#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADCY3	109	genome.wustl.edu	37	2	25054542	25054543	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr2:25054542_25054543insTA	ENST00000260600.5	-	11	2894_2895	c.2043_2044insTA	c.(2041-2046)gccatcfs	p.I682fs	ADCY3_ENST00000405392.1_Frame_Shift_Ins_p.I315fs|ADCY3_ENST00000450524.1_5'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	682					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CGGGGAAAGATGGCAGCCAGGG	0.505																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2043_2044insTA	2.37:g.25054542_25054543insTA	ENSP00000260600:p.Ile682fs		B3KT86|Q53T54|Q9UDB1	Frame_Shift_Ins	INS	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.I681fs	ENST00000260600.5	37	c.2044_2043	CCDS1715.1	2																																																																																			ADCY3	-	NULL	ENSG00000138031		0.505	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY3	HGNC	protein_coding	OTTHUMT00000211574.2	11	0.00	0	-			25054542	25054543	-1	no_errors	ENST00000260600	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	1.000:1.000	TA
ADD2	119	genome.wustl.edu	37	2	70906010	70906010	+	Silent	SNP	C	C	T	rs556635447		TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr2:70906010C>T	ENST00000264436.4	-	11	1653	c.1209G>A	c.(1207-1209)acG>acA	p.T403T	ADD2_ENST00000430656.1_Silent_p.T419T|ADD2_ENST00000407644.2_Silent_p.T403T|ADD2_ENST00000355733.3_Silent_p.T403T|ADD2_ENST00000413157.2_Silent_p.T403T	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	403					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)	p.T403T(2)|p.T419T(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AGGCTGTGACCGTGGCTGGAA	0.542													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17767	0.0		0.0	False		,,,				2504	0.0					dbGAP											3	Substitution - coding silent(3)	lung(3)											165.0	161.0	162.0					2																	70906010		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1209G>A	2.37:g.70906010C>T			A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Silent	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.T403	ENST00000264436.4	37	c.1209	CCDS1906.1	2																																																																																			ADD2	-	NULL	ENSG00000075340		0.542	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD2	HGNC	protein_coding	OTTHUMT00000251918.4	244	0.00	0	C	NM_001617		70906010	70906010	-1	no_errors	ENST00000264436	ensembl	human	known	69_37n	silent	232	21.02	62	SNP	0.010	T
ALDH9A1	223	genome.wustl.edu	37	1	165652328	165652328	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr1:165652328G>A	ENST00000354775.4	-	3	651	c.347C>T	c.(346-348)gCt>gTt	p.A116V	ALDH9A1_ENST00000538148.1_Missense_Mutation_p.A22V|ALDH9A1_ENST00000461664.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	92			C -> S (in allele ALDH9A1*2). {ECO:0000269|PubMed:8645224, ECO:0000269|PubMed:8786138}.		carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CTCCATAGTAGCAATTTCATC	0.433																																					Ovarian(179;1583 2014 18106 33801 42447)	dbGAP											0													155.0	139.0	145.0					1																	165652328		2203	4300	6503	-	-	-	SO:0001583	missense	0			U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"""Aldehyde dehydrogenases"""	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.347C>T	1.37:g.165652328G>A	ENSP00000346827:p.Ala116Val		B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.A116V	ENST00000354775.4	37	c.347	CCDS1250.2	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167791	0.78339	.	.	ENSG00000143149	ENST00000354775;ENST00000538148	D;D	0.92348	-3.02;-3.02	5.05	5.05	0.67936	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.95348	0.8490	M	0.77486	2.375	0.52099	D	0.999942	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.958;0.999;0.997;0.999	D	0.95938	0.8944	9	0.87932	D	0	.	15.912	0.79479	0.0:0.0:1.0:0.0	.	22;106;92;116	B4DYY1;B4DX14;P49189;B9EKV4	.;.;AL9A1_HUMAN;.	V	116;22	ENSP00000346827:A116V;ENSP00000440026:A22V	ENSP00000346827:A116V	A	-	2	0	ALDH9A1	163918952	1.000000	0.71417	0.947000	0.38551	0.337000	0.28794	9.611000	0.98342	2.320000	0.78422	0.563000	0.77884	GCT	ALDH9A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000143149		0.433	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH9A1	HGNC	protein_coding	OTTHUMT00000083899.1	192	0.00	0	G			165652328	165652328	-1	no_errors	ENST00000354775	ensembl	human	known	69_37n	missense	198	25.19	67	SNP	0.999	A
AGT	183	genome.wustl.edu	37	1	230846340	230846340	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr1:230846340T>A	ENST00000366667.4	-	2	471	c.257A>T	c.(256-258)gAc>gTc	p.D86V	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	86					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CACCAGCTGGTCCTGTAGGGC	0.557																																						dbGAP											0													87.0	88.0	88.0					1																	230846340		2203	4300	6503	-	-	-	SO:0001583	missense	0			K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.257A>T	1.37:g.230846340T>A	ENSP00000355627:p.Asp86Val		Q16358|Q16359|Q96F91	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom,prints_Angiotensngn	p.D86V	ENST00000366667.4	37	c.257	CCDS1585.1	1	.	.	.	.	.	.	.	.	.	.	T	5.298	0.240430	0.10023	.	.	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.81996	-1.56	5.19	2.82	0.32997	Serpin domain (1);	0.571482	0.18821	N	0.130249	T	0.73830	0.3637	L	0.40543	1.245	0.26421	N	0.97609	B;B;B	0.17667	0.023;0.012;0.023	B;B;B	0.13407	0.009;0.009;0.009	T	0.64896	-0.6299	10	0.72032	D	0.01	.	6.8722	0.24127	0.1461:0.0744:0.0:0.7795	.	86;86;86	B0ZBE2;B2R5S1;P01019	.;.;ANGT_HUMAN	V	86	ENSP00000355627:D86V	ENSP00000355627:D86V	D	-	2	0	AGT	228912963	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	1.429000	0.34903	0.353000	0.24079	0.459000	0.35465	GAC	AGT	-	superfamily_Sepin_dom	ENSG00000135744		0.557	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGT	HGNC	protein_coding	OTTHUMT00000092102.1	49	0.00	0	T	NM_000029		230846340	230846340	-1	no_errors	ENST00000366667	ensembl	human	known	69_37n	missense	76	16.30	15	SNP	0.009	A
ALPK2	115701	genome.wustl.edu	37	18	56182234	56182234	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr18:56182234T>C	ENST00000361673.3	-	10	6233	c.6020A>G	c.(6019-6021)gAa>gGa	p.E2007G		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2007	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTCAGGTACTTCTCCAAAGCC	0.478																																						dbGAP											0													143.0	105.0	118.0					18																	56182234		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.6020A>G	18.37:g.56182234T>C	ENSP00000354991:p.Glu2007Gly		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.E2007G	ENST00000361673.3	37	c.6020	CCDS11966.2	18	.	.	.	.	.	.	.	.	.	.	T	27.5	4.837467	0.91117	.	.	ENSG00000198796	ENST00000361673	T	0.14516	2.5	6.02	6.02	0.97574	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.201550	0.38778	N	0.001566	T	0.32071	0.0817	L	0.45581	1.43	0.52099	D	0.999949	P	0.42518	0.782	P	0.61940	0.896	T	0.00761	-1.1577	10	0.72032	D	0.01	-15.8234	16.2061	0.82131	0.0:0.0:0.0:1.0	.	2007	Q86TB3	ALPK2_HUMAN	G	2007	ENSP00000354991:E2007G	ENSP00000354991:E2007G	E	-	2	0	ALPK2	54333214	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.456000	0.80751	2.311000	0.77944	0.533000	0.62120	GAA	ALPK2	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	ENSG00000198796		0.478	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	105	0.00	0	T	NM_052947		56182234	56182234	-1	no_errors	ENST00000361673	ensembl	human	known	69_37n	missense	65	26.67	24	SNP	1.000	C
ALS2CL	259173	genome.wustl.edu	37	3	46716125	46716125	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr3:46716125T>C	ENST00000318962.4	-	21	2443	c.2360A>G	c.(2359-2361)tAc>tGc	p.Y787C	ALS2CL_ENST00000383742.3_Missense_Mutation_p.Y134C|ALS2CL_ENST00000415953.1_Missense_Mutation_p.Y787C	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	787					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GCCCTGGCTGTAGAAGCTGTC	0.567																																						dbGAP											0													158.0	139.0	145.0					3																	46716125		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.2360A>G	3.37:g.46716125T>C	ENSP00000313670:p.Tyr787Cys		Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9	p.Y787C	ENST00000318962.4	37	c.2360	CCDS2743.1	3	.	.	.	.	.	.	.	.	.	.	T	21.3	4.129070	0.77549	.	.	ENSG00000178038	ENST00000318962;ENST00000415953;ENST00000383742	T;T;T	0.29917	1.55;1.55;1.55	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000014	T	0.55625	0.1932	M	0.74881	2.28	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.59710	-0.7403	10	0.87932	D	0	.	13.6954	0.62575	0.0:0.0:0.0:1.0	.	787	Q60I27	AL2CL_HUMAN	C	787;787;134	ENSP00000313670:Y787C;ENSP00000413223:Y787C;ENSP00000373248:Y134C	ENSP00000313670:Y787C	Y	-	2	0	ALS2CL	46691129	1.000000	0.71417	0.995000	0.50966	0.927000	0.56198	6.574000	0.74014	2.333000	0.79357	0.533000	0.62120	TAC	ALS2CL	-	NULL	ENSG00000178038		0.567	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CL	HGNC	protein_coding	OTTHUMT00000250567.3	58	0.00	0	T	NM_147129		46716125	46716125	-1	no_errors	ENST00000318962	ensembl	human	known	69_37n	missense	74	18.48	17	SNP	1.000	C
APLF	200558	genome.wustl.edu	37	2	68740326	68740326	+	Silent	SNP	A	A	T			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr2:68740326A>T	ENST00000303795.4	+	4	627	c.456A>T	c.(454-456)atA>atT	p.I152I		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	152					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						GCACAGAAATAGCCAAGACCC	0.373																																						dbGAP											0													61.0	59.0	60.0					2																	68740326		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.456A>T	2.37:g.68740326A>T			A8K476|Q53P47|Q53PB9|Q53QU0	Silent	SNP	pfam_Znf_C2H2_APLF-like,superfamily_SMAD_FHA_domain	p.I152	ENST00000303795.4	37	c.456	CCDS1888.1	2																																																																																			APLF	-	NULL	ENSG00000169621		0.373	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APLF	HGNC	protein_coding	OTTHUMT00000251759.1	118	0.00	0	A	NM_173545		68740326	68740326	+1	no_errors	ENST00000303795	ensembl	human	known	69_37n	silent	160	18.37	36	SNP	0.002	T
ANKRD36C	400986	genome.wustl.edu	37	2	96521618	96521618	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr2:96521618A>G	ENST00000456556.1	-	63	4475	c.4391T>C	c.(4390-4392)aTg>aCg	p.M1464T	ANKRD36C_ENST00000420871.2_Missense_Mutation_p.M715T|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.M491T			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1464							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GTATGATTGCATTTCTGTTTC	0.448																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.4391T>C	2.37:g.96521618A>G	ENSP00000403302:p.Met1464Thr		C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.M1464T	ENST00000456556.1	37	c.4391		2	.	.	.	.	.	.	.	.	.	.	a	1.608	-0.524834	0.04141	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039	T;T;T	0.14144	2.53;2.53;2.53	1.87	0.654	0.17833	.	.	.	.	.	T	0.15955	0.0384	L	0.48642	1.525	0.09310	N	1	.	.	.	.	.	.	T	0.21690	-1.0238	7	0.56958	D	0.05	.	7.4511	0.27240	0.8568:0.0:0.1432:0.0	.	.	.	.	T	715;1464;491	ENSP00000415231:M715T;ENSP00000403302:M1464T;ENSP00000407838:M491T	ENSP00000407838:M491T	M	-	2	0	AC073995.2	95885345	0.086000	0.21541	0.293000	0.24932	0.013000	0.08279	2.705000	0.47127	-0.198000	0.10333	-1.843000	0.00578	ATG	ANKRD36C	-	NULL	ENSG00000174501		0.448	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	ANKRD36C	HGNC	protein_coding	OTTHUMT00000338799.2	119	0.00	0	A	NM_001010914		96521618	96521618	-1	no_errors	ENST00000456556	ensembl	human	known	69_37n	missense	126	18.18	28	SNP	0.461	G
ASXL2	55252	genome.wustl.edu	37	2	25967090	25967090	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr2:25967090C>A	ENST00000435504.4	-	13	2409	c.2116G>T	c.(2116-2118)Gaa>Taa	p.E706*	ASXL2_ENST00000404843.1_Nonsense_Mutation_p.E446*|ASXL2_ENST00000336112.4_Nonsense_Mutation_p.E678*|ASXL2_ENST00000272341.4_Nonsense_Mutation_p.E446*			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	706	Gly-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCTGCCCTTCACCACCCTCT	0.642																																						dbGAP											0													97.0	97.0	97.0					2																	25967090		1977	4163	6140	-	-	-	SO:0001587	stop_gained	0					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.2116G>T	2.37:g.25967090C>A	ENSP00000391447:p.Glu706*		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Nonsense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.E706*	ENST00000435504.4	37	c.2116		2	.	.	.	.	.	.	.	.	.	.	C	46	12.522351	0.99675	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	.	.	.	5.94	5.04	0.67666	.	0.565017	0.18289	N	0.145768	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-11.9241	15.6551	0.77126	0.0:0.8623:0.1377:0.0	.	.	.	.	X	706;678;446;446	.	ENSP00000272341:E446X	E	-	1	0	ASXL2	25820594	0.038000	0.19896	0.964000	0.40570	0.938000	0.57974	2.297000	0.43593	1.457000	0.47850	0.563000	0.77884	GAA	ASXL2	-	NULL	ENSG00000143970		0.642	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	129	0.00	0	C	NM_018263		25967090	25967090	-1	no_errors	ENST00000435504	ensembl	human	known	69_37n	nonsense	135	21.97	38	SNP	0.843	A
ASB18	401036	genome.wustl.edu	37	2	237150049	237150049	+	Intron	SNP	C	C	T	rs180959953		TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr2:237150049C>T	ENST00000409749.3	-	2	205				AC079135.1_ENST00000415226.1_RNA|ASB18_ENST00000330842.6_Missense_Mutation_p.A39T	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		AGGTCCCCTGCGACCAGGGCA	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		17429	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													70.0	70.0	70.0					2																	237150049		1951	4136	6087	-	-	-	SO:0001627	intron_variant	0			AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"""Ankyrin repeat domain containing"""	19770	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 18"""			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.206-4G>A	2.37:g.237150049C>T			B6ZDL7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.A39T	ENST00000409749.3	37	c.115	CCDS46548.1	2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	2.166	-0.391019	0.04932	.	.	ENSG00000182177	ENST00000330842	T	0.52983	0.64	5.12	-1.08	0.09936	.	2.011390	0.02665	N	0.107892	T	0.33614	0.0869	.	.	.	0.09310	N	1	B	0.15719	0.014	B	0.04013	0.001	T	0.17684	-1.0361	8	.	.	.	.	10.1998	0.43075	0.0:0.4271:0.0:0.5729	.	39	Q6ZVZ8-2	.	T	39	ENSP00000329970:A39T	.	A	-	1	0	ASB18	236814788	0.000000	0.05858	0.014000	0.15608	0.057000	0.15508	-0.438000	0.06905	-0.478000	0.06823	-1.074000	0.02243	GCA	ASB18	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000182177		0.522	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB18	HGNC	protein_coding	OTTHUMT00000329436.1	62	0.00	0	C	NM_212556		237150049	237150049	-1	no_errors	ENST00000330842	ensembl	human	known	69_37n	missense	22	38.89	14	SNP	0.012	T
B4GALT3	8703	genome.wustl.edu	37	1	161144898	161144899	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr1:161144898_161144899insT	ENST00000319769.5	-	4	595_596	c.373_374insA	c.(373-375)acafs	p.T125fs	B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000367998.1_Frame_Shift_Ins_p.T125fs|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	125					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	AATGATGGCTGTTCGGGAGCGG	0.634																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"""Beta 4-glycosyltransferases"""	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.374dupA	1.37:g.161144900_161144900dupT	ENSP00000320965:p.Thr125fs		D3DVG3|O60910|Q9BPZ4|Q9H8T2	Frame_Shift_Ins	INS	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	p.T125fs	ENST00000319769.5	37	c.374_373	CCDS1222.1	1																																																																																			B4GALT3	-	pfam_Galactosyl_T_2_met	ENSG00000158850		0.634	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT3	HGNC	protein_coding	OTTHUMT00000083054.1	47	0.00	0	-	NM_003779		161144898	161144899	-1	no_errors	ENST00000319769	ensembl	human	known	69_37n	frame_shift_ins	63	14.86	11	INS	1.000:0.995	T
BEST1	7439	genome.wustl.edu	37	11	61729922	61729922	+	Silent	SNP	C	C	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr11:61729922C>A	ENST00000378043.4	+	10	1939	c.1296C>A	c.(1294-1296)gcC>gcA	p.A432A	FTH1_ENST00000529191.1_Intron|BEST1_ENST00000378042.3_Silent_p.A345A|BEST1_ENST00000301774.9_Silent_p.A60A|BEST1_ENST00000534553.1_3'UTR|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000435278.2_3'UTR|BEST1_ENST00000449131.2_Silent_p.A372A	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	432					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						ACAAGGCAGCCAAACAGAACG	0.552																																						dbGAP											0													92.0	90.0	91.0					11																	61729922		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1296C>A	11.37:g.61729922C>A			A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Silent	SNP	pfam_Bestrophin/UPF0187	p.A372	ENST00000378043.4	37	c.1116	CCDS31580.1	11																																																																																			BEST1	-	NULL	ENSG00000167995		0.552	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST1	HGNC	protein_coding	OTTHUMT00000394715.1	46	0.00	0	C	NM_004183		61729922	61729922	+1	no_errors	ENST00000449131	ensembl	human	known	69_37n	silent	71	14.29	12	SNP	0.002	A
C12orf71	728858	genome.wustl.edu	37	12	27234161	27234161	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr12:27234161G>C	ENST00000429849.2	-	2	786	c.756C>G	c.(754-756)caC>caG	p.H252Q		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	252										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						TCTTGCCTCTGTGAAAGAGTC	0.438																																						dbGAP											0													67.0	67.0	67.0					12																	27234161		1969	4162	6131	-	-	-	SO:0001583	missense	0				CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.756C>G	12.37:g.27234161G>C	ENSP00000413728:p.His252Gln			Missense_Mutation	SNP	NULL	p.H252Q	ENST00000429849.2	37	c.756	CCDS44851.1	12	.	.	.	.	.	.	.	.	.	.	G	2.092	-0.408041	0.04832	.	.	ENSG00000214700	ENST00000398815;ENST00000429849	T	0.41400	1.0	2.66	-2.86	0.05717	.	1.398210	0.05537	U	0.564949	T	0.24160	0.0585	N	0.14661	0.345	0.09310	N	1	B	0.32010	0.351	B	0.36567	0.228	T	0.17349	-1.0372	10	0.28530	T	0.3	-0.0018	3.3818	0.07257	0.4247:0.0:0.3922:0.1831	.	252	A8MTZ7	CL071_HUMAN	Q	284;252	ENSP00000413728:H252Q	ENSP00000381796:H284Q	H	-	3	2	C12orf71	27125428	0.000000	0.05858	0.006000	0.13384	0.015000	0.08874	-0.627000	0.05521	-0.718000	0.04949	-0.723000	0.03601	CAC	C12orf71	-	NULL	ENSG00000214700		0.438	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf71	HGNC	protein_coding	OTTHUMT00000403258.1	335	0.30	1	G	NM_001080406		27234161	27234161	-1	no_errors	ENST00000429849	ensembl	human	known	69_37n	missense	348	18.46	79	SNP	0.008	C
HYPK	25764	genome.wustl.edu	37	15	44093968	44093968	+	Silent	SNP	C	C	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr15:44093968C>A	ENST00000406925.1	+	5	4465	c.354C>A	c.(352-354)ggC>ggA	p.G118G	SERINC4_ENST00000299969.6_5'Flank|HYPK_ENST00000442995.2_Silent_p.G118G|SERF2_ENST00000594896.1_Silent_p.G164G|HYPK_ENST00000458412.1_3'UTR|SERF2_ENST00000600633.1_Silent_p.G118G|SERINC4_ENST00000319327.6_5'Flank|SERINC4_ENST00000249714.3_5'Flank|RP11-296A16.1_ENST00000417761.2_5'Flank			Q9NX55	HYPK_HUMAN	huntingtin interacting protein K	118						cytoplasm (GO:0005737)|nucleus (GO:0005634)							all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;8.1e-07)		AACACATGGGCAACGTGGTAG	0.408																																						dbGAP											0													96.0	89.0	91.0					15																	44093968		2198	4298	6496	-	-	-	SO:0001819	synonymous_variant	0			AF049613	CCDS10104.1	15q14	2012-10-08	2012-10-08	2012-10-08	ENSG00000242028	ENSG00000242028			18418	protein-coding gene	gene with protein product	"""Huntingtin yeast partner K"""	612784	"""chromosome 15 open reading frame 63"""	C15orf63		9700202, 20154145	Standard	NM_016400		Approved	HSPC136, FLJ20431	uc001ztf.3	Q9NX55	OTTHUMG00000060146	ENST00000406925.1:c.354C>A	15.37:g.44093968C>A			C9JKJ0|O75408|Q8WUW8|Q9P024	Silent	SNP	NULL	p.G118	ENST00000406925.1	37	c.354	CCDS10104.1	15																																																																																			C15orf63	-	NULL	ENSG00000242028		0.408	HYPK-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	C15orf63	HGNC	protein_coding	OTTHUMT00000133876.3	110	0.00	0	C	NM_016400		44093968	44093968	+1	no_errors	ENST00000406925	ensembl	human	known	69_37n	silent	192	21.31	52	SNP	1.000	A
CARD6	84674	genome.wustl.edu	37	5	40854020	40854020	+	Silent	SNP	A	A	T			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr5:40854020A>T	ENST00000254691.5	+	3	2785	c.2586A>T	c.(2584-2586)gcA>gcT	p.A862A	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	862					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CAGCAAGAGCAGTAGGGAAGC	0.498																																						dbGAP											0													144.0	141.0	142.0					5																	40854020		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2586A>T	5.37:g.40854020A>T			Q52LR2	Silent	SNP	pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD	p.A862	ENST00000254691.5	37	c.2586	CCDS3935.1	5																																																																																			CARD6	-	NULL	ENSG00000132357		0.498	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD6	HGNC	protein_coding	OTTHUMT00000211584.3	667	0.00	0	A			40854020	40854020	+1	no_errors	ENST00000254691	ensembl	human	known	69_37n	silent	961	24.73	316	SNP	0.000	T
CCDC146	57639	genome.wustl.edu	37	7	76866317	76866317	+	Missense_Mutation	SNP	G	G	C	rs149955577		TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr7:76866317G>C	ENST00000285871.4	+	3	337	c.210G>C	c.(208-210)aaG>aaC	p.K70N	CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	70										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TAAAAGCCAAGTATACCTTGC	0.403																																						dbGAP											0													199.0	148.0	165.0					7																	76866317		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.210G>C	7.37:g.76866317G>C	ENSP00000285871:p.Lys70Asn		A8K8X6|Q9P223	Missense_Mutation	SNP	NULL	p.K70N	ENST00000285871.4	37	c.210	CCDS34671.1	7	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873922	0.72180	.	.	ENSG00000135205	ENST00000415750;ENST00000285871	T;T	0.27256	2.19;1.68	5.55	4.66	0.58398	.	0.221115	0.45126	D	0.000381	T	0.48390	0.1497	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.87578	0.939;0.998	T	0.41627	-0.9498	10	0.51188	T	0.08	-23.8611	11.29	0.49245	0.1404:0.0:0.8596:0.0	.	70;70	Q8IYE0;C9JRR4	CC146_HUMAN;.	N	70	ENSP00000388649:K70N;ENSP00000285871:K70N	ENSP00000285871:K70N	K	+	3	2	AC007000.1	76704253	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.284000	0.43478	2.773000	0.95371	0.585000	0.79938	AAG	CCDC146	-	NULL	ENSG00000135205		0.403	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC146	HGNC	protein_coding	OTTHUMT00000341449.1	178	0.00	0	G	NM_020879		76866317	76866317	+1	no_errors	ENST00000285871	ensembl	human	known	69_37n	missense	208	11.06	26	SNP	1.000	C
CDC20B	166979	genome.wustl.edu	37	5	54442678	54442678	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr5:54442678C>G	ENST00000381375.2	-	3	278	c.133G>C	c.(133-135)Gat>Cat	p.D45H	CDC20B_ENST00000331730.3_Missense_Mutation_p.D24H|CDC20B_ENST00000296733.1_Missense_Mutation_p.D45H|CDC20B_ENST00000334206.5_Missense_Mutation_p.D45H|CDC20B_ENST00000322374.6_Missense_Mutation_p.D45H			Q86Y33	CD20B_HUMAN	cell division cycle 20B	45										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TTAACTGAATCGAGTACCTGT	0.423											OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													62.0	59.0	60.0					5																	54442678		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.133G>C	5.37:g.54442678C>G	ENSP00000370781:p.Asp45His	1000	B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D45H	ENST00000381375.2	37	c.133	CCDS54852.1	5	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257475	0.39896	.	.	ENSG00000164287	ENST00000334206;ENST00000296733;ENST00000381375;ENST00000322374;ENST00000331730	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.94	4.63	1.87	0.25490	.	0.639223	0.13859	N	0.357809	T	0.43722	0.1260	L	0.60455	1.87	0.09310	N	1	D;D;D;D	0.71674	0.994;0.998;0.996;0.996	D;P;P;D	0.65233	0.929;0.903;0.802;0.933	T	0.14980	-1.0453	10	0.66056	D	0.02	-5.343	5.8504	0.18689	0.0:0.6748:0.0:0.3252	.	45;45;45;45	Q86Y33-4;Q86Y33-3;Q86Y33;Q86Y33-2	.;.;CD20B_HUMAN;.	H	45;45;45;45;24	ENSP00000335664:D45H;ENSP00000296733:D45H;ENSP00000370781:D45H;ENSP00000315720:D45H;ENSP00000330566:D24H	ENSP00000296733:D45H	D	-	1	0	CDC20B	54478435	0.001000	0.12720	0.002000	0.10522	0.044000	0.14063	0.770000	0.26618	0.680000	0.31366	0.650000	0.86243	GAT	CDC20B	-	NULL	ENSG00000164287		0.423	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CDC20B	HGNC	protein_coding	OTTHUMT00000369715.1	45	0.00	0	C	NM_152623		54442678	54442678	-1	no_errors	ENST00000296733	ensembl	human	known	69_37n	missense	39	70.15	94	SNP	0.001	G
CDH20	28316	genome.wustl.edu	37	18	59195238	59195238	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr18:59195238G>T	ENST00000262717.4	+	7	1454	c.1056G>T	c.(1054-1056)aaG>aaT	p.K352N	CDH20_ENST00000536675.2_Missense_Mutation_p.K352N|CDH20_ENST00000538374.1_Missense_Mutation_p.K352N			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	352	Cadherin 3. {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)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACACCTTAAAGGTGGAGGGAG	0.458																																						dbGAP											0													85.0	79.0	81.0					18																	59195238		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1056G>T	18.37:g.59195238G>T	ENSP00000262717:p.Lys352Asn		Q495S3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K352N	ENST00000262717.4	37	c.1056	CCDS11977.1	18	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385651	0.61956	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.50277	0.75;0.75;0.75	5.88	2.64	0.31445	Cadherin (5);Cadherin-like (1);	0.092812	0.64402	D	0.000001	T	0.42877	0.1222	N	0.21583	0.68	0.49582	D	0.999806	D	0.56035	0.974	P	0.55615	0.78	T	0.22906	-1.0203	10	0.44086	T	0.13	.	7.9926	0.30250	0.6245:0.0:0.3755:0.0	.	352	Q9HBT6	CAD20_HUMAN	N	352	ENSP00000444767:K352N;ENSP00000442226:K352N;ENSP00000262717:K352N	ENSP00000262717:K352N	K	+	3	2	CDH20	57346218	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.123000	0.31308	0.638000	0.30545	0.650000	0.86243	AAG	CDH20	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000101542		0.458	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH20	HGNC	protein_coding	OTTHUMT00000256141.2	289	0.00	0	G	NM_031891		59195238	59195238	+1	no_errors	ENST00000262717	ensembl	human	known	69_37n	missense	192	26.05	68	SNP	1.000	T
CEP152	22995	genome.wustl.edu	37	15	49054845	49054845	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr15:49054845G>C	ENST00000380950.2	-	18	2492	c.2305C>G	c.(2305-2307)Ctt>Gtt	p.L769V	CEP152_ENST00000399334.3_Missense_Mutation_p.L769V|CEP152_ENST00000325747.5_Missense_Mutation_p.L676V	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	769					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCCTTTTCAAGCTGTTGAATG	0.353																																						dbGAP											0													74.0	69.0	70.0					15																	49054845		1820	4080	5900	-	-	-	SO:0001583	missense	0			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2305C>G	15.37:g.49054845G>C	ENSP00000370337:p.Leu769Val		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.L769V	ENST00000380950.2	37	c.2305	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	G	9.481	1.098066	0.20552	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.55234	0.53;0.54;0.56	4.93	1.98	0.26296	.	0.532223	0.18872	N	0.128819	T	0.34048	0.0884	L	0.45137	1.4	0.27512	N	0.951676	B;B;B	0.30937	0.053;0.301;0.126	B;B;B	0.27715	0.023;0.082;0.027	T	0.10520	-1.0626	10	0.26408	T	0.33	-1.8481	1.3162	0.02107	0.1682:0.1448:0.3882:0.2988	.	676;769;769	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	V	769;676;769	ENSP00000370337:L769V;ENSP00000321000:L676V;ENSP00000382271:L769V	ENSP00000321000:L676V	L	-	1	0	CEP152	46842137	0.460000	0.25776	1.000000	0.80357	0.998000	0.95712	-0.053000	0.11846	0.752000	0.32923	0.655000	0.94253	CTT	CEP152	-	NULL	ENSG00000103995		0.353	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	188	0.00	0	G	NM_014985		49054845	49054845	-1	no_errors	ENST00000380950	ensembl	human	known	69_37n	missense	168	21.30	46	SNP	0.998	C
CFH	3075	genome.wustl.edu	37	1	196643085	196643085	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr1:196643085A>T	ENST00000359637.2	+	3	405	c.343A>T	c.(343-345)Aat>Tat	p.N115Y	CFH_ENST00000367429.4_Missense_Mutation_p.N115Y|CFH_ENST00000439155.2_Missense_Mutation_p.N115Y			P08603	CFAH_HUMAN	complement factor H	179	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GTATACATGTAATGAGGGGTA	0.328																																						dbGAP											0													129.0	136.0	134.0					1																	196643085		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.343A>T	1.37:g.196643085A>T	ENSP00000352658:p.Asn115Tyr		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.N115Y	ENST00000359637.2	37	c.343		1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.211266	0.58343	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.65916	-0.18;-0.18;-0.18	5.47	-3.65	0.04502	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.65312	0.2679	M	0.85630	2.765	0.22266	N	0.999241	B;D;P;P	0.56035	0.193;0.974;0.615;0.839	B;P;B;P	0.50590	0.331;0.579;0.331;0.645	T	0.58945	-0.7546	9	0.87932	D	0	.	2.149	0.03795	0.4222:0.1202:0.3352:0.1224	.	115;115;115;115	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	Y	115	ENSP00000356399:N115Y;ENSP00000402656:N115Y;ENSP00000352658:N115Y	ENSP00000352658:N115Y	N	+	1	0	CFH	194909708	0.001000	0.12720	0.358000	0.25811	0.887000	0.51463	-2.815000	0.00752	-0.680000	0.05211	-0.908000	0.02827	AAT	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000000971		0.328	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000087502.1	209	0.00	0	A	NM_000186		196643085	196643085	+1	no_errors	ENST00000367429	ensembl	human	known	69_37n	missense	227	14.02	37	SNP	0.579	T
CGNL1	84952	genome.wustl.edu	37	15	57730935	57730935	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr15:57730935delA	ENST00000281282.5	+	2	816	c.738delA	c.(736-738)ggafs	p.G246fs		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	246	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGAGGGTGGGAGAGGAGGCCC	0.562																																						dbGAP											0													75.0	81.0	79.0					15																	57730935		2192	4292	6484	-	-	-	SO:0001589	frameshift_variant	0			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.738delA	15.37:g.57730935delA	ENSP00000281282:p.Gly246fs		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Frame_Shift_Del	DEL	pfam_Myosin_tail,prints_Tropomyosin	p.E247fs	ENST00000281282.5	37	c.738	CCDS10161.1	15																																																																																			CGNL1	-	NULL	ENSG00000128849		0.562	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGNL1	HGNC	protein_coding	OTTHUMT00000255482.2	243	0.00	0	A	NM_032866		57730935	57730935	+1	no_errors	ENST00000281282	ensembl	human	known	69_37n	frame_shift_del	202	14.29	34	DEL	0.000	-
CNTNAP3	79937	genome.wustl.edu	37	9	39100104	39100104	+	Silent	SNP	C	C	T			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr9:39100104C>T	ENST00000297668.6	-	18	2872	c.2799G>A	c.(2797-2799)cgG>cgA	p.R933R	CNTNAP3_ENST00000377656.2_Intron|CNTNAP3_ENST00000358144.2_Silent_p.R845R	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	933	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACTGCAGAGACCGAATGCATC	0.517																																						dbGAP											0													4.0	5.0	5.0					9																	39100104		1728	3633	5361	-	-	-	SO:0001819	synonymous_variant	0			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2799G>A	9.37:g.39100104C>T			B1AMA0|Q9C0E9	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.R933	ENST00000297668.6	37	c.2799	CCDS6616.1	9																																																																																			CNTNAP3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000106714		0.517	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1	90	0.00	0	C	NM_033655		39100104	39100104	-1	no_errors	ENST00000297668	ensembl	human	known	69_37n	silent	93	19.13	22	SNP	0.246	T
COG1	9382	genome.wustl.edu	37	17	71201755	71201755	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr17:71201755C>A	ENST00000299886.4	+	10	2526	c.2446C>A	c.(2446-2448)Ctc>Atc	p.L816I		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	816					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTGCGTTACCTCAACATTGT	0.542																																						dbGAP											0													141.0	138.0	139.0					17																	71201755		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.2446C>A	17.37:g.71201755C>A	ENSP00000299886:p.Leu816Ile		Q9NPV9|Q9P2G6	Missense_Mutation	SNP	pfam_Vps51	p.L816I	ENST00000299886.4	37	c.2446	CCDS11692.1	17	.	.	.	.	.	.	.	.	.	.	C	14.50	2.552986	0.45487	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.27720	1.65;1.67	5.48	5.48	0.80851	.	0.063358	0.64402	D	0.000004	T	0.25382	0.0617	L	0.44542	1.39	0.58432	D	0.999999	P;P;P	0.41188	0.741;0.741;0.741	B;B;B	0.37267	0.245;0.245;0.245	T	0.02115	-1.1211	10	0.22706	T	0.39	-14.7856	13.6468	0.62286	0.1545:0.8455:0.0:0.0	.	816;816;816	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	I	816	ENSP00000400111:L816I;ENSP00000299886:L816I	ENSP00000299886:L816I	L	+	1	0	COG1	68713350	1.000000	0.71417	0.937000	0.37676	0.976000	0.68499	4.073000	0.57570	2.749000	0.94314	0.655000	0.94253	CTC	COG1	-	NULL	ENSG00000166685		0.542	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG1	HGNC	protein_coding	OTTHUMT00000441638.1	77	0.00	0	C			71201755	71201755	+1	no_errors	ENST00000299886	ensembl	human	known	69_37n	missense	224	10.40	26	SNP	1.000	A
CPS1	1373	genome.wustl.edu	37	2	211525277	211525277	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr2:211525277C>A	ENST00000233072.5	+	32	4021	c.3825C>A	c.(3823-3825)ttC>ttA	p.F1275L	CPS1_ENST00000451903.2_Missense_Mutation_p.F824L|CPS1_ENST00000430249.2_Missense_Mutation_p.F1281L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1275	ATP-grasp 2.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.F1275F(1)|p.F1281F(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GGGTTGACTTCATTGATGTGG	0.413																																						dbGAP											2	Substitution - coding silent(2)	lung(2)											243.0	221.0	228.0					2																	211525277		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3825C>A	2.37:g.211525277C>A	ENSP00000233072:p.Phe1275Leu		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE_1,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,smart_MGS-like_dom,prints_CbamoylP_synth_lsu_CPSase_dom,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	p.F1281L	ENST00000233072.5	37	c.3843	CCDS2393.1	2	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157665	0.38119	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	T;T;T	0.73047	-0.71;-0.71;-0.71	5.98	4.2	0.49525	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	T	0.52581	0.1743	N	0.12637	0.245	0.48236	D	0.999619	B;B	0.22480	0.07;0.07	B;B	0.27796	0.083;0.083	T	0.41197	-0.9522	10	0.23302	T	0.38	-9.7427	12.4907	0.55899	0.0:0.8658:0.0:0.1342	.	1285;1275	Q59HF8;P31327	.;CPSM_HUMAN	L	1281;1283;1275;824	ENSP00000402608:F1281L;ENSP00000233072:F1275L;ENSP00000406136:F824L	ENSP00000233072:F1275L	F	+	3	2	CPS1	211233522	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.415000	0.34748	0.875000	0.35847	0.655000	0.94253	TTC	CPS1	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu	ENSG00000021826		0.413	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	652	0.15	1	C			211525277	211525277	+1	no_errors	ENST00000430249	ensembl	human	known	69_37n	missense	475	20.92	127	SNP	1.000	A
DISC1	27185	genome.wustl.edu	37	1	232144788	232144788	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr1:232144788A>C	ENST00000439617.2	+	11	2353	c.2300A>C	c.(2299-2301)cAg>cCg	p.Q767P	DISC1_ENST00000537876.1_3'UTR|DISC1_ENST00000366637.3_Intron|DISC1_ENST00000535983.1_3'UTR	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	767	Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGAGGTGAACAGAAAGAGGTC	0.502																																						dbGAP											0													69.0	64.0	66.0					1																	232144788		1877	4117	5994	-	-	-	SO:0001583	missense	0			AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000439617.2:c.2300A>C	1.37:g.232144788A>C	ENSP00000403888:p.Gln767Pro		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	superfamily_Prefoldin	p.Q767P	ENST00000439617.2	37	c.2300		1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843276	0.32606	.	.	ENSG00000162946	ENST00000439617;ENST00000366638;ENST00000532576	T	0.09163	3.01	4.72	1.93	0.25924	.	.	.	.	.	T	0.07007	0.0178	N	0.08118	0	0.34383	D	0.693362	P;D;D;D;D	0.60160	0.924;0.987;0.987;0.965;0.987	P;P;P;P;P	0.52217	0.563;0.693;0.693;0.563;0.693	T	0.43669	-0.9377	9	0.31617	T	0.26	-0.0162	2.3916	0.04379	0.6:0.0:0.1777:0.2223	.	799;645;767;645;767	C4P096;C4P094;C4P098;F5H1F1;Q9NRI5	.;.;.;.;DISC1_HUMAN	P	767;799;645	ENSP00000403888:Q767P	ENSP00000355598:Q799P	Q	+	2	0	DISC1	230211411	0.945000	0.32115	0.033000	0.17914	0.436000	0.31835	1.317000	0.33631	0.166000	0.19597	0.528000	0.53228	CAG	DISC1	-	NULL	ENSG00000162946		0.502	DISC1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	DISC1	HGNC	protein_coding	OTTHUMT00000092351.2	167	0.00	0	A	NM_018662		232144788	232144788	+1	no_errors	ENST00000439617	ensembl	human	known	69_37n	missense	195	31.10	88	SNP	0.654	C
DNAJC14	85406	genome.wustl.edu	37	12	56221251	56221251	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr12:56221251A>G	ENST00000357606.3	-	3	1481	c.1192T>C	c.(1192-1194)Tgg>Cgg	p.W398R	TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317269.3_Missense_Mutation_p.W398R|DNAJC14_ENST00000317287.5_Missense_Mutation_p.W398R|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.L27P			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	398					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AACTCCAGCCAGCCCCACTGA	0.552																																						dbGAP											0													91.0	91.0	91.0					12																	56221251		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.1192T>C	12.37:g.56221251A>G	ENSP00000350223:p.Trp398Arg		A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.W398R	ENST00000357606.3	37	c.1192	CCDS8894.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.55|13.55	2.271603|2.271603	0.40194|0.40194	.|.	.|.	ENSG00000257390|ENSG00000135392	ENST00000546837|ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287	.|T;T;T	.|0.30182	.|1.54;1.54;1.54	5.47|5.47	4.25|4.25	0.50352|0.50352	.|.	.|0.109274	.|0.41396	.|D	.|0.000892	T|T	0.19886|0.19886	0.0478|0.0478	L|L	0.27053|0.27053	0.805|0.805	0.31504|0.31504	N|N	0.664448|0.664448	.|D;B	.|0.54601	.|0.967;0.158	.|B;B	.|0.44044	.|0.439;0.019	T|T	0.03231|0.03231	-1.1058|-1.1058	5|10	.|0.08837	.|T	.|0.75	-9.9058|-9.9058	10.6121|10.6121	0.45427|0.45427	0.8391:0.1609:0.0:0.0|0.8391:0.1609:0.0:0.0	.|.	.|398;398	.|Q6Y2X3;A8K5A7	.|DJC14_HUMAN;.	P|R	27|398;398;108;398	.|ENSP00000350223:W398R;ENSP00000316240:W398R;ENSP00000317500:W398R	.|ENSP00000316240:W398R	L|W	-|-	2|1	0|0	RP11-762I7.5|DNAJC14	54507518|54507518	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	2.396000|2.396000	0.44468|0.44468	2.209000|2.209000	0.71365|0.71365	0.533000|0.533000	0.62120|0.62120	CTG|TGG	DNAJC14	-	NULL	ENSG00000135392		0.552	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJC14	HGNC	protein_coding	OTTHUMT00000409095.1	167	0.00	0	A	NM_032364		56221251	56221251	-1	no_errors	ENST00000317269	ensembl	human	known	69_37n	missense	368	13.58	58	SNP	1.000	G
DRD2	1813	genome.wustl.edu	37	11	113295308	113295308	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr11:113295308G>T	ENST00000362072.3	-	2	410	c.66C>A	c.(64-66)ttC>ttA	p.F22L	DRD2_ENST00000535984.1_5'Flank|DRD2_ENST00000542968.1_Missense_Mutation_p.F22L|DRD2_ENST00000355319.2_Missense_Mutation_p.F22L|DRD2_ENST00000538967.1_Missense_Mutation_p.F22L|DRD2_ENST00000544518.1_Missense_Mutation_p.F22L|DRD2_ENST00000346454.3_Missense_Mutation_p.F22L	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	22					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTGACCCGTTGAAGGGCCGGC	0.592																																						dbGAP											0													171.0	141.0	151.0					11																	113295308		2201	4296	6497	-	-	-	SO:0001583	missense	0			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.66C>A	11.37:g.113295308G>T	ENSP00000354859:p.Phe22Leu		Q9NZR3|Q9UPA9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Dopa_D2_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.F22L	ENST00000362072.3	37	c.66	CCDS8361.1	11	.	.	.	.	.	.	.	.	.	.	G	13.85	2.358697	0.41801	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967;ENST00000543292	T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.73	2.57	0.30868	.	0.554806	0.21358	N	0.075848	T	0.22044	0.0531	N	0.14661	0.345	0.35987	D	0.836429	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.23511	-1.0186	10	0.02654	T	1	.	13.4347	0.61077	0.065:0.3004:0.6346:0.0	.	22;22;22;22	F8VUV1;P14416-3;P14416-2;P14416	.;.;.;DRD2_HUMAN	L	22	ENSP00000347474:F22L;ENSP00000278597:F22L;ENSP00000354859:F22L;ENSP00000441068:F22L;ENSP00000442172:F22L;ENSP00000438215:F22L;ENSP00000438419:F22L	ENSP00000278597:F22L	F	-	3	2	DRD2	112800518	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	5.065000	0.64344	0.745000	0.32763	0.561000	0.74099	TTC	DRD2	-	NULL	ENSG00000149295		0.592	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRD2	HGNC	protein_coding	OTTHUMT00000395834.1	49	0.00	0	G	NM_000795		113295308	113295308	-1	no_errors	ENST00000355319	ensembl	human	known	69_37n	missense	24	31.43	11	SNP	1.000	T
ELN	2006	genome.wustl.edu	37	7	73457331	73457331	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr7:73457331G>A	ENST00000252034.7	+	7	742	c.343G>A	c.(343-345)Gtc>Atc	p.V115I	ELN_ENST00000458204.1_Missense_Mutation_p.V105I|ELN_ENST00000357036.5_Missense_Mutation_p.V115I|ELN_ENST00000380584.4_Missense_Mutation_p.V115I|ELN_ENST00000429192.1_Missense_Mutation_p.V115I|ELN_ENST00000320399.6_Missense_Mutation_p.V115I|ELN_ENST00000414324.1_Missense_Mutation_p.V105I|ELN_ENST00000445912.1_Missense_Mutation_p.V115I|ELN_ENST00000358929.4_Missense_Mutation_p.V115I|ELN_ENST00000380553.4_Intron|ELN_ENST00000380575.4_Missense_Mutation_p.V105I|ELN_ENST00000320492.7_Missense_Mutation_p.V103I|ELN_ENST00000380562.4_Missense_Mutation_p.V115I|ELN_ENST00000380576.5_Missense_Mutation_p.V115I	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	115					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				GCTTGGTGGTGTCCCAGGAGT	0.627			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															dbGAP		Dom	yes		7	7q11.23	2006	elastin	yes	L	0													138.0	125.0	130.0					7																	73457331		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.343G>A	7.37:g.73457331G>A	ENSP00000252034:p.Val115Ile		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	prints_Tropoelastin	p.V115I	ENST00000252034.7	37	c.343	CCDS5562.2	7	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297361	0.40694	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000431562;ENST00000320492;ENST00000438906;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000417091;ENST00000429192;ENST00000442462;ENST00000442310;ENST00000380576;ENST00000320399	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	4.67	-2.72	0.05968	.	.	.	.	.	T	0.59169	0.2174	N	0.05124	-0.11	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B	0.09022	0.002;0.002;0.002;0.002;0.002;0.002;0.002;0.002;0.002;0.002;0.002;0.002;0.002	B;B;B;B;B;B;B;B;B;B;B;B;B	0.09377	0.003;0.004;0.002;0.003;0.003;0.003;0.003;0.003;0.003;0.003;0.002;0.003;0.003	T	0.40289	-0.9571	9	0.21540	T	0.41	.	5.1203	0.14856	0.3522:0.2993:0.3485:0.0	.	115;84;103;105;105;115;105;115;115;115;105;115;115	E7ENM0;E9PBM4;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	I	115;115;115;93;103;103;105;115;105;115;105;115;115;115;84;115;115;115	ENSP00000389857:V115I;ENSP00000252034:V115I;ENSP00000351807:V115I;ENSP00000394549:V93I;ENSP00000315607:V103I;ENSP00000406949:V103I;ENSP00000392575:V105I;ENSP00000369936:V115I;ENSP00000369949:V105I;ENSP00000369958:V115I;ENSP00000403162:V105I;ENSP00000349540:V115I;ENSP00000411092:V115I;ENSP00000391129:V115I;ENSP00000403961:V115I;ENSP00000369950:V115I;ENSP00000313565:V115I	ENSP00000252034:V115I	V	+	1	0	ELN	73095267	0.004000	0.15560	0.000000	0.03702	0.410000	0.31052	0.638000	0.24674	-1.130000	0.02914	0.313000	0.20887	GTC	ELN	-	NULL	ENSG00000049540		0.627	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	HGNC	protein_coding	OTTHUMT00000316913.1	18	0.00	0	G	NM_000501		73457331	73457331	+1	no_errors	ENST00000358929	ensembl	human	known	69_37n	missense	38	19.15	9	SNP	0.000	A
EMR3	84658	genome.wustl.edu	37	19	14749046	14749046	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr19:14749046G>A	ENST00000253673.5	-	11	1455	c.1355C>T	c.(1354-1356)aCa>aTa	p.T452I	EMR3_ENST00000599900.1_Missense_Mutation_p.T237I|EMR3_ENST00000344373.4_Missense_Mutation_p.T400I|EMR3_ENST00000443157.2_Missense_Mutation_p.T326I	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	452					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GTTGACCACTGTCAGGTTCCG	0.557																																						dbGAP											0													169.0	128.0	142.0					19																	14749046		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1355C>T	19.37:g.14749046G>A	ENSP00000253673:p.Thr452Ile			Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97	p.T452I	ENST00000253673.5	37	c.1355	CCDS12315.1	19	.	.	.	.	.	.	.	.	.	.	G	11.56	1.673734	0.29693	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.36699	1.24;1.24;1.24	4.34	-0.302	0.12796	GPCR, family 2-like (1);	.	.	.	.	T	0.42314	0.1197	L	0.45352	1.415	0.21675	N	0.999592	D;D;P	0.67145	0.996;0.982;0.873	D;P;P	0.70227	0.968;0.835;0.733	T	0.22800	-1.0206	9	0.52906	T	0.07	.	2.7535	0.05287	0.3144:0.0:0.3677:0.318	.	326;400;452	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	I	326;452;400	ENSP00000396208:T326I;ENSP00000253673:T452I;ENSP00000340758:T400I	ENSP00000253673:T452I	T	-	2	0	EMR3	14610046	0.000000	0.05858	0.667000	0.29798	0.016000	0.09150	-0.567000	0.05916	0.477000	0.27464	0.650000	0.86243	ACA	EMR3	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt	ENSG00000131355		0.557	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR3	HGNC	protein_coding	OTTHUMT00000466488.1	152	0.00	0	G	NM_032571		14749046	14749046	-1	no_errors	ENST00000253673	ensembl	human	known	69_37n	missense	127	10.56	15	SNP	0.295	A
ERCC6	2074	genome.wustl.edu	37	10	50679156	50679156	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr10:50679156T>C	ENST00000355832.5	-	17	3013	c.2935A>G	c.(2935-2937)Aag>Gag	p.K979E	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.K349E|ERCC6_ENST00000465653.1_5'Flank	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	979	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAAAACTGCTTGAAGATTTGT	0.318								Direct reversal of damage;Nucleotide excision repair (NER)																														dbGAP											0													128.0	140.0	136.0					10																	50679156		2202	4300	6502	-	-	-	SO:0001583	missense	0			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2935A>G	10.37:g.50679156T>C	ENSP00000348089:p.Lys979Glu		D3DX94|Q5W0L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K979E	ENST00000355832.5	37	c.2935	CCDS7229.1	10	.	.	.	.	.	.	.	.	.	.	T	30	5.055424	0.93793	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;D	0.83673	-1.75;-1.75	5.8	5.8	0.92144	Helicase, C-terminal (1);	.	.	.	.	D	0.94499	0.8229	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.96355	0.9261	9	0.87932	D	0	-29.8861	16.1549	0.81657	0.0:0.0:0.0:1.0	.	979;356	Q03468;Q59FF6	ERCC6_HUMAN;.	E	979;356;349	ENSP00000348089:K979E;ENSP00000445134:K349E	ENSP00000348089:K979E	K	-	1	0	ERCC6	50349162	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.209000	0.71365	0.533000	0.62120	AAG	ERCC6	-	pfscan_Helicase_C	ENSG00000225830		0.318	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	566	0.00	0	T	NM_000124		50679156	50679156	-1	no_errors	ENST00000355832	ensembl	human	known	69_37n	missense	378	21.90	106	SNP	1.000	C
FAM114A2	10827	genome.wustl.edu	37	5	153413878	153413878	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr5:153413878C>A	ENST00000351797.4	-	3	346	c.270G>T	c.(268-270)aaG>aaT	p.K90N	FAM114A2_ENST00000520667.1_Missense_Mutation_p.K90N|FAM114A2_ENST00000520313.1_Intron|FAM114A2_ENST00000522858.1_Missense_Mutation_p.K90N	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	90							purine nucleotide binding (GO:0017076)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						AGAGTATGGACTTGCCCCAGC	0.408																																						dbGAP											0													105.0	100.0	102.0					5																	153413878		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 3"""	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.270G>T	5.37:g.153413878C>A	ENSP00000341597:p.Lys90Asn		B2R8D8|Q9H7E0	Missense_Mutation	SNP	pfam_DUF719	p.K90N	ENST00000351797.4	37	c.270	CCDS4323.1	5	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258728	0.59321	.	.	ENSG00000055147	ENST00000351797;ENST00000522858;ENST00000520667;ENST00000433795;ENST00000522395;ENST00000523705;ENST00000519808;ENST00000518102	T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.8	3.09	0.35607	.	0.000000	0.85682	D	0.000000	T	0.64249	0.2581	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61013	-0.7148	10	0.46703	T	0.11	-12.6778	7.718	0.28715	0.0:0.5627:0.0:0.4373	.	90	Q9NRY5	F1142_HUMAN	N	90	ENSP00000341597:K90N;ENSP00000430489:K90N;ENSP00000430384:K90N;ENSP00000430186:K90N;ENSP00000428827:K90N;ENSP00000429753:K90N;ENSP00000428551:K90N	ENSP00000341597:K90N	K	-	3	2	FAM114A2	153394071	0.998000	0.40836	0.997000	0.53966	0.809000	0.45718	0.521000	0.22893	0.382000	0.24878	0.650000	0.86243	AAG	FAM114A2	-	pfam_DUF719	ENSG00000055147		0.408	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM114A2	HGNC	protein_coding	OTTHUMT00000252455.1	194	0.00	0	C	NM_018691		153413878	153413878	-1	no_errors	ENST00000351797	ensembl	human	known	69_37n	missense	162	17.35	34	SNP	1.000	A
FBN1	2200	genome.wustl.edu	37	15	48729188	48729188	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr15:48729188C>A	ENST00000316623.5	-	53	6921	c.6466G>T	c.(6466-6468)Ggt>Tgt	p.G2156C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2156	EGF-like 36; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGAATATAACCAAAGGGACAC	0.368																																						dbGAP											0													111.0	108.0	109.0					15																	48729188		2198	4296	6494	-	-	-	SO:0001583	missense	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.6466G>T	15.37:g.48729188C>A	ENSP00000325527:p.Gly2156Cys		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.G2156C	ENST00000316623.5	37	c.6466	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939709	0.92526	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.93019	-3.15	5.77	5.77	0.91146	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98188	0.9401	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98799	1.0739	10	0.87932	D	0	.	19.9576	0.97228	0.0:1.0:0.0:0.0	.	2156	P35555	FBN1_HUMAN	C	2156;724;1046	ENSP00000325527:G2156C	ENSP00000325527:G2156C	G	-	1	0	FBN1	46516480	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	GGT	FBN1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom	ENSG00000166147		0.368	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	301	0.00	0	C			48729188	48729188	-1	no_errors	ENST00000316623	ensembl	human	known	69_37n	missense	169	42.81	128	SNP	1.000	A
FBXW4	6468	genome.wustl.edu	37	10	103427732	103427732	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr10:103427732C>T	ENST00000331272.7	-	5	1299	c.681G>A	c.(679-681)tgG>tgA	p.W227*		NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	227					cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		AGGCCAAAGGCCACACCTAGA	0.572																																						dbGAP											0													91.0	88.0	89.0					10																	103427732		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	10847	protein-coding gene	gene with protein product		608071	"""split hand/foot malformation (ectrodactyly) type 3"", ""F-box and WD-40 domain protein 4"""	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.681G>A	10.37:g.103427732C>T	ENSP00000359149:p.Trp227*		Q5SVS1|Q96IM6	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W227*	ENST00000331272.7	37	c.681	CCDS31271.1	10	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587502	0.86851	.	.	ENSG00000107829	ENST00000331272;ENST00000389046;ENST00000457105;ENST00000431477	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2279	20.3046	0.98621	0.0:1.0:0.0:0.0	.	.	.	.	X	227;227;140;183	.	ENSP00000359149:W227X	W	-	3	0	FBXW4	103417722	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.989000	0.70587	2.878000	0.98634	0.650000	0.86243	TGG	FBXW4	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000107829		0.572	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW4	HGNC	protein_coding	OTTHUMT00000049979.2	165	0.00	0	C	NM_022039		103427732	103427732	-1	no_errors	ENST00000331272	ensembl	human	known	69_37n	nonsense	82	36.43	47	SNP	1.000	T
FGD5	152273	genome.wustl.edu	37	3	14861793	14861793	+	Silent	SNP	C	C	T			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr3:14861793C>T	ENST00000285046.5	+	1	1325	c.1215C>T	c.(1213-1215)gcC>gcT	p.A405A	FGD5_ENST00000543601.1_Silent_p.A164A	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	405					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)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|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)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GTGGAGCGGCCGAGGGTCCCG	0.652																																						dbGAP											0													24.0	29.0	27.0					3																	14861793		2030	4156	6186	-	-	-	SO:0001819	synonymous_variant	0			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1215C>T	3.37:g.14861793C>T			B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	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.A405	ENST00000285046.5	37	c.1215	CCDS46767.1	3																																																																																			FGD5	-	NULL	ENSG00000154783		0.652	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	HGNC	protein_coding	OTTHUMT00000340628.1	18	0.00	0	C	NM_152536		14861793	14861793	+1	no_errors	ENST00000285046	ensembl	human	known	69_37n	silent	36	35.71	20	SNP	0.001	T
FLT3	2322	genome.wustl.edu	37	13	28578204	28578204	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr13:28578204C>A	ENST00000241453.7	-	24	3048	c.2967G>T	c.(2965-2967)caG>caT	p.Q989H	FLT3_ENST00000380982.4_Missense_Mutation_p.Q992H|FLT3_ENST00000537084.1_Missense_Mutation_p.Q948H|FLT3_ENST00000469894.1_5'UTR	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	989					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATCTTCGACCTGAGCCTGCG	0.458			"""Mis, O"""		"""AML, ALL"""																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0													115.0	109.0	111.0					13																	28578204		2203	4300	6503	-	-	-	SO:0001583	missense	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2967G>T	13.37:g.28578204C>A	ENSP00000241453:p.Gln989His		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.Q992H	ENST00000241453.7	37	c.2976	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	C	6.172	0.399871	0.11696	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.78126	-1.08;-1.15;-0.87	4.32	-0.179	0.13299	.	0.736243	0.12684	N	0.447752	T	0.58793	0.2147	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39702	-0.9601	10	0.30078	T	0.28	.	6.9226	0.24397	0.2532:0.3008:0.446:0.0	.	948;989	P36888-2;P36888	.;FLT3_HUMAN	H	989;992;948	ENSP00000241453:Q989H;ENSP00000370369:Q992H;ENSP00000438139:Q948H	ENSP00000241453:Q989H	Q	-	3	2	FLT3	27476204	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-0.449000	0.06812	-0.318000	0.08665	0.561000	0.74099	CAG	FLT3	-	NULL	ENSG00000122025		0.458	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	HGNC	protein_coding	OTTHUMT00000044319.2	148	0.00	0	C			28578204	28578204	-1	no_errors	ENST00000380982	ensembl	human	known	69_37n	missense	184	18.22	41	SNP	0.000	A
FREM1	158326	genome.wustl.edu	37	9	14769772	14769772	+	Silent	SNP	G	G	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr9:14769772G>A	ENST00000380880.3	-	27	5937	c.5154C>T	c.(5152-5154)acC>acT	p.T1718T	FREM1_ENST00000380881.4_Silent_p.T1719T|FREM1_ENST00000422223.2_Silent_p.T1718T|FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000380894.1_Silent_p.T254T			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1718					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GAAATTCCACGGTATCTGAAT	0.353																																						dbGAP											0													94.0	91.0	92.0					9																	14769772		1810	4078	5888	-	-	-	SO:0001819	synonymous_variant	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5154C>T	9.37:g.14769772G>A			B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.T1719	ENST00000380880.3	37	c.5157	CCDS47952.1	9																																																																																			FREM1	-	NULL	ENSG00000164946		0.353	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	73	0.00	0	G	NM_144966		14769772	14769772	-1	no_errors	ENST00000380881	ensembl	human	known	69_37n	silent	39	29.82	17	SNP	0.001	A
FRG1B	284802	genome.wustl.edu	37	20	29612263	29612263	+	Intron	SNP	G	G	A	rs77399069		TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr20:29612263G>A	ENST00000278882.3	+	1	257				FRG1B_ENST00000439954.2_Intron|FRG1B_ENST00000468180.2_Intron|FRG1B_ENST00000358464.4_Intron			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GCCGGACCGCGGTTCCTGGCG	0.687																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.-124+150G>A	20.37:g.29612263G>A			C4AME5	RNA	SNP	-	NULL	ENST00000278882.3	37	NULL		20																																																																																			FRG1B	-	-	ENSG00000149531		0.687	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FRG1B	HGNC	protein_coding	OTTHUMT00000078494.2	12	0.00	0	G	NR_003579		29612263	29612263	+1	no_errors	ENST00000482423	ensembl	human	known	69_37n	rna	1	80.00	4	SNP	0.000	A
FZD6	8323	genome.wustl.edu	37	8	104337129	104337129	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr8:104337129G>C	ENST00000358755.4	+	4	1112	c.795G>C	c.(793-795)gaG>gaC	p.E265D	FZD6_ENST00000522566.1_Missense_Mutation_p.E265D|FZD6_ENST00000523739.1_Missense_Mutation_p.E233D|FZD6_ENST00000540287.1_Intron	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	265					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AGGCAGATGAGAAGCTAGAAC	0.403																																						dbGAP											0													155.0	136.0	143.0					8																	104337129		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.795G>C	8.37:g.104337129G>C	ENSP00000351605:p.Glu265Asp		B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.E265D	ENST00000358755.4	37	c.795	CCDS6298.1	8	.	.	.	.	.	.	.	.	.	.	G	7.990	0.753024	0.15778	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000539487	D;D;D	0.82081	-1.57;-1.57;-1.57	5.88	0.34	0.15985	GPCR, family 2-like (1);	0.611032	0.18424	N	0.141650	T	0.57577	0.2063	N	0.04260	-0.245	0.80722	D	1	B;B;B	0.16166	0.009;0.016;0.009	B;B;B	0.17979	0.02;0.015;0.02	T	0.27468	-1.0073	10	0.19147	T	0.46	.	4.3553	0.11176	0.4007:0.0:0.3437:0.2556	.	210;265;265	B4E236;B2R9H9;O60353	.;.;FZD6_HUMAN	D	265;265;233;210	ENSP00000429055:E265D;ENSP00000351605:E265D;ENSP00000429528:E233D	ENSP00000351605:E265D	E	+	3	2	FZD6	104406305	0.997000	0.39634	0.998000	0.56505	0.959000	0.62525	0.277000	0.18734	0.104000	0.17725	-0.293000	0.09583	GAG	FZD6	-	pfam_Frizzled,pfscan_GPCR_2-like	ENSG00000164930		0.403	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD6	HGNC	protein_coding	OTTHUMT00000380560.1	212	0.00	0	G	NM_003506		104337129	104337129	+1	no_errors	ENST00000358755	ensembl	human	known	69_37n	missense	378	11.68	50	SNP	0.991	C
GABRQ	55879	genome.wustl.edu	37	X	151815563	151815563	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chrX:151815563A>T	ENST00000370306.2	+	4	481	c.461A>T	c.(460-462)cAt>cTt	p.H154L		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	154					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCTTTCGTGCATGATGTGACT	0.542																																						dbGAP											0													276.0	191.0	220.0					X																	151815563		2203	4300	6503	-	-	-	SO:0001583	missense	0			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.461A>T	X.37:g.151815563A>T	ENSP00000359329:p.His154Leu		A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.H154L	ENST00000370306.2	37	c.461	CCDS14707.1	X	.	.	.	.	.	.	.	.	.	.	A	17.08	3.298287	0.60195	.	.	ENSG00000147402	ENST00000370306	T	0.80033	-1.33	5.19	4.0	0.46444	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.44285	D	0.000473	D	0.89726	0.6798	M	0.93106	3.38	0.38440	D	0.946679	D	0.64830	0.994	P	0.61592	0.891	D	0.90519	0.4487	10	0.87932	D	0	.	9.5417	0.39255	0.8248:0.1752:0.0:0.0	.	154	Q9UN88	GBRT_HUMAN	L	154	ENSP00000359329:H154L	ENSP00000359329:H154L	H	+	2	0	GABRQ	151566219	1.000000	0.71417	0.379000	0.26080	0.380000	0.30137	7.469000	0.80959	0.617000	0.30160	0.441000	0.28932	CAT	GABRQ	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000147402		0.542	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRQ	HGNC	protein_coding	OTTHUMT00000058763.2	124	0.00	0	A	NM_018558		151815563	151815563	+1	no_errors	ENST00000370306	ensembl	human	known	69_37n	missense	92	22.03	26	SNP	1.000	T
GRAP2	9402	genome.wustl.edu	37	22	40366922	40366922	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr22:40366922C>G	ENST00000344138.4	+	8	1090	c.827C>G	c.(826-828)gCc>gGc	p.A276G	GRAP2_ENST00000540310.1_Missense_Mutation_p.A210G|GRAP2_ENST00000407075.3_Missense_Mutation_p.A276G|GRAP2_ENST00000543252.1_Missense_Mutation_p.A236G|GRAP2_ENST00000399090.2_Missense_Mutation_p.A163G|GRAP2_ENST00000544756.1_Missense_Mutation_p.A204G	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	276	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GTGCGGTGGGCCCGGGCGCTG	0.652																																						dbGAP											0													41.0	43.0	43.0					22																	40366922		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"""SH2 domain containing"""	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.827C>G	22.37:g.40366922C>G	ENSP00000339186:p.Ala276Gly		B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH2,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.A276G	ENST00000344138.4	37	c.827	CCDS13999.1	22	.	.	.	.	.	.	.	.	.	.	C	18.19	3.570058	0.65765	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000544006;ENST00000540310;ENST00000544756;ENST00000399090;ENST00000407075	T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4	5.45	4.44	0.53790	Src homology-3 domain (4);	0.360591	0.30920	N	0.008614	T	0.43211	0.1237	L	0.45698	1.435	0.36637	D	0.876641	D;P;D;D;P	0.69078	0.997;0.89;0.978;0.958;0.89	P;B;P;P;B	0.60609	0.877;0.34;0.805;0.531;0.34	T	0.52087	-0.8622	10	0.66056	D	0.02	-27.0119	5.1832	0.15171	0.0:0.7165:0.0:0.2835	.	163;276;210;250;276	B7Z8I3;Q6FI14;F5H548;B7Z8F8;O75791	.;.;.;.;GRAP2_HUMAN	G	276;236;250;210;204;163;276	ENSP00000339186:A276G;ENSP00000446350:A236G;ENSP00000444734:A210G;ENSP00000442195:A204G;ENSP00000382040:A163G;ENSP00000385607:A276G	ENSP00000339186:A276G	A	+	2	0	GRAP2	38696868	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	3.603000	0.54074	2.544000	0.85801	0.557000	0.71058	GCC	GRAP2	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	ENSG00000100351		0.652	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAP2	HGNC	protein_coding	OTTHUMT00000321295.1	27	0.00	0	C	NM_004810		40366922	40366922	+1	no_errors	ENST00000344138	ensembl	human	known	69_37n	missense	36	21.74	10	SNP	0.997	G
HLA-DRB1	3123	genome.wustl.edu	37	6	32551998	32551998	+	Silent	SNP	G	G	A	rs17853228		TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr6:32551998G>A	ENST00000360004.5	-	2	363	c.258C>T	c.(256-258)gaC>gaT	p.D86D		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	86	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						AGTACTCAGCGTCAGGCCGCC	0.627										Multiple Myeloma(14;0.17)																												dbGAP											0													37.0	40.0	39.0					6																	32551998		2188	4283	6471	-	-	-	SO:0001819	synonymous_variant	0			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.258C>T	6.37:g.32551998G>A			P01914|Q9MYF5	Silent	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.D86	ENST00000360004.5	37	c.258	CCDS47409.1	6																																																																																			HLA-DRB1	-	pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N	ENSG00000196126		0.627	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB1	HGNC	protein_coding	OTTHUMT00000076393.3	9	0.00	0	G	NM_002124		32551998	32551998	-1	no_errors	ENST00000360004	ensembl	human	known	69_37n	silent	21	55.32	26	SNP	0.001	A
HMCN1	83872	genome.wustl.edu	37	1	185902893	185902893	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr1:185902893T>A	ENST00000271588.4	+	11	1994	c.1765T>A	c.(1765-1767)Tat>Aat	p.Y589N	HMCN1_ENST00000367492.2_Missense_Mutation_p.Y589N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	589	Ig-like C2-type 2.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGCTGGAGAGTATCATTGTAT	0.438																																						dbGAP											0													160.0	154.0	156.0					1																	185902893		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1765T>A	1.37:g.185902893T>A	ENSP00000271588:p.Tyr589Asn		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.Y589N	ENST00000271588.4	37	c.1765	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	T	18.44	3.624209	0.66901	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.73469	-0.75;-0.75	5.67	5.67	0.87782	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91994	0.7464	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95106	0.8234	10	0.87932	D	0	.	15.5819	0.76448	0.0:0.0:0.0:1.0	.	589	Q96RW7	HMCN1_HUMAN	N	589	ENSP00000271588:Y589N;ENSP00000356462:Y589N	ENSP00000271588:Y589N	Y	+	1	0	HMCN1	184169516	1.000000	0.71417	0.976000	0.42696	0.285000	0.27093	7.281000	0.78621	2.164000	0.68074	0.533000	0.62120	TAT	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000143341		0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	140	0.00	0	T	NM_031935		185902893	185902893	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	217	17.11	45	SNP	1.000	A
HNRNPF	3185	genome.wustl.edu	37	10	43882166	43882166	+	Frame_Shift_Del	DEL	G	G	-	rs375590998		TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr10:43882166delG	ENST00000544000.1	-	4	1574	c.1167delC	c.(1165-1167)tacfs	p.Y389fs	HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000337970.3_Frame_Shift_Del_p.Y389fs|HNRNPF_ENST00000357065.4_Frame_Shift_Del_p.Y389fs|HNRNPF_ENST00000443950.2_Frame_Shift_Del_p.Y389fs|HNRNPF_ENST00000356053.3_Frame_Shift_Del_p.Y389fs	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	389					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.Y389Y(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CCAGGCCACTGTAAGTGGCCT	0.537																																						dbGAP											4	Substitution - coding silent(4)	lung(4)											59.0	72.0	68.0					10																	43882166		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.1167delC	10.37:g.43882166delG	ENSP00000438061:p.Tyr389fs		B3KM84|Q5T0N2|Q96AU2	Frame_Shift_Del	DEL	pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom	p.Y389fs	ENST00000544000.1	37	c.1167	CCDS7204.1	10																																																																																			HNRNPF	-	NULL	ENSG00000169813		0.537	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPF	HGNC	protein_coding	OTTHUMT00000047705.2	24	0.00	0	G			43882166	43882166	-1	no_errors	ENST00000337970	ensembl	human	known	69_37n	frame_shift_del	38	22.00	11	DEL	0.995	-
IGLV5-48	28780	genome.wustl.edu	37	22	22707541	22707541	+	RNA	SNP	G	G	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr22:22707541G>C	ENST00000390293.1	+	0	129									immunoglobulin lambda variable 5-48 (non-functional)																		CCTGCACCTTGCGCAGTGGCA	0.542																																						dbGAP											0													113.0	116.0	115.0					22																	22707541		2047	4221	6268	-	-	-			0			Z73649		22q11.2	2012-02-08	2008-09-15		ENSG00000211647	ENSG00000211647		"""Immunoglobulins / IGL locus"""	5925	other	immunoglobulin gene			"""immunoglobulin lambda variable 5-48"""				Standard	NG_000002		Approved				OTTHUMG00000151041		22.37:g.22707541G>C				Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L43F	ENST00000390293.1	37	c.129		22																																																																																			IGLV5-48	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211647		0.542	IGLV5-48-001	KNOWN	not_best_in_genome_evidence|mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGLV5-48	HGNC	IG_V_gene	OTTHUMT00000321100.2	321	0.00	0	G	NG_000002		22707541	22707541	+1	no_stop_codon	ENST00000390293	ensembl	human	known	69_37n	missense	343	12.66	50	SNP	0.792	C
INTS3	65123	genome.wustl.edu	37	1	153735214	153735214	+	Silent	SNP	G	G	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr1:153735214G>A	ENST00000318967.2	+	15	2095	c.1527G>A	c.(1525-1527)gaG>gaA	p.E509E	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Silent_p.E509E|INTS3_ENST00000512605.1_Silent_p.E303E|INTS3_ENST00000456435.1_Silent_p.E303E	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	510					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCAAAATTGAGGAGCCAGTTT	0.468																																						dbGAP											0													72.0	69.0	70.0					1																	153735214		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.1527G>A	1.37:g.153735214G>A			A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Silent	SNP	pfam_Integrator_3	p.E509	ENST00000318967.2	37	c.1527	CCDS1052.1	1																																																																																			INTS3	-	NULL	ENSG00000143624		0.468	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	HGNC	protein_coding	OTTHUMT00000090045.2	72	0.00	0	G	NM_023015		153735214	153735214	+1	no_errors	ENST00000318967	ensembl	human	known	69_37n	silent	84	22.94	25	SNP	0.997	A
IPO9	55705	genome.wustl.edu	37	1	201822199	201822199	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr1:201822199A>G	ENST00000361565.4	+	6	733	c.664A>G	c.(664-666)Atc>Gtc	p.I222V	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	222					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TGCCCATATGATCTGTAACAT	0.438																																						dbGAP											0													217.0	204.0	208.0					1																	201822199		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.664A>G	1.37:g.201822199A>G	ENSP00000354742:p.Ile222Val		B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.I222V	ENST00000361565.4	37	c.664	CCDS1415.1	1	.	.	.	.	.	.	.	.	.	.	A	18.32	3.598912	0.66332	.	.	ENSG00000198700	ENST00000361565	T	0.68181	-0.31	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56949	0.2020	L	0.45422	1.42	0.80722	D	1	P	0.39116	0.66	B	0.35971	0.215	T	0.56141	-0.8028	10	0.25106	T	0.35	-10.324	13.816	0.63292	1.0:0.0:0.0:0.0	.	222	Q96P70	IPO9_HUMAN	V	222	ENSP00000354742:I222V	ENSP00000354742:I222V	I	+	1	0	IPO9	200088822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.849000	0.69465	2.162000	0.67917	0.455000	0.32223	ATC	IPO9	-	superfamily_ARM-type_fold	ENSG00000198700		0.438	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO9	HGNC	protein_coding	OTTHUMT00000087088.1	201	0.50	1	A	NM_018085		201822199	201822199	+1	no_errors	ENST00000361565	ensembl	human	known	69_37n	missense	368	11.30	47	SNP	1.000	G
ICE1	23379	genome.wustl.edu	37	5	5466609	5466611	+	In_Frame_Del	DEL	AAA	AAA	-			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr5:5466609_5466611delAAA	ENST00000296564.7	+	14	6277_6279	c.6055_6057delAAA	c.(6055-6057)aaadel	p.K2019del		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2019					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CAGCCTACTTAAAGAAGGTATGC	0.409																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0																														ENST00000296564.7:c.6055_6057delAAA	5.37:g.5466609_5466611delAAA	ENSP00000296564:p.Lys2019del		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	In_Frame_Del	DEL	superfamily_Vitellinogen_superhlx	p.K2019in_frame_del	ENST00000296564.7	37	c.6055_6057	CCDS47187.1	5																																																																																			KIAA0947	-	NULL	ENSG00000164151		0.409	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	80	0.00	0	AAA			5466609	5466611	+1	no_errors	ENST00000296564	ensembl	human	known	69_37n	in_frame_del	85	26.67	32	DEL	0.993:0.998:0.997	-
RIC1	57589	genome.wustl.edu	37	9	5763843	5763843	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr9:5763843C>T	ENST00000414202.2	+	19	3007	c.2816C>T	c.(2815-2817)gCt>gTt	p.A939V	KIAA1432_ENST00000418622.3_Missense_Mutation_p.A860V|KIAA1432_ENST00000381532.2_Missense_Mutation_p.A860V|KIAA1432_ENST00000449720.2_Missense_Mutation_p.A823V|KIAA1432_ENST00000251879.6_Missense_Mutation_p.A939V	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TTGGACACAGCTGCCTCTTAC	0.388																																						dbGAP											0													106.0	109.0	108.0					9																	5763843		2203	4296	6499	-	-	-	SO:0001583	missense	0																														ENST00000414202.2:c.2816C>T	9.37:g.5763843C>T	ENSP00000416696:p.Ala939Val			Missense_Mutation	SNP	pfam_Ribosome_control_1,superfamily_WD40_repeat_dom	p.A860V	ENST00000414202.2	37	c.2579	CCDS34982.2	9	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939162	0.92526	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.	.	.	5.91	5.91	0.95273	Ribosome control protein 1 (1);	0.000000	0.85682	D	0.000000	D	0.87505	0.6194	M	0.93720	3.45	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.89675	0.3886	9	0.87932	D	0	-17.7155	20.2885	0.98538	0.0:1.0:0.0:0.0	.	823;860;939;939	B7ZM67;B2RN24;Q4ADV7;G5E932	.;.;RIC1_HUMAN;.	V	939;939;860;860;823	.	ENSP00000251879:A939V	A	+	2	0	KIAA1432	5753843	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.791000	0.96007	0.650000	0.86243	GCT	KIAA1432	-	pfam_Ribosome_control_1	ENSG00000107036		0.388	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA1432	HGNC	protein_coding	OTTHUMT00000051636.3	475	0.00	0	C			5763843	5763843	+1	no_errors	ENST00000418622	ensembl	human	known	69_37n	missense	360	18.33	81	SNP	1.000	T
KLHL24	54800	genome.wustl.edu	37	3	183382765	183382765	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr3:183382765A>G	ENST00000454652.2	+	6	1548	c.1162A>G	c.(1162-1164)Atc>Gtc	p.I388V	KLHL24_ENST00000476808.1_Missense_Mutation_p.I388V|KLHL24_ENST00000242810.6_Missense_Mutation_p.I388V	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	388						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AAATATTTGGATCAGAGTTGC	0.378																																						dbGAP											0													130.0	130.0	130.0					3																	183382765		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.1162A>G	3.37:g.183382765A>G	ENSP00000395012:p.Ile388Val		A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.I388V	ENST00000454652.2	37	c.1162	CCDS3246.1	3	.	.	.	.	.	.	.	.	.	.	A	13.77	2.337404	0.41398	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	T;T;T	0.76709	-1.04;-1.04;-1.04	5.34	5.34	0.76211	Galactose oxidase, beta-propeller (1);	0.045725	0.85682	D	0.000000	T	0.66268	0.2772	N	0.20986	0.625	0.58432	D	0.999999	B;B	0.18013	0.011;0.025	B;B	0.24701	0.003;0.055	T	0.61073	-0.7136	10	0.15499	T	0.54	.	15.6147	0.76756	1.0:0.0:0.0:0.0	.	388;388	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	V	388	ENSP00000242810:I388V;ENSP00000395012:I388V;ENSP00000419010:I388V	ENSP00000242810:I388V	I	+	1	0	KLHL24	184865459	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.328000	0.72915	2.148000	0.66965	0.533000	0.62120	ATC	KLHL24	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000114796		0.378	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KLHL24	HGNC	protein_coding	OTTHUMT00000346586.2	226	0.00	0	A	NM_017644		183382765	183382765	+1	no_errors	ENST00000242810	ensembl	human	known	69_37n	missense	186	21.10	50	SNP	1.000	G
KLK3	354	genome.wustl.edu	37	19	51361847	51361847	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr19:51361847G>A	ENST00000326003.2	+	4	667	c.626G>A	c.(625-627)tGc>tAc	p.C209Y	KLK3_ENST00000595952.1_Missense_Mutation_p.C166Y|KLK3_ENST00000597483.1_Missense_Mutation_p.C166Y|KLK3_ENST00000593997.1_Missense_Mutation_p.C209Y|KLK3_ENST00000360617.3_Missense_Mutation_p.C209Y	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	209	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		AAAAGCACCTGCTCGGTGAGT	0.552																																					Colon(185;1767 2023 13025 30120 37630)	dbGAP											0													111.0	101.0	104.0					19																	51361847		2203	4300	6503	-	-	-	SO:0001583	missense	0			X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.626G>A	19.37:g.51361847G>A	ENSP00000314151:p.Cys209Tyr		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.C209Y	ENST00000326003.2	37	c.626	CCDS12807.1	19	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532881	0.45073	.	.	ENSG00000142515	ENST00000326003;ENST00000422986;ENST00000360617;ENST00000326052	D;D	0.92299	-3.01;-3.01	3.11	3.11	0.35812	.	0.000000	0.41938	D	0.000789	D	0.96839	0.8968	H	0.95917	3.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.96820	0.9603	10	0.87932	D	0	.	10.3518	0.43941	0.0:0.0:1.0:0.0	.	168;209;166	Q8NCW4;G3XAE3;G3V0H4	.;.;.	Y	209;166;209;168	ENSP00000314151:C209Y;ENSP00000353829:C209Y	ENSP00000314151:C209Y	C	+	2	0	KLK3	56053659	0.847000	0.29606	0.022000	0.16811	0.078000	0.17371	2.192000	0.42649	1.668000	0.50843	0.400000	0.26472	TGC	KLK3	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	ENSG00000142515		0.552	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK3	HGNC	protein_coding	OTTHUMT00000464067.1	112	0.00	0	G	NM_145864		51361847	51361847	+1	no_errors	ENST00000326003	ensembl	human	known	69_37n	missense	89	25.21	30	SNP	0.170	A
LAMA3	3909	genome.wustl.edu	37	18	21364028	21364028	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr18:21364028G>A	ENST00000313654.9	+	12	1751	c.1510G>A	c.(1510-1512)Gat>Aat	p.D504N	LAMA3_ENST00000399516.3_Missense_Mutation_p.D504N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	504	Domain V.|Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TGAAATATGTGATGCCCACGG	0.512																																						dbGAP											0													172.0	175.0	174.0					18																	21364028		1928	4131	6059	-	-	-	SO:0001583	missense	0			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1510G>A	18.37:g.21364028G>A	ENSP00000324532:p.Asp504Asn		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Growth_fac_rcpt,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.D504N	ENST00000313654.9	37	c.1510	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361853	0.61403	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.38722	1.12;1.12	5.65	4.78	0.61160	EGF-like, laminin (3);	.	.	.	.	T	0.54806	0.1881	L	0.46885	1.475	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.964;1.0;0.999	T	0.51036	-0.8756	9	0.33940	T	0.23	.	11.9267	0.52823	0.0817:0.0:0.9183:0.0	.	506;504;504	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	N	504;504;502;506	ENSP00000324532:D504N;ENSP00000382432:D504N	ENSP00000324532:D504N	D	+	1	0	LAMA3	19618026	1.000000	0.71417	0.891000	0.34965	0.107000	0.19398	4.642000	0.61383	1.400000	0.46741	0.655000	0.94253	GAT	LAMA3	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EGF-like,pfscan_EGF_laminin	ENSG00000053747		0.512	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	253	0.00	0	G	NM_000227, NM_198129		21364028	21364028	+1	no_errors	ENST00000313654	ensembl	human	known	69_37n	missense	228	23.41	70	SNP	1.000	A
LIN9	286826	genome.wustl.edu	37	1	226474154	226474154	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr1:226474154A>C	ENST00000328205.5	-	6	997	c.452T>G	c.(451-453)cTt>cGt	p.L151R	LIN9_ENST00000481685.1_Missense_Mutation_p.L116R|LIN9_ENST00000366801.1_Missense_Mutation_p.L100R	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	135	Sufficient for interaction with RB1.				DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		ACCTTCAAAAAGTGGTCTGTA	0.313																																					Ovarian(197;1696 2974 11248 14117)	dbGAP											0													52.0	56.0	54.0					1																	226474154		2202	4298	6500	-	-	-	SO:0001583	missense	0			AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.452T>G	1.37:g.226474154A>C	ENSP00000329102:p.Leu151Arg		Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	pfam_DIRP	p.L151R	ENST00000328205.5	37	c.452	CCDS1553.1	1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.366701	0.82463	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.84270	0.5435	M	0.87269	2.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.86958	0.2090	9	0.72032	D	0.01	.	16.2265	0.82298	1.0:0.0:0.0:0.0	.	116;135;285	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	R	111;151;206;100;116;285	.	ENSP00000329102:L151R	L	-	2	0	LIN9	224540777	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.707000	0.91367	2.233000	0.73108	0.533000	0.62120	CTT	LIN9	-	pfam_DIRP	ENSG00000183814		0.313	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN9	HGNC	protein_coding	OTTHUMT00000091523.2	108	0.00	0	A	NM_173083		226474154	226474154	-1	no_errors	ENST00000328205	ensembl	human	known	69_37n	missense	198	30.56	88	SNP	0.999	C
LRFN2	57497	genome.wustl.edu	37	6	40400435	40400435	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr6:40400435C>T	ENST00000338305.6	-	2	960	c.418G>A	c.(418-420)Gca>Aca	p.A140T		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	140						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCTCATCTGCGATGCCGCCC	0.592																																						dbGAP											0													65.0	60.0	62.0					6																	40400435		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.418G>A	6.37:g.40400435C>T	ENSP00000345985:p.Ala140Thr		A5PKU3|Q5SYP9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A140T	ENST00000338305.6	37	c.418	CCDS34443.1	6	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681696	0.29872	.	.	ENSG00000156564	ENST00000338305	T	0.02395	4.31	5.76	4.84	0.62591	.	0.210371	0.50627	D	0.000106	T	0.01156	0.0038	N	0.16066	0.365	0.39632	D	0.970198	P	0.38020	0.615	B	0.40199	0.322	T	0.69053	-0.5247	10	0.27082	T	0.32	.	13.3505	0.60599	0.2253:0.7747:0.0:0.0	.	140	Q9ULH4	LRFN2_HUMAN	T	140	ENSP00000345985:A140T	ENSP00000345985:A140T	A	-	1	0	LRFN2	40508413	1.000000	0.71417	0.761000	0.31378	0.334000	0.28698	4.444000	0.60001	2.736000	0.93811	0.655000	0.94253	GCA	LRFN2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000156564		0.592	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN2	HGNC	protein_coding	OTTHUMT00000040488.1	41	0.00	0	C	XM_166372		40400435	40400435	-1	no_errors	ENST00000338305	ensembl	human	known	69_37n	missense	36	28.00	14	SNP	0.843	T
LRIT1	26103	genome.wustl.edu	37	10	85992189	85992189	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr10:85992189T>C	ENST00000372105.3	-	4	1387	c.1366A>G	c.(1366-1368)Aca>Gca	p.T456A		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	456	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AAGGCAGTTGTGTTCTTAGCC	0.592																																						dbGAP											0													95.0	70.0	78.0					10																	85992189		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1366A>G	10.37:g.85992189T>C	ENSP00000361177:p.Thr456Ala		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T456A	ENST00000372105.3	37	c.1366	CCDS7373.1	10	.	.	.	.	.	.	.	.	.	.	T	14.16	2.453259	0.43531	.	.	ENSG00000148602	ENST00000372105	T	0.56275	0.47	5.72	0.812	0.18744	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.205364	0.51477	N	0.000099	T	0.44705	0.1306	M	0.72894	2.215	0.37563	D	0.919129	B	0.14012	0.009	B	0.18561	0.022	T	0.37197	-0.9716	10	0.10902	T	0.67	.	9.1157	0.36755	0.0:0.281:0.0:0.719	.	456	Q9P2V4	LRIT1_HUMAN	A	456	ENSP00000361177:T456A	ENSP00000361177:T456A	T	-	1	0	LRIT1	85982169	1.000000	0.71417	0.000000	0.03702	0.952000	0.60782	2.640000	0.46579	-0.092000	0.12417	0.533000	0.62120	ACA	LRIT1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000148602		0.592	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT1	HGNC	protein_coding	OTTHUMT00000049109.1	32	0.00	0	T	NM_015613		85992189	85992189	-1	no_errors	ENST00000372105	ensembl	human	known	69_37n	missense	18	28.00	7	SNP	0.800	C
LY9	4063	genome.wustl.edu	37	1	160769678	160769678	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr1:160769678T>C	ENST00000263285.6	+	2	290	c.260T>C	c.(259-261)cTt>cCt	p.L87P	LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368037.5_Missense_Mutation_p.L87P|LY9_ENST00000392203.4_Missense_Mutation_p.L87P|LY9_ENST00000368041.2_Missense_Mutation_p.L47P|LY9_ENST00000341032.4_Missense_Mutation_p.L87P|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368039.2_Missense_Mutation_p.L87P			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	87	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AAAAATGCTCTTGCTTTCGCA	0.488																																						dbGAP											0													99.0	95.0	96.0					1																	160769678		2203	4300	6503	-	-	-	SO:0001583	missense	0			L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.260T>C	1.37:g.160769678T>C	ENSP00000263285:p.Leu87Pro		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.L87P	ENST00000263285.6	37	c.260	CCDS30916.1	1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.245397	0.39697	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000368039;ENST00000392203;ENST00000368037	T;T;T	0.68903	1.73;1.73;-0.36	4.04	2.9	0.33743	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.006500	0.04532	N	0.386522	T	0.75287	0.3829	M	0.86740	2.835	0.19300	N	0.999979	D;P;D;D;D;D	0.89917	0.999;0.819;0.999;1.0;0.999;1.0	D;B;D;D;D;D	0.77004	0.981;0.231;0.96;0.977;0.95;0.989	T	0.46830	-0.9163	10	0.87932	D	0	-6.2738	6.0539	0.19800	0.0:0.1189:0.0:0.8811	.	87;47;87;87;87;87	B4E0J5;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7;Q6P2J4	.;.;.;.;LY9_HUMAN;.	P	87;87;87;87;87;47;47	ENSP00000342921:L87P;ENSP00000263285:L87P;ENSP00000357018:L87P	ENSP00000263285:L87P	L	+	2	0	LY9	159036302	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.624000	0.24462	0.704000	0.31869	0.460000	0.39030	CTT	LY9	-	smart_Ig_sub	ENSG00000122224		0.488	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LY9	HGNC	protein_coding	OTTHUMT00000060457.3	99	0.00	0	T	NM_002348		160769678	160769678	+1	no_errors	ENST00000263285	ensembl	human	known	69_37n	missense	108	16.15	21	SNP	0.001	C
MAP2	4133	genome.wustl.edu	37	2	210559236	210559236	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr2:210559236A>T	ENST00000360351.4	+	7	2848	c.2342A>T	c.(2341-2343)cAa>cTa	p.Q781L	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.Q777L|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	781					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GAAAGTACTCAAGCGGAGATA	0.458																																					Pancreas(27;423 979 28787 29963)	dbGAP											0													90.0	90.0	90.0					2																	210559236		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2342A>T	2.37:g.210559236A>T	ENSP00000353508:p.Gln781Leu		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.Q781L	ENST00000360351.4	37	c.2342	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	A	9.248	1.039991	0.19669	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.23147	1.92;1.92	5.96	2.16	0.27623	MAP2/Tau projection (1);	0.530450	0.18612	N	0.136136	T	0.22589	0.0545	L	0.50333	1.59	0.40297	D	0.978568	B;B	0.32010	0.302;0.351	B;B	0.31390	0.079;0.129	T	0.04664	-1.0935	10	0.87932	D	0	-1.8654	8.5592	0.33501	0.6921:0.2446:0.0633:0.0	.	777;781	P11137-3;P11137	.;MAP2_HUMAN	L	781;777	ENSP00000353508:Q781L;ENSP00000392164:Q777L	ENSP00000353508:Q781L	Q	+	2	0	MAP2	210267481	0.999000	0.42202	0.032000	0.17829	0.421000	0.31385	2.459000	0.45023	0.125000	0.18397	0.528000	0.53228	CAA	MAP2	-	pfam_MAP2_projctn	ENSG00000078018		0.458	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	332	0.00	0	A	NM_001039538		210559236	210559236	+1	no_errors	ENST00000360351	ensembl	human	known	69_37n	missense	236	16.78	48	SNP	0.968	T
MORC1	27136	genome.wustl.edu	37	3	108724000	108724000	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr3:108724000A>C	ENST00000483760.1	-	18	1910	c.1867T>G	c.(1867-1869)Tct>Gct	p.S623A	MORC1_ENST00000232603.5_Missense_Mutation_p.S644A					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TCCTCCATAGACTTTTTCATA	0.378																																						dbGAP											0													92.0	95.0	94.0					3																	108724000		2201	4300	6501	-	-	-	SO:0001583	missense	0			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1867T>G	3.37:g.108724000A>C	ENSP00000417282:p.Ser623Ala			Missense_Mutation	SNP	pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.S644A	ENST00000483760.1	37	c.1930		3	.	.	.	.	.	.	.	.	.	.	A	8.544	0.873995	0.17395	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06449	3.31;3.3	4.33	1.73	0.24493	.	1.924570	0.02577	N	0.098424	T	0.04092	0.0114	N	0.20986	0.625	0.09310	N	1	B;P	0.34977	0.131;0.478	B;B	0.27380	0.058;0.079	T	0.36480	-0.9746	10	0.14656	T	0.56	-6.6589	3.2805	0.06913	0.6166:0.0:0.1127:0.2707	.	623;644	E7ERX1;Q86VD1	.;MORC1_HUMAN	A	644;623	ENSP00000232603:S644A;ENSP00000417282:S623A	ENSP00000232603:S644A	S	-	1	0	MORC1	110206690	0.055000	0.20627	0.003000	0.11579	0.003000	0.03518	0.428000	0.21395	0.363000	0.24346	0.455000	0.32223	TCT	MORC1	-	NULL	ENSG00000114487		0.378	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	HGNC	protein_coding	OTTHUMT00000353844.1	392	0.00	0	A			108724000	108724000	-1	no_errors	ENST00000232603	ensembl	human	known	69_37n	missense	228	34.38	120	SNP	0.004	C
MTG1	92170	genome.wustl.edu	37	10	135215097	135215097	+	Intron	SNP	G	G	T			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr10:135215097G>T	ENST00000317502.6	+	7	623				MTG1_ENST00000477902.2_Intron|RP11-108K14.8_ENST00000468317.2_Intron	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1						GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		AAATTCAGGTGGAGTCCTCAG	0.587																																						dbGAP											0													54.0	54.0	54.0					10																	135215097		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.573+3G>T	10.37:g.135215097G>T			Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	RNA	SNP	-	NULL	ENST00000317502.6	37	NULL	CCDS31320.1	10																																																																																			MTG1	-	-	ENSG00000148824		0.587	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	MTG1	Clone_based_vega_gene	protein_coding	OTTHUMT00000051166.1	14	0.00	0	G	NM_138384		135215097	135215097	+1	no_errors	ENST00000460848	ensembl	human	known	69_37n	rna	13	27.78	5	SNP	0.451	T
NBEAL2	23218	genome.wustl.edu	37	3	47041682	47041682	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr3:47041682G>C	ENST00000450053.3	+	27	4272	c.4093G>C	c.(4093-4095)Gta>Cta	p.V1365L	NBEAL2_ENST00000292309.5_Intron|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1365					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ACGGTCTAGTGTAGGATCAGG	0.637																																						dbGAP											0													107.0	113.0	111.0					3																	47041682		2096	4219	6315	-	-	-	SO:0001583	missense	0			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4093G>C	3.37:g.47041682G>C	ENSP00000415034:p.Val1365Leu		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V1365L	ENST00000450053.3	37	c.4093	CCDS46817.1	3	.	.	.	.	.	.	.	.	.	.	G	11.64	1.700140	0.30142	.	.	ENSG00000160796	ENST00000450053	T	0.57273	0.41	5.48	2.21	0.28008	.	.	.	.	.	T	0.36358	0.0964	N	0.25647	0.755	0.18873	N	0.999985	B	0.13145	0.007	B	0.08055	0.003	T	0.19160	-1.0314	9	0.19590	T	0.45	.	10.2213	0.43198	0.2638:0.0:0.7362:0.0	.	1365	Q6ZNJ1	NBEL2_HUMAN	L	1365	ENSP00000415034:V1365L	ENSP00000415034:V1365L	V	+	1	0	NBEAL2	47016686	0.000000	0.05858	0.529000	0.27951	0.633000	0.38033	0.046000	0.14035	0.668000	0.31126	0.561000	0.74099	GTA	NBEAL2	-	NULL	ENSG00000160796		0.637	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	18	0.00	0	G	XM_291064		47041682	47041682	+1	no_errors	ENST00000450053	ensembl	human	known	69_37n	missense	10	37.50	6	SNP	0.035	C
NECAB1	64168	genome.wustl.edu	37	8	91929817	91929817	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr8:91929817G>A	ENST00000417640.2	+	6	792	c.455G>A	c.(454-456)tGt>tAt	p.C152Y		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	152						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			TCCCTGGAATGTGCCATGGAA	0.388																																						dbGAP											0													113.0	111.0	111.0					8																	91929817		1848	4101	5949	-	-	-	SO:0001583	missense	0			AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.455G>A	8.37:g.91929817G>A	ENSP00000387380:p.Cys152Tyr		Q6NUS7|Q96AZ7|Q9HBW8	Missense_Mutation	SNP	pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.C152Y	ENST00000417640.2	37	c.455	CCDS47889.1	8	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465614	0.84425	.	.	ENSG00000123119	ENST00000417640	T	0.19105	2.17	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.37183	0.0994	M	0.66939	2.045	0.80722	D	1	D	0.56521	0.976	P	0.50708	0.648	T	0.22068	-1.0227	10	0.66056	D	0.02	-8.3194	18.9717	0.92718	0.0:0.0:1.0:0.0	.	152	Q8N987	NECA1_HUMAN	Y	152	ENSP00000387380:C152Y	ENSP00000387380:C152Y	C	+	2	0	NECAB1	91998993	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.778000	0.91785	2.463000	0.83235	0.467000	0.42956	TGT	NECAB1	-	NULL	ENSG00000123119		0.388	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NECAB1	HGNC	protein_coding	OTTHUMT00000376728.1	169	0.00	0	G	NM_022351		91929817	91929817	+1	no_errors	ENST00000417640	ensembl	human	known	69_37n	missense	196	12.50	28	SNP	1.000	A
NLRP10	338322	genome.wustl.edu	37	11	7982712	7982712	+	Silent	SNP	A	A	T			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr11:7982712A>T	ENST00000328600.2	-	2	608	c.447T>A	c.(445-447)tcT>tcA	p.S149S		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	149					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCACCGTGACAGACTCCAGCT	0.582																																						dbGAP											0													54.0	54.0	54.0					11																	7982712		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.447T>A	11.37:g.7982712A>T			Q2M3C4|Q6JGT0	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_DAPIN	p.S149	ENST00000328600.2	37	c.447	CCDS7784.1	11																																																																																			NLRP10	-	NULL	ENSG00000182261		0.582	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP10	HGNC	protein_coding	OTTHUMT00000385705.1	117	0.00	0	A	NM_176821		7982712	7982712	-1	no_errors	ENST00000328600	ensembl	human	known	69_37n	silent	51	30.14	22	SNP	0.032	T
NRG3	10718	genome.wustl.edu	37	10	84744963	84744963	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr10:84744963G>C	ENST00000404547.1	+	10	1765	c.1765G>C	c.(1765-1767)Ggc>Cgc	p.G589R	NRG3_ENST00000404576.2_Missense_Mutation_p.G369R|NRG3_ENST00000545131.1_Missense_Mutation_p.G215R|NRG3_ENST00000372142.2_Missense_Mutation_p.G368R|NRG3_ENST00000556918.1_Missense_Mutation_p.G395R|NRG3_ENST00000537893.1_Missense_Mutation_p.G215R|NRG3_ENST00000372141.2_Missense_Mutation_p.G565R			P56975	NRG3_HUMAN	neuregulin 3	589					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GGACCTGGTGGGCTATTCATC	0.443																																						dbGAP											0													134.0	147.0	143.0					10																	84744963		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1765G>C	10.37:g.84744963G>C	ENSP00000384796:p.Gly589Arg		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	pfscan_EG-like_dom	p.G589R	ENST00000404547.1	37	c.1765	CCDS31233.1	10	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911316	0.52439	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.58060	0.99;0.95;0.98;0.36;0.93;0.47;0.47	5.95	5.05	0.67936	.	0.077860	0.53938	N	0.000050	T	0.66597	0.2805	L	0.53249	1.67	0.47621	D	0.999471	P;D;P;D	0.76494	0.859;0.998;0.736;0.999	B;D;B;D	0.74023	0.435;0.972;0.204;0.982	T	0.69599	-0.5102	10	0.87932	D	0	-17.7898	12.6987	0.57018	0.079:0.0:0.921:0.0	.	564;589;368;565	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	R	565;589;564;368;369;395;215;215	ENSP00000361214:G565R;ENSP00000384796:G589R;ENSP00000361215:G368R;ENSP00000385804:G369R;ENSP00000451376:G395R;ENSP00000441201:G215R;ENSP00000440377:G215R	ENSP00000361214:G565R	G	+	1	0	NRG3	84734943	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	3.098000	0.50259	1.522000	0.49001	0.650000	0.86243	GGC	NRG3	-	NULL	ENSG00000185737		0.443	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	HGNC	protein_coding	OTTHUMT00000412262.1	454	0.00	0	G	XM_166086		84744963	84744963	+1	no_errors	ENST00000404547	ensembl	human	known	69_37n	missense	217	27.91	84	SNP	1.000	C
NRXN2	9379	genome.wustl.edu	37	11	64417968	64417968	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr11:64417968G>C	ENST00000377551.1	-	14	3272	c.3061C>G	c.(3061-3063)Cgc>Ggc	p.R1021G	NRXN2_ENST00000265459.6_Missense_Mutation_p.R1021G|NRXN2_ENST00000409571.1_Missense_Mutation_p.R1014G|NRXN2_ENST00000377559.3_Missense_Mutation_p.R981G|AP001092.4_ENST00000433606.1_RNA			Q9P2S2	NRX2A_HUMAN	neurexin 2	1021	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GTGACAGTGCGGGAGTCAATC	0.597																																						dbGAP											0													281.0	222.0	242.0					11																	64417968		2201	4297	6498	-	-	-	SO:0001583	missense	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3061C>G	11.37:g.64417968G>C	ENSP00000366774:p.Arg1021Gly		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.R1021G	ENST00000377551.1	37	c.3061	CCDS8077.1	11	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346551	0.61073	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	4.17	4.17	0.49024	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.44097	U	0.000496	T	0.78910	0.4358	L	0.28274	0.84	0.46981	D	0.999278	D;P;D	0.76494	0.987;0.909;0.999	D;P;D	0.85130	0.914;0.635;0.997	T	0.79446	-0.1800	10	0.59425	D	0.04	.	9.5753	0.39454	0.0:0.0:0.7908:0.2092	.	981;1021;767	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	G	1021;981;1021;981;1014	ENSP00000366774:R1021G;ENSP00000366782:R981G;ENSP00000265459:R1021G;ENSP00000386416:R1014G	ENSP00000265459:R1021G	R	-	1	0	NRXN2	64174544	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.206000	0.58473	2.314000	0.78098	0.655000	0.94253	CGC	NRXN2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000110076		0.597	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	76	0.00	0	G	NM_015080		64417968	64417968	-1	no_errors	ENST00000265459	ensembl	human	known	69_37n	missense	95	15.18	17	SNP	1.000	C
NYNRIN	57523	genome.wustl.edu	37	14	24877941	24877941	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr14:24877941A>T	ENST00000382554.3	+	4	1259	c.941A>T	c.(940-942)aAc>aTc	p.N314I		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	314					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GACTCCACGAACCACACACAA	0.547																																						dbGAP											0													53.0	62.0	59.0					14																	24877941		2152	4255	6407	-	-	-	SO:0001583	missense	0			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.941A>T	14.37:g.24877941A>T	ENSP00000371994:p.Asn314Ile		Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.N314I	ENST00000382554.3	37	c.941	CCDS45090.1	14	.	.	.	.	.	.	.	.	.	.	A	2.539	-0.306768	0.05458	.	.	ENSG00000205978	ENST00000382554	T	0.19806	2.12	4.89	1.19	0.21007	.	20.045400	0.00166	N	0.000000	T	0.15003	0.0362	N	0.24115	0.695	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.18587	-1.0332	10	0.36615	T	0.2	.	3.2997	0.06979	0.6438:0.0:0.1867:0.1695	.	314	Q9P2P1	NYNRI_HUMAN	I	314	ENSP00000371994:N314I	ENSP00000371994:N314I	N	+	2	0	NYNRIN	23947781	0.000000	0.05858	0.002000	0.10522	0.156000	0.22039	0.135000	0.15952	0.036000	0.15547	-0.264000	0.10439	AAC	NYNRIN	-	NULL	ENSG00000205978		0.547	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	19	0.00	0	A			24877941	24877941	+1	no_errors	ENST00000382554	ensembl	human	known	69_37n	missense	39	19.61	10	SNP	0.002	T
NRXN3	9369	genome.wustl.edu	37	14	79111656	79111656	+	5'UTR	SNP	G	G	T			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr14:79111656G>T	ENST00000554719.1	+	0	323				NRXN3_ENST00000335750.5_5'UTR	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3						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)			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)		CGGTCTCCTTGGTCATTAACC	0.557																																						dbGAP											0													44.0	38.0	40.0					14																	79111656		876	1991	2867	-	-	-	SO:0001623	5_prime_UTR_variant	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.-169G>T	14.37:g.79111656G>T			A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.L315F	ENST00000554719.1	37	c.945	CCDS9870.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.64|17.64	3.439366|3.439366	0.63067|0.63067	.|.	.|.	ENSG00000021645|ENSG00000021645	ENST00000553363|ENST00000330071;ENST00000332068	.|.	.|.	.|.	6.03|6.03	5.04|5.04	0.67666|0.67666	.|Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.|.	.|.	.|.	.|.	T|T	0.70798|0.70798	0.3265|0.3265	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.68943	.|0.961	T|T	0.70353|0.70353	-0.4895|-0.4895	4|6	.|.	.|.	.|.	.|.	10.2035|10.2035	0.43099|0.43099	0.1715:0.0:0.8285:0.0|0.1715:0.0:0.8285:0.0	.|.	.|317	.|Q9Y4C0	.|NRX3A_HUMAN	C|F	82|317;315	.|.	.|.	G|L	+|+	1|3	0|2	NRXN3|NRXN3	78181409|78181409	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.493000|1.493000	0.35605|0.35605	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GGT|TTG	NRXN3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000021645		0.557	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413787.1	101	0.00	0	G	NM_001105250		79111656	79111656	+1	no_errors	ENST00000554738	ensembl	human	known	69_37n	missense	83	20.95	22	SNP	1.000	T
OCLN	100506658	genome.wustl.edu	37	5	68809915	68809916	+	Frame_Shift_Ins	INS	-	-	C	rs373344533		TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr5:68809915_68809916insC	ENST00000355237.2	+	4	1306_1307	c.870_871insC	c.(871-873)cccfs	p.P291fs	OCLN_ENST00000538151.1_Frame_Shift_Ins_p.P40fs|OCLN_ENST00000396442.2_Frame_Shift_Ins_p.P291fs|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000380766.2_Intron	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	291					apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		ATGATGAGCAGCCCCCCAATGT	0.347																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.876dupC	5.37:g.68809921_68809921dupC	ENSP00000347379:p.Pro291fs		B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Frame_Shift_Ins	INS	pfam_Occludin_RNApol2_elong_fac_ELL,pfam_MARVEL-like_dom,pirsf_Occludin,prints_Occludin	p.N292fs	ENST00000355237.2	37	c.870_871	CCDS4006.1	5																																																																																			OCLN	-	pirsf_Occludin	ENSG00000197822		0.347	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCLN	HGNC	protein_coding	OTTHUMT00000216794.1	31	0.00	0	-	NM_002538		68809915	68809916	+1	no_errors	ENST00000355237	ensembl	human	known	69_37n	frame_shift_ins	17	10.53	2	INS	0.952:0.963	C
OR10A2	341276	genome.wustl.edu	37	11	6891464	6891464	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr11:6891464A>C	ENST00000307322.4	+	1	541	c.479A>C	c.(478-480)aAg>aCg	p.K160T		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGCACCAACAAGGTGAACCAC	0.542																																						dbGAP											0													146.0	128.0	134.0					11																	6891464		2201	4296	6497	-	-	-	SO:0001583	missense	0			BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.479A>C	11.37:g.6891464A>C	ENSP00000303862:p.Lys160Thr		B2RNL9|Q6IFG9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.K160T	ENST00000307322.4	37	c.479	CCDS31415.1	11	.	.	.	.	.	.	.	.	.	.	a	5.098	0.203775	0.09704	.	.	ENSG00000170790	ENST00000307322	T	0.00076	8.76	4.14	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.341047	0.25651	N	0.029202	T	0.00073	0.0002	N	0.04275	-0.24	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.11108	-1.0601	10	0.32370	T	0.25	.	3.7705	0.08640	0.7086:0.0:0.104:0.1874	.	160	Q9H208	O10A2_HUMAN	T	160	ENSP00000303862:K160T	ENSP00000303862:K160T	K	+	2	0	OR10A2	6848040	0.000000	0.05858	0.979000	0.43373	0.974000	0.67602	-0.018000	0.12568	0.740000	0.32651	0.529000	0.55759	AAG	OR10A2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000170790		0.542	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A2	HGNC	protein_coding	OTTHUMT00000385984.1	322	0.00	0	A	NM_001004460		6891464	6891464	+1	no_errors	ENST00000307322	ensembl	human	known	69_37n	missense	220	24.40	71	SNP	0.023	C
OR12D3	81797	genome.wustl.edu	37	6	29342676	29342676	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr6:29342676T>A	ENST00000396806.3	-	1	392	c.389A>T	c.(388-390)tAc>tTc	p.Y130F	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						GATGACAGTGTAGCGAAGAGG	0.498																																						dbGAP											0													58.0	59.0	58.0					6																	29342676		1510	2709	4219	-	-	-	SO:0001583	missense	0				CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"""GPCR / Class A : Olfactory receptors"""	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.389A>T	6.37:g.29342676T>A	ENSP00000380023:p.Tyr130Phe		A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Y130F	ENST00000396806.3	37	c.389	CCDS4658.1	6	.	.	.	.	.	.	.	.	.	.	T	15.33	2.802320	0.50315	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.01981	4.52	4.18	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.15219	0.0367	H	0.98446	4.235	0.34071	D	0.658504	D	0.89917	1.0	D	0.91635	0.999	T	0.40701	-0.9549	9	0.87932	D	0	-12.1292	13.0217	0.58791	0.0:0.0:0.0:1.0	.	130	Q9UGF7	O12D3_HUMAN	F	130	ENSP00000380023:Y130F	ENSP00000366348:Y130F	Y	-	2	0	OR12D3	29450655	1.000000	0.71417	0.022000	0.16811	0.016000	0.09150	7.227000	0.78070	1.738000	0.51689	0.164000	0.16699	TAC	OR12D3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000112462		0.498	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR12D3	HGNC	protein_coding	OTTHUMT00000076056.3	225	0.00	0	T			29342676	29342676	-1	no_errors	ENST00000377143	ensembl	human	known	69_37n	missense	196	32.65	96	SNP	0.981	A
OR2G3	81469	genome.wustl.edu	37	1	247768952	247768952	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr1:247768952G>T	ENST00000320002.2	+	1	97	c.65G>T	c.(64-66)cGt>cTt	p.R22L	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GACCACCCTCGTCTGGAGGCT	0.493																																						dbGAP											0													178.0	184.0	182.0					1																	247768952		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.65G>T	1.37:g.247768952G>T	ENSP00000326301:p.Arg22Leu		B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R22L	ENST00000320002.2	37	c.65	CCDS31093.1	1	.	.	.	.	.	.	.	.	.	.	G	9.470	1.095277	0.20471	.	.	ENSG00000177476	ENST00000320002	T	0.00438	7.42	3.64	-5.33	0.02713	.	0.882556	0.09307	U	0.820152	T	0.00328	0.0010	L	0.46157	1.445	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.18777	-1.0326	10	0.38643	T	0.18	.	10.8545	0.46792	0.8277:0.0:0.1723:0.0	.	22	Q8NGZ4	OR2G3_HUMAN	L	22	ENSP00000326301:R22L	ENSP00000326301:R22L	R	+	2	0	OR2G3	245835575	0.000000	0.05858	0.112000	0.21494	0.862000	0.49288	-0.567000	0.05916	-1.195000	0.02680	-0.467000	0.05162	CGT	OR2G3	-	NULL	ENSG00000177476		0.493	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G3	HGNC	protein_coding	OTTHUMT00000097624.1	433	0.00	0	G			247768952	247768952	+1	no_errors	ENST00000320002	ensembl	human	known	69_37n	missense	528	23.42	163	SNP	0.000	T
OR2T10	127069	genome.wustl.edu	37	1	248756770	248756770	+	Silent	SNP	C	C	T			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr1:248756770C>T	ENST00000330500.2	-	1	330	c.300G>A	c.(298-300)caG>caA	p.Q100Q	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	100						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)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			AGAAGTACATCTGGGTGCCAC	0.527																																						dbGAP											0													66.0	76.0	73.0					1																	248756770		2045	4236	6281	-	-	-	SO:0001819	synonymous_variant	0				CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.300G>A	1.37:g.248756770C>T			B2RNK7	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.Q100	ENST00000330500.2	37	c.300	CCDS31121.1	1																																																																																			OR2T10	-	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000184022		0.527	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T10	HGNC	protein_coding	OTTHUMT00000097139.1	155	0.00	0	C	NM_001004693		248756770	248756770	-1	no_errors	ENST00000330500	ensembl	human	known	69_37n	silent	298	11.83	40	SNP	0.294	T
OVCH1	341350	genome.wustl.edu	37	12	29629184	29629184	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr12:29629184C>G	ENST00000318184.5	-	13	1425	c.1426G>C	c.(1426-1428)Gat>Cat	p.D476H	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	476	CUB 2. {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)					ACAACAGCATCATAAATACAG	0.378																																						dbGAP											0													188.0	179.0	181.0					12																	29629184		1865	4109	5974	-	-	-	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.1426G>C	12.37:g.29629184C>G	ENSP00000326708:p.Asp476His			Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,prints_Peptidase_S1A,pfscan_CUB,pfscan_Peptidase_S1_S6	p.D476H	ENST00000318184.5	37	c.1426		12	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435611	0.25813	.	.	ENSG00000187950	ENST00000318184	T	0.35236	1.32	2.59	1.7	0.24286	CUB (5);	.	.	.	.	T	0.58133	0.2101	H	0.95402	3.665	0.09310	N	1	D	0.53885	0.963	P	0.52386	0.697	T	0.52155	-0.8613	9	0.59425	D	0.04	.	6.8133	0.23817	0.0:0.7529:0.0:0.2471	.	476	Q7RTY7	OVCH1_HUMAN	H	476	ENSP00000326708:D476H	ENSP00000326708:D476H	D	-	1	0	OVCH1	29520451	0.037000	0.19845	0.056000	0.19401	0.018000	0.09664	0.254000	0.18314	0.669000	0.31146	-0.133000	0.14855	GAT	OVCH1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000187950		0.378	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	OVCH1	HGNC	protein_coding	OTTHUMT00000395997.2	498	0.00	0	C	NM_183378		29629184	29629184	-1	no_errors	ENST00000318184	ensembl	human	known	69_37n	missense	409	13.53	64	SNP	0.203	G
OR6C6	283365	genome.wustl.edu	37	12	55688554	55688554	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr12:55688554A>T	ENST00000358433.2	-	1	462	c.463T>A	c.(463-465)Ttt>Att	p.F155I		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	155						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)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AATGGGGGAAATATGATTAAG	0.423																																						dbGAP											0													82.0	77.0	79.0					12																	55688554		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.463T>A	12.37:g.55688554A>T	ENSP00000351211:p.Phe155Ile			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F155I	ENST00000358433.2	37	c.463	CCDS31817.1	12	.	.	.	.	.	.	.	.	.	.	-	11.83	1.754348	0.31046	.	.	ENSG00000188324	ENST00000358433	T	0.00042	8.84	4.24	1.92	0.25849	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000059	T	0.00144	0.0004	N	0.15975	0.35	0.09310	N	1	P	0.49559	0.925	P	0.55161	0.77	T	0.57365	-0.7824	10	0.28530	T	0.3	.	8.6264	0.33892	0.8255:0.0:0.1745:0.0	.	155	A6NF89	OR6C6_HUMAN	I	155	ENSP00000351211:F155I	ENSP00000351211:F155I	F	-	1	0	OR6C6	53974821	0.000000	0.05858	0.080000	0.20451	0.231000	0.25187	-1.184000	0.03076	0.785000	0.33685	0.473000	0.43528	TTT	OR6C6	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000188324		0.423	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C6	HGNC	protein_coding	OTTHUMT00000398151.1	293	0.00	0	A			55688554	55688554	-1	no_errors	ENST00000358433	ensembl	human	known	69_37n	missense	268	18.56	62	SNP	0.001	T
PADI3	51702	genome.wustl.edu	37	1	17606863	17606863	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr1:17606863C>T	ENST00000375460.3	+	14	1614	c.1574C>T	c.(1573-1575)aCc>aTc	p.T525I	MIR3972_ENST00000582732.1_RNA	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	525					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CAGGTCAAGACCATCTCCATC	0.507																																						dbGAP											0													153.0	137.0	143.0					1																	17606863		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1574C>T	1.37:g.17606863C>T	ENSP00000364609:p.Thr525Ile		Q58EY7|Q70SX5	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.T525I	ENST00000375460.3	37	c.1574	CCDS179.1	1	.	.	.	.	.	.	.	.	.	.	C	6.871	0.530083	0.13127	.	.	ENSG00000142619	ENST00000375460	T	0.03330	3.97	4.43	4.43	0.53597	Protein-arginine deiminase, C-terminal (1);	0.505565	0.19895	N	0.103660	T	0.05777	0.0151	L	0.52573	1.65	0.32044	N	0.597807	P	0.35821	0.523	B	0.38428	0.273	T	0.06991	-1.0796	10	0.33141	T	0.24	-26.3164	12.898	0.58109	0.0:1.0:0.0:0.0	.	525	Q9ULW8	PADI3_HUMAN	I	525	ENSP00000364609:T525I	ENSP00000364609:T525I	T	+	2	0	PADI3	17479450	0.213000	0.23551	0.130000	0.21974	0.053000	0.15095	3.761000	0.55242	2.195000	0.70347	0.467000	0.42956	ACC	PADI3	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub	ENSG00000142619		0.507	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI3	HGNC	protein_coding	OTTHUMT00000006805.1	85	0.00	0	C			17606863	17606863	+1	no_errors	ENST00000375460	ensembl	human	known	69_37n	missense	56	18.57	13	SNP	0.825	T
PCDHA8	56140	genome.wustl.edu	37	5	140222344	140222344	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr5:140222344C>T	ENST00000531613.1	+	1	1438	c.1438C>T	c.(1438-1440)Cga>Tga	p.R480*	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Nonsense_Mutation_p.R480*|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	480	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGTCTGCGCGAGACGCGGA	0.652																																						dbGAP											0													44.0	49.0	47.0					5																	140222344		2195	4260	6455	-	-	-	SO:0001587	stop_gained	0			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1438C>T	5.37:g.140222344C>T	ENSP00000434655:p.Arg480*		B9EGT7|O75281	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R480*	ENST00000531613.1	37	c.1438	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651407	0.29336	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	.	.	.	3.72	0.613	0.17597	.	1.274150	0.06310	U	0.702544	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	1.1905	0.01864	0.1658:0.3122:0.3082:0.2137	.	.	.	.	X	480	.	ENSP00000367363:R480X	R	+	1	2	PCDHA8	140202528	0.000000	0.05858	0.047000	0.18901	0.022000	0.10575	-3.119000	0.00596	0.150000	0.19136	-1.210000	0.01631	CGA	PCDHA8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204962		0.652	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2	9	0.00	0	C	NM_018911		140222344	140222344	+1	no_errors	ENST00000531613	ensembl	human	known	69_37n	nonsense	15	28.57	6	SNP	0.000	T
PCDHA11	56138	genome.wustl.edu	37	5	140248908	140248908	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr5:140248908C>A	ENST00000398640.2	+	1	220	c.220C>A	c.(220-222)Ctt>Att	p.L74I	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	74	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATGGGGACCTTCTGGAGGT	0.622																																						dbGAP											0													110.0	125.0	120.0					5																	140248908		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.220C>A	5.37:g.140248908C>A	ENSP00000381636:p.Leu74Ile		B2RN58|O75279	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L74I	ENST00000398640.2	37	c.220	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740322	0.69304	.	.	ENSG00000249158	ENST00000398640	T	0.28454	1.61	5.59	3.51	0.40186	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.47655	0.1457	M	0.82823	2.61	0.21020	N	0.999805	P;P	0.46578	0.88;0.868	P;P	0.58077	0.742;0.832	T	0.47873	-0.9083	9	0.66056	D	0.02	.	1.8844	0.03235	0.303:0.4326:0.0:0.2644	.	74;74	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	I	74	ENSP00000381636:L74I	ENSP00000381636:L74I	L	+	1	0	PCDHA11	140229092	0.000000	0.05858	1.000000	0.80357	0.978000	0.69477	0.159000	0.16442	1.317000	0.45149	0.655000	0.94253	CTT	PCDHA11	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000249158		0.622	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	47	0.00	0	C	NM_018902		140248908	140248908	+1	no_errors	ENST00000398640	ensembl	human	known	69_37n	missense	28	36.36	16	SNP	0.993	A
PCDHB11	56125	genome.wustl.edu	37	5	140580947	140580947	+	Missense_Mutation	SNP	A	A	G	rs145587367	byFrequency	TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr5:140580947A>G	ENST00000354757.3	+	1	1600	c.1600A>G	c.(1600-1602)Aca>Gca	p.T534A	PCDHB11_ENST00000536699.1_Missense_Mutation_p.T169A	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	534	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTGGGCGCCACAGACCGCGG	0.667																																						dbGAP											0													47.0	62.0	57.0					5																	140580947		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1600A>G	5.37:g.140580947A>G	ENSP00000346802:p.Thr534Ala		B4DSF7|Q2M223	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T534A	ENST00000354757.3	37	c.1600	CCDS4253.1	5	.	.	.	.	.	.	.	.	.	.	a	6.667	0.491696	0.12702	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.02709	4.19;4.19	2.51	-4.7	0.03288	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.02304	0.0071	L	0.46741	1.465	0.09310	N	1	B	0.06786	0.001	B	0.17098	0.017	T	0.47849	-0.9085	9	0.31617	T	0.26	.	0.284	0.00249	0.3909:0.1428:0.1874:0.2789	.	534	Q9Y5F2	PCDBB_HUMAN	A	169;534	ENSP00000440344:T169A;ENSP00000346802:T534A	ENSP00000346802:T534A	T	+	1	0	PCDHB11	140561131	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-7.407000	0.00037	-1.127000	0.02925	-0.993000	0.02533	ACA	PCDHB11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000197479		0.667	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	43	0.00	0	A	NM_018931		140580947	140580947	+1	no_errors	ENST00000354757	ensembl	human	known	69_37n	missense	40	25.93	14	SNP	0.000	G
PCDHGA12	26025	genome.wustl.edu	37	5	140812092	140812092	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr5:140812092C>A	ENST00000252085.3	+	1	1908	c.1766C>A	c.(1765-1767)aCc>aAc	p.T589N	PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	589	Cadherin 6. {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)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCTGGTGACCAAGGTGGTG	0.677																																						dbGAP											0													60.0	72.0	68.0					5																	140812092		2202	4297	6499	-	-	-	SO:0001583	missense	0			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1766C>A	5.37:g.140812092C>A	ENSP00000252085:p.Thr589Asn		O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T589N	ENST00000252085.3	37	c.1766	CCDS4260.1	5	.	.	.	.	.	.	.	.	.	.	c	18.76	3.691918	0.68271	.	.	ENSG00000253159	ENST00000252085	T	0.52526	0.66	4.89	4.89	0.63831	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.79233	0.4411	H	0.95079	3.62	0.27280	N	0.958127	D;D	0.89917	1.0;0.998	D;D	0.81914	0.995;0.993	T	0.76361	-0.2987	9	0.87932	D	0	.	18.4792	0.90806	0.0:1.0:0.0:0.0	.	589;589	O60330-2;O60330	.;PCDGC_HUMAN	N	589	ENSP00000252085:T589N	ENSP00000252085:T589N	T	+	2	0	PCDHGA12	140792276	0.061000	0.20836	1.000000	0.80357	0.978000	0.69477	2.549000	0.45803	2.432000	0.82394	0.556000	0.70494	ACC	PCDHGA12	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000253159		0.677	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA12	HGNC	protein_coding	OTTHUMT00000251806.2	59	0.00	0	C	NM_003735		140812092	140812092	+1	no_errors	ENST00000252085	ensembl	human	known	69_37n	missense	66	21.43	18	SNP	1.000	A
PNPO	55163	genome.wustl.edu	37	17	46022006	46022006	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr17:46022006G>T	ENST00000225573.4	+	3	393	c.288G>T	c.(286-288)atG>atT	p.M96I	PNPO_ENST00000544840.1_Missense_Mutation_p.M96I|RP11-6N17.6_ENST00000582142.1_RNA|RP11-6N17.9_ENST00000582262.1_RNA|PNPO_ENST00000434554.2_Missense_Mutation_p.M96I|PNPO_ENST00000534893.1_Start_Codon_SNP_p.M1I|RP11-6N17.6_ENST00000580372.1_RNA	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	96					pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	FMN binding (GO:0010181)|pyridoxamine-phosphate oxidase activity (GO:0004733)			endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5						CTGCTCGCATGTTGCTGCTGA	0.493																																						dbGAP											0													203.0	197.0	199.0					17																	46022006		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF468030	CCDS11522.1	17q21.32	2008-11-27	2006-07-12			ENSG00000108439	1.4.3.5		30260	protein-coding gene	gene with protein product		603287	"""pyridoxine 5'-phosphate oxidase"""			9601034, 15182361	Standard	NM_018129		Approved	PDXPO	uc002imo.3	Q9NVS9		ENST00000225573.4:c.288G>T	17.37:g.46022006G>T	ENSP00000225573:p.Met96Ile		B4E0V0|B4E152|B4E1D7|D3DTT9	Missense_Mutation	SNP	pfam_Pyridox_Oxase_FMN-bd,pfam_Pyridoxamine_oxidase_dimer_C,superfamily_Split_barrel_FMN-bd-related,tigrfam_Pyridox_Oxase	p.M96I	ENST00000225573.4	37	c.288	CCDS11522.1	17	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646446	0.47258	.	.	ENSG00000108439	ENST00000225573;ENST00000434554;ENST00000544840;ENST00000534893	T;T;T;T	0.72282	-0.61;-0.61;-0.61;-0.64	5.22	5.22	0.72569	Pyridoxamine 5&apos (1);FMN-binding split barrel-related (1);-phosphate oxidase-like, FMN-binding domain (1);FMN-binding split barrel (1);	0.000000	0.85682	D	0.000000	T	0.52581	0.1743	N	0.17723	0.515	0.80722	D	1	P;B;B	0.36633	0.562;0.128;0.171	B;B;B	0.34242	0.178;0.033;0.061	T	0.56294	-0.8003	10	0.02654	T	1	-6.6489	17.5368	0.87834	0.0:0.0:1.0:0.0	.	96;96;96	B4E152;B4E1D7;Q9NVS9	.;.;PNPO_HUMAN	I	96;96;96;1	ENSP00000225573:M96I;ENSP00000399960:M96I;ENSP00000446182:M96I;ENSP00000437480:M1I	ENSP00000225573:M96I	M	+	3	0	PNPO	43377005	1.000000	0.71417	0.998000	0.56505	0.702000	0.40608	9.274000	0.95731	2.443000	0.82685	0.655000	0.94253	ATG	PNPO	-	pfam_Pyridox_Oxase_FMN-bd,superfamily_Split_barrel_FMN-bd-related,tigrfam_Pyridox_Oxase	ENSG00000108439		0.493	PNPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPO	HGNC	protein_coding	OTTHUMT00000441407.1	141	0.00	0	G	NM_018129		46022006	46022006	+1	no_errors	ENST00000225573	ensembl	human	known	69_37n	missense	333	18.73	77	SNP	1.000	T
PPM1D	8493	genome.wustl.edu	37	17	58734121	58734121	+	Silent	SNP	G	G	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr17:58734121G>C	ENST00000305921.3	+	5	1411	c.1179G>C	c.(1177-1179)ctG>ctC	p.L393L		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	393					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			AGTTATACCTGAACCTGACTG	0.433																																						dbGAP											0													131.0	120.0	124.0					17																	58734121		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1179G>C	17.37:g.58734121G>C			Q53XP4|Q6P991|Q8IVR6	Silent	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.L393	ENST00000305921.3	37	c.1179	CCDS11625.1	17																																																																																			PPM1D	-	NULL	ENSG00000170836		0.433	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1D	HGNC	protein_coding	OTTHUMT00000449474.1	173	0.00	0	G	NM_003620		58734121	58734121	+1	no_errors	ENST00000305921	ensembl	human	known	69_37n	silent	362	14.62	62	SNP	0.990	C
PTPRE	5791	genome.wustl.edu	37	10	129871639	129871639	+	Silent	SNP	G	G	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr10:129871639G>A	ENST00000254667.3	+	17	1782	c.1503G>A	c.(1501-1503)ggG>ggA	p.G501G	PTPRE_ENST00000419012.2_Silent_p.G501G|PTPRE_ENST00000306042.5_Silent_p.G443G	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	501	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	CCACCCAGGGGCCACTGGCAC	0.547																																					Colon(52;977 1184 20575 41685)	dbGAP											0													126.0	112.0	117.0					10																	129871639		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1503G>A	10.37:g.129871639G>A			Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Silent	SNP	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.G501	ENST00000254667.3	37	c.1503	CCDS7657.1	10																																																																																			PTPRE	-	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000132334		0.547	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRE	HGNC	protein_coding	OTTHUMT00000050990.1	66	0.00	0	G			129871639	129871639	+1	no_errors	ENST00000254667	ensembl	human	known	69_37n	silent	61	26.51	22	SNP	0.774	A
PXMP4	11264	genome.wustl.edu	37	20	32302531	32302531	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr20:32302531T>C	ENST00000409299.3	-	2	217	c.125A>G	c.(124-126)aAa>aGa	p.K42R	PXMP4_ENST00000217398.3_Missense_Mutation_p.K42R|PXMP4_ENST00000344022.3_Missense_Mutation_p.K42R	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	42						integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						GGCCCGGATTTTGGCTCCATA	0.512																																						dbGAP											0													141.0	130.0	134.0					20																	32302531		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF072864	CCDS13225.1, CCDS13226.1	20q11.22	2008-07-02	2002-08-29		ENSG00000101417	ENSG00000101417			15920	protein-coding gene	gene with protein product	"""24 kDa peroxisomal intrinsic membrane protein"""		"""peroxisomal membrane protein 4 (24kD)"""			10366717	Standard	NM_183397		Approved	PMP24	uc002wzv.3	Q9Y6I8	OTTHUMG00000032273	ENST00000409299.3:c.125A>G	20.37:g.32302531T>C	ENSP00000386385:p.Lys42Arg		A2A2I7|Q9H0T4	Missense_Mutation	SNP	pirsf_Pmp4	p.K42R	ENST00000409299.3	37	c.125	CCDS13225.1	20	.	.	.	.	.	.	.	.	.	.	T	25.7	4.667646	0.88348	.	.	ENSG00000101417	ENST00000409299;ENST00000344022;ENST00000217398	T	0.29917	1.55	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.53286	0.1787	M	0.73372	2.23	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.906	D;D;P	0.87578	0.998;0.997;0.67	T	0.50224	-0.8853	10	0.27082	T	0.32	-10.2827	14.8622	0.70389	0.0:0.0:0.0:1.0	.	42;42;42	B4DWH1;A2A2I7;Q9Y6I8	.;.;PXMP4_HUMAN	R	42	ENSP00000386385:K42R	ENSP00000217398:K42R	K	-	2	0	PXMP4	31766192	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.943000	0.87716	1.996000	0.58369	0.368000	0.22195	AAA	PXMP4	-	pirsf_Pmp4	ENSG00000101417		0.512	PXMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXMP4	HGNC	protein_coding	OTTHUMT00000078739.2	69	0.00	0	T	NM_007238		32302531	32302531	-1	no_errors	ENST00000409299	ensembl	human	known	69_37n	missense	254	15.28	46	SNP	1.000	C
REL	5966	genome.wustl.edu	37	2	61145426	61145426	+	Silent	SNP	G	G	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr2:61145426G>A	ENST00000295025.8	+	6	956	c.636G>A	c.(634-636)caG>caA	p.Q212Q	REL_ENST00000394479.3_Silent_p.Q212Q	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	212	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			ACAAAGTTCAGAAAGGTATTT	0.289			A		Hodgkin Lymphoma																																	dbGAP		Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	0													40.0	41.0	41.0					2																	61145426		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.636G>A	2.37:g.61145426G>A			Q17RU2|Q2PNZ7|Q6LDY0	Silent	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.Q212	ENST00000295025.8	37	c.636	CCDS1864.1	2																																																																																			REL	-	superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NF_Rel_dor	ENSG00000162924		0.289	REL-001	KNOWN	basic|CCDS	protein_coding	REL	HGNC	protein_coding	OTTHUMT00000251576.3	198	0.00	0	G	NM_002908		61145426	61145426	+1	no_errors	ENST00000295025	ensembl	human	known	69_37n	silent	239	18.71	55	SNP	1.000	A
RGL2	5863	genome.wustl.edu	37	6	33263964	33263965	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr6:33263964_33263965insC	ENST00000497454.1	-	6	1103_1104	c.608_609insG	c.(607-609)ggcfs	p.G203fs	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Frame_Shift_Ins_p.G121fs	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	203	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GGTCAGCGCTGCCCCCCCCAAC	0.653																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.609dupG	6.37:g.33263972_33263972dupC	ENSP00000420211:p.Gly203fs		B4DG72|Q5STK0|Q9Y3F3	Frame_Shift_Ins	INS	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S204fs	ENST00000497454.1	37	c.609_608	CCDS4774.1	6																																																																																			RGL2	-	superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000237441		0.653	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL2	HGNC	protein_coding	OTTHUMT00000076098.2	19	0.00	0	-			33263964	33263965	-1	no_errors	ENST00000497454	ensembl	human	known	69_37n	frame_shift_ins	63	13.70	10	INS	1.000:1.000	C
RGPD2	729857	genome.wustl.edu	37	2	88082418	88082418	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr2:88082418C>A	ENST00000398146.3	-	20	4347	c.4125G>T	c.(4123-4125)aaG>aaT	p.K1375N	RGPD2_ENST00000420840.2_Missense_Mutation_p.K1367N|RGPD2_ENST00000494592.1_5'Flank|RGPD2_ENST00000327544.6_Missense_Mutation_p.K632N			P0DJD1	RGPD2_HUMAN	RANBP2-like and GRIP domain containing 2	1375	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|pancreas(1)	2						TCTGTAAAATCTTTATATCAC	0.348																																						dbGAP											0													52.0	42.0	45.0					2																	88082418		1394	3057	4451	-	-	-	SO:0001583	missense	0				CCDS42710.1, CCDS42710.2	2p11.2	2013-01-10			ENSG00000185304	ENSG00000185304		"""Tetratricopeptide (TTC) repeat domain containing"""	32415	protein-coding gene	gene with protein product		612705				15710750, 15815621	Standard	NM_001078170		Approved	RGP2, RANBP2L2		P0DJD1	OTTHUMG00000153276	ENST00000398146.3:c.4125G>T	2.37:g.88082418C>A	ENSP00000381214:p.Lys1375Asn		P0C839|Q68DN6|Q6V1X0	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR-1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.K1375N	ENST00000398146.3	37	c.4125	CCDS42710.2	2	.	.	.	.	.	.	.	.	.	.	.	9.701	1.154450	0.21371	.	.	ENSG00000185304	ENST00000398146;ENST00000420840;ENST00000469984;ENST00000327544	T;T;T	0.63255	-0.03;-0.03;-0.03	2.35	1.4	0.22301	.	.	.	.	.	T	0.79741	0.4498	M	0.90870	3.155	0.34147	D	0.667044	D	0.89917	1.0	D	0.97110	1.0	T	0.81818	-0.0758	9	0.87932	D	0	-24.3974	7.2895	0.26358	0.0:0.8485:0.0:0.1515	.	1375	B4DYH0	.	N	1375;1367;286;632	ENSP00000381214:K1375N;ENSP00000413275:K1367N;ENSP00000332727:K632N	ENSP00000332727:K632N	K	-	3	2	RGPD2	87863533	1.000000	0.71417	1.000000	0.80357	0.467000	0.32768	1.575000	0.36493	0.281000	0.22233	0.184000	0.17185	AAG	RGPD2	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	ENSG00000185304		0.348	RGPD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGPD2	HGNC	protein_coding	OTTHUMT00000330534.2	655	0.00	0	C	NM_001078170		88082418	88082418	-1	no_errors	ENST00000398146	ensembl	human	known	69_37n	missense	486	18.04	107	SNP	1.000	A
RYR1	6261	genome.wustl.edu	37	19	38964046	38964047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr19:38964046_38964047insC	ENST00000359596.3	+	28	3795_3796	c.3795_3796insC	c.(3796-3798)cccfs	p.P1266fs	RYR1_ENST00000360985.3_Frame_Shift_Ins_p.P1266fs|RYR1_ENST00000355481.4_Frame_Shift_Ins_p.P1266fs			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1266	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTGTGGACACGCCCCCCTGCCT	0.663																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3801dupC	19.37:g.38964052_38964052dupC	ENSP00000352608:p.Pro1266fs		Q16314|Q16368|Q9NPK1|Q9P1U4	Frame_Shift_Ins	INS	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.C1267fs	ENST00000359596.3	37	c.3795_3796	CCDS33011.1	19																																																																																			RYR1	-	NULL	ENSG00000196218		0.663	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	36	0.00	0	-			38964046	38964047	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	frame_shift_ins	25	10.71	3	INS	0.968:1.000	C
SAMD7	344658	genome.wustl.edu	37	3	169644854	169644854	+	Silent	SNP	T	T	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr3:169644854T>C	ENST00000428432.2	+	6	1193	c.804T>C	c.(802-804)acT>acC	p.T268T	SAMD7_ENST00000335556.3_Silent_p.T268T	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	268										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CTCACACCACTACCCTGAAAG	0.527																																						dbGAP											0													70.0	69.0	69.0					3																	169644854		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.804T>C	3.37:g.169644854T>C				Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.T268	ENST00000428432.2	37	c.804	CCDS3209.1	3																																																																																			SAMD7	-	NULL	ENSG00000187033		0.527	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD7	HGNC	protein_coding	OTTHUMT00000351959.1	201	0.00	0	T	NM_182610		169644854	169644854	+1	no_errors	ENST00000335556	ensembl	human	known	69_37n	silent	176	37.81	107	SNP	0.000	C
SAMD8	142891	genome.wustl.edu	37	10	76928307	76928307	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr10:76928307T>G	ENST00000542569.1	+	4	786	c.683T>G	c.(682-684)cTt>cGt	p.L228R	SAMD8_ENST00000372690.3_Missense_Mutation_p.L291R|SAMD8_ENST00000372687.4_Missense_Mutation_p.L228R	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	228					ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AGGTCAATACTTCTGCGAAGG	0.448																																						dbGAP											0													304.0	287.0	293.0					10																	76928307		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"""Sterile alpha motif (SAM) domain containing"""	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515	ENST00000542569.1:c.683T>G	10.37:g.76928307T>G	ENSP00000438042:p.Leu228Arg		Q5JSC5|Q5JSC8|Q66K52	Missense_Mutation	SNP	pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.L291R	ENST00000542569.1	37	c.872	CCDS53543.1	10	.	.	.	.	.	.	.	.	.	.	T	26.1	4.709650	0.89018	.	.	ENSG00000156671	ENST00000447533;ENST00000372690;ENST00000542569;ENST00000372687	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.97043	0.9034	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70016	0.967;0.959	D	0.97295	0.9927	10	0.54805	T	0.06	-15.876	15.749	0.77969	0.0:0.0:0.0:1.0	.	228;228	Q96LT4-2;Q96LT4	.;SAMD8_HUMAN	R	228;291;228;228	ENSP00000391799:L228R;ENSP00000361775:L291R;ENSP00000438042:L228R;ENSP00000361772:L228R	ENSP00000361772:L228R	L	+	2	0	SAMD8	76598313	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.040000	0.89188	2.120000	0.65058	0.528000	0.53228	CTT	SAMD8	-	NULL	ENSG00000156671		0.448	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD8	HGNC	protein_coding		333	0.00	0	T	NM_144660		76928307	76928307	+1	no_errors	ENST00000372690	ensembl	human	known	69_37n	missense	297	20.53	77	SNP	1.000	G
SAMD9L	219285	genome.wustl.edu	37	7	92763853	92763853	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr7:92763853T>C	ENST00000318238.4	-	5	2648	c.1432A>G	c.(1432-1434)Act>Gct	p.T478A	SAMD9L_ENST00000437805.1_Missense_Mutation_p.T478A|SAMD9L_ENST00000411955.1_Missense_Mutation_p.T478A	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	478					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CACATGTTAGTTGTCTTGTCT	0.413																																						dbGAP											0													98.0	95.0	96.0					7																	92763853		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1432A>G	7.37:g.92763853T>C	ENSP00000326247:p.Thr478Ala		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	superfamily_SAM/pointed,pfscan_SAM	p.T478A	ENST00000318238.4	37	c.1432	CCDS34681.1	7	.	.	.	.	.	.	.	.	.	.	T	0.720	-0.783853	0.02907	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.13307	2.6;2.6;2.6	4.39	-1.69	0.08186	.	1.247540	0.05702	N	0.594221	T	0.10981	0.0268	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.38824	-0.9643	10	0.38643	T	0.18	0.0642	3.7484	0.08556	0.2485:0.2317:0.0:0.5198	.	478	Q8IVG5	SAM9L_HUMAN	A	478	ENSP00000326247:T478A;ENSP00000405760:T478A;ENSP00000408796:T478A	ENSP00000326247:T478A	T	-	1	0	SAMD9L	92601789	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-2.265000	0.01172	-0.076000	0.12775	-0.467000	0.05162	ACT	SAMD9L	-	NULL	ENSG00000177409		0.413	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1	688	0.15	1	T	NM_152703		92763853	92763853	-1	no_errors	ENST00000318238	ensembl	human	known	69_37n	missense	372	22.13	106	SNP	0.000	C
SCN10A	6336	genome.wustl.edu	37	3	38753808	38753808	+	Silent	SNP	G	G	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr3:38753808G>A	ENST00000449082.2	-	22	3932	c.3933C>T	c.(3931-3933)atC>atT	p.I1311I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1311					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CGGTATAGTTGATGCACCTCC	0.473																																						dbGAP											0													146.0	141.0	143.0					3																	38753808		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3933C>T	3.37:g.38753808G>A			A6NDQ1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.I1311	ENST00000449082.2	37	c.3933	CCDS33736.1	3																																																																																			SCN10A	-	pfam_Ion_trans_dom	ENSG00000185313		0.473	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	192	0.00	0	G	NM_006514		38753808	38753808	-1	no_errors	ENST00000449082	ensembl	human	known	69_37n	silent	150	36.82	88	SNP	1.000	A
SERPINE1	5054	genome.wustl.edu	37	7	100773837	100773837	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr7:100773837T>C	ENST00000223095.4	+	3	564	c.407T>C	c.(406-408)tTc>tCc	p.F136S	SERPINE1_ENST00000445463.2_Missense_Mutation_p.F121S	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	136					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	ATGCCCCACTTCTTCAGGCTG	0.537																																						dbGAP											0													238.0	218.0	225.0					7																	100773837		2203	4300	6503	-	-	-	SO:0001583	missense	0			M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.407T>C	7.37:g.100773837T>C	ENSP00000223095:p.Phe136Ser		B7Z4S0|F8WD53	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.F136S	ENST00000223095.4	37	c.407	CCDS5711.1	7	.	.	.	.	.	.	.	.	.	.	T	22.2	4.252769	0.80135	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000441467	D;D	0.83755	-1.76;-1.76	5.44	5.44	0.79542	Serpin domain (3);	0.063724	0.64402	D	0.000004	T	0.80380	0.4612	N	0.13235	0.315	0.41728	D	0.989546	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76168	-0.3058	10	0.14656	T	0.56	.	8.8571	0.35234	0.1669:0.0:0.0:0.833	.	121;136	F8WD53;P05121	.;PAI1_HUMAN	S	136;121;121	ENSP00000223095:F136S;ENSP00000396766:F121S	ENSP00000223095:F136S	F	+	2	0	SERPINE1	100560557	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.201000	0.58439	2.065000	0.61736	0.459000	0.35465	TTC	SERPINE1	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000106366		0.537	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINE1	HGNC	protein_coding	OTTHUMT00000347458.1	324	0.00	0	T	NM_000602		100773837	100773837	+1	no_errors	ENST00000223095	ensembl	human	known	69_37n	missense	288	22.46	84	SNP	1.000	C
SHROOM2	357	genome.wustl.edu	37	X	9905450	9905451	+	Frame_Shift_Ins	INS	-	-	C	rs200823186		TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chrX:9905450_9905451insC	ENST00000380913.3	+	7	3954_3955	c.3864_3865insC	c.(3865-3867)cccfs	p.P1289fs	SHROOM2_ENST00000418909.2_Frame_Shift_Ins_p.P124fs	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1289					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GCACCCAGGTGCCCCCCGAGAA	0.653																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3870dupC	X.37:g.9905456_9905456dupC	ENSP00000370299:p.Pro1289fs		B9EIQ7	Frame_Shift_Ins	INS	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E1290fs	ENST00000380913.3	37	c.3864_3865	CCDS14135.1	X																																																																																			SHROOM2	-	NULL	ENSG00000146950		0.653	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	8	0.00	0	-	NM_001649		9905450	9905451	+1	no_errors	ENST00000380913	ensembl	human	known	69_37n	frame_shift_ins	5	37.50	3	INS	0.000:0.001	C
SIGLEC11	114132	genome.wustl.edu	37	19	50463606	50463606	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr19:50463606A>C	ENST00000447370.2	-	3	623	c.533T>G	c.(532-534)gTg>gGg	p.V178G	CTC-326K19.6_ENST00000451973.1_5'Flank|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.V178G	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	178	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CCAGTTAAACACACAGATGAC	0.582																																						dbGAP											0													20.0	33.0	29.0					19																	50463606		1953	4270	6223	-	-	-	SO:0001583	missense	0			AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.533T>G	19.37:g.50463606A>C	ENSP00000412361:p.Val178Gly			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V178G	ENST00000447370.2	37	c.533	CCDS12790.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.74|17.74	3.464048|3.464048	0.63513|0.63513	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000426971|ENST00000447370;ENST00000458019	.|T	.|0.78924	.|-1.22	3.28|3.28	1.15|1.15	0.20763|0.20763	.|CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.720289	.|0.12489	.|N	.|0.464399	T|T	0.81545|0.81545	0.4845|0.4845	M|M	0.68317|0.68317	2.08|2.08	0.09310|0.09310	N|N	1|1	.|P;P	.|0.52316	.|0.941;0.952	.|P;P	.|0.60541	.|0.808;0.876	T|T	0.67952|0.67952	-0.5537|-0.5537	5|9	.|.	.|.	.|.	.|.	4.4619|4.4619	0.11669|0.11669	0.6982:0.0:0.3018:0.0|0.6982:0.0:0.3018:0.0	.|.	.|178;178	.|Q96RL6-2;Q96RL6	.|.;SIG11_HUMAN	G|G	168|178	.|ENSP00000412361:V178G	.|.	C|V	-|-	1|2	0|0	SIGLEC11|SIGLEC11	55155418|55155418	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.832000|0.832000	0.47134|0.47134	0.758000|0.758000	0.26447|0.26447	0.419000|0.419000	0.25927|0.25927	0.459000|0.459000	0.35465|0.35465	TGT|GTG	SIGLEC11	-	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000161640		0.582	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC11	HGNC	protein_coding	OTTHUMT00000347382.1	39	0.00	0	A	NM_052884		50463606	50463606	-1	no_errors	ENST00000447370	ensembl	human	known	69_37n	missense	37	27.45	14	SNP	0.000	C
SLAMF7	57823	genome.wustl.edu	37	1	160722907	160722907	+	Silent	SNP	C	C	G			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr1:160722907C>G	ENST00000368043.3	+	7	985	c.948C>G	c.(946-948)ccC>ccG	p.P316P	SLAMF7_ENST00000368042.3_Silent_p.P209P|SLAMF7_ENST00000458104.2_Missense_Mutation_p.P135A|SLAMF7_ENST00000458602.2_Silent_p.P169P|SLAMF7_ENST00000444090.2_Missense_Mutation_p.P151A|SLAMF7_ENST00000441662.2_Silent_p.P185P|SLAMF7_ENST00000359331.4_Missense_Mutation_p.P282A	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	316					cell adhesion (GO:0007155)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of natural killer cell activation (GO:0032814)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGGAAAATCCCCACTCACTGC	0.463																																						dbGAP											0													153.0	129.0	137.0					1																	160722907		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB027233	CCDS1209.1, CCDS60321.1, CCDS60322.1, CCDS60323.1, CCDS60324.1, CCDS60325.1, CCDS72956.1, CCDS72957.1	1q23.1-q24.1	2013-01-11			ENSG00000026751	ENSG00000026751		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	21394	protein-coding gene	gene with protein product		606625				11802771, 11220635	Standard	XM_005245386		Approved	CRACC, 19A, CS1, CD319	uc001fwq.3	Q9NQ25	OTTHUMG00000024008	ENST00000368043.3:c.948C>G	1.37:g.160722907C>G			A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	Missense_Mutation	SNP	pfam_Ig_V-set,pfscan_Ig-like	p.P282A	ENST00000368043.3	37	c.844	CCDS1209.1	1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890654	0.33348	.	.	ENSG00000026751	ENST00000444090;ENST00000458104;ENST00000359331	T;T;T	0.37584	1.19;1.66;3.19	3.74	-0.451	0.12214	.	0.864875	0.09808	N	0.753253	T	0.08313	0.0207	.	.	.	0.09310	N	1	B;B;B	0.30914	0.103;0.3;0.16	B;B;B	0.29077	0.085;0.098;0.066	T	0.32455	-0.9906	9	0.31617	T	0.26	-2.8731	6.4691	0.21997	0.0:0.5152:0.0:0.4848	.	135;151;282	B4DVL7;B4DPY3;A8K3U1	.;.;.	A	151;135;282	ENSP00000416592:P151A;ENSP00000403294:P135A;ENSP00000352281:P282A	ENSP00000352281:P282A	P	+	1	0	SLAMF7	158989531	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.695000	0.05109	-0.065000	0.13021	-0.367000	0.07326	CCA	SLAMF7	-	NULL	ENSG00000026751		0.463	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLAMF7	HGNC	protein_coding	OTTHUMT00000060464.1	107	0.00	0	C	NM_021181		160722907	160722907	+1	no_errors	ENST00000359331	ensembl	human	known	69_37n	missense	113	10.32	13	SNP	0.000	G
SNHG14	104472715	genome.wustl.edu	37	15	25327738	25327738	+	RNA	SNP	G	G	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr15:25327738G>C	ENST00000546682.1	+	0	74				SNORD116-15_ENST00000384445.1_RNA|SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-17_ENST00000383929.1_RNA|SNORD116-14_ENST00000383894.1_RNA|SNORD116-16_ENST00000384533.1_RNA|SNORD116-18_ENST00000383961.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		CTTCCTAGGTGGTGTGGGCAT	0.537																																						dbGAP											0																																										-	-	-			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25327738G>C				RNA	SNP	-	NULL	ENST00000546682.1	37	NULL		15																																																																																			SNHG14	-	-	ENSG00000224078		0.537	SNHG14-022	KNOWN	basic	antisense	SNHG14	HGNC	processed_transcript	OTTHUMT00000408281.1	59	0.00	0	G			25327738	25327738	+1	no_errors	ENST00000383025	ensembl	human	known	69_37n	rna	50	28.57	20	SNP	0.003	C
GNL3	26354	genome.wustl.edu	37	3	52724803	52724803	+	Intron	SNP	G	G	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr3:52724803G>C	ENST00000418458.1	+	7	827				SNORD19_ENST00000391191.1_RNA|GNL3_ENST00000394799.2_Intron|SNORD19B_ENST00000459623.1_RNA|SNORD19_ENST00000410413.1_RNA|SNORD69_ENST00000391150.1_RNA|SNORD19B_ENST00000516978.1_RNA	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)						cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		TGATTTAAGTGAATGAAAAAT	0.363																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.654+83G>C	3.37:g.52724803G>C			B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	RNA	SNP	-	NULL	ENST00000418458.1	37	NULL	CCDS2861.1	3																																																																																			SNORD19B	-	-	ENSG00000238862		0.363	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORD19B	HGNC	protein_coding	OTTHUMT00000352032.1	59	0.00	0	G	NM_014366		52724803	52724803	+1	no_errors	ENST00000459623	ensembl	human	known	69_37n	rna	77	23.76	24	SNP	0.000	C
SNX29	92017	genome.wustl.edu	37	16	12172727	12172727	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr16:12172727A>C	ENST00000566228.1	+	11	1426	c.1357A>C	c.(1357-1359)Agc>Cgc	p.S453R	SNX29_ENST00000323433.4_Missense_Mutation_p.S68R|SNX29_ENST00000306030.3_Missense_Mutation_p.S68R	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	453						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AAGTCCTCTGAGCAGCCTGTT	0.552																																						dbGAP											0													75.0	73.0	74.0					16																	12172727		2011	4178	6189	-	-	-	SO:0001583	missense	0			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1357A>C	16.37:g.12172727A>C	ENSP00000456480:p.Ser453Arg		B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.S68R	ENST00000566228.1	37	c.202	CCDS10553.2	16	.	.	.	.	.	.	.	.	.	.	A	15.62	2.888749	0.52014	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	.	.	.	5.26	4.17	0.49024	.	0.233217	0.46145	D	0.000319	T	0.26593	0.0650	L	0.51422	1.61	0.21841	N	0.999519	P	0.37015	0.578	B	0.33890	0.172	T	0.12372	-1.0550	9	0.15952	T	0.53	-5.6699	7.7846	0.29085	0.9049:0.0:0.0951:0.0	.	453	Q8TEQ0	SNX29_HUMAN	R	68	.	ENSP00000306940:S68R	S	+	1	0	SNX29	12080228	1.000000	0.71417	0.993000	0.49108	0.935000	0.57460	4.693000	0.61753	0.847000	0.35167	0.456000	0.33151	AGC	SNX29	-	NULL	ENSG00000048471		0.552	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNX29	HGNC	protein_coding	OTTHUMT00000422622.1	27	0.00	0	A			12172727	12172727	+1	no_errors	ENST00000306030	ensembl	human	known	69_37n	missense	26	25.71	9	SNP	0.998	C
SORT1	6272	genome.wustl.edu	37	1	109878931	109878931	+	Silent	SNP	T	T	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr1:109878931T>C	ENST00000256637.6	-	11	1360	c.1302A>G	c.(1300-1302)ggA>ggG	p.G434G	SORT1_ENST00000538502.1_Silent_p.G297G	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	434					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TCCACCTTCCTCCTTGGTCAA	0.413																																						dbGAP											0													186.0	158.0	167.0					1																	109878931		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1302A>G	1.37:g.109878931T>C			B4DWI3|C0JYZ0|Q8IZ49	Silent	SNP	pfam_BNR_rpt,smart_VPS10	p.G434	ENST00000256637.6	37	c.1302	CCDS798.1	1																																																																																			SORT1	-	smart_VPS10	ENSG00000134243		0.413	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORT1	HGNC	protein_coding	OTTHUMT00000033179.1	231	0.43	1	T	NM_002959		109878931	109878931	-1	no_errors	ENST00000256637	ensembl	human	known	69_37n	silent	178	18.35	40	SNP	1.000	C
SPTA1	6708	genome.wustl.edu	37	1	158624423	158624423	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr1:158624423G>A	ENST00000368147.4	-	21	3194	c.3014C>T	c.(3013-3015)aCg>aTg	p.T1005M		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1005	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)					ACTGAGCAGCGTTAAGACATC	0.468																																						dbGAP											0													98.0	96.0	96.0					1																	158624423		1942	4143	6085	-	-	-	SO:0001583	missense	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.3014C>T	1.37:g.158624423G>A	ENSP00000357129:p.Thr1005Met		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_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_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.T1005M	ENST00000368147.4	37	c.3014	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761201	0.69763	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51325	0.71;0.71	5.08	3.22	0.36961	Src homology-3 domain (4);Spectrin alpha chain, SH3 domain (1);	0.000000	0.33144	N	0.005239	T	0.50803	0.1637	M	0.73319	2.225	0.49389	D	0.999782	D	0.67145	0.996	D	0.65323	0.934	T	0.52480	-0.8570	10	0.44086	T	0.13	.	10.1997	0.43075	0.1623:0.0:0.8377:0.0	.	1005	P02549	SPTA1_HUMAN	M	1005	ENSP00000357130:T1005M;ENSP00000357129:T1005M	ENSP00000357129:T1005M	T	-	2	0	SPTA1	156891047	1.000000	0.71417	0.941000	0.38009	0.778000	0.44026	4.005000	0.57075	0.747000	0.32809	0.491000	0.48974	ACG	SPTA1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	ENSG00000163554		0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	111	0.00	0	G	NM_003126		158624423	158624423	-1	no_errors	ENST00000368148	ensembl	human	known	69_37n	missense	167	13.92	27	SNP	0.995	A
SV2B	9899	genome.wustl.edu	37	15	91809865	91809865	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr15:91809865T>A	ENST00000394232.1	+	7	1532	c.1062T>A	c.(1060-1062)agT>agA	p.S354R	SV2B_ENST00000330276.4_Missense_Mutation_p.S354R|SV2B_ENST00000545111.2_Missense_Mutation_p.S203R	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	354					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AGATCCAAAGTTCAACAGGAA	0.413																																						dbGAP											0													79.0	80.0	80.0					15																	91809865		2198	4298	6496	-	-	-	SO:0001583	missense	0			AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1062T>A	15.37:g.91809865T>A	ENSP00000377779:p.Ser354Arg		B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata	p.S354R	ENST00000394232.1	37	c.1062	CCDS10370.1	15	.	.	.	.	.	.	.	.	.	.	T	17.42	3.386106	0.61956	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.62232	0.07;0.04;0.04	5.44	1.67	0.24075	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.037245	0.85682	D	0.000000	T	0.58736	0.2143	L	0.60455	1.87	0.47905	D	0.999548	P	0.47106	0.89	P	0.48952	0.596	T	0.52208	-0.8606	10	0.21014	T	0.42	-16.0628	7.1375	0.25537	0.0:0.3841:0.0:0.6159	.	354	Q7L1I2	SV2B_HUMAN	R	203;354;354	ENSP00000443243:S203R;ENSP00000377779:S354R;ENSP00000332818:S354R	ENSP00000332818:S354R	S	+	3	2	SV2B	89610869	0.990000	0.36364	0.832000	0.32986	0.969000	0.65631	0.382000	0.20635	0.344000	0.23847	0.533000	0.62120	AGT	SV2B	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata	ENSG00000185518		0.413	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2B	HGNC	protein_coding	OTTHUMT00000313494.3	118	0.00	0	T	NM_014848		91809865	91809865	+1	no_errors	ENST00000330276	ensembl	human	known	69_37n	missense	124	26.19	44	SNP	0.892	A
THAP1	55145	genome.wustl.edu	37	8	42693459	42693459	+	Silent	SNP	T	T	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr8:42693459T>C	ENST00000254250.3	-	3	518	c.288A>G	c.(286-288)ccA>ccG	p.P96P	THAP1_ENST00000345117.2_Missense_Mutation_p.H31R|THAP1_ENST00000532093.1_5'Flank	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	96	Pro-rich.				cell cycle (GO:0007049)|endothelial cell proliferation (GO:0001935)|regulation of mitotic cell cycle (GO:0007346)|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)			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GCTGTTCCTGTGGCTCCAGAA	0.428																																						dbGAP											0													109.0	128.0	122.0					8																	42693459		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC021721	CCDS6136.1, CCDS6137.1	8p11.1	2013-01-25			ENSG00000131931	ENSG00000131931		"""THAP (C2CH-type zinc finger) domain containing"""	20856	protein-coding gene	gene with protein product		609520	"""dystonia 6, torsion (autosomal dominant)"""	DYT6		12575992, 12717420, 19182804	Standard	NM_018105		Approved	FLJ10477, 4833431A01Rik	uc003xpk.3	Q9NVV9	OTTHUMG00000165276	ENST00000254250.3:c.288A>G	8.37:g.42693459T>C			A6NCB6|D3DSY5|H9KV49|Q53FQ1|Q6IA99	Missense_Mutation	SNP	NULL	p.H31R	ENST00000254250.3	37	c.92	CCDS6136.1	8	.	.	.	.	.	.	.	.	.	.	T	10.06	1.246520	0.22796	.	.	ENSG00000131931	ENST00000345117	D	0.96992	-4.2	5.37	-10.7	0.00240	.	.	.	.	.	D	0.85062	0.5611	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.75411	-0.3327	6	0.07990	T	0.79	-4.2526	6.0208	0.19628	0.0813:0.2673:0.4638:0.1876	.	.	.	.	R	31	ENSP00000344966:H31R	ENSP00000344966:H31R	H	-	2	0	THAP1	42812616	.	.	0.009000	0.14445	0.972000	0.66771	.	.	-1.963000	0.01013	0.477000	0.44152	CAC	THAP1	-	NULL	ENSG00000131931		0.428	THAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP1	HGNC	protein_coding	OTTHUMT00000383161.1	70	0.00	0	T	NM_018105		42693459	42693459	-1	no_errors	ENST00000345117	ensembl	human	known	69_37n	missense	90	16.67	18	SNP	0.005	C
TG	7038	genome.wustl.edu	37	8	133919044	133919044	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr8:133919044G>T	ENST00000220616.4	+	17	3786	c.3746G>T	c.(3745-3747)tGc>tTc	p.C1249F	TG_ENST00000377869.1_Missense_Mutation_p.C1249F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1249					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAATTGCTGTGCCGCCAGGGC	0.627																																						dbGAP											0													62.0	52.0	55.0					8																	133919044		2203	4300	6503	-	-	-	SO:0001583	missense	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3746G>T	8.37:g.133919044G>T	ENSP00000220616:p.Cys1249Phe		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.C1249F	ENST00000220616.4	37	c.3746	CCDS34944.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.66|12.66	2.005737|2.005737	0.35415|0.35415	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000518505|ENST00000377869;ENST00000543313;ENST00000220616	.|T;T	.|0.72282	.|-0.64;-0.54	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	D|D	0.83390|0.83390	0.5244|0.5244	M|M	0.74258|0.74258	2.255|2.255	0.24258|0.24258	N|N	0.995296|0.995296	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.77003|0.77003	-0.2749|-0.2749	5|10	.|0.87932	.|D	.|0	.|.	14.8871|14.8871	0.70579|0.70579	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1249	.|P01266	.|THYG_HUMAN	S|F	193|1249;55;1249	.|ENSP00000367100:C1249F;ENSP00000220616:C1249F	.|ENSP00000220616:C1249F	A|C	+|+	1|2	0|0	TG|TG	133988226|133988226	1.000000|1.000000	0.71417|0.71417	0.060000|0.060000	0.19600|0.19600	0.025000|0.025000	0.11179|0.11179	6.230000|6.230000	0.72301|0.72301	2.572000|2.572000	0.86782|0.86782	0.655000|0.655000	0.94253|0.94253	GCC|TGC	TG	-	pirsf_Thyroglobulin	ENSG00000042832		0.627	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	38	0.00	0	G	NM_003235		133919044	133919044	+1	no_errors	ENST00000220616	ensembl	human	known	69_37n	missense	72	12.94	11	SNP	0.255	T
TMEM132A	54972	genome.wustl.edu	37	11	60697989	60697989	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr11:60697989G>A	ENST00000453848.2	+	5	1032	c.874G>A	c.(874-876)Gtg>Atg	p.V292M	TMEM132A_ENST00000005286.4_Missense_Mutation_p.V292M			Q24JP5	T132A_HUMAN	transmembrane protein 132A	292						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CAGGATCAAGGTGAAGAAGGG	0.592																																						dbGAP											0													130.0	138.0	135.0					11																	60697989		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.874G>A	11.37:g.60697989G>A	ENSP00000405823:p.Val292Met		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	NULL	p.V292M	ENST00000453848.2	37	c.874	CCDS44618.1	11	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622737	0.66787	.	.	ENSG00000006118	ENST00000544065;ENST00000453848;ENST00000005286	T;T;T	0.14266	2.53;2.52;2.52	5.4	5.4	0.78164	.	0.253563	0.27811	N	0.017744	T	0.24431	0.0592	M	0.68317	2.08	0.46336	D	0.998998	P;P;P	0.49090	0.919;0.773;0.773	P;B;B	0.46208	0.507;0.329;0.329	T	0.01074	-1.1460	10	0.87932	D	0	.	17.3535	0.87329	0.0:0.0:1.0:0.0	.	281;292;292	Q24JP5-3;Q24JP5;Q24JP5-2	.;T132A_HUMAN;.	M	30;292;292	ENSP00000442754:V30M;ENSP00000405823:V292M;ENSP00000005286:V292M	ENSP00000005286:V292M	V	+	1	0	TMEM132A	60454565	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.224000	0.51238	2.704000	0.92352	0.655000	0.94253	GTG	TMEM132A	-	NULL	ENSG00000006118		0.592	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	TMEM132A	HGNC	protein_coding	OTTHUMT00000396352.1	59	0.00	0	G	NM_017870		60697989	60697989	+1	no_errors	ENST00000005286	ensembl	human	known	69_37n	missense	31	31.11	14	SNP	1.000	A
TPM1	7168	genome.wustl.edu	37	15	63351850	63351850	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr15:63351850G>C	ENST00000403994.3	+	4	543	c.463G>C	c.(463-465)Gct>Cct	p.A155P	TPM1_ENST00000559397.1_Missense_Mutation_p.A155P|TPM1_ENST00000334895.5_Missense_Mutation_p.A119P|TPM1_ENST00000559556.1_Missense_Mutation_p.A155P|TPM1_ENST00000358278.3_Missense_Mutation_p.A155P|TPM1_ENST00000404484.4_Missense_Mutation_p.A119P|TPM1_ENST00000560959.1_Missense_Mutation_p.A119P|TPM1_ENST00000559281.1_Missense_Mutation_p.A119P|TPM1_ENST00000267996.7_Missense_Mutation_p.A155P|TPM1_ENST00000288398.6_Missense_Mutation_p.A155P|TPM1_ENST00000317516.7_Missense_Mutation_p.A119P|TPM1_ENST00000357980.4_Missense_Mutation_p.A197P|TPM1_ENST00000560445.1_Intron	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	155					cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(1)|large_intestine(1)|lung(2)	4						CAAGCACATTGCTGAAGATGC	0.483																																						dbGAP											0													73.0	71.0	71.0					15																	63351850		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"""Tropomyosins"""	12010	protein-coding gene	gene with protein product		191010	"""chromosome 15 open reading frame 13"", ""cardiomyopathy, hypertrophic 3"""	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000403994.3:c.463G>C	15.37:g.63351850G>C	ENSP00000385107:p.Ala155Pro		B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	Missense_Mutation	SNP	pfam_Tropomyosin,prints_Tropomyosin	p.A155P	ENST00000403994.3	37	c.463	CCDS45273.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.539390	0.96474	.	.	ENSG00000140416	ENST00000288398;ENST00000267996;ENST00000358278;ENST00000403994;ENST00000357980;ENST00000404484;ENST00000334895;ENST00000317516	D;D;D;D;D;D	0.98044	-4.68;-4.68;-4.68;-4.68;-4.68;-4.68	5.95	5.95	0.96441	.	0.000000	0.51477	D	0.000099	D	0.99414	0.9793	H	0.99182	4.46	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.998;0.998;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.996;0.995;0.994;0.999;0.999;0.998;0.999;1.0;0.999;0.998;1.0;0.998;0.999;0.999	D	0.98258	1.0497	10	0.87932	D	0	-9.7728	19.3813	0.94536	0.0:0.0:1.0:0.0	.	119;119;155;121;119;119;155;197;155;155;155;155;155;155	B7Z722;B7Z596;P09493-6;F5H7S3;D9YZV7;Q1ZYL5;D9YZV4;Q6ZN40;D9YZV8;D9YZV5;Q9Y427;D9YZV3;D9YZV2;P09493	.;.;.;.;.;.;.;.;.;.;.;.;.;TPM1_HUMAN	P	155;155;155;155;197;177;119;121	ENSP00000288398:A155P;ENSP00000267996:A155P;ENSP00000351022:A155P;ENSP00000385107:A155P;ENSP00000350667:A197P;ENSP00000334624:A119P	ENSP00000267996:A155P	A	+	1	0	TPM1	61138903	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	GCT	TPM1	-	pfam_Tropomyosin,prints_Tropomyosin	ENSG00000140416		0.483	TPM1-002	KNOWN	basic|CCDS	protein_coding	TPM1	HGNC	protein_coding	OTTHUMT00000417083.2	100	0.00	0	G	NM_001018004		63351850	63351850	+1	no_errors	ENST00000267996	ensembl	human	known	69_37n	missense	100	44.13	79	SNP	1.000	C
TRIM46	80128	genome.wustl.edu	37	1	155150988	155150988	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr1:155150988delC	ENST00000334634.4	+	7	1184	c.1184delC	c.(1183-1185)gccfs	p.A395fs	TRIM46_ENST00000545012.1_Frame_Shift_Del_p.A269fs|TRIM46_ENST00000543729.1_Frame_Shift_Del_p.A402fs|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368382.1_Frame_Shift_Del_p.A372fs|TRIM46_ENST00000368383.3_Frame_Shift_Del_p.A395fs|TRIM46_ENST00000368385.4_Frame_Shift_Del_p.A395fs|TRIM46_ENST00000392451.2_Frame_Shift_Del_p.A395fs|RP11-201K10.3_ENST00000473363.2_Intron	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	395	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCACTGAAGCCCTCCAGACA	0.597																																						dbGAP											0													72.0	64.0	67.0					1																	155150988		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1184delC	1.37:g.155150988delC	ENSP00000334657:p.Ala395fs		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Frame_Shift_Del	DEL	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.L396fs	ENST00000334634.4	37	c.1184	CCDS1097.1	1																																																																																			TRIM46	-	NULL	ENSG00000163462		0.597	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM46	HGNC	protein_coding	OTTHUMT00000086728.1	28	0.00	0	C	NM_025058		155150988	155150988	+1	no_errors	ENST00000334634	ensembl	human	known	69_37n	frame_shift_del	61	21.95	18	DEL	1.000	-
TRIM58	25893	genome.wustl.edu	37	1	248039569	248039569	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr1:248039569T>G	ENST00000366481.3	+	6	1287	c.1239T>G	c.(1237-1239)atT>atG	p.I413M	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	413	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCATTGGGATTTTCTTGGACT	0.483																																						dbGAP											0													166.0	172.0	170.0					1																	248039569		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1239T>G	1.37:g.248039569T>G	ENSP00000355437:p.Ile413Met		Q6B0H9	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.I413M	ENST00000366481.3	37	c.1239	CCDS1636.1	1	.	.	.	.	.	.	.	.	.	.	T	9.047	0.991214	0.18966	.	.	ENSG00000162722	ENST00000366481	T	0.71579	-0.58	4.05	-2.59	0.06209	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.520245	0.17538	N	0.170623	D	0.82715	0.5097	H	0.97023	3.925	0.80722	D	1	D	0.56968	0.978	D	0.64042	0.921	T	0.75374	-0.3340	10	0.87932	D	0	.	0.3214	0.00304	0.3644:0.2064:0.1363:0.2928	.	413	Q8NG06	TRI58_HUMAN	M	413	ENSP00000355437:I413M	ENSP00000355437:I413M	I	+	3	3	TRIM58	246106192	0.063000	0.20901	0.318000	0.25279	0.096000	0.18686	-0.929000	0.03976	-0.871000	0.04042	-1.532000	0.00920	ATT	TRIM58	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000162722		0.483	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM58	HGNC	protein_coding	OTTHUMT00000096860.1	841	0.00	0	T	NM_015431		248039569	248039569	+1	no_errors	ENST00000366481	ensembl	human	known	69_37n	missense	1741	13.58	275	SNP	0.611	G
TTN	7273	genome.wustl.edu	37	2	179396767	179396767	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr2:179396767G>A	ENST00000591111.1	-	308	99876	c.99652C>T	c.(99652-99654)Cgg>Tgg	p.R33218W	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R34859W|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R25919W|TTN_ENST00000460472.2_Missense_Mutation_p.R25794W|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R32291W|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R25986W|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33218					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)			GGACGTGACCGGATCAGCTCA	0.522																																						dbGAP											0													97.0	91.0	93.0					2																	179396767		2056	4211	6267	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.99652C>T	2.37:g.179396767G>A	ENSP00000465570:p.Arg33218Trp		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R32291W	ENST00000591111.1	37	c.96871		2	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593483	0.46214	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68025	-0.3;-0.05;-0.07;-0.08	5.55	3.62	0.41486	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.69106	0.3074	N	0.24115	0.695	0.42116	D	0.991407	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.65987	0.94;0.94;0.94;0.94	T	0.74349	-0.3694	9	0.87932	D	0	.	14.0552	0.64764	0.0:0.0:0.558:0.442	.	25794;25919;25986;33218	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	32291;25794;25986;25919;25791	ENSP00000343764:R32291W;ENSP00000434586:R25794W;ENSP00000340554:R25986W;ENSP00000352154:R25919W	ENSP00000340554:R25986W	R	-	1	2	TTN	179105013	1.000000	0.71417	0.993000	0.49108	0.632000	0.37999	3.672000	0.54583	1.325000	0.45301	-0.188000	0.12872	CGG	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.522	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	163	0.00	0	G	NM_133378		179396767	179396767	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	134	20.00	34	SNP	1.000	A
TXNRD3NB	645840	genome.wustl.edu	37	3	126291351	126291351	+	Silent	SNP	C	C	A	rs372216142		TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr3:126291351C>A	ENST00000404489.2	-	1	128	c.36G>T	c.(34-36)ccG>ccT	p.P12P	TXNRD3NB_ENST00000383572.2_Silent_p.P12P			Q6F5E7	TR3N_HUMAN	thioredoxin reductase 3 neighbor	12										endometrium(1)|large_intestine(2)|skin(2)	5						CTTTCAGCTCCGGCTGCCCAA	0.612																																						dbGAP											0													39.0	36.0	37.0					3																	126291351		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC130546	CCDS33846.1	3q21.3	2011-04-13	2011-04-13	2011-04-13	ENSG00000206483	ENSG00000206483			33870	protein-coding gene	gene with protein product	"""thioredoxin reductase 3 new transcript 1"""		"""thioredoxin reductase 3 intronic transcript 1"""	TXNRD3IT1		15674732	Standard	NM_001039783		Approved	TR2IT1, TXNRD3NT1	uc003ejc.3	Q6F5E7	OTTHUMG00000162732	ENST00000404489.2:c.36G>T	3.37:g.126291351C>A				Silent	SNP	NULL	p.P12	ENST00000404489.2	37	c.36	CCDS33846.1	3																																																																																			TXNRD3NB	-	NULL	ENSG00000206483		0.612	TXNRD3NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNRD3NB	HGNC	protein_coding	OTTHUMT00000370233.2	35	0.00	0	C	NM_001039783		126291351	126291351	-1	no_errors	ENST00000383572	ensembl	human	known	69_37n	silent	37	22.92	11	SNP	0.176	A
USH2A	7399	genome.wustl.edu	37	1	215848460	215848460	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr1:215848460C>A	ENST00000307340.3	-	63	13179	c.12793G>T	c.(12793-12795)Ggt>Tgt	p.G4265C	USH2A_ENST00000366943.2_Missense_Mutation_p.G4265C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4265	Fibronectin type-III 28. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ggagagagaccttCTGGAGGT	0.448										HNSCC(13;0.011)																												dbGAP											0													87.0	81.0	83.0					1																	215848460		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12793G>T	1.37:g.215848460C>A	ENSP00000305941:p.Gly4265Cys		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.G4265C	ENST00000307340.3	37	c.12793	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902598	0.52227	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.17213	2.3;2.29	5.26	4.34	0.51931	Fibronectin, type III (3);	0.000000	0.45867	D	0.000322	T	0.40522	0.1120	M	0.83118	2.625	0.58432	D	0.999991	D	0.89917	1.0	D	0.69479	0.964	T	0.29336	-1.0015	10	0.52906	T	0.07	.	9.3946	0.38394	0.0:0.7804:0.1438:0.0758	.	4265	O75445	USH2A_HUMAN	C	4265	ENSP00000305941:G4265C;ENSP00000355910:G4265C	ENSP00000305941:G4265C	G	-	1	0	USH2A	213915083	0.969000	0.33509	0.046000	0.18839	0.558000	0.35554	2.932000	0.48940	1.218000	0.43458	0.655000	0.94253	GGT	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	341	0.00	0	C	NM_007123		215848460	215848460	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	missense	478	11.60	63	SNP	0.945	A
USO1	8615	genome.wustl.edu	37	4	76731634	76731634	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr4:76731634A>G	ENST00000538159.1	+	23	2552	c.2552A>G	c.(2551-2553)aAa>aGa	p.K851R	USO1_ENST00000514213.2_Missense_Mutation_p.K827R			O60763	USO1_HUMAN	USO1 vesicle transport factor	842					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATAGCCACCAAAACTACTGAT	0.333																																						dbGAP											0													127.0	125.0	126.0					4																	76731634		1834	4090	5924	-	-	-	SO:0001583	missense	0			AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.2552A>G	4.37:g.76731634A>G	ENSP00000440586:p.Lys851Arg		B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	pfam_Vesicle_Uso1_P115_head,pfam_Uso1_p115_C,superfamily_ARM-type_fold,superfamily_t-SNARE	p.K851R	ENST00000538159.1	37	c.2552		4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.106|8.106	0.777667|0.777667	0.16120|0.16120	.|.	.|.	ENSG00000138768|ENSG00000138768	ENST00000441296|ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	.|.	.|.	.|.	6.07|6.07	2.24|2.24	0.28232|0.28232	.|Uso1/p115-like vesicle tethering protein, C-terminal (1);Armadillo-type fold (1);	0.426796|0.426796	0.26514|0.26514	N|N	0.023954|0.023954	T|T	0.14313|0.14313	0.0346|0.0346	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.11235	.|0.002;0.004	.|B;B	.|0.12156	.|0.003;0.007	T|T	0.24905|0.24905	-1.0147|-1.0147	7|9	0.09084|0.12103	T|T	0.74|0.63	.|.	5.1|5.1	0.14754|0.14754	0.7187:0.0:0.1483:0.133|0.7187:0.0:0.1483:0.133	.|.	.|851;842	.|F5GYR8;O60763	.|.;USO1_HUMAN	E|R	518|677;851;827;770	.|.	ENSP00000411698:K518E|ENSP00000264904:K770R	K|K	+|+	1|2	0|0	USO1|USO1	76950658|76950658	0.031000|0.031000	0.19500|0.19500	0.018000|0.018000	0.16275|0.16275	0.399000|0.399000	0.30720|0.30720	1.162000|1.162000	0.31786|0.31786	0.527000|0.527000	0.28560|0.28560	0.528000|0.528000	0.53228|0.53228	AAA|AAA	USO1	-	pfam_Uso1_p115_C,superfamily_ARM-type_fold	ENSG00000138768		0.333	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	USO1	HGNC	protein_coding		69	0.00	0	A	NM_003715		76731634	76731634	+1	no_errors	ENST00000538159	ensembl	human	known	69_37n	missense	41	25.45	14	SNP	0.002	G
VCAM1	7412	genome.wustl.edu	37	1	101200206	101200206	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr1:101200206A>T	ENST00000294728.2	+	8	2042	c.1941A>T	c.(1939-1941)aaA>aaT	p.K647N	VCAM1_ENST00000370115.1_Missense_Mutation_p.K448N|VCAM1_ENST00000370119.4_Missense_Mutation_p.K585N|VCAM1_ENST00000347652.2_Missense_Mutation_p.K555N	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	647	Ig-like C2-type 7.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CAGTACTAAAATCTATAGATG	0.403																																						dbGAP											0													89.0	92.0	91.0					1																	101200206		2203	4300	6503	-	-	-	SO:0001583	missense	0			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1941A>T	1.37:g.101200206A>T	ENSP00000294728:p.Lys647Asn		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_VCAM-1,prints_ICAM_VCAM_N	p.K647N	ENST00000294728.2	37	c.1941	CCDS773.1	1	.	.	.	.	.	.	.	.	.	.	A	8.554	0.876132	0.17395	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.77	-1.5	0.08691	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.794281	0.12619	N	0.453166	T	0.31796	0.0808	L	0.55743	1.74	0.09310	N	1	B;B;B	0.30709	0.044;0.291;0.024	B;B;B	0.29267	0.037;0.1;0.049	T	0.23013	-1.0200	10	0.18276	T	0.48	-11.7567	6.6142	0.22769	0.588:0.1294:0.2827:0.0	.	585;555;647	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	N	585;555;647;448	ENSP00000359137:K585N;ENSP00000304611:K555N;ENSP00000294728:K647N;ENSP00000359133:K448N	ENSP00000294728:K647N	K	+	3	2	VCAM1	100972794	0.000000	0.05858	0.427000	0.26684	0.414000	0.31173	-0.224000	0.09164	-0.160000	0.11002	-0.250000	0.11733	AAA	VCAM1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000162692		0.403	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCAM1	HGNC	protein_coding	OTTHUMT00000030213.1	271	0.00	0	A	NM_001078		101200206	101200206	+1	no_errors	ENST00000294728	ensembl	human	known	69_37n	missense	188	26.07	67	SNP	0.033	T
VWF	7450	genome.wustl.edu	37	12	6125930	6125930	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr12:6125930T>A	ENST00000261405.5	-	29	5414	c.5160A>T	c.(5158-5160)aaA>aaT	p.K1720N		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1720	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.K1720N(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTATATTGGCTTTTGAAATGA	0.478																																						dbGAP											1	Substitution - Missense(1)	breast(1)											73.0	81.0	78.0					12																	6125930		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5160A>T	12.37:g.6125930T>A	ENSP00000261405:p.Lys1720Asn		Q8TCE8|Q99806	Missense_Mutation	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.K1720N	ENST00000261405.5	37	c.5160	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	.	16.10	3.026511	0.54683	.	.	ENSG00000110799	ENST00000261405	T	0.78924	-1.22	4.31	-0.714	0.11219	von Willebrand factor, type A (3);	0.143577	0.31976	N	0.006762	T	0.69006	0.3063	L	0.55017	1.72	0.80722	D	1	B	0.31413	0.322	B	0.36808	0.233	T	0.60525	-0.7246	10	0.59425	D	0.04	.	4.955	0.14035	0.1413:0.389:0.0:0.4696	.	1720	P04275	VWF_HUMAN	N	1720	ENSP00000261405:K1720N	ENSP00000261405:K1720N	K	-	3	2	VWF	5996191	0.162000	0.22906	0.909000	0.35828	0.954000	0.61252	-0.324000	0.07986	-0.020000	0.14032	0.454000	0.30748	AAA	VWF	-	pirsf_VWF,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000110799		0.478	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	225	0.00	0	T	NM_000552		6125930	6125930	-1	no_errors	ENST00000261405	ensembl	human	known	69_37n	missense	127	30.22	55	SNP	0.061	A
ZMYND19	116225	genome.wustl.edu	37	9	140477613	140477613	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr9:140477613T>C	ENST00000298585.2	-	5	588	c.362A>G	c.(361-363)gAg>gGg	p.E121G		NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	121						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CAAGCTTTGCTCCCTTAAAGA	0.502																																						dbGAP											0													133.0	139.0	137.0					9																	140477613		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"""Zinc fingers, MYND-type"""	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.362A>G	9.37:g.140477613T>C	ENSP00000298585:p.Glu121Gly		Q5T366	Missense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.E121G	ENST00000298585.2	37	c.362	CCDS7048.1	9	.	.	.	.	.	.	.	.	.	.	T	16.88	3.244446	0.59103	.	.	ENSG00000165724	ENST00000298585	.	.	.	5.29	5.29	0.74685	.	0.156426	0.56097	D	0.000027	T	0.67515	0.2901	L	0.46157	1.445	0.58432	D	0.999998	D	0.57899	0.981	D	0.67900	0.954	T	0.70414	-0.4878	9	0.87932	D	0	-34.6005	11.6441	0.51250	0.0:0.0:0.0:1.0	.	121	Q96E35	ZMY19_HUMAN	G	121	.	ENSP00000298585:E121G	E	-	2	0	ZMYND19	139597434	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.915000	0.87484	2.007000	0.58848	0.459000	0.35465	GAG	ZMYND19	-	NULL	ENSG00000165724		0.502	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND19	HGNC	protein_coding	OTTHUMT00000055356.1	25	0.00	0	T	NM_138462		140477613	140477613	-1	no_errors	ENST00000298585	ensembl	human	known	69_37n	missense	13	40.91	9	SNP	1.000	C
ZNF280D	54816	genome.wustl.edu	37	15	56959161	56959161	+	Silent	SNP	T	T	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr15:56959161T>A	ENST00000267807.7	-	15	1785	c.1569A>T	c.(1567-1569)ggA>ggT	p.G523G	ZNF280D_ENST00000396245.1_Silent_p.G227G|ZNF280D_ENST00000559000.1_Silent_p.G510G|ZNF280D_ENST00000559237.1_Silent_p.G510G	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	523					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		ATTGCAGAGGTCCAACTGAAG	0.353																																						dbGAP											0													43.0	42.0	42.0					15																	56959161		2191	4292	6483	-	-	-	SO:0001819	synonymous_variant	0			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1569A>T	15.37:g.56959161T>A			A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G523	ENST00000267807.7	37	c.1569	CCDS32245.1	15																																																																																			ZNF280D	-	NULL	ENSG00000137871		0.353	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF280D	HGNC	protein_coding	OTTHUMT00000418891.2	145	0.00	0	T	XM_370867		56959161	56959161	-1	no_errors	ENST00000267807	ensembl	human	known	69_37n	silent	105	22.22	30	SNP	1.000	A
ZNF454	285676	genome.wustl.edu	37	5	178392207	178392207	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr5:178392207G>A	ENST00000320129.3	+	5	1105	c.802G>A	c.(802-804)Gga>Aga	p.G268R	ZNF454_ENST00000519564.1_Missense_Mutation_p.G268R	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	268					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AATTCATACTGGAGAGAAGCC	0.403																																						dbGAP											0													66.0	73.0	70.0					5																	178392207		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.802G>A	5.37:g.178392207G>A	ENSP00000326249:p.Gly268Arg		Q2M1P2|Q2M323	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.G268R	ENST00000320129.3	37	c.802	CCDS4441.1	5	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109301	0.77096	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.26223	1.75;1.75	4.46	4.46	0.54185	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40222	N	0.001157	T	0.47060	0.1425	L	0.60067	1.865	0.51482	D	0.99992	D	0.89917	1.0	D	0.97110	1.0	T	0.45600	-0.9250	10	0.66056	D	0.02	-15.0894	15.0017	0.71476	0.0:0.0:1.0:0.0	.	268	Q8N9F8	ZN454_HUMAN	R	268	ENSP00000326249:G268R;ENSP00000430354:G268R	ENSP00000326249:G268R	G	+	1	0	ZNF454	178324813	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.431000	0.80335	2.469000	0.83416	0.555000	0.69702	GGA	ZNF454	-	pfscan_Znf_C2H2	ENSG00000178187		0.403	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF454	HGNC	protein_coding	OTTHUMT00000253476.2	199	0.00	0	G	XM_209718		178392207	178392207	+1	no_errors	ENST00000320129	ensembl	human	known	69_37n	missense	388	12.78	57	SNP	1.000	A
ZNF534	147658	genome.wustl.edu	37	19	52942384	52942384	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr19:52942384G>T	ENST00000332323.6	+	4	1771	c.1710G>T	c.(1708-1710)aaG>aaT	p.K570N	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.K557N	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	570					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						AATGTGGCAAGGTCTTCAGTC	0.443																																						dbGAP											0													84.0	79.0	81.0					19																	52942384		692	1591	2283	-	-	-	SO:0001583	missense	0			AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1710G>T	19.37:g.52942384G>T	ENSP00000327538:p.Lys570Asn		Q76KX9	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.K570N	ENST00000332323.6	37	c.1710	CCDS46165.1	19	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654788	0.29425	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.27890	1.64;1.64	1.69	-1.28	0.09318	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57403	0.2051	M	0.94021	3.485	0.52501	D	0.999958	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.56890	-0.7904	9	0.66056	D	0.02	.	6.0898	0.19989	0.6232:0.0:0.3768:0.0	.	557;570	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	N	570;557;569	ENSP00000327538:K570N;ENSP00000391358:K557N	ENSP00000327538:K570N	K	+	3	2	ZNF534	57634196	0.000000	0.05858	0.008000	0.14137	0.010000	0.07245	-0.624000	0.05540	-0.415000	0.07484	-0.544000	0.04233	AAG	ZNF534	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198633		0.443	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF534	HGNC	protein_coding	OTTHUMT00000460877.1	64	0.00	0	G	NM_182512		52942384	52942384	+1	no_errors	ENST00000332323	ensembl	human	known	69_37n	missense	109	14.84	19	SNP	0.248	T
ZNF470	388566	genome.wustl.edu	37	19	57089279	57089279	+	Silent	SNP	G	G	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr19:57089279G>A	ENST00000330619.8	+	6	2168	c.1482G>A	c.(1480-1482)acG>acA	p.T494T	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Silent_p.T494T	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	494					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GGCAGAGCACGCATCTGGCTC	0.463																																						dbGAP											0													63.0	67.0	66.0					19																	57089279		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1482G>A	19.37:g.57089279G>A			A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Silent	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.T494	ENST00000330619.8	37	c.1482	CCDS33122.1	19																																																																																			ZNF470	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197016		0.463	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF470	HGNC	protein_coding	OTTHUMT00000459707.2	82	0.00	0	G	NM_001001668		57089279	57089279	+1	no_errors	ENST00000330619	ensembl	human	known	69_37n	silent	189	15.56	35	SNP	0.000	A
ZSCAN10	84891	genome.wustl.edu	37	16	3142213	3142213	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A08F-01A-11W-A019-09	TCGA-A8-A08F-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4975eeda-984e-4a7a-8193-43d8b6e0271c	f3828bb5-e811-4992-ba01-0fe463d82cab	g.chr16:3142213C>A	ENST00000252463.2	-	2	423	c.336G>T	c.(334-336)ttG>ttT	p.L112F	ZSCAN10_ENST00000538082.2_Intron|ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000572548.1_Intron	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	112	Pro-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CTTCCGCAGGCAATTCCTTCT	0.627																																						dbGAP											0													41.0	46.0	44.0					16																	3142213		2197	4300	6497	-	-	-	SO:0001583	missense	0			AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.336G>T	16.37:g.3142213C>A	ENSP00000252463:p.Leu112Phe		B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L112F	ENST00000252463.2	37	c.336	CCDS10493.1	16	.	.	.	.	.	.	.	.	.	.	C	6.850	0.526026	0.13066	.	.	ENSG00000130182	ENST00000252463	T	0.06687	3.27	4.83	-1.09	0.09904	.	1.695270	0.03533	N	0.222789	T	0.05227	0.0139	N	0.14661	0.345	0.09310	N	1	B	0.19445	0.036	B	0.18871	0.023	T	0.38950	-0.9637	10	0.36615	T	0.2	-1.8322	3.8825	0.09083	0.1626:0.4574:0.0:0.38	.	112	Q96SZ4	ZSC10_HUMAN	F	112	ENSP00000252463:L112F	ENSP00000252463:L112F	L	-	3	2	ZSCAN10	3082214	0.000000	0.05858	0.002000	0.10522	0.130000	0.20726	-0.435000	0.06931	0.135000	0.18707	0.561000	0.74099	TTG	ZSCAN10	-	NULL	ENSG00000130182		0.627	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN10	HGNC	protein_coding	OTTHUMT00000437124.2	17	0.00	0	C	NM_032805		3142213	3142213	-1	no_errors	ENST00000252463	ensembl	human	known	69_37n	missense	22	37.14	13	SNP	0.000	A
