3	uc001anh.3	Q93038	OTTHUMG00000000831	ENST00000356876.3:c.205A>G	1.37:g.6525238T>C	ENSP00000349341:p.Thr69Ala		B1ALX2|B1ALX3|B7ZLL7|O00275|O00276|O00277|O00278|O00279|O00280|O14865|O14866|P78507|P78515|Q17RU4|Q92983|Q93036|Q93037|Q99722|Q99830|Q99831|Q9BY86|Q9UME0|Q9UME1|Q9UME5	Missense_Mutation	SNP	pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_25,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg	p.T69A	ENST00000356876.3	37	c.205	CCDS71.1	1	.	.	.	.	.	.	.	.	.	.	t	11.80	1.746227	0.30955	.	.	ENSG00000215788	ENST00000356876;ENST00000377782;ENST00000351959	D;D;D	0.94092	-3.35;-3.35;-3.35	5.26	2.76	0.32466	TNFR/CD27/30/40/95 cysteine-rich region (2);	2.205680	0.03175	U	0.171285	D	0.90734	0.7092	L	0.55834	1.745	0.37286	D	0.908031	B;B;B	0.30236	0.274;0.168;0.146	B;B;B	0.33254	0.16;0.069;0.057	T	0.75306	-0.3364	10	0.07990	T	0.79	-3.5884	7.3407	0.26635	0.4376:0.0:0.0:0.5624	.	69;69;69	Q93038-11;Q93038-10;Q93038	.;.;TNR25_HUMAN	A	69	ENSP00000349341:T69A;ENSP00000367013:T69A;ENSP00000337713:T69A	ENSP00000337713:T69A	T	-	1	0	TNFRSF25	6447825	0.062000	0.20869	0.429000	0.26710	0.703000	0.40648	0.066000	0.14489	0.795000	0.33922	0.401000	0.26515	ACC	TNFRSF25	-	smart_TNFR/NGFR_Cys_rich_reg	ENSG00000215788		0.642	TNFRSF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF25	HGNC	protein_coding	OTTHUMT00000002259.1		0.00	69	0	T	NM_148965		6525238	-1			no_errors	ENST00000377782	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.671	C
TNFRSF8	943	genome.wustl.edu	37	1	12164486	12164486	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:12164486G>T	ENST00000263932.2	+	4	541	c.319G>T	c.(319-321)Gaa>Taa	p.E107*	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	107					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	CCGTGTCTGCGAATGTCGACC	0.582																																																	0													172.0	129.0	144.0					1																	12164486		2203	4300	6503	SO:0001587	stop_gained	0			M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.319G>T	1.37:g.12164486G>T	ENSP00000263932:p.Glu107*		B1AN79|B9EGD9|D3YTD8|Q6P4D9	Nonsense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8	p.E107*	ENST00000263932.2	37	c.319	CCDS144.1	1	.	.	.	.	.	.	.	.	.	.	.	19.95	3.922248	0.73213	.	.	ENSG00000120949	ENST00000263932	.	.	.	4.92	0.431	0.16523	.	0.202957	0.33712	N	0.004630	.	.	.	.	.	.	0.28251	N	0.925272	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-12.6194	7.7065	0.28653	0.0944:0.4978:0.4078:0.0	.	.	.	.	X	107	.	ENSP00000263932:E107X	E	+	1	0	TNFRSF8	12087073	0.877000	0.30153	0.195000	0.23364	0.083000	0.17756	0.707000	0.25704	0.297000	0.22615	-0.142000	0.14014	GAA	TNFRSF8	-	pfscan_TNFR/NGFR_Cys_rich_reg	ENSG00000120949		0.582	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF8	HGNC	protein_coding	OTTHUMT00000005130.1	-	0.00	57	0	G			12164486	+1	tier1	-	no_errors	ENST00000263932	ensembl	human	known	74_37	nonsense	28.12	23	9	SNP	0.439	T
TNFSF4	7292	genome.wustl.edu	37	1	173157682	173157682	+	Missense_Mutation	SNP	T	T	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:173157682T>A	ENST00000281834.3	-	2	316	c.180A>T	c.(178-180)caA>caT	p.Q60H	TNFSF4_ENST00000488053.1_5'UTR|TNFSF4_ENST00000367718.1_Missense_Mutation_p.Q10H	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	60					acute inflammatory response (GO:0002526)|CD4-positive, alpha-beta T cell costimulation (GO:0035783)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nitrogen dioxide (GO:0035714)|cellular response to prostaglandin E stimulus (GO:0071380)|chemokine (C-C motif) ligand 11 production (GO:0071954)|cholesterol metabolic process (GO:0008203)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|memory T cell activation (GO:0035709)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell activation (GO:0050871)|positive regulation of CD4-positive, alpha-beta T cell costimulation (GO:1900281)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-4-dependent isotype switching to IgE isotypes (GO:2000572)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of memory T cell activation (GO:2000568)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T-helper 2 cell activation (GO:2000570)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of type 2 immune response (GO:0002830)|regulation of adaptive immune response (GO:0002819)|regulation of inflammatory response (GO:0050727)|response to nitrogen dioxide (GO:0035713)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|T-helper 2 cell activation (GO:0035712)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						CTTTGATACTTTGAATTCGAG	0.313																																																	0													82.0	93.0	89.0					1																	173157682		2203	4299	6502	SO:0001583	missense	0			D90224	CCDS1306.1, CCDS72985.1	1q25	2008-07-31	2008-07-31		ENSG00000117586	ENSG00000117586		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11934	protein-coding gene	gene with protein product		603594	"""tax-transcriptionally activated glycoprotein 1, 34kD"""	TXGP1		1996093, 8076595	Standard	XM_005245475		Approved	OX-40L, gp34, CD252	uc001giw.3	P23510	OTTHUMG00000034838	ENST00000281834.3:c.180A>T	1.37:g.173157682T>A	ENSP00000281834:p.Gln60His		Q5JZA5|Q8IV74|Q9HCN9	Missense_Mutation	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom	p.Q60H	ENST00000281834.3	37	c.180	CCDS1306.1	1	.	.	.	.	.	.	.	.	.	.	T	14.66	2.602766	0.46423	.	.	ENSG00000117586	ENST00000367718;ENST00000281834;ENST00000545292	.	.	.	4.87	-0.44	0.12261	Tumour necrosis factor (1);Tumour necrosis factor-like (1);	0.450854	0.20879	N	0.084037	T	0.08223	0.0205	L	0.50333	1.59	0.29078	N	0.882898	P;P	0.43750	0.509;0.816	B;B	0.29942	0.066;0.109	T	0.18967	-1.0320	9	0.34782	T	0.22	-4.17	4.1387	0.10183	0.0:0.1921:0.3545:0.4533	.	60;10	P23510;Q8IV74	TNFL4_HUMAN;.	H	10;60;10	.	ENSP00000281834:Q60H	Q	-	3	2	TNFSF4	171424305	0.996000	0.38824	0.991000	0.47740	0.629000	0.37895	-0.074000	0.11450	0.098000	0.17522	0.533000	0.62120	CAA	TNFSF4	-	superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom	ENSG00000117586		0.313	TNFSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF4	HGNC	protein_coding	OTTHUMT00000084271.1	-	0.00	48	0	T			173157682	-1	tier1	-	no_errors	ENST00000281834	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.936	A
TNKS2	80351	genome.wustl.edu	37	10	93590750	93590750	+	Missense_Mutation	SNP	A	A	G			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:93590750A>G	ENST00000371627.4	+	10	1554	c.1175A>G	c.(1174-1176)aAc>aGc	p.N392S		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	392					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.N392S(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AAAGGAGCAAACATCAATGAA	0.294																																																	1	Substitution - Missense(1)	prostate(1)											100.0	92.0	95.0					10																	93590750		2203	4299	6502	SO:0001583	missense	0			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1175A>G	10.37:g.93590750A>G	ENSP00000360689:p.Asn392Ser		B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.N392S	ENST00000371627.4	37	c.1175	CCDS7417.1	10	.	.	.	.	.	.	.	.	.	.	A	14.25	2.479844	0.44044	.	.	ENSG00000107854	ENST00000371627	T	0.63580	-0.05	5.79	5.79	0.91817	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000002	T	0.59824	0.2222	L	0.58354	1.805	0.50467	D	0.999879	B	0.14012	0.009	B	0.11329	0.006	T	0.55127	-0.8189	10	0.29301	T	0.29	.	16.1199	0.81342	1.0:0.0:0.0:0.0	.	392	Q9H2K2	TNKS2_HUMAN	S	392	ENSP00000360689:N392S	ENSP00000360689:N392S	N	+	2	0	TNKS2	93580730	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.930000	0.92872	2.194000	0.70268	0.533000	0.62120	AAC	TNKS2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000107854		0.294	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	HGNC	protein_coding	OTTHUMT00000049374.1		0.00	24	0	A	NM_025235		93590750	+1			no_errors	ENST00000371627	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	G
TNN	63923	genome.wustl.edu	37	1	175086207	175086207	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:175086207G>C	ENST00000239462.4	+	10	2365	c.2252G>C	c.(2251-2253)aGg>aCg	p.R751T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	751	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGAGAGACCAGGGAGGTTCCG	0.647																																																	0													90.0	85.0	86.0					1																	175086207		2203	4300	6503	SO:0001583	missense	0			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2252G>C	1.37:g.175086207G>C	ENSP00000239462:p.Arg751Thr		B9EGP3|Q5R360	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.R751T	ENST00000239462.4	37	c.2252	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	G	8.219	0.802086	0.16397	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.56776	0.44	5.37	-4.73	0.03259	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.156080	0.06052	N	0.656761	T	0.55162	0.1903	L	0.50993	1.605	0.09310	N	1	P	0.35575	0.51	P	0.45913	0.497	T	0.57254	-0.7843	10	0.28530	T	0.3	.	14.7625	0.69617	0.7944:0.0:0.2056:0.0	.	751	Q9UQP3	TENN_HUMAN	T	751;574	ENSP00000239462:R751T	ENSP00000239462:R751T	R	+	2	0	TNN	173352830	0.001000	0.12720	0.007000	0.13788	0.148000	0.21650	-0.157000	0.10085	-0.854000	0.04131	-0.302000	0.09304	AGG	TNN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000120332		0.647	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1		0.00	82	0	G	XM_040527		175086207	+1			no_errors	ENST00000239462	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.008	C
TNRC6A	27327	genome.wustl.edu	37	16	24788375	24788375	+	Silent	SNP	A	A	G	rs573912317	byFrequency	TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr16:24788375A>G	ENST00000395799.3	+	5	414	c.285A>G	c.(283-285)ccA>ccG	p.P95P	TNRC6A_ENST00000315183.7_Silent_p.P95P	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	95	Gln-rich.|Interaction with argonaute family proteins.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ATcagcagccacagcagcagc	0.597													A|||	2	0.000399361	0.0	0.0	5008	,	,		12064	0.001		0.0	False		,,,				2504	0.001																0													27.0	36.0	33.0					16																	24788375		2161	4261	6422	SO:0001819	synonymous_variant	0			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.285A>G	16.37:g.24788375A>G			C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.P95	ENST00000395799.3	37	c.285	CCDS10624.2	16																																																																																			TNRC6A	-	NULL	ENSG00000090905		0.597	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	-	0.00	61	0	A	NM_020847		24788375	+1	tier1	-	no_errors	ENST00000395799	ensembl	human	known	74_37	silent	16.39	50	10	SNP	0.750	G
TP53	7157	genome.wustl.edu	37	17	7579361	7579361	+	Missense_Mutation	SNP	A	A	G			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr17:7579361A>G	ENST00000269305.4	-	4	515	c.326T>C	c.(325-327)tTc>tCc	p.F109S	TP53_ENST00000455263.2_Missense_Mutation_p.F109S|TP53_ENST00000413465.2_Missense_Mutation_p.F109S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.F109S|TP53_ENST00000445888.2_Missense_Mutation_p.F109S|TP53_ENST00000420246.2_Missense_Mutation_p.F109S	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	109	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.F109C(4)|p.F109S(4)|p.G59fs*23(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)	GCCCAGACGGAAACCGTAGCT	0.612		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	Substitution - Missense(8)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Complex - deletion inframe(2)	upper_aerodigestive_tract(5)|large_intestine(5)|stomach(4)|bone(4)|breast(4)|central_nervous_system(2)|lung(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|ovary(1)											62.0	59.0	60.0					17																	7579361		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.326T>C	17.37:g.7579361A>G	ENSP00000269305:p.Phe109Ser		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.F109S	ENST00000269305.4	37	c.326	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	23.6	4.433503	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	4.75	4.75	0.60458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.104685	0.64402	D	0.000004	D	0.99866	0.9937	M	0.90977	3.165	0.47009	D	0.999288	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;0.996;0.999;0.999;0.999;0.999;0.997	D	0.96432	0.9320	10	0.87932	D	0	-31.6488	12.5363	0.56144	1.0:0.0:0.0:0.0	.	70;109;109;109;109;109;109	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	109	ENSP00000410739:F109S;ENSP00000352610:F109S;ENSP00000269305:F109S;ENSP00000398846:F109S;ENSP00000391127:F109S;ENSP00000391478:F109S;ENSP00000424104:F109S;ENSP00000426252:F109S	ENSP00000269305:F109S	F	-	2	0	TP53	7520086	1.000000	0.71417	0.868000	0.34077	0.936000	0.57629	7.389000	0.79806	2.125000	0.65367	0.533000	0.62120	TTC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	91	0	A	NM_000546		7579361	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	65.67	23	44	SNP	0.980	G
TRIO	7204	genome.wustl.edu	37	5	14406743	14406743	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr5:14406743G>A	ENST00000344204.4	+	33	4945	c.4921G>A	c.(4921-4923)Gcc>Acc	p.A1641T	TRIO_ENST00000537187.1_Missense_Mutation_p.A1641T	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1641					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GATTTCCATCGCCTCACGGAC	0.567																																																	0													117.0	105.0	109.0					5																	14406743		2203	4300	6503	SO:0001583	missense	0			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.4921G>A	5.37:g.14406743G>A	ENSP00000339299:p.Ala1641Thr		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.A1641T	ENST00000344204.4	37	c.4921	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258665	0.59321	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.22539	1.95;1.95	5.47	5.47	0.80525	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.21801	0.0525	L	0.47016	1.485	0.80722	D	1	P;B	0.44734	0.842;0.251	B;B	0.37387	0.248;0.028	T	0.01715	-1.1289	10	0.35671	T	0.21	.	19.3513	0.94387	0.0:0.0:1.0:0.0	.	1641;1641	O75962-5;O75962	.;TRIO_HUMAN	T	1641;1641;1328	ENSP00000339299:A1641T;ENSP00000446348:A1641T	ENSP00000339299:A1641T	A	+	1	0	TRIO	14459743	1.000000	0.71417	0.954000	0.39281	0.491000	0.33493	8.021000	0.88750	2.571000	0.86741	0.650000	0.86243	GCC	TRIO	-	superfamily_SH3_domain	ENSG00000038382		0.567	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	-	0.00	39	0	G	NM_007118		14406743	+1	tier1	-	no_errors	ENST00000344204	ensembl	human	known	74_37	missense	42.31	15	11	SNP	1.000	A
TRIP11	9321	genome.wustl.edu	37	14	92470599	92470599	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr14:92470599G>T	ENST00000267622.4	-	11	4094	c.3721C>A	c.(3721-3723)Cag>Aag	p.Q1241K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1241					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCCTGAAGCTGGGCTGACTCG	0.413			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													77.0	63.0	68.0					14																	92470599		2203	4300	6503	SO:0001583	missense	0			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3721C>A	14.37:g.92470599G>T	ENSP00000267622:p.Gln1241Lys		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.Q1241K	ENST00000267622.4	37	c.3721	CCDS9899.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.63|12.63	1.994762|1.994762	0.35226|0.35226	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000554357|ENST00000267622;ENST00000542257	.|T	.|0.04502	.|3.61	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.180578	.|0.49916	.|D	.|0.000131	T|T	0.05823|0.05823	0.0152|0.0152	L|L	0.27053|0.27053	0.805|0.805	0.48830|0.48830	D|D	0.999718|0.999718	.|P;P	.|0.48089	.|0.873;0.905	.|B;B	.|0.42361	.|0.385;0.384	T|T	0.53989|0.53989	-0.8360|-0.8360	5|10	.|0.24483	.|T	.|0.36	.|.	19.3015|19.3015	0.94145|0.94145	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|977;1241	.|F5H1Z0;Q15643	.|.;TRIPB_HUMAN	Q|K	956|1241;977	.|ENSP00000267622:Q1241K	.|ENSP00000267622:Q1241K	P|Q	-|-	2|1	0|0	TRIP11|TRIP11	91540352|91540352	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.182000|0.182000	0.23217|0.23217	9.810000|9.810000	0.99221|0.99221	2.550000|2.550000	0.86006|0.86006	0.455000|0.455000	0.32223|0.32223	CCA|CAG	TRIP11	-	NULL	ENSG00000100815		0.413	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	-	0.00	38	0	G			92470599	-1	tier1	-	no_errors	ENST00000267622	ensembl	human	known	74_37	missense	25.00	30	10	SNP	1.000	T
TSC1	7248	genome.wustl.edu	37	9	135772902	135772902	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr9:135772902delT	ENST00000298552.3	-	21	2942	c.2721delA	c.(2719-2721)aaafs	p.K907fs	TSC1_ENST00000440111.2_Frame_Shift_Del_p.K907fs|TSC1_ENST00000545250.1_Frame_Shift_Del_p.K856fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	907					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CCAAAATCCGTTTTTGGGAGG	0.433			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	1	Unknown(1)	bone(1)											195.0	206.0	202.0					9																	135772902		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2721delA	9.37:g.135772902delT	ENSP00000298552:p.Lys907fs		B7Z897|Q5VVN5	Frame_Shift_Del	DEL	pfam_Hamartin,superfamily_ARM-type_fold	p.K907fs	ENST00000298552.3	37	c.2721	CCDS6956.1	9																																																																																			TSC1	-	NULL	ENSG00000165699		0.433	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1		0.00	42	0	T			135772902	-1	tier1		no_errors	ENST00000298552	ensembl	human	known	74_37	frame_shift_del	5.00	38	2	DEL	0.991	-
TTN	7273	genome.wustl.edu	37	2	179611959	179611959	+	Intron	SNP	C	C	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:179611959C>A	ENST00000591111.1	-	46	10585				TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Silent_p.G5056G|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			CTAGTGTCTCCCCTGGGGGTG	0.498																																																	0													63.0	67.0	65.0					2																	179611959		2203	4300	6503	SO:0001627	intron_variant	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.10361-5311G>T	2.37:g.179611959C>A			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	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G5056	ENST00000591111.1	37	c.15168		2																																																																																			TTN	-	NULL	ENSG00000155657		0.498	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	57	0	C	NM_133378		179611959	-1	tier1	-	no_errors	ENST00000360870	ensembl	human	known	74_37	silent	72.46	19	50	SNP	0.970	A
TUBB1	81027	genome.wustl.edu	37	20	57599831	57599831	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr20:57599831G>A	ENST00000217133.1	+	4	1618	c.1349G>A	c.(1348-1350)gGa>gAa	p.G450E		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	450					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GAAGATAAGGGACATTAACTG	0.473																																																	0													54.0	49.0	51.0					20																	57599831		2194	4279	6473	SO:0001583	missense	0			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.1349G>A	20.37:g.57599831G>A	ENSP00000217133:p.Gly450Glu			Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin	p.G450E	ENST00000217133.1	37	c.1349	CCDS13475.1	20	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821573	0.32237	.	.	ENSG00000101162	ENST00000217133	T	0.78481	-1.18	5.22	-1.7	0.08159	.	8.207450	0.00397	N	0.000051	T	0.60547	0.2277	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53443	-0.8438	10	0.87932	D	0	.	7.1453	0.25579	0.4129:0.1921:0.3951:0.0	.	450	Q9H4B7	TBB1_HUMAN	E	450	ENSP00000217133:G450E	ENSP00000217133:G450E	G	+	2	0	TUBB1	57033226	0.023000	0.18921	0.000000	0.03702	0.007000	0.05969	0.542000	0.23222	-0.624000	0.05611	-0.150000	0.13652	GGA	TUBB1	-	NULL	ENSG00000101162		0.473	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB1	HGNC	protein_coding	OTTHUMT00000079903.1	-	0.00	37	0	G	NM_030773		57599831	+1	tier1	-	no_errors	ENST00000217133	ensembl	human	known	74_37	missense	25.00	15	5	SNP	0.000	A
TUBB8P7	197331	genome.wustl.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G	rs567602838	byFrequency	TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTAGGTAAAGTGGGGAAGCAG	0.483													.|||	3	0.000599042	0.0015	0.0	5008	,	,		21669	0.0		0.0	False		,,,				2504	0.001																0																																												0					16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162620T>G				RNA	SNP	-	NULL	ENST00000564451.1	37	NULL		16																																																																																			TUBB8P7	-	-	ENSG00000261812		0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	TUBB8P7	HGNC	polymorphic_pseudogene	OTTHUMT00000420856.1		0.00	106	0	T	NG_002334		90162620	+1			no_errors	ENST00000564451	ensembl	human	known	74_37	rna	5.36	53	3	SNP	0.026	G
UBE2H	7328	genome.wustl.edu	37	7	129498753	129498753	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr7:129498753G>T	ENST00000355621.3	-	4	627	c.234C>A	c.(232-234)aaC>aaA	p.N78K	UBE2H_ENST00000473814.2_Intron	NM_001202498.1|NM_003344.3	NP_001189427.1|NP_003335.1	P62256	UBE2H_HUMAN	ubiquitin-conjugating enzyme E2H	78					protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1)	10	Melanoma(18;0.0435)					CTTCATCAATGTTGGGATGGA	0.308																																																	0													74.0	74.0	74.0					7																	129498753		2202	4299	6501	SO:0001583	missense	0			BC006277	CCDS5814.1, CCDS47710.1	7q32	2012-07-20	2011-05-19		ENSG00000186591	ENSG00000186591	6.3.2.19	"""Ubiquitin-conjugating enzymes E2"""	12484	protein-coding gene	gene with protein product	"""GID complex subunit 3, UBC8 homolog (S. cerevisiae)"""	601082	"""ubiquitin-conjugating enzyme E2H (homologous to yeast UBC8)"", ""ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)"""			8132613	Standard	NM_003344		Approved	UBCH, UBC8, GID3	uc003vpf.2	P62256	OTTHUMG00000157650	ENST00000355621.3:c.234C>A	7.37:g.129498753G>T	ENSP00000347836:p.Asn78Lys		A4D1L6|C9JY93|P37286|Q7Z6F4	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.N78K	ENST00000355621.3	37	c.234	CCDS5814.1	7	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667031	0.67814	.	.	ENSG00000186591	ENST00000355621;ENST00000496698;ENST00000472396;ENST00000490974	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.4	5.4	0.78164	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.84061	0.5389	H	0.99847	4.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88974	0.3403	10	0.87932	D	0	-14.2633	10.4802	0.44689	0.0888:0.0:0.9112:0.0	.	78	P62256	UBE2H_HUMAN	K	78;45;78;94	ENSP00000347836:N78K;ENSP00000417681:N45K;ENSP00000419689:N78K;ENSP00000419750:N94K	ENSP00000347836:N78K	N	-	3	2	UBE2H	129285989	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.340000	0.59328	2.693000	0.91896	0.650000	0.86243	AAC	UBE2H	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000186591		0.308	UBE2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2H	HGNC	protein_coding	OTTHUMT00000349327.2	-	0.00	42	0	G	NM_003344		129498753	-1	tier1	-	no_errors	ENST00000355621	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T
UGT2B17	7367	genome.wustl.edu	37	4	69403558	69403558	+	Nonsense_Mutation	SNP	G	G	A	rs267600213		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr4:69403558G>A	ENST00000317746.2	-	6	1420	c.1378C>T	c.(1378-1380)Cga>Tga	p.R460*		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	460					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	AAGACTGCTCGATCCAGGGGC	0.428																																					Melanoma(18;649 833 28984 37818 38500)												0													105.0	102.0	103.0					4																	69403558		2094	3942	6036	SO:0001587	stop_gained	0			U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"""UDP glucuronosyltransferases"""	12547	protein-coding gene	gene with protein product		601903	"""UDP glycosyltransferase 2 family, polypeptide B17"""			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.1378C>T	4.37:g.69403558G>A	ENSP00000320401:p.Arg460*			Nonsense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.R460*	ENST00000317746.2	37	c.1378	CCDS3523.1	4	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186817	0.38609	.	.	ENSG00000197888	ENST00000317746	.	.	.	2.85	0.823	0.18812	.	0.333144	0.25250	U	0.032028	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3396	0.32235	0.0:0.0:0.3905:0.6095	.	.	.	.	X	460	.	ENSP00000320401:R460X	R	-	1	2	UGT2B17	69086153	0.992000	0.36948	0.198000	0.23420	0.206000	0.24218	0.893000	0.28336	0.009000	0.14813	0.195000	0.17529	CGA	UGT2B17	-	pfam_UDP_glucos_trans	ENSG00000197888		0.428	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B17	HGNC	protein_coding	OTTHUMT00000251436.1	-	0.00	71	0	G	NM_001077		69403558	-1	tier1	-	no_errors	ENST00000317746	ensembl	human	known	74_37	nonsense	68.18	14	30	SNP	0.229	A
USP34	9736	genome.wustl.edu	37	2	61633028	61633028	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:61633028C>G	ENST00000398571.2	-	3	443	c.367G>C	c.(367-369)Gaa>Caa	p.E123Q		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	123					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.E123K(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GATTTTTTTTCTATTGATTTT	0.343																																																	1	Substitution - Missense(1)	lung(1)											133.0	117.0	122.0					2																	61633028		1809	4062	5871	SO:0001583	missense	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.367G>C	2.37:g.61633028C>G	ENSP00000381577:p.Glu123Gln		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.E123Q	ENST00000398571.2	37	c.367	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863113	0.32884	.	.	ENSG00000115464	ENST00000398571	T	0.15139	2.45	6.17	6.17	0.99709	.	0.000000	0.24635	U	0.036852	T	0.10766	0.0263	N	0.12182	0.205	0.33518	D	0.591998	P	0.37466	0.596	B	0.26969	0.075	T	0.11567	-1.0582	10	0.30854	T	0.27	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	123	Q70CQ2	UBP34_HUMAN	Q	123	ENSP00000381577:E123Q	ENSP00000381577:E123Q	E	-	1	0	USP34	61486532	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	4.994000	0.63901	2.941000	0.99782	0.655000	0.94253	GAA	USP34	-	NULL	ENSG00000115464		0.343	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4		0.00	47	0	C			61633028	-1			no_errors	ENST00000398571	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	G
USP8	9101	genome.wustl.edu	37	15	50774176	50774176	+	Frame_Shift_Del	DEL	A	A	-			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr15:50774176delA	ENST00000396444.3	+	11	2055	c.1717delA	c.(1717-1719)aaafs	p.K573fs	USP8_ENST00000307179.4_Frame_Shift_Del_p.K573fs|USP8_ENST00000425032.3_Frame_Shift_Del_p.K496fs|USP8_ENST00000433963.1_Frame_Shift_Del_p.K573fs	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	573					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AGATAGGGGGAAAAGGTGTCC	0.428																																																	0													56.0	54.0	55.0					15																	50774176		2196	4294	6490	SO:0001589	frameshift_variant	0			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.1717delA	15.37:g.50774176delA	ENSP00000379721:p.Lys573fs		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Frame_Shift_Del	DEL	pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67	p.R574fs	ENST00000396444.3	37	c.1717	CCDS10137.1	15																																																																																			USP8	-	NULL	ENSG00000138592		0.428	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1		0.00	35	0	A	NM_005154		50774176	+1	tier1		no_errors	ENST00000307179	ensembl	human	known	74_37	frame_shift_del	6.25	30	2	DEL	1.000	-
VPS13C	54832	genome.wustl.edu	37	15	62169209	62169209	+	Missense_Mutation	SNP	T	T	C			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr15:62169209T>C	ENST00000261517.5	-	75	10260	c.10187A>G	c.(10186-10188)cAg>cGg	p.Q3396R	VPS13C_ENST00000395898.3_Missense_Mutation_p.Q3353R|VPS13C_ENST00000395896.4_Missense_Mutation_p.Q3396R|VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000249837.3_Missense_Mutation_p.Q3353R	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CCATATAAGCTGATCTCTCTT	0.294																																																	0													107.0	116.0	113.0					15																	62169209		2203	4294	6497	SO:0001583	missense	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.10187A>G	15.37:g.62169209T>C	ENSP00000261517:p.Gln3396Arg			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.Q3396R	ENST00000261517.5	37	c.10187	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	T	17.02	3.282356	0.59867	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.77877	-1.13;-1.13;-1.13	5.06	5.06	0.68205	.	0.112630	0.64402	D	0.000009	D	0.85856	0.5794	M	0.80982	2.52	0.53688	D	0.999975	D;P;D;P	0.57257	0.963;0.951;0.979;0.84	P;P;P;P	0.58721	0.784;0.743;0.844;0.477	D	0.87570	0.2477	10	0.59425	D	0.04	.	13.6621	0.62374	0.0:0.0:0.0:1.0	.	3353;3396;3353;3396	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	R	3353;3396;3396;3396	ENSP00000249837:Q3353R;ENSP00000261517:Q3396R;ENSP00000379233:Q3396R	ENSP00000249837:Q3353R	Q	-	2	0	VPS13C	59956501	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	6.901000	0.75693	2.031000	0.59945	0.477000	0.44152	CAG	VPS13C	-	NULL	ENSG00000129003		0.294	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1		0.00	35	0	T	NM_017684		62169209	-1			no_errors	ENST00000261517	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	C
VPS13D	55187	genome.wustl.edu	37	1	12336369	12336369	+	Silent	SNP	T	T	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:12336369T>A	ENST00000358136.3	+	19	2854	c.2724T>A	c.(2722-2724)acT>acA	p.T908T	VPS13D_ENST00000356315.4_Silent_p.T908T	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAATGAAAACTTCTGACACTC	0.403											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													44.0	44.0	44.0					1																	12336369		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.2724T>A	1.37:g.12336369T>A		679		Silent	SNP	pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.T908	ENST00000358136.3	37	c.2724	CCDS30588.1	1																																																																																			VPS13D	-	NULL	ENSG00000048707		0.403	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	-	0.00	28	0	T	NM_015378		12336369	+1	tier1	-	no_errors	ENST00000358136	ensembl	human	known	74_37	silent	25.00	15	5	SNP	0.022	A
WDR18	57418	genome.wustl.edu	37	19	994323	994323	+	Missense_Mutation	SNP	A	A	G			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:994323A>G	ENST00000251289.5	+	10	1302	c.1279A>G	c.(1279-1281)Atc>Gtc	p.I427V	WDR18_ENST00000587001.2_Missense_Mutation_p.I404V	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	427					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGCGCTTCATCACGCGGCC	0.711																																																	0													57.0	43.0	48.0					19																	994323		2195	4297	6492	SO:0001583	missense	0				CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"""WD repeat domain containing"""	17956	protein-coding gene	gene with protein product	"""Involved in Processing ITS2 3 homolog (S. cerevisiae)"""					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.1279A>G	19.37:g.994323A>G	ENSP00000251289:p.Ile427Val		O60390|Q9BWR2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.I427V	ENST00000251289.5	37	c.1279	CCDS12051.1	19	.	.	.	.	.	.	.	.	.	.	A	16.63	3.176924	0.57692	.	.	ENSG00000065268	ENST00000251289	T	0.70399	-0.48	3.66	1.43	0.22495	.	0.070359	0.56097	D	0.000028	T	0.65228	0.2671	L	0.60455	1.87	0.29206	N	0.874929	P	0.39809	0.689	B	0.42916	0.402	T	0.59773	-0.7391	10	0.40728	T	0.16	.	7.6129	0.28142	0.5751:0.4249:0.0:0.0	.	427	Q9BV38	WDR18_HUMAN	V	427	ENSP00000251289:I427V	ENSP00000251289:I427V	I	+	1	0	WDR18	945323	1.000000	0.71417	0.657000	0.29651	0.950000	0.60333	2.411000	0.44600	0.046000	0.15833	0.334000	0.21626	ATC	WDR18	-	NULL	ENSG00000065268		0.711	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR18	HGNC	protein_coding	OTTHUMT00000458225.2	-	0.00	37	0	A			994323	+1	tier1	-	no_errors	ENST00000251289	ensembl	human	known	74_37	missense	32.00	17	8	SNP	0.995	G
WDR49	151790	genome.wustl.edu	37	3	167371112	167371112	+	5'UTR	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:167371112G>A	ENST00000308378.3	-	0	177				WDR49_ENST00000479765.1_Silent_p.G34G	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49											breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GCAGGCCTGTGCCATAGTCTT	0.443																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.-129C>T	3.37:g.167371112G>A			Q8N297	Silent	SNP	NULL	p.G34	ENST00000308378.3	37	c.102	CCDS3201.1	3																																																																																			WDR49	-	NULL	ENSG00000174776		0.443	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR49	HGNC	protein_coding	OTTHUMT00000350592.3	-	0.00	50	0	G	NM_178824		167371112	-1	tier1	-	no_errors	ENST00000471198	ensembl	human	known	74_37	silent	8.79	82	8	SNP	0.000	A
CFAP57	149465	genome.wustl.edu	37	1	43708938	43708938	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:43708938G>A	ENST00000372492.4	+	22	3770	c.3446G>A	c.(3445-3447)aGg>aAg	p.R1149K		NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		1149										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGCTCCGCAGGGAGCTGAAG	0.493																																																	0																																										SO:0001583	missense	0																														ENST00000372492.4:c.3446G>A	1.37:g.43708938G>A	ENSP00000361570:p.Arg1149Lys		A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1149K	ENST00000372492.4	37	c.3446		1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681206	0.47886	.	.	ENSG00000243710	ENST00000372492	T	0.34275	1.37	5.56	5.56	0.83823	.	0.373083	0.25112	N	0.033056	T	0.33527	0.0866	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.03993	-1.0986	7	0.11794	T	0.64	-6.2288	13.2406	0.59995	0.0822:0.0:0.9178:0.0	.	.	.	.	K	1149	ENSP00000361570:R1149K	ENSP00000361570:R1149K	R	+	2	0	WDR65	43481525	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.369000	0.52365	2.607000	0.88179	0.563000	0.77884	AGG	WDR65	-	superfamily_Quinonprotein_ADH-like_supfam	ENSG00000243710		0.493	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	WDR65	HGNC	protein_coding	OTTHUMT00000384325.1	-	0.00	45	0	G			43708938	+1	tier1	-	no_errors	ENST00000372492	ensembl	human	novel	74_37	missense	21.74	36	10	SNP	0.996	A
XIRP1	165904	genome.wustl.edu	37	3	39227196	39227196	+	Silent	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:39227196C>T	ENST00000340369.3	-	2	3969	c.3741G>A	c.(3739-3741)ccG>ccA	p.P1247P	XIRP1_ENST00000396251.1_Intron|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1247	Pro-rich.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TATGGGGGTGCGGGCTGGCAC	0.637																																																	0													28.0	34.0	32.0					3																	39227196		2203	4299	6502	SO:0001819	synonymous_variant	0			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3741G>A	3.37:g.39227196C>T			A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	pfam_Actin-binding_Xin_repeat	p.P1247	ENST00000340369.3	37	c.3741	CCDS2683.1	3																																																																																			XIRP1	-	NULL	ENSG00000168334		0.637	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	HGNC	protein_coding	OTTHUMT00000254065.1		0.00	66	0	C	XM_093522		39227196	-1			no_errors	ENST00000340369	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.999	T
XKR4	114786	genome.wustl.edu	37	8	56436772	56436772	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr8:56436772G>A	ENST00000327381.6	+	3	2039	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	647						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GTTGGAGTACGAAACCACTTT	0.488																																																	0													75.0	66.0	69.0					8																	56436772		2203	4300	6503	SO:0001583	missense	0			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1939G>A	8.37:g.56436772G>A	ENSP00000328326:p.Glu647Lys		Q96PZ8	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.E647K	ENST00000327381.6	37	c.1939	CCDS34893.1	8	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457043	0.84317	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.90788	-2.73	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.94948	0.8366	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.95084	0.8216	10	0.87932	D	0	-14.1593	19.516	0.95165	0.0:0.0:1.0:0.0	.	647	Q5GH76	XKR4_HUMAN	K	647	ENSP00000328326:E647K	ENSP00000328326:E647K	E	+	1	0	XKR4	56599326	1.000000	0.71417	0.969000	0.41365	0.726000	0.41606	9.790000	0.99075	2.623000	0.88846	0.655000	0.94253	GAA	XKR4	-	NULL	ENSG00000206579		0.488	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	-	0.00	43	0	G	NM_052898		56436772	+1	tier1	-	no_errors	ENST00000327381	ensembl	human	known	74_37	missense	40.00	33	22	SNP	1.000	A
ZDHHC13	54503	genome.wustl.edu	37	11	19173823	19173823	+	Missense_Mutation	SNP	A	A	C			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr11:19173823A>C	ENST00000446113.2	+	7	824	c.703A>C	c.(703-705)Aag>Cag	p.K235Q	ZDHHC13_ENST00000532812.1_3'UTR|ZDHHC13_ENST00000399351.3_Missense_Mutation_p.K105Q	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	235					metabolic process (GO:0008152)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						TGCAGTTGATAAGCTTTTGGA	0.363																																																	0													137.0	125.0	129.0					11																	19173823		1856	4099	5955	SO:0001583	missense	0			AB024495	CCDS44550.1, CCDS44551.1	11p15.1	2013-01-10			ENSG00000177054	ENSG00000177054		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18413	protein-coding gene	gene with protein product		612815				18794299	Standard	NM_001001483		Approved	FLJ10852, FLJ10941, HIP14L	uc001mpi.3	Q8IUH4	OTTHUMG00000166099	ENST00000446113.2:c.703A>C	11.37:g.19173823A>C	ENSP00000400113:p.Lys235Gln		Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase	p.K235Q	ENST00000446113.2	37	c.703	CCDS44550.1	11	.	.	.	.	.	.	.	.	.	.	A	17.59	3.427236	0.62733	.	.	ENSG00000177054	ENST00000446113;ENST00000399351	T;T	0.64991	-0.13;-0.13	5.47	5.47	0.80525	Ankyrin repeat-containing domain (4);	0.298588	0.35615	N	0.003087	T	0.57227	0.2039	N	0.13168	0.305	0.26652	N	0.972075	D	0.63880	0.993	P	0.61477	0.889	T	0.53521	-0.8427	10	0.56958	D	0.05	-5.4335	6.29	0.21054	0.6365:0.2831:0.0804:0.0	.	235	Q8IUH4	ZDH13_HUMAN	Q	235;105	ENSP00000400113:K235Q;ENSP00000382288:K105Q	ENSP00000382288:K105Q	K	+	1	0	ZDHHC13	19130399	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.157000	0.31724	2.087000	0.62958	0.482000	0.46254	AAG	ZDHHC13	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000177054		0.363	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	ZDHHC13	HGNC	protein_coding	OTTHUMT00000387821.1	-	0.00	36	0	A	NM_019028		19173823	+1	tier1	-	no_errors	ENST00000446113	ensembl	human	known	74_37	missense	33.87	41	21	SNP	1.000	C
ZEB2	9839	genome.wustl.edu	37	2	145156077	145156077	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:145156077G>T	ENST00000558170.2	-	8	3861	c.2677C>A	c.(2677-2679)Cct>Act	p.P893T	ZEB2_ENST00000539609.3_Missense_Mutation_p.P869T|ZEB2_ENST00000409487.3_Missense_Mutation_p.P893T|ZEB2_ENST00000303660.4_Missense_Mutation_p.P893T	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	893					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.P893S(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTGTATAAAGGTTTGGCACTA	0.438																																					Melanoma(33;1235 1264 5755 16332)												1	Substitution - Missense(1)	prostate(1)											168.0	160.0	162.0					2																	145156077		2203	4300	6503	SO:0001583	missense	0			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2677C>A	2.37:g.145156077G>T	ENSP00000454157:p.Pro893Thr		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.P893T	ENST00000558170.2	37	c.2677	CCDS2186.1	2	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822484	0.50739	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.15603	2.45;2.41;2.41	5.96	5.08	0.68730	.	0.092903	0.85682	N	0.000000	T	0.39517	0.1081	M	0.68593	2.085	0.80722	D	1	D;B;B;B	0.76494	0.999;0.001;0.096;0.096	D;B;B;B	0.65140	0.932;0.004;0.064;0.064	T	0.26608	-1.0098	10	0.59425	D	0.04	-1.6034	16.3329	0.83049	0.0:0.0:0.8604:0.1396	.	869;758;892;893	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	T	869;893;893	ENSP00000443792:P869T;ENSP00000302501:P893T;ENSP00000386854:P893T	ENSP00000302501:P893T	P	-	1	0	ZEB2	144872547	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.968000	0.87980	1.489000	0.48450	0.655000	0.94253	CCT	ZEB2	-	NULL	ENSG00000169554		0.438	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5		0.00	28	0	G	NM_014795		145156077	-1			no_errors	ENST00000303660	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T
ZNF208	7757	genome.wustl.edu	37	19	22154522	22154522	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:22154522C>T	ENST00000397126.4	-	4	3462	c.3314G>A	c.(3313-3315)aGa>aAa	p.R1105K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R977I(2)|p.R1105I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGTATGAATTCTCTTATGTTC	0.393																																																	3	Substitution - Missense(3)	large_intestine(3)											65.0	68.0	67.0					19																	22154522		2086	4239	6325	SO:0001583	missense	0			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3314G>A	19.37:g.22154522C>T	ENSP00000380315:p.Arg1105Lys			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.R1105K	ENST00000397126.4	37	c.3314	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	C	7.902	0.734632	0.15574	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.02197	4.4	2.59	1.06	0.20224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02649	0.0080	.	.	.	0.09310	N	1	B	0.29627	0.252	B	0.34590	0.186	T	0.45411	-0.9263	8	0.45353	T	0.12	.	9.2481	0.37539	0.0:0.8399:0.0:0.16	.	977	O43345	ZN208_HUMAN	K	1105;977	ENSP00000380315:R1105K	ENSP00000380315:R1105K	R	-	2	0	ZNF208	21946362	0.000000	0.05858	0.003000	0.11579	0.124000	0.20399	-0.834000	0.04391	1.029000	0.39812	0.297000	0.19635	AGA	ZNF208	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160321		0.393	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1		0.00	40	0	C	NM_007153		22154522	-1			no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	5.88	32	2	SNP	0.000	T
ZNF175	7728	genome.wustl.edu	37	19	52090212	52090212	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:52090212G>C	ENST00000262259.2	+	5	986	c.628G>C	c.(628-630)Gaa>Caa	p.E210Q	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	210					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GCTGAACCTAGAAGTGAACGG	0.463																																																	0													83.0	78.0	80.0					19																	52090212		2203	4299	6502	SO:0001583	missense	0			D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.628G>C	19.37:g.52090212G>C	ENSP00000262259:p.Glu210Gln		A8K9H2	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.E210Q	ENST00000262259.2	37	c.628	CCDS12837.1	19	.	.	.	.	.	.	.	.	.	.	G	9.475	1.096541	0.20552	.	.	ENSG00000105497	ENST00000262259	T	0.07216	3.21	2.73	1.59	0.23543	.	.	.	.	.	T	0.03263	0.0095	N	0.08118	0	0.51233	D	0.999916	B	0.28760	0.221	B	0.27076	0.076	T	0.47368	-0.9123	9	0.12766	T	0.61	.	4.9517	0.14017	0.202:0.0:0.798:0.0	.	210	Q9Y473	ZN175_HUMAN	Q	210	ENSP00000262259:E210Q	ENSP00000262259:E210Q	E	+	1	0	ZNF175	56782024	0.000000	0.05858	0.803000	0.32268	0.365000	0.29674	0.647000	0.24812	0.416000	0.25844	-0.345000	0.07892	GAA	ZNF175	-	NULL	ENSG00000105497		0.463	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF175	HGNC	protein_coding	OTTHUMT00000396205.1	-	0.00	45	0	G	NM_007147		52090212	+1	tier1	-	no_errors	ENST00000262259	ensembl	human	known	74_37	missense	20.00	28	7	SNP	0.802	C
ZNF519	162655	genome.wustl.edu	37	18	14105336	14105336	+	Missense_Mutation	SNP	C	C	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr18:14105336C>A	ENST00000590202.1	-	3	1355	c.1203G>T	c.(1201-1203)gaG>gaT	p.E401D	ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	401					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TGAAAGGTTTCTCTCCAGTAT	0.403																																																	0													96.0	97.0	96.0					18																	14105336		2203	4300	6503	SO:0001583	missense	0			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.1203G>T	18.37:g.14105336C>A	ENSP00000464872:p.Glu401Asp			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.E401D	ENST00000590202.1	37	c.1203	CCDS32797.1	18	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768403	0.49680	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	0.646	0.17789	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22820	0.0551	N	0.21508	0.67	0.25065	N	0.991036	P	0.44044	0.825	B	0.39706	0.307	T	0.13602	-1.0503	8	0.87932	D	0	.	7.2226	0.25997	0.0:0.9999:0.0:1.0E-4	.	401	Q8TB69	ZN519_HUMAN	D	401	.	ENSP00000307908:E401D	E	-	3	2	ZNF519	14095336	0.916000	0.31088	0.688000	0.30117	0.520000	0.34377	0.415000	0.21181	0.661000	0.30985	0.089000	0.15464	GAG	ZNF519	-	pfscan_Znf_C2H2	ENSG00000175322		0.403	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF519	HGNC	protein_coding	OTTHUMT00000459037.1		0.00	45	0	C	NM_145287		14105336	-1			no_errors	ENST00000590202	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	A
ZNF579	163033	genome.wustl.edu	37	19	56090030	56090030	+	Silent	SNP	G	G	A			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:56090030G>A	ENST00000325421.4	-	2	1004	c.976C>T	c.(976-978)Ctg>Ttg	p.L326L	CTD-2537I9.5_ENST00000589396.1_lincRNA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		AGCGGGGCCAGCAGGCTGAGG	0.756																																																	0													10.0	15.0	13.0					19																	56090030		2134	4160	6294	SO:0001819	synonymous_variant	0			AK092772	CCDS12927.1	19q13.42	2013-09-20			ENSG00000218891	ENSG00000218891		"""Zinc fingers, C2H2-type"""	26646	protein-coding gene	gene with protein product							Standard	NM_152600		Approved	FLJ35453	uc002qlh.3	Q8NAF0	OTTHUMG00000180857	ENST00000325421.4:c.976C>T	19.37:g.56090030G>A				Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L326	ENST00000325421.4	37	c.976	CCDS12927.1	19																																																																																			ZNF579	-	NULL	ENSG00000218891		0.756	ZNF579-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF579	HGNC	protein_coding	OTTHUMT00000453348.1		0.00	21	0	G	NM_152600		56090030	-1			no_errors	ENST00000325421	ensembl	human	known	74_37	silent	21.43	11	3	SNP	0.961	A
ZSCAN32	54925	genome.wustl.edu	37	16	3440513	3440513	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr16:3440513C>T	ENST00000396852.4	-	4	844	c.537G>A	c.(535-537)tgG>tgA	p.W179*	ZSCAN32_ENST00000439568.2_Intron|ZSCAN32_ENST00000422427.2_Intron|ZSCAN32_ENST00000396846.3_Nonsense_Mutation_p.W179*|ZSCAN32_ENST00000573830.1_Intron|ZSCAN32_ENST00000574940.1_Nonsense_Mutation_p.W179*|ZSCAN32_ENST00000304926.3_5'UTR	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	179					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)										GAGGAGCAAGCCAGGCTGGGG	0.602																																																	0																																										SO:0001587	stop_gained	0			AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.537G>A	16.37:g.3440513C>T	ENSP00000380061:p.Trp179*		B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Nonsense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.W179*	ENST00000396852.4	37	c.537		16	.	.	.	.	.	.	.	.	.	.	C	16.38	3.108124	0.56291	.	.	ENSG00000140987	ENST00000396852;ENST00000396846;ENST00000418960	.	.	.	3.61	-1.62	0.08372	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	2.3523	0.04287	0.4193:0.2995:0.0:0.2812	.	.	.	.	X	179;179;178	.	ENSP00000380057:W179X	W	-	3	0	ZNF434	3380514	0.000000	0.05858	0.004000	0.12327	0.009000	0.06853	-0.736000	0.04882	0.074000	0.16767	-0.261000	0.10672	TGG	ZSCAN32	-	NULL	ENSG00000140987		0.602	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	ZSCAN32	HGNC	protein_coding	OTTHUMT00000251509.2	-	0.00	75	0	C	NM_017810		3440513	-1	tier1	-	no_errors	ENST00000396846	ensembl	human	known	74_37	nonsense	7.69	48	4	SNP	0.001	T
