#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
A2M	2	genome.wustl.edu	37	12	9242994	9242994	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:9242994C>T	ENST00000318602.7	-	20	2861	c.2554G>A	c.(2554-2556)Ggg>Agg	p.G852R		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	852					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GTTTGCCGCCCGTTTGCACAG	0.502																																						dbGAP											0													151.0	153.0	153.0					12																	9242994		2064	4217	6281	-	-	-	SO:0001583	missense	0			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.2554G>A	12.37:g.9242994C>T	ENSP00000323929:p.Gly852Arg		Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin	p.G852R	ENST00000318602.7	37	c.2554	CCDS44827.1	12	.	.	.	.	.	.	.	.	.	.	C	2.523	-0.310200	0.05458	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.17054	2.3	5.23	1.18	0.20946	.	1.195520	0.05981	N	0.644258	T	0.22205	0.0535	M	0.80332	2.49	0.09310	N	1	B	0.28636	0.218	B	0.23852	0.049	T	0.36504	-0.9745	10	0.22706	T	0.39	.	8.4255	0.32727	0.0:0.6203:0.2372:0.1425	.	852	P01023	A2MG_HUMAN	R	852;867	ENSP00000323929:G852R	ENSP00000323929:G852R	G	-	1	0	A2M	9134261	0.004000	0.15560	0.004000	0.12327	0.032000	0.12392	1.653000	0.37323	0.270000	0.21984	-0.150000	0.13652	GGG	A2M	-	NULL	ENSG00000175899		0.502	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2M	HGNC	protein_coding	OTTHUMT00000317233.2	238	0.00	0	C	NM_000014		9242994	9242994	-1	no_errors	ENST00000318602	ensembl	human	known	69_37n	missense	128	14.00	21	SNP	0.010	T
ABCA10	10349	genome.wustl.edu	37	17	67149622	67149622	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:67149622A>C	ENST00000269081.4	-	34	4940	c.4031T>G	c.(4030-4032)aTa>aGa	p.I1344R	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1344	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CTTTCTCTTTATTCCCTCTGA	0.488																																						dbGAP											0													112.0	120.0	117.0					17																	67149622		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.4031T>G	17.37:g.67149622A>C	ENSP00000269081:p.Ile1344Arg		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I1344R	ENST00000269081.4	37	c.4031	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	A	13.08	2.130214	0.37630	.	.	ENSG00000154263	ENST00000269081	D	0.93426	-3.22	3.58	1.25	0.21368	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.244385	0.20514	U	0.090833	D	0.91888	0.7432	L	0.38175	1.15	0.09310	N	0.999994	D;D	0.58970	0.984;0.979	D;P	0.66497	0.944;0.905	T	0.82908	-0.0224	10	0.62326	D	0.03	.	1.9175	0.03300	0.5762:0.1688:0.0923:0.1626	.	336;1344	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	R	1344	ENSP00000269081:I1344R	ENSP00000269081:I1344R	I	-	2	0	ABCA10	64661217	0.084000	0.21492	0.001000	0.08648	0.030000	0.12068	3.159000	0.50731	0.026000	0.15269	-0.460000	0.05396	ATA	ABCA10	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000154263		0.488	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	53	0.00	0	A	NM_080282		67149622	67149622	-1	no_errors	ENST00000269081	ensembl	human	known	69_37n	missense	14	22.22	4	SNP	0.001	C
ABCA4	24	genome.wustl.edu	37	1	94576995	94576995	+	Splice_Site	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:94576995T>C	ENST00000370225.3	-	3	387	c.301A>G	c.(301-303)Atc>Gtc	p.I101V	ABCA4_ENST00000535735.1_Splice_Site_p.I101V	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	101					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AACACTTACATGGAGTTGTTA	0.522																																						dbGAP											0													61.0	55.0	57.0					1																	94576995		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.302+1A>G	1.37:g.94576995T>C			O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.I101V	ENST00000370225.3	37	c.301	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.250710	0.39797	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	T;T	0.52295	0.67;0.67	5.67	4.55	0.56014	.	0.138725	0.49916	D	0.000132	T	0.47395	0.1443	M	0.86953	2.85	0.48288	D	0.999625	P;B	0.34629	0.46;0.081	P;B	0.44447	0.45;0.017	T	0.50583	-0.8811	10	0.38643	T	0.18	.	10.6658	0.45731	0.0:0.0761:0.0:0.9239	.	101;101	F5H6E5;P78363	.;ABCA4_HUMAN	V	101	ENSP00000359245:I101V;ENSP00000437682:I101V	ENSP00000359245:I101V	I	-	1	0	ABCA4	94349583	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	2.545000	0.45769	0.991000	0.38814	-0.250000	0.11733	ATC	ABCA4	-	tigrfam_Rim_ABC_transpt	ENSG00000198691		0.522	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	82	0.00	0	T	NM_000350	Missense_Mutation	94576995	94576995	-1	no_errors	ENST00000370225	ensembl	human	known	69_37n	missense	44	13.73	7	SNP	1.000	C
ABCA8	10351	genome.wustl.edu	37	17	66872814	66872814	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:66872814C>T	ENST00000269080.2	-	32	4247	c.4110G>A	c.(4108-4110)caG>caA	p.Q1370Q	ABCA8_ENST00000430352.2_Silent_p.Q1410Q|ABCA8_ENST00000586539.1_Silent_p.Q1410Q	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1370	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GAGACTTCAGCTGGTCCTGCA	0.502																																						dbGAP											0													115.0	101.0	106.0					17																	66872814		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4110G>A	17.37:g.66872814C>T			A1L3U3|C9JQE6|Q86WW0	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.Q1410	ENST00000269080.2	37	c.4230	CCDS11680.1	17																																																																																			ABCA8	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000141338		0.502	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	261	0.00	0	C	NM_007168		66872814	66872814	-1	no_errors	ENST00000430352	ensembl	human	known	69_37n	silent	99	10.81	12	SNP	0.992	T
ABCB8	11194	genome.wustl.edu	37	7	150731368	150731368	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:150731368G>T	ENST00000297504.6	+	4	534	c.468G>T	c.(466-468)ttG>ttT	p.L156F	ABCB8_ENST00000477719.1_Missense_Mutation_p.L139F|ABCB8_ENST00000477092.1_Missense_Mutation_p.L139F|ABCB8_ENST00000542328.1_Missense_Mutation_p.L51F|ABCB8_ENST00000356058.4_Missense_Mutation_p.L176F|ABCB8_ENST00000493338.1_3'UTR|ABCB8_ENST00000498578.1_Missense_Mutation_p.L139F|ABCB8_ENST00000358849.4_Missense_Mutation_p.L139F			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	156	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	AGCTGGCCTTGGGTGCGGCAC	0.587																																						dbGAP											0													80.0	79.0	80.0					7																	150731368		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.468G>T	7.37:g.150731368G>T	ENSP00000297504:p.Leu156Phe		A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L156F	ENST00000297504.6	37	c.468		7	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383157	0.42207	.	.	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578;ENST00000356058;ENST00000477719;ENST00000477092	D;D;D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65	5.02	1.15	0.20763	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.062770	0.64402	D	0.000005	T	0.79233	0.4411	N	0.12527	0.23	0.41275	D	0.986877	B;B;B;B;B;P	0.35700	0.022;0.062;0.117;0.05;0.363;0.516	B;B;B;B;B;B	0.39904	0.047;0.123;0.208;0.075;0.313;0.313	T	0.67534	-0.5646	10	0.33940	T	0.23	-2.3352	4.2364	0.10627	0.3375:0.0:0.5126:0.1499	.	51;139;156;139;139;176	G3XAP3;A5D8W3;Q9NUT2;Q9NUT2-2;C9JTY4;E7ENE8	.;.;ABCB8_HUMAN;.;.;.	F	139;122;156;51;139;176;139;139	ENSP00000351717:L139F;ENSP00000297504:L156F;ENSP00000438776:L51F;ENSP00000418271:L139F;ENSP00000348353:L176F;ENSP00000419891:L139F;ENSP00000419558:L139F	ENSP00000297504:L156F	L	+	3	2	ABCB8	150362301	1.000000	0.71417	0.444000	0.26895	0.972000	0.66771	1.821000	0.39041	-0.061000	0.13110	0.561000	0.74099	TTG	ABCB8	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000197150		0.587	ABCB8-003	KNOWN	basic	protein_coding	ABCB8	HGNC	protein_coding	OTTHUMT00000351733.2	119	0.83	1	G	NM_007188		150731368	150731368	+1	no_errors	ENST00000297504	ensembl	human	known	69_37n	missense	154	18.09	34	SNP	0.979	T
ABCC8	6833	genome.wustl.edu	37	11	17452559	17452559	+	Intron	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:17452559C>A	ENST00000389817.3	-	12	1740				ABCC8_ENST00000302539.4_Intron|ABCC8_ENST00000528202.1_5'UTR			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8						carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	TGGGTCCCTCCCACACTGGAA	0.582																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.1672-53G>T	11.37:g.17452559C>A			A6NMX8|E3UYX6|O75948|Q16583	RNA	SNP	-	NULL	ENST00000389817.3	37	NULL	CCDS31437.1	11																																																																																			ABCC8	-	-	ENSG00000006071		0.582	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	58	0.00	0	C	NM_000352		17452559	17452559	-1	no_errors	ENST00000528202	ensembl	human	putative	69_37n	rna	46	13.21	7	SNP	0.019	A
ABCF3	55324	genome.wustl.edu	37	3	183904018	183904018	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:183904018T>C	ENST00000429586.2	+	1	208	c.23T>C	c.(22-24)cTg>cCg	p.L8P	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.L8P	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	8					defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCGAAATCCTGCGGAGCGAG	0.652																																						dbGAP											0													67.0	65.0	66.0					3																	183904018		2203	4300	6503	-	-	-	SO:0001583	missense	0			U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.23T>C	3.37:g.183904018T>C	ENSP00000411471:p.Leu8Pro		A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L8P	ENST00000429586.2	37	c.23	CCDS3254.1	3	.	.	.	.	.	.	.	.	.	.	T	29.8	5.037867	0.93630	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.93953	-3.29;-3.32	5.39	5.39	0.77823	.	0.081357	0.50627	D	0.000103	D	0.96156	0.8747	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.70935	0.971;0.935	D	0.96644	0.9476	10	0.87932	D	0	-10.603	14.5924	0.68378	0.0:0.0:0.0:1.0	.	8;8	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	P	8	ENSP00000411471:L8P;ENSP00000292808:L8P	ENSP00000292808:L8P	L	+	2	0	ABCF3	185386712	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.053000	0.76641	2.037000	0.60232	0.379000	0.24179	CTG	ABCF3	-	NULL	ENSG00000161204		0.652	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCF3	HGNC	protein_coding	OTTHUMT00000346047.1	63	0.00	0	T	NM_018358		183904018	183904018	+1	no_errors	ENST00000429586	ensembl	human	known	69_37n	missense	103	14.88	18	SNP	1.000	C
ABCG1	9619	genome.wustl.edu	37	21	43711694	43711694	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr21:43711694G>A	ENST00000361802.2	+	13	1762	c.1617G>A	c.(1615-1617)gcG>gcA	p.A539A	ABCG1_ENST00000398449.3_Silent_p.A527A|ABCG1_ENST00000347800.2_Silent_p.A524A|ABCG1_ENST00000340588.4_Silent_p.A647A|ABCG1_ENST00000343687.3_Silent_p.A538A|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Silent_p.A529A|ABCG1_ENST00000398437.1_Silent_p.A685A	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	539	ABC transmembrane type-2.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TGTTTGCCGCGCTGGGCACCA	0.642																																						dbGAP											0													86.0	71.0	76.0					21																	43711694		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1617G>A	21.37:g.43711694G>A			Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	pfam_ABC_2_trans	p.A275T	ENST00000361802.2	37	c.823	CCDS13682.1	21	.	.	.	.	.	.	.	.	.	.	G	4.981	0.182257	0.09495	.	.	ENSG00000160179	ENST00000489035;ENST00000469119;ENST00000482161	.	.	.	4.27	-8.53	0.00916	.	0.061993	0.64402	D	0.000005	T	0.34308	0.0893	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56643	-0.7945	5	.	.	.	-23.6787	1.7339	0.02937	0.3627:0.2067:0.0763:0.3543	.	.	.	.	T	275;263;263	.	.	A	+	1	0	ABCG1	42584763	0.000000	0.05858	0.007000	0.13788	0.657000	0.38888	-3.001000	0.00652	-3.784000	0.00107	-1.058000	0.02302	GCT	ABCG1	-	pfam_ABC_2_trans	ENSG00000160179		0.642	ABCG1-006	KNOWN	basic|CCDS	protein_coding	ABCG1	HGNC	protein_coding	OTTHUMT00000195318.2	163	0.00	0	G	NM_207174		43711694	43711694	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000489035	ensembl	human	putative	69_37n	missense	213	14.80	37	SNP	0.001	A
ABHD16A	7920	genome.wustl.edu	37	6	31669105	31669105	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:31669105A>G	ENST00000395952.3	-	3	364	c.202T>C	c.(202-204)Tgg>Cgg	p.W68R	MIR4646_ENST00000580775.1_RNA|ABHD16A_ENST00000538874.1_Intron|ABHD16A_ENST00000375842.4_5'UTR|ABHD16A_ENST00000440843.2_Intron|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	68						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						GAGATGGACCAGAATACTGAA	0.483																																						dbGAP											0													82.0	70.0	74.0					6																	31669105		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"""Abhydrolase domain containing"""	13921	protein-coding gene	gene with protein product		142620	"""HLA-B associated transcript 5"""	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.202T>C	6.37:g.31669105A>G	ENSP00000379282:p.Trp68Arg		A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Missense_Mutation	SNP	pfam_AB_hydrolase_1	p.W68R	ENST00000395952.3	37	c.202	CCDS4713.1	6	.	.	.	.	.	.	.	.	.	.	A	21.4	4.148249	0.78001	.	.	ENSG00000204427	ENST00000395952	.	.	.	5.38	5.38	0.77491	.	0.127915	0.56097	D	0.000021	T	0.68860	0.3047	M	0.73962	2.25	0.80722	D	1	D	0.64830	0.994	P	0.58520	0.84	T	0.74813	-0.3537	9	0.87932	D	0	-14.9343	13.6359	0.62223	1.0:0.0:0.0:0.0	.	68	O95870	ABHGA_HUMAN	R	68	.	ENSP00000379282:W68R	W	-	1	0	ABHD16A	31777084	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.204000	0.77872	2.179000	0.69175	0.459000	0.35465	TGG	ABHD16A	-	NULL	ENSG00000204427		0.483	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD16A	HGNC	protein_coding	OTTHUMT00000076342.4	128	0.00	0	A			31669105	31669105	-1	no_errors	ENST00000395952	ensembl	human	known	69_37n	missense	142	22.83	42	SNP	1.000	G
ABHD16B	140701	genome.wustl.edu	37	20	62494010	62494010	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:62494010C>T	ENST00000369916.3	+	1	1445	c.1117C>T	c.(1117-1119)Cgc>Tgc	p.R373C	TPD52L2_ENST00000369927.4_5'Flank|TPD52L2_ENST00000217121.5_5'Flank|TPD52L2_ENST00000351424.4_5'Flank|TPD52L2_ENST00000346249.4_5'Flank|TPD52L2_ENST00000358548.4_5'Flank|TPD52L2_ENST00000348257.5_5'Flank|C20ORF135_ENST00000601296.1_5'Flank|TPD52L2_ENST00000352482.4_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	373							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						CCGCTGGCTGCGCGCTGGCAG	0.716																																						dbGAP											0													7.0	8.0	8.0					20																	62494010		2041	3954	5995	-	-	-	SO:0001583	missense	0				CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"""Abhydrolase domain containing"""	16128	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 135"""	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.1117C>T	20.37:g.62494010C>T	ENSP00000358932:p.Arg373Cys			Missense_Mutation	SNP	pfam_AB_hydrolase_1	p.R373C	ENST00000369916.3	37	c.1117	CCDS13539.1	20	.	.	.	.	.	.	.	.	.	.	C	15.03	2.710897	0.48517	.	.	ENSG00000183260	ENST00000369916	T	0.45668	0.89	5.04	4.04	0.47022	.	0.467586	0.20062	N	0.100069	T	0.39759	0.1090	N	0.08118	0	0.44221	D	0.997059	D	0.62365	0.991	P	0.61658	0.892	T	0.46076	-0.9217	10	0.62326	D	0.03	-10.5832	12.6123	0.56558	0.0:0.8316:0.1684:0.0	.	373	Q9H3Z7	ABHGB_HUMAN	C	373	ENSP00000358932:R373C	ENSP00000358932:R373C	R	+	1	0	ABHD16B	61964454	0.879000	0.30193	0.952000	0.39060	0.202000	0.24057	1.031000	0.30165	2.341000	0.79615	0.591000	0.81541	CGC	ABHD16B	-	NULL	ENSG00000183260		0.716	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD16B	HGNC	protein_coding	OTTHUMT00000080254.1	27	0.00	0	C			62494010	62494010	+1	no_errors	ENST00000369916	ensembl	human	known	69_37n	missense	44	18.52	10	SNP	0.913	T
ACACA	31	genome.wustl.edu	37	17	35478306	35478306	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:35478306T>C	ENST00000394406.2	-	50	6324	c.6134A>G	c.(6133-6135)aAc>aGc	p.N2045S	ACACA_ENST00000360679.3_Missense_Mutation_p.N1987S|ACACA_ENST00000353139.5_Missense_Mutation_p.N2082S|ACACA_ENST00000361253.5_Missense_Mutation_p.N171S|ACACA_ENST00000335166.5_Missense_Mutation_p.N1967S	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2045	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GCCTCTCCAGTTGGCAAAGAC	0.562																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	dbGAP											0													86.0	84.0	84.0					17																	35478306		2203	4300	6503	-	-	-	SO:0001583	missense	0			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.6134A>G	17.37:g.35478306T>C	ENSP00000377928:p.Asn2045Ser		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.N2082S	ENST00000394406.2	37	c.6245	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	T	26.4	4.736750	0.89482	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	D;D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9;-4.9	5.2	5.2	0.72013	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.98982	0.9653	M	0.86740	2.835	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.998;0.999;0.999	D	0.99690	1.1001	10	0.62326	D	0.03	-18.7401	15.3387	0.74280	0.0:0.0:0.0:1.0	.	83;744;2082;2045;1987	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	S	2082;1987;2045;2069;1967;744;171	ENSP00000344789:N2082S;ENSP00000353898:N1987S;ENSP00000377928:N2045S;ENSP00000335323:N1967S;ENSP00000354565:N171S	ENSP00000335323:N1967S	N	-	2	0	ACACA	32552419	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.993000	0.88291	2.078000	0.62432	0.391000	0.25812	AAC	ACACA	-	pfam_Carboxyl_trans,pfscan_COA_CT_C	ENSG00000132142		0.562	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	158	0.00	0	T	NM_198836		35478306	35478306	-1	no_errors	ENST00000353139	ensembl	human	known	69_37n	missense	36	23.40	11	SNP	1.000	C
ACE	1636	genome.wustl.edu	37	17	61568598	61568598	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:61568598A>G	ENST00000290866.4	+	19	2792	c.2768A>G	c.(2767-2769)gAg>gGg	p.E923G	ACE_ENST00000577647.1_Missense_Mutation_p.E349G|ACE_ENST00000413513.3_Missense_Mutation_p.E349G|ACE_ENST00000490216.2_Missense_Mutation_p.E349G|ACE_ENST00000421982.2_Missense_Mutation_p.E169G|ACE_ENST00000290863.6_Missense_Mutation_p.E349G|ACE_ENST00000428043.1_Missense_Mutation_p.E923G	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	923	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ATGTTTAAGGAGGCTGATGAT	0.632																																						dbGAP											0													59.0	59.0	59.0					17																	61568598		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.2768A>G	17.37:g.61568598A>G	ENSP00000290866:p.Glu923Gly		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.E923G	ENST00000290866.4	37	c.2768	CCDS11637.1	17	.	.	.	.	.	.	.	.	.	.	A	11.98	1.801108	0.31869	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.63426	0.2510	M	0.82193	2.58	0.58432	D	0.999993	B;P;P;D	0.89917	0.39;0.888;0.926;1.0	P;P;P;D	0.77004	0.606;0.661;0.587;0.989	T	0.69698	-0.5075	10	0.72032	D	0.01	-34.2507	15.2126	0.73238	1.0:0.0:0.0:0.0	.	169;349;349;923	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	G	923;923;349;349;169	ENSP00000290866:E923G;ENSP00000397593:E923G;ENSP00000290863:E349G;ENSP00000392247:E349G;ENSP00000387760:E169G	ENSP00000290863:E349G	E	+	2	0	ACE	58922330	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	5.060000	0.64312	1.975000	0.57531	0.459000	0.35465	GAG	ACE	-	pfam_Peptidase_M2	ENSG00000159640		0.632	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE	HGNC	protein_coding	OTTHUMT00000337675.2	83	0.00	0	A			61568598	61568598	+1	no_errors	ENST00000290866	ensembl	human	known	69_37n	missense	89	25.21	30	SNP	1.000	G
ACIN1	22985	genome.wustl.edu	37	14	23533631	23533631	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:23533631C>T	ENST00000262710.1	-	11	2876	c.2549G>A	c.(2548-2550)cGc>cAc	p.R850H	ACIN1_ENST00000397341.3_Missense_Mutation_p.R92H|ACIN1_ENST00000605057.1_Missense_Mutation_p.R792H|ACIN1_ENST00000555053.1_Missense_Mutation_p.R849H|ACIN1_ENST00000338631.6_Missense_Mutation_p.R123H|ACIN1_ENST00000357481.2_Missense_Mutation_p.R92H|ACIN1_ENST00000557515.1_Missense_Mutation_p.R91H|ACIN1_ENST00000457657.1_Missense_Mutation_p.R810H	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	850					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGCTCCCCAGCGTCGTTTCCG	0.567																																						dbGAP											0													151.0	149.0	149.0					14																	23533631		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2549G>A	14.37:g.23533631C>T	ENSP00000262710:p.Arg850His		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.R850H	ENST00000262710.1	37	c.2549	CCDS9587.1	14	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644174	0.87859	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053;ENST00000555566	T;T;T;T;T;T	0.41065	3.36;3.36;1.01;1.02;3.36;3.39	5.4	4.51	0.55191	.	0.000000	0.37715	N	0.001967	T	0.59487	0.2197	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.998;0.999;0.998	T	0.62558	-0.6829	10	0.66056	D	0.02	-6.4134	12.9143	0.58197	0.0:0.921:0.0:0.079	.	849;850;810;123;92	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	H	91;123;92;850;810;92;849;92	ENSP00000345541:R123H;ENSP00000350073:R92H;ENSP00000262710:R850H;ENSP00000405677:R810H;ENSP00000380502:R92H;ENSP00000451328:R849H	ENSP00000262710:R850H	R	-	2	0	ACIN1	22603471	1.000000	0.71417	0.976000	0.42696	0.994000	0.84299	6.383000	0.73172	1.510000	0.48803	0.563000	0.77884	CGC	ACIN1	-	NULL	ENSG00000100813		0.567	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3	469	0.00	0	C	NM_014977		23533631	23533631	-1	no_errors	ENST00000262710	ensembl	human	known	69_37n	missense	484	14.79	84	SNP	1.000	T
ACOX2	8309	genome.wustl.edu	37	3	58503000	58503000	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:58503000C>T	ENST00000302819.5	-	13	2074	c.1783G>A	c.(1783-1785)Gcc>Acc	p.A595T	ACOX2_ENST00000459701.2_Missense_Mutation_p.A581T|ACOX2_ENST00000481527.1_5'UTR	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	595					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		GACAGGAAGGCGTCATGGAGA	0.527																																						dbGAP											0													128.0	113.0	118.0					3																	58503000		2203	4300	6503	-	-	-	SO:0001583	missense	0			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1783G>A	3.37:g.58503000C>T	ENSP00000307697:p.Ala595Thr		A6NF16|B2R8U5	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	p.A595T	ENST00000302819.5	37	c.1783	CCDS33775.1	3	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127891	0.56721	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	T;T	0.41400	1.0;1.0	4.9	3.09	0.35607	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.082765	0.50627	D	0.000105	T	0.20210	0.0486	N	0.04880	-0.145	0.23287	N	0.997977	P	0.39535	0.677	B	0.36244	0.22	T	0.10636	-1.0621	10	0.51188	T	0.08	-23.5476	9.6535	0.39912	0.1439:0.7795:0.0:0.0766	.	595	Q99424	ACOX2_HUMAN	T	581;595	ENSP00000418562:A581T;ENSP00000307697:A595T	ENSP00000307697:A595T	A	-	1	0	ACOX2	58478040	0.985000	0.35326	0.998000	0.56505	0.770000	0.43624	2.054000	0.41335	1.382000	0.46385	-0.238000	0.12139	GCC	ACOX2	-	pfam_Acyl-CoA_oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase	ENSG00000168306		0.527	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX2	HGNC	protein_coding	OTTHUMT00000353541.1	144	0.68	1	C			58503000	58503000	-1	no_errors	ENST00000302819	ensembl	human	known	69_37n	missense	49	15.25	9	SNP	1.000	T
ACSS1	84532	genome.wustl.edu	37	20	24994688	24994688	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:24994688G>A	ENST00000323482.4	-	9	1440	c.1361C>T	c.(1360-1362)gCa>gTa	p.A454V	ACSS1_ENST00000542618.1_Missense_Mutation_p.A333V|ACSS1_ENST00000432802.2_Missense_Mutation_p.A454V|ACSS1_ENST00000537502.1_Missense_Mutation_p.A371V|ACSS1_ENST00000484396.1_5'Flank	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	454					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGGCCGTGGTGCGATGCAGAT	0.572																																						dbGAP											0													78.0	56.0	64.0					20																	24994688		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.1361C>T	20.37:g.24994688G>A	ENSP00000316924:p.Ala454Val		B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig	p.A454V	ENST00000323482.4	37	c.1361	CCDS13167.1	20	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776965	0.90195	.	.	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000537502;ENST00000432802;ENST00000542618	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	4.85	4.85	0.62838	AMP-dependent synthetase/ligase (1);	0.163737	0.53938	D	0.000051	T	0.58935	0.2157	M	0.63208	1.945	0.58432	D	0.999999	D;P;P;P	0.56746	0.977;0.76;0.798;0.929	P;P;P;P	0.59703	0.862;0.598;0.72;0.744	T	0.63278	-0.6673	10	0.72032	D	0.01	-52.3188	16.9007	0.86113	0.0:0.0:1.0:0.0	.	249;452;454;371	E9PC79;Q9NUB1-2;Q9NUB1;Q6ZV30	.;.;ACS2L_HUMAN;.	V	454;249;371;454;333	ENSP00000316924:A454V;ENSP00000439304:A371V;ENSP00000388793:A454V;ENSP00000437657:A333V	ENSP00000316924:A454V	A	-	2	0	ACSS1	24942688	1.000000	0.71417	0.097000	0.21041	0.792000	0.44763	9.281000	0.95811	2.380000	0.81148	0.563000	0.77884	GCA	ACSS1	-	pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig	ENSG00000154930		0.572	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS1	HGNC	protein_coding	OTTHUMT00000078386.2	192	0.00	0	G	NM_032501		24994688	24994688	-1	no_errors	ENST00000323482	ensembl	human	known	69_37n	missense	164	21.53	45	SNP	0.919	A
ACTL6A	86	genome.wustl.edu	37	3	179298440	179298440	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:179298440G>A	ENST00000429709.2	+	9	994	c.781G>A	c.(781-783)Gat>Aat	p.D261N	ACTL6A_ENST00000392662.1_Missense_Mutation_p.D219N|ACTL6A_ENST00000467615.1_3'UTR|RP11-15L13.4_ENST00000608818.1_RNA|ACTL6A_ENST00000450518.2_Missense_Mutation_p.D219N	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	261					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TGTTATCCAGGATTTTCAAGC	0.269																																						dbGAP											0													66.0	64.0	65.0					3																	179298440		2202	4288	6490	-	-	-	SO:0001583	missense	0			AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.781G>A	3.37:g.179298440G>A	ENSP00000397552:p.Asp261Asn		B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.D261N	ENST00000429709.2	37	c.781	CCDS3231.1	3	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427600	0.83667	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662	D;D;D	0.94537	-3.45;-3.45;-3.45	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.96555	0.8876	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	D	0.96608	0.9450	10	0.87932	D	0	.	12.7829	0.57487	0.0748:0.0:0.9252:0.0	.	261	O96019	ACL6A_HUMAN	N	261;219;219	ENSP00000397552:D261N;ENSP00000394014:D219N;ENSP00000376430:D219N	ENSP00000376430:D219N	D	+	1	0	ACTL6A	180781134	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.136000	0.71703	2.618000	0.88619	0.563000	0.77884	GAT	ACTL6A	-	pfam_Actin-like,smart_Actin-like	ENSG00000136518		0.269	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL6A	HGNC	protein_coding	OTTHUMT00000349599.1	143	0.00	0	G	NM_004301		179298440	179298440	+1	no_errors	ENST00000429709	ensembl	human	known	69_37n	missense	57	26.92	21	SNP	1.000	A
ACTN2	88	genome.wustl.edu	37	1	236912433	236912433	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:236912433A>T	ENST00000366578.4	+	14	1691	c.1525A>T	c.(1525-1527)Aaa>Taa	p.K509*	ACTN2_ENST00000542672.1_Nonsense_Mutation_p.K509*|ACTN2_ENST00000546208.1_Nonsense_Mutation_p.K3*	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	509					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGAATGGAGAAATTGCTAGA	0.393																																						dbGAP											0													97.0	97.0	97.0					1																	236912433		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1525A>T	1.37:g.236912433A>T	ENSP00000355537:p.Lys509*		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.K509*	ENST00000366578.4	37	c.1525	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	A	41	8.811355	0.98962	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6977	0.77512	1.0:0.0:0.0:0.0	.	.	.	.	X	509;509;3;278	.	ENSP00000355537:K509X	K	+	1	0	ACTN2	234979056	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.307000	0.96226	2.101000	0.63845	0.533000	0.62120	AAA	ACTN2	-	NULL	ENSG00000077522		0.393	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	137	0.00	0	A	NM_001103		236912433	236912433	+1	no_errors	ENST00000366578	ensembl	human	known	69_37n	nonsense	187	16.44	37	SNP	1.000	T
ACTR8	93973	genome.wustl.edu	37	3	53902823	53902823	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:53902823C>T	ENST00000335754.3	-	13	1898	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	ACTR8_ENST00000488802.1_5'UTR|ACTR8_ENST00000482349.1_Missense_Mutation_p.E489K|ACTR8_ENST00000231909.7_Missense_Mutation_p.E305K	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	600					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		ATCCACAGTTCCTGTGTTGTA	0.532																																						dbGAP											0													97.0	84.0	88.0					3																	53902823		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.1798G>A	3.37:g.53902823C>T	ENSP00000336842:p.Glu600Lys		B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.E600K	ENST00000335754.3	37	c.1798	CCDS2875.1	3	.	.	.	.	.	.	.	.	.	.	C	37	6.062715	0.97246	.	.	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000231909	D;D;D	0.93906	-3.31;-3.31;-3.31	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.97331	0.9127	M	0.87097	2.86	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.994	D	0.97388	0.9987	10	0.87932	D	0	-26.8674	20.3011	0.98612	0.0:1.0:0.0:0.0	.	600;305	Q9H981;Q9H981-3	ARP8_HUMAN;.	K	600;489;305	ENSP00000336842:E600K;ENSP00000419429:E489K;ENSP00000231909:E305K	ENSP00000231909:E305K	E	-	1	0	ACTR8	53877863	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.367000	0.79558	2.804000	0.96469	0.650000	0.86243	GAA	ACTR8	-	pfam_Actin-like,smart_Actin-like	ENSG00000113812		0.532	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR8	HGNC	protein_coding	OTTHUMT00000350562.2	338	0.00	0	C	NM_022899		53902823	53902823	-1	no_errors	ENST00000335754	ensembl	human	known	69_37n	missense	103	13.33	16	SNP	1.000	T
ADCY2	108	genome.wustl.edu	37	5	7414700	7414700	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:7414700T>C	ENST00000338316.4	+	2	314	c.225T>C	c.(223-225)caT>caC	p.H75H		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	75					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTGAAGACCATGTGGCGTTTC	0.398																																						dbGAP											0													237.0	226.0	230.0					5																	7414700		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.225T>C	5.37:g.7414700T>C			B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.H75	ENST00000338316.4	37	c.225	CCDS3872.2	5																																																																																			ADCY2	-	NULL	ENSG00000078295		0.398	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2	292	0.00	0	T	NM_020546		7414700	7414700	+1	no_errors	ENST00000338316	ensembl	human	known	69_37n	silent	332	18.83	77	SNP	0.792	C
RALGAPB	57148	genome.wustl.edu	37	20	37209913	37209913	+	IGR	SNP	C	C	A	rs371908126		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:37209913C>A	ENST00000262879.6	+	0	8661				ADIG_ENST00000537425.1_Missense_Mutation_p.P2Q|ADIG_ENST00000373348.3_Missense_Mutation_p.P7Q			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)						activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCTTTGATGCCGCTGGTGAAC	0.567																																						dbGAP											0													161.0	166.0	165.0					20																	37209913		1979	4152	6131	-	-	-	SO:0001628	intergenic_variant	0			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270		20.37:g.37209913C>A			A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	NULL	p.P2Q	ENST00000262879.6	37	c.5	CCDS13305.1	20	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314806	0.81358	.	.	ENSG00000182035	ENST00000537425;ENST00000373348	.	.	.	5.15	5.15	0.70609	.	0.000000	0.35124	N	0.003431	T	0.71651	0.3365	.	.	.	0.33025	D	0.529302	P	0.46952	0.887	P	0.58266	0.836	T	0.80600	-0.1310	8	0.87932	D	0	.	14.4866	0.67622	0.0:1.0:0.0:0.0	.	7	Q0VDE8	ADIG_HUMAN	Q	2;7	.	ENSP00000362445:P7Q	P	+	2	0	ADIG	36643327	0.992000	0.36948	0.957000	0.39632	0.897000	0.52465	3.896000	0.56266	2.538000	0.85594	0.655000	0.94253	CCG	ADIG	-	NULL	ENSG00000182035		0.567	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	ADIG	HGNC	protein_coding	OTTHUMT00000079191.1	522	0.00	0	C	NM_020336		37209913	37209913	+1	no_errors	ENST00000537425	ensembl	human	known	69_37n	missense	270	12.90	40	SNP	0.979	A
ADRBK1	156	genome.wustl.edu	37	11	67048216	67048216	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:67048216C>T	ENST00000308595.5	+	7	807	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	ADRBK1_ENST00000526285.1_Missense_Mutation_p.R173W	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	173	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.			SDKFTRFCQWKNVELNIH -> RISSHGFASGRMWSSTST (in Ref. 3; AAB60689). {ECO:0000305}.	activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TAAGTTCACACGGTTTTGCCA	0.592																																						dbGAP											0													199.0	193.0	195.0					11																	67048216		2200	4295	6495	-	-	-	SO:0001583	missense	0			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.517C>T	11.37:g.67048216C>T	ENSP00000312262:p.Arg173Trp		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.R173W	ENST00000308595.5	37	c.517	CCDS8156.1	11	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937215	0.73557	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.03124	4.04;4.04	4.68	3.76	0.43208	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.48286	D	0.000194	T	0.17789	0.0427	M	0.80183	2.485	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00664	-1.1620	10	0.87932	D	0	-6.3334	12.5774	0.56371	0.3005:0.6995:0.0:0.0	.	173;173	P25098;E9PRV7	ARBK1_HUMAN;.	W	173	ENSP00000312262:R173W;ENSP00000434126:R173W	ENSP00000312262:R173W	R	+	1	2	ADRBK1	66804792	0.797000	0.28877	0.867000	0.34043	0.950000	0.60333	1.495000	0.35627	1.309000	0.44985	0.655000	0.94253	CGG	ADRBK1	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_GPCR_kinase	ENSG00000173020		0.592	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK1	HGNC	protein_coding	OTTHUMT00000393153.1	226	0.00	0	C	NM_001619		67048216	67048216	+1	no_errors	ENST00000308595	ensembl	human	known	69_37n	missense	246	14.83	43	SNP	0.995	T
AGPAT9	84803	genome.wustl.edu	37	4	84457806	84457806	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:84457806C>A	ENST00000395226.2	+	2	249	c.31C>A	c.(31-33)Ctt>Att	p.L11I	AGPAT9_ENST00000264409.4_Missense_Mutation_p.L11I	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	11					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CGGGAAGATCCTTTCCACCTG	0.607																																						dbGAP											0													89.0	69.0	76.0					4																	84457806		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	28157	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, theta"""	610958	"""1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"""			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.31C>A	4.37:g.84457806C>A	ENSP00000378651:p.Leu11Ile		Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	pfam_Acyltransferase,smart_Acyltransferase	p.L11I	ENST00000395226.2	37	c.31	CCDS3606.1	4	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275687	0.40294	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	T;T	0.46451	0.87;0.87	4.68	0.75	0.18387	.	0.082504	0.48767	D	0.000172	T	0.33323	0.0859	M	0.62723	1.935	0.28603	N	0.909067	B	0.12630	0.006	B	0.06405	0.002	T	0.22103	-1.0226	10	0.23891	T	0.37	-1.8102	7.2143	0.25951	0.0:0.5894:0.2578:0.1528	.	11	Q53EU6	GPAT3_HUMAN	I	11	ENSP00000378651:L11I;ENSP00000264409:L11I	ENSP00000264409:L11I	L	+	1	0	AGPAT9	84676830	.	.	0.983000	0.44433	0.869000	0.49853	.	.	0.084000	0.17077	0.456000	0.33151	CTT	AGPAT9	-	NULL	ENSG00000138678		0.607	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT9	HGNC	protein_coding	OTTHUMT00000252821.3	77	0.00	0	C	NM_032717		84457806	84457806	+1	no_errors	ENST00000264409	ensembl	human	known	69_37n	missense	124	20.00	31	SNP	0.786	A
AFF1	4299	genome.wustl.edu	37	4	88052236	88052236	+	Splice_Site	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:88052236C>T	ENST00000307808.6	+	16	3365	c.2945C>T	c.(2944-2946)aCg>aTg	p.T982M	AFF1_ENST00000395146.4_Splice_Site_p.T989M|AFF1_ENST00000544085.1_Splice_Site_p.T620M	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	982					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CTCCTGCAGACGGACAGGGTT	0.458																																						dbGAP											0													149.0	139.0	142.0					4																	88052236		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2944-1C>T	4.37:g.88052236C>T			B4DTU1|E9PBM3	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.T989M	ENST00000307808.6	37	c.2966	CCDS3616.1	4	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848843	0.32699	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.63913	-0.07;-0.07;-0.07	5.66	3.92	0.45320	.	0.816289	0.11443	N	0.563598	T	0.43743	0.1261	N	0.14661	0.345	0.22851	N	0.998651	B;B;B	0.22346	0.068;0.068;0.068	B;B;B	0.16722	0.016;0.016;0.016	T	0.26360	-1.0105	10	0.27785	T	0.31	-7.5766	9.8878	0.41272	0.0:0.771:0.0:0.229	.	989;982;982	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	M	989;982;620	ENSP00000378578:T989M;ENSP00000305689:T982M;ENSP00000440843:T620M	ENSP00000305689:T982M	T	+	2	0	AFF1	88271260	0.014000	0.17966	0.864000	0.33941	0.607000	0.37147	0.466000	0.22019	0.725000	0.32318	0.655000	0.94253	ACG	AFF1	-	pfam_TF_AF4/FMR2	ENSG00000172493		0.458	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AFF1	HGNC	protein_coding	OTTHUMT00000253053.3	279	0.36	1	C	NM_005935	Missense_Mutation	88052236	88052236	+1	no_errors	ENST00000395146	ensembl	human	known	69_37n	missense	49	14.04	8	SNP	0.752	T
AGT	183	genome.wustl.edu	37	1	230839055	230839055	+	Frame_Shift_Del	DEL	A	A	-	rs387906578		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:230839055delA	ENST00000366667.4	-	5	1504	c.1290delT	c.(1288-1290)tttfs	p.F430fs		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	430					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)		CTTCAAGCTCAAAAAAAATGC	0.562																																						dbGAP											0			GRCh37	CD065661	AGT	D							96.0	93.0	94.0					1																	230839055		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	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.1290delT	1.37:g.230839055delA	ENSP00000355627:p.Phe430fs		Q16358|Q16359|Q96F91	Frame_Shift_Del	DEL	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom,prints_Angiotensngn	p.F430fs	ENST00000366667.4	37	c.1290	CCDS1585.1	1																																																																																			AGT	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000135744		0.562	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGT	HGNC	protein_coding	OTTHUMT00000092102.1	129	0.00	0	A	NM_000029		230839055	230839055	-1	no_errors	ENST00000366667	ensembl	human	known	69_37n	frame_shift_del	191	19.07	45	DEL	0.354	-
AHNAK	79026	genome.wustl.edu	37	11	62289327	62289327	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:62289327delT	ENST00000378024.4	-	5	12836	c.12562delA	c.(12562-12564)atgfs	p.M4188fs	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4188					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACTTTGGGCATTTTTAAGTGC	0.542																																						dbGAP											0													204.0	208.0	207.0					11																	62289327		2202	4299	6501	-	-	-	SO:0001589	frameshift_variant	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12562delA	11.37:g.62289327delT	ENSP00000367263:p.Met4188fs		A1A586	Frame_Shift_Del	DEL	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.M4188fs	ENST00000378024.4	37	c.12562	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.542	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	238	0.00	0	T	NM_024060		62289327	62289327	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	frame_shift_del	120	15.28	22	DEL	0.997	-
AHNAK	79026	genome.wustl.edu	37	11	62293764	62293764	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:62293764T>C	ENST00000378024.4	-	5	8399	c.8125A>G	c.(8125-8127)Atg>Gtg	p.M2709V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2709					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATATCAGGCATGGAGATCTTG	0.463																																						dbGAP											0													196.0	194.0	194.0					11																	62293764		2202	4299	6501	-	-	-	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8125A>G	11.37:g.62293764T>C	ENSP00000367263:p.Met2709Val		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.M2709V	ENST00000378024.4	37	c.8125	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	t	14.56	2.572032	0.45798	.	.	ENSG00000124942	ENST00000378024	T	0.01745	4.66	4.65	4.65	0.58169	.	.	.	.	.	T	0.08088	0.0202	M	0.84156	2.68	0.29581	N	0.849135	P	0.45283	0.855	P	0.56514	0.8	T	0.06232	-1.0838	9	0.13853	T	0.58	-13.9546	13.7669	0.63002	0.0:0.0:0.0:1.0	.	2709	Q09666	AHNK_HUMAN	V	2709	ENSP00000367263:M2709V	ENSP00000367263:M2709V	M	-	1	0	AHNAK	62050340	0.947000	0.32204	0.996000	0.52242	0.648000	0.38561	0.993000	0.29680	1.728000	0.51552	0.392000	0.25879	ATG	AHNAK	-	NULL	ENSG00000124942		0.463	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	393	0.00	0	T	NM_024060		62293764	62293764	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	missense	198	30.28	86	SNP	1.000	C
AIRE	326	genome.wustl.edu	37	21	45717585	45717585	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr21:45717585G>A	ENST00000291582.5	+	14	1740	c.1613G>A	c.(1612-1614)cGt>cAt	p.R538H	AIRE_ENST00000355347.4_Missense_Mutation_p.R331H|PFKL_ENST00000349048.4_5'Flank|AIRE_ENST00000329347.4_3'UTR	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	538					humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		AGCATGGCCCGTCCGGCGGCC	0.657									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy		OREG0026249	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													35.0	36.0	36.0					21																	45717585		2201	4292	6493	-	-	-	SO:0001583	missense	0	Familial Cancer Database	APECED	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"""Zinc fingers, PHD-type"""	360	protein-coding gene	gene with protein product	"""autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"""	607358	"""autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"""	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.1613G>A	21.37:g.45717585G>A	ENSP00000291582:p.Arg538His	933	B2RP50|O43922|O43932|O75745	Missense_Mutation	SNP	pfam_Sp100,pfam_Znf_PHD-finger,pfam_SAND_dom,superfamily_Znf_FYVE_PHD,superfamily_SAND_dom-like,smart_SAND_dom,smart_Znf_PHD,prints_AIRE,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.R538H	ENST00000291582.5	37	c.1613	CCDS13706.1	21	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500485	0.85176	.	.	ENSG00000160224	ENST00000291582;ENST00000337909;ENST00000397994;ENST00000355347	T;T	0.78126	-1.15;-1.15	4.49	4.49	0.54785	.	0.000000	0.52532	D	0.000067	D	0.86703	0.5996	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	D	0.88224	0.2899	10	0.87932	D	0	-23.4602	13.0696	0.59053	0.0:0.0:1.0:0.0	.	341;538	B2RP50;O43918	.;AIRE_HUMAN	H	538;341;341;331	ENSP00000291582:R538H;ENSP00000347505:R331H	ENSP00000291582:R538H	R	+	2	0	AIRE	44542013	0.998000	0.40836	1.000000	0.80357	0.610000	0.37248	4.577000	0.60922	2.220000	0.72140	0.561000	0.74099	CGT	AIRE	-	NULL	ENSG00000160224		0.657	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIRE	HGNC	protein_coding	OTTHUMT00000195842.2	53	0.00	0	G			45717585	45717585	+1	no_errors	ENST00000291582	ensembl	human	known	69_37n	missense	81	35.20	44	SNP	1.000	A
AK9	221264	genome.wustl.edu	37	6	109980471	109980471	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:109980471C>A	ENST00000424296.2	-	7	666	c.590G>T	c.(589-591)gGa>gTa	p.G197V	AK9_ENST00000368948.2_Missense_Mutation_p.G197V|AK9_ENST00000285397.5_Missense_Mutation_p.G197V|AK9_ENST00000341338.6_5'UTR	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	197	Adenylate kinase 1.|LID 1. {ECO:0000250}.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										ttcctcttctccttttccgtc	0.368																																						dbGAP											0													129.0	125.0	126.0					6																	109980471		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.590G>T	6.37:g.109980471C>A	ENSP00000410186:p.Gly197Val		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Nonsense_Mutation	SNP	NULL	p.E85*	ENST00000424296.2	37	c.253	CCDS55048.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.876|6.876	0.531114|0.531114	0.13127|0.13127	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000524674|ENST00000424296;ENST00000368948;ENST00000285397;ENST00000448084;ENST00000532976	.|T;T;T;T;T	.|0.65364	.|-0.1;-0.15;-0.11;0.97;0.97	5.05|5.05	-0.947|-0.947	0.10382|0.10382	.|ATPase, AAA+ type, core (1);	.|2.991540	.|0.01180	.|N	.|0.007066	.|T	.|0.27697	.|0.0681	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|P;P	.|0.40360	.|0.617;0.714	.|B;B	.|0.36418	.|0.077;0.224	.|T	.|0.44877	.|-0.9299	.|9	.|.	.|.	.|.	-0.5237|-0.5237	3.5962|3.5962	0.08006|0.08006	0.1479:0.2245:0.4919:0.1357|0.1479:0.2245:0.4919:0.1357	.|.	.|197;197	.|Q5TCS8-2;Q5TCS8	.|.;AKD1_HUMAN	X|V	85|197;197;197;120;197	.|ENSP00000410186:G197V;ENSP00000357944:G197V;ENSP00000285397:G197V;ENSP00000407510:G120V;ENSP00000436325:G197V	.|.	E|G	-|-	1|2	0|0	AKD1|AKD1	110087164|110087164	0.003000|0.003000	0.15002|0.15002	0.606000|0.606000	0.28943|0.28943	0.024000|0.024000	0.10985|0.10985	-0.490000|-0.490000	0.06482|0.06482	0.038000|0.038000	0.15604|0.15604	-0.284000|-0.284000	0.09977|0.09977	GAG|GGA	AKD1	-	NULL	ENSG00000155085		0.368	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		306	0.00	0	C	NM_001145128		109980471	109980471	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000524674	ensembl	human	novel	69_37n	nonsense	78	12.22	11	SNP	0.977	A
AKAP12	9590	genome.wustl.edu	37	6	151671656	151671656	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:151671656C>G	ENST00000253332.1	+	3	2319	c.2130C>G	c.(2128-2130)gaC>gaG	p.D710E	AKAP12_ENST00000402676.2_Missense_Mutation_p.D710E|AKAP12_ENST00000354675.6_Missense_Mutation_p.D612E|AKAP12_ENST00000359755.5_Missense_Mutation_p.D605E			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	710					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGGGAGGAGACCACCAGAAAG	0.517																																					Melanoma(141;1616 1805 10049 24534 51979)	dbGAP											0													97.0	107.0	104.0					6																	151671656		2203	4300	6503	-	-	-	SO:0001583	missense	0			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2130C>G	6.37:g.151671656C>G	ENSP00000253332:p.Asp710Glu		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.D710E	ENST00000253332.1	37	c.2130	CCDS5229.1	6	.	.	.	.	.	.	.	.	.	.	C	5.174	0.217677	0.09810	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.05447	3.44;3.44;3.46;3.46	5.42	-2.91	0.05631	.	0.327939	0.22332	N	0.061444	T	0.00608	0.0020	N	0.19112	0.55	0.20307	N	0.999915	B;B;B	0.14012	0.009;0.009;0.005	B;B;B	0.11329	0.006;0.006;0.003	T	0.44590	-0.9318	10	0.02654	T	1	.	0.3089	0.00285	0.319:0.261:0.1657:0.2543	.	605;612;710	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	E	710;710;612;605	ENSP00000384537:D710E;ENSP00000253332:D710E;ENSP00000346702:D612E;ENSP00000352794:D605E	ENSP00000253332:D710E	D	+	3	2	AKAP12	151713349	0.000000	0.05858	0.021000	0.16686	0.060000	0.15804	0.063000	0.14410	-0.288000	0.09051	0.655000	0.94253	GAC	AKAP12	-	NULL	ENSG00000131016		0.517	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	HGNC	protein_coding	OTTHUMT00000042712.1	55	0.00	0	C			151671656	151671656	+1	no_errors	ENST00000253332	ensembl	human	known	69_37n	missense	43	10.20	5	SNP	0.002	G
AKR1B10	57016	genome.wustl.edu	37	7	134212576	134212577	+	5'UTR	INS	-	-	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:134212576_134212577insG	ENST00000359579.4	+	0	233_234				AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)						cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						ctagccttggcaacagtgcaag	0.515																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"""Aldo-keto reductases"""	382	protein-coding gene	gene with protein product	"""aldose reductase-like 1"", ""aldo-keto reductase family 1, member B11 (aldose reductase-like)"", ""aldose reductase-like peptide"", ""aldose reductase-related protein"", ""small intestine reductase"""	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.-87->G	7.37:g.134212576_134212577insG			A4D1P1|O75890|Q6FHF3|Q8IWZ1	RNA	INS	-	NULL	ENST00000359579.4	37	NULL	CCDS5832.1	7																																																																																			AKR1B10	-	-	ENSG00000198074		0.515	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1B10	HGNC	protein_coding	OTTHUMT00000339615.1	98	0.00	0	-	NM_020299		134212576	134212577	+1	no_errors	ENST00000475559	ensembl	human	known	69_37n	rna	23	11.54	3	INS	0.004:0.003	G
AKR1B10	57016	genome.wustl.edu	37	7	134212577	134212578	+	5'UTR	INS	-	-	CAG			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:134212577_134212578insCAG	ENST00000359579.4	+	0	234_235				AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)						cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						tagccttggcaacagtgcaaga	0.52																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"""Aldo-keto reductases"""	382	protein-coding gene	gene with protein product	"""aldose reductase-like 1"", ""aldo-keto reductase family 1, member B11 (aldose reductase-like)"", ""aldose reductase-like peptide"", ""aldose reductase-related protein"", ""small intestine reductase"""	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.-86->CAG	7.37:g.134212577_134212578insCAG			A4D1P1|O75890|Q6FHF3|Q8IWZ1	RNA	INS	-	NULL	ENST00000359579.4	37	NULL	CCDS5832.1	7																																																																																			AKR1B10	-	-	ENSG00000198074		0.520	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1B10	HGNC	protein_coding	OTTHUMT00000339615.1	101	0.00	0	-	NM_020299		134212577	134212578	+1	no_errors	ENST00000475559	ensembl	human	known	69_37n	rna	23	11.54	3	INS	0.003:0.004	CAG
AKR1C2	1646	genome.wustl.edu	37	10	5043771	5043771	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:5043771G>A	ENST00000380753.4	-	2	374	c.187C>T	c.(187-189)Ctg>Ttg	p.L63L	AKR1C2_ENST00000407674.1_Silent_p.L63L|AKR1C2_ENST00000455190.1_Silent_p.L63L|AKR1C2_ENST00000421196.3_Silent_p.L63L	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	63					cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway (GO:0007186)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|response to prostaglandin (GO:0034694)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin F receptor activity (GO:0004958)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					Ursodeoxycholic acid(DB01586)	CGGATGGCCAGTCCAACCTGC	0.443																																						dbGAP											0													139.0	121.0	127.0					10																	5043771		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L32592	CCDS7062.1, CCDS44350.1	10p15-p14	2014-01-29	2012-12-04		ENSG00000151632	ENSG00000151632	1.3.1.20, 1.1.1.213	"""Aldo-keto reductases"""	385	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III"""	600450	"""aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III)"", ""testicular 17,20-desmolase deficiency"""	DDH2, TDD		9716498, 21802064	Standard	NM_001354		Approved	DD, BABP, DD2, HAKRD, MCDR2	uc001iht.3	P52895	OTTHUMG00000017584	ENST00000380753.4:c.187C>T	10.37:g.5043771G>A			A8K2N9|B4DKR9|Q14133|Q5SR16|Q7M4N1|Q96A71	Silent	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.L63	ENST00000380753.4	37	c.187	CCDS7062.1	10																																																																																			AKR1C2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	ENSG00000151632		0.443	AKR1C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C2	HGNC	protein_coding	OTTHUMT00000046531.1	322	0.00	0	G	NM_001354		5043771	5043771	-1	no_errors	ENST00000380753	ensembl	human	known	69_37n	silent	81	10.99	10	SNP	0.181	A
ALDH1A3	220	genome.wustl.edu	37	15	101438317	101438317	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:101438317C>T	ENST00000329841.5	+	8	1342	c.810C>T	c.(808-810)tcC>tcT	p.S270S	ALDH1A3_ENST00000346623.6_Silent_p.S163S|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	270					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	AAGCTGCGTCCCGGAGCAATC	0.557																																						dbGAP											0													80.0	75.0	77.0					15																	101438317		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.810C>T	15.37:g.101438317C>T			Q6NT64	Silent	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.S270	ENST00000329841.5	37	c.810	CCDS10389.1	15																																																																																			ALDH1A3	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000184254		0.557	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A3	HGNC	protein_coding	OTTHUMT00000313620.2	93	0.00	0	C			101438317	101438317	+1	no_errors	ENST00000329841	ensembl	human	known	69_37n	silent	102	14.17	17	SNP	0.003	T
ALLC	55821	genome.wustl.edu	37	2	3743393	3743393	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:3743393G>A	ENST00000252505.3	+	8	760	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	219					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		AGACCTAGTGGCCATCGCTTT	0.438										HNSCC(21;0.051)																												dbGAP											0													88.0	89.0	89.0					2																	3743393		1887	4098	5985	-	-	-	SO:0001583	missense	0			AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.598G>A	2.37:g.3743393G>A	ENSP00000252505:p.Ala200Thr		Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase	p.A200T	ENST00000252505.3	37	c.598	CCDS46223.1	2	.	.	.	.	.	.	.	.	.	.	G	8.770	0.925628	0.18056	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.42	-1.69	0.08186	Galactose-binding domain-like (1);	0.322325	0.36854	N	0.002377	T	0.34774	0.0909	L	0.52206	1.635	0.09310	N	0.999997	B	0.15473	0.013	B	0.19391	0.025	T	0.26744	-1.0094	9	0.59425	D	0.04	-8.8013	5.4654	0.16639	0.3989:0.0:0.4294:0.1717	.	219	Q8N6M5	ALLC_HUMAN	T	200	.	ENSP00000252505:A200T	A	+	1	0	ALLC	3721268	0.987000	0.35691	0.002000	0.10522	0.301000	0.27625	0.612000	0.24283	-0.181000	0.10619	-0.258000	0.10820	GCC	ALLC	-	superfamily_Galactose-bd-like,tigrfam_Allantoicase	ENSG00000151360		0.438	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALLC	HGNC	protein_coding	OTTHUMT00000322855.1	151	0.00	0	G			3743393	3743393	+1	no_errors	ENST00000252505	ensembl	human	known	69_37n	missense	133	16.77	27	SNP	0.001	A
ALS2CR11	151254	genome.wustl.edu	37	2	202483705	202483705	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:202483705G>A	ENST00000286195.3	-	1	193	c.149C>T	c.(148-150)tCg>tTg	p.S50L	ALS2CR11_ENST00000439802.1_Missense_Mutation_p.S50L|ALS2CR11_ENST00000439140.1_Missense_Mutation_p.S50L|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.S50L	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	50										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						GTAAGGGACCGAAGAAGCCTC	0.632																																						dbGAP											0													77.0	74.0	75.0					2																	202483705		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.149C>T	2.37:g.202483705G>A	ENSP00000286195:p.Ser50Leu		C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.S50L	ENST00000286195.3	37	c.149	CCDS2349.1	2	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428278	0.43122	.	.	ENSG00000155754	ENST00000286195;ENST00000439802;ENST00000439140;ENST00000450242	T;T;T;T	0.59502	0.28;0.32;0.29;0.26	3.11	-1.04	0.10068	.	0.199907	0.24952	N	0.034287	T	0.42698	0.1214	L	0.56769	1.78	0.09310	N	1	B;B;B	0.21688	0.027;0.027;0.059	B;B;B	0.13407	0.005;0.005;0.009	T	0.39722	-0.9600	10	0.87932	D	0	.	0.6486	0.00823	0.2374:0.1897:0.3789:0.194	.	50;50;50	Q53TS8-2;E9PGG4;Q53TS8	.;.;AL2SA_HUMAN	L	50	ENSP00000286195:S50L;ENSP00000400672:S50L;ENSP00000409937:S50L;ENSP00000399016:S50L	ENSP00000286195:S50L	S	-	2	0	ALS2CR11	202191950	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.128000	0.10531	-0.234000	0.09782	-0.259000	0.10710	TCG	ALS2CR11	-	NULL	ENSG00000155754		0.632	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2	102	0.00	0	G	NM_152525		202483705	202483705	-1	no_errors	ENST00000286195	ensembl	human	known	69_37n	missense	123	14.58	21	SNP	0.000	A
AMPD1	270	genome.wustl.edu	37	1	115221038	115221038	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:115221038C>T	ENST00000520113.2	-	8	1122	c.1107G>A	c.(1105-1107)gaG>gaA	p.E369E	AMPD1_ENST00000369538.3_Silent_p.E365E|AMPD1_ENST00000353928.6_Silent_p.E336E			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	369					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TCAGATTCTTCTCTTTGGTGC	0.398																																						dbGAP											0													171.0	165.0	167.0					1																	115221038		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1107G>A	1.37:g.115221038C>T			A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Silent	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.E369	ENST00000520113.2	37	c.1107	CCDS876.2	1																																																																																			AMPD1	-	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	ENSG00000116748		0.398	AMPD1-001	KNOWN	basic|CCDS	protein_coding	AMPD1	HGNC	protein_coding	OTTHUMT00000032860.4	169	0.00	0	C			115221038	115221038	-1	no_errors	ENST00000520113	ensembl	human	known	69_37n	silent	160	11.60	21	SNP	1.000	T
ANK1	286	genome.wustl.edu	37	8	41615585	41615585	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:41615585C>T	ENST00000347528.4	-	2	181	c.98G>A	c.(97-99)cGg>cAg	p.R33Q	ANK1_ENST00000352337.4_Missense_Mutation_p.R33Q|ANK1_ENST00000379758.2_Missense_Mutation_p.R33Q|ANK1_ENST00000396945.1_Missense_Mutation_p.R33Q|ANK1_ENST00000265709.8_Missense_Mutation_p.R66Q|ANK1_ENST00000396942.1_Missense_Mutation_p.R33Q|ANK1_ENST00000289734.7_Missense_Mutation_p.R33Q	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	33	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TACCCCATTCCGCAGGTGATC	0.507																																						dbGAP											0													343.0	327.0	333.0					8																	41615585		2203	4300	6503	-	-	-	SO:0001583	missense	0			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.98G>A	8.37:g.41615585C>T	ENSP00000339620:p.Arg33Gln		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.R33Q	ENST00000347528.4	37	c.98	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966202	0.53507	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.54	3.76	0.43208	Ankyrin repeat-containing domain (2);	0.055921	0.64402	D	0.000002	T	0.58652	0.2137	L	0.31476	0.935	0.46203	D	0.998929	B;D;B;B;B	0.55385	0.025;0.971;0.003;0.029;0.014	B;P;B;B;B	0.51355	0.045;0.667;0.004;0.017;0.028	T	0.59705	-0.7404	10	0.52906	T	0.07	.	12.2524	0.54605	0.0:0.8618:0.0:0.1382	.	66;33;33;33;33	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	Q	33;33;33;33;33;33;66;33	ENSP00000339620:R33Q;ENSP00000289734:R33Q;ENSP00000369082:R33Q;ENSP00000380149:R33Q;ENSP00000380147:R33Q;ENSP00000309131:R33Q;ENSP00000265709:R66Q	ENSP00000265709:R66Q	R	-	2	0	ANK1	41734742	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.546000	0.45778	0.826000	0.34661	0.563000	0.77884	CGG	ANK1	-	smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000029534		0.507	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	227	0.00	0	C	NM_020475		41615585	41615585	-1	no_errors	ENST00000396942	ensembl	human	known	69_37n	missense	188	18.61	43	SNP	1.000	T
ANGPT1	284	genome.wustl.edu	37	8	108334135	108334135	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:108334135G>C	ENST00000520734.1	-	3	482	c.197C>G	c.(196-198)aCt>aGt	p.T66S	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Missense_Mutation_p.T66S			Q15389	ANGP1_HUMAN	angiopoietin 1	266					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			ACCTTCTTTAGTGCAAAGATT	0.383																																						dbGAP											0													164.0	149.0	154.0					8																	108334135		2203	4300	6503	-	-	-	SO:0001583	missense	0			D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.197C>G	8.37:g.108334135G>C	ENSP00000430750:p.Thr66Ser		Q5HYA0	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.T266S	ENST00000520734.1	37	c.797		8	.	.	.	.	.	.	.	.	.	.	G	4.432	0.079932	0.08533	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000395820;ENST00000520734;ENST00000520052	T;T;T;T	0.52295	1.02;1.02;0.68;0.67	5.36	4.48	0.54585	.	0.279317	0.41194	D	0.000929	T	0.21761	0.0524	N	0.02842	-0.48	0.33621	D	0.604765	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.24368	-1.0162	10	0.02654	T	1	.	15.4915	0.75607	0.0:0.0:0.8605:0.1395	.	66;266;266	E7ERK4;Q5HYA0;Q15389	.;.;ANGP1_HUMAN	S	266;266;78;66;66	ENSP00000428340:T266S;ENSP00000297450:T266S;ENSP00000430750:T66S;ENSP00000429349:T66S	ENSP00000297450:T266S	T	-	2	0	ANGPT1	108403311	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.822000	0.69265	1.244000	0.43870	0.655000	0.94253	ACT	ANGPT1	-	NULL	ENSG00000154188		0.383	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	ANGPT1	HGNC	protein_coding	OTTHUMT00000380428.2	286	0.00	0	G	NM_001146, NM_139290		108334135	108334135	-1	no_errors	ENST00000517746	ensembl	human	known	69_37n	missense	64	13.51	10	SNP	1.000	C
ANKRD13D	338692	genome.wustl.edu	37	11	67057631	67057631	+	5'UTR	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:67057631T>C	ENST00000447274.2	+	0	1087				ANKRD13D_ENST00000308440.6_5'UTR|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.V58A|ANKRD13D_ENST00000514166.1_5'UTR			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D							endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TCTGTGAGAGTGCTCCTTCGA	0.662																																						dbGAP											0													57.0	72.0	67.0					11																	67057631		692	1591	2283	-	-	-	SO:0001623	5_prime_UTR_variant	0			AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.-89T>C	11.37:g.67057631T>C			D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif	p.V58A	ENST00000447274.2	37	c.173		11	.	.	.	.	.	.	.	.	.	.	T	17.87	3.493831	0.64186	.	.	ENSG00000172932	ENST00000511455	T	0.63744	-0.06	3.67	3.67	0.42095	.	.	.	.	.	T	0.54029	0.1833	.	.	.	0.53688	D	0.999974	B	0.30584	0.286	B	0.40534	0.332	T	0.45264	-0.9273	8	0.15066	T	0.55	-20.1143	12.248	0.54581	0.0:0.0:0.0:1.0	.	58	Q6ZTN6-3	.	A	58	ENSP00000427130:V58A	ENSP00000427130:V58A	V	+	2	0	ANKRD13D	66814207	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.796000	0.85898	1.895000	0.54865	0.459000	0.35465	GTG	ANKRD13D	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000172932		0.662	ANKRD13D-001	KNOWN	basic	protein_coding	ANKRD13D	HGNC	protein_coding	OTTHUMT00000371067.2	56	0.00	0	T	NM_207354		67057631	67057631	+1	no_errors	ENST00000511455	ensembl	human	known	69_37n	missense	91	11.65	12	SNP	1.000	C
ANKRD18A	253650	genome.wustl.edu	37	9	38620234	38620234	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:38620234T>G	ENST00000399703.5	-	1	423	c.49A>C	c.(49-51)Agc>Cgc	p.S17R	FAM201A_ENST00000484285.2_RNA|FAM201A_ENST00000377680.3_RNA|FAM201A_ENST00000471864.1_RNA	NM_147195.2	NP_671728.2	Q8IVF6	AN18A_HUMAN	ankyrin repeat domain 18A	17										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						TCCATGGAGCTCAGGAGCGCC	0.657																																						dbGAP											0													42.0	48.0	46.0					9																	38620234		692	1591	2283	-	-	-	SO:0001583	missense	0			AB095935	CCDS55311.1	9p13.1	2013-01-10			ENSG00000180071	ENSG00000180071		"""Ankyrin repeat domain containing"""	23643	protein-coding gene	gene with protein product							Standard	NM_147195		Approved	KIAA2015, FLJ35740	uc004abg.4	Q8IVF6	OTTHUMG00000019950	ENST00000399703.5:c.49A>C	9.37:g.38620234T>G	ENSP00000382610:p.Ser17Arg		A7MD11|A8MVU5|Q5SY86|Q7Z468|Q8NA88	Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S17R	ENST00000399703.5	37	c.49	CCDS55311.1	9	.	.	.	.	.	.	.	.	.	.	T	11.18	1.563915	0.27915	.	.	ENSG00000180071	ENST00000399703	T	0.28255	1.62	1.34	-0.797	0.10909	.	.	.	.	.	T	0.13157	0.0319	N	0.08118	0	0.09310	N	0.999991	D	0.59357	0.985	B	0.42422	0.387	T	0.12837	-1.0532	9	0.41790	T	0.15	.	3.6696	0.08269	0.0:0.4485:0.0:0.5515	.	17	Q8IVF6	AN18A_HUMAN	R	17	ENSP00000382610:S17R	ENSP00000382610:S17R	S	-	1	0	ANKRD18A	38610234	0.071000	0.21146	0.008000	0.14137	0.038000	0.13279	-0.157000	0.10085	-0.213000	0.10094	0.358000	0.22013	AGC	ANKRD18A	-	NULL	ENSG00000180071		0.657	ANKRD18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD18A	HGNC	protein_coding	OTTHUMT00000052506.3	79	0.00	0	T			38620234	38620234	-1	no_errors	ENST00000399703	ensembl	human	known	69_37n	missense	167	13.92	27	SNP	0.012	G
ANKRD26	22852	genome.wustl.edu	37	10	27301888	27301888	+	Missense_Mutation	SNP	T	T	C	rs372371136		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:27301888T>C	ENST00000376087.4	-	32	5041	c.4876A>G	c.(4876-4878)Att>Gtt	p.I1626V	ANKRD26_ENST00000376070.3_Missense_Mutation_p.I1183V|ANKRD26_ENST00000436985.2_Missense_Mutation_p.I1642V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1625					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCTCTTGGAATAAGTTTTCTG	0.403																																						dbGAP											0													144.0	136.0	138.0					10																	27301888		1855	4102	5957	-	-	-	SO:0001583	missense	0			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4876A>G	10.37:g.27301888T>C	ENSP00000365255:p.Ile1626Val		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.I1642V	ENST00000376087.4	37	c.4924	CCDS41499.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.069|5.069	0.198361|0.198361	0.09652|0.09652	.|.	.|.	ENSG00000107890|ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985|ENST00000445828	T;T;T|.	0.38077|.	1.16;1.16;1.16|.	4.33|4.33	-1.04|-1.04	0.10068|0.10068	.|.	.|.	.|.	.|.	.|.	T|T	0.27063|0.27063	0.0663|0.0663	L|L	0.46819|0.46819	1.47|1.47	0.09310|0.09310	N|N	1|1	B;B;B|.	0.30068|.	0.206;0.245;0.267|.	B;B;B|.	0.34385|.	0.058;0.096;0.181|.	T|T	0.29882|0.29882	-0.9997|-0.9997	9|5	0.32370|.	T|.	0.25|.	.|.	0.4092|0.4092	0.00438|0.00438	0.1811:0.2125:0.1872:0.4192|0.1811:0.2125:0.1872:0.4192	.|.	1626;1625;1642|.	Q9UPS8-3;Q9UPS8;A1L497|.	.;ANR26_HUMAN;.|.	V|C	1183;1626;1642|113	ENSP00000365238:I1183V;ENSP00000365255:I1626V;ENSP00000405112:I1642V|.	ENSP00000365238:I1183V|.	I|Y	-|-	1|2	0|0	ANKRD26|ANKRD26	27341894|27341894	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.335000|0.335000	0.28730|0.28730	-0.331000|-0.331000	0.07914|0.07914	-0.208000|-0.208000	0.10171|0.10171	0.254000|0.254000	0.18369|0.18369	ATT|TAT	ANKRD26	-	pfam_DUF3496	ENSG00000107890		0.403	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	HGNC	protein_coding	OTTHUMT00000047296.1	148	0.00	0	T			27301888	27301888	-1	no_errors	ENST00000436985	ensembl	human	known	69_37n	missense	31	20.51	8	SNP	0.000	C
ANKRD54	129138	genome.wustl.edu	37	22	38229172	38229172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr22:38229172G>A	ENST00000215941.4	-	5	781	c.589C>T	c.(589-591)Cga>Tga	p.R197*	ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000406423.1_Nonsense_Mutation_p.R77*|ANKRD54_ENST00000609454.1_Silent_p.Y45Y|ANKRD54_ENST00000411961.2_Nonsense_Mutation_p.R181*	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	197	LYN-binding. {ECO:0000250}.				nucleocytoplasmic transport (GO:0006913)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of intracellular signal transduction (GO:1902531)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	protein kinase regulator activity (GO:0019887)			lung(1)	1	Melanoma(58;0.045)					ATACCTCCTCGTAGCAGTGTG	0.582																																						dbGAP											0													123.0	120.0	121.0					22																	38229172		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC014641	CCDS13959.1	22q13.1	2013-01-10			ENSG00000100124	ENSG00000100124		"""Ankyrin repeat domain containing"""	25185	protein-coding gene	gene with protein product		613383				15461802	Standard	NM_138797		Approved	LIAR	uc003auc.3	Q6NXT1	OTTHUMG00000150663	ENST00000215941.4:c.589C>T	22.37:g.38229172G>A	ENSP00000215941:p.Arg197*		Q6ZSB1|Q9UGV1	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R197*	ENST00000215941.4	37	c.589	CCDS13959.1	22	.	.	.	.	.	.	.	.	.	.	G	37	6.249839	0.97412	.	.	ENSG00000100124	ENST00000215941;ENST00000406423;ENST00000411961;ENST00000424350;ENST00000434930	.	.	.	5.47	4.4	0.53042	.	0.063757	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-7.5541	15.1259	0.72483	0.0:0.0:0.8581:0.1419	.	.	.	.	X	197;77;181;64;197	.	ENSP00000215941:R197X	R	-	1	2	ANKRD54	36559118	1.000000	0.71417	0.961000	0.40146	0.994000	0.84299	3.505000	0.53356	2.586000	0.87340	0.644000	0.83932	CGA	ANKRD54	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000100124		0.582	ANKRD54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD54	HGNC	protein_coding	OTTHUMT00000319490.1	464	0.00	0	G	NM_138797		38229172	38229172	-1	no_errors	ENST00000215941	ensembl	human	known	69_37n	nonsense	463	12.62	67	SNP	0.979	A
ANPEP	290	genome.wustl.edu	37	15	90349559	90349559	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:90349559G>A	ENST00000300060.6	-	2	569	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	86	Metalloprotease.		R -> Q (in dbSNP:rs25653). {ECO:0000269|PubMed:2564851, ECO:0000269|PubMed:2901990, ECO:0000269|Ref.6}.		angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	AGCGTCACCCGGTAGGAATCG	0.607																																					NSCLC(30;827 977 2459 19669 26125)	dbGAP											0													122.0	97.0	105.0					15																	90349559		2200	4299	6499	-	-	-	SO:0001583	missense	0			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.256C>T	15.37:g.90349559G>A	ENSP00000300060:p.Arg86Trp		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.R86W	ENST00000300060.6	37	c.256	CCDS10356.1	15	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634676	0.47049	.	.	ENSG00000166825	ENST00000300060	T	0.04454	3.62	4.74	1.18	0.20946	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	1.230460	0.05459	N	0.550827	T	0.10508	0.0257	L	0.35644	1.08	0.20403	N	0.999901	P	0.45428	0.858	P	0.55303	0.773	T	0.36407	-0.9749	10	0.72032	D	0.01	.	6.8785	0.24160	0.0:0.099:0.4097:0.4914	.	86	P15144	AMPN_HUMAN	W	86	ENSP00000300060:R86W	ENSP00000300060:R86W	R	-	1	2	ANPEP	88150563	0.442000	0.25633	0.125000	0.21846	0.267000	0.26476	0.794000	0.26958	-0.032000	0.13758	0.467000	0.42956	CGG	ANPEP	-	pfam_Peptidase_M1_N	ENSG00000166825		0.607	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANPEP	HGNC	protein_coding	OTTHUMT00000313425.1	180	0.55	1	G			90349559	90349559	-1	no_errors	ENST00000300060	ensembl	human	known	69_37n	missense	217	27.15	82	SNP	0.669	A
AOX1	316	genome.wustl.edu	37	2	201515911	201515911	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:201515911G>T	ENST00000374700.2	+	26	3303	c.3062G>T	c.(3061-3063)cGt>cTt	p.R1021L	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1021					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|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)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CTTGGCTCACGTGCTGCTGGT	0.488																																						dbGAP											0													106.0	106.0	106.0					2																	201515911		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3062G>T	2.37:g.201515911G>T	ENSP00000363832:p.Arg1021Leu		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.R1021L	ENST00000374700.2	37	c.3062	CCDS33360.1	2	.	.	.	.	.	.	.	.	.	.	G	8.698	0.909122	0.17833	.	.	ENSG00000138356	ENST00000374700	T	0.37752	1.18	5.65	-2.6	0.06190	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (2);	2.920510	0.01215	N	0.007953	T	0.14743	0.0356	N	0.02708	-0.52	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.09122	-1.0689	10	0.24483	T	0.36	1.5605	3.5419	0.07814	0.1707:0.1833:0.4735:0.1725	.	1021	Q06278	ADO_HUMAN	L	1021	ENSP00000363832:R1021L	ENSP00000363832:R1021L	R	+	2	0	AOX1	201224156	0.000000	0.05858	0.000000	0.03702	0.140000	0.21249	-0.111000	0.10807	-0.592000	0.05851	-0.262000	0.10625	CGT	AOX1	-	pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase	ENSG00000138356		0.488	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	HGNC	protein_coding	OTTHUMT00000335844.1	123	0.00	0	G	NM_001159		201515911	201515911	+1	no_errors	ENST00000374700	ensembl	human	known	69_37n	missense	23	17.86	5	SNP	0.000	T
APBA1	320	genome.wustl.edu	37	9	72131695	72131695	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:72131695G>A	ENST00000265381.4	-	2	654	c.432C>T	c.(430-432)cgC>cgT	p.R144R		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	144					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TGGGCAGCGCGCGGCGGTGCG	0.682																																						dbGAP											0													42.0	37.0	39.0					9																	72131695		2201	4295	6496	-	-	-	SO:0001819	synonymous_variant	0			AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.432C>T	9.37:g.72131695G>A			O14914|O60570|Q5VYR8	Silent	SNP	pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom	p.R144	ENST00000265381.4	37	c.432	CCDS6630.1	9																																																																																			APBA1	-	NULL	ENSG00000107282		0.682	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA1	HGNC	protein_coding	OTTHUMT00000052589.2	113	0.00	0	G	NM_001163		72131695	72131695	-1	no_errors	ENST00000265381	ensembl	human	known	69_37n	silent	159	10.17	18	SNP	0.047	A
APC2	10297	genome.wustl.edu	37	19	1460266	1460266	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:1460266C>A	ENST00000535453.1	+	10	3103	c.1390C>A	c.(1390-1392)Cgc>Agc	p.R464S	APC2_ENST00000233607.2_Missense_Mutation_p.R464S|APC2_ENST00000238483.4_Missense_Mutation_p.R190S|CTB-25B13.12_ENST00000588225.1_RNA			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGCTGCGCCGCTACGCGGG	0.637																																						dbGAP											0													69.0	67.0	68.0					19																	1460266		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.1390C>A	19.37:g.1460266C>A	ENSP00000442954:p.Arg464Ser		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo	p.R464S	ENST00000535453.1	37	c.1390	CCDS12068.1	19	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494784	0.64186	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	T;D;T	0.91124	-0.18;-2.79;-0.18	4.0	2.93	0.34026	Armadillo-like helical (1);Armadillo-type fold (1);	0.075923	0.51477	D	0.000096	D	0.93569	0.7947	M	0.65975	2.015	0.38913	D	0.957578	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93735	0.7045	10	0.87932	D	0	-23.5336	10.6096	0.45415	0.2178:0.7822:0.0:0.0	.	463;464	O95996-3;O95996	.;APC2_HUMAN	S	464;190;464	ENSP00000233607:R464S;ENSP00000238483:R190S;ENSP00000442954:R464S	ENSP00000233607:R464S	R	+	1	0	APC2	1411266	0.138000	0.22547	0.989000	0.46669	0.815000	0.46073	0.402000	0.20965	0.946000	0.37632	0.563000	0.77884	CGC	APC2	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000115266		0.637	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	APC2	HGNC	protein_coding	OTTHUMT00000449539.2	92	0.00	0	C	NM_005883		1460266	1460266	+1	no_errors	ENST00000233607	ensembl	human	known	69_37n	missense	111	26.97	41	SNP	1.000	A
APOB	338	genome.wustl.edu	37	2	21228935	21228936	+	Frame_Shift_Ins	INS	-	-	G	rs530659716		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:21228935_21228936insG	ENST00000233242.1	-	26	10931_10932	c.10804_10805insC	c.(10804-10806)gtcfs	p.V3602fs		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3602					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTGCATGGACCTGAACAAGA	0.48																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10804_10805insC	2.37:g.21228935_21228936insG	ENSP00000233242:p.Val3602fs		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Frame_Shift_Ins	INS	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.V3602fs	ENST00000233242.1	37	c.10805_10804	CCDS1703.1	2																																																																																			APOB	-	NULL	ENSG00000084674		0.480	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	97	0.00	0	-			21228935	21228936	-1	no_errors	ENST00000233242	ensembl	human	known	69_37n	frame_shift_ins	16	11.11	2	INS	0.628:0.679	G
APOB	338	genome.wustl.edu	37	2	21229742	21229742	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:21229742G>A	ENST00000233242.1	-	26	10125	c.9998C>T	c.(9997-9999)gCc>gTc	p.A3333V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3333					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTGCCCATGGCAGGAATAAA	0.383																																						dbGAP											0													94.0	97.0	96.0					2																	21229742		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9998C>T	2.37:g.21229742G>A	ENSP00000233242:p.Ala3333Val		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.A3333V	ENST00000233242.1	37	c.9998	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095236	0.76870	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.39997	1.05	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000007	T	0.71533	0.3351	M	0.93062	3.375	0.80722	D	1	D	0.59767	0.986	P	0.60345	0.873	T	0.78671	-0.2113	10	0.66056	D	0.02	.	19.6839	0.95973	0.0:0.0:1.0:0.0	.	3333	P04114	APOB_HUMAN	V	3333	ENSP00000233242:A3333V	ENSP00000233242:A3333V	A	-	2	0	APOB	21083247	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.684000	0.68197	2.632000	0.89209	0.655000	0.94253	GCC	APOB	-	NULL	ENSG00000084674		0.383	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	36	0.00	0	G			21229742	21229742	-1	no_errors	ENST00000233242	ensembl	human	known	69_37n	missense	7	30.00	3	SNP	1.000	A
APOBR	55911	genome.wustl.edu	37	16	28507705	28507705	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:28507705A>G	ENST00000431282.1	+	3	1326	c.1316A>G	c.(1315-1317)gAa>gGa	p.E439G	APOBR_ENST00000564831.1_Missense_Mutation_p.E448G|CLN3_ENST00000569430.1_5'Flank|CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000328423.5_Missense_Mutation_p.E439G			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	439	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCAGGGAGGGAAGCTGTGGGA	0.627																																						dbGAP											0													33.0	37.0	36.0					16																	28507705		2074	4224	6298	-	-	-	SO:0001583	missense	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1316A>G	16.37:g.28507705A>G	ENSP00000416094:p.Glu439Gly		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	NULL	p.E448G	ENST00000431282.1	37	c.1343		16	.	.	.	.	.	.	.	.	.	.	A	15.98	2.992564	0.54041	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.70282	-0.47;-0.47	5.44	0.325	0.15903	.	.	.	.	.	T	0.51736	0.1692	N	0.20986	0.625	0.09310	N	1	B	0.27559	0.181	B	0.26864	0.074	T	0.39099	-0.9630	9	0.42905	T	0.14	-9.2129	5.7194	0.17978	0.6371:0.132:0.2309:0.0	.	439	Q9NS13	.	G	439	ENSP00000327669:E439G;ENSP00000416094:E439G	ENSP00000327669:E439G	E	+	2	0	APOBR	28415206	0.000000	0.05858	0.001000	0.08648	0.419000	0.31324	0.054000	0.14205	0.021000	0.15133	0.416000	0.27883	GAA	APOBR	-	NULL	ENSG00000184730		0.627	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		60	0.00	0	A	NM_182804		28507705	28507705	+1	no_errors	ENST00000564831	ensembl	human	known	69_37n	missense	64	17.95	14	SNP	0.003	G
AQR	9716	genome.wustl.edu	37	15	35167030	35167030	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:35167030delC	ENST00000156471.5	-	29	3498	c.3273delG	c.(3271-3273)tggfs	p.W1091fs		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1091					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CAATCATAATCCATCGTTTTA	0.388																																						dbGAP											0													126.0	118.0	121.0					15																	35167030		1873	4108	5981	-	-	-	SO:0001589	frameshift_variant	0			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3273delG	15.37:g.35167030delC	ENSP00000156471:p.Trp1091fs		A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Frame_Shift_Del	DEL	NULL	p.W1091fs	ENST00000156471.5	37	c.3273	CCDS42013.1	15																																																																																			AQR	-	NULL	ENSG00000021776		0.388	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQR	HGNC	protein_coding	OTTHUMT00000417526.2	145	0.00	0	C	NM_014691		35167030	35167030	-1	no_errors	ENST00000156471	ensembl	human	known	69_37n	frame_shift_del	13	13.33	2	DEL	1.000	-
ARAF	369	genome.wustl.edu	37	X	47426043	47426043	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:47426043G>A	ENST00000377045.4	+	7	757	c.563G>A	c.(562-564)cGc>cAc	p.R188H	ARAF_ENST00000290277.6_Intron	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	188					cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.R188H(1)		biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	GGCAGCCCCCGCACCCAGCAC	0.622													G|||	1	0.000264901	0.0	0.0	3775	,	,		10037	0.001		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	lung(1)											28.0	25.0	26.0					X																	47426043		2202	4299	6501	-	-	-	SO:0001583	missense	0			X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"""v-raf murine sarcoma 3611 viral oncogene homolog 1"""	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.563G>A	X.37:g.47426043G>A	ENSP00000366244:p.Arg188His		P07557|Q5H9B2|Q5H9B3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.R188H	ENST00000377045.4	37	c.563	CCDS35232.1	X	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.341094	0.01277	.	.	ENSG00000078061	ENST00000377045	T	0.74421	-0.84	5.37	2.02	0.26589	.	1.428110	0.03652	N	0.241251	T	0.59729	0.2215	N	0.22421	0.69	0.09310	N	0.999999	P;B	0.34629	0.46;0.0	B;B	0.26517	0.07;0.001	T	0.47209	-0.9135	10	0.29301	T	0.29	.	8.5422	0.33399	0.1819:0.0:0.6845:0.1336	.	188;54	P10398;B4DV85	ARAF_HUMAN;.	H	188	ENSP00000366244:R188H	ENSP00000366244:R188H	R	+	2	0	ARAF	47310987	0.896000	0.30565	0.181000	0.23098	0.004000	0.04260	2.153000	0.42282	0.100000	0.17581	-1.195000	0.01675	CGC	ARAF	-	NULL	ENSG00000078061		0.622	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ARAF	HGNC	protein_coding	OTTHUMT00000056418.1	129	0.00	0	G			47426043	47426043	+1	no_errors	ENST00000377045	ensembl	human	known	69_37n	missense	159	10.11	18	SNP	0.006	A
ARAP2	116984	genome.wustl.edu	37	4	36149338	36149339	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:36149338_36149339insA	ENST00000303965.4	-	18	3519_3520	c.3030_3031insT	c.(3028-3033)ttaacafs	p.T1011fs		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1011					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCAGCTTCTGTTAAGTTTTCAG	0.371																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3030_3031insT	4.37:g.36149338_36149339insA	ENSP00000302895:p.Thr1011fs		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Frame_Shift_Ins	INS	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.T1010fs	ENST00000303965.4	37	c.3031_3030	CCDS3441.1	4																																																																																			ARAP2	-	NULL	ENSG00000047365		0.371	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	96	0.00	0	-	NM_015230		36149338	36149339	-1	no_errors	ENST00000303965	ensembl	human	known	69_37n	frame_shift_ins	16	15.79	3	INS	1.000:1.000	A
ARAP3	64411	genome.wustl.edu	37	5	141059798	141059798	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:141059798C>T	ENST00000239440.4	-	2	321	c.256G>A	c.(256-258)Gcc>Acc	p.A86T	ARAP3_ENST00000508305.1_Missense_Mutation_p.A8T	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	86	Pro-rich.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GCTTGCGGGGCTGGGCTGGGG	0.642																																						dbGAP											0													61.0	69.0	66.0					5																	141059798		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.256G>A	5.37:g.141059798C>T	ENSP00000239440:p.Ala86Thr		B4DIT1|D3DQE3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.A86T	ENST00000239440.4	37	c.256	CCDS4266.1	5	.	.	.	.	.	.	.	.	.	.	C	2.051	-0.417737	0.04766	.	.	ENSG00000120318	ENST00000522690;ENST00000508305;ENST00000239440;ENST00000504448	T;T;T	0.61627	2.47;3.12;0.09	4.35	3.48	0.39840	.	0.743369	0.11846	N	0.523857	T	0.36496	0.0969	N	0.14661	0.345	0.21499	N	0.999665	B;B	0.19817	0.001;0.039	B;B	0.16289	0.001;0.015	T	0.19128	-1.0315	10	0.20046	T	0.44	.	7.965	0.30094	0.0:0.8868:0.0:0.1132	.	8;86	G5E9Y3;Q8WWN8	.;ARAP3_HUMAN	T	8;8;86;86	ENSP00000421826:A8T;ENSP00000239440:A86T;ENSP00000421148:A86T	ENSP00000239440:A86T	A	-	1	0	ARAP3	141039982	0.000000	0.05858	0.456000	0.27044	0.007000	0.05969	0.092000	0.15066	1.047000	0.40274	0.456000	0.33151	GCC	ARAP3	-	NULL	ENSG00000120318		0.642	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP3	HGNC	protein_coding	OTTHUMT00000251805.1	80	0.00	0	C	NM_022481		141059798	141059798	-1	no_errors	ENST00000239440	ensembl	human	known	69_37n	missense	131	26.92	49	SNP	0.014	T
ARHGAP22	58504	genome.wustl.edu	37	10	49663123	49663123	+	Silent	SNP	G	G	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:49663123G>C	ENST00000249601.4	-	6	1010	c.714C>G	c.(712-714)ctC>ctG	p.L238L	ARHGAP22_ENST00000417912.2_Silent_p.L254L|ARHGAP22_ENST00000435790.2_Silent_p.L244L|ARHGAP22_ENST00000417247.2_Silent_p.L148L|ARHGAP22_ENST00000374170.1_Intron|ARHGAP22_ENST00000374172.1_Silent_p.L129L	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	238	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGGGCTCGGGGAGCTCCCGCA	0.667																																						dbGAP											0													41.0	34.0	36.0					10																	49663123		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.714C>G	10.37:g.49663123G>C			A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.L254	ENST00000249601.4	37	c.762	CCDS7227.1	10																																																																																			ARHGAP22	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000128805		0.667	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGAP22	HGNC	protein_coding	OTTHUMT00000358767.1	41	0.00	0	G	NM_021226		49663123	49663123	-1	no_errors	ENST00000417912	ensembl	human	known	69_37n	silent	77	17.20	16	SNP	0.998	C
ARHGAP31	57514	genome.wustl.edu	37	3	119134691	119134691	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:119134691G>A	ENST00000264245.4	+	12	4447	c.3915G>A	c.(3913-3915)gtG>gtA	p.V1305V		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1305					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ATGCAGTAGTGCAATGCAGAA	0.547																																					Pancreas(7;176 297 5394 51128 51241)	dbGAP											0													82.0	88.0	86.0					3																	119134691		1977	4184	6161	-	-	-	SO:0001819	synonymous_variant	0				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3915G>A	3.37:g.119134691G>A			Q9ULL6	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.V1305	ENST00000264245.4	37	c.3915	CCDS43135.1	3																																																																																			ARHGAP31	-	NULL	ENSG00000031081		0.547	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	124	0.00	0	G			119134691	119134691	+1	no_errors	ENST00000264245	ensembl	human	known	69_37n	silent	28	24.32	9	SNP	0.994	A
ARHGAP32	9743	genome.wustl.edu	37	11	128936666	128936666	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:128936666delG	ENST00000310343.9	-	6	586	c.587delC	c.(586-588)tcafs	p.S196fs	ARHGAP32_ENST00000524655.1_Frame_Shift_Del_p.S122fs	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	196	PX; atypical.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGGAAGTTCTGAGAGCTGGGA	0.373																																						dbGAP											0													84.0	81.0	82.0					11																	128936666		1566	3578	5144	-	-	-	SO:0001589	frameshift_variant	0			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.587delC	11.37:g.128936666delG	ENSP00000310561:p.Ser196fs		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Frame_Shift_Del	DEL	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.S196fs	ENST00000310343.9	37	c.587	CCDS44769.1	11																																																																																			ARHGAP32	-	pfam_Phox,superfamily_Phox	ENSG00000134909		0.373	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	HGNC	protein_coding	OTTHUMT00000386151.3	84	0.00	0	G	NM_014715		128936666	128936666	-1	no_errors	ENST00000310343	ensembl	human	known	69_37n	frame_shift_del	15	11.76	2	DEL	1.000	-
ARHGAP36	158763	genome.wustl.edu	37	X	130222739	130222739	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:130222739G>A	ENST00000276211.5	+	12	1969	c.1624G>A	c.(1624-1626)Gtc>Atc	p.V542I	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.V530I|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.V406I	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	542					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CAAAACTGGCGTCAGCTACTT	0.542																																						dbGAP											0													85.0	79.0	81.0					X																	130222739		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1624G>A	X.37:g.130222739G>A	ENSP00000276211:p.Val542Ile		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.V542I	ENST00000276211.5	37	c.1624	CCDS14628.1	X	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.931200	0.00488	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.07021	3.23;3.25;3.25;3.28	4.31	1.77	0.24775	.	0.903985	0.09370	N	0.811470	T	0.03390	0.0098	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45483	-0.9258	10	0.06099	T	0.92	.	5.1617	0.15064	0.7536:0.0:0.2464:0.0	.	511;530;542	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	I	542;530;511;406	ENSP00000276211:V542I;ENSP00000359960:V530I;ENSP00000408515:V511I;ENSP00000359959:V406I	ENSP00000276211:V542I	V	+	1	0	ARHGAP36	130050420	0.824000	0.29247	0.402000	0.26371	0.519000	0.34347	1.445000	0.35079	0.280000	0.22209	-0.354000	0.07668	GTC	ARHGAP36	-	NULL	ENSG00000147256		0.542	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	200	0.50	1	G	NM_144967		130222739	130222739	+1	no_errors	ENST00000276211	ensembl	human	known	69_37n	missense	158	10.73	19	SNP	0.375	A
ARHGAP42	143872	genome.wustl.edu	37	11	100859463	100859464	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:100859463_100859464insT	ENST00000298815.8	+	24	2559_2560	c.2556_2557insT	c.(2557-2559)ggafs	p.G853fs	ARHGAP42_ENST00000524892.2_Frame_Shift_Ins_p.G819fs	NM_152432.2	NP_689645.2	A6NI28	RHG42_HUMAN	Rho GTPase activating protein 42	853	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				signal transduction (GO:0007165)	intracellular (GO:0005622)	GTPase activator activity (GO:0005096)			endometrium(3)|skin(2)	5						CAGTGGAACCAGGATGGTTAAA	0.356																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0					11q22.1	2012-04-19			ENSG00000165895	ENSG00000165895		"""Rho GTPase activating proteins"""	26545	protein-coding gene	gene with protein product		615936				18954304	Standard	NM_152432		Approved	FLJ32810, GRAF3	uc001pge.2	A6NI28	OTTHUMG00000167530	Exception_encountered	11.37:g.100859463_100859464insT	ENSP00000298815:p.Gly853fs		Q96M56	Frame_Shift_Ins	INS	pfam_RhoGAP_dom,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.G852fs	ENST00000298815.8	37	c.2556_2557		11																																																																																			ARHGAP42	-	pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000165895		0.356	ARHGAP42-201	KNOWN	basic|appris_principal	protein_coding	ARHGAP42	HGNC	protein_coding		144	0.00	0	-	NM_152432		100859463	100859464	+1	no_errors	ENST00000298815	ensembl	human	known	69_37n	frame_shift_ins	21	12.50	3	INS	0.716:1.000	T
ARHGAP42	143872	genome.wustl.edu	37	11	100859466	100859466	+	Silent	SNP	A	A	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:100859466A>T	ENST00000298815.8	+	24	2562	c.2559A>T	c.(2557-2559)ggA>ggT	p.G853G	ARHGAP42_ENST00000524892.2_Silent_p.G819G	NM_152432.2	NP_689645.2	A6NI28	RHG42_HUMAN	Rho GTPase activating protein 42	853	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				signal transduction (GO:0007165)	intracellular (GO:0005622)	GTPase activator activity (GO:0005096)			endometrium(3)|skin(2)	5						TGGAACCAGGATGGTTAAAGG	0.353																																						dbGAP											0													112.0	101.0	104.0					11																	100859466		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0					11q22.1	2012-04-19			ENSG00000165895	ENSG00000165895		"""Rho GTPase activating proteins"""	26545	protein-coding gene	gene with protein product		615936				18954304	Standard	NM_152432		Approved	FLJ32810, GRAF3	uc001pge.2	A6NI28	OTTHUMG00000167530	ENST00000298815.8:c.2559A>T	11.37:g.100859466A>T			Q96M56	Silent	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.G853	ENST00000298815.8	37	c.2559		11																																																																																			ARHGAP42	-	pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000165895		0.353	ARHGAP42-201	KNOWN	basic|appris_principal	protein_coding	ARHGAP42	HGNC	protein_coding		154	0.00	0	A	NM_152432		100859466	100859466	+1	no_errors	ENST00000298815	ensembl	human	known	69_37n	silent	23	14.81	4	SNP	1.000	T
ARHGAP5	394	genome.wustl.edu	37	14	32586415	32586415	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:32586415C>T	ENST00000345122.3	+	3	4102	c.3787C>T	c.(3787-3789)Ccc>Tcc	p.P1263S	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.P1263S|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.P1262S|ARHGAP5_ENST00000433497.1_Missense_Mutation_p.P2S|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.P1262S	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1263	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CTTTGGGATGCCCCTCCAGGA	0.358																																					NSCLC(9;77 350 3443 29227 41353)	dbGAP											0													90.0	94.0	93.0					14																	32586415		2203	4300	6503	-	-	-	SO:0001583	missense	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.3787C>T	14.37:g.32586415C>T	ENSP00000371897:p.Pro1263Ser		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.P1263S	ENST00000345122.3	37	c.3787	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760012	0.89932	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921;ENST00000433497;ENST00000554090	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;2.43;2.43	5.61	5.61	0.85477	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.59142	0.2172	L	0.49126	1.545	0.80722	D	1	P;P	0.51537	0.946;0.91	P;P	0.61132	0.884;0.768	T	0.59804	-0.7385	10	0.87932	D	0	.	19.6299	0.95698	0.0:1.0:0.0:0.0	.	1262;1263	Q13017-2;Q13017	.;RHG05_HUMAN	S	1262;1263;1263;1262;2;2	ENSP00000452222:P1262S;ENSP00000441692:P1263S;ENSP00000371897:P1263S;ENSP00000393307:P1262S;ENSP00000407395:P2S;ENSP00000451061:P2S	ENSP00000216743:P117S	P	+	1	0	ARHGAP5	31656166	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.178000	0.77657	2.640000	0.89533	0.563000	0.77884	CCC	ARHGAP5	-	superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom	ENSG00000100852		0.358	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	48	0.00	0	C	NM_001030055		32586415	32586415	+1	no_errors	ENST00000345122	ensembl	human	known	69_37n	missense	52	24.64	17	SNP	1.000	T
ARHGEF11	9826	genome.wustl.edu	37	1	156908247	156908247	+	Silent	SNP	A	A	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:156908247A>C	ENST00000361409.2	-	37	4777	c.4035T>G	c.(4033-4035)ccT>ccG	p.P1345P	ARHGEF11_ENST00000368194.3_Silent_p.P1385P|MIR765_ENST00000390226.1_RNA|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Silent_p.P761P	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1345					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGGTGGCCCAGGCTCTGACT	0.567																																						dbGAP											0													95.0	84.0	88.0					1																	156908247		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.4035T>G	1.37:g.156908247A>C			D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain	p.P1385	ENST00000361409.2	37	c.4155	CCDS1162.1	1																																																																																			ARHGEF11	-	NULL	ENSG00000132694		0.567	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	270	0.37	1	A	NM_198236		156908247	156908247	-1	no_errors	ENST00000368194	ensembl	human	known	69_37n	silent	309	11.93	42	SNP	1.000	C
ARHGEF12	23365	genome.wustl.edu	37	11	120352007	120352008	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:120352007_120352008delGA	ENST00000397843.2	+	39	4442_4443	c.4276_4277delGA	c.(4276-4278)gagfs	p.E1426fs	ARHGEF12_ENST00000532993.1_Frame_Shift_Del_p.E1323fs|ARHGEF12_ENST00000356641.3_Frame_Shift_Del_p.E1407fs	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1426					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CCCAGTGCAGGAGAGTTCCACA	0.48			T	MLL	AML																																	dbGAP		Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0																																										-	-	-	SO:0001589	frameshift_variant	0			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.4276_4277delGA	11.37:g.120352009_120352010delGA	ENSP00000380942:p.Glu1426fs		O15086|Q6P526	Frame_Shift_Del	DEL	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.S1408fs	ENST00000397843.2	37	c.4219_4220	CCDS41727.1	11																																																																																			ARHGEF12	-	NULL	ENSG00000196914		0.480	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	106	0.00	0	GA	NM_015313		120352007	120352008	+1	no_errors	ENST00000356641	ensembl	human	known	69_37n	frame_shift_del	27	10.00	3	DEL	1.000:1.000	-
ARHGEF2	9181	genome.wustl.edu	37	1	155920658	155920658	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:155920658C>T	ENST00000361247.4	-	20	2764	c.2665G>A	c.(2665-2667)Gca>Aca	p.A889T	ARHGEF2_ENST00000462460.2_Missense_Mutation_p.A934T|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.A890T|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.A888T|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.A861T|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.A861T	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	889					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCATCGCCTGCGGGGAGGCTG	0.672																																					Melanoma(178;35 2768 6610 28839)	dbGAP											0													41.0	46.0	44.0					1																	155920658		2202	4296	6498	-	-	-	SO:0001583	missense	0			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.2665G>A	1.37:g.155920658C>T	ENSP00000354837:p.Ala889Thr		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.A890T	ENST00000361247.4	37	c.2668	CCDS53376.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315023	0.81358	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.68624	-0.34;-0.22;-0.23;-0.34;-0.34	5.27	4.36	0.52297	.	0.000000	0.47852	D	0.000207	T	0.53061	0.1773	N	0.19112	0.55	0.27754	N	0.944064	D;P;D;D	0.89917	0.997;0.94;0.964;1.0	P;B;P;D	0.64506	0.734;0.413;0.617;0.926	T	0.51733	-0.8668	10	0.36615	T	0.2	-15.028	11.6592	0.51337	0.0:0.9146:0.0:0.0854	.	933;889;888;890	D3DVA5;Q92974;Q92974-2;Q5VY93	.;ARHG2_HUMAN;.;.	T	861;889;890;861;888	ENSP00000315325:A861T;ENSP00000354837:A889T;ENSP00000357298:A890T;ENSP00000357299:A861T;ENSP00000314787:A888T	ENSP00000314787:A888T	A	-	1	0	ARHGEF2	154187282	0.989000	0.36119	0.045000	0.18777	0.964000	0.63967	3.569000	0.53827	1.456000	0.47831	0.655000	0.94253	GCA	ARHGEF2	-	NULL	ENSG00000116584		0.672	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	HGNC	protein_coding	OTTHUMT00000046204.2	12	0.00	0	C	NM_004723		155920658	155920658	-1	no_errors	ENST00000368315	ensembl	human	known	69_37n	missense	29	21.62	8	SNP	0.706	T
ARHGEF7	8874	genome.wustl.edu	37	13	111927123	111927123	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr13:111927123T>C	ENST00000375741.2	+	12	1571	c.1321T>C	c.(1321-1323)Ttc>Ctc	p.F441L	ARHGEF7_ENST00000375736.4_Missense_Mutation_p.F263L|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.F185L|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.F263L|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.F263L|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.F391L|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.F338L|ARHGEF7_ENST00000544132.1_Missense_Mutation_p.F97L|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.F348L|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.F420L|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.F263L	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	441	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CATGGCTGCCTTCAAAAACCT	0.303																																						dbGAP											0													97.0	97.0	97.0					13																	111927123		2203	4299	6502	-	-	-	SO:0001583	missense	0			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1321T>C	13.37:g.111927123T>C	ENSP00000364893:p.Phe441Leu		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,prints_SH3_domain,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.F441L	ENST00000375741.2	37	c.1321	CCDS45068.1	13	.	.	.	.	.	.	.	.	.	.	T	24.1	4.499326	0.85069	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000544132;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	4.74	4.74	0.60224	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.77025	0.4070	M	0.83118	2.625	0.80722	D	1	B;D;B;D;D;D	0.89917	0.1;0.997;0.1;0.998;1.0;0.998	P;D;P;D;D;D	0.97110	0.522;0.981;0.522;0.997;1.0;0.993	T	0.80158	-0.1499	10	0.52906	T	0.07	.	14.5367	0.67966	0.0:0.0:0.0:1.0	.	185;338;185;391;441;420	E9PDQ5;B7Z6G2;B7Z344;Q14155-2;Q14155;Q14155-3	.;.;.;.;ARHG7_HUMAN;.	L	420;441;391;348;418;263;97;263;263;263;338;263;185	ENSP00000325994:F420L;ENSP00000364893:F441L;ENSP00000364891:F391L;ENSP00000359657:F348L;ENSP00000418067:F263L;ENSP00000218789:F263L;ENSP00000364888:F263L;ENSP00000397068:F263L;ENSP00000364889:F338L;ENSP00000364875:F263L;ENSP00000417596:F185L	ENSP00000218789:F263L	F	+	1	0	ARHGEF7	110725124	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.062000	0.76706	1.884000	0.54569	0.533000	0.62120	TTC	ARHGEF7	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000102606		0.303	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	ARHGEF7	HGNC	protein_coding		150	0.00	0	T	NM_001113511		111927123	111927123	+1	no_errors	ENST00000375741	ensembl	human	known	69_37n	missense	132	14.10	22	SNP	1.000	C
ARID1B	57492	genome.wustl.edu	37	6	157522354	157522354	+	Silent	SNP	G	G	A	rs527651886		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:157522354G>A	ENST00000350026.5	+	17	4588	c.4587G>A	c.(4585-4587)acG>acA	p.T1529T	ARID1B_ENST00000346085.5_Silent_p.T1542T|ARID1B_ENST00000367148.1_Silent_p.T1582T|ARID1B_ENST00000275248.4_Silent_p.T1524T	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1529	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCTACCAGACGCCACCGTCAC	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		18164	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													143.0	136.0	138.0					6																	157522354		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4587G>A	6.37:g.157522354G>A			Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.T1582	ENST00000350026.5	37	c.4746	CCDS5251.2	6																																																																																			ARID1B	-	NULL	ENSG00000049618		0.612	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	294	0.00	0	G	NM_020732		157522354	157522354	+1	no_errors	ENST00000367148	ensembl	human	known	69_37n	silent	270	12.90	40	SNP	1.000	A
ARL15	54622	genome.wustl.edu	37	5	53467694	53467694	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:53467694A>G	ENST00000504924.1	-	2	206	c.113T>C	c.(112-114)aTa>aCa	p.I38T	ARL15_ENST00000510591.2_5'UTR|ARL15_ENST00000502271.1_Intron|ARL15_ENST00000507646.2_Missense_Mutation_p.I38T	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15	38					small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				TGTGAGGCCTATGCAAACCAG	0.493																																						dbGAP											0													82.0	83.0	83.0					5																	53467694		1948	4135	6083	-	-	-	SO:0001583	missense	0			BC026093	CCDS54850.1	5p15.2	2014-05-09	2005-11-03	2005-11-03		ENSG00000185305		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25945	protein-coding gene	gene with protein product			"""ADP-ribosylation factor related protein 2"""	ARFRP2		12477932	Standard	NM_019087		Approved	FLJ20051	uc003jpg.1	Q9NXU5		ENST00000504924.1:c.113T>C	5.37:g.53467694A>G	ENSP00000433427:p.Ile38Thr		Q6IAD0	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR	p.I38T	ENST00000504924.1	37	c.113	CCDS54850.1	5	.	.	.	.	.	.	.	.	.	.	A	26.6	4.755374	0.89843	.	.	ENSG00000185305	ENST00000504924;ENST00000507646	T;T	0.64991	-0.13;-0.13	5.93	5.93	0.95920	.	0.039455	0.85682	D	0.000000	T	0.81564	0.4849	M	0.85299	2.745	0.58432	D	0.999998	D	0.89917	1.0	D	0.75484	0.986	D	0.84616	0.0681	10	0.87932	D	0	-7.4733	16.3829	0.83481	1.0:0.0:0.0:0.0	.	38	Q9NXU5	ARL15_HUMAN	T	38	ENSP00000433427:I38T;ENSP00000432680:I38T	ENSP00000433427:I38T	I	-	2	0	ARL15	53503451	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.305000	0.96197	2.271000	0.75665	0.459000	0.35465	ATA	ARL15	-	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR	ENSG00000185305		0.493	ARL15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL15	HGNC	protein_coding	OTTHUMT00000368432.2	205	0.00	0	A	NM_019087		53467694	53467694	-1	no_errors	ENST00000504924	ensembl	human	known	69_37n	missense	32	17.95	7	SNP	1.000	G
ARL15	54622	genome.wustl.edu	37	5	53606316	53606316	+	5'UTR	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:53606316G>A	ENST00000504924.1	-	0	87				ARL15_ENST00000510591.2_5'Flank|ARL15_ENST00000502271.1_5'UTR|ARL15_ENST00000507646.2_5'UTR	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15						small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				acatccggcagcctaaagcat	0.557																																						dbGAP											0													37.0	40.0	39.0					5																	53606316		1903	4125	6028	-	-	-	SO:0001623	5_prime_UTR_variant	0			BC026093	CCDS54850.1	5p15.2	2014-05-09	2005-11-03	2005-11-03		ENSG00000185305		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25945	protein-coding gene	gene with protein product			"""ADP-ribosylation factor related protein 2"""	ARFRP2		12477932	Standard	NM_019087		Approved	FLJ20051	uc003jpg.1	Q9NXU5		ENST00000504924.1:c.-7C>T	5.37:g.53606316G>A			Q6IAD0	RNA	SNP	-	NULL	ENST00000504924.1	37	NULL	CCDS54850.1	5																																																																																			ARL15	-	-	ENSG00000185305		0.557	ARL15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL15	HGNC	protein_coding	OTTHUMT00000368432.2	52	0.00	0	G	NM_019087		53606316	53606316	-1	no_errors	ENST00000502271	ensembl	human	known	69_37n	rna	85	21.30	23	SNP	1.000	A
ARMC6	93436	genome.wustl.edu	37	19	19166169	19166169	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:19166169C>T	ENST00000535612.1	+	7	1551	c.1119C>T	c.(1117-1119)atC>atT	p.I373I	ARMC6_ENST00000546344.1_Silent_p.I280I|ARMC6_ENST00000269932.6_Silent_p.I348I|ARMC6_ENST00000392335.2_Silent_p.I348I|ARMC6_ENST00000392336.3_Silent_p.I373I	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	373					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CGGAGTCCATCGTGGCTGCTA	0.607																																						dbGAP											0													110.0	86.0	94.0					19																	19166169		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.1119C>T	19.37:g.19166169C>T			B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R37C	ENST00000535612.1	37	c.109	CCDS56089.1	19	.	.	.	.	.	.	.	.	.	.	C	5.631	0.301139	0.10678	.	.	ENSG00000105676	ENST00000535478;ENST00000535795	.	.	.	4.88	-3.94	0.04130	.	.	.	.	.	T	0.51058	0.1652	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47222	-0.9134	4	.	.	.	-23.2618	8.2604	0.31781	0.0971:0.2491:0.0:0.6538	.	.	.	.	C	63;37	.	.	R	+	1	0	ARMC6	19027169	0.658000	0.27402	0.962000	0.40283	0.368000	0.29767	-0.224000	0.09164	-1.094000	0.03054	-0.251000	0.11542	CGT	ARMC6	-	superfamily_ARM-type_fold	ENSG00000105676		0.607	ARMC6-001	KNOWN	basic|CCDS	protein_coding	ARMC6	HGNC	protein_coding	OTTHUMT00000403226.1	143	0.00	0	C	NM_033415		19166169	19166169	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000535795	ensembl	human	putative	69_37n	missense	147	14.04	24	SNP	0.957	T
ARMC7	79637	genome.wustl.edu	37	17	73124792	73124792	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:73124792C>A	ENST00000245543.1	+	3	558	c.256C>A	c.(256-258)Cca>Aca	p.P86T	ARMC7_ENST00000579096.1_3'UTR|NT5C_ENST00000579082.1_5'Flank|ARMC7_ENST00000581078.1_Silent_p.A64A	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	86						cytoplasm (GO:0005737)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			CAACCTGTGCCCAGACAGGGC	0.627																																						dbGAP											0													47.0	39.0	42.0					17																	73124792		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK025813	CCDS11714.1	17q25	2013-02-14				ENSG00000125449		"""Armadillo repeat containing"""	26168	protein-coding gene	gene with protein product						12477932	Standard	NM_024585		Approved	FLJ22160	uc002jmw.1	Q9H6L4		ENST00000245543.1:c.256C>A	17.37:g.73124792C>A	ENSP00000245543:p.Pro86Thr		B4DVA4	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	p.P86T	ENST00000245543.1	37	c.256	CCDS11714.1	17	.	.	.	.	.	.	.	.	.	.	C	7.038	0.561975	0.13498	.	.	ENSG00000125449	ENST00000245543	T	0.48522	0.81	4.82	-9.64	0.00541	Armadillo-like helical (1);Armadillo-type fold (1);	0.823681	0.11121	N	0.597473	T	0.26666	0.0652	L	0.34521	1.04	0.09310	N	0.999993	B	0.16603	0.018	B	0.18263	0.021	T	0.17167	-1.0378	10	0.10377	T	0.69	.	10.5657	0.45171	0.0:0.2413:0.4622:0.2964	.	86	Q9H6L4	ARMC7_HUMAN	T	86	ENSP00000245543:P86T	ENSP00000245543:P86T	P	+	1	0	ARMC7	70636387	0.026000	0.19158	0.000000	0.03702	0.941000	0.58515	-0.106000	0.10890	-3.829000	0.00102	-0.136000	0.14681	CCA	ARMC7	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000125449		0.627	ARMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC7	HGNC	protein_coding	OTTHUMT00000445846.1	68	0.00	0	C	NM_024585		73124792	73124792	+1	no_errors	ENST00000245543	ensembl	human	known	69_37n	missense	113	13.74	18	SNP	0.002	A
ARMC9	80210	genome.wustl.edu	37	2	232121298	232121298	+	Splice_Site	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:232121298G>A	ENST00000349938.4	+	10	1073		c.e10-1		ARMC9_ENST00000483477.1_Splice_Site	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9							extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CTTCCCCCCAGGCATCCACCA	0.443																																						dbGAP											0													173.0	142.0	153.0					2																	232121298		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.880-1G>A	2.37:g.232121298G>A			Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Splice_Site	SNP	-	e9-1	ENST00000349938.4	37	c.880-1	CCDS2484.1	2	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311907	0.23821	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000436339	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4392	0.83894	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARMC9	231829542	1.000000	0.71417	0.996000	0.52242	0.099000	0.18886	6.888000	0.75622	2.348000	0.79779	0.650000	0.86243	.	ARMC9	-	-	ENSG00000135931		0.443	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC9	HGNC	protein_coding	OTTHUMT00000256966.3	450	0.22	1	G	NM_025139	Intron	232121298	232121298	+1	no_errors	ENST00000349938	ensembl	human	known	69_37n	splice_site	542	14.91	95	SNP	1.000	A
ARSD	414	genome.wustl.edu	37	X	2825381	2825381	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:2825381C>T	ENST00000381154.1	-	10	1788	c.1713G>A	c.(1711-1713)ccG>ccA	p.P571P	ARSD-AS1_ENST00000414053.1_RNA	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	571					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCTGCAGCCACGGCTTCCACA	0.607																																						dbGAP											0													35.0	33.0	34.0					X																	2825381		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.1713G>A	X.37:g.2825381C>T			Q9UHJ8	Silent	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.P571	ENST00000381154.1	37	c.1713	CCDS35196.1	X																																																																																			ARSD	-	superfamily_Alkaline_phosphatase_core	ENSG00000006756		0.607	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSD	HGNC	protein_coding	OTTHUMT00000055636.1	76	0.00	0	C			2825381	2825381	-1	no_errors	ENST00000381154	ensembl	human	known	69_37n	silent	71	19.32	17	SNP	0.993	T
ASB17	127247	genome.wustl.edu	37	1	76387916	76387916	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:76387916delT	ENST00000284142.6	-	2	669	c.530delA	c.(529-531)aacfs	p.N177fs		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	177					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.N177fs*21(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						GTTGATAGGGTTTTTTTCTCT	0.368																																						dbGAP											1	Insertion - Frameshift(1)	ovary(1)											109.0	94.0	99.0					1																	76387916		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.530delA	1.37:g.76387916delT	ENSP00000284142:p.Asn177fs		B1APB8|Q8N0X5	Frame_Shift_Del	DEL	pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C	p.N177fs	ENST00000284142.6	37	c.530	CCDS671.1	1																																																																																			ASB17	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000154007		0.368	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB17	HGNC	protein_coding	OTTHUMT00000026982.1	107	0.00	0	T	NM_080868		76387916	76387916	-1	no_errors	ENST00000284142	ensembl	human	known	69_37n	frame_shift_del	64	29.67	27	DEL	0.996	-
ASF1A	25842	genome.wustl.edu	37	6	119228637	119228637	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:119228637delA	ENST00000229595.5	+	4	667	c.473delA	c.(472-474)gaafs	p.E158fs	MCM9_ENST00000316316.6_Intron	NM_014034.2	NP_054753.1	Q9Y294	ASF1A_HUMAN	anti-silencing function 1A histone chaperone	158	Required for interaction with HIRA.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|muscle cell differentiation (GO:0042692)|negative regulation of chromatin silencing (GO:0031936)|nucleosome assembly (GO:0006334)|osteoblast differentiation (GO:0001649)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		GATAACACAGAAAAACTGGAA	0.388																																						dbGAP											0													87.0	78.0	81.0					6																	119228637		1878	4109	5987	-	-	-	SO:0001589	frameshift_variant	0			AF279306	CCDS47469.1	6q22.31	2013-05-01	2013-05-01		ENSG00000111875	ENSG00000111875			20995	protein-coding gene	gene with protein product		609189	"""ASF1 anti-silencing function 1 homolog A (S. cerevisiae)"""			10810093, 11042152	Standard	NM_014034		Approved	DKFZP547E2110, CIA	uc011ebn.2	Q9Y294	OTTHUMG00000015470	ENST00000229595.5:c.473delA	6.37:g.119228637delA	ENSP00000229595:p.Glu158fs		Q6IA08|Q9P014	Frame_Shift_Del	DEL	pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like	p.K159fs	ENST00000229595.5	37	c.473	CCDS47469.1	6																																																																																			ASF1A	-	NULL	ENSG00000111875		0.388	ASF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASF1A	HGNC	protein_coding	OTTHUMT00000361910.1	173	0.00	0	A	NM_014034		119228637	119228637	+1	no_errors	ENST00000229595	ensembl	human	known	69_37n	frame_shift_del	37	17.78	8	DEL	1.000	-
ASF1B	55723	genome.wustl.edu	37	19	14231277	14231277	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:14231277G>A	ENST00000263382.3	-	4	1102	c.603C>T	c.(601-603)tgC>tgT	p.C201C	CTB-55O6.10_ENST00000590715.1_RNA|PRKACA_ENST00000308677.4_5'Flank|ASF1B_ENST00000592798.1_Silent_p.C142C|PRKACA_ENST00000590853.1_5'Flank	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	201					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						GCAGTTAGATGCAGTCCATGG	0.647																																						dbGAP											0													40.0	43.0	42.0					19																	14231277		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF279307	CCDS12306.1	19p13.12	2013-05-01	2013-05-01		ENSG00000105011	ENSG00000105011			20996	protein-coding gene	gene with protein product		609190	"""ASF1 anti-silencing function 1 homolog B (S. cerevisiae)"""			11897662, 11470414	Standard	NM_018154		Approved	FLJ10604	uc002mye.3	Q9NVP2	OTTHUMG00000150401	ENST00000263382.3:c.603C>T	19.37:g.14231277G>A			Q53G51|Q9NVZ0	Silent	SNP	pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like	p.C201	ENST00000263382.3	37	c.603	CCDS12306.1	19																																																																																			ASF1B	-	NULL	ENSG00000105011		0.647	ASF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASF1B	HGNC	protein_coding	OTTHUMT00000317946.1	115	0.00	0	G	NM_018154		14231277	14231277	-1	no_errors	ENST00000263382	ensembl	human	known	69_37n	silent	159	13.98	26	SNP	1.000	A
ASPG	374569	genome.wustl.edu	37	14	104571759	104571759	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:104571759C>A	ENST00000551177.1	+	10	1237	c.1145C>A	c.(1144-1146)tCc>tAc	p.S382Y	ASPG_ENST00000455920.2_Missense_Mutation_p.S382Y|ASPG_ENST00000546892.2_Missense_Mutation_p.S382Y|ASPG_ENST00000549809.1_3'UTR	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	382					asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GGTGGGGTCTCCTGGCTCCTC	0.677																																						dbGAP											0													24.0	31.0	29.0					14																	104571759		2096	4230	6326	-	-	-	SO:0001583	missense	0				CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"""Ankyrin repeat domain containing"""	20123	protein-coding gene	gene with protein product	"""60-kDa-lysophospholipase"""		"""chromosome 14 open reading frame 76"", ""asparaginase homolog (S. cerevisiae)"""	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.1145C>A	14.37:g.104571759C>A	ENSP00000450040:p.Ser382Tyr		B9EGQ2|Q8IV80	Missense_Mutation	SNP	pfam_Asparaginase/glutaminase,pfam_Ankyrin_rpt,superfamily_Asparaginase/glutaminase,superfamily_Ankyrin_rpt-contain_dom,smart_Asparaginase/glutaminase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Asparaginase/glutaminase,prints_Ankyrin_rpt,tigrfam_AsnASEI	p.S382Y	ENST00000551177.1	37	c.1145	CCDS45170.2	14	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404237	0.62288	.	.	ENSG00000166183	ENST00000551177;ENST00000299234;ENST00000546892;ENST00000455920	T;T;T	0.38722	1.12;1.52;1.12	4.1	4.1	0.47936	Ankyrin repeat-containing domain (1);	0.180613	0.47455	D	0.000233	T	0.28366	0.0701	N	0.08118	0	0.09310	N	1	P;P;P;P	0.50443	0.935;0.818;0.886;0.692	P;B;B;B	0.46144	0.505;0.232;0.409;0.296	T	0.14755	-1.0461	10	0.87932	D	0	-8.1237	11.8125	0.52192	0.0:1.0:0.0:0.0	.	382;382;382;410	G3V1Y8;Q86U10;Q86U10-3;E5RFC2	.;LPP60_HUMAN;.;.	Y	382;410;382;382	ENSP00000450040:S382Y;ENSP00000448911:S382Y;ENSP00000389003:S382Y	ENSP00000299234:S410Y	S	+	2	0	ASPG	103641512	0.000000	0.05858	0.014000	0.15608	0.282000	0.26991	0.554000	0.23407	1.825000	0.53177	0.462000	0.41574	TCC	ASPG	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000166183		0.677	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPG	HGNC	protein_coding	OTTHUMT00000407005.1	115	0.00	0	C	NM_001080464		104571759	104571759	+1	no_errors	ENST00000455920	ensembl	human	known	69_37n	missense	126	16.99	26	SNP	0.014	A
ASPSCR1	79058	genome.wustl.edu	37	17	79967367	79967367	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:79967367G>A	ENST00000306739.4	+	9	1191	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H	ASPSCR1_ENST00000306729.7_Missense_Mutation_p.R365H|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.R288H	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	365	Interaction with GLUT4. {ECO:0000250}.				glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CACAGGAAGCGCCTGGAAGAA	0.642			T	TFE3	alveolar soft part sarcoma																																	dbGAP		Dom	yes		17	17q25	79058	"""alveolar soft part sarcoma chromosome region, candidate 1"""		M	0													24.0	23.0	23.0					17																	79967367		2184	4283	6467	-	-	-	SO:0001583	missense	0			AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.1094G>A	17.37:g.79967367G>A	ENSP00000302176:p.Arg365His		A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	pfam_TUG,pfam_UBX,pfscan_UBX	p.R365H	ENST00000306739.4	37	c.1094	CCDS11796.1	17	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563018	0.86335	.	.	ENSG00000169696	ENST00000306739;ENST00000306729;ENST00000344865	T;T	0.12569	2.67;2.67	4.89	4.89	0.63831	.	0.188699	0.47852	D	0.000212	T	0.35770	0.0943	M	0.68952	2.095	0.43808	D	0.996368	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0	P;D;D;P;D	0.72625	0.898;0.978;0.929;0.904;0.955	T	0.06250	-1.0837	10	0.66056	D	0.02	-22.2458	15.9839	0.80133	0.0:0.0:1.0:0.0	.	288;288;365;365;288	Q9BZE9-3;Q9BZE9-4;Q9BZE9-2;Q9BZE9;C9JAL9	.;.;.;ASPC1_HUMAN;.	H	365;365;288	ENSP00000302176:R365H;ENSP00000306625:R365H	ENSP00000306625:R365H	R	+	2	0	ASPSCR1	77560656	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.484000	0.53201	2.527000	0.85204	0.655000	0.94253	CGC	ASPSCR1	-	NULL	ENSG00000169696		0.642	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPSCR1	HGNC	protein_coding	OTTHUMT00000441972.1	16	0.00	0	G	NM_024083		79967367	79967367	+1	no_errors	ENST00000306729	ensembl	human	known	69_37n	missense	43	27.12	16	SNP	1.000	A
ATAD3A	55210	genome.wustl.edu	37	1	1469367	1469367	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:1469367A>G	ENST00000378755.5	+	16	1914	c.1820A>G	c.(1819-1821)cAa>cGa	p.Q607R	ATAD3A_ENST00000378756.3_Missense_Mutation_p.Q559R|ATAD3A_ENST00000536055.1_Missense_Mutation_p.Q480R	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	607					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		ACCCGCGTGCAAGATGCTGTC	0.667																																						dbGAP											0													53.0	53.0	53.0					1																	1469367		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"""ATPases / AAA-type"""	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.1820A>G	1.37:g.1469367A>G	ENSP00000368030:p.Gln607Arg		B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Missense_Mutation	SNP	pfam_DUF3523,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.Q607R	ENST00000378755.5	37	c.1820	CCDS31.1	1	.	.	.	.	.	.	.	.	.	.	-	2.931	-0.221038	0.06061	.	.	ENSG00000197785	ENST00000378756;ENST00000378755;ENST00000378759;ENST00000536055	D;D;D	0.94497	-3.17;-3.06;-3.44	3.9	3.9	0.45041	.	0.333537	0.26828	U	0.022298	D	0.86908	0.6046	N	0.20328	0.56	0.22728	N	0.998802	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.72673	-0.4222	10	0.17369	T	0.5	.	8.7852	0.34816	0.6603:0.3397:0.0:0.0	.	559;607	D2K8Q1;Q9NVI7	.;ATD3A_HUMAN	R	559;607;236;480	ENSP00000368031:Q559R;ENSP00000368030:Q607R;ENSP00000439290:Q480R	ENSP00000368030:Q607R	Q	+	2	0	ATAD3A	1459230	0.824000	0.29247	0.671000	0.29857	0.045000	0.14185	2.181000	0.42547	1.551000	0.49450	0.391000	0.25812	CAA	ATAD3A	-	NULL	ENSG00000197785		0.667	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	ATAD3A	HGNC	protein_coding	OTTHUMT00000001365.1	117	0.00	0	A	NM_018188		1469367	1469367	+1	no_errors	ENST00000378755	ensembl	human	known	69_37n	missense	165	11.70	22	SNP	0.984	G
ATOH8	84913	genome.wustl.edu	37	2	85991299	85991299	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:85991299G>A	ENST00000306279.3	+	2	1250	c.954G>A	c.(952-954)aaG>aaA	p.K318K	ATOH8_ENST00000463422.1_3'UTR	NM_032827.6	NP_116216.2	Q96SQ7	ATOH8_HUMAN	atonal homolog 8 (Drosophila)	318					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GTGCCAAGAAGCGCAAGGTAT	0.627																																						dbGAP											0													49.0	47.0	47.0					2																	85991299		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074681	CCDS1985.1	2p11.2	2013-05-21			ENSG00000168874	ENSG00000168874		"""Basic helix-loop-helix proteins"""	24126	protein-coding gene	gene with protein product	"""basic helix loop helix transcription factor 6"""					12419857	Standard	NM_032827		Approved	HATH6, FLJ14708, bHLHa21	uc002sqn.3	Q96SQ7	OTTHUMG00000130178	ENST00000306279.3:c.954G>A	2.37:g.85991299G>A			Q504S2|Q659B0	Silent	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.K318	ENST00000306279.3	37	c.954	CCDS1985.1	2																																																																																			ATOH8	-	NULL	ENSG00000168874		0.627	ATOH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATOH8	HGNC	protein_coding	OTTHUMT00000252496.1	83	0.00	0	G	NM_032827		85991299	85991299	+1	no_errors	ENST00000306279	ensembl	human	known	69_37n	silent	98	14.04	16	SNP	1.000	A
ATP10A	57194	genome.wustl.edu	37	15	25959294	25959294	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:25959294C>T	ENST00000356865.6	-	10	1982	c.1871G>A	c.(1870-1872)aGc>aAc	p.S624N		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	624					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCTCCCGATGCTGCTGCAGCC	0.622																																						dbGAP											0													43.0	48.0	46.0					15																	25959294		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1871G>A	15.37:g.25959294C>T	ENSP00000349325:p.Ser624Asn		Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.S624N	ENST00000356865.6	37	c.1871	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537655	0.45176	.	.	ENSG00000206190	ENST00000356865	T	0.11930	2.73	4.21	3.29	0.37713	HAD-like domain (1);	0.166659	0.64402	D	0.000004	T	0.25901	0.0631	M	0.82823	2.61	0.45284	D	0.998282	B	0.31769	0.339	B	0.44224	0.444	T	0.02132	-1.1208	10	0.26408	T	0.33	-28.1726	9.4417	0.38673	0.0:0.8274:0.0:0.1726	.	624	O60312	AT10A_HUMAN	N	624	ENSP00000349325:S624N	ENSP00000349325:S624N	S	-	2	0	ATP10A	23510387	1.000000	0.71417	0.820000	0.32676	0.393000	0.30537	4.477000	0.60223	1.006000	0.39211	-0.136000	0.14681	AGC	ATP10A	-	superfamily_HAD-like_dom	ENSG00000206190		0.622	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	55	0.00	0	C	NM_024490		25959294	25959294	-1	no_errors	ENST00000356865	ensembl	human	known	69_37n	missense	55	17.91	12	SNP	1.000	T
ATP1B4	23439	genome.wustl.edu	37	X	119512629	119512629	+	Splice_Site	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:119512629G>A	ENST00000218008.3	+	7	969		c.e7+1		ATP1B4_ENST00000361319.3_Splice_Site|ATP1B4_ENST00000539306.1_Splice_Site	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide						monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						ACTGACTCACGTAAGCTGTAT	0.468																																						dbGAP											0													135.0	114.0	121.0					X																	119512629		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.912+1G>A	X.37:g.119512629G>A			Q17RR0|Q9UN41	Splice_Site	SNP	-	e7+1	ENST00000218008.3	37	c.912+1	CCDS48158.1	X	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210266	0.79240	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8613	0.88781	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP1B4	119396657	1.000000	0.71417	0.990000	0.47175	0.918000	0.54935	8.378000	0.90144	2.436000	0.82500	0.600000	0.82982	.	ATP1B4	-	-	ENSG00000101892		0.468	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1B4	HGNC	protein_coding	OTTHUMT00000058095.1	199	0.00	0	G	NM_001142447	Intron	119512629	119512629	+1	no_errors	ENST00000218008	ensembl	human	known	69_37n	splice_site	23	23.33	7	SNP	1.000	A
ATP2C1	27032	genome.wustl.edu	37	3	130653488	130653488	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:130653488T>C	ENST00000510168.1	+	5	807	c.257T>C	c.(256-258)cTg>cCg	p.L86P	ATP2C1_ENST00000328560.8_Missense_Mutation_p.L86P|ATP2C1_ENST00000507488.2_Missense_Mutation_p.L70P|ATP2C1_ENST00000422190.2_Missense_Mutation_p.L86P|ATP2C1_ENST00000393221.4_Missense_Mutation_p.L120P|ATP2C1_ENST00000504381.1_Missense_Mutation_p.L31P|ATP2C1_ENST00000428331.2_Missense_Mutation_p.L86P|ATP2C1_ENST00000505330.1_Missense_Mutation_p.L70P|ATP2C1_ENST00000513801.1_Missense_Mutation_p.L70P|ATP2C1_ENST00000508532.1_Missense_Mutation_p.L86P|ATP2C1_ENST00000533801.2_Missense_Mutation_p.L81P|ATP2C1_ENST00000359644.3_Missense_Mutation_p.L86P|ATP2C1_ENST00000504948.1_Missense_Mutation_p.L70P			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	86					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTTATTATGCTGCTTCTGGCT	0.328									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	dbGAP											0													122.0	111.0	115.0					3																	130653488		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.257T>C	3.37:g.130653488T>C	ENSP00000427461:p.Leu86Pro		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr	p.L120P	ENST00000510168.1	37	c.359	CCDS46914.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.5|23.5	4.423755|4.423755	0.83667|0.83667	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000504612|ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000505072;ENST00000509662;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000508297;ENST00000347421	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.90444	.|-1.69;-2.67;-1.69;-1.69;-2.67;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	5.78|5.78	4.58|4.58	0.56647|0.56647	.|ATPase, P-type cation-transporter, N-terminal (2);ATPase, P-type,  transmembrane domain (1);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.96352|0.96352	0.8810|0.8810	H|H	0.94964|0.94964	3.605|3.605	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|1.0;1.0;0.999;1.0;0.999;1.0;1.0	D|D	0.97157|0.97157	0.9835|0.9835	5|10	.|0.87932	.|D	.|0	.|.	13.1478|13.1478	0.59472|0.59472	0.0:0.0:0.1329:0.8671|0.0:0.0:0.1329:0.8671	.|.	.|120;81;120;86;120;86;86	.|G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.|.;.;.;.;.;.;AT2C1_HUMAN	R|P	40|70;31;70;120;81;86;86;70;70;86;86;86;86;86;86;70;85	.|ENSP00000423774:L70P;ENSP00000425320:L31P;ENSP00000421326:L70P;ENSP00000376914:L120P;ENSP00000432956:L81P;ENSP00000427461:L86P;ENSP00000424783:L86P;ENSP00000423330:L70P;ENSP00000422872:L70P;ENSP00000427625:L86P;ENSP00000426849:L86P;ENSP00000329664:L86P;ENSP00000395809:L86P;ENSP00000352665:L86P;ENSP00000402677:L86P;ENSP00000421261:L70P	.|ENSP00000329664:L86P	C|L	+|+	1|2	0|0	ATP2C1|ATP2C1	132136178|132136178	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	6.167000|6.167000	0.71902|0.71902	2.200000|2.200000	0.70718|0.70718	0.460000|0.460000	0.39030|0.39030	TGC|CTG	ATP2C1	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Ca-transp_PMR1	ENSG00000017260		0.328	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATP2C1	HGNC	protein_coding	OTTHUMT00000356648.2	199	0.00	0	T	NM_001001486		130653488	130653488	+1	no_errors	ENST00000393221	ensembl	human	known	69_37n	missense	141	10.19	16	SNP	1.000	C
ATP5F1	515	genome.wustl.edu	37	1	112002134	112002134	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:112002134A>T	ENST00000369722.3	+	6	1175	c.569A>T	c.(568-570)tAt>tTt	p.Y190F	ATP5F1_ENST00000369721.4_3'UTR|ATP5F1_ENST00000483994.1_Missense_Mutation_p.Y129F	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	190					ATP catabolic process (GO:0006200)|ATP synthesis coupled proton transport (GO:0015986)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		TATAGAGTATATAAGGAAGTA	0.373																																						dbGAP											0													67.0	75.0	73.0					1																	112002134		2203	4297	6500	-	-	-	SO:0001583	missense	0			X60221	CCDS836.1	1p13.2	2012-10-12	2010-06-11		ENSG00000116459	ENSG00000116459		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	840	protein-coding gene	gene with protein product		603270	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1"""			1831354	Standard	XM_005270929		Approved		uc001ebc.3	P24539	OTTHUMG00000011745	ENST00000369722.3:c.569A>T	1.37:g.112002134A>T	ENSP00000358737:p.Tyr190Phe		Q9BQ68|Q9BRU8	Missense_Mutation	SNP	pfam_ATPase_F0-cplx_bsu_mt	p.Y190F	ENST00000369722.3	37	c.569	CCDS836.1	1	.	.	.	.	.	.	.	.	.	.	A	11.89	1.772682	0.31411	.	.	ENSG00000116459	ENST00000369722;ENST00000483994	T;T	0.32023	1.47;1.47	4.85	4.85	0.62838	.	0.176667	0.50627	D	0.000109	T	0.19725	0.0474	M	0.73319	2.225	0.43403	D	0.995536	B;B	0.30727	0.292;0.292	B;B	0.34590	0.186;0.186	T	0.05852	-1.0860	10	0.12430	T	0.62	.	14.394	0.66999	1.0:0.0:0.0:0.0	.	190;190	Q08ET0;P24539	.;AT5F1_HUMAN	F	190;129	ENSP00000358737:Y190F;ENSP00000420366:Y129F	ENSP00000358737:Y190F	Y	+	2	0	ATP5F1	111803657	1.000000	0.71417	0.898000	0.35279	0.076000	0.17211	5.057000	0.64294	1.956000	0.56807	0.383000	0.25322	TAT	ATP5F1	-	pfam_ATPase_F0-cplx_bsu_mt	ENSG00000116459		0.373	ATP5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5F1	HGNC	protein_coding	OTTHUMT00000032455.1	100	0.00	0	A	NM_001688		112002134	112002134	+1	no_errors	ENST00000369722	ensembl	human	known	69_37n	missense	20	16.67	4	SNP	1.000	T
ATP6V0A4	50617	genome.wustl.edu	37	7	138437532	138437532	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:138437532A>G	ENST00000310018.2	-	11	1149	c.867T>C	c.(865-867)gcT>gcC	p.A289A	ATP6V0A4_ENST00000393054.1_Silent_p.A289A|ATP6V0A4_ENST00000353492.4_Silent_p.A289A	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	289					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCCAGTTGGCAGCGGCTTCCT	0.507																																						dbGAP											0													86.0	76.0	80.0					7																	138437532		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.867T>C	7.37:g.138437532A>G			A4D1R4|A8KA80|Q32M47	Silent	SNP	pfam_ATPase_V0/A0_a	p.A289	ENST00000310018.2	37	c.867	CCDS5849.1	7																																																																																			ATP6V0A4	-	pfam_ATPase_V0/A0_a	ENSG00000105929		0.507	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A4	HGNC	protein_coding	OTTHUMT00000347514.1	150	0.00	0	A	NM_020632		138437532	138437532	-1	no_errors	ENST00000310018	ensembl	human	known	69_37n	silent	98	10.09	11	SNP	0.387	G
ATRAID	51374	genome.wustl.edu	37	2	27436151	27436151	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:27436151A>G	ENST00000606999.1	+	2	264	c.206A>G	c.(205-207)aAg>aGg	p.K69R	ATRAID_ENST00000405489.3_Missense_Mutation_p.K11R|SLC5A6_ENST00000408041.1_5'Flank|ATRAID_ENST00000380171.3_Missense_Mutation_p.K124R|SLC5A6_ENST00000310574.3_5'Flank	NM_001170795.1	NP_001164266.1	Q6UW56	ARAID_HUMAN	all-trans retinoic acid-induced differentiation factor	69					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)											CTGAATCAGAAGGGCACCATC	0.468																																						dbGAP											0													80.0	78.0	79.0					2																	27436151		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021237	CCDS1741.1, CCDS46243.1, CCDS62877.1	2p23.3	2012-08-01	2012-07-30	2012-07-30	ENSG00000138085	ENSG00000138085			24090	protein-coding gene	gene with protein product	"""apoptosis-related protein 3"""		"""chromosome 2 open reading frame 28"""	C2orf28		17524364, 21723284	Standard	NM_016085		Approved	HSPC013, p18, APR3	uc002rjf.3	Q6UW56	OTTHUMG00000128405	ENST00000606999.1:c.206A>G	2.37:g.27436151A>G	ENSP00000476080:p.Lys69Arg		A8C1S2|A8K779|Q96FF6|Q96RT2|Q9Y2R7|Q9Y5L7	Missense_Mutation	SNP	pfscan_EG-like_dom	p.K124R	ENST00000606999.1	37	c.371		2	.	.	.	.	.	.	.	.	.	.	A	13.21	2.170560	0.38315	.	.	ENSG00000138085	ENST00000380171;ENST00000405489;ENST00000419744	T;T	0.44482	1.57;0.92	5.14	2.7	0.31948	.	0.618582	0.18241	N	0.147222	T	0.22475	0.0542	N	0.19112	0.55	0.23082	N	0.998326	B;B	0.09022	0.001;0.002	B;B	0.10450	0.001;0.005	T	0.14531	-1.0469	10	0.19590	T	0.45	-13.3759	4.9386	0.13954	0.7152:0.1888:0.096:0.0	.	69;124	Q6UW56;Q6UW56-3	APR3_HUMAN;.	R	124;11;11	ENSP00000369518:K124R;ENSP00000384033:K11R	ENSP00000369518:K124R	K	+	2	0	C2orf28	27289655	0.991000	0.36638	0.998000	0.56505	0.993000	0.82548	1.679000	0.37597	0.866000	0.35629	0.459000	0.35465	AAG	ATRAID	-	NULL	ENSG00000138085		0.468	ATRAID-007	NOVEL	basic|appris_principal	protein_coding	ATRAID	HGNC	protein_coding	OTTHUMT00000470709.1	140	0.00	0	A	NM_016085		27436151	27436151	+1	no_errors	ENST00000380171	ensembl	human	known	69_37n	missense	192	11.47	25	SNP	0.994	G
ATXN1	6310	genome.wustl.edu	37	6	16326645	16326645	+	Missense_Mutation	SNP	C	C	T	rs201516255		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:16326645C>T	ENST00000244769.4	-	8	2833	c.1897G>A	c.(1897-1899)Gtc>Atc	p.V633I	ATXN1_ENST00000436367.1_Missense_Mutation_p.V633I	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	633	AXH. {ECO:0000255|PROSITE- ProRule:PRU00496}.|Interaction with USP7.|RNA-binding.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TGCTCCCCGACGGCGAACTGT	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		18801	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													63.0	66.0	65.0					6																	16326645		2203	4300	6503	-	-	-	SO:0001583	missense	0			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.1897G>A	6.37:g.16326645C>T	ENSP00000244769:p.Val633Ile		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1	p.V633I	ENST00000244769.4	37	c.1897	CCDS34342.1	6	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.23	3.786818	0.70337	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.80653	-1.4;-1.4	4.15	4.15	0.48705	Ataxin, AXH domain (1);Ataxin-1/HBP1 module (AXH) (3);	0.127226	0.53938	D	0.000058	T	0.57519	0.2059	L	0.33753	1.03	0.80722	D	1	P	0.46912	0.886	B	0.28232	0.087	T	0.71686	-0.4518	10	0.87932	D	0	-27.2016	16.9893	0.86349	0.0:1.0:0.0:0.0	.	633	P54253	ATX1_HUMAN	I	633	ENSP00000244769:V633I;ENSP00000416360:V633I	ENSP00000244769:V633I	V	-	1	0	ATXN1	16434624	1.000000	0.71417	0.750000	0.31169	0.946000	0.59487	7.171000	0.77595	2.307000	0.77673	0.561000	0.74099	GTC	ATXN1	-	pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1	ENSG00000124788		0.582	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN1	HGNC	protein_coding	OTTHUMT00000039943.3	199	0.00	0	C	NM_000332		16326645	16326645	-1	no_errors	ENST00000244769	ensembl	human	known	69_37n	missense	244	16.15	47	SNP	0.990	T
ATXN2	6311	genome.wustl.edu	37	12	111893834	111893834	+	Splice_Site	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:111893834T>C	ENST00000377617.3	-	23	3904	c.3743A>G	c.(3742-3744)cAg>cGg	p.Q1248R	ATXN2_ENST00000535949.1_Splice_Site_p.Q941R|ATXN2_ENST00000608853.1_Splice_Site_p.Q1088R|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000389153.4_Splice_Site_p.Q985R|ATXN2_ENST00000542287.2_Splice_Site_p.Q983R	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1248					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGGTATTACCTGAGGTACGTG	0.502																																						dbGAP											0													241.0	222.0	229.0					12																	111893834		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3744+1A>G	12.37:g.111893834T>C			A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.Q1248R	ENST00000377617.3	37	c.3743	CCDS31902.1	12	.	.	.	.	.	.	.	.	.	.	T	26.0	4.699518	0.88830	.	.	ENSG00000204842	ENST00000389154;ENST00000389153;ENST00000377617;ENST00000482777;ENST00000542287;ENST00000535949;ENST00000550844	D	0.81996	-1.56	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.87172	0.6111	L	0.36672	1.1	0.80722	D	1	P;P;B;D;D	0.69078	0.902;0.651;0.281;0.997;0.992	P;B;B;D;D	0.77557	0.52;0.165;0.06;0.99;0.979	D	0.88254	0.2918	10	0.62326	D	0.03	-6.4193	16.065	0.80865	0.0:0.0:0.0:1.0	.	249;1248;941;983;985	Q99700-3;Q99700;Q24JQ7;F8VQP2;F8WB06	.;ATX2_HUMAN;.;.;.	R	303;985;1248;249;983;941;173	ENSP00000366843:Q1248R	ENSP00000366843:Q1248R	Q	-	2	0	ATXN2	110378217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.302000	0.78861	2.257000	0.74773	0.460000	0.39030	CAG	ATXN2	-	NULL	ENSG00000204842		0.502	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN2	HGNC	protein_coding	OTTHUMT00000257351.3	753	0.00	0	T	NM_002973	Missense_Mutation	111893834	111893834	-1	no_errors	ENST00000377617	ensembl	human	known	69_37n	missense	437	12.40	62	SNP	1.000	C
ATXN3	4287	genome.wustl.edu	37	14	92548745	92548745	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:92548745T>G	ENST00000532032.1	-	8	683	c.674A>C	c.(673-675)gAt>gCt	p.D225A	ATXN3_ENST00000545170.1_Missense_Mutation_p.D225A|ATXN3_ENST00000340660.6_Missense_Mutation_p.D170A|ATXN3_ENST00000429774.2_Missense_Mutation_p.D210A|ATXN3_ENST00000393287.5_Missense_Mutation_p.D225A|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000502250.1_Missense_Mutation_p.D46A|ATXN3_ENST00000503767.1_Missense_Mutation_p.D210A			P54252	ATX3_HUMAN	ataxin 3	225					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		ATCCTCCTCATCTTCGTCTAA	0.448																																					Esophageal Squamous(190;752 2094 29897 44875 49530)	dbGAP											0													168.0	144.0	152.0					14																	92548745		2203	4300	6503	-	-	-	SO:0001583	missense	0			U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"""Ataxins"""	7106	protein-coding gene	gene with protein product		607047	"""Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"""	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.674A>C	14.37:g.92548745T>G	ENSP00000437157:p.Asp225Ala		A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Missense_Mutation	SNP	pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin	p.D225A	ENST00000532032.1	37	c.674		14	.	.	.	.	.	.	.	.	.	.	T	23.8	4.458934	0.84317	.	.	ENSG00000066427	ENST00000545278;ENST00000539555;ENST00000537884;ENST00000545170;ENST00000447800;ENST00000359819;ENST00000393289;ENST00000429774;ENST00000539454;ENST00000393287;ENST00000502250;ENST00000503767;ENST00000340660;ENST00000532032;ENST00000555381;ENST00000557311;ENST00000554592;ENST00000554672;ENST00000553491;ENST00000556220;ENST00000506466	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.46819	1.81;1.91;1.87;1.13;1.91;1.57;1.48;1.09;0.86;1.57;1.1;1.05;1.04;1.28	5.29	5.29	0.74685	Ubiquitin interacting motif (3);	0.241081	0.48286	D	0.000200	T	0.58337	0.2115	M	0.65498	2.005	0.80722	D	1	P;P;B;P;P	0.41393	0.635;0.675;0.443;0.748;0.748	P;P;P;P;P	0.49012	0.515;0.555;0.598;0.492;0.575	T	0.61451	-0.7060	10	0.54805	T	0.06	.	15.2672	0.73672	0.0:0.0:0.0:1.0	.	225;210;225;170;225	P54252;E9PB63;F5H096;P54252-3;P54252-2	ATX3_HUMAN;.;.;.;.	A	225;225;225;225;225;225;225;210;224;225;46;210;170;225;155;46;224;127;174;119;159	ENSP00000445618:D225A;ENSP00000389376:D210A;ENSP00000376965:D225A;ENSP00000425322:D46A;ENSP00000426697:D210A;ENSP00000339110:D170A;ENSP00000437157:D225A;ENSP00000451001:D155A;ENSP00000450642:D46A;ENSP00000451385:D224A;ENSP00000451417:D127A;ENSP00000451996:D174A;ENSP00000450641:D119A;ENSP00000435571:D159A	ENSP00000339110:D170A	D	-	2	0	ATXN3	91618498	1.000000	0.71417	0.998000	0.56505	0.778000	0.44026	7.528000	0.81941	2.014000	0.59158	0.397000	0.26171	GAT	ATXN3	-	pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif	ENSG00000066427		0.448	ATXN3-015	KNOWN	basic	protein_coding	ATXN3	HGNC	protein_coding	OTTHUMT00000388065.1	219	0.00	0	T	NM_004993		92548745	92548745	-1	no_errors	ENST00000545170	ensembl	human	known	69_37n	missense	82	26.13	29	SNP	1.000	G
AUNIP	79000	genome.wustl.edu	37	1	26161810	26161810	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:26161810A>G	ENST00000374298.3	-	3	802	c.748T>C	c.(748-750)Tac>Cac	p.Y250H	AUNIP_ENST00000538789.1_Missense_Mutation_p.Y250H|AUNIP_ENST00000481602.1_Intron	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein	250	Interaction with AURKA.				spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)											GATTCCCTGTATGTTTGAAGG	0.453																																						dbGAP											0													76.0	74.0	75.0					1																	26161810		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 135"""	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372	ENST00000374298.3:c.748T>C	1.37:g.26161810A>G	ENSP00000363416:p.Tyr250His		C9EI59|Q53F70	Missense_Mutation	SNP	NULL	p.Y250H	ENST00000374298.3	37	c.748	CCDS266.1	1	.	.	.	.	.	.	.	.	.	.	A	3.553	-0.091348	0.07053	.	.	ENSG00000127423	ENST00000538789;ENST00000374298	T;T	0.53423	0.62;0.62	5.28	1.58	0.23477	.	0.453570	0.18822	N	0.130228	T	0.31949	0.0813	L	0.34521	1.04	0.09310	N	1	B	0.13594	0.008	B	0.16289	0.015	T	0.16719	-1.0393	10	0.36615	T	0.2	-2.9566	6.7807	0.23643	0.6923:0.0:0.3077:0.0	.	250	Q9H7T9	CA135_HUMAN	H	250	ENSP00000443647:Y250H;ENSP00000363416:Y250H	ENSP00000363416:Y250H	Y	-	1	0	C1orf135	26034397	0.000000	0.05858	0.005000	0.12908	0.027000	0.11550	0.208000	0.17415	0.464000	0.27142	0.473000	0.43528	TAC	AUNIP	-	NULL	ENSG00000127423		0.453	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AUNIP	HGNC	protein_coding	OTTHUMT00000019309.2	87	0.00	0	A	NM_024037		26161810	26161810	-1	no_errors	ENST00000538789	ensembl	human	known	69_37n	missense	29	12.12	4	SNP	0.001	G
AXL	558	genome.wustl.edu	37	19	41762429	41762429	+	Nonsense_Mutation	SNP	C	C	A	rs201240568		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:41762429C>A	ENST00000301178.4	+	18	2299	c.2109C>A	c.(2107-2109)taC>taA	p.Y703*	AXL_ENST00000593513.1_Nonsense_Mutation_p.Y435*|AXL_ENST00000359092.3_Nonsense_Mutation_p.Y694*	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	703	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGGACTACTACCGCCAGGGAC	0.537																																						dbGAP											0													223.0	179.0	194.0					19																	41762429		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2109C>A	19.37:g.41762429C>A	ENSP00000301178:p.Tyr703*		Q8N5L2|Q9UD27	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Y703*	ENST00000301178.4	37	c.2109	CCDS12575.1	19	.	.	.	.	.	.	.	.	.	.	C	39	7.665501	0.98422	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	.	.	.	4.6	1.24	0.21308	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3076	6.4839	0.22077	0.1481:0.6988:0.0:0.1531	.	.	.	.	X	703;694	.	ENSP00000301178:Y703X	Y	+	3	2	AXL	46454269	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.596000	0.36718	0.260000	0.21731	-0.293000	0.09583	TAC	AXL	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000167601		0.537	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXL	HGNC	protein_coding	OTTHUMT00000463323.2	400	0.50	2	C			41762429	41762429	+1	no_errors	ENST00000301178	ensembl	human	known	69_37n	nonsense	272	20.29	70	SNP	1.000	A
B4GALNT4	338707	genome.wustl.edu	37	11	380165	380165	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:380165G>A	ENST00000329962.6	+	17	2678	c.2678G>A	c.(2677-2679)cGc>cAc	p.R893H		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	893					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AACTTCGAGCGCTCCGCCGGG	0.701																																						dbGAP											0													17.0	22.0	20.0					11																	380165		2199	4297	6496	-	-	-	SO:0001583	missense	0			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2678G>A	11.37:g.380165G>A	ENSP00000328277:p.Arg893His		Q96LV2	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_PA14,smart_PA14	p.R893H	ENST00000329962.6	37	c.2678	CCDS7694.1	11	.	.	.	.	.	.	.	.	.	.	g	31	5.080082	0.94050	.	.	ENSG00000182272	ENST00000329962	T	0.37235	1.21	4.45	4.45	0.53987	.	0.059081	0.64402	D	0.000001	T	0.65291	0.2677	M	0.86268	2.805	0.54753	D	0.999985	D	0.89917	1.0	D	0.87578	0.998	T	0.73534	-0.3952	10	0.87932	D	0	-27.0461	17.4821	0.87675	0.0:0.0:1.0:0.0	.	893	Q76KP1	B4GN4_HUMAN	H	893	ENSP00000328277:R893H	ENSP00000328277:R893H	R	+	2	0	B4GALNT4	370165	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	7.320000	0.79064	2.179000	0.69175	0.561000	0.74099	CGC	B4GALNT4	-	pfam_Chond_GalNAc	ENSG00000182272		0.701	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT4	HGNC	protein_coding	OTTHUMT00000239289.2	18	0.00	0	G	NM_178537		380165	380165	+1	no_errors	ENST00000329962	ensembl	human	known	69_37n	missense	29	27.50	11	SNP	1.000	A
BAIAP2L1	55971	genome.wustl.edu	37	7	97939890	97939890	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:97939890G>A	ENST00000005260.8	-	9	1037	c.822C>T	c.(820-822)taC>taT	p.Y274Y	BAIAP2L1_ENST00000462558.1_5'UTR|RP4-607J23.2_ENST00000609873.1_RNA|RP4-607J23.2_ENST00000608882.1_RNA	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	274					filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			AAAGGGTGTCGTAATCTTTCC	0.408																																						dbGAP											0													86.0	92.0	90.0					7																	97939890		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.822C>T	7.37:g.97939890G>A			A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Silent	SNP	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.Y274	ENST00000005260.8	37	c.822	CCDS34687.1	7																																																																																			BAIAP2L1	-	NULL	ENSG00000006453		0.408	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAIAP2L1	HGNC	protein_coding	OTTHUMT00000334681.1	105	0.00	0	G	NM_018842		97939890	97939890	-1	no_errors	ENST00000005260	ensembl	human	known	69_37n	silent	203	14.64	35	SNP	0.434	A
BAIAP3	8938	genome.wustl.edu	37	16	1398245	1398245	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:1398245G>A	ENST00000324385.5	+	33	3561	c.3403G>A	c.(3403-3405)Ggg>Agg	p.G1135R	BAIAP3_ENST00000562208.1_Missense_Mutation_p.G1077R|BAIAP3_ENST00000397489.1_Missense_Mutation_p.G1117R|BAIAP3_ENST00000426824.3_Missense_Mutation_p.G1100R|BAIAP3_ENST00000421665.2_Missense_Mutation_p.G1064R|BAIAP3_ENST00000397488.2_Missense_Mutation_p.G1117R|BAIAP3_ENST00000568887.1_Missense_Mutation_p.G1072R	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1135					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)	p.G1135W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCAGGTGGGCGGGGGTGCAAG	0.716																																						dbGAP											1	Substitution - Missense(1)	central_nervous_system(1)											12.0	14.0	13.0					16																	1398245		2170	4279	6449	-	-	-	SO:0001583	missense	0			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.3403G>A	16.37:g.1398245G>A	ENSP00000324510:p.Gly1135Arg		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.G1135R	ENST00000324385.5	37	c.3403	CCDS10434.1	16	.	.	.	.	.	.	.	.	.	.	G	6.130	0.392257	0.11638	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.71934	-0.6;-0.6;-0.61;-0.6;-0.58	4.86	2.49	0.30216	.	0.434355	0.21799	N	0.068952	T	0.72053	0.3413	L	0.57536	1.79	0.09310	N	1	D;D;D;D	0.76494	0.999;0.997;0.999;0.999	P;P;P;P	0.60345	0.748;0.797;0.873;0.873	T	0.60146	-0.7320	10	0.13853	T	0.58	-31.2406	6.8634	0.24079	0.3245:0.0:0.6755:0.0	.	1064;1077;1135;1117	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	R	1100;1117;1135;1117;1064	ENSP00000407242:G1100R;ENSP00000380625:G1117R;ENSP00000324510:G1135R;ENSP00000380626:G1117R;ENSP00000409533:G1064R	ENSP00000324510:G1135R	G	+	1	0	BAIAP3	1338246	0.113000	0.22115	0.007000	0.13788	0.574000	0.36063	1.868000	0.39509	1.028000	0.39785	0.561000	0.74099	GGG	BAIAP3	-	NULL	ENSG00000007516		0.716	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3	30	0.00	0	G			1398245	1398245	+1	no_errors	ENST00000324385	ensembl	human	known	69_37n	missense	47	17.54	10	SNP	0.001	A
BBOX1	8424	genome.wustl.edu	37	11	27078797	27078797	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:27078797G>A	ENST00000529202.1	+	3	608	c.269G>A	c.(268-270)tGg>tAg	p.W90*	BBOX1_ENST00000525090.1_Nonsense_Mutation_p.W90*|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000263182.3_Nonsense_Mutation_p.W90*|BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000528583.1_Nonsense_Mutation_p.W90*			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	90					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	CAGGCTGATTGGCTGAAGAAA	0.393																																						dbGAP											0													148.0	150.0	150.0					11																	27078797		2202	4299	6501	-	-	-	SO:0001587	stop_gained	0			AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.269G>A	11.37:g.27078797G>A	ENSP00000435781:p.Trp90*		B2R8L7|D3DQZ1|Q6IBJ2	Nonsense_Mutation	SNP	pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase	p.W90*	ENST00000529202.1	37	c.269	CCDS7862.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.314195	0.97467	.	.	ENSG00000129151	ENST00000529202;ENST00000263182;ENST00000528583;ENST00000525090	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.2642	0.87081	0.0:0.0:1.0:0.0	.	.	.	.	X	90	.	ENSP00000263182:W90X	W	+	2	0	BBOX1	27035373	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.159000	0.77483	2.676000	0.91093	0.561000	0.74099	TGG	BBOX1	-	tigrfam_2-oxoglut_dOase	ENSG00000129151		0.393	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBOX1	HGNC	protein_coding	OTTHUMT00000387946.1	160	0.00	0	G	NM_003986		27078797	27078797	+1	no_errors	ENST00000263182	ensembl	human	known	69_37n	nonsense	47	12.96	7	SNP	1.000	A
BBS2	583	genome.wustl.edu	37	16	56518677	56518679	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:56518677_56518679delGAA	ENST00000245157.5	-	17	2580_2582	c.2160_2162delTTC	c.(2158-2163)tcttcc>tcc	p.720_721SS>S	BBS2_ENST00000568104.1_In_Frame_Del_p.674_675SS>S	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	720					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						CCTCACCTAGGAAGAAGCTGTCC	0.453									Bardet-Biedl syndrome																													dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.2160_2162delTTC	16.37:g.56518680_56518682delGAA	ENSP00000245157:p.Ser721del		Q96CM0|Q96SN9	In_Frame_Del	DEL	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot	p.S721in_frame_del	ENST00000245157.5	37	c.2162_2160	CCDS32451.1	16																																																																																			BBS2	-	pirsf_Bardet-Biedl_syndrome_2_prot	ENSG00000125124		0.453	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS2	HGNC	protein_coding	OTTHUMT00000434386.2	210	0.00	0	GAA	NM_031885		56518677	56518679	-1	no_errors	ENST00000245157	ensembl	human	known	69_37n	in_frame_del	38	11.63	5	DEL	0.993:1.000:1.000	-
BBS7	55212	genome.wustl.edu	37	4	122749602	122749602	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:122749602G>A	ENST00000264499.4	-	17	2028	c.1845C>T	c.(1843-1845)taC>taT	p.Y615Y	BBS7_ENST00000506636.1_Silent_p.Y615Y	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	615					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AAAGCAACTGGTACTCCAGCT	0.368									Bardet-Biedl syndrome																													dbGAP											0													135.0	134.0	134.0					4																	122749602		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.1845C>T	4.37:g.122749602G>A			Q4W5P8|Q8N581|Q9NVI4	Silent	SNP	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot	p.Y615	ENST00000264499.4	37	c.1845	CCDS3724.1	4																																																																																			BBS7	-	pirsf_Bardet-Biedl_syndrome_7_prot	ENSG00000138686		0.368	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS7	HGNC	protein_coding	OTTHUMT00000256716.1	200	0.00	0	G			122749602	122749602	-1	no_errors	ENST00000264499	ensembl	human	known	69_37n	silent	159	16.75	32	SNP	1.000	A
BCAR1	9564	genome.wustl.edu	37	16	75270832	75270832	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:75270832T>C	ENST00000162330.5	-	4	986	c.860A>G	c.(859-861)tAt>tGt	p.Y287C	BCAR1_ENST00000535626.2_Missense_Mutation_p.Y139C|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000393422.2_Missense_Mutation_p.Y305C|BCAR1_ENST00000420641.3_Missense_Mutation_p.Y305C|BCAR1_ENST00000538440.2_Missense_Mutation_p.Y287C|BCAR1_ENST00000393420.6_Missense_Mutation_p.Y287C|BCAR1_ENST00000418647.3_Missense_Mutation_p.Y333C|BCAR1_ENST00000546196.1_Missense_Mutation_p.Y258C|BCAR1_ENST00000542031.2_Missense_Mutation_p.Y285C	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	287	Substrate for kinases. {ECO:0000250}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGGCACGTCATACACCTCCAG	0.637																																						dbGAP											0													83.0	78.0	80.0					16																	75270832		2198	4300	6498	-	-	-	SO:0001583	missense	0			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.860A>G	16.37:g.75270832T>C	ENSP00000162330:p.Tyr287Cys		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.Y333C	ENST00000162330.5	37	c.998	CCDS10915.1	16	.	.	.	.	.	.	.	.	.	.	T	17.62	3.435949	0.62955	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	3.93	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.63686	0.2532	M	0.80847	2.515	0.58432	D	0.999995	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D;D;D;D	0.91635	0.998;0.997;0.993;0.997;0.999;0.999;0.997;0.987;0.993	T	0.68689	-0.5342	10	0.87932	D	0	-14.8679	11.0682	0.47987	0.0:0.0:0.0:1.0	.	305;139;333;285;287;305;287;287;77	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	C	287;305;305;287;333;139;287;285;258	ENSP00000162330:Y287C;ENSP00000377074:Y305C;ENSP00000392708:Y305C;ENSP00000443841:Y287C;ENSP00000391669:Y333C;ENSP00000440370:Y139C;ENSP00000377072:Y287C;ENSP00000440415:Y285C;ENSP00000442161:Y258C	ENSP00000162330:Y287C	Y	-	2	0	BCAR1	73828333	1.000000	0.71417	0.934000	0.37439	0.714000	0.41099	6.563000	0.73964	1.785000	0.52413	0.448000	0.29417	TAT	BCAR1	-	NULL	ENSG00000050820		0.637	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAR1	HGNC	protein_coding	OTTHUMT00000269017.1	195	0.00	0	T	NM_014567		75270832	75270832	-1	no_errors	ENST00000418647	ensembl	human	known	69_37n	missense	239	17.30	50	SNP	1.000	C
BCR	613	genome.wustl.edu	37	22	23651726	23651726	+	Intron	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr22:23651726C>T	ENST00000305877.8	+	17	3823				BCR_ENST00000436990.2_3'UTR|BCR_ENST00000359540.3_Intron	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region						actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	ATAGGGTGGCCTCTGTTCATT	0.592			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																	dbGAP		Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0													12.0	12.0	12.0					22																	23651726		692	1590	2282	-	-	-	SO:0001627	intron_variant	0				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.3072+56C>T	22.37:g.23651726C>T			P78501|Q12842|Q4LE80|Q6NZI3	RNA	SNP	-	NULL	ENST00000305877.8	37	NULL	CCDS13806.1	22																																																																																			BCR	-	-	ENSG00000186716		0.592	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	HGNC	protein_coding	OTTHUMT00000075819.1	54	0.00	0	C	NM_004327		23651726	23651726	+1	no_errors	ENST00000436990	ensembl	human	known	69_37n	rna	67	24.72	22	SNP	0.001	T
BDP1	55814	genome.wustl.edu	37	5	70806220	70806220	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:70806220C>G	ENST00000358731.4	+	17	3564	c.3301C>G	c.(3301-3303)Cag>Gag	p.Q1101E	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1101	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AATATCCCCACAGGAAAATGG	0.458																																						dbGAP											0													73.0	74.0	73.0					5																	70806220		1819	4082	5901	-	-	-	SO:0001583	missense	0			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.3301C>G	5.37:g.70806220C>G	ENSP00000351575:p.Gln1101Glu		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.Q1101E	ENST00000358731.4	37	c.3301	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	C	3.355	-0.131642	0.06753	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.16897	2.31	2.79	-1.84	0.07809	.	3.544780	0.01247	N	0.008778	T	0.11495	0.0280	L	0.42245	1.32	0.09310	N	0.999999	B;B;B	0.31227	0.149;0.314;0.016	B;B;B	0.27500	0.08;0.068;0.011	T	0.16335	-1.0406	10	0.02654	T	1	.	4.2908	0.10878	0.5788:0.2913:0.0:0.13	.	1101;1101;1101	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	E	1101;681	ENSP00000351575:Q1101E	ENSP00000351575:Q1101E	Q	+	1	0	BDP1	70841976	0.000000	0.05858	0.000000	0.03702	0.452000	0.32318	-1.706000	0.01895	-0.447000	0.07138	0.205000	0.17691	CAG	BDP1	-	NULL	ENSG00000145734		0.458	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	43	0.00	0	C	NM_018429		70806220	70806220	+1	no_errors	ENST00000358731	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	0.000	G
BEST2	54831	genome.wustl.edu	37	19	12866252	12866252	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:12866252A>G	ENST00000549706.1	+	6	1020	c.696A>G	c.(694-696)gtA>gtG	p.V232V	BEST2_ENST00000042931.1_Silent_p.V232V|BEST2_ENST00000553030.1_Silent_p.V232V			Q8NFU1	BEST2_HUMAN	bestrophin 2	232					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GGATTAGCGTACCCCTCGTGT	0.502																																						dbGAP											0													151.0	147.0	148.0					19																	12866252		2014	4171	6185	-	-	-	SO:0001819	synonymous_variant	0			AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17107	protein-coding gene	gene with protein product		607335	"""vitelliform macular dystrophy 2-like 1"""	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.696A>G	19.37:g.12866252A>G			Q53YQ8|Q9NXP0	Silent	SNP	pfam_Bestrophin/UPF0187	p.V232	ENST00000549706.1	37	c.696	CCDS42506.1	19																																																																																			BEST2	-	pfam_Bestrophin/UPF0187	ENSG00000039987		0.502	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	BEST2	HGNC	protein_coding	OTTHUMT00000403343.1	389	0.26	1	A	NM_017682		12866252	12866252	+1	no_errors	ENST00000042931	ensembl	human	known	69_37n	silent	508	12.67	74	SNP	0.083	G
BET1	10282	genome.wustl.edu	37	7	93633516	93633516	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:93633516C>A	ENST00000222547.3	-	1	171	c.13G>T	c.(13-15)Ggc>Tgc	p.G5C	BET1_ENST00000425626.1_Missense_Mutation_p.G5C|AC006378.2_ENST00000426634.1_RNA|BET1_ENST00000433727.1_Missense_Mutation_p.G5C	NM_005868.4	NP_005859.1	O15155	BET1_HUMAN	Bet1 golgi vesicular membrane trafficking protein	5					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)|vesicle fusion with Golgi apparatus (GO:0048280)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				large_intestine(2)|lung(1)|prostate(1)|skin(1)	5	all_cancers(62;2.22e-10)|all_epithelial(64;1.38e-09)|Lung NSC(181;0.218)	Breast(660;0.000162)|Ovarian(593;0.000626)	STAD - Stomach adenocarcinoma(171;0.000967)			TTACCCAGGCCTGCACGCCTC	0.612																																						dbGAP											0													66.0	70.0	69.0					7																	93633516		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF007551	CCDS5635.1	7q21.1-q22	2013-03-08	2013-03-08		ENSG00000105829	ENSG00000105829			14562	protein-coding gene	gene with protein product	"""Golgi vesicular membrane trafficking protein p18"", ""Bet1p homolog"""	605456	"""Bet1 (S. cerevisiae) homolog"", ""BET1 homolog (S. cerevisiae)"", ""blocked early in transport 1 homolog (S. cerevisiae)"""			9382863, 10449330	Standard	XM_005250109		Approved	hbet1	uc003unf.1	O15155	OTTHUMG00000023487	ENST00000222547.3:c.13G>T	7.37:g.93633516C>A	ENSP00000222547:p.Gly5Cys		Q96EA0	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfscan_T_SNARE_dom	p.G5C	ENST00000222547.3	37	c.13	CCDS5635.1	7	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306702	0.81247	.	.	ENSG00000105829	ENST00000222547;ENST00000433727;ENST00000425626	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	T	0.40347	0.1113	L	0.29908	0.895	0.58432	D	0.99999	P	0.44309	0.832	B	0.38954	0.286	T	0.44019	-0.9355	8	0.62326	D	0.03	.	12.4136	0.55481	0.0:1.0:0.0:0.0	.	5	O15155	BET1_HUMAN	C	5	.	ENSP00000222547:G5C	G	-	1	0	BET1	93471452	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.236000	0.58675	2.627000	0.88993	0.561000	0.74099	GGC	BET1	-	NULL	ENSG00000105829		0.612	BET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BET1	HGNC	protein_coding	OTTHUMT00000255181.2	64	0.00	0	C	NM_005868		93633516	93633516	-1	no_errors	ENST00000357520	ensembl	human	known	69_37n	missense	82	20.95	22	SNP	1.000	A
BMF	90427	genome.wustl.edu	37	15	40398245	40398245	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:40398245A>G	ENST00000354670.4	-	3	277	c.43T>C	c.(43-45)Ttc>Ctc	p.F15L	BMF_ENST00000561282.1_Missense_Mutation_p.F15L|BMF_ENST00000559701.1_Missense_Mutation_p.F15L|BMF_ENST00000397573.1_Missense_Mutation_p.F15L|BMF_ENST00000220446.4_Missense_Mutation_p.F15L|BMF_ENST00000558057.1_5'Flank|BMF_ENST00000561360.1_Missense_Mutation_p.F15L|BMF_ENST00000558774.1_Missense_Mutation_p.F15L|BMF_ENST00000431415.3_Missense_Mutation_p.F15L	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN	Bcl2 modifying factor	15					anoikis (GO:0043276)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		TCTGGTTGGAACACATCATCC	0.622																																						dbGAP											0													77.0	83.0	81.0					15																	40398245		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC060783	CCDS10052.1, CCDS32196.1, CCDS45223.1	15q14	2014-03-07			ENSG00000104081	ENSG00000104081			24132	protein-coding gene	gene with protein product		606266				11546872	Standard	NM_001003943		Approved	FLJ00065	uc001zkw.4	Q96LC9	OTTHUMG00000129875	ENST00000354670.4:c.43T>C	15.37:g.40398245A>G	ENSP00000346697:p.Phe15Leu		Q2M396|Q6NT30|Q6NT56|Q6P9F6|Q7Z7D4|Q7Z7D5|Q9H7K7	Missense_Mutation	SNP	NULL	p.F15L	ENST00000354670.4	37	c.43	CCDS10052.1	15	.	.	.	.	.	.	.	.	.	.	A	27.9	4.870882	0.91587	.	.	ENSG00000104081	ENST00000354670;ENST00000397573;ENST00000431415;ENST00000220446	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.66356	0.2781	L	0.34521	1.04	0.50313	D	0.999867	D;D;D	0.67145	0.974;0.996;0.996	D;D;D	0.73380	0.969;0.98;0.98	T	0.70292	-0.4912	9	0.87932	D	0	-7.503	15.0409	0.71791	1.0:0.0:0.0:0.0	.	15;15;15	Q96LC9;Q96LC9-3;Q96LC9-2	BMF_HUMAN;.;.	L	15	.	ENSP00000220446:F15L	F	-	1	0	BMF	38185537	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.152000	0.71812	2.145000	0.66743	0.533000	0.62120	TTC	BMF	-	NULL	ENSG00000104081		0.622	BMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMF	HGNC	protein_coding	OTTHUMT00000252119.1	142	0.00	0	A	NM_033503		40398245	40398245	-1	no_errors	ENST00000354670	ensembl	human	known	69_37n	missense	193	23.92	61	SNP	1.000	G
BNIP3	664	genome.wustl.edu	37	10	133787312	133787312	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:133787312C>T	ENST00000368636.4	-	2	306	c.182G>A	c.(181-183)aGc>aAc	p.S61N	BNIP3_ENST00000540159.1_Missense_Mutation_p.S61N	NM_004052.2	NP_004043.2	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	61					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|brown fat cell differentiation (GO:0050873)|cell death (GO:0008219)|cellular response to cobalt ion (GO:0071279)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|intrinsic apoptotic signaling pathway in response to hypoxia (GO:1990144)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|negative regulation of membrane potential (GO:0045837)|negative regulation of mitochondrial fusion (GO:0010637)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase binding (GO:0051020)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ACAGTGAGAGCTCTTGGAGCT	0.522																																						dbGAP											0													135.0	106.0	116.0					10																	133787312		2203	4300	6503	-	-	-	SO:0001583	missense	0			U15174	CCDS7663.1	10q26.3	2003-11-05	2002-08-29		ENSG00000176171	ENSG00000176171			1084	protein-coding gene	gene with protein product		603293	"""BCL2/adenovirus E1B 19kD-interacting protein 3"""			7954800	Standard	NM_004052		Approved	Nip3	uc001lkv.1	Q12983	OTTHUMG00000019278	ENST00000368636.4:c.182G>A	10.37:g.133787312C>T	ENSP00000357625:p.Ser61Asn		O14620|Q96GP0	Missense_Mutation	SNP	pfam_BNIP3	p.S61N	ENST00000368636.4	37	c.182	CCDS7663.1	10	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865577	0.71949	.	.	ENSG00000176171	ENST00000368636;ENST00000540159	.	.	.	3.89	3.89	0.44902	.	0.081366	0.85682	D	0.000000	T	0.79730	0.4496	M	0.87180	2.865	0.50813	D	0.999899	D	0.76494	0.999	D	0.83275	0.996	T	0.79196	-0.1903	9	0.19147	T	0.46	-2.7562	15.7722	0.78180	0.0:1.0:0.0:0.0	.	61	Q12983	BNIP3_HUMAN	N	61	.	ENSP00000357625:S61N	S	-	2	0	BNIP3	133637302	1.000000	0.71417	0.986000	0.45419	0.976000	0.68499	6.615000	0.74201	2.115000	0.64714	0.655000	0.94253	AGC	BNIP3	-	pfam_BNIP3	ENSG00000176171		0.522	BNIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNIP3	HGNC	protein_coding	OTTHUMT00000051039.1	145	0.00	0	C			133787312	133787312	-1	no_errors	ENST00000368636	ensembl	human	known	69_37n	missense	181	17.35	38	SNP	1.000	T
BPIFB3	359710	genome.wustl.edu	37	20	31647249	31647249	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:31647249A>G	ENST00000375494.3	+	3	347	c.347A>G	c.(346-348)cAg>cGg	p.Q116R	AL121756.1_ENST00000579962.1_RNA	NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	116	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TTTGGGGTGCAGCTGAGCCTG	0.587																																						dbGAP											0													69.0	60.0	63.0					20																	31647249		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.347A>G	20.37:g.31647249A>G	ENSP00000364643:p.Gln116Arg		Q5TDX7	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.Q116R	ENST00000375494.3	37	c.347	CCDS13212.1	20	.	.	.	.	.	.	.	.	.	.	A	12.08	1.829500	0.32329	.	.	ENSG00000186190	ENST00000375494	T	0.05786	3.39	4.34	3.2	0.36748	.	0.000000	0.50627	D	0.000115	T	0.14442	0.0349	L	0.54323	1.7	0.24806	N	0.992675	D	0.59357	0.985	D	0.74023	0.982	T	0.06110	-1.0845	10	0.25106	T	0.35	-16.9178	6.6802	0.23115	0.8884:0.0:0.1116:0.0	.	116	P59826	BPIB3_HUMAN	R	116	ENSP00000364643:Q116R	ENSP00000364643:Q116R	Q	+	2	0	BPIFB3	31110910	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	2.941000	0.49011	1.828000	0.53243	0.459000	0.35465	CAG	BPIFB3	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N	ENSG00000186190		0.587	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB3	HGNC	protein_coding	OTTHUMT00000078654.2	145	0.00	0	A	NM_182658		31647249	31647249	+1	no_errors	ENST00000375494	ensembl	human	known	69_37n	missense	124	15.07	22	SNP	0.997	G
BPTF	2186	genome.wustl.edu	37	17	65908824	65908824	+	Silent	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:65908824C>A	ENST00000321892.4	+	13	5263	c.5202C>A	c.(5200-5202)ggC>ggA	p.G1734G	BPTF_ENST00000424123.3_Silent_p.G1595G|BPTF_ENST00000335221.5_Silent_p.G1734G|BPTF_ENST00000306378.6_Silent_p.G1608G			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1734	Thr-rich.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.G1608G(1)|p.G1734G(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TAGAAAAAGGCGATAAGCAAA	0.448																																						dbGAP											2	Substitution - coding silent(2)	large_intestine(2)											82.0	79.0	80.0					17																	65908824		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5202C>A	17.37:g.65908824C>A			Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.G1734	ENST00000321892.4	37	c.5202		17																																																																																			BPTF	-	NULL	ENSG00000171634		0.448	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		68	0.00	0	C	NM_182641, NM_004459		65908824	65908824	+1	no_errors	ENST00000321892	ensembl	human	known	69_37n	silent	21	16.00	4	SNP	0.000	A
BRD1	23774	genome.wustl.edu	37	22	50197950	50197950	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr22:50197950C>T	ENST00000216267.8	-	2	1912	c.1426G>A	c.(1426-1428)Gcc>Acc	p.A476T	BRD1_ENST00000342989.5_Missense_Mutation_p.A71T|BRD1_ENST00000404034.1_Missense_Mutation_p.A476T|BRD1_ENST00000457780.2_Missense_Mutation_p.A476T|BRD1_ENST00000404760.1_Missense_Mutation_p.A476T|BRD1_ENST00000542442.1_Missense_Mutation_p.A169T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	476					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TAGCTGTGGGCTCGCTCCACA	0.552																																						dbGAP											0													70.0	73.0	72.0					22																	50197950		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1426G>A	22.37:g.50197950C>T	ENSP00000216267:p.Ala476Thr		A6ZJA4	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain	p.A476T	ENST00000216267.8	37	c.1426	CCDS14080.1	22	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996993	0.93167	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989	T;T;T;T;T;T	0.34667	2.55;2.55;2.55;2.37;1.35;1.35	5.05	5.05	0.67936	.	0.059360	0.64402	D	0.000002	T	0.30166	0.0756	L	0.28556	0.865	0.41032	D	0.985166	P;B;P;P	0.40834	0.611;0.349;0.469;0.73	B;B;B;B	0.36845	0.118;0.114;0.075;0.234	T	0.18808	-1.0325	10	0.59425	D	0.04	.	18.3901	0.90479	0.0:1.0:0.0:0.0	.	476;71;476;476	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	T	476;476;476;476;169;71	ENSP00000216267:A476T;ENSP00000384076:A476T;ENSP00000385858:A476T;ENSP00000410042:A476T;ENSP00000437514:A169T;ENSP00000345886:A71T	ENSP00000216267:A476T	A	-	1	0	BRD1	48583954	0.980000	0.34600	1.000000	0.80357	0.977000	0.68977	2.353000	0.44089	2.366000	0.80165	0.655000	0.94253	GCC	BRD1	-	NULL	ENSG00000100425		0.552	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BRD1	HGNC	protein_coding	OTTHUMT00000317402.1	102	0.00	0	C	NM_014577		50197950	50197950	-1	no_errors	ENST00000216267	ensembl	human	known	69_37n	missense	114	17.39	24	SNP	1.000	T
BUB3	9184	genome.wustl.edu	37	10	124920053	124920053	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:124920053G>A	ENST00000368865.4	+	5	757	c.548G>A	c.(547-549)cGc>cAc	p.R183H	BUB3_ENST00000368858.5_Missense_Mutation_p.R183H|BUB3_ENST00000538238.1_Missense_Mutation_p.R103H|BUB3_ENST00000368859.2_Intron	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	183					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|regulation of chromosome segregation (GO:0051983)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly checkpoint (GO:0071173)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				TACCAGACTCGCTGCATACGA	0.458																																					GBM(161;1111 1985 17553 20049 26037)	dbGAP											0													151.0	142.0	145.0					10																	124920053		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF053304	CCDS7635.1, CCDS31306.1	10q24	2013-01-17	2013-01-17		ENSG00000154473	ENSG00000154473		"""WD repeat domain containing"""	1151	protein-coding gene	gene with protein product		603719	"""BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog"", ""budding uninhibited by benzimidazoles 3 homolog (yeast)"""			9660858	Standard	NM_004725		Approved	BUB3L	uc001lhe.2	O43684	OTTHUMG00000019197	ENST00000368865.4:c.548G>A	10.37:g.124920053G>A	ENSP00000357858:p.Arg183His		A6NJ42|B2R6E7|D3DRE9|O43685	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R183H	ENST00000368865.4	37	c.548	CCDS7635.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.451576	0.96205	.	.	ENSG00000154473	ENST00000368865;ENST00000538238;ENST00000368858;ENST00000407911	T;T;T;T	0.71222	-0.55;1.54;-0.55;-0.55	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.052205	0.85682	D	0.000000	D	0.89371	0.6696	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	0.982;1.0	P;D	0.91635	0.503;0.999	D	0.92116	0.5700	10	0.66056	D	0.02	-6.2369	19.1619	0.93537	0.0:0.0:1.0:0.0	.	183;183	O43684;O43684-2	BUB3_HUMAN;.	H	183;103;183;183	ENSP00000357858:R183H;ENSP00000444354:R103H;ENSP00000357851:R183H;ENSP00000383941:R183H	ENSP00000357851:R183H	R	+	2	0	BUB3	124910043	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.835000	0.99442	2.579000	0.87056	0.655000	0.94253	CGC	BUB3	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000154473		0.458	BUB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BUB3	HGNC	protein_coding	OTTHUMT00000050835.1	211	0.00	0	G			124920053	124920053	+1	no_errors	ENST00000368865	ensembl	human	known	69_37n	missense	116	11.36	15	SNP	1.000	A
BZRAP1	9256	genome.wustl.edu	37	17	56400673	56400673	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:56400673G>A	ENST00000343736.4	-	7	1253	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	BZRAP1_ENST00000355701.3_Nonsense_Mutation_p.R364*|BZRAP1_ENST00000268893.6_Nonsense_Mutation_p.R304*|BZRAP1-AS1_ENST00000579527.1_RNA			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	364						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCTCACATCGCCTCTGCTTT	0.612																																						dbGAP											0													161.0	171.0	168.0					17																	56400673		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.1090C>T	17.37:g.56400673G>A	ENSP00000345824:p.Arg364*		O75111|Q8N5W3	Nonsense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.R364*	ENST00000343736.4	37	c.1090	CCDS11605.1	17	.	.	.	.	.	.	.	.	.	.	G	46	12.151056	0.99640	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	.	.	.	4.05	4.05	0.47172	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9667	0.41730	0.0:0.0:0.6691:0.3309	.	.	.	.	X	364;364;304	.	ENSP00000268893:R304X	R	-	1	2	BZRAP1	53755672	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.627000	0.24506	1.978000	0.57642	0.561000	0.74099	CGA	BZRAP1	-	NULL	ENSG00000005379		0.612	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1	172	0.00	0	G	NM_004758		56400673	56400673	-1	no_errors	ENST00000355701	ensembl	human	known	69_37n	nonsense	219	26.01	77	SNP	1.000	A
C12orf56	115749	genome.wustl.edu	37	12	64712708	64712708	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:64712708G>T	ENST00000543942.2	-	4	1167	c.541C>A	c.(541-543)Cca>Aca	p.P181T	C12orf56_ENST00000333722.5_Intron|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	181										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TTGAGGCCTGGACGAGGACAG	0.517																																						dbGAP											0													201.0	170.0	180.0					12																	64712708		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.541C>A	12.37:g.64712708G>T	ENSP00000446101:p.Pro181Thr			Missense_Mutation	SNP	NULL	p.P181T	ENST00000543942.2	37	c.541		12	.	.	.	.	.	.	.	.	.	.	G	2.438	-0.329189	0.05314	.	.	ENSG00000185306	ENST00000543942;ENST00000433716	.	.	.	4.45	-1.39	0.08997	.	.	.	.	.	T	0.19565	0.0470	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.28170	-1.0052	5	.	.	.	.	4.2822	0.10838	0.4716:0.337:0.1914:0.0	.	.	.	.	T	181;183	.	.	P	-	1	0	C12orf56	62998975	0.025000	0.19082	0.007000	0.13788	0.000000	0.00434	0.495000	0.22483	-0.150000	0.11195	-1.559000	0.00887	CCA	C12orf56	-	NULL	ENSG00000185306		0.517	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf56	HGNC	protein_coding	OTTHUMT00000401058.2	346	0.00	0	G	NM_001099676		64712708	64712708	-1	no_errors	ENST00000543942	ensembl	human	putative	69_37n	missense	128	26.44	46	SNP	0.011	T
C15orf39	56905	genome.wustl.edu	37	15	75498614	75498614	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:75498614C>T	ENST00000360639.2	+	2	545	c.225C>T	c.(223-225)acC>acT	p.T75T	C15orf39_ENST00000567617.1_Silent_p.T75T|C15orf39_ENST00000394987.4_Silent_p.T75T			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	75						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						TGTACTCTACCGGTATGGCAG	0.602																																						dbGAP											0													91.0	59.0	70.0					15																	75498614		2197	4295	6492	-	-	-	SO:0001819	synonymous_variant	0			AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.225C>T	15.37:g.75498614C>T			B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Silent	SNP	NULL	p.T75	ENST00000360639.2	37	c.225	CCDS10276.1	15																																																																																			C15orf39	-	NULL	ENSG00000167173		0.602	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf39	HGNC	protein_coding	OTTHUMT00000286410.1	112	0.00	0	C	NM_015492		75498614	75498614	+1	no_errors	ENST00000360639	ensembl	human	known	69_37n	silent	130	22.62	38	SNP	0.008	T
VPS9D1	9605	genome.wustl.edu	37	16	89785449	89785449	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:89785449A>G	ENST00000389386.3	-	2	285	c.161T>C	c.(160-162)gTg>gCg	p.V54A	VPS9D1-AS1_ENST00000562866.1_RNA|ZNF276_ENST00000289816.5_5'Flank|ZNF276_ENST00000568064.1_5'Flank|ZNF276_ENST00000443381.2_5'Flank|ZNF276_ENST00000446326.2_5'Flank|VPS9D1-AS1_ENST00000562298.1_RNA|VPS9D1_ENST00000561976.1_5'UTR	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	54					ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										AGTGGTTTCCACTTCTTCTAG	0.572																																						dbGAP											0													122.0	126.0	125.0					16																	89785449		1903	4113	6016	-	-	-	SO:0001583	missense	0			AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 7"""	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.161T>C	16.37:g.89785449A>G	ENSP00000374037:p.Val54Ala			Missense_Mutation	SNP	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9	p.V54A	ENST00000389386.3	37	c.161	CCDS42220.1	16	.	.	.	.	.	.	.	.	.	.	A	0.092	-1.165604	0.01673	.	.	ENSG00000075399	ENST00000389386;ENST00000261625	T	0.27890	1.64	4.79	0.61	0.17580	.	0.236661	0.41294	N	0.000910	T	0.12220	0.0297	N	0.11560	0.145	0.22933	N	0.998549	B	0.06786	0.001	B	0.04013	0.001	T	0.29610	-1.0006	10	0.13853	T	0.58	-3.413	6.589	0.22636	0.4606:0.0:0.5394:0.0	.	54	Q9Y2B5	CP007_HUMAN	A	54;85	ENSP00000374037:V54A	ENSP00000261625:V85A	V	-	2	0	C16orf7	88312950	.	.	0.618000	0.29105	0.204000	0.24138	.	.	0.127000	0.18452	0.459000	0.35465	GTG	C16orf7	-	NULL	ENSG00000075399		0.572	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	C16orf7	HGNC	protein_coding	OTTHUMT00000422508.1	173	0.00	0	A	NM_004913		89785449	89785449	-1	no_errors	ENST00000389386	ensembl	human	known	69_37n	missense	204	14.23	34	SNP	0.645	G
PRR29	92340	genome.wustl.edu	37	17	62079133	62079133	+	3'UTR	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:62079133G>A	ENST00000412177.1	+	0	596				C17orf72_ENST00000539996.1_3'UTR|C17orf72_ENST00000579184.1_3'UTR|C17orf72_ENST00000577953.1_3'UTR|C17orf72_ENST00000580752.1_3'UTR|RP11-214C8.2_ENST00000580942.1_lincRNA|ICAM2_ENST00000581417.1_5'Flank|C17orf72_ENST00000425164.3_Missense_Mutation_p.R170Q|C17orf72_ENST00000582540.1_3'UTR	NM_001164257.1|NM_001191030.1	NP_001157729.1|NP_001177959.1	P0C7W0	PRR29_HUMAN																			GACAGACCCCGGCCCTGGGAA	0.597																																						dbGAP											0													87.0	84.0	85.0					17																	62079133		692	1591	2283	-	-	-	SO:0001624	3_prime_UTR_variant	0																														ENST00000412177.1:c.*12G>A	17.37:g.62079133G>A			B3KMP0|B4DZJ9|B4E2F8|E9PGL5|J3QKX4	Missense_Mutation	SNP	NULL	p.R170Q	ENST00000412177.1	37	c.509	CCDS54158.1	17	.	.	.	.	.	.	.	.	.	.	G	8.560	0.877493	0.17395	.	.	ENSG00000224383	ENST00000425164	T	0.54279	0.58	2.13	-3.79	0.04320	.	.	.	.	.	T	0.27866	0.0686	N	0.08118	0	0.09310	N	0.999991	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.87932	D	0	.	7.2934	0.26378	0.6924:0.0:0.3076:0.0	.	170	E9PGL5	.	Q	170	ENSP00000396936:R170Q	ENSP00000396936:R170Q	R	+	2	0	C17orf72	59432865	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.328000	0.19681	-0.920000	0.03799	-0.291000	0.09656	CGG	C17orf72	-	NULL	ENSG00000224383		0.597	C17orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf72	HGNC	protein_coding	OTTHUMT00000442613.1	70	0.00	0	G			62079133	62079133	+1	no_errors	ENST00000425164	ensembl	human	known	69_37n	missense	105	12.50	15	SNP	0.001	A
C19orf44	84167	genome.wustl.edu	37	19	16617587	16617587	+	Splice_Site	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:16617587T>C	ENST00000221671.3	+	4	1305		c.e4+2		CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Splice_Site	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44											endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GAACAGGAAGTAAGTACAACA	0.318																																						dbGAP											0													52.0	56.0	55.0					19																	16617587		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.1149+2T>C	19.37:g.16617587T>C			Q8N6Y7	Splice_Site	SNP	-	e3+2	ENST00000221671.3	37	c.1149+2	CCDS12345.1	19	.	.	.	.	.	.	.	.	.	.	T	12.44	1.939626	0.34189	.	.	ENSG00000105072	ENST00000221671	.	.	.	4.18	4.18	0.49190	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9148	0.47129	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	C19orf44	16478587	1.000000	0.71417	0.153000	0.22517	0.045000	0.14185	3.554000	0.53720	1.666000	0.50821	0.459000	0.35465	.	C19orf44	-	-	ENSG00000105072		0.318	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C19orf44	HGNC	protein_coding	OTTHUMT00000461218.1	72	0.00	0	T	NM_032207	Intron	16617587	16617587	+1	no_errors	ENST00000221671	ensembl	human	known	69_37n	splice_site	61	16.44	12	SNP	0.981	C
C19orf18	147685	genome.wustl.edu	37	19	58485513	58485513	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:58485513A>G	ENST00000314391.3	-	2	281	c.180T>C	c.(178-180)caT>caC	p.H60H		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	60						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		ACTGGGTTTTATGAAAGAACA	0.463																																						dbGAP											0													158.0	148.0	152.0					19																	58485513		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.180T>C	19.37:g.58485513A>G				Silent	SNP	NULL	p.H60	ENST00000314391.3	37	c.180	CCDS12967.1	19																																																																																			C19orf18	-	NULL	ENSG00000177025		0.463	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf18	HGNC	protein_coding	OTTHUMT00000466704.1	304	0.00	0	A	NM_152474		58485513	58485513	-1	no_errors	ENST00000314391	ensembl	human	known	69_37n	silent	161	12.43	23	SNP	0.000	G
C1QTNF4	114900	genome.wustl.edu	37	11	47611499	47611499	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:47611499G>A	ENST00000302514.3	-	2	1380	c.864C>T	c.(862-864)agC>agT	p.S288S		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	288	C1q 2. {ECO:0000255|PROSITE- ProRule:PRU00368}.					extracellular space (GO:0005615)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						CGTGGTCGTGGCTGAGCAGCC	0.706																																						dbGAP											0													42.0	60.0	54.0					11																	47611499		2150	4158	6308	-	-	-	SO:0001819	synonymous_variant	0			AF329838	CCDS7942.1	11q11	2008-07-18				ENSG00000172247			14346	protein-coding gene	gene with protein product	"""complement-c1q tumor necrosis factor-related protein 4"""	614911				16094384	Standard	NM_031909		Approved	CTRP4, ZACRP4	uc001ngc.2	Q9BXJ3		ENST00000302514.3:c.864C>T	11.37:g.47611499G>A			Q8IV25	Silent	SNP	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.S288	ENST00000302514.3	37	c.864	CCDS7942.1	11																																																																																			C1QTNF4	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q	ENSG00000172247		0.706	C1QTNF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF4	HGNC	protein_coding	OTTHUMT00000391772.1	163	0.00	0	G	NM_031909		47611499	47611499	-1	no_errors	ENST00000302514	ensembl	human	known	69_37n	silent	248	10.79	30	SNP	1.000	A
C1orf127	148345	genome.wustl.edu	37	1	11007947	11007947	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:11007947delC	ENST00000377008.4	-	11	2190	c.1744delG	c.(1744-1746)gttfs	p.V582fs	C1orf127_ENST00000377004.4_Frame_Shift_Del_p.V749fs			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	582										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GTGTGTGCAACCCCCCACTCC	0.637																																						dbGAP											0													41.0	38.0	39.0					1																	11007947		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.1744delG	1.37:g.11007947delC	ENSP00000366207:p.Val582fs		A0AVG8|A6NKM7|Q5VXJ2	Frame_Shift_Del	DEL	superfamily_DNA-bd_dom_put	p.V749fs	ENST00000377008.4	37	c.2245		1																																																																																			C1orf127	-	superfamily_DNA-bd_dom_put	ENSG00000175262		0.637	C1orf127-202	KNOWN	basic	protein_coding	C1orf127	HGNC	protein_coding		46	0.00	0	C	NM_173507		11007947	11007947	-1	no_errors	ENST00000377004	ensembl	human	known	69_37n	frame_shift_del	86	15.38	16	DEL	0.003	-
CFAP74	85452	genome.wustl.edu	37	1	1922390	1922390	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:1922390C>A	ENST00000434971.2	-	2	38	c.6G>T	c.(4-6)gaG>gaT	p.E2D				Q69YW0	CA222_HUMAN		0										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGCCGTCATCCTCCATGCTGG	0.403																																						dbGAP											0													51.0	52.0	52.0					1																	1922390		1899	4121	6020	-	-	-	SO:0001583	missense	0																														ENST00000434971.2:c.6G>T	1.37:g.1922390C>A	ENSP00000408078:p.Glu2Asp			Missense_Mutation	SNP	NULL	p.E2D	ENST00000434971.2	37	c.6		1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.645430	0.29246	.	.	ENSG00000142609	ENST00000270720;ENST00000434971	T	0.55234	0.53	2.88	0.107	0.14544	.	.	.	.	.	T	0.46698	0.1406	L	0.29908	0.895	0.09310	N	0.999997	P;P	0.41393	0.748;0.748	P;P	0.51833	0.681;0.517	T	0.38693	-0.9649	9	0.59425	D	0.04	-7.01	3.1546	0.06500	0.0:0.1431:0.2468:0.6101	.	2;2	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	D	2	ENSP00000408078:E2D	ENSP00000270720:E2D	E	-	3	2	C1orf222	1912250	0.145000	0.22656	0.545000	0.28153	0.001000	0.01503	-0.319000	0.08039	0.062000	0.16340	-1.576000	0.00868	GAG	C1orf222	-	NULL	ENSG00000142609		0.403	C1orf222-201	KNOWN	basic	protein_coding	C1orf222	HGNC	protein_coding		84	0.00	0	C			1922390	1922390	-1	no_errors	ENST00000270720	ensembl	human	known	69_37n	missense	111	15.79	21	SNP	0.609	A
CNBD2	140894	genome.wustl.edu	37	20	34563924	34563924	+	Splice_Site	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:34563924G>T	ENST00000373973.3	+	3	416	c.243G>T	c.(241-243)gaG>gaT	p.E81D	CNBD2_ENST00000538900.1_Splice_Site_p.E81D|CNBD2_ENST00000349339.1_Splice_Site_p.E81D			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	81																	TTGCAGAGGAGGTATGCATAG	0.493																																						dbGAP											0													142.0	130.0	134.0					20																	34563924		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.243+1G>T	20.37:g.34563924G>T			Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E81D	ENST00000373973.3	37	c.243		20	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995420	0.74703	.	.	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	T;T;T	0.12672	2.66;2.66;2.66	4.9	4.9	0.64082	.	0.850868	0.10198	N	0.703701	T	0.13072	0.0317	L	0.38175	1.15	0.36955	D	0.893064	B;P	0.35272	0.361;0.493	B;B	0.30495	0.054;0.116	T	0.16689	-1.0394	10	0.42905	T	0.14	-9.2202	13.947	0.64091	0.0:0.0:1.0:0.0	.	81;81	Q96M20;Q96M20-2	CT152_HUMAN;.	D	81	ENSP00000363084:E81D;ENSP00000340954:E81D;ENSP00000442729:E81D	ENSP00000340954:E81D	E	+	3	2	C20orf152	34027338	1.000000	0.71417	0.912000	0.35992	0.696000	0.40369	4.092000	0.57707	2.426000	0.82243	0.655000	0.94253	GAG	C20orf152	-	NULL	ENSG00000149646		0.493	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	C20orf152	HGNC	protein_coding	OTTHUMT00000078960.2	186	0.00	0	G	NM_080834	Missense_Mutation	34563924	34563924	+1	no_errors	ENST00000373973	ensembl	human	known	69_37n	missense	184	16.67	37	SNP	0.978	T
C20orf197	284756	genome.wustl.edu	37	20	58645900	58645900	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:58645900A>C	ENST00000313426.1	+	4	624	c.318A>C	c.(316-318)aaA>aaC	p.K106N		NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	chromosome 20 open reading frame 197	106										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			caccaaataaacccttggatt	0.458																																						dbGAP											0													58.0	57.0	58.0					20																	58645900		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK091179	CCDS13487.1	20q13.33	2006-07-07			ENSG00000176659	ENSG00000176659			26601	protein-coding gene	gene with protein product						12975309	Standard	NM_173644		Approved	FLJ33860	uc002ybj.1	Q8N268	OTTHUMG00000032880	ENST00000313426.1:c.318A>C	20.37:g.58645900A>C	ENSP00000316457:p.Lys106Asn		Q08EQ0	Missense_Mutation	SNP	NULL	p.K106N	ENST00000313426.1	37	c.318	CCDS13487.1	20	.	.	.	.	.	.	.	.	.	.	A	8.918	0.960390	0.18507	.	.	ENSG00000176659	ENST00000313426	.	.	.	2.12	-0.362	0.12560	.	.	.	.	.	T	0.15305	0.0369	N	0.08118	0	0.09310	N	1	P	0.44344	0.833	P	0.44477	0.451	T	0.11227	-1.0596	8	0.87932	D	0	.	1.7855	0.03040	0.5451:0.0:0.1756:0.2794	.	106	Q8N268	CT197_HUMAN	N	106	.	ENSP00000316457:K106N	K	+	3	2	C20orf197	58079295	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	0.392000	0.20801	-0.104000	0.12154	0.402000	0.26972	AAA	C20orf197	-	NULL	ENSG00000176659		0.458	C20orf197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf197	HGNC	protein_coding	OTTHUMT00000079944.1	87	0.00	0	A	NM_173644		58645900	58645900	+1	no_errors	ENST00000313426	ensembl	human	known	69_37n	missense	49	16.95	10	SNP	0.000	C
C2CD2L	9854	genome.wustl.edu	37	11	118986850	118986850	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:118986850G>A	ENST00000336702.3	+	14	2367	c.2008G>A	c.(2008-2010)Gca>Aca	p.A670T	C2CD2L_ENST00000528586.1_3'UTR	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	669						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCTCTCCAACGCAACGGCCAC	0.577																																						dbGAP											0													83.0	77.0	79.0					11																	118986850		2200	4295	6495	-	-	-	SO:0001583	missense	0			AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"""transmembrane protein 24"""	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000336702.3:c.2008G>A	11.37:g.118986850G>A	ENSP00000338885:p.Ala670Thr		Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.A670T	ENST00000336702.3	37	c.2008	CCDS8413.1	11	.	.	.	.	.	.	.	.	.	.	G	4.331	0.060802	0.08339	.	.	ENSG00000172375	ENST00000336702	T	0.46451	0.87	5.21	0.29	0.15728	.	0.482314	0.23209	N	0.050689	T	0.16769	0.0403	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.06320	-1.0833	10	0.19147	T	0.46	-16.6255	4.6045	0.12371	0.3633:0.0:0.4603:0.1764	.	669;670	O14523;O14523-2	C2C2L_HUMAN;.	T	670	ENSP00000338885:A670T	ENSP00000338885:A670T	A	+	1	0	C2CD2L	118492060	0.799000	0.28903	0.896000	0.35187	0.832000	0.47134	0.273000	0.18662	0.115000	0.18071	-0.302000	0.09304	GCA	C2CD2L	-	NULL	ENSG00000172375		0.577	C2CD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD2L	HGNC	protein_coding	OTTHUMT00000388197.2	130	0.00	0	G	NM_014807		118986850	118986850	+1	no_errors	ENST00000336702	ensembl	human	known	69_37n	missense	115	13.53	18	SNP	0.927	A
C2orf16	84226	genome.wustl.edu	37	2	27801825	27801825	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:27801825C>A	ENST00000408964.2	+	1	2437	c.2386C>A	c.(2386-2388)Ctt>Att	p.L796I	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	796						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCCTTTGGCCCTTCATAATCA	0.388																																						dbGAP											0													214.0	210.0	211.0					2																	27801825		1839	4091	5930	-	-	-	SO:0001583	missense	0			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2386C>A	2.37:g.27801825C>A	ENSP00000386190:p.Leu796Ile		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	NULL	p.L796I	ENST00000408964.2	37	c.2386	CCDS42666.1	2	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860363	0.32884	.	.	ENSG00000221843	ENST00000408964	T	0.08458	3.09	5.04	1.18	0.20946	.	.	.	.	.	T	0.04952	0.0133	L	0.27053	0.805	0.09310	N	1	P	0.46912	0.886	B	0.37888	0.26	T	0.35525	-0.9785	9	0.54805	T	0.06	.	3.5712	0.07918	0.1738:0.55:0.0:0.2761	.	796	Q68DN1	CB016_HUMAN	I	796	ENSP00000386190:L796I	ENSP00000386190:L796I	L	+	1	0	C2orf16	27655329	0.000000	0.05858	0.002000	0.10522	0.216000	0.24613	-1.091000	0.03369	0.031000	0.15407	0.491000	0.48974	CTT	C2orf16	-	NULL	ENSG00000221843		0.388	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	98	0.00	0	C	NM_032266		27801825	27801825	+1	no_errors	ENST00000408964	ensembl	human	known	69_37n	missense	51	12.07	7	SNP	0.001	A
C5orf42	65250	genome.wustl.edu	37	5	37176052	37176052	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:37176052A>G	ENST00000508244.1	-	30	6030	c.5937T>C	c.(5935-5937)acT>acC	p.T1979T	C5orf42_ENST00000425232.2_Silent_p.T1979T|C5orf42_ENST00000274258.7_Silent_p.T859T			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1979						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTGATTGAGGAGTGGTATGCC	0.333																																						dbGAP											0													206.0	219.0	215.0					5																	37176052		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5937T>C	5.37:g.37176052A>G			A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	superfamily_Quino_amine_DH_bsu	p.T1979	ENST00000508244.1	37	c.5937	CCDS34146.2	5																																																																																			C5orf42	-	NULL	ENSG00000197603		0.333	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	227	0.00	0	A	NM_023073		37176052	37176052	-1	no_errors	ENST00000425232	ensembl	human	known	69_37n	silent	63	13.70	10	SNP	0.153	G
C5orf42	65250	genome.wustl.edu	37	5	37181009	37181009	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:37181009A>G	ENST00000508244.1	-	26	5613	c.5520T>C	c.(5518-5520)ggT>ggC	p.G1840G	C5orf42_ENST00000425232.2_Silent_p.G1840G|C5orf42_ENST00000274258.7_Silent_p.G721G			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1840						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCTCAGTTCCACCTGGAGTTG	0.403																																						dbGAP											0													76.0	70.0	72.0					5																	37181009		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5520T>C	5.37:g.37181009A>G			A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	superfamily_Quino_amine_DH_bsu	p.G1840	ENST00000508244.1	37	c.5520	CCDS34146.2	5																																																																																			C5orf42	-	NULL	ENSG00000197603		0.403	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	111	0.00	0	A	NM_023073		37181009	37181009	-1	no_errors	ENST00000425232	ensembl	human	known	69_37n	silent	32	22.73	10	SNP	0.001	G
C8orf74	203076	genome.wustl.edu	37	8	10557966	10557966	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:10557966G>A	ENST00000304519.5	+	4	899	c.870G>A	c.(868-870)gcG>gcA	p.A290A	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	290										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		GAAAGAAAGCGAAGGCAAGGA	0.617																																						dbGAP											0													36.0	45.0	42.0					8																	10557966		2044	4191	6235	-	-	-	SO:0001819	synonymous_variant	0			BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060			32296	protein-coding gene	gene with protein product							Standard	NM_001040032		Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.870G>A	8.37:g.10557966G>A			A2RUD6	Silent	SNP	NULL	p.A290	ENST00000304519.5	37	c.870	CCDS47800.1	8																																																																																			C8orf74	-	NULL	ENSG00000171060		0.617	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf74	HGNC	protein_coding	OTTHUMT00000375675.1	98	0.00	0	G	NM_001040032		10557966	10557966	+1	no_errors	ENST00000304519	ensembl	human	known	69_37n	silent	109	25.34	37	SNP	0.002	A
C9orf3	84909	genome.wustl.edu	37	9	97535372	97535372	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:97535372G>A	ENST00000375315.2	+	2	886	c.886G>A	c.(886-888)Gct>Act	p.A296T	C9orf3_ENST00000297979.5_Missense_Mutation_p.A296T|C9orf3_ENST00000277198.2_Missense_Mutation_p.A296T	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	296					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AACATGGCAGGCTACAGTTCG	0.483																																						dbGAP											0													157.0	144.0	148.0					9																	97535372		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.886G>A	9.37:g.97535372G>A	ENSP00000364464:p.Ala296Thr		Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold	p.A296T	ENST00000375315.2	37	c.886	CCDS55328.1	9	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708328	0.89018	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313	T;T;T;T;T	0.04234	3.67;3.67;3.67;3.67;3.67	5.09	4.19	0.49359	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.22126	0.0533	M	0.79693	2.465	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.923;1.0	D;D;B;D	0.87578	0.998;0.988;0.397;0.988	T	0.01397	-1.1365	10	0.72032	D	0.01	-8.1939	13.8561	0.63527	0.0738:0.0:0.9262:0.0	.	296;296;296;296	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	T	296;296;296;119;78	ENSP00000277198:A296T;ENSP00000297979:A296T;ENSP00000364464:A296T;ENSP00000402171:A119T;ENSP00000401854:A78T	ENSP00000277198:A296T	A	+	1	0	C9orf3	96575193	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.264000	0.78432	1.372000	0.46190	0.585000	0.79938	GCT	C9orf3	-	pfam_Peptidase_M1_N	ENSG00000148120		0.483	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf3	HGNC	protein_coding		231	0.00	0	G	NM_032823		97535372	97535372	+1	no_errors	ENST00000375315	ensembl	human	known	69_37n	missense	117	16.43	23	SNP	1.000	A
CCDC180	100499483	genome.wustl.edu	37	9	100136930	100136930	+	Splice_Site	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:100136930G>T	ENST00000357054.1	+	47	5608	c.4673G>T	c.(4672-4674)aGg>aTg	p.R1558M	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Splice_Site_p.R1613M|CCDC180_ENST00000529487.1_Splice_Site_p.R1613M|CCDC180_ENST00000395220.1_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1558						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CGTGGAAGCAGGTGAGAACCA	0.512																																						dbGAP											0													63.0	55.0	58.0					9																	100136930		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4673+1G>T	9.37:g.100136930G>T			Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.R1613M	ENST00000357054.1	37	c.4838		9	.	.	.	.	.	.	.	.	.	.	G	19.22	3.784980	0.70222	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.12039	2.72;2.72;2.72	3.99	3.99	0.46301	.	0.075263	0.56097	D	0.000028	T	0.33702	0.0872	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.989;0.994	T	0.03060	-1.1077	10	0.59425	D	0.04	-23.0034	11.9238	0.52808	0.0:0.0:1.0:0.0	.	1752;1558	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	M	1558;1613;1613	ENSP00000349562:R1558M;ENSP00000364348:R1613M;ENSP00000434727:R1613M	ENSP00000349562:R1558M	R	+	2	0	C9orf174	99176751	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.131000	0.50515	2.529000	0.85273	0.655000	0.94253	AGG	C9orf174	-	NULL	ENSG00000197816		0.512	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		103	0.00	0	G	NM_020893	Missense_Mutation	100136930	100136930	+1	no_errors	ENST00000375202	ensembl	human	known	69_37n	missense	85	15.00	15	SNP	1.000	T
C9orf50	375759	genome.wustl.edu	37	9	132377802	132377802	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:132377802G>A	ENST00000372478.4	-	4	1042	c.841C>T	c.(841-843)Cag>Tag	p.Q281*	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	281										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				GTTGTGTCCTGCAGGGTCTCG	0.642																																						dbGAP											0													68.0	59.0	62.0					9																	132377802		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.841C>T	9.37:g.132377802G>A	ENSP00000361556:p.Gln281*		Q2M1I2|Q8NA65	Nonsense_Mutation	SNP	NULL	p.Q281*	ENST00000372478.4	37	c.841	CCDS35159.1	9	.	.	.	.	.	.	.	.	.	.	g	22.0	4.230533	0.79688	.	.	ENSG00000179058	ENST00000372478	.	.	.	3.17	1.17	0.20885	.	0.481828	0.15435	N	0.262506	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-9.2012	7.75	0.28892	0.0:0.0:0.5463:0.4537	.	.	.	.	X	281	.	ENSP00000361556:Q281X	Q	-	1	0	C9orf50	131417623	0.001000	0.12720	0.007000	0.13788	0.529000	0.34654	0.062000	0.14389	0.316000	0.23135	0.434000	0.28630	CAG	C9orf50	-	NULL	ENSG00000179058		0.642	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf50	HGNC	protein_coding	OTTHUMT00000054593.1	60	0.00	0	G	NM_199350		132377802	132377802	-1	no_errors	ENST00000372478	ensembl	human	known	69_37n	nonsense	86	42.67	64	SNP	0.009	A
CA5B	11238	genome.wustl.edu	37	X	15790679	15790679	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:15790679G>A	ENST00000318636.3	+	4	537	c.401G>A	c.(400-402)gGg>gAg	p.G134E	CA5B_ENST00000454127.2_Missense_Mutation_p.G134E	NM_007220.3	NP_009151.1	Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB, mitochondrial	88						mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					TTTCACTGGGGGGCCATCGAT	0.493																																						dbGAP											0													171.0	153.0	159.0					X																	15790679		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB021660	CCDS14171.1	Xp22.1	2008-08-13			ENSG00000169239	ENSG00000169239		"""Carbonic anhydrases"""	1378	protein-coding gene	gene with protein product		300230				10409679	Standard	XM_005274442		Approved		uc004cxe.3	Q9Y2D0	OTTHUMG00000021183	ENST00000318636.3:c.401G>A	X.37:g.15790679G>A	ENSP00000314099:p.Gly134Glu		A6NEZ4	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.G134E	ENST00000318636.3	37	c.401	CCDS14171.1	X	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027585	0.93518	.	.	ENSG00000169239	ENST00000318636;ENST00000479740;ENST00000454127	D;D;D	0.95885	-2.06;-3.84;-2.06	5.81	5.81	0.92471	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.98520	0.9506	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99698	1.1003	10	0.87932	D	0	-18.7401	16.244	0.82431	0.0:0.0:1.0:0.0	.	134	Q9Y2D0	CAH5B_HUMAN	E	134	ENSP00000314099:G134E;ENSP00000417553:G134E;ENSP00000417021:G134E	ENSP00000314099:G134E	G	+	2	0	CA5B	15700600	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.748000	0.98867	2.440000	0.82611	0.600000	0.82982	GGG	CA5B	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000169239		0.493	CA5B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CA5B	HGNC	protein_coding	OTTHUMT00000354933.1	151	0.00	0	G	NM_007220		15790679	15790679	+1	no_errors	ENST00000318636	ensembl	human	known	69_37n	missense	48	11.11	6	SNP	1.000	A
CA9	768	genome.wustl.edu	37	9	35679330	35679330	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:35679330T>C	ENST00000378357.4	+	7	1160	c.1056T>C	c.(1054-1056)agT>agC	p.S352S	CA9_ENST00000493245.1_3'UTR	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	352	Catalytic.				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	TGATGCTGAGTGCTAAGCAGG	0.532																																						dbGAP											0													173.0	150.0	157.0					9																	35679330		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"""Carbonic anhydrases"""	1383	protein-coding gene	gene with protein product	"""carbonic dehydratase"", ""RCC-associated protein G250"""	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.1056T>C	9.37:g.35679330T>C			Q5T4R1	Silent	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.S352	ENST00000378357.4	37	c.1056	CCDS6585.1	9																																																																																			CA9	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000107159		0.532	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA9	HGNC	protein_coding	OTTHUMT00000055479.1	566	0.00	0	T	NM_001216		35679330	35679330	+1	no_errors	ENST00000378357	ensembl	human	known	69_37n	silent	560	12.58	81	SNP	0.998	C
CACHD1	57685	genome.wustl.edu	37	1	65139111	65139111	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:65139111G>A	ENST00000371073.2	+	19	2691	c.2691G>A	c.(2689-2691)acG>acA	p.T897T	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.T846T			Q5VU97	CAHD1_HUMAN	cache domain containing 1	897					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GTGACAGAACGGTCCAGAGGT	0.428																																						dbGAP											0													132.0	130.0	130.0					1																	65139111		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.2691G>A	1.37:g.65139111G>A			Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Silent	SNP	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.T897	ENST00000371073.2	37	c.2691		1																																																																																			CACHD1	-	NULL	ENSG00000158966		0.428	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		153	0.00	0	G	NM_020925		65139111	65139111	+1	no_errors	ENST00000371073	ensembl	human	known	69_37n	silent	39	13.33	6	SNP	0.005	A
CACNG4	27092	genome.wustl.edu	37	17	65021037	65021037	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:65021037C>T	ENST00000262138.3	+	3	368	c.366C>T	c.(364-366)ggC>ggT	p.G122G		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	122					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			TGCTGGGTGGCCTGTGCATCG	0.667																																						dbGAP											0													107.0	92.0	97.0					17																	65021037		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"""Calcium channel subunits"""	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.366C>T	17.37:g.65021037C>T			B2RCK0	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g4su,prints_VDCC_gsu,prints_Claudin	p.G122	ENST00000262138.3	37	c.366	CCDS11667.1	17																																																																																			CACNG4	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin	ENSG00000075461		0.667	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG4	HGNC	protein_coding	OTTHUMT00000447036.1	259	0.00	0	C	NM_014405		65021037	65021037	+1	no_errors	ENST00000262138	ensembl	human	known	69_37n	silent	243	14.74	42	SNP	0.790	T
CACTIN	58509	genome.wustl.edu	37	19	3619104	3619104	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:3619104T>C	ENST00000429344.2	-	5	1073	c.1021A>G	c.(1021-1023)Atg>Gtg	p.M341V	CACTIN_ENST00000248420.5_Missense_Mutation_p.M341V|CACTIN_ENST00000221899.3_Missense_Mutation_p.M273V	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	341					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										AGGTCCTCCATGTCGGCCACG	0.637																																						dbGAP											0													51.0	58.0	56.0					19																	3619104		2128	4229	6357	-	-	-	SO:0001583	missense	0			BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.1021A>G	19.37:g.3619104T>C	ENSP00000415078:p.Met341Val		A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP	pfam_Cactin_dom,pfam_Cactin_C	p.M273V	ENST00000429344.2	37	c.817	CCDS45920.1	19	.	.	.	.	.	.	.	.	.	.	T	14.55	2.569744	0.45798	.	.	ENSG00000105298	ENST00000429344;ENST00000248420;ENST00000446452;ENST00000221899	.	.	.	4.73	3.66	0.41972	Cactin, domain (1);	0.100245	0.64402	D	0.000004	T	0.43765	0.1262	L	0.31926	0.97	0.41510	D	0.988331	B;B	0.25609	0.064;0.13	B;B	0.25291	0.054;0.059	T	0.32640	-0.9899	9	0.52906	T	0.07	.	7.8787	0.29610	0.332:0.0:0.0:0.668	.	341;341	Q8WUQ7-2;Q8WUQ7	.;CS029_HUMAN	V	341;341;153;273	.	ENSP00000221899:M273V	M	-	1	0	C19orf29	3570104	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.135000	0.50546	0.606000	0.29965	0.459000	0.35465	ATG	CACTIN	-	pfam_Cactin_dom	ENSG00000105298		0.637	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACTIN	HGNC	protein_coding	OTTHUMT00000457370.2	195	0.00	0	T			3619104	3619104	-1	no_errors	ENST00000221899	ensembl	human	known	69_37n	missense	319	13.32	49	SNP	1.000	C
CADM3	57863	genome.wustl.edu	37	1	159166177	159166177	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:159166177C>T	ENST00000368125.4	+	6	872	c.715C>T	c.(715-717)Cca>Tca	p.P239S	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Missense_Mutation_p.P273S	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	239	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GATGATTAGGCCAGACCCTCC	0.517											OREG0013913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													204.0	139.0	161.0					1																	159166177		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.715C>T	1.37:g.159166177C>T	ENSP00000357107:p.Pro239Ser	1799	Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like	p.P273S	ENST00000368125.4	37	c.817	CCDS44251.1	1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574590	0.28092	.	.	ENSG00000162706	ENST00000368124;ENST00000368125;ENST00000416746	T;T;T	0.59638	2.25;2.25;0.25	4.78	4.78	0.61160	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.068231	0.64402	D	0.000017	T	0.41143	0.1146	M	0.87900	2.915	0.50313	D	0.999864	B;B;B	0.33940	0.022;0.201;0.433	B;B;B	0.28305	0.041;0.088;0.066	T	0.50783	-0.8787	10	0.07482	T	0.82	.	13.1757	0.59626	0.0:1.0:0.0:0.0	.	193;239;273	Q8N126-3;Q8N126;Q8N126-2	.;CADM3_HUMAN;.	S	273;239;193	ENSP00000357106:P273S;ENSP00000357107:P239S;ENSP00000387802:P193S	ENSP00000357106:P273S	P	+	1	0	CADM3	157432801	1.000000	0.71417	0.986000	0.45419	0.413000	0.31143	2.453000	0.44970	2.470000	0.83445	0.655000	0.94253	CCA	CADM3	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000162706		0.517	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CADM3	HGNC	protein_coding	OTTHUMT00000090330.1	425	0.00	0	C	NM_021189		159166177	159166177	+1	no_errors	ENST00000368124	ensembl	human	known	69_37n	missense	315	10.26	36	SNP	0.999	T
CALCRL	10203	genome.wustl.edu	37	2	188245463	188245463	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:188245463G>A	ENST00000409998.1	-	7	1017	c.236C>T	c.(235-237)gCa>gTa	p.A79V	CALCRL_ENST00000392370.3_Missense_Mutation_p.A79V|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.A79V|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	79					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			AGTTCCTGCTGCAACATCGTT	0.413																																						dbGAP											0													67.0	64.0	65.0					2																	188245463		2203	4300	6503	-	-	-	SO:0001583	missense	0			U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.236C>T	2.37:g.188245463G>A	ENSP00000386972:p.Ala79Val		A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt	p.A79V	ENST00000409998.1	37	c.236	CCDS2293.1	2	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318194	0.40996	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	T;T;T	0.64618	-0.11;-0.11;-0.11	5.42	3.57	0.40892	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (3);	0.433231	0.21055	N	0.080926	T	0.47764	0.1463	L	0.38838	1.175	0.09310	N	1	B	0.30021	0.265	B	0.26202	0.067	T	0.31336	-0.9947	10	0.32370	T	0.25	.	9.3388	0.38067	0.1796:0.0:0.8204:0.0	.	79	Q16602	CALRL_HUMAN	V	79	ENSP00000376177:A79V;ENSP00000386972:A79V;ENSP00000387190:A79V	ENSP00000376177:A79V	A	-	2	0	CALCRL	187953708	0.140000	0.22579	0.274000	0.24659	0.546000	0.35178	2.485000	0.45250	0.803000	0.34113	0.650000	0.86243	GCA	CALCRL	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt	ENSG00000064989		0.413	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CALCRL	HGNC	protein_coding	OTTHUMT00000334648.1	85	0.00	0	G	NM_005795		188245463	188245463	-1	no_errors	ENST00000392370	ensembl	human	known	69_37n	missense	50	19.35	12	SNP	0.004	A
CALML3	810	genome.wustl.edu	37	10	5567123	5567123	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:5567123C>T	ENST00000315238.1	+	1	200	c.75C>T	c.(73-75)gaC>gaT	p.D25D	CALML3-AS1_ENST00000545372.1_RNA|CALML3-AS1_ENST00000543008.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000542093.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	25	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(3)|lung(2)	5						AGGATGGGGACGGCTGCATCA	0.657																																					Colon(173;2070 2647 27580 52203)	dbGAP											0													65.0	55.0	59.0					10																	5567123		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X13461	CCDS7069.1	10p15.1	2013-01-10			ENSG00000178363	ENSG00000178363		"""EF-hand domain containing"""	1452	protein-coding gene	gene with protein product		114184				8476923	Standard	NM_005185		Approved	CLP	uc001iie.1	P27482	OTTHUMG00000017597	ENST00000315238.1:c.75C>T	10.37:g.5567123C>T			B2R9V6|Q5SQI4	Silent	SNP	pfam_EF-hand,pfam_EF-hand_Ca_insen,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.D25	ENST00000315238.1	37	c.75	CCDS7069.1	10																																																																																			CALML3	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000178363		0.657	CALML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALML3	HGNC	protein_coding	OTTHUMT00000046555.1	100	0.00	0	C	NM_005185		5567123	5567123	+1	no_errors	ENST00000315238	ensembl	human	known	69_37n	silent	183	11.59	24	SNP	0.955	T
CAMK1G	57172	genome.wustl.edu	37	1	209776626	209776626	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:209776626A>G	ENST00000009105.1	+	4	534	c.289A>G	c.(289-291)Atg>Gtg	p.M97V	CAMK1G_ENST00000361322.2_Missense_Mutation_p.M97V			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	97	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTACCTGGTCATGCAGCTGTA	0.507																																					Ovarian(163;530 1939 9680 28669 48710)	dbGAP											0													132.0	118.0	123.0					1																	209776626		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.289A>G	1.37:g.209776626A>G	ENSP00000009105:p.Met97Val		Q86UH5|Q9Y3J7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.M97V	ENST00000009105.1	37	c.289	CCDS1486.1	1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.265240	0.80358	.	.	ENSG00000008118	ENST00000009105;ENST00000423146;ENST00000361322	T;T;T	0.49139	0.79;1.55;0.79	5.11	5.11	0.69529	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.61800	0.2376	M	0.80746	2.51	0.80722	D	1	P;B	0.52316	0.952;0.299	P;P	0.51266	0.664;0.623	T	0.69026	-0.5254	10	0.66056	D	0.02	.	15.1966	0.73096	1.0:0.0:0.0:0.0	.	97;97	Q96NX5-2;Q96NX5	.;KCC1G_HUMAN	V	97	ENSP00000009105:M97V;ENSP00000392173:M97V;ENSP00000354861:M97V	ENSP00000009105:M97V	M	+	1	0	CAMK1G	207843249	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.664000	0.91139	2.047000	0.60756	0.460000	0.39030	ATG	CAMK1G	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000008118		0.507	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK1G	HGNC	protein_coding	OTTHUMT00000088526.1	405	0.00	0	A	NM_020439		209776626	209776626	+1	no_errors	ENST00000009105	ensembl	human	known	69_37n	missense	130	27.07	49	SNP	1.000	G
CAMKK1	84254	genome.wustl.edu	37	17	3786401	3786401	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:3786401G>A	ENST00000348335.2	-	6	731	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	CAMKK1_ENST00000158166.5_Missense_Mutation_p.R195W|CAMKK1_ENST00000381771.2_Missense_Mutation_p.R195W|CAMKK1_ENST00000381769.2_Missense_Mutation_p.R222W	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	195	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		TGGTACACCCGCTCCAGGGGC	0.612																																						dbGAP											0													84.0	70.0	75.0					17																	3786401		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.583C>T	17.37:g.3786401G>A	ENSP00000323118:p.Arg195Trp		Q9BQH3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R195W	ENST00000348335.2	37	c.583	CCDS11038.1	17	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138284	0.77775	.	.	ENSG00000004660	ENST00000381769;ENST00000348335;ENST00000381771;ENST00000158166	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.43	4.44	0.53790	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.058381	0.64402	D	0.000002	T	0.66925	0.2839	M	0.78916	2.43	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.987	T	0.70274	-0.4917	10	0.72032	D	0.01	-23.5938	11.0825	0.48068	0.0:0.0:0.6632:0.3368	.	195;195	F8W9H1;Q8N5S9	.;KKCC1_HUMAN	W	222;195;195;195	ENSP00000371188:R222W;ENSP00000323118:R195W;ENSP00000371190:R195W;ENSP00000158166:R195W	ENSP00000158166:R195W	R	-	1	2	CAMKK1	3733150	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.775000	0.47702	1.252000	0.44001	0.650000	0.86243	CGG	CAMKK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000004660		0.612	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKK1	HGNC	protein_coding	OTTHUMT00000207456.1	148	0.00	0	G	NM_032294, NM_172206, NM_172207		3786401	3786401	-1	no_errors	ENST00000381771	ensembl	human	known	69_37n	missense	167	12.04	23	SNP	1.000	A
CAMSAP1	157922	genome.wustl.edu	37	9	138774778	138774778	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:138774778C>T	ENST00000389532.4	-	2	371	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.A103T|CAMSAP1_ENST00000312405.6_5'Flank	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	103					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCCTGTAAGGCGGCCACCTGG	0.582																																						dbGAP											0													67.0	65.0	66.0					9																	138774778		692	1591	2283	-	-	-	SO:0001583	missense	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.307G>A	9.37:g.138774778C>T	ENSP00000374183:p.Ala103Thr		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.A103T	ENST00000389532.4	37	c.307	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	C	11.92	1.784008	0.31593	.	.	ENSG00000130559	ENST00000389532;ENST00000409386	T;T	0.14766	2.5;2.48	5.6	-0.697	0.11284	.	0.373406	0.27609	N	0.018614	T	0.09158	0.0226	L	0.47716	1.5	0.09310	N	0.999997	B	0.18310	0.027	B	0.11329	0.006	T	0.22138	-1.0225	10	0.35671	T	0.21	-4.9633	3.0006	0.06012	0.2719:0.4245:0.217:0.0866	.	103	Q5T5Y3	CAMP1_HUMAN	T	103	ENSP00000374183:A103T;ENSP00000386420:A103T	ENSP00000374183:A103T	A	-	1	0	CAMSAP1	137914599	0.056000	0.20664	0.001000	0.08648	0.646000	0.38490	0.467000	0.22035	-0.336000	0.08438	0.655000	0.94253	GCC	CAMSAP1	-	NULL	ENSG00000130559		0.582	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	143	0.00	0	C	XM_351857		138774778	138774778	-1	no_errors	ENST00000409386	ensembl	human	known	69_37n	missense	164	17.50	35	SNP	0.093	T
CASK	8573	genome.wustl.edu	37	X	41495899	41495899	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:41495899C>T	ENST00000378163.1	-	9	1321	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	CASK_ENST00000442742.2_Missense_Mutation_p.A283T|RN7SL406P_ENST00000582021.1_RNA|CASK_ENST00000318588.9_Missense_Mutation_p.A283T|CASK_ENST00000378166.4_Missense_Mutation_p.A283T|CASK_ENST00000378154.1_Missense_Mutation_p.A283T|CASK_ENST00000361962.4_Missense_Mutation_p.A283T|CASK_ENST00000378158.1_Missense_Mutation_p.A283T|CASK_ENST00000421587.2_Missense_Mutation_p.A283T			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	283					calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						ATCTTGTAGGCGTAACGATCC	0.333																																					NSCLC(42;104 1086 3090 27189 35040)	dbGAP											0													173.0	145.0	155.0					X																	41495899		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.847G>A	X.37:g.41495899C>T	ENSP00000367405:p.Ala283Thr		A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin	p.A283T	ENST00000378163.1	37	c.847		X	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590523	0.86851	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378158;ENST00000378166;ENST00000442742;ENST00000378154	T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.78	5.78	0.91487	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000020	T	0.70237	0.3201	M	0.78049	2.395	0.80722	D	1	P;D;P;P	0.67145	0.887;0.996;0.649;0.517	B;D;B;B	0.66716	0.132;0.946;0.123;0.187	T	0.72877	-0.4159	10	0.66056	D	0.02	.	18.8226	0.92103	0.0:1.0:0.0:0.0	.	283;283;283;283	O14936-3;O14936-4;O14936-2;O14936	.;.;.;CSKP_HUMAN	T	283	ENSP00000400526:A283T;ENSP00000322727:A283T;ENSP00000354641:A283T;ENSP00000367405:A283T;ENSP00000367400:A283T;ENSP00000367408:A283T;ENSP00000398007:A283T;ENSP00000367396:A283T	ENSP00000322727:A283T	A	-	1	0	CASK	41380843	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.095000	0.76952	2.577000	0.86979	0.544000	0.68410	GCC	CASK	-	superfamily_Kinase-like_dom	ENSG00000147044		0.333	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	CASK	HGNC	protein_coding	OTTHUMT00000056285.1	265	0.00	0	C	NM_003688		41495899	41495899	-1	no_errors	ENST00000378163	ensembl	human	known	69_37n	missense	80	13.98	13	SNP	1.000	T
CBFB	865	genome.wustl.edu	37	16	67063684	67063684	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:67063684C>T	ENST00000290858.6	+	2	394	c.133C>T	c.(133-135)Cag>Tag	p.Q45*	CBFB_ENST00000412916.2_Nonsense_Mutation_p.Q45*|CBFB_ENST00000561924.2_5'UTR	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	45					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		GGCACGCTTCCAGAACGCCTG	0.701			T	MYH11	AML																																	dbGAP		Dom	yes		16	16q22	865	"""core-binding factor, beta subunit"""		L	0													15.0	18.0	17.0					16																	67063684		2187	4275	6462	-	-	-	SO:0001587	stop_gained	0			BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.133C>T	16.37:g.67063684C>T	ENSP00000290858:p.Gln45*		A8K347|Q13124|Q9HCT2	Nonsense_Mutation	SNP	pfam_CBF_beta,superfamily_CBF_beta	p.Q45*	ENST00000290858.6	37	c.133	CCDS10827.1	16	.	.	.	.	.	.	.	.	.	.	c	37	6.039728	0.97226	.	.	ENSG00000067955	ENST00000290858;ENST00000412916	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-6.4457	15.7025	0.77552	0.0:1.0:0.0:0.0	.	.	.	.	X	45	.	ENSP00000290858:Q45X	Q	+	1	0	CBFB	65621185	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.915000	0.75770	2.301000	0.77427	0.486000	0.48141	CAG	CBFB	-	pfam_CBF_beta,superfamily_CBF_beta	ENSG00000067955		0.701	CBFB-001	KNOWN	basic|CCDS	protein_coding	CBFB	HGNC	protein_coding	OTTHUMT00000268843.2	14	0.00	0	C	NM_001755		67063684	67063684	+1	no_errors	ENST00000290858	ensembl	human	known	69_37n	nonsense	7	50.00	7	SNP	1.000	T
CBLL1	79872	genome.wustl.edu	37	7	107395899	107395899	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:107395899A>G	ENST00000440859.3	+	5	870	c.403A>G	c.(403-405)Att>Gtt	p.I135V	CBLL1_ENST00000222597.2_Missense_Mutation_p.I134V|CBLL1_ENST00000415884.2_Intron	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	135					negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TGACTGTGCTATTTTACATGA	0.249																																						dbGAP											0													110.0	117.0	115.0					7																	107395899		2203	4298	6501	-	-	-	SO:0001583	missense	0			AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.403A>G	7.37:g.107395899A>G	ENSP00000401277:p.Ile135Val		B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	pfscan_Znf_RING	p.I135V	ENST00000440859.3	37	c.403	CCDS5747.1	7	.	.	.	.	.	.	.	.	.	.	A	8.938	0.965206	0.18583	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000420796;ENST00000417616	T;T;T	0.31769	1.49;1.48;1.54	5.79	5.79	0.91817	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.066255	0.64402	D	0.000011	T	0.17152	0.0412	N	0.22421	0.69	0.33784	D	0.624665	B;B	0.15930	0.0;0.015	B;B	0.16289	0.001;0.015	T	0.24368	-1.0162	10	0.08381	T	0.77	-2.2391	7.7418	0.28845	0.7194:0.1432:0.0:0.1374	.	134;135	B7ZM03;Q75N03	.;HAKAI_HUMAN	V	135;14;134;85;81	ENSP00000401277:I135V;ENSP00000222597:I134V;ENSP00000410615:I85V	ENSP00000222597:I134V	I	+	1	0	CBLL1	107183135	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.730000	0.38125	2.200000	0.70718	0.455000	0.32223	ATT	CBLL1	-	pfscan_Znf_RING	ENSG00000105879		0.249	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CBLL1	HGNC	protein_coding	OTTHUMT00000337156.2	153	0.00	0	A	NM_024814		107395899	107395899	+1	no_errors	ENST00000440859	ensembl	human	known	69_37n	missense	64	15.79	12	SNP	1.000	G
CBX4	8535	genome.wustl.edu	37	17	77808911	77808911	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:77808911T>C	ENST00000269397.4	-	5	707	c.530A>G	c.(529-531)cAc>cGc	p.H177R	CBX4_ENST00000448310.1_3'UTR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	177	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGCCTCCTTGTGGCCGCCCTG	0.677											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													57.0	59.0	58.0					17																	77808911		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.530A>G	17.37:g.77808911T>C	ENSP00000269397:p.His177Arg	1178	B1PJR7|Q6TPI8|Q96C04	Missense_Mutation	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,prints_Chromo_dom_subgr,pfscan_Chromo_domain/shadow	p.H177R	ENST00000269397.4	37	c.530	CCDS32758.1	17	.	.	.	.	.	.	.	.	.	.	t	13.37	2.218230	0.39201	.	.	ENSG00000141582	ENST00000269397	.	.	.	4.16	4.16	0.48862	.	0.577186	0.15819	U	0.243116	T	0.34542	0.0901	L	0.44542	1.39	0.80722	D	1	P	0.38978	0.652	B	0.27380	0.079	T	0.09907	-1.0653	9	0.17369	T	0.5	-6.0788	7.1319	0.25507	0.0:0.116:0.0:0.884	.	177	O00257	CBX4_HUMAN	R	177	.	ENSP00000269397:H177R	H	-	2	0	CBX4	75423506	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.861000	0.39438	1.540000	0.49301	0.248000	0.18094	CAC	CBX4	-	NULL	ENSG00000141582		0.677	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX4	HGNC	protein_coding	OTTHUMT00000318007.1	162	0.00	0	T	NM_003655		77808911	77808911	-1	no_errors	ENST00000269397	ensembl	human	known	69_37n	missense	259	16.35	51	SNP	1.000	C
CBX5	23468	genome.wustl.edu	37	12	54645832	54645832	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:54645832delT	ENST00000439541.2	-	3	442	c.317delA	c.(316-318)aagfs	p.K106fs	CBX5_ENST00000550411.1_Frame_Shift_Del_p.K106fs|CBX5_ENST00000209875.4_Frame_Shift_Del_p.K106fs	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5	106					blood coagulation (GO:0007596)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	chromocenter (GO:0010369)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear heterochromatin (GO:0005720)|nuclear pericentric heterochromatin (GO:0031618)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|protein binding, bridging (GO:0030674)|repressing transcription factor binding (GO:0070491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TACCTCTCTCTTTTTTTTAGA	0.323																																					Colon(153;588 2459 18334 48613)	dbGAP											0													142.0	148.0	146.0					12																	54645832		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U26311	CCDS8875.1	12q13.13	2010-07-06	2010-06-24		ENSG00000094916	ENSG00000094916			1555	protein-coding gene	gene with protein product	"""HP1 alpha homolog (Drosophila)"""	604478	"""chromobox homolog 5 (Drosophila HP1 alpha)"", ""chromobox homolog 5 (HP1 alpha homolog, Drosophila)"""			8663349	Standard	NM_012117		Approved	HP1Hs-alpha, HP1, HP1-ALPHA	uc001sfj.4	P45973		ENST00000439541.2:c.317delA	12.37:g.54645832delT	ENSP00000401009:p.Lys106fs		B2R8T9	Frame_Shift_Del	DEL	pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.K106fs	ENST00000439541.2	37	c.317	CCDS8875.1	12																																																																																			CBX5	-	superfamily_Chromodomain-like	ENSG00000094916		0.323	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CBX5	HGNC	protein_coding	OTTHUMT00000405468.1	66	0.00	0	T	NM_012117		54645832	54645832	-1	no_errors	ENST00000209875	ensembl	human	known	69_37n	frame_shift_del	134	14.01	22	DEL	1.000	-
CCAR1	55749	genome.wustl.edu	37	10	70516059	70516059	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:70516059G>A	ENST00000265872.6	+	14	1774	c.1655G>A	c.(1654-1656)cGc>cAc	p.R552H	CCAR1_ENST00000543719.1_Missense_Mutation_p.R537H|SNORD98_ENST00000408255.1_RNA|CCAR1_ENST00000483264.1_3'UTR|CCAR1_ENST00000535016.1_Missense_Mutation_p.R537H	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	552					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CGCTACCATCGCCCTGAGGAG	0.463																																						dbGAP											0													124.0	122.0	123.0					10																	70516059		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1655G>A	10.37:g.70516059G>A	ENSP00000265872:p.Arg552His		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.R552H	ENST00000265872.6	37	c.1655	CCDS7282.1	10	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922370	0.52653	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41	5.38	5.38	0.77491	.	0.068843	0.64402	D	0.000003	T	0.77751	0.4177	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;P	0.85130	0.991;0.997;0.847	T	0.81801	-0.0766	10	0.87932	D	0	-0.1199	19.1212	0.93364	0.0:0.0:1.0:0.0	.	537;552;526	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	H	552;537;537;537;526;357	ENSP00000265872:R552H;ENSP00000441820:R537H;ENSP00000445254:R537H;ENSP00000439252:R537H;ENSP00000438610:R526H;ENSP00000439642:R357H	ENSP00000265872:R552H	R	+	2	0	CCAR1	70186065	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.747000	0.98863	2.533000	0.85409	0.585000	0.79938	CGC	CCAR1	-	NULL	ENSG00000060339		0.463	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR1	HGNC	protein_coding	OTTHUMT00000048356.2	245	0.00	0	G	NM_018237		70516059	70516059	+1	no_errors	ENST00000265872	ensembl	human	known	69_37n	missense	61	45.54	51	SNP	1.000	A
CCDC114	93233	genome.wustl.edu	37	19	48814878	48814878	+	Missense_Mutation	SNP	G	G	A	rs574119110		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:48814878G>A	ENST00000315396.7	-	5	1100	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	140					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		AGCTCCTCCCGCAGGGCCGCA	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		20002	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													83.0	70.0	74.0					19																	48814878		692	1591	2283	-	-	-	SO:0001583	missense	0			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.418C>T	19.37:g.48814878G>A	ENSP00000318429:p.Arg140Trp		Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	NULL	p.R140W	ENST00000315396.7	37	c.418	CCDS12714.2	19	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845941	0.51164	.	.	ENSG00000105479	ENST00000315396	D	0.92099	-2.97	4.41	2.04	0.26737	.	.	.	.	.	D	0.95385	0.8502	M	0.86268	2.805	0.42774	D	0.993843	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94648	0.7836	9	0.87932	D	0	-22.5088	9.0039	0.36100	0.0:0.0:0.5993:0.4007	.	140;140	Q96M63;Q96M63-5	CC114_HUMAN;.	W	140	ENSP00000318429:R140W	ENSP00000318429:R140W	R	-	1	2	CCDC114	53506690	0.716000	0.27956	0.998000	0.56505	0.342000	0.28953	0.339000	0.19875	0.960000	0.38005	0.655000	0.94253	CGG	CCDC114	-	NULL	ENSG00000105479		0.582	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC114	HGNC	protein_coding	OTTHUMT00000343207.1	302	0.00	0	G	NM_144577		48814878	48814878	-1	no_errors	ENST00000315396	ensembl	human	known	69_37n	missense	227	34.01	117	SNP	0.997	A
CCDC13	152206	genome.wustl.edu	37	3	42777344	42777344	+	Missense_Mutation	SNP	C	C	T	rs558541969		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:42777344C>T	ENST00000310232.6	-	10	1309	c.1226G>A	c.(1225-1227)cGa>cAa	p.R409Q	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	409										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CTGGGACACTCGCGTTTTCTC	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		20074	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													80.0	63.0	69.0					3																	42777344		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1226G>A	3.37:g.42777344C>T	ENSP00000309836:p.Arg409Gln			Missense_Mutation	SNP	superfamily_Prefoldin	p.R409Q	ENST00000310232.6	37	c.1226	CCDS2705.1	3	.	.	.	.	.	.	.	.	.	.	C	4.776	0.144265	0.09134	.	.	ENSG00000244607	ENST00000310232	T	0.22336	1.96	4.27	3.37	0.38596	.	0.380726	0.25529	N	0.030048	T	0.11452	0.0279	N	0.21448	0.665	0.09310	N	1	B	0.18013	0.025	B	0.10450	0.005	T	0.17776	-1.0358	10	0.21014	T	0.42	.	6.4466	0.21879	0.0:0.7231:0.0:0.2769	.	409	Q8IYE1	CCD13_HUMAN	Q	409	ENSP00000309836:R409Q	ENSP00000309836:R409Q	R	-	2	0	CCDC13	42752348	0.186000	0.23225	0.012000	0.15200	0.047000	0.14425	1.923000	0.40055	2.116000	0.64780	0.505000	0.49811	CGA	CCDC13	-	NULL	ENSG00000244607		0.637	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC13	HGNC	protein_coding	OTTHUMT00000256652.1	223	0.00	0	C	NM_144719		42777344	42777344	-1	no_errors	ENST00000310232	ensembl	human	known	69_37n	missense	167	13.92	27	SNP	0.005	T
CCDC137	339230	genome.wustl.edu	37	17	79639648	79639648	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:79639648T>C	ENST00000329214.8	+	6	1187	c.784T>C	c.(784-786)Tac>Cac	p.Y262H		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	262							poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CGTGCAGGCCTACAGAGCGTT	0.677																																						dbGAP											0													13.0	18.0	17.0					17																	79639648		2022	4180	6202	-	-	-	SO:0001583	missense	0			BC009369	CCDS42400.1	17q25.3	2008-07-04				ENSG00000185298			33451	protein-coding gene	gene with protein product		614271					Standard	NM_199287		Approved	MGC16597	uc002kbc.4	Q6PK04		ENST00000329214.8:c.784T>C	17.37:g.79639648T>C	ENSP00000329360:p.Tyr262His			Missense_Mutation	SNP	NULL	p.Y262H	ENST00000329214.8	37	c.784	CCDS42400.1	17	.	.	.	.	.	.	.	.	.	.	T	17.24	3.338352	0.60963	.	.	ENSG00000185298	ENST00000329214	D	0.90261	-2.64	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.95182	0.8438	M	0.79805	2.47	0.44643	D	0.997628	D	0.89917	1.0	D	0.91635	0.999	D	0.95801	0.8833	10	0.87932	D	0	-1.6216	14.8195	0.70062	0.0:0.0:0.0:1.0	.	262	Q6PK04	CC137_HUMAN	H	262	ENSP00000329360:Y262H	ENSP00000329360:Y262H	Y	+	1	0	CCDC137	77250053	1.000000	0.71417	0.866000	0.34008	0.065000	0.16274	5.813000	0.69201	1.920000	0.55613	0.492000	0.49549	TAC	CCDC137	-	NULL	ENSG00000185298		0.677	CCDC137-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC137	HGNC	protein_coding	OTTHUMT00000440387.1	53	0.00	0	T			79639648	79639648	+1	no_errors	ENST00000329214	ensembl	human	known	69_37n	missense	94	12.96	14	SNP	1.000	C
CFAP58	159686	genome.wustl.edu	37	10	106207523	106207523	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:106207523delA	ENST00000369704.3	+	16	2458	c.2324delA	c.(2323-2325)gaafs	p.E775fs		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		775						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAGGCTGCGGAACAGCTGAAG	0.552																																						dbGAP											0													55.0	51.0	52.0					10																	106207523		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0																														ENST00000369704.3:c.2324delA	10.37:g.106207523delA	ENSP00000358718:p.Glu775fs		D3DRA6|Q8NA27	Frame_Shift_Del	DEL	superfamily_Homeodomain-like	p.E775fs	ENST00000369704.3	37	c.2324	CCDS31282.1	10																																																																																			CCDC147	-	superfamily_Homeodomain-like	ENSG00000120051		0.552	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC147	HGNC	protein_coding	OTTHUMT00000050216.1	92	0.00	0	A			106207523	106207523	+1	no_errors	ENST00000369704	ensembl	human	known	69_37n	frame_shift_del	14	11.76	2	DEL	1.000	-
CCDC154	645811	genome.wustl.edu	37	16	1486793	1486793	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:1486793C>T	ENST00000389176.3	-	12	1503	c.1337G>A	c.(1336-1338)gGt>gAt	p.G446D	CCDC154_ENST00000409671.1_Missense_Mutation_p.G292D	NM_001143980.1	NP_001137452.1	A6NI56	CC154_HUMAN	coiled-coil domain containing 154	446						endosome (GO:0005768)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)	5						CCTCTCTGCACCTTCCCATTC	0.632																																						dbGAP											0													66.0	63.0	64.0					16																	1486793		692	1591	2283	-	-	-	SO:0001583	missense	0					16p13.3	2012-12-13			ENSG00000197599	ENSG00000197599			34454	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 29"""	C16orf29			Standard	NM_001143980		Approved	LOC645811	uc010uve.2	A6NI56	OTTHUMG00000154097	ENST00000389176.3:c.1337G>A	16.37:g.1486793C>T	ENSP00000373828:p.Gly446Asp		G9JV18	Missense_Mutation	SNP	NULL	p.G446D	ENST00000389176.3	37	c.1337		16	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335159	0.60853	.	.	ENSG00000197599	ENST00000409671;ENST00000389176	.	.	.	4.11	0.527	0.17084	.	0.389466	0.19156	N	0.121336	T	0.15696	0.0378	L	0.27053	0.805	0.09310	N	1	P	0.41131	0.739	B	0.41894	0.369	T	0.11179	-1.0598	9	0.10636	T	0.68	-0.8456	2.4997	0.04630	0.24:0.4463:0.0:0.3136	.	446	A6NI56	CC154_HUMAN	D	292;446	.	ENSP00000373828:G446D	G	-	2	0	CCDC154	1426794	0.000000	0.05858	0.030000	0.17652	0.675000	0.39556	0.246000	0.18160	0.302000	0.22762	0.491000	0.48974	GGT	CCDC154	-	NULL	ENSG00000197599		0.632	CCDC154-201	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC154	HGNC	protein_coding		182	0.00	0	C	NM_001143980		1486793	1486793	-1	no_errors	ENST00000389176	ensembl	human	known	69_37n	missense	178	15.96	34	SNP	0.013	T
CCDC168	643677	genome.wustl.edu	37	13	103382210	103382210	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr13:103382210G>A	ENST00000322527.2	-	1	6949	c.6950C>T	c.(6949-6951)gCc>gTc	p.A2317V		NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168	2317																	ATCAGATCTGGCCTTCTTTCT	0.408																																						dbGAP											0													147.0	127.0	133.0					13																	103382210		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS73596.1	13q33.1	2014-06-17	2011-08-09	2011-08-09	ENSG00000175820	ENSG00000175820			26851	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 40"""	C13orf40			Standard	NM_001146197		Approved	FLJ40176	uc001vpm.3	Q8NDH2	OTTHUMG00000187287	ENST00000322527.2:c.6950C>T	13.37:g.103382210G>A	ENSP00000320232:p.Ala2317Val		Q8N800	Missense_Mutation	SNP	NULL	p.A2317V	ENST00000322527.2	37	c.6950		13	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942440	0.53079	.	.	ENSG00000175820	ENST00000322527	T	0.05139	3.49	5.16	2.43	0.29744	.	0.833099	0.09770	N	0.758066	T	0.07098	0.0180	L	0.52573	1.65	0.09310	N	1	P	0.37101	0.582	B	0.34722	0.188	T	0.34976	-0.9807	10	0.87932	D	0	3.7396	5.2465	0.15500	0.1851:0.1692:0.6457:0.0	.	2317	Q8NDH2	CC168_HUMAN	V	2317	ENSP00000320232:A2317V	ENSP00000320232:A2317V	A	-	2	0	CCDC168	102180211	0.001000	0.12720	0.000000	0.03702	0.124000	0.20399	0.895000	0.28363	0.262000	0.21774	0.563000	0.77884	GCC	CCDC168	-	NULL	ENSG00000175820		0.408	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	CCDC168	HGNC	protein_coding		167	0.60	1	G	NM_001146197		103382210	103382210	-1	no_errors	ENST00000322527	ensembl	human	known	69_37n	missense	32	13.51	5	SNP	0.000	A
CCDC40	55036	genome.wustl.edu	37	17	78059842	78059842	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:78059842T>C	ENST00000397545.4	+	14	2303	c.2276T>C	c.(2275-2277)cTg>cCg	p.L759P	CCDC40_ENST00000374877.3_Missense_Mutation_p.L759P	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	759					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATCAAAAGGCTGAGCAAGCTG	0.577																																						dbGAP											0													57.0	63.0	61.0					17																	78059842		1981	4139	6120	-	-	-	SO:0001583	missense	0			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2276T>C	17.37:g.78059842T>C	ENSP00000380679:p.Leu759Pro		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	pfam_E3_ubiquit_lig_BRE1	p.L759P	ENST00000397545.4	37	c.2276	CCDS42395.1	17	.	.	.	.	.	.	.	.	.	.	T	16.63	3.175847	0.57692	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.64260	-0.05;-0.09	4.73	4.73	0.59995	.	.	.	.	.	T	0.77532	0.4144	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.80721	-0.1256	9	0.87932	D	0	-24.6967	14.2249	0.65853	0.0:0.0:0.0:1.0	.	759;542	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	P	759	ENSP00000364011:L759P;ENSP00000380679:L759P	ENSP00000364011:L759P	L	+	2	0	CCDC40	75674437	1.000000	0.71417	0.985000	0.45067	0.472000	0.32918	6.000000	0.70678	1.773000	0.52216	0.421000	0.28195	CTG	CCDC40	-	NULL	ENSG00000141519		0.577	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2	59	0.00	0	T	XM_371082		78059842	78059842	+1	no_errors	ENST00000397545	ensembl	human	known	69_37n	missense	77	14.44	13	SNP	0.890	C
CCDC73	493860	genome.wustl.edu	37	11	32676507	32676507	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:32676507delT	ENST00000335185.5	-	10	700	c.657delA	c.(655-657)aaafs	p.K219fs	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	219										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CTGAGGCTGCTTTTTTTAGTT	0.303																																						dbGAP											0													80.0	67.0	71.0					11																	32676507		1809	4051	5860	-	-	-	SO:0001589	frameshift_variant	0			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.657delA	11.37:g.32676507delT	ENSP00000335325:p.Lys219fs		Q6P5Q7|Q6ZMW0|Q86WE7	Frame_Shift_Del	DEL	NULL	p.A220fs	ENST00000335185.5	37	c.657	CCDS41630.1	11																																																																																			CCDC73	-	NULL	ENSG00000186714		0.303	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC73	HGNC	protein_coding	OTTHUMT00000388874.2	84	0.00	0	T	NM_001008391		32676507	32676507	-1	no_errors	ENST00000335185	ensembl	human	known	69_37n	frame_shift_del	46	14.81	8	DEL	0.987	-
CCNE2	9134	genome.wustl.edu	37	8	95893941	95893941	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:95893941T>C	ENST00000520509.1	-	12	1386	c.1134A>G	c.(1132-1134)aaA>aaG	p.K378K	RP11-347C18.5_ENST00000605911.1_RNA|CCNE2_ENST00000308108.4_Silent_p.K378K|CCNE2_ENST00000396133.3_3'UTR|INTS8_ENST00000523731.1_3'UTR			O96020	CCNE2_HUMAN	cyclin E2	378					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					ACTGTCCCCCTTTTCTGAAGG	0.398																																						dbGAP											0													285.0	265.0	272.0					8																	95893941		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.1134A>G	8.37:g.95893941T>C			O95439	Silent	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.K378	ENST00000520509.1	37	c.1134	CCDS6264.1	8																																																																																			CCNE2	-	NULL	ENSG00000175305		0.398	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNE2	HGNC	protein_coding	OTTHUMT00000379808.1	419	0.00	0	T	NM_057749, NM_004702		95893941	95893941	-1	no_errors	ENST00000308108	ensembl	human	known	69_37n	silent	304	11.08	38	SNP	0.996	C
CD9	928	genome.wustl.edu	37	12	6309663	6309663	+	5'UTR	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:6309663A>G	ENST00000382518.1	+	0	434				CD9_ENST00000382515.2_5'Flank|CD9_ENST00000009180.4_5'UTR			P21926	CD9_HUMAN	CD9 molecule						blood coagulation (GO:0007596)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|oligodendrocyte development (GO:0014003)|paranodal junction assembly (GO:0030913)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|response to water deprivation (GO:0009414)|single fertilization (GO:0007338)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|vesicle (GO:0031982)				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						GTTAGCCCTCACCATGCCGGT	0.627																																						dbGAP											0													89.0	80.0	83.0					12																	6309663		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			M38690	CCDS8540.1	12p13	2013-02-14	2006-03-28		ENSG00000010278	ENSG00000010278		"""CD molecules"", ""Tetraspanins"""	1709	protein-coding gene	gene with protein product	"""motility related protein-1"""	143030	"""CD9 antigen (p24)"""	MIC3		6198179	Standard	NM_001769		Approved	BA2, P24, TSPAN29, MRP-1	uc001qnq.2	P21926	OTTHUMG00000044400	ENST00000382518.1:c.-3A>G	12.37:g.6309663A>G			D3DUQ9|Q5J7W6|Q96ES4	RNA	SNP	-	NULL	ENST00000382518.1	37	NULL	CCDS8540.1	12																																																																																			CD9	-	-	ENSG00000010278		0.627	CD9-004	NOVEL	basic|appris_principal|CCDS	protein_coding	CD9	HGNC	protein_coding	OTTHUMT00000103348.1	120	0.00	0	A			6309663	6309663	+1	no_errors	ENST00000538834	ensembl	human	known	69_37n	rna	157	17.80	34	SNP	0.772	G
CDC42EP1	11135	genome.wustl.edu	37	22	37962744	37962744	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr22:37962744T>C	ENST00000249014.4	+	2	808	c.388T>C	c.(388-390)Tac>Cac	p.Y130H		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	130					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CCAGGCCGCCTACGACAGCCT	0.677																																						dbGAP											0													74.0	74.0	74.0					22																	37962744		2203	4300	6503	-	-	-	SO:0001583	missense	0			M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.388T>C	22.37:g.37962744T>C	ENSP00000249014:p.Tyr130His		A8K825|Q96GN1	Missense_Mutation	SNP	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd	p.Y130H	ENST00000249014.4	37	c.388	CCDS13949.1	22	.	.	.	.	.	.	.	.	.	.	T	13.87	2.365799	0.41902	.	.	ENSG00000128283	ENST00000249014	T	0.28895	1.59	5.56	5.56	0.83823	.	0.690718	0.12614	N	0.453618	T	0.49304	0.1549	M	0.62723	1.935	0.33947	D	0.643986	D	0.67145	0.996	P	0.62491	0.903	T	0.52503	-0.8567	10	0.21014	T	0.42	-19.8417	14.2929	0.66292	0.0:0.0:0.0:1.0	.	130	Q00587	BORG5_HUMAN	H	130	ENSP00000249014:Y130H	ENSP00000249014:Y130H	Y	+	1	0	CDC42EP1	36292690	0.048000	0.20356	1.000000	0.80357	0.959000	0.62525	0.860000	0.27871	2.109000	0.64355	0.533000	0.62120	TAC	CDC42EP1	-	NULL	ENSG00000128283		0.677	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP1	HGNC	protein_coding	OTTHUMT00000318993.1	187	0.53	1	T	NM_152243		37962744	37962744	+1	no_errors	ENST00000249014	ensembl	human	known	69_37n	missense	222	10.84	27	SNP	1.000	C
CDH1	999	genome.wustl.edu	37	16	68867203	68867203	+	Missense_Mutation	SNP	C	C	T	rs587782024		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:68867203C>T	ENST00000261769.5	+	16	2641	c.2450C>T	c.(2449-2451)gCg>gTg	p.A817V	CDH1_ENST00000422392.2_Missense_Mutation_p.A756V|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	817	Required for binding alpha, beta and gamma catenins.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AATCTGAAAGCGGCTGATACT	0.488			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	0													74.0	76.0	75.0					16																	68867203		2198	4300	6498	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.2450C>T	16.37:g.68867203C>T	ENSP00000261769:p.Ala817Val		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A817V	ENST00000261769.5	37	c.2450	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077772	0.76528	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000422392	T;T	0.77229	-1.08;-1.08	6.04	6.04	0.98038	Cadherin, cytoplasmic domain (1);	0.000000	0.50627	D	0.000109	D	0.87569	0.6210	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.988;1.0	D	0.86732	0.1949	10	0.59425	D	0.04	.	20.1899	0.98228	0.0:1.0:0.0:0.0	.	756;817	Q9UII8;P12830	.;CADH1_HUMAN	V	817;835;756	ENSP00000261769:A817V;ENSP00000414946:A756V	ENSP00000261769:A817V	A	+	2	0	CDH1	67424704	1.000000	0.71417	0.986000	0.45419	0.059000	0.15707	7.770000	0.85390	2.873000	0.98535	0.563000	0.77884	GCG	CDH1	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000039068		0.488	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	92	0.00	0	C	NM_004360		68867203	68867203	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	missense	56	17.65	12	SNP	1.000	T
C10orf105	414152	genome.wustl.edu	37	10	73485220	73485220	+	Intron	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:73485220C>T	ENST00000398786.2	-	2	97				CDH23_ENST00000224721.6_Silent_p.H1179H	NM_001168390.1	NP_001161862.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											ACTCATCCCACGTGCTGATAG	0.657																																						dbGAP											0													50.0	54.0	53.0					10																	73485220		2002	4167	6169	-	-	-	SO:0001627	intron_variant	0			AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000398786.2:c.5-9121G>A	10.37:g.73485220C>T				Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.H1177	ENST00000398786.2	37	c.3531	CCDS44430.1	10																																																																																			CDH23	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000107736		0.657	C10orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000048551.2	101	0.00	0	C	NM_001164375		73485220	73485220	+1	no_errors	ENST00000224721	ensembl	human	known	69_37n	silent	120	11.11	15	SNP	0.977	T
CDHR2	54825	genome.wustl.edu	37	5	176004543	176004543	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:176004543G>A	ENST00000510636.1	+	13	1612	c.1338G>A	c.(1336-1338)gcG>gcA	p.A446A	CDHR2_ENST00000261944.5_Silent_p.A446A|CDHR2_ENST00000506348.1_Silent_p.A446A	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	446	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGCAGACGGCGATGGCGGTGC	0.692																																						dbGAP											0													35.0	38.0	37.0					5																	176004543		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1338G>A	5.37:g.176004543G>A			A1L3U4|A6NC80|Q9NXP8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A446	ENST00000510636.1	37	c.1338	CCDS34297.1	5																																																																																			CDHR2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000074276		0.692	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR2	HGNC	protein_coding	OTTHUMT00000372201.1	117	0.00	0	G	NM_017675		176004543	176004543	+1	no_errors	ENST00000261944	ensembl	human	known	69_37n	silent	163	11.89	22	SNP	0.213	A
CDON	50937	genome.wustl.edu	37	11	125875884	125875884	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:125875884T>G	ENST00000392693.3	-	9	1748	c.1621A>C	c.(1621-1623)Agt>Cgt	p.S541R	CDON_ENST00000263577.7_Missense_Mutation_p.S541R|CDON_ENST00000531738.1_5'Flank	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	541					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TCTCTCTTACTTCTGTCATCA	0.478																																						dbGAP											0													91.0	78.0	82.0					11																	125875884		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.1621A>C	11.37:g.125875884T>G	ENSP00000376458:p.Ser541Arg		O14631	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S541R	ENST00000392693.3	37	c.1621	CCDS58192.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.039|2.039	-0.420618|-0.420618	0.04734|0.04734	.|.	.|.	ENSG00000064309|ENSG00000064309	ENST00000534661|ENST00000392693;ENST00000263577	.|T;T	.|0.68765	.|-0.33;-0.35	4.59|4.59	-1.37|-1.37	0.09056|0.09056	.|.	.|1.341710	.|0.04990	.|N	.|0.467103	T|T	0.35566|0.35566	0.0936|0.0936	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.17961|0.17961	-1.0352|-1.0352	5|10	.|0.11182	.|T	.|0.66	-0.3882|-0.3882	2.7198|2.7198	0.05197|0.05197	0.1052:0.3621:0.3015:0.2312|0.1052:0.3621:0.3015:0.2312	.|.	.|541;541	.|Q4KMG0;Q4KMG0-2	.|CDON_HUMAN;.	T|R	516|541	.|ENSP00000376458:S541R;ENSP00000263577:S541R	.|ENSP00000263577:S541R	K|S	-|-	2|1	0|0	CDON|CDON	125381094|125381094	0.003000|0.003000	0.15002|0.15002	0.001000|0.001000	0.08648|0.08648	0.007000|0.007000	0.05969|0.05969	0.610000|0.610000	0.24253|0.24253	0.021000|0.021000	0.15133|0.15133	-1.276000|-1.276000	0.01395|0.01395	AAG|AGT	CDON	-	NULL	ENSG00000064309		0.478	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDON	HGNC	protein_coding	OTTHUMT00000386749.2	78	0.00	0	T	NM_016952		125875884	125875884	-1	no_errors	ENST00000392693	ensembl	human	known	69_37n	missense	10	23.08	3	SNP	0.000	G
CEBPE	1053	genome.wustl.edu	37	14	23586796	23586796	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:23586796C>T	ENST00000206513.5	-	2	1270	c.746G>A	c.(745-747)cGc>cAc	p.R249H		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	249	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		CTGCTCCACGCGGCTGCGGAG	0.637																																					NSCLC(63;1230 1818 14565 22565)	dbGAP											0													66.0	53.0	57.0					14																	23586796		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"""basic leucine zipper proteins"""	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.746G>A	14.37:g.23586796C>T	ENSP00000206513:p.Arg249His		Q15745|Q8IYI2|Q99803	Missense_Mutation	SNP	pfam_bZIP_2,pfam_bZIP_1,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP	p.R249H	ENST00000206513.5	37	c.746	CCDS9589.1	14	.	.	.	.	.	.	.	.	.	.	C	30	5.056567	0.93793	.	.	ENSG00000092067	ENST00000206513	T	0.45276	0.9	5.55	5.55	0.83447	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.85682	D	0.000000	T	0.65585	0.2705	M	0.72479	2.2	0.51012	D	0.999902	D	0.89917	1.0	D	0.81914	0.995	T	0.68078	-0.5504	10	0.87932	D	0	-25.1343	18.2725	0.90072	0.0:1.0:0.0:0.0	.	249	Q15744	CEBPE_HUMAN	H	249	ENSP00000206513:R249H	ENSP00000206513:R249H	R	-	2	0	CEBPE	22656636	0.008000	0.16893	1.000000	0.80357	0.996000	0.88848	1.648000	0.37271	2.614000	0.88457	0.655000	0.94253	CGC	CEBPE	-	pfam_bZIP_2,pfam_bZIP_1,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP	ENSG00000092067		0.637	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPE	HGNC	protein_coding	OTTHUMT00000071716.2	118	0.00	0	C	NM_001805		23586796	23586796	-1	no_errors	ENST00000206513	ensembl	human	known	69_37n	missense	152	15.93	29	SNP	1.000	T
CELSR3	1951	genome.wustl.edu	37	3	48685787	48685787	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:48685787C>T	ENST00000164024.4	-	19	7165	c.6885G>A	c.(6883-6885)gtG>gtA	p.V2295V	CELSR3_ENST00000544264.1_Silent_p.V2300V	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2295					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCAGGTGCCTCACCAGTCCCG	0.647																																						dbGAP											0													43.0	41.0	42.0					3																	48685787		2198	4297	6495	-	-	-	SO:0001819	synonymous_variant	0			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.6885G>A	3.37:g.48685787C>T			O75092	Silent	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.V2300	ENST00000164024.4	37	c.6900	CCDS2775.1	3																																																																																			CELSR3	-	pfam_DUF3497	ENSG00000008300		0.647	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	35	0.00	0	C	NM_001407		48685787	48685787	-1	no_errors	ENST00000544264	ensembl	human	known	69_37n	silent	47	36.49	27	SNP	0.998	T
CEP250	11190	genome.wustl.edu	37	20	34053953	34053953	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:34053953A>G	ENST00000397527.1	+	7	1136	c.416A>G	c.(415-417)gAa>gGa	p.E139G	CEP250_ENST00000397524.1_Missense_Mutation_p.E139G|CEP250_ENST00000342580.4_Missense_Mutation_p.E139G	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	139					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAAGATGTGGAAAAACTGACA	0.552																																						dbGAP											0													53.0	46.0	48.0					20																	34053953		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.416A>G	20.37:g.34053953A>G	ENSP00000380661:p.Glu139Gly		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	superfamily_Prefoldin	p.E139G	ENST00000397527.1	37	c.416	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	A	12.63	1.996930	0.35226	.	.	ENSG00000126001	ENST00000446710;ENST00000397527;ENST00000342580;ENST00000397524;ENST00000425934	T;T;T;T	0.45668	2.92;2.9;0.89;1.89	5.54	4.42	0.53409	.	0.129233	0.35151	N	0.003404	T	0.26268	0.0641	L	0.34521	1.04	0.36748	D	0.882612	B	0.15930	0.015	B	0.14023	0.01	T	0.22941	-1.0202	10	0.26408	T	0.33	.	3.6763	0.08292	0.7601:0.0:0.2399:0.0	.	139	Q9BV73	CP250_HUMAN	G	139	ENSP00000380661:E139G;ENSP00000341541:E139G;ENSP00000380658:E139G;ENSP00000413827:E139G	ENSP00000341541:E139G	E	+	2	0	CEP250	33517367	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.650000	0.61440	2.088000	0.63022	0.533000	0.62120	GAA	CEP250	-	NULL	ENSG00000126001		0.552	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	103	0.96	1	A	NM_007186		34053953	34053953	+1	no_errors	ENST00000397527	ensembl	human	known	69_37n	missense	50	12.28	7	SNP	1.000	G
CEP290	80184	genome.wustl.edu	37	12	88510829	88510829	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:88510829A>G	ENST00000552810.1	-	18	2148	c.1805T>C	c.(1804-1806)aTg>aCg	p.M602T	CEP290_ENST00000309041.7_Missense_Mutation_p.M604T|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	602					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TGCTTCACTCATATTTTTGAG	0.313																																						dbGAP											0													72.0	67.0	68.0					12																	88510829		1794	4053	5847	-	-	-	SO:0001583	missense	0			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1805T>C	12.37:g.88510829A>G	ENSP00000448012:p.Met602Thr		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	NULL	p.M604T	ENST00000552810.1	37	c.1811	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	A	9.334	1.061310	0.19987	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	T;T	0.76839	-1.05;-1.05	4.17	4.17	0.49024	.	0.433634	0.21739	N	0.069847	T	0.59542	0.2201	N	0.14661	0.345	0.80722	D	1	B;B	0.16603	0.018;0.008	B;B	0.12837	0.008;0.008	T	0.54227	-0.8325	10	0.14252	T	0.57	.	12.2094	0.54371	1.0:0.0:0.0:0.0	.	602;602	Q05BJ6;O15078	.;CE290_HUMAN	T	602;604;602;504	ENSP00000448012:M602T;ENSP00000308021:M604T	ENSP00000308021:M604T	M	-	2	0	CEP290	87034960	0.550000	0.26489	0.996000	0.52242	0.989000	0.77384	2.066000	0.41452	1.890000	0.54733	0.482000	0.46254	ATG	CEP290	-	NULL	ENSG00000198707		0.313	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1	106	0.00	0	A	NM_025114		88510829	88510829	-1	no_errors	ENST00000309041	ensembl	human	known	69_37n	missense	148	11.38	19	SNP	0.822	G
CEP57	9702	genome.wustl.edu	37	11	95562350	95562351	+	Splice_Site	INS	-	-	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:95562350_95562351insC	ENST00000325542.5	+	10	1365_1366		c.e10-1		CEP57_ENST00000537677.1_Splice_Site|CEP57_ENST00000541150.1_Splice_Site|CEP57_ENST00000325486.5_Splice_Site	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa						fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTTGTATATAGTGATCACCAGC	0.401									Mosaic Variegated Aneuploidy Syndrome																													dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.1128-1->C	11.37:g.95562350_95562351insC			A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Frame_Shift_Ins	INS	pfam_Cep57_MT-bd_dom	p.D378fs	ENST00000325542.5	37	c.1129_1128	CCDS8304.1	11																																																																																			CEP57	-	pfam_Cep57_MT-bd_dom	ENSG00000166037		0.401	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP57	HGNC	protein_coding	OTTHUMT00000395983.1	77	0.00	0	-	NM_014679	Intron	95562350	95562351	+1	no_errors	ENST00000325542	ensembl	human	known	69_37n	frame_shift_ins	22	15.38	4	INS	1.000:1.000	C
CFHR1	3078	genome.wustl.edu	37	1	196799650	196799650	+	Missense_Mutation	SNP	C	C	T	rs201237536		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:196799650C>T	ENST00000320493.5	+	5	716	c.628C>T	c.(628-630)Ccc>Tcc	p.P210S	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Missense_Mutation_p.P151S	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	210	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						AAAATGTGGGCCCCCTCCACC	0.383																																						dbGAP											0													97.0	113.0	108.0					1																	196799650		1883	4132	6015	-	-	-	SO:0001583	missense	0			M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"""Complement system"""	4888	protein-coding gene	gene with protein product		134371	"""H factor (complement)-like 1"", ""complement factor H-related 1 pseudogene"", ""H factor (complement)-like 2"""	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.628C>T	1.37:g.196799650C>T	ENSP00000314299:p.Pro210Ser		A8K465|Q3B774|Q9UJ17	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.P210S	ENST00000320493.5	37	c.628	CCDS1386.1	1	.	.	.	.	.	.	.	.	.	.	.	7.428	0.638177	0.14386	.	.	ENSG00000244414	ENST00000367424;ENST00000320493	T;T	0.65178	-0.14;-0.14	4.03	0.775	0.18527	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.70762	0.3261	M	0.64404	1.975	0.18873	N	0.999989	D;P	0.89917	1.0;0.738	D;P	0.91635	0.999;0.457	T	0.57300	-0.7835	9	0.54805	T	0.06	.	4.6607	0.12641	0.3766:0.5126:0.0:0.1108	.	210;1111	Q03591;A8K5T0	FHR1_HUMAN;.	S	151;210	ENSP00000356394:P151S;ENSP00000314299:P210S	ENSP00000314299:P210S	P	+	1	0	CFHR1	195066273	0.000000	0.05858	0.056000	0.19401	0.108000	0.19459	-0.315000	0.08081	-0.177000	0.10690	0.406000	0.27484	CCC	CFHR1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000244414		0.383	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR1	HGNC	protein_coding	OTTHUMT00000088251.2	298	0.00	0	C	NM_002113		196799650	196799650	+1	no_errors	ENST00000320493	ensembl	human	known	69_37n	missense	288	10.56	34	SNP	0.317	T
CFHR5	81494	genome.wustl.edu	37	1	196971781	196971781	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:196971781A>G	ENST00000256785.4	+	8	1426	c.1317A>G	c.(1315-1317)ttA>ttG	p.L439L	CFHR5_ENST00000367414.5_Silent_p.L463L			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	439	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GGCAATCATTACCACGCTGTG	0.323																																						dbGAP											0													79.0	83.0	82.0					1																	196971781		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1317A>G	1.37:g.196971781A>G			Q2NKK2	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.L463	ENST00000256785.4	37	c.1389	CCDS1387.1	1																																																																																			CFHR5	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000134389		0.323	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR5	HGNC	protein_coding	OTTHUMT00000088814.2	105	0.00	0	A	NM_030787		196971781	196971781	+1	no_errors	ENST00000367414	ensembl	human	known	69_37n	silent	38	24.00	12	SNP	0.187	G
CHCHD10	400916	genome.wustl.edu	37	22	24108417	24108417	+	Missense_Mutation	SNP	C	C	T	rs562212051		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr22:24108417C>T	ENST00000484558.2	-	3	875	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	CHCHD10_ENST00000520222.1_Silent_p.A29A|CHCHD10_ENST00000401675.3_Missense_Mutation_p.A110T			Q8WYQ3	CHC10_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 10	103	CHCH.				ATP biosynthetic process (GO:0006754)|negative regulation of ATP citrate synthase activity (GO:2000984)|oxidative phosphorylation (GO:0006119)	mitochondrion (GO:0005739)				large_intestine(2)|lung(1)	3						ATCTCGTAGGCGCAGGGCCCC	0.637																																						dbGAP											0													25.0	19.0	21.0					22																	24108417		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB050774	CCDS13815.1	22q11.23	2011-03-28	2008-06-13	2008-06-13	ENSG00000250479	ENSG00000250479		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	15559	protein-coding gene	gene with protein product		615903	"""chromosome 22 open reading frame 16"""	C22orf16			Standard	XM_006724241		Approved	N27C7-4	uc002zxw.3	Q8WYQ3	OTTHUMG00000150736	ENST00000484558.2:c.307G>A	22.37:g.24108417C>T	ENSP00000418428:p.Ala103Thr		A8K0J5	Missense_Mutation	SNP	pfam_CHCH	p.A103T	ENST00000484558.2	37	c.307	CCDS13815.1	22	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830307	0.32329	.	.	ENSG00000250479	ENST00000401675;ENST00000484558	T;T	0.76968	-1.06;-1.06	4.35	-0.953	0.10362	CHCH (1);	0.359297	0.26153	N	0.026036	T	0.68403	0.2997	M	0.73372	2.23	0.25626	N	0.986357	B	0.18166	0.026	B	0.19946	0.027	T	0.52601	-0.8554	10	0.15952	T	0.53	-9.1599	6.825	0.23878	0.3528:0.4395:0.2077:0.0	.	103	Q8WYQ3	CHC10_HUMAN	T	110;103	ENSP00000384973:A110T;ENSP00000418428:A103T	ENSP00000384973:A110T	A	-	1	0	CHCHD10	22438417	1.000000	0.71417	0.931000	0.37212	0.969000	0.65631	1.855000	0.39378	0.070000	0.16634	0.485000	0.47835	GCC	CHCHD10	-	pfam_CHCH	ENSG00000250479		0.637	CHCHD10-001	KNOWN	basic|exp_conf|CCDS	protein_coding	CHCHD10	HGNC	protein_coding	OTTHUMT00000319870.2	67	0.00	0	C	NM_213720		24108417	24108417	-1	no_errors	ENST00000484558	ensembl	human	known	69_37n	missense	71	20.00	18	SNP	0.917	T
CHD2	1106	genome.wustl.edu	37	15	93482825	93482825	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:93482825G>A	ENST00000394196.4	+	7	1637	c.569G>A	c.(568-570)cGt>cAt	p.R190H	CHD2_ENST00000536619.1_Missense_Mutation_p.R203H|CHD2_ENST00000420239.2_Missense_Mutation_p.R190H|CHD2_ENST00000557381.1_Missense_Mutation_p.R190H	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	190					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCCAAACCTCGTGTTAAAAAG	0.408																																						dbGAP											0													116.0	118.0	118.0					15																	93482825		2197	4298	6495	-	-	-	SO:0001583	missense	0			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.569G>A	15.37:g.93482825G>A	ENSP00000377747:p.Arg190His		C6G482|Q96IP5	Missense_Mutation	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.R190H	ENST00000394196.4	37	c.569	CCDS10374.2	15	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692812	0.48202	.	.	ENSG00000173575	ENST00000394196;ENST00000557381;ENST00000420239;ENST00000536619	D;D;T;T	0.90197	-2.63;-2.63;0.78;0.77	5.11	3.17	0.36434	.	0.219154	0.21718	U	0.070180	T	0.74283	0.3696	N	0.08118	0	0.23180	N	0.998166	P;B;P;B	0.48764	0.915;0.199;0.608;0.307	B;B;B;B	0.35182	0.197;0.026;0.058;0.029	T	0.68550	-0.5379	10	0.45353	T	0.12	-19.1194	5.4442	0.16524	0.0802:0.1419:0.6313:0.1466	.	203;190;190;190	B7Z3I4;O14647;O14647-2;Q6AI05	.;CHD2_HUMAN;.;.	H	190;190;190;203	ENSP00000377747:R190H;ENSP00000451366:R190H;ENSP00000406581:R190H;ENSP00000443618:R203H	ENSP00000377747:R190H	R	+	2	0	CHD2	91283829	0.513000	0.26194	0.999000	0.59377	0.994000	0.84299	1.930000	0.40124	0.691000	0.31592	0.563000	0.77884	CGT	CHD2	-	NULL	ENSG00000173575		0.408	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3	105	0.00	0	G	NM_001271		93482825	93482825	+1	no_errors	ENST00000420239	ensembl	human	known	69_37n	missense	44	10.20	5	SNP	0.998	A
CHD3	1107	genome.wustl.edu	37	17	7788214	7788214	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:7788214G>C	ENST00000380358.4	+	1	91	c.90G>C	c.(88-90)gaG>gaC	p.E30D	LSMD1_ENST00000570555.1_Intron|LSMD1_ENST00000576861.1_Intron	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	0					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				agggcgacgaggaggaggagg	0.682																																						dbGAP											0													17.0	12.0	14.0					17																	7788214		2064	4071	6135	-	-	-	SO:0001583	missense	0			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000380358.4:c.90G>C	17.37:g.7788214G>C	ENSP00000369716:p.Glu30Asp		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E30D	ENST00000380358.4	37	c.90	CCDS32553.2	17	.	.	.	.	.	.	.	.	.	.	g	12.79	2.044260	0.36085	.	.	ENSG00000170004	ENST00000380358	D	0.89617	-2.54	1.47	1.47	0.22746	.	.	.	.	.	T	0.78666	0.4319	N	0.08118	0	0.80722	D	1	P	0.46912	0.886	P	0.45506	0.483	T	0.77324	-0.2630	9	0.87932	D	0	.	8.4001	0.32581	0.0:0.0:1.0:0.0	.	30	E9PG89	.	D	30	ENSP00000369716:E30D	ENSP00000369716:E30D	E	+	3	2	CHD3	7728939	0.992000	0.36948	0.992000	0.48379	0.324000	0.28378	0.199000	0.17237	0.729000	0.32403	0.403000	0.27427	GAG	CHD3	-	NULL	ENSG00000170004		0.682	CHD3-003	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318052.1	23	0.00	0	G	NM_001005273		7788214	7788214	+1	no_errors	ENST00000380358	ensembl	human	novel	69_37n	missense	40	16.67	8	SNP	0.987	C
CHMP3	51652	genome.wustl.edu	37	2	86737678	86737679	+	Intron	INS	-	-	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:86737678_86737679insA	ENST00000263856.4	-	4	415				CHMP3_ENST00000409727.1_Intron|CHMP3_ENST00000409225.2_Intron|CHMP3_ENST00000494623.1_5'UTR|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1	Q9Y3E7	CHMP3_HUMAN	charged multivesicular body protein 3						apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)											TGAGCCATTCCAATAAATGACA	0.416																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF219226	CCDS33236.1, CCDS42707.1, CCDS54375.1	2p11.2	2011-09-21	2011-09-21	2011-09-21	ENSG00000115561	ENSG00000115561		"""Charged multivesicular body proteins"""	29865	protein-coding gene	gene with protein product		610052	"""vacuolar protein sorting 24 (yeast)"", ""vacuolar protein sorting 24 homolog (S. cerevisiae)"""	VPS24		11549700, 12878588	Standard	NM_016079		Approved	NEDF, CGI-149		Q9Y3E7	OTTHUMG00000153189	ENST00000263856.4:c.287-76->T	2.37:g.86737680_86737680dupA			A8K3W0|B4DG34|B8ZZM0|B8ZZX5|Q3ZTS9|Q53S71|Q53SU5|Q9NZ51	RNA	INS	-	NULL	ENST00000263856.4	37	NULL	CCDS33236.1	2																																																																																			CHMP3	-	-	ENSG00000115561		0.416	CHMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP3	HGNC	protein_coding	OTTHUMT00000330015.2	55	0.00	0	-	NM_016079		86737678	86737679	-1	no_errors	ENST00000494623	ensembl	human	known	69_37n	rna	11	15.38	2	INS	0.079:0.082	A
CHRNB2	1141	genome.wustl.edu	37	1	154543683	154543683	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:154543683G>T	ENST00000368476.3	+	5	648	c.384G>T	c.(382-384)gaG>gaT	p.E128D		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	128					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	GCATGTACGAGGTGTCCTTCT	0.547																																						dbGAP											0													144.0	132.0	136.0					1																	154543683		2203	4300	6503	-	-	-	SO:0001583	missense	0			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.384G>T	1.37:g.154543683G>T	ENSP00000357461:p.Glu128Asp		Q9UEH9	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.E128D	ENST00000368476.3	37	c.384	CCDS1070.1	1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911449	0.52439	.	.	ENSG00000160716	ENST00000368476	T	0.77229	-1.08	4.25	1.0	0.19881	Neurotransmitter-gated ion-channel ligand-binding (3);	0.119854	0.53938	D	0.000043	T	0.62612	0.2442	N	0.11284	0.12	0.48830	D	0.999713	D	0.64830	0.994	D	0.85130	0.997	T	0.63111	-0.6710	10	0.31617	T	0.26	.	9.5348	0.39216	0.2973:0.0:0.7027:0.0	.	128	P17787	ACHB2_HUMAN	D	128	ENSP00000357461:E128D	ENSP00000357461:E128D	E	+	3	2	CHRNB2	152810307	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	1.716000	0.37981	0.395000	0.25257	0.551000	0.68910	GAG	CHRNB2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel	ENSG00000160716		0.547	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB2	HGNC	protein_coding	OTTHUMT00000090697.1	145	0.00	0	G	NM_000748		154543683	154543683	+1	no_errors	ENST00000368476	ensembl	human	known	69_37n	missense	248	14.19	41	SNP	1.000	T
CHST9	83539	genome.wustl.edu	37	18	24497255	24497256	+	In_Frame_Ins	INS	-	-	TGG			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr18:24497255_24497256insTGG	ENST00000284224.8	-	6	576_577	c.299_300insCCA	c.(298-300)aat>aaCCAt	p.100_101insH	CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000581714.1_In_Frame_Ins_p.100_101insH|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	100					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					ATCTCTCAGAATTGAGTAGAAG	0.406																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.299_300insCCA	18.37:g.24497255_24497256insTGG	ENSP00000284224:p.Asn100_Ser101insHis		Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	In_Frame_Ins	INS	pfam_Sulfotransferase	p.101in_frame_insH	ENST00000284224.8	37	c.300_299	CCDS42422.1	18																																																																																			CHST9	-	NULL	ENSG00000154080		0.406	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST9	HGNC	protein_coding	OTTHUMT00000446549.1	202	0.00	0	-	NM_031422		24497255	24497256	-1	no_errors	ENST00000284224	ensembl	human	known	69_37n	in_frame_ins	36	10.00	4	INS	0.000:0.000	TGG
CIAPIN1	57019	genome.wustl.edu	37	16	57463180	57463180	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:57463180C>T	ENST00000569979.1	-	6	689	c.643G>A	c.(643-645)Gat>Aat	p.D215N	CIAPIN1_ENST00000565961.1_Missense_Mutation_p.R215Q|CIAPIN1_ENST00000569370.1_Missense_Mutation_p.R242Q|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.D268N|CIAPIN1_ENST00000568940.1_Missense_Mutation_p.R242Q|CIAPIN1_ENST00000569246.1_5'Flank|CIAPIN1_ENST00000394391.4_Missense_Mutation_p.D281N					cytokine induced apoptosis inhibitor 1											cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CGGAAGGCATCGCCCAGGTAG	0.527																																						dbGAP											0													51.0	52.0	52.0					16																	57463180		2013	4174	6187	-	-	-	SO:0001583	missense	0			AF248964	CCDS10781.2	16q21	2012-09-20			ENSG00000005194	ENSG00000005194			28050	protein-coding gene	gene with protein product		608943				10493829, 11230166	Standard	XM_005256061		Approved	Anamorsin	uc002ell.1	Q6FI81	OTTHUMG00000133457	ENST00000569979.1:c.643G>A	16.37:g.57463180C>T	ENSP00000458000:p.Asp215Asn			Missense_Mutation	SNP	pfam_CIAPIN1	p.D281N	ENST00000569979.1	37	c.841		16	.	.	.	.	.	.	.	.	.	.	C	35	5.421168	0.96111	.	.	ENSG00000005194	ENST00000394391	T	0.69685	-0.42	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.87160	0.6108	H	0.95539	3.685	0.45979	D	0.998791	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91079	0.4898	10	0.66056	D	0.02	-19.3439	17.0668	0.86561	0.0:1.0:0.0:0.0	.	268;281	Q6FI81-3;Q6FI81	.;CPIN1_HUMAN	N	281	ENSP00000377914:D281N	ENSP00000377914:D281N	D	-	1	0	CIAPIN1	56020681	1.000000	0.71417	0.942000	0.38095	0.991000	0.79684	7.141000	0.77330	2.347000	0.79759	0.561000	0.74099	GAT	CIAPIN1	-	pfam_CIAPIN1	ENSG00000005194		0.527	CIAPIN1-010	NOVEL	basic|exp_conf	protein_coding	CIAPIN1	HGNC	protein_coding	OTTHUMT00000432580.1	232	0.00	0	C	NM_020313		57463180	57463180	-1	no_errors	ENST00000394391	ensembl	human	known	69_37n	missense	123	11.51	16	SNP	1.000	T
CLASP1	23332	genome.wustl.edu	37	2	122273282	122273282	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:122273282A>G	ENST00000263710.4	-	7	992	c.603T>C	c.(601-603)cgT>cgC	p.R201R	CLASP1_ENST00000541377.1_Silent_p.R201R|CLASP1_ENST00000409078.3_Silent_p.R201R|CLASP1_ENST00000455322.2_Silent_p.R201R|CLASP1_ENST00000397587.3_Silent_p.R201R	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	201					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTGCCCTCACACGTTCTCCTA	0.458																																						dbGAP											0													136.0	126.0	129.0					2																	122273282		1917	4118	6035	-	-	-	SO:0001819	synonymous_variant	0			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.603T>C	2.37:g.122273282A>G			B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Silent	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.R201	ENST00000263710.4	37	c.603		2																																																																																			CLASP1	-	pfam_CLASP_N_dom,superfamily_ARM-type_fold,pfscan_HEAT_type_2	ENSG00000074054		0.458	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		227	0.00	0	A	NM_015282		122273282	122273282	-1	no_errors	ENST00000263710	ensembl	human	known	69_37n	silent	114	10.00	13	SNP	0.973	G
CLCN6	1185	genome.wustl.edu	37	1	11889363	11889363	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:11889363A>G	ENST00000346436.6	+	13	1284	c.1232A>G	c.(1231-1233)gAc>gGc	p.D411G	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Missense_Mutation_p.D389G|CLCN6_ENST00000376496.3_Missense_Mutation_p.D411G	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	411					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ATCGGTAATGACTCATTCCAG	0.493																																						dbGAP											0													198.0	180.0	186.0					1																	11889363		2203	4300	6503	-	-	-	SO:0001583	missense	0			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1232A>G	1.37:g.11889363A>G	ENSP00000234488:p.Asp411Gly		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6	p.D411G	ENST00000346436.6	37	c.1232	CCDS138.1	1	.	.	.	.	.	.	.	.	.	.	A	6.734	0.504151	0.12822	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.91740	-2.89;-2.89;-2.9	5.83	2.27	0.28462	Chloride channel, core (1);	1.208050	0.05656	N	0.586067	T	0.79610	0.4475	N	0.02334	-0.595	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.65348	-0.6190	10	0.22706	T	0.39	-28.5266	6.4378	0.21833	0.6229:0.0:0.3771:0.0	.	389;411	F8W9R3;P51797	.;CLCN6_HUMAN	G	411;389;411	ENSP00000234488:D411G;ENSP00000365670:D389G;ENSP00000365679:D411G	ENSP00000234488:D411G	D	+	2	0	CLCN6	11811950	1.000000	0.71417	0.989000	0.46669	0.193000	0.23685	0.662000	0.25038	0.460000	0.27045	0.533000	0.62120	GAC	CLCN6	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core	ENSG00000011021		0.493	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN6	HGNC	protein_coding	OTTHUMT00000006639.2	341	0.29	1	A	NM_001286		11889363	11889363	+1	no_errors	ENST00000346436	ensembl	human	known	69_37n	missense	353	14.49	60	SNP	1.000	G
CLIP2	7461	genome.wustl.edu	37	7	73790656	73790656	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:73790656A>G	ENST00000395060.1	+	9	1925	c.1925A>G	c.(1924-1926)cAg>cGg	p.Q642R	CLIP2_ENST00000223398.6_Missense_Mutation_p.Q642R|CLIP2_ENST00000361545.5_Missense_Mutation_p.Q607R			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	642						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CCAGGCGCCCAGCAGAAGGAG	0.602																																						dbGAP											0													52.0	52.0	52.0					7																	73790656		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.1925A>G	7.37:g.73790656A>G	ENSP00000378500:p.Gln642Arg		O14527|O43611	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain	p.Q642R	ENST00000395060.1	37	c.1925	CCDS5569.1	7	.	.	.	.	.	.	.	.	.	.	A	17.07	3.294548	0.60086	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.61859	0.07;0.11;0.07	5.26	4.03	0.46877	.	0.329365	0.33005	N	0.005395	T	0.54565	0.1866	L	0.40543	1.245	0.35483	D	0.798351	D;D;D	0.59357	0.985;0.983;0.971	P;P;P	0.53006	0.715;0.592;0.574	T	0.58482	-0.7629	10	0.17832	T	0.49	-40.9062	10.8663	0.46858	0.8423:0.1577:0.0:0.0	.	607;607;642	A7E2F7;Q9UDT6-2;Q9UDT6	.;.;CLIP2_HUMAN	R	642;642;607;642	ENSP00000223398:Q642R;ENSP00000355151:Q607R;ENSP00000378500:Q642R	ENSP00000223398:Q642R	Q	+	2	0	CLIP2	73428592	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.413000	0.59795	1.995000	0.58328	0.374000	0.22700	CAG	CLIP2	-	superfamily_t-SNARE	ENSG00000106665		0.602	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	HGNC	protein_coding	OTTHUMT00000252556.1	30	0.00	0	A	NM_003388		73790656	73790656	+1	no_errors	ENST00000223398	ensembl	human	known	69_37n	missense	65	20.73	17	SNP	1.000	G
CLSTN3	9746	genome.wustl.edu	37	12	7286327	7286327	+	Missense_Mutation	SNP	G	G	A	rs149627692		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:7286327G>A	ENST00000266546.6	+	3	796	c.346G>A	c.(346-348)Gag>Aag	p.E116K	RP11-273B20.1_ENST00000538062.1_RNA|CLSTN3_ENST00000537408.1_Missense_Mutation_p.E128K	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	116	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGACTGTGGCGAGGGCCCCGA	0.627																																						dbGAP											0													52.0	46.0	48.0					12																	7286327		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.346G>A	12.37:g.7286327G>A	ENSP00000266546:p.Glu116Lys		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E116K	ENST00000266546.6	37	c.346	CCDS8575.1	12	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318262	0.40996	.	.	ENSG00000139182	ENST00000541953;ENST00000266546;ENST00000545663;ENST00000535452;ENST00000534830;ENST00000539982;ENST00000537408	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.07	4.16	0.48862	Cadherin (4);Cadherin-like (1);	0.127004	0.56097	D	0.000026	T	0.44414	0.1292	N	0.11313	0.125	0.80722	D	1	D;B	0.76494	0.999;0.104	D;B	0.71184	0.972;0.053	T	0.26710	-1.0095	10	0.07813	T	0.8	-23.7989	14.6003	0.68435	0.0:0.0:0.8529:0.1471	.	128;116	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	K	116;116;79;79;79;99;128	ENSP00000443959:E116K;ENSP00000266546:E116K;ENSP00000442612:E79K;ENSP00000443468:E79K;ENSP00000443490:E79K;ENSP00000442801:E99K;ENSP00000440679:E128K	ENSP00000266546:E116K	E	+	1	0	CLSTN3	7177594	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	1.081000	0.41110	0.561000	0.74099	GAG	CLSTN3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000139182		0.627	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN3	HGNC	protein_coding	OTTHUMT00000398560.2	45	0.00	0	G	NM_014718		7286327	7286327	+1	no_errors	ENST00000266546	ensembl	human	known	69_37n	missense	47	16.07	9	SNP	1.000	A
CNGB3	54714	genome.wustl.edu	37	8	87588288	87588289	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:87588288_87588289TC>AT	ENST00000320005.5	-	18	2220_2221	c.2173_2174GA>AT	c.(2173-2175)GAt>ATt	p.D725I		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	725			Missing (in ACHM3). {ECO:0000269|PubMed:15657609}.		cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						tttttgtttatcttcattttct	0.342																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.2173_2174delinsAT	8.37:g.87588288_87588289delinsAT	ENSP00000316605:p.Asp725Ile		C9JA51|Q9NRE9	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.D725V|p.D725N	ENST00000320005.5	37	c.2174|c.2173	CCDS6244.1	8																																																																																			CNGB3	-	NULL	ENSG00000170289		0.342	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	HGNC	protein_coding	OTTHUMT00000375107.1	133|128	0.00	0	T|C	NM_019098		87588288|87588289	87588288|87588289	-1	no_errors	ENST00000320005	ensembl	human	known	69_37n	missense	99|97	10.81|11.71	12|13	SNP	0.018|0.021	A|T
CNTN3	5067	genome.wustl.edu	37	3	74385798	74385799	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:74385798_74385799insT	ENST00000263665.6	-	11	1402_1403	c.1375_1376insA	c.(1375-1377)ttafs	p.L459fs		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	459	Ig-like C2-type 5.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TCCATCGTTTAACAAAGAAATT	0.327																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1375_1376insA	3.37:g.74385798_74385799insT	ENSP00000263665:p.Leu459fs		B9EK50|Q9H039	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L459fs	ENST00000263665.6	37	c.1376_1375	CCDS33790.1	3																																																																																			CNTN3	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000113805		0.327	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	83	0.00	0	-	NM_020872		74385798	74385799	-1	no_errors	ENST00000263665	ensembl	human	known	69_37n	frame_shift_ins	15	11.76	2	INS	0.048:0.002	T
CNTN5	53942	genome.wustl.edu	37	11	99827679	99827679	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:99827679A>G	ENST00000524871.1	+	8	1105	c.815A>G	c.(814-816)aAa>aGa	p.K272R	CNTN5_ENST00000528682.1_Missense_Mutation_p.K272R|CNTN5_ENST00000527185.1_Missense_Mutation_p.K272R|CNTN5_ENST00000279463.3_Missense_Mutation_p.K272R|CNTN5_ENST00000418526.2_Missense_Mutation_p.K198R	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	272	Ig-like C2-type 2.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGTCTGGTGAAAAACACAGTG	0.478																																						dbGAP											0													58.0	57.0	57.0					11																	99827679		1943	4128	6071	-	-	-	SO:0001583	missense	0			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.815A>G	11.37:g.99827679A>G	ENSP00000435637:p.Lys272Arg		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.K272R	ENST00000524871.1	37	c.815	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	A	18.51	3.640720	0.67244	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78	5.47	5.47	0.80525	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.050455	0.85682	D	0.000000	T	0.12902	0.0313	N	0.03016	-0.435	0.53688	D	0.999971	D;D;D	0.76494	0.999;0.998;0.999	D;P;D	0.65573	0.936;0.894;0.936	T	0.47156	-0.9139	10	0.62326	D	0.03	.	15.002	0.71479	1.0:0.0:0.0:0.0	.	272;198;272	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	R	272;272;272;198;272	ENSP00000433575:K272R;ENSP00000436185:K272R;ENSP00000435637:K272R;ENSP00000393229:K198R;ENSP00000279463:K272R	ENSP00000279463:K272R	K	+	2	0	CNTN5	99332889	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.649000	0.67936	2.188000	0.69820	0.477000	0.44152	AAA	CNTN5	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000149972		0.478	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	92	0.00	0	A	NM_014361		99827679	99827679	+1	no_errors	ENST00000279463	ensembl	human	known	69_37n	missense	7	36.36	4	SNP	1.000	G
CNTNAP4	85445	genome.wustl.edu	37	16	76495852	76495852	+	Splice_Site	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:76495852G>T	ENST00000476707.1	+	8	1481		c.e8-1		CNTNAP4_ENST00000307431.8_Splice_Site|CNTNAP4_ENST00000478060.1_Splice_Site|CNTNAP4_ENST00000469589.1_Splice_Site|CNTNAP4_ENST00000377504.4_Splice_Site			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4						cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CATCTCCCTAGGTGTCGAATT	0.438																																						dbGAP											0													147.0	131.0	137.0					16																	76495852		2198	4300	6498	-	-	-	SO:0001630	splice_region_variant	0			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1343-1G>T	16.37:g.76495852G>T			E9PFZ6|Q86YZ7	Splice_Site	SNP	-	e10-1	ENST00000476707.1	37	c.1331-1		16	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160729	0.57368	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0696	0.89402	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTNAP4	75053353	1.000000	0.71417	0.988000	0.46212	0.591000	0.36615	7.760000	0.85248	2.570000	0.86706	0.650000	0.86243	.	CNTNAP4	-	-	ENSG00000152910		0.438	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	HGNC	protein_coding	OTTHUMT00000348216.1	174	0.00	0	G	NM_033401	Intron	76495852	76495852	+1	no_errors	ENST00000307431	ensembl	human	known	69_37n	splice_site	44	10.20	5	SNP	1.000	T
COL14A1	7373	genome.wustl.edu	37	8	121238908	121238908	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:121238908C>T	ENST00000297848.3	+	16	2177	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	COL14A1_ENST00000309791.4_Missense_Mutation_p.T636M|COL14A1_ENST00000247781.3_Missense_Mutation_p.T541M|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATGAGGTGACGACAGACAGT	0.483																																						dbGAP											0													95.0	86.0	89.0					8																	121238908		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1907C>T	8.37:g.121238908C>T	ENSP00000297848:p.Thr636Met			Missense_Mutation	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.T636M	ENST00000297848.3	37	c.1907	CCDS34938.1	8	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568018	0.45798	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.63	3.62	0.41486	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.549752	0.18638	N	0.135373	T	0.61060	0.2317	M	0.82517	2.595	0.80722	D	1	B;B	0.22851	0.076;0.036	B;B	0.19946	0.027;0.015	T	0.59783	-0.7389	10	0.59425	D	0.04	.	12.8014	0.57588	0.4222:0.5778:0.0:0.0	.	636;636	Q05707-2;Q05707	.;COEA1_HUMAN	M	636;636;541;449	ENSP00000311809:T636M;ENSP00000297848:T636M;ENSP00000247781:T541M;ENSP00000409461:T449M	ENSP00000247781:T541M	T	+	2	0	COL14A1	121308089	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	1.518000	0.35877	0.512000	0.28257	0.557000	0.71058	ACG	COL14A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187955		0.483	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	273	0.00	0	C	NM_021110		121238908	121238908	+1	no_errors	ENST00000297848	ensembl	human	known	69_37n	missense	42	12.50	6	SNP	0.998	T
COL27A1	85301	genome.wustl.edu	37	9	117044775	117044775	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:117044775C>T	ENST00000356083.3	+	39	4201	c.3810C>T	c.(3808-3810)ggC>ggT	p.G1270G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1270	Collagen-like 11.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GTGAGATGGGCGTCCCTGGAG	0.662																																						dbGAP											0													46.0	41.0	43.0					9																	117044775		2195	4295	6490	-	-	-	SO:0001819	synonymous_variant	0			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3810C>T	9.37:g.117044775C>T			Q66K43|Q96JF7	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C	p.G1270	ENST00000356083.3	37	c.3810	CCDS6802.1	9																																																																																			COL27A1	-	pfam_Collagen	ENSG00000196739		0.662	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	118	0.00	0	C	NM_032888		117044775	117044775	+1	no_errors	ENST00000356083	ensembl	human	known	69_37n	silent	151	12.21	21	SNP	0.988	T
COL5A1	1289	genome.wustl.edu	37	9	137591925	137591925	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:137591925G>A	ENST00000371817.3	+	3	862	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	150	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCTGGCCCGGAAGACTACCC	0.627																																						dbGAP											0													43.0	50.0	48.0					9																	137591925		2203	4300	6503	-	-	-	SO:0001583	missense	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.448G>A	9.37:g.137591925G>A	ENSP00000360882:p.Glu150Lys		Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.E150K	ENST00000371817.3	37	c.448	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487291	0.84854	.	.	ENSG00000130635	ENST00000371817	T	0.02103	4.45	4.57	4.57	0.56435	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.64402	U	0.000001	T	0.12263	0.0298	M	0.70787	2.145	0.58432	D	0.999998	D	0.76494	0.999	D	0.81914	0.995	T	0.00880	-1.1529	10	0.72032	D	0.01	.	17.7214	0.88352	0.0:0.0:1.0:0.0	.	150	P20908	CO5A1_HUMAN	K	150	ENSP00000360882:E150K	ENSP00000360882:E150K	E	+	1	0	COL5A1	136731746	1.000000	0.71417	0.817000	0.32601	0.926000	0.56050	9.477000	0.97925	2.254000	0.74563	0.655000	0.94253	GAA	COL5A1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G	ENSG00000130635		0.627	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	53	0.00	0	G	NM_000093		137591925	137591925	+1	no_errors	ENST00000371817	ensembl	human	known	69_37n	missense	62	12.68	9	SNP	1.000	A
COL6A3	1293	genome.wustl.edu	37	2	238253712	238253712	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:238253712T>C	ENST00000295550.4	-	34	7603	c.7151A>G	c.(7150-7152)aAa>aGa	p.K2384R	COL6A3_ENST00000409809.1_Missense_Mutation_p.K2178R|COL6A3_ENST00000353578.4_Missense_Mutation_p.K2178R|COL6A3_ENST00000346358.4_Missense_Mutation_p.K2184R|COL6A3_ENST00000472056.1_Missense_Mutation_p.K1777R|COL6A3_ENST00000347401.3_Missense_Mutation_p.K2183R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2384	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCATTTATCTTTGATGCTTTG	0.358																																						dbGAP											0													103.0	98.0	100.0					2																	238253712		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7151A>G	2.37:g.238253712T>C	ENSP00000295550:p.Lys2384Arg		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.K2384R	ENST00000295550.4	37	c.7151	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	T	11.95	1.792869	0.31685	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4;-3.4;-3.4	5.31	3.0	0.34707	.	0.209931	0.32935	N	0.005466	T	0.79816	0.4511	N	0.05177	-0.1	0.37090	D	0.899414	B;B;B;P	0.44044	0.002;0.002;0.003;0.825	B;B;B;B	0.39617	0.002;0.002;0.002;0.305	T	0.79574	-0.1747	10	0.02654	T	1	.	7.7208	0.28731	0.0:0.1855:0.0:0.8145	.	1777;1777;2178;2384	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	R	2384;2183;2178;1777;2178;2184	ENSP00000295550:K2384R;ENSP00000315609:K2183R;ENSP00000315873:K2178R;ENSP00000418285:K1777R;ENSP00000386844:K2178R;ENSP00000295546:K2184R	ENSP00000295550:K2384R	K	-	2	0	COL6A3	237918451	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	3.171000	0.50824	0.362000	0.24319	0.533000	0.62120	AAA	COL6A3	-	NULL	ENSG00000163359		0.358	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	190	0.00	0	T	NM_004369		238253712	238253712	-1	no_errors	ENST00000295550	ensembl	human	known	69_37n	missense	84	25.00	28	SNP	1.000	C
COL7A1	1294	genome.wustl.edu	37	3	48602618	48602618	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:48602618C>A	ENST00000328333.8	-	116	8651	c.8544G>T	c.(8542-8544)gaG>gaT	p.E2848D	COL7A1_ENST00000454817.1_Missense_Mutation_p.E2816D|COL7A1_ENST00000470076.1_5'Flank|UCN2_ENST00000273610.3_5'Flank	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2848	Nonhelical region (NC2).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACTCATCATCCTCAGGGGGTA	0.602																																						dbGAP											0													38.0	40.0	40.0					3																	48602618		2203	4300	6503	-	-	-	SO:0001583	missense	0			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.8544G>T	3.37:g.48602618C>A	ENSP00000332371:p.Glu2848Asp		Q14054|Q16507	Missense_Mutation	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.E2848D	ENST00000328333.8	37	c.8544	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	C	10.19	1.283181	0.23392	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.86230	-2.08;-2.09	4.43	2.47	0.30058	.	0.159173	0.28859	N	0.013909	T	0.69151	0.3079	N	0.12182	0.205	0.23411	N	0.997732	B	0.19445	0.036	B	0.22152	0.038	T	0.52079	-0.8623	10	0.11182	T	0.66	.	4.2725	0.10794	0.0:0.6185:0.0:0.3815	.	2848	Q02388	CO7A1_HUMAN	D	2848;2816	ENSP00000332371:E2848D;ENSP00000412569:E2816D	ENSP00000332371:E2848D	E	-	3	2	COL7A1	48577622	0.160000	0.22878	0.911000	0.35937	0.010000	0.07245	0.316000	0.19469	1.096000	0.41439	0.467000	0.42956	GAG	COL7A1	-	NULL	ENSG00000114270		0.602	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	108	0.00	0	C	NM_000094		48602618	48602618	-1	no_errors	ENST00000328333	ensembl	human	known	69_37n	missense	120	14.89	21	SNP	0.945	A
COPA	1314	genome.wustl.edu	37	1	160275509	160275509	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:160275509G>A	ENST00000241704.7	-	16	1726	c.1497C>T	c.(1495-1497)gaC>gaT	p.D499D	COPA_ENST00000368069.3_Silent_p.D499D	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	499					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATGTGACATGTCTGCTGACC	0.443																																						dbGAP											0													181.0	164.0	170.0					1																	160275509		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1497C>T	1.37:g.160275509G>A			Q5T201|Q8IXZ9	Silent	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D499	ENST00000241704.7	37	c.1497	CCDS1202.1	1																																																																																			COPA	-	pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu	ENSG00000122218		0.443	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1	162	0.00	0	G	NM_004371		160275509	160275509	-1	no_errors	ENST00000368069	ensembl	human	known	69_37n	silent	74	12.94	11	SNP	1.000	A
COX5B	1329	genome.wustl.edu	37	2	98264516	98264516	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:98264516G>A	ENST00000258424.2	+	4	382	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	COX5B_ENST00000464949.1_3'UTR	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb	112					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|metal ion binding (GO:0046872)			endometrium(1)|lung(1)|urinary_tract(1)	3						GAGGCCCAGCGATGCCCCCGC	0.502																																						dbGAP											0													50.0	49.0	49.0					2																	98264516		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006229	CCDS2032.1	2q11.2	2011-07-04			ENSG00000135940	ENSG00000135940	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2269	protein-coding gene	gene with protein product		123866					Standard	NM_001862		Approved		uc002sya.3	P10606	OTTHUMG00000130548	ENST00000258424.2:c.335G>A	2.37:g.98264516G>A	ENSP00000258424:p.Arg112Gln		Q53YB7|Q96J18|Q99610	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su5b	p.R112Q	ENST00000258424.2	37	c.335	CCDS2032.1	2	.	.	.	.	.	.	.	.	.	.	.	24.7	4.564254	0.86335	.	.	ENSG00000135940	ENST00000258424	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	M	0.67569	2.06	0.58432	D	0.999999	P	0.44578	0.838	B	0.40101	0.319	T	0.64968	-0.6282	9	0.56958	D	0.05	-22.8856	16.8909	0.86087	0.0:0.0:1.0:0.0	.	112	P10606	COX5B_HUMAN	Q	112	.	ENSP00000258424:R112Q	R	+	2	0	COX5B	97630948	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.198000	0.94994	2.605000	0.88082	0.561000	0.74099	CGA	COX5B	-	pfam_Cyt_c_oxidase_su5b	ENSG00000135940		0.502	COX5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX5B	HGNC	protein_coding	OTTHUMT00000252972.2	66	0.00	0	G	NM_001862		98264516	98264516	+1	no_errors	ENST00000258424	ensembl	human	known	69_37n	missense	98	13.16	15	SNP	1.000	A
COQ10B	80219	genome.wustl.edu	37	2	198334832	198334832	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:198334832G>T	ENST00000263960.2	+	4	624	c.486G>T	c.(484-486)gaG>gaT	p.E162D	COQ10B_ENST00000409398.1_Missense_Mutation_p.E112D|COQ10B_ENST00000545340.1_Missense_Mutation_p.E119D|COQ10B_ENST00000409010.1_Missense_Mutation_p.E134D	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	162						mitochondrial inner membrane (GO:0005743)				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATCATTTGGAGACTATTTGGC	0.378																																						dbGAP											0													171.0	151.0	158.0					2																	198334832		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023510	CCDS2319.1	2q33.1	2008-02-05	2006-04-04		ENSG00000115520	ENSG00000115520			25819	protein-coding gene	gene with protein product			"""coenzyme Q10 homolog B (yeast)"""				Standard	NM_025147		Approved	FLJ13448	uc002uuh.1	Q9H8M1	OTTHUMG00000132745	ENST00000263960.2:c.486G>T	2.37:g.198334832G>T	ENSP00000263960:p.Glu162Asp		B7Z1Y4	Missense_Mutation	SNP	pfam_Polyket_cyc	p.E162D	ENST00000263960.2	37	c.486	CCDS2319.1	2	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207886	0.39003	.	.	ENSG00000115520	ENST00000263960;ENST00000409398;ENST00000545340;ENST00000409010	T;T;T;T	0.44482	1.85;0.92;1.88;1.87	5.25	4.17	0.49024	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.37732	0.1014	L	0.55213	1.73	0.51767	D	0.999932	P;B	0.35700	0.516;0.115	B;B	0.38194	0.267;0.241	T	0.15435	-1.0437	10	0.33141	T	0.24	-7.8059	9.4997	0.39011	0.1667:0.0:0.8333:0.0	.	134;162	B8ZZV9;Q9H8M1	.;CQ10B_HUMAN	D	162;112;119;134	ENSP00000263960:E162D;ENSP00000386785:E112D;ENSP00000442520:E119D;ENSP00000387223:E134D	ENSP00000263960:E162D	E	+	3	2	COQ10B	198043077	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.978000	0.49305	2.451000	0.82905	0.650000	0.86243	GAG	COQ10B	-	pfam_Polyket_cyc	ENSG00000115520		0.378	COQ10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ10B	HGNC	protein_coding	OTTHUMT00000256105.2	223	0.00	0	G	NM_025147		198334832	198334832	+1	no_errors	ENST00000263960	ensembl	human	known	69_37n	missense	118	10.53	14	SNP	1.000	T
CP	1356	genome.wustl.edu	37	3	148917532	148917532	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:148917532A>G	ENST00000264613.6	-	8	1730	c.1468T>C	c.(1468-1470)Tac>Cac	p.Y490H	CP_ENST00000462336.1_5'Flank	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	490	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GGGGAATAGTATGTGCCCTCG	0.443																																						dbGAP											0													259.0	233.0	242.0					3																	148917532		2203	4300	6503	-	-	-	SO:0001583	missense	0			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1468T>C	3.37:g.148917532A>G	ENSP00000264613:p.Tyr490His		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin	p.Y490H	ENST00000264613.6	37	c.1468	CCDS3141.1	3	.	.	.	.	.	.	.	.	.	.	A	7.451	0.642765	0.14451	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.98914	-5.23;-5.23	5.79	-1.25	0.09405	Cupredoxin (2);	0.555420	0.19637	N	0.109532	D	0.93318	0.7870	N	0.16903	0.455	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.001	D	0.86784	0.1981	10	0.15952	T	0.53	-4.5363	6.1628	0.20373	0.5355:0.0:0.345:0.1195	.	490;490;490;490	A5PL27;A8K5A4;P00450;Q1L857	.;.;CERU_HUMAN;.	H	490;273	ENSP00000264613:Y490H;ENSP00000420545:Y273H	ENSP00000264613:Y490H	Y	-	1	0	CP	150400222	0.000000	0.05858	0.008000	0.14137	0.130000	0.20726	-0.087000	0.11215	-0.098000	0.12285	-0.274000	0.10170	TAC	CP	-	superfamily_Cupredoxin	ENSG00000047457		0.443	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CP	HGNC	protein_coding	OTTHUMT00000317498.1	454	0.00	0	A	NM_000096		148917532	148917532	-1	no_errors	ENST00000264613	ensembl	human	known	69_37n	missense	125	14.19	21	SNP	0.011	G
CPA1	1357	genome.wustl.edu	37	7	130023254	130023254	+	Missense_Mutation	SNP	G	G	A	rs114365673	byFrequency	TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:130023254G>A	ENST00000011292.3	+	5	656	c.506G>A	c.(505-507)cGt>cAt	p.R169H	CPA1_ENST00000484324.1_Missense_Mutation_p.R81H	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	169					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GGCAGTAAGCGTCCAGCCATC	0.612													G|||	3	0.000599042	0.0	0.0	5008	,	,		19133	0.0		0.0	False		,,,				2504	0.0031					dbGAP											0													47.0	51.0	50.0					7																	130023254		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.506G>A	7.37:g.130023254G>A	ENSP00000011292:p.Arg169His		A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.R169H	ENST00000011292.3	37	c.506	CCDS5820.1	7	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045381	0.75846	.	.	ENSG00000091704	ENST00000481342;ENST00000011292;ENST00000476062;ENST00000484324	T;T;T;T	0.03689	3.84;3.84;3.84;3.84	5.45	5.45	0.79879	Peptidase M14, carboxypeptidase A (2);	0.100833	0.64402	D	0.000002	T	0.09291	0.0229	M	0.77103	2.36	0.80722	D	1	P;P	0.48764	0.545;0.915	B;B	0.42112	0.376;0.341	T	0.05500	-1.0881	10	0.45353	T	0.12	.	18.2718	0.90070	0.0:0.0:1.0:0.0	.	81;169	B4DDW9;P15085	.;CBPA1_HUMAN	H	81;169;81;81	ENSP00000420218:R81H;ENSP00000011292:R169H;ENSP00000419408:R81H;ENSP00000419497:R81H	ENSP00000011292:R169H	R	+	2	0	CPA1	129810490	1.000000	0.71417	0.535000	0.28026	0.041000	0.13682	9.476000	0.97823	2.572000	0.86782	0.555000	0.69702	CGT	CPA1	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000091704		0.612	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA1	HGNC	protein_coding	OTTHUMT00000349736.2	147	0.00	0	G	NM_001868		130023254	130023254	+1	no_errors	ENST00000011292	ensembl	human	known	69_37n	missense	138	18.82	32	SNP	1.000	A
CPB1	1360	genome.wustl.edu	37	3	148558714	148558714	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:148558714C>T	ENST00000491148.1	+	6	760	c.426C>T	c.(424-426)cgC>cgT	p.R142R	CPB1_ENST00000282957.4_Silent_p.R142R			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	142						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TCATCTCTCGCAGTGTTATCG	0.438																																						dbGAP											0													154.0	143.0	147.0					3																	148558714		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.426C>T	3.37:g.148558714C>T			O60834|Q53XJ0|Q96BQ8	Silent	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.R142	ENST00000491148.1	37	c.426	CCDS33874.1	3																																																																																			CPB1	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000153002		0.438	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPB1	HGNC	protein_coding	OTTHUMT00000355928.1	226	0.00	0	C	NM_001871		148558714	148558714	+1	no_errors	ENST00000282957	ensembl	human	known	69_37n	silent	51	19.05	12	SNP	0.008	T
CPQ	10404	genome.wustl.edu	37	8	98155319	98155319	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:98155319A>G	ENST00000220763.5	+	8	1537	c.1327A>G	c.(1327-1329)Atg>Gtg	p.M443V	KB-1958F4.1_ENST00000602771.1_RNA	NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	443					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										CATGACTGTCATGGATCCAAA	0.433																																						dbGAP											0													171.0	158.0	163.0					8																	98155319		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.1327A>G	8.37:g.98155319A>G	ENSP00000220763:p.Met443Val		B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	pfam_Peptidase_M28,pfam_Peptidase_M20	p.M443V	ENST00000220763.5	37	c.1327	CCDS6273.1	8	.	.	.	.	.	.	.	.	.	.	A	11.81	1.749297	0.30955	.	.	ENSG00000104324	ENST00000220763	T	0.44083	0.93	5.93	-1.03	0.10102	Peptidase M28 (1);	0.328267	0.33631	N	0.004703	T	0.15003	0.0362	N	0.11673	0.155	0.27367	N	0.955804	B	0.02656	0.0	B	0.06405	0.002	T	0.31052	-0.9957	10	0.02654	T	1	-6.6208	5.9305	0.19136	0.2519:0.5711:0.0775:0.0995	.	443	Q9Y646	PGCP_HUMAN	V	443	ENSP00000220763:M443V	ENSP00000220763:M443V	M	+	1	0	AC010859.1	98224495	0.974000	0.33945	0.100000	0.21137	0.876000	0.50452	2.412000	0.44609	-0.117000	0.11872	-0.316000	0.08728	ATG	CPQ	-	pfam_Peptidase_M28	ENSG00000104324		0.433	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPQ	HGNC	protein_coding	OTTHUMT00000379757.2	502	0.00	0	A	NM_016134		98155319	98155319	+1	no_errors	ENST00000220763	ensembl	human	known	69_37n	missense	124	16.67	25	SNP	0.588	G
CPS1	1373	genome.wustl.edu	37	2	211469850	211469850	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:211469850C>T	ENST00000233072.5	+	17	2057	c.1861C>T	c.(1861-1863)Ctg>Ttg	p.L621L	CPS1_ENST00000451903.2_Silent_p.L170L|CPS1_ENST00000430249.2_Silent_p.L627L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	621	ATP-grasp 1.				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)			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)	CAACCAAATTCTGGTGGAGAA	0.388																																						dbGAP											0													109.0	102.0	105.0					2																	211469850		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.1861C>T	2.37:g.211469850C>T			B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	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.L627	ENST00000233072.5	37	c.1879	CCDS2393.1	2																																																																																			CPS1	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,prints_CbamoylP_synth_lsu_CPSase_dom,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu	ENSG00000021826		0.388	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	246	0.00	0	C			211469850	211469850	+1	no_errors	ENST00000430249	ensembl	human	known	69_37n	silent	23	14.81	4	SNP	1.000	T
CRAT	1384	genome.wustl.edu	37	9	131857840	131857840	+	Missense_Mutation	SNP	C	C	T	rs201468277		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:131857840C>T	ENST00000318080.2	-	14	2011	c.1717G>A	c.(1717-1719)Ggc>Agc	p.G573S	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	573					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	ACACCGTAGCCGTCGGGGACC	0.632																																						dbGAP											0													62.0	53.0	56.0					9																	131857840		2203	4300	6503	-	-	-	SO:0001583	missense	0			X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.1717G>A	9.37:g.131857840C>T	ENSP00000315013:p.Gly573Ser		Q5T952|Q9BW16	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.G573S	ENST00000318080.2	37	c.1717	CCDS6919.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.540219|4.540219	0.85917|0.85917	.|.	.|.	ENSG00000095321|ENSG00000095321	ENST00000351352;ENST00000318080|ENST00000455396	D|.	0.91740|.	-2.9|.	4.62|4.62	3.72|3.72	0.42706|0.42706	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76772|0.76772	0.4034|0.4034	M|M	0.87617|0.87617	2.895|2.895	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.70016|.	0.967|.	T|T	0.79222|0.79222	-0.1892|-0.1892	10|5	0.87932|.	D|.	0|.	-31.7346|-31.7346	11.6269|11.6269	0.51151|0.51151	0.0:0.9141:0.0:0.0859|0.0:0.9141:0.0:0.0859	.|.	573|.	P43155|.	CACP_HUMAN|.	S|Q	492;573|147	ENSP00000315013:G573S|.	ENSP00000315013:G573S|.	G|R	-|-	1|2	0|0	CRAT|CRAT	130897661|130897661	1.000000|1.000000	0.71417|0.71417	0.739000|0.739000	0.30968|0.30968	0.692000|0.692000	0.40212|0.40212	7.638000|7.638000	0.83328|0.83328	1.155000|1.155000	0.42497|0.42497	0.609000|0.609000	0.83330|0.83330	GGC|CGG	CRAT	-	pfam_Carn_acyl_trans	ENSG00000095321		0.632	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAT	HGNC	protein_coding	OTTHUMT00000253700.1	86	0.00	0	C			131857840	131857840	-1	no_errors	ENST00000318080	ensembl	human	known	69_37n	missense	93	30.60	41	SNP	0.998	T
CREBBP	1387	genome.wustl.edu	37	16	3778245	3778245	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:3778245A>G	ENST00000262367.5	-	31	7612	c.6803T>C	c.(6802-6804)aTg>aCg	p.M2268T	CREBBP_ENST00000382070.3_Missense_Mutation_p.M2230T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2268					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AAGCTGTCCCATCTGAGCCGC	0.667			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															dbGAP		Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													22.0	24.0	23.0					16																	3778245		2197	4297	6494	-	-	-	SO:0001583	missense	0			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.6803T>C	16.37:g.3778245A>G	ENSP00000262367:p.Met2268Thr		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.M2268T	ENST00000262367.5	37	c.6803	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	a	8.136	0.784076	0.16189	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.83591	-1.74;-1.68	5.24	5.24	0.73138	.	0.066889	0.64402	D	0.000006	T	0.80439	0.4623	L	0.27053	0.805	0.54753	D	0.999987	P;P	0.40431	0.717;0.717	P;P	0.49047	0.599;0.599	T	0.79598	-0.1737	10	0.35671	T	0.21	-19.5824	13.7179	0.62710	1.0:0.0:0.0:0.0	.	2298;2268	Q4LE28;Q92793	.;CBP_HUMAN	T	2268;2298;2230;803	ENSP00000262367:M2268T;ENSP00000371502:M2230T	ENSP00000262367:M2268T	M	-	2	0	CREBBP	3718246	0.951000	0.32395	1.000000	0.80357	0.997000	0.91878	0.922000	0.28734	1.975000	0.57531	0.533000	0.62120	ATG	CREBBP	-	NULL	ENSG00000005339		0.667	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	40	0.00	0	A	NM_004380		3778245	3778245	-1	no_errors	ENST00000262367	ensembl	human	known	69_37n	missense	49	15.52	9	SNP	1.000	G
CREM	1390	genome.wustl.edu	37	10	35467876	35467876	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:35467876T>C	ENST00000395895.2	+	5	537	c.375T>C	c.(373-375)caT>caC	p.H125H	CREM_ENST00000374734.3_Silent_p.H76H|CREM_ENST00000345491.3_Silent_p.H76H|CREM_ENST00000489388.1_3'UTR|CREM_ENST00000463960.1_Silent_p.H21H|CREM_ENST00000484283.1_Silent_p.H46H|CREM_ENST00000342105.3_Silent_p.H21H|CREM_ENST00000429130.3_Silent_p.H109H|CREM_ENST00000439705.1_Silent_p.H125H|CREM_ENST00000395887.3_Silent_p.H46H|CREM_ENST00000333809.8_Silent_p.H125H|CREM_ENST00000474362.1_Intron|CREM_ENST00000463314.1_Intron|CREM_ENST00000460270.1_Intron|CREM_ENST00000337656.4_Silent_p.H76H|CREM_ENST00000489321.1_Silent_p.H60H|CREM_ENST00000374728.3_Silent_p.H60H|CREM_ENST00000354759.3_Silent_p.H76H|CREM_ENST00000348787.2_Silent_p.H60H|CREM_ENST00000374721.3_Silent_p.H109H|CREM_ENST00000361599.4_Silent_p.H46H|CREM_ENST00000374726.3_Silent_p.H60H|CREM_ENST00000479070.1_Silent_p.H76H			Q03060	CREM_HUMAN	cAMP responsive element modulator	125	KID. {ECO:0000255|PROSITE- ProRule:PRU00312}.				cell differentiation (GO:0030154)|glycosphingolipid metabolic process (GO:0006687)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding protein binding (GO:0008140)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						TTGATTCTCATAAACGTAGAG	0.313																																						dbGAP											0													57.0	60.0	59.0					10																	35467876		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS7180.1, CCDS7181.1, CCDS7182.1, CCDS7183.1, CCDS7184.1, CCDS7185.1, CCDS7186.1, CCDS7187.1, CCDS7188.1, CCDS31181.1, CCDS53519.1, CCDS53520.1, CCDS53517.1, CCDS53518.1, CCDS53521.1, CCDS58074.1, CCDS58075.1, CCDS58076.1	10p12.1-p11.1	2013-01-10			ENSG00000095794	ENSG00000095794		"""basic leucine zipper proteins"""	2352	protein-coding gene	gene with protein product		123812				1461747, 7916662	Standard	NM_182717		Approved	hCREM-2	uc001iyb.3	Q03060	OTTHUMG00000017953	ENST00000395895.2:c.375T>C	10.37:g.35467876T>C			A8K014|A8K3J7|A8K6A1|A8MPQ2|B4DXC1|C9J785|C9JZ10|E9PAR4|E9PHM1|O75519|Q14501|Q14503|Q14504|Q14505|Q14506|Q15731|Q16114|Q16116|Q5T9H7|Q5W1A6|Q5W1A7|Q5W1A8|Q5W1A9|Q5W1B0|Q5W1B2|Q7Z2Q6|Q8IVD4|Q96AG7|Q9NZ98|Q9NZ99|Q9NZB9	Silent	SNP	pfam_bZIP_1,pfam_Coactivator_CBP_pKID,pfam_bZIP_2,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB	p.H125	ENST00000395895.2	37	c.375		10																																																																																			CREM	-	pfam_Coactivator_CBP_pKID,pfscan_Coactivator_CBP_pKID,prints_Leuzip_CREB	ENSG00000095794		0.313	CREM-203	KNOWN	basic|appris_principal	protein_coding	CREM	HGNC	protein_coding		50	0.00	0	T	NM_001881		35467876	35467876	+1	no_errors	ENST00000395895	ensembl	human	known	69_37n	silent	46	14.81	8	SNP	0.997	C
CRNKL1	51340	genome.wustl.edu	37	20	20019010	20019010	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:20019010G>A	ENST00000377340.2	-	13	2144	c.2113C>T	c.(2113-2115)Cgg>Tgg	p.R705W	CRNKL1_ENST00000377327.4_Missense_Mutation_p.R693W|CRNKL1_ENST00000521379.1_5'UTR|CRNKL1_ENST00000536226.1_Missense_Mutation_p.R544W	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	705					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TGCTGCGTCCGTTGAAGCAAC	0.368																																						dbGAP											0													64.0	53.0	57.0					20																	20019010		2174	4202	6376	-	-	-	SO:0001583	missense	0			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.2113C>T	20.37:g.20019010G>A	ENSP00000366557:p.Arg705Trp		A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom	p.R705W	ENST00000377340.2	37	c.2113	CCDS33446.1	20	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063213	0.55432	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.51817	1.24;1.24;0.69	5.79	1.4	0.22301	.	0.056468	0.64402	D	0.000002	T	0.74496	0.3724	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.81536	-0.0888	10	0.87932	D	0	-18.891	17.3506	0.87322	0.0:0.0:0.586:0.414	.	705	Q9BZJ0	CRNL1_HUMAN	W	693;705;544	ENSP00000366544:R693W;ENSP00000366557:R705W;ENSP00000440733:R544W	ENSP00000366544:R693W	R	-	1	2	CRNKL1	19967010	1.000000	0.71417	0.112000	0.21494	0.835000	0.47333	4.589000	0.61006	-0.176000	0.10707	-1.378000	0.01179	CGG	CRNKL1	-	smart_HAT	ENSG00000101343		0.368	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	CRNKL1	HGNC	protein_coding	OTTHUMT00000127787.1	135	0.00	0	G			20019010	20019010	-1	no_errors	ENST00000377340	ensembl	human	known	69_37n	missense	26	13.33	4	SNP	0.977	A
CRNN	49860	genome.wustl.edu	37	1	152382472	152382472	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:152382472T>G	ENST00000271835.3	-	3	1148	c.1086A>C	c.(1084-1086)agA>agC	p.R362S	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	362	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGTTTGGCTTCTGTCCTGCT	0.587																																						dbGAP											0													206.0	169.0	182.0					1																	152382472		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1086A>C	1.37:g.152382472T>G	ENSP00000271835:p.Arg362Ser		B2RE60|Q8N613	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.R362S	ENST00000271835.3	37	c.1086	CCDS1010.1	1	.	.	.	.	.	.	.	.	.	.	T	10.81	1.455395	0.26161	.	.	ENSG00000143536	ENST00000271835	T	0.05319	3.46	4.15	-2.21	0.06973	.	0.434509	0.21996	N	0.066061	T	0.01029	0.0034	N	0.19112	0.55	0.09310	N	1	B	0.21381	0.055	B	0.16722	0.016	T	0.45920	-0.9228	10	0.19147	T	0.46	.	8.8963	0.35467	0.0:0.6705:0.0:0.3295	.	362	Q9UBG3	CRNN_HUMAN	S	362	ENSP00000271835:R362S	ENSP00000271835:R362S	R	-	3	2	CRNN	150649096	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.907000	0.04067	-0.366000	0.08064	0.477000	0.44152	AGA	CRNN	-	NULL	ENSG00000143536		0.587	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRNN	HGNC	protein_coding	OTTHUMT00000034503.1	514	0.77	4	T	NM_016190		152382472	152382472	-1	no_errors	ENST00000271835	ensembl	human	known	69_37n	missense	195	11.76	26	SNP	0.000	G
CRNN	49860	genome.wustl.edu	37	1	152382487	152382487	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:152382487A>G	ENST00000271835.3	-	3	1133	c.1071T>C	c.(1069-1071)acT>acC	p.T357T	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	357	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGCTCCACAGTCTCGGTGT	0.577																																						dbGAP											0													212.0	174.0	187.0					1																	152382487		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1071T>C	1.37:g.152382487A>G			B2RE60|Q8N613	Silent	SNP	pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.T357	ENST00000271835.3	37	c.1071	CCDS1010.1	1																																																																																			CRNN	-	NULL	ENSG00000143536		0.577	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRNN	HGNC	protein_coding	OTTHUMT00000034503.1	598	0.99	6	A	NM_016190		152382487	152382487	-1	no_errors	ENST00000271835	ensembl	human	known	69_37n	silent	233	10.98	29	SNP	0.012	G
CRTAC1	55118	genome.wustl.edu	37	10	99683088	99683088	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:99683088T>C	ENST00000370597.3	-	4	846	c.491A>G	c.(490-492)gAg>gGg	p.E164G	CRTAC1_ENST00000370591.2_Missense_Mutation_p.E164G|CRTAC1_ENST00000298819.4_Missense_Mutation_p.E164G	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	164						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CACGTTGACCTCATCGCTCAG	0.612																																						dbGAP											0													105.0	79.0	88.0					10																	99683088		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.491A>G	10.37:g.99683088T>C	ENSP00000359629:p.Glu164Gly		B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd	p.E164G	ENST00000370597.3	37	c.491	CCDS31266.1	10	.	.	.	.	.	.	.	.	.	.	T	16.79	3.219185	0.58560	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	5.17	5.17	0.71159	.	0.108809	0.64402	D	0.000007	T	0.24044	0.0582	M	0.62723	1.935	0.43708	D	0.99617	P;P	0.46064	0.622;0.872	B;B	0.38378	0.217;0.272	T	0.06391	-1.0829	10	0.59425	D	0.04	-21.7495	15.0021	0.71483	0.0:0.0:0.0:1.0	.	164;164	Q9NQ79-2;Q9NQ79	.;CRAC1_HUMAN	G	60;164;164;156;164	ENSP00000408445:E60G;ENSP00000359629:E164G;ENSP00000298819:E164G;ENSP00000310810:E156G;ENSP00000359623:E164G	ENSP00000298819:E164G	E	-	2	0	CRTAC1	99673078	1.000000	0.71417	0.997000	0.53966	0.734000	0.41952	4.728000	0.62000	1.958000	0.56883	0.460000	0.39030	GAG	CRTAC1	-	NULL	ENSG00000095713		0.612	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	CRTAC1	HGNC	protein_coding	OTTHUMT00000049754.1	209	0.00	0	T	NM_018058		99683088	99683088	-1	no_errors	ENST00000370597	ensembl	human	known	69_37n	missense	130	10.96	16	SNP	1.000	C
CRYGA	1418	genome.wustl.edu	37	2	209025576	209025577	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:209025576_209025577insC	ENST00000304502.4	-	3	495_496	c.476_477insG	c.(475-477)ggtfs	p.G159fs		NM_014617.3	NP_055432.2	P11844	CRGA_HUMAN	crystallin, gamma A	159	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		TGGCATCTGCACCCCCCCAGTC	0.53																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS33367.1	2q34	2013-02-14			ENSG00000168582	ENSG00000168582			2408	protein-coding gene	gene with protein product	"""gamma crystallin 5"""	123660		CRYG1			Standard	NM_014617		Approved	CRYG5, CRY-g-A		P11844	OTTHUMG00000154796	ENST00000304502.4:c.477dupG	2.37:g.209025583_209025583dupC	ENSP00000302105:p.Gly159fs		Q53ST5	Frame_Shift_Ins	INS	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.A160fs	ENST00000304502.4	37	c.477_476	CCDS33367.1	2																																																																																			CRYGA	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin	ENSG00000168582		0.530	CRYGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYGA	HGNC	protein_coding	OTTHUMT00000337096.1	59	0.00	0	-	NM_014617		209025576	209025577	-1	no_errors	ENST00000304502	ensembl	human	known	69_37n	frame_shift_ins	23	20.69	6	INS	0.408:0.651	C
CSF1	1435	genome.wustl.edu	37	1	110458304	110458304	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:110458304G>C	ENST00000329608.6	+	3	602	c.211G>C	c.(211-213)Gac>Cac	p.D71H	CSF1_ENST00000369802.3_Missense_Mutation_p.D71H|CSF1_ENST00000420111.2_Missense_Mutation_p.D71H|CSF1_ENST00000344188.5_Missense_Mutation_p.D71H|CSF1_ENST00000526001.1_3'UTR|CSF1_ENST00000369801.1_Missense_Mutation_p.D71H	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	71					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGAGTTTGTAGACCAGGAACA	0.507																																						dbGAP											0													182.0	159.0	167.0					1																	110458304		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.211G>C	1.37:g.110458304G>C	ENSP00000327513:p.Asp71His		A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Missense_Mutation	SNP	pfam_MCSF-1,superfamily_4_helix_cytokine-like_core,pirsf_MCSF-1	p.D71H	ENST00000329608.6	37	c.211	CCDS816.1	1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029021	0.35797	.	.	ENSG00000184371	ENST00000527192;ENST00000525659;ENST00000357302;ENST00000344188;ENST00000329608;ENST00000488198;ENST00000369802;ENST00000420111;ENST00000369801	T;T;T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17	5.46	4.55	0.56014	Four-helical cytokine-like, core (1);	0.411177	0.25894	N	0.027615	T	0.32436	0.0829	M	0.69823	2.125	0.39202	D	0.963157	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.991;0.992;0.986	T	0.20405	-1.0276	10	0.87932	D	0	.	10.5346	0.44996	0.0896:0.0:0.9104:0.0	.	71;71;71	P09603-3;P09603;P09603-2	.;CSF1_HUMAN;.	H	78;30;71;71;71;30;71;71;71	ENSP00000434527:D78H;ENSP00000431547:D30H;ENSP00000349854:D71H;ENSP00000342718:D71H;ENSP00000327513:D71H;ENSP00000433837:D30H;ENSP00000358817:D71H;ENSP00000407317:D71H;ENSP00000358816:D71H	ENSP00000327513:D71H	D	+	1	0	CSF1	110259827	1.000000	0.71417	0.894000	0.35097	0.016000	0.09150	2.478000	0.45189	1.451000	0.47736	0.561000	0.74099	GAC	CSF1	-	pfam_MCSF-1,superfamily_4_helix_cytokine-like_core,pirsf_MCSF-1	ENSG00000184371		0.507	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1	HGNC	protein_coding	OTTHUMT00000032208.1	359	0.00	0	G	NM_000757		110458304	110458304	+1	no_errors	ENST00000329608	ensembl	human	known	69_37n	missense	350	11.36	45	SNP	0.974	C
CSF1	1435	genome.wustl.edu	37	1	110465849	110465849	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:110465849G>A	ENST00000329608.6	+	6	997	c.606G>A	c.(604-606)ccG>ccA	p.P202P	CSF1_ENST00000369802.3_Silent_p.P202P|CSF1_ENST00000420111.2_Intron|CSF1_ENST00000344188.5_Silent_p.P202P|CSF1_ENST00000369801.1_Silent_p.P202P	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	202					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCAGTGACCCGGCCTCTGTCT	0.602											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													116.0	109.0	111.0					1																	110465849		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.606G>A	1.37:g.110465849G>A		1427	A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Silent	SNP	pfam_MCSF-1,superfamily_4_helix_cytokine-like_core,pirsf_MCSF-1	p.P202	ENST00000329608.6	37	c.606	CCDS816.1	1																																																																																			CSF1	-	pfam_MCSF-1,pirsf_MCSF-1	ENSG00000184371		0.602	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1	HGNC	protein_coding	OTTHUMT00000032208.1	262	0.38	1	G	NM_000757		110465849	110465849	+1	no_errors	ENST00000329608	ensembl	human	known	69_37n	silent	198	21.74	55	SNP	0.998	A
CSH1	1442	genome.wustl.edu	37	17	61972880	61972880	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:61972880A>G	ENST00000316193.8	-	4	550	c.409T>C	c.(409-411)Tat>Cat	p.Y137H	CSH1_ENST00000329882.8_Missense_Mutation_p.Y137H|CSH1_ENST00000453363.3_Intron	NM_001317.5	NP_001308.1	P0DML2	CSH1_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	137						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						AGGAGGTGATAGTCATCGCTG	0.597									Russell-Silver syndrome																													dbGAP											0													44.0	45.0	45.0					17																	61972880		2193	4296	6489	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	J00118	CCDS11649.1	17q22-q24	2008-07-18				ENSG00000136488			2440	protein-coding gene	gene with protein product	"""chorionic somatomammotropin A"", ""placental lactogen"", ""choriomammotropin"""	150200				6208192	Standard	NM_001317		Approved	hCS-A, CSA, PL, CSMT, FLJ75407	uc002jcs.2	P0DML2		ENST00000316193.8:c.409T>C	17.37:g.61972880A>G	ENSP00000316416:p.Tyr137His		P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.Y137H	ENST00000316193.8	37	c.409	CCDS11649.1	17	.	.	.	.	.	.	.	.	.	.	a	4.116	0.019740	0.08006	.	.	ENSG00000136488	ENST00000329882;ENST00000316193	D;D	0.89343	-2.41;-2.5	2.56	1.44	0.22558	.	0.309938	0.31612	N	0.007345	D	0.90985	0.7165	M	0.89287	3.02	0.80722	D	1	P;B;B	0.40302	0.712;0.162;0.016	P;B;B	0.48304	0.573;0.243;0.089	D	0.87941	0.2717	10	0.62326	D	0.03	.	5.9389	0.19181	0.8572:0.0:0.1428:0.0	.	137;137;87	A6NFB4;Q6PF11;P78451	.;.;.	H	137	ENSP00000333268:Y137H;ENSP00000316416:Y137H	ENSP00000316416:Y137H	Y	-	1	0	CSH1	59326612	0.188000	0.23250	0.014000	0.15608	0.001000	0.01503	4.028000	0.57246	0.212000	0.20703	-0.736000	0.03550	TAT	CSH1	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core	ENSG00000136488		0.597	CSH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSH1	HGNC	protein_coding	OTTHUMT00000416040.1	196	0.00	0	A	NM_001317		61972880	61972880	-1	no_errors	ENST00000316193	ensembl	human	known	69_37n	missense	109	16.15	21	SNP	0.902	G
CSMD3	114788	genome.wustl.edu	37	8	113256714	113256714	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:113256714delG	ENST00000297405.5	-	65	10555	c.10311delC	c.(10309-10311)accfs	p.T3437fs	CSMD3_ENST00000455883.2_Frame_Shift_Del_p.T3268fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.T3367fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.T3397fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3437	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGGCTGACAGGTATAAATCA	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												dbGAP											0													134.0	117.0	123.0					8																	113256714		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10311delC	8.37:g.113256714delG	ENSP00000297405:p.Thr3437fs		Q96PZ3	Frame_Shift_Del	DEL	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.C3438fs	ENST00000297405.5	37	c.10311	CCDS6315.1	8																																																																																			CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.438	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	207	0.00	0	G	NM_052900		113256714	113256714	-1	no_errors	ENST00000297405	ensembl	human	known	69_37n	frame_shift_del	14	12.50	2	DEL	0.990	-
CSPP1	79848	genome.wustl.edu	37	8	67988731	67988731	+	Silent	SNP	G	G	A	rs566786304		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:67988731G>A	ENST00000262210.5	+	3	253	c.222G>A	c.(220-222)gcG>gcA	p.A74A	CSPP1_ENST00000412460.1_5'UTR|COPS5_ENST00000519963.1_Intron	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	74					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AGTTGTCAGCGAAGCTTTCTG	0.348													G|||	1	0.000199681	0.0	0.0	5008	,	,		15292	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													90.0	82.0	85.0					8																	67988731		1831	4072	5903	-	-	-	SO:0001819	synonymous_variant	0			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.222G>A	8.37:g.67988731G>A			A6ND63|Q70F00|Q8TBC1	Silent	SNP	NULL	p.A74	ENST00000262210.5	37	c.222	CCDS43744.1	8																																																																																			CSPP1	-	NULL	ENSG00000104218		0.348	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSPP1	HGNC	protein_coding	OTTHUMT00000379254.1	77	0.00	0	G	NM_024790		67988731	67988731	+1	no_errors	ENST00000262210	ensembl	human	known	69_37n	silent	45	25.00	15	SNP	1.000	A
CSMD3	114788	genome.wustl.edu	37	8	113649054	113649054	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:113649054C>A	ENST00000297405.5	-	22	3951	c.3707G>T	c.(3706-3708)aGg>aTg	p.R1236M	CSMD3_ENST00000455883.2_Missense_Mutation_p.R1132M|CSMD3_ENST00000352409.3_Missense_Mutation_p.R1236M|CSMD3_ENST00000343508.3_Missense_Mutation_p.R1196M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1236	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1236T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACCCACACACCTTGGCAGAGG	0.488										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												dbGAP											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											184.0	121.0	142.0					8																	113649054		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3707G>T	8.37:g.113649054C>A	ENSP00000297405:p.Arg1236Met		Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R1236M	ENST00000297405.5	37	c.3707	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653979	0.88056	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.74	5.74	0.90152	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.75517	0.3860	L	0.47190	1.495	0.48830	D	0.999715	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.97110	0.974;0.985;1.0	T	0.73235	-0.4047	10	0.44086	T	0.13	.	19.9403	0.97159	0.0:1.0:0.0:0.0	.	1132;1236;1196	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	M	1196;1236;576;1132;1236	ENSP00000345799:R1196M;ENSP00000297405:R1236M;ENSP00000341558:R576M;ENSP00000412263:R1132M;ENSP00000343124:R1236M	ENSP00000297405:R1236M	R	-	2	0	CSMD3	113718230	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.712000	0.92718	0.650000	0.86243	AGG	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.488	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	344	0.00	0	C	NM_052900		113649054	113649054	-1	no_errors	ENST00000297405	ensembl	human	known	69_37n	missense	59	14.49	10	SNP	1.000	A
CTR9	9646	genome.wustl.edu	37	11	10800562	10800562	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:10800562C>T	ENST00000361367.2	+	25	3858	c.3432C>T	c.(3430-3432)ggC>ggT	p.G1144G		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	1144	Ser-rich.				cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGGGTTCTGGCCAAGGCTCTG	0.493																																						dbGAP											0													106.0	113.0	111.0					11																	10800562		2201	4294	6495	-	-	-	SO:0001819	synonymous_variant	0			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.3432C>T	11.37:g.10800562C>T			D3DQV8|Q15015	Silent	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G1144	ENST00000361367.2	37	c.3432	CCDS7805.1	11																																																																																			CTR9	-	NULL	ENSG00000198730		0.493	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTR9	HGNC	protein_coding	OTTHUMT00000386215.1	48	0.00	0	C	NM_014633		10800562	10800562	+1	no_errors	ENST00000361367	ensembl	human	known	69_37n	silent	24	14.29	4	SNP	0.022	T
CTSA	5476	genome.wustl.edu	37	20	44521946	44521946	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:44521946A>G	ENST00000372459.2	+	6	881	c.688A>G	c.(688-690)Aac>Gac	p.N230D	NEURL2_ENST00000372518.4_5'Flank|CTSA_ENST00000354880.5_Missense_Mutation_p.N231D|CTSA_ENST00000191018.5_Missense_Mutation_p.N230D|CTSA_ENST00000372484.3_Missense_Mutation_p.N248D|RP3-337O18.9_ENST00000607703.1_RNA			P10619	PPGB_HUMAN	cathepsin A	230					glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CCTTCTGGGGAACAGGTATGG	0.562																																						dbGAP											0													112.0	98.0	102.0					20																	44521946		2203	4300	6503	-	-	-	SO:0001583	missense	0			M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"""Cathepsins"""	9251	protein-coding gene	gene with protein product	"""carboxypeptidase C"", ""lysosomal protective protein"", ""carboxypeptidase-L"", ""carboxypeptidase Y-like kininase"", ""deamidase"", ""lysosomal carboxypeptidase A"", ""urinary kininase"""	613111	"""protective protein for beta-galactosidase (galactosialidosis)"""	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372459.2:c.688A>G	20.37:g.44521946A>G	ENSP00000361537:p.Asn230Asp		B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Missense_Mutation	SNP	pfam_Peptidase_S10,prints_Peptidase_S10	p.N248D	ENST00000372459.2	37	c.742	CCDS46609.1	20	.	.	.	.	.	.	.	.	.	.	A	5.122	0.208103	0.09704	.	.	ENSG00000064601	ENST00000354880;ENST00000372484;ENST00000191018;ENST00000419493;ENST00000372459	T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74	5.21	4.12	0.48240	.	0.319885	0.38959	N	0.001506	T	0.35799	0.0944	N	0.00538	-1.39	0.30669	N	0.753537	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.002;0.0;0.004	T	0.39921	-0.9590	10	0.02654	T	1	0.0948	10.3801	0.44106	0.9234:0.0:0.0766:0.0	.	230;230;247	B4E324;P10619;Q59EV6	.;PPGB_HUMAN;.	D	231;248;230;213;230	ENSP00000346952:N231D;ENSP00000361562:N248D;ENSP00000191018:N230D;ENSP00000408533:N213D;ENSP00000361537:N230D	ENSP00000191018:N230D	N	+	1	0	CTSA	43955353	0.996000	0.38824	1.000000	0.80357	0.957000	0.61999	3.279000	0.51670	1.970000	0.57323	0.533000	0.62120	AAC	CTSA	-	pfam_Peptidase_S10	ENSG00000064601		0.562	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	CTSA	HGNC	protein_coding	OTTHUMT00000471297.2	305	0.65	2	A	NM_000308		44521946	44521946	+1	no_errors	ENST00000372484	ensembl	human	known	69_37n	missense	413	10.99	51	SNP	0.935	G
CTSD	1509	genome.wustl.edu	37	11	1774867	1774867	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:1774867C>T	ENST00000236671.2	-	9	1237	c.1105G>A	c.(1105-1107)Ggc>Agc	p.G369S	RP11-295K3.1_ENST00000427721.1_Intron	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	369					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CCCATGAAGCCGCTCAGGCAG	0.657																																						dbGAP											0													46.0	46.0	46.0					11																	1774867		2202	4299	6501	-	-	-	SO:0001583	missense	0			M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.1105G>A	11.37:g.1774867C>T	ENSP00000236671:p.Gly369Ser		Q6IB57	Missense_Mutation	SNP	pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1	p.G369S	ENST00000236671.2	37	c.1105	CCDS7725.1	11	.	.	.	.	.	.	.	.	.	.	c	30	5.052209	0.93793	.	.	ENSG00000117984	ENST00000236671;ENST00000429746	T;T	0.62364	0.03;0.16	3.76	3.76	0.43208	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.79947	0.4534	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.83759	0.0213	10	0.59425	D	0.04	.	16.1634	0.81734	0.0:1.0:0.0:0.0	.	369	P07339	CATD_HUMAN	S	369;146	ENSP00000236671:G369S;ENSP00000402586:G146S	ENSP00000236671:G369S	G	-	1	0	CTSD	1731443	1.000000	0.71417	0.996000	0.52242	0.847000	0.48162	7.183000	0.77697	2.122000	0.65172	0.313000	0.20887	GGC	CTSD	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic	ENSG00000117984		0.657	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSD	HGNC	protein_coding	OTTHUMT00000104272.5	42	0.00	0	C	NM_001909		1774867	1774867	-1	no_errors	ENST00000236671	ensembl	human	known	69_37n	missense	41	18.00	9	SNP	1.000	T
CTSL	1514	genome.wustl.edu	37	9	90344590	90344590	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:90344590G>A	ENST00000343150.5	+	6	1614	c.724G>A	c.(724-726)Gtg>Atg	p.V242M	CTSL_ENST00000340342.6_Missense_Mutation_p.V242M|CTSL_ENST00000495822.1_3'UTR			P07711	CATL1_HUMAN	cathepsin L	242					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)										AGTTGCAACTGTGGGGCCCAT	0.428																																						dbGAP											0													149.0	144.0	146.0					9																	90344590		2203	4300	6503	-	-	-	SO:0001583	missense	0			X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"""Cathepsins"""	2537	protein-coding gene	gene with protein product		116880	"""cathepsin L1"""	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.724G>A	9.37:g.90344590G>A	ENSP00000345344:p.Val242Met		Q6IAV1|Q96QJ0	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.V242M	ENST00000343150.5	37	c.724	CCDS6675.1	9	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538791	0.45176	.	.	ENSG00000135047	ENST00000343150;ENST00000340342	T;T	0.23348	1.91;1.91	4.19	1.19	0.21007	Peptidase C1A, papain C-terminal (2);	0.061993	0.64402	D	0.000004	T	0.46308	0.1386	M	0.84846	2.72	0.80722	D	1	D	0.71674	0.998	D	0.66716	0.946	T	0.35425	-0.9789	10	0.72032	D	0.01	.	5.8054	0.18438	0.0775:0.1365:0.6447:0.1413	.	242	P07711	CATL1_HUMAN	M	242	ENSP00000345344:V242M;ENSP00000365061:V242M	ENSP00000365061:V242M	V	+	1	0	CTSL1	89534410	1.000000	0.71417	0.002000	0.10522	0.361000	0.29550	3.032000	0.49736	0.038000	0.15604	0.655000	0.94253	GTG	CTSL1	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000135047		0.428	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSL1	HGNC	protein_coding	OTTHUMT00000052936.1	306	0.00	0	G	NM_001912		90344590	90344590	+1	no_errors	ENST00000340342	ensembl	human	known	69_37n	missense	355	13.38	55	SNP	0.969	A
CTSV	1515	genome.wustl.edu	37	9	99798915	99798915	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:99798915G>A	ENST00000259470.5	-	5	760	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	CTSV_ENST00000479932.1_5'Flank|CTSV_ENST00000538255.1_Missense_Mutation_p.R171C	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	171					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)										CCTTGAGGACGCGAACAGTCC	0.522																																						dbGAP											0													113.0	100.0	104.0					9																	99798915		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"""Cathepsins"""	2538	protein-coding gene	gene with protein product		603308	"""cathepsin L2"""	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.511C>T	9.37:g.99798915G>A	ENSP00000259470:p.Arg171Cys		O60233|Q2TB86|Q5T1U0	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.R171C	ENST00000259470.5	37	c.511	CCDS6723.1	9	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855152	0.32791	.	.	ENSG00000136943	ENST00000259470;ENST00000538255	D;D	0.87729	-2.29;-2.29	3.8	1.87	0.25490	Peptidase C1A, papain C-terminal (2);	0.419621	0.25887	N	0.027657	D	0.90635	0.7063	M	0.75615	2.305	0.28786	N	0.899575	D;D	0.67145	0.996;0.996	P;P	0.62813	0.866;0.907	D	0.84695	0.0725	9	.	.	.	.	9.6432	0.39853	0.0:0.0:0.447:0.553	.	171;171	B2R717;O60911	.;CATL2_HUMAN	C	171	ENSP00000259470:R171C;ENSP00000445052:R171C	.	R	-	1	0	CTSL2	98838736	0.516000	0.26218	0.183000	0.23137	0.115000	0.19883	2.196000	0.42686	0.549000	0.28973	0.555000	0.69702	CGT	CTSL2	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000136943		0.522	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSL2	HGNC	protein_coding	OTTHUMT00000053301.2	258	0.00	0	G	NM_001333		99798915	99798915	-1	no_errors	ENST00000259470	ensembl	human	known	69_37n	missense	282	16.32	55	SNP	0.278	A
CTSW	1521	genome.wustl.edu	37	11	65650877	65650877	+	Silent	SNP	G	G	T	rs372252557		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:65650877G>T	ENST00000307886.3	+	9	1048	c.1002G>T	c.(1000-1002)ggG>ggT	p.G334G	CTSW_ENST00000528419.1_Silent_p.G334G|FIBP_ENST00000426652.2_5'Flank	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	334					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		ACTCCTGGGGGGCCCAATGGG	0.592																																						dbGAP											0													67.0	72.0	70.0					11																	65650877		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"""Cathepsins"""	2546	protein-coding gene	gene with protein product		602364	"""cathepsin W (lymphopain)"""			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.1002G>T	11.37:g.65650877G>T			Q86VT4	Silent	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.G334	ENST00000307886.3	37	c.1002	CCDS8117.1	11																																																																																			CTSW	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000172543		0.592	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSW	HGNC	protein_coding	OTTHUMT00000391042.1	63	0.00	0	G	NM_001335		65650877	65650877	+1	no_errors	ENST00000307886	ensembl	human	known	69_37n	silent	107	12.30	15	SNP	0.062	T
CUTA	51596	genome.wustl.edu	37	6	33384457	33384457	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:33384457T>C	ENST00000488034.1	-	6	631	c.510A>G	c.(508-510)tcA>tcG	p.S170S	CUTA_ENST00000488478.1_Missense_Mutation_p.S154G|CUTA_ENST00000374500.5_Silent_p.S189S|CUTA_ENST00000374496.3_Silent_p.S147S|CUTA_ENST00000440279.3_Silent_p.S147S|CUTA_ENST00000607266.1_Silent_p.S147S|CUTA_ENST00000494751.1_Intron|CUTA_ENST00000492510.1_5'Flank	NM_001014837.1|NM_001014838.1|NM_001014840.1|NM_015921.2	NP_001014837.1|NP_001014838.1|NP_001014840.1|NP_057005.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	170	O-glycosylated at one site.				protein localization (GO:0008104)|response to metal ion (GO:0010038)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						AGTCAGAAACTGACTCTGTGA	0.532																																						dbGAP											0													101.0	88.0	92.0					6																	33384457		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF106943	CCDS4779.1, CCDS34432.1, CCDS34433.1	6p21.32	2008-02-04	2006-02-15	2006-02-15	ENSG00000112514	ENSG00000112514			21101	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 82"", ""acetylcholinesterase-associated protein"""	C6orf82, ACHAP			Standard	XM_006715108		Approved		uc003oen.1	O60888	OTTHUMG00000031254	ENST00000488034.1:c.510A>G	6.37:g.33384457T>C			A2AB26|A2BEL4|Q3B784|Q5JXM9|Q5SU05|Q9NYQ9	Missense_Mutation	SNP	pfam_Ion_tolerance_CutA,superfamily_N-reg_PII-like_a/b	p.S154G	ENST00000488034.1	37	c.460	CCDS34433.1	6	.	.	.	.	.	.	.	.	.	.	T	14.70	2.615023	0.46631	.	.	ENSG00000112514	ENST00000488478	.	.	.	4.12	-8.24	0.01029	.	1.230700	0.05712	N	0.596081	T	0.03520	0.0101	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.17592	-1.0364	6	0.15066	T	0.55	-35.973	2.5174	0.04671	0.1027:0.3233:0.2736:0.3003	.	.	.	.	G	154	.	ENSP00000418612:S154G	S	-	1	0	CUTA	33492435	0.000000	0.05858	0.000000	0.03702	0.902000	0.53008	-7.888000	0.00028	-2.034000	0.00924	0.533000	0.62120	AGT	CUTA	-	NULL	ENSG00000112514		0.532	CUTA-008	KNOWN	basic|CCDS	protein_coding	CUTA	HGNC	protein_coding	OTTHUMT00000076541.3	159	0.00	0	T	NM_015921		33384457	33384457	-1	no_errors	ENST00000488478	ensembl	human	putative	69_37n	missense	190	13.24	29	SNP	0.000	C
CUL9	23113	genome.wustl.edu	37	6	43155721	43155721	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:43155721G>A	ENST00000252050.4	+	7	1936	c.1852G>A	c.(1852-1854)Gcc>Acc	p.A618T	CUL9_ENST00000372647.2_Missense_Mutation_p.A618T|CUL9_ENST00000354495.3_Missense_Mutation_p.A508T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	618					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AAAGGCCGAGGCCCCTAAGAC	0.557																																						dbGAP											0													63.0	61.0	62.0					6																	43155721		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.1852G>A	6.37:g.43155721G>A	ENSP00000252050:p.Ala618Thr		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.A618T	ENST00000252050.4	37	c.1852	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	G	10.74	1.434211	0.25813	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.72725	-0.68;-0.68;-0.57	5.28	-7.31	0.01441	.	2.480150	0.00894	N	0.002271	T	0.25121	0.0610	N	0.14661	0.345	0.09310	N	1	B;B;B	0.19583	0.0;0.0;0.037	B;B;B	0.18263	0.001;0.001;0.021	T	0.15925	-1.0420	10	0.46703	T	0.11	-0.3032	3.2058	0.06665	0.134:0.1118:0.378:0.3761	.	618;618;618	E9PEZ1;Q8IWT3;Q05C85	.;CUL9_HUMAN;.	T	618;508;618	ENSP00000252050:A618T;ENSP00000346490:A508T;ENSP00000361730:A618T	ENSP00000252050:A618T	A	+	1	0	CUL9	43263699	0.000000	0.05858	0.017000	0.16124	0.884000	0.51177	-0.673000	0.05239	-0.962000	0.03604	0.467000	0.42956	GCC	CUL9	-	NULL	ENSG00000112659		0.557	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	103	0.00	0	G	NM_015089		43155721	43155721	+1	no_errors	ENST00000252050	ensembl	human	known	69_37n	missense	72	19.10	17	SNP	0.000	A
CXCL2	2920	genome.wustl.edu	37	4	74964822	74964822	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:74964822G>A	ENST00000508487.2	-	1	188	c.16C>T	c.(16-18)Ctc>Ttc	p.L6F	CXCL2_ENST00000296031.4_5'UTR	NM_002089.3	NP_002080.1	P19875	CXCL2_HUMAN	chemokine (C-X-C motif) ligand 2	6					cell chemotaxis (GO:0060326)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|response to molecule of bacterial origin (GO:0002237)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			lung(1)	1	Breast(15;0.00612)		all cancers(17;0.00317)|Lung(101;0.196)			GCGGCGGAGAGCGTGGCGCGG	0.756																																						dbGAP											0													3.0	5.0	5.0					4																	74964822		1637	3390	5027	-	-	-	SO:0001583	missense	0			M36820	CCDS34008.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000081041		"""Endogenous ligands"""	4603	protein-coding gene	gene with protein product		139110	"""GRO2 oncogene"""	GRO2		2217207	Standard	NM_002089		Approved	SCYB2, GROb, MIP-2a, MGSA-b, CINC-2a	uc003hhm.4	P19875		ENST00000508487.2:c.16C>T	4.37:g.74964822G>A	ENSP00000427279:p.Leu6Phe		Q6FGD6|Q9UPB8	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC	p.L6F	ENST00000508487.2	37	c.16	CCDS34008.1	4	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345434	0.41498	.	.	ENSG00000081041	ENST00000508487	T	0.32272	1.46	2.69	-5.39	0.02664	.	6.936240	0.00166	N	0.000001	T	0.23094	0.0558	L	0.47716	1.5	0.09310	N	1	P	0.48162	0.906	B	0.41036	0.346	T	0.35101	-0.9802	10	0.44086	T	0.13	.	2.0131	0.03492	0.1486:0.144:0.4808:0.2266	.	6	P19875	CXCL2_HUMAN	F	6	ENSP00000427279:L6F	ENSP00000427279:L6F	L	-	1	0	CXCL2	75183686	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-1.937000	0.01547	-1.223000	0.02584	0.306000	0.20318	CTC	CXCL2	-	NULL	ENSG00000081041		0.756	CXCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCL2	HGNC	protein_coding	OTTHUMT00000362731.2	44	0.00	0	G	NM_002089		74964822	74964822	-1	no_errors	ENST00000508487	ensembl	human	known	69_37n	missense	64	20.00	16	SNP	0.000	A
CYB5A	1528	genome.wustl.edu	37	18	71930610	71930610	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr18:71930610T>G	ENST00000340533.4	-	2	372	c.232A>C	c.(232-234)Aca>Cca	p.T78P	CYB5A_ENST00000494131.2_Missense_Mutation_p.T78P|CYB5A_ENST00000299438.9_Missense_Mutation_p.T4P|CYB5A_ENST00000579064.1_5'Flank|CYB5A_ENST00000397914.4_Missense_Mutation_p.T78P	NM_148923.3	NP_683725.1	P00167	CYB5_HUMAN	cytochrome b5 type A (microsomal)	78	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				hydrogen ion transmembrane transport (GO:1902600)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	aldo-keto reductase (NADP) activity (GO:0004033)|cytochrome-c oxidase activity (GO:0004129)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(1)|lung(1)|skin(1)	4		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)				ATGATGAATGTTTTGGACATT	0.458																																					NSCLC(176;1530 2076 2606 27426 50572)|Ovarian(151;328 1870 2837 37860 52175)	dbGAP											0													121.0	111.0	115.0					18																	71930610		2203	4300	6503	-	-	-	SO:0001583	missense	0			M22865	CCDS12004.1, CCDS12005.1, CCDS54188.1	18q23	2006-01-30	2006-01-30	2006-01-30	ENSG00000166347	ENSG00000166347		"""Cytochrome b genes"""	2570	protein-coding gene	gene with protein product		613218	"""cytochrome b-5"", ""cytochrome b5 (microsomal)"""	CYB5		1840560	Standard	NM_148923		Approved		uc002lli.3	P00167	OTTHUMG00000132843	ENST00000340533.4:c.232A>C	18.37:g.71930610T>G	ENSP00000341625:p.Thr78Pro		A8MV91|F8WEU4|Q6IB14	Missense_Mutation	SNP	pfam_Cyt_B5,superfamily_Cyt_B5,prints_Cyt_B5,pfscan_Cyt_B5	p.T78P	ENST00000340533.4	37	c.232	CCDS12004.1	18	.	.	.	.	.	.	.	.	.	.	T	9.567	1.120052	0.20877	.	.	ENSG00000166347	ENST00000397914;ENST00000340533;ENST00000299438	T;T	0.80393	-1.37;-1.37	5.79	1.86	0.25419	Cytochrome b5 (5);	0.683613	0.15833	N	0.242381	T	0.55130	0.1901	N	0.08118	0	0.09310	N	1	B;P	0.43885	0.35;0.82	B;B	0.38712	0.28;0.251	T	0.48399	-0.9039	10	0.25106	T	0.35	-2.0883	3.3593	0.07181	0.3973:0.1606:0.0:0.4422	.	78;78	P00167;P00167-2	CYB5_HUMAN;.	P	78	ENSP00000381011:T78P;ENSP00000341625:T78P	ENSP00000299438:T78P	T	-	1	0	CYB5A	70081590	0.002000	0.14202	0.024000	0.17045	0.477000	0.33069	-0.190000	0.09615	0.431000	0.26258	0.533000	0.62120	ACA	CYB5A	-	pfam_Cyt_B5,superfamily_Cyt_B5,prints_Cyt_B5,pfscan_Cyt_B5	ENSG00000166347		0.458	CYB5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5A	HGNC	protein_coding	OTTHUMT00000256316.1	150	0.00	0	T	NM_001914, NM_148923		71930610	71930610	-1	no_errors	ENST00000340533	ensembl	human	known	69_37n	missense	42	14.29	7	SNP	0.000	G
CYB5D1	124637	genome.wustl.edu	37	17	7761689	7761689	+	Intron	SNP	G	G	A	rs555634732		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:7761689G>A	ENST00000332439.4	+	2	312				LSMD1_ENST00000570555.1_5'UTR|LSMD1_ENST00000575771.1_5'Flank|LSMD1_ENST00000335155.5_5'Flank|CYB5D1_ENST00000571846.1_Intron|LSMD1_ENST00000575071.1_5'Flank|LSMD1_ENST00000576861.1_Intron|CYB5D1_ENST00000570446.1_Intron|LSMD1_ENST00000575208.1_5'Flank|LSMD1_ENST00000576384.1_5'Flank|LSMD1_ENST00000333775.5_5'Flank	NM_144607.4	NP_653208.2	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1								heme binding (GO:0020037)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6		all_cancers(10;0.11)|Prostate(122;0.219)				CGAAGGGCTGGCATTGACAGT	0.572											OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													64.0	59.0	61.0					17																	7761689		2202	4300	6502	-	-	-	SO:0001627	intron_variant	0			AK057061	CCDS11123.1	17p13.1	2006-01-12	2006-01-12						26516	protein-coding gene	gene with protein product						12477932	Standard	NM_144607		Approved	FLJ32499	uc002gjb.4	Q6P9G0		ENST00000332439.4:c.161-32G>A	17.37:g.7761689G>A		644	D3DTQ8|Q96DM7	Nonsense_Mutation	SNP	NULL	p.W29*	ENST00000332439.4	37	c.87	CCDS11123.1	17																																																																																			CYB5D1	-	NULL	ENSG00000182224		0.572	CYB5D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5D1	HGNC	protein_coding	OTTHUMT00000440841.1	132	0.00	0	G	NM_144607		7761689	7761689	+1	no_start_codon	ENST00000574196	ensembl	human	known	69_37n	nonsense	199	15.25	36	SNP	0.000	A
CYHR1	50626	genome.wustl.edu	37	8	145677911	145677911	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:145677911G>A	ENST00000438911.2	-	4	661	c.528C>T	c.(526-528)caC>caT	p.H176H	CYHR1_ENST00000530374.1_Silent_p.H218H	NM_138496.1	NP_612505.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1	176						cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)	zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGAAGGGGCCGTGCCATGGGC	0.622																																						dbGAP											0													107.0	112.0	110.0					8																	145677911		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AB007965	CCDS6426.1, CCDS47943.1	8q24	2004-12-07	2005-07-24		ENSG00000187954	ENSG00000187954			17806	protein-coding gene	gene with protein product			"""cysteine and histidine rich 1"""			10745073	Standard	NM_138496		Approved	CHRP, KIAA0496, MGC13010	uc003zcv.2	Q6ZMK1	OTTHUMG00000165171	ENST00000438911.2:c.528C>T	8.37:g.145677911G>A			B3KSX0|D3DWM3|Q9BSF6|Q9BSU6	Silent	SNP	superfamily_TRAF-like,pfscan_Znf_TRAF	p.H176	ENST00000438911.2	37	c.528	CCDS47943.1	8																																																																																			CYHR1	-	superfamily_TRAF-like	ENSG00000187954		0.622	CYHR1-001	KNOWN	basic|CCDS	protein_coding	CYHR1	HGNC	protein_coding	OTTHUMT00000382438.1	259	0.00	0	G	NM_032687		145677911	145677911	-1	no_errors	ENST00000438911	ensembl	human	known	69_37n	silent	415	11.84	56	SNP	0.948	A
CYP3A5	1577	genome.wustl.edu	37	7	99247714	99247714	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:99247714T>G	ENST00000222982.4	-	12	1494	c.1395A>C	c.(1393-1395)aaA>aaC	p.K465N	CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000343703.5_Missense_Mutation_p.K455N	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	465					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CTTTACAAGGTTTGAAGGAGA	0.353																																						dbGAP											0													161.0	147.0	151.0					7																	99247714		2203	4300	6503	-	-	-	SO:0001583	missense	0			L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"""Cytochrome P450s"""	2638	protein-coding gene	gene with protein product		605325	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"""				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.1395A>C	7.37:g.99247714T>G	ENSP00000222982:p.Lys465Asn		A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.K465N	ENST00000222982.4	37	c.1395	CCDS5672.1	7	.	.	.	.	.	.	.	.	.	.	T	11.68	1.711742	0.30322	.	.	ENSG00000106258	ENST00000222982;ENST00000343703	T;T	0.70282	-0.47;-0.47	4.73	-3.47	0.04753	.	0.724302	0.13547	N	0.379775	T	0.68513	0.3009	M	0.92169	3.28	0.09310	N	0.999993	B;B;B	0.16603	0.014;0.018;0.018	B;B;B	0.17433	0.01;0.018;0.018	T	0.62177	-0.6909	10	0.44086	T	0.13	.	2.3702	0.04329	0.1434:0.4166:0.1462:0.2937	.	455;465;465	F5H4S0;B2R9K2;P20815	.;.;CP3A5_HUMAN	N	465;455	ENSP00000222982:K465N;ENSP00000342969:K455N	ENSP00000222982:K465N	K	-	3	2	CYP3A5	99085650	0.000000	0.05858	0.988000	0.46212	0.995000	0.86356	-1.292000	0.02772	-0.411000	0.07530	0.459000	0.35465	AAA	CYP3A5	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000106258		0.353	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A5	HGNC	protein_coding	OTTHUMT00000345469.1	220	0.00	0	T			99247714	99247714	-1	no_errors	ENST00000222982	ensembl	human	known	69_37n	missense	106	12.30	15	SNP	0.020	G
CYP4F12	66002	genome.wustl.edu	37	19	15791295	15791295	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:15791295T>C	ENST00000550308.1	+	5	871	c.491T>C	c.(490-492)aTa>aCa	p.I164T	CYP4F12_ENST00000324632.10_Missense_Mutation_p.I164T	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	164					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	AAGTCCTATATAACGATCTTC	0.532																																						dbGAP											0													52.0	52.0	52.0					19																	15791295		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.491T>C	19.37:g.15791295T>C	ENSP00000448998:p.Ile164Thr		E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.I164T	ENST00000550308.1	37	c.491	CCDS42517.1	19	.	.	.	.	.	.	.	.	.	.	.	7.764	0.705966	0.15172	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.67865	-0.29;-0.29	2.92	2.92	0.33932	.	0.188150	0.33075	U	0.005316	T	0.54175	0.1842	N	0.12527	0.23	0.27383	N	0.955369	P;B	0.42993	0.797;0.293	P;B	0.49192	0.602;0.232	T	0.50709	-0.8796	10	0.56958	D	0.05	.	9.2285	0.37421	0.0:0.0:0.0:1.0	.	164;164	B4E270;Q9HCS2	.;CP4FC_HUMAN	T	164	ENSP00000448998:I164T;ENSP00000321821:I164T	ENSP00000321821:I164T	I	+	2	0	CYP4F12	15652295	1.000000	0.71417	0.639000	0.29394	0.001000	0.01503	5.806000	0.69150	1.329000	0.45376	0.402000	0.26972	ATA	CYP4F12	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000186204		0.532	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F12	HGNC	protein_coding	OTTHUMT00000378938.9	132	0.00	0	T			15791295	15791295	+1	no_errors	ENST00000324632	ensembl	human	known	69_37n	missense	133	10.74	16	SNP	0.999	C
CYP7A1	1581	genome.wustl.edu	37	8	59409253	59409253	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:59409253A>G	ENST00000301645.3	-	3	955	c.818T>C	c.(817-819)cTg>cCg	p.L273P		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	273					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GGCCTTCTCCAGATCATCAAA	0.483									Neonatal Giant Cell Hepatitis																													dbGAP											0													183.0	181.0	182.0					8																	59409253		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Neonatal Hemochromatosis	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.818T>C	8.37:g.59409253A>G	ENSP00000301645:p.Leu273Pro		P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.L273P	ENST00000301645.3	37	c.818	CCDS6171.1	8	.	.	.	.	.	.	.	.	.	.	A	10.68	1.418869	0.25552	.	.	ENSG00000167910	ENST00000301645	T	0.68765	-0.35	5.62	-3.72	0.04411	.	0.568434	0.21429	N	0.074689	T	0.46541	0.1398	L	0.35854	1.095	0.34733	D	0.729944	B	0.26120	0.142	B	0.22753	0.041	T	0.20840	-1.0263	10	0.28530	T	0.3	0.9343	7.7866	0.29095	0.5065:0.0:0.392:0.1015	.	273	P22680	CP7A1_HUMAN	P	273	ENSP00000301645:L273P	ENSP00000301645:L273P	L	-	2	0	CYP7A1	59571807	0.081000	0.21417	0.001000	0.08648	0.680000	0.39746	1.216000	0.32443	-0.622000	0.05626	0.383000	0.25322	CTG	CYP7A1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000167910		0.483	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP7A1	HGNC	protein_coding	OTTHUMT00000378190.1	174	0.00	0	A	NM_000780		59409253	59409253	-1	no_errors	ENST00000301645	ensembl	human	known	69_37n	missense	149	17.68	32	SNP	0.142	G
CYR61	3491	genome.wustl.edu	37	1	86048149	86048149	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:86048149T>C	ENST00000451137.2	+	4	909	c.685T>C	c.(685-687)Tgt>Cgt	p.C229R		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	229	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|chorio-allantoic fusion (GO:0060710)|extracellular matrix organization (GO:0030198)|intussusceptive angiogenesis (GO:0002041)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of apoptotic process (GO:0043066)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of ERK1 and ERK2 cascade (GO:0070372)|ventricular septum development (GO:0003281)|wound healing, spreading of cells (GO:0044319)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		AGGCCAGAAATGTATTGTTCA	0.458											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													88.0	83.0	85.0					1																	86048149		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF031385	CCDS706.1	1p22.3	2008-02-05			ENSG00000142871	ENSG00000142871			2654	protein-coding gene	gene with protein product		602369		IGFBP10		9135077	Standard	NM_001554		Approved	GIG1, CCN1	uc001dle.3	O00622	OTTHUMG00000010577	ENST00000451137.2:c.685T>C	1.37:g.86048149T>C	ENSP00000398736:p.Cys229Arg	1241	O14934|O43775|Q9BZL7	Missense_Mutation	SNP	pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.C229R	ENST00000451137.2	37	c.685	CCDS706.1	1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.756534	0.69648	.	.	ENSG00000142871	ENST00000451137;ENST00000536321;ENST00000360431	T	0.61040	0.14	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.81168	0.4766	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86978	0.2102	10	0.87932	D	0	-8.3026	16.6438	0.85155	0.0:0.0:0.0:1.0	.	229	O00622	CYR61_HUMAN	R	229;205;229	ENSP00000398736:C229R	ENSP00000353612:C229R	C	+	1	0	CYR61	85820737	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.026000	0.88783	2.333000	0.79357	0.533000	0.62120	TGT	CYR61	-	superfamily_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt	ENSG00000142871		0.458	CYR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYR61	HGNC	protein_coding	OTTHUMT00000029187.1	103	0.00	0	T	NM_001554		86048149	86048149	+1	no_errors	ENST00000451137	ensembl	human	known	69_37n	missense	167	12.95	25	SNP	1.000	C
DAGLA	747	genome.wustl.edu	37	11	61490938	61490938	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:61490938A>G	ENST00000257215.5	+	5	558	c.442A>G	c.(442-444)Agt>Ggt	p.S148G		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	148					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		AGTCATCCTCAGTGTGTGCAT	0.602																																						dbGAP											0													161.0	130.0	141.0					11																	61490938		2202	4299	6501	-	-	-	SO:0001583	missense	0			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.442A>G	11.37:g.61490938A>G	ENSP00000257215:p.Ser148Gly		A7E233|Q6WQJ0	Missense_Mutation	SNP	pfam_Lipase_3	p.S148G	ENST00000257215.5	37	c.442	CCDS31578.1	11	.	.	.	.	.	.	.	.	.	.	A	18.32	3.597958	0.66332	.	.	ENSG00000134780	ENST00000257215	T	0.25912	1.77	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.29256	0.0728	M	0.67397	2.05	0.58432	D	0.999999	B	0.15141	0.012	B	0.19946	0.027	T	0.06789	-1.0807	10	0.26408	T	0.33	-21.3657	14.4711	0.67517	1.0:0.0:0.0:0.0	.	148	Q9Y4D2	DGLA_HUMAN	G	148	ENSP00000257215:S148G	ENSP00000257215:S148G	S	+	1	0	DAGLA	61247514	1.000000	0.71417	0.949000	0.38748	0.975000	0.68041	7.239000	0.78182	1.891000	0.54761	0.459000	0.35465	AGT	DAGLA	-	NULL	ENSG00000134780		0.602	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	HGNC	protein_coding	OTTHUMT00000398516.1	159	0.00	0	A	NM_006133		61490938	61490938	+1	no_errors	ENST00000257215	ensembl	human	known	69_37n	missense	205	13.81	33	SNP	1.000	G
DCAF11	80344	genome.wustl.edu	37	14	24587674	24587674	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:24587674T>C	ENST00000446197.3	+	7	1382	c.655T>C	c.(655-657)Tgg>Cgg	p.W219R	DCAF11_ENST00000559115.1_Missense_Mutation_p.W219R|DCAF11_ENST00000396936.1_Missense_Mutation_p.W119R|DCAF11_ENST00000560171.1_3'UTR|RP11-468E2.6_ENST00000558325.1_5'Flank|DCAF11_ENST00000396941.4_Missense_Mutation_p.W193R	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	219					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											CGACGTAGGCTGGAGCGTCTT	0.522																																						dbGAP											0													123.0	113.0	116.0					14																	24587674		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.655T>C	14.37:g.24587674T>C	ENSP00000415556:p.Trp219Arg		B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.W219R	ENST00000446197.3	37	c.655	CCDS9610.1	14	.	.	.	.	.	.	.	.	.	.	t	20.6	4.017029	0.75161	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.75704	0.82;-0.96	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87904	0.6295	M	0.93898	3.47	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.998;0.998	D	0.87493	0.2428	10	0.15499	T	0.54	-11.9079	13.2152	0.59856	0.0:0.0:0.0:1.0	.	142;193;119;219;219	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	R	219;193;119;193	ENSP00000380142:W119R;ENSP00000380146:W193R	ENSP00000323680:W219R	W	+	1	0	DCAF11	23657514	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	6.542000	0.73869	2.216000	0.71823	0.533000	0.62120	TGG	DCAF11	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat_dom	ENSG00000100897		0.522	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF11	HGNC	protein_coding	OTTHUMT00000071907.4	218	0.00	0	T			24587674	24587674	+1	no_errors	ENST00000446197	ensembl	human	known	69_37n	missense	199	16.03	38	SNP	1.000	C
DCLK2	166614	genome.wustl.edu	37	4	151119189	151119189	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:151119189T>C	ENST00000296550.7	+	4	1649	c.895T>C	c.(895-897)Tca>Cca	p.S299P	DCLK2_ENST00000506325.1_Missense_Mutation_p.S299P|DCLK2_ENST00000507694.1_3'UTR|DCLK2_ENST00000302176.8_Missense_Mutation_p.S299P	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	299	Ser-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TTCTCGATCCTCAGCTGTTAA	0.408																																					GBM(195;186 2215 13375 16801 37459)	dbGAP											0													123.0	118.0	120.0					4																	151119189		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.895T>C	4.37:g.151119189T>C	ENSP00000296550:p.Ser299Pro		C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom	p.S299P	ENST00000296550.7	37	c.895	CCDS34076.1	4	.	.	.	.	.	.	.	.	.	.	T	13.55	2.270525	0.40194	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.68479	-0.29;-0.33;-0.25	5.52	3.14	0.36123	Doublecortin domain (1);	0.737176	0.12725	N	0.444381	T	0.40743	0.1129	N	0.10916	0.065	0.37757	D	0.926187	B;B;B	0.13594	0.008;0.001;0.001	B;B;B	0.13407	0.009;0.003;0.003	T	0.32322	-0.9911	10	0.26408	T	0.33	.	2.4188	0.04443	0.0:0.2411:0.282:0.4769	.	299;299;299	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	P	299	ENSP00000296550:S299P;ENSP00000427235:S299P;ENSP00000303887:S299P	ENSP00000296550:S299P	S	+	1	0	DCLK2	151338639	0.968000	0.33430	0.971000	0.41717	0.952000	0.60782	0.639000	0.24690	0.921000	0.36994	0.523000	0.50628	TCA	DCLK2	-	superfamily_Doublecortin_dom	ENSG00000170390		0.408	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCLK2	HGNC	protein_coding	OTTHUMT00000364952.1	196	0.00	0	T	NM_001040260		151119189	151119189	+1	no_errors	ENST00000302176	ensembl	human	known	69_37n	missense	30	11.76	4	SNP	0.898	C
DCP1B	196513	genome.wustl.edu	37	12	2061735	2061735	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:2061735C>G	ENST00000280665.6	-	7	1450	c.1371G>C	c.(1369-1371)caG>caC	p.Q457H	DCP1B_ENST00000540622.1_Missense_Mutation_p.Q331H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q355H|DCP1B_ENST00000541700.1_5'Flank	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	457					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			GCTGTACAATCTGAAGCTTCT	0.547																																						dbGAP											0													109.0	109.0	109.0					12																	2061735		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.1371G>C	12.37:g.2061735C>G	ENSP00000280665:p.Gln457His		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	pfam_DCP1	p.Q457H	ENST00000280665.6	37	c.1371	CCDS31727.1	12	.	.	.	.	.	.	.	.	.	.	C	10.11	1.260604	0.23051	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.21191	2.1;2.08;2.02	4.66	3.75	0.43078	.	0.359863	0.29053	N	0.013298	T	0.19725	0.0474	L	0.56769	1.78	0.29914	N	0.823321	B;B	0.18741	0.03;0.028	B;B	0.14023	0.007;0.01	T	0.07731	-1.0757	10	0.59425	D	0.04	-8.9274	7.5133	0.27585	0.1627:0.751:0.0:0.0862	.	355;457	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	457;355;331	ENSP00000280665:Q457H;ENSP00000380358:Q355H;ENSP00000444374:Q331H	ENSP00000280665:Q457H	Q	-	3	2	DCP1B	1931996	0.510000	0.26171	0.428000	0.26697	0.009000	0.06853	0.911000	0.28584	2.405000	0.81733	0.609000	0.83330	CAG	DCP1B	-	NULL	ENSG00000151065		0.547	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCP1B	HGNC	protein_coding	OTTHUMT00000398244.1	150	0.00	0	C	NM_152640		2061735	2061735	-1	no_errors	ENST00000280665	ensembl	human	known	69_37n	missense	62	28.74	25	SNP	0.679	G
DDB1	1642	genome.wustl.edu	37	11	61093160	61093160	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:61093160delC	ENST00000301764.7	-	6	1082	c.685delG	c.(685-687)gccfs	p.A229fs	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	229	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ATGATGATGGCCCCCCCAAAG	0.493								Nucleotide excision repair (NER)																														dbGAP											0													80.0	77.0	78.0					11																	61093160		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.685delG	11.37:g.61093160delC	ENSP00000301764:p.Ala229fs		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Frame_Shift_Del	DEL	pfam_Cleavage/polyA-sp_fac_asu_C	p.A229fs	ENST00000301764.7	37	c.685	CCDS31576.1	11																																																																																			DDB1	-	NULL	ENSG00000167986		0.493	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DDB1	HGNC	protein_coding	OTTHUMT00000398816.1	144	0.00	0	C	NM_001923		61093160	61093160	-1	no_errors	ENST00000301764	ensembl	human	known	69_37n	frame_shift_del	87	10.10	10	DEL	1.000	-
DDX24	57062	genome.wustl.edu	37	14	94526827	94526827	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:94526827G>A	ENST00000330836.5	-	5	1661	c.1530C>T	c.(1528-1530)ctC>ctT	p.L510L	DDX24_ENST00000544005.1_Silent_p.L260L|DDX24_ENST00000555054.1_Silent_p.L467L	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	510	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GCACCAGGGTGAGTGTGGCAG	0.453																																						dbGAP											0													183.0	168.0	173.0					14																	94526827		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.1530C>T	14.37:g.94526827G>A			E7EMJ4|Q4V9L5	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L510	ENST00000330836.5	37	c.1530	CCDS9918.1	14																																																																																			DDX24	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000089737		0.453	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX24	HGNC	protein_coding	OTTHUMT00000412861.1	273	0.00	0	G	NM_020414		94526827	94526827	-1	no_errors	ENST00000330836	ensembl	human	known	69_37n	silent	87	13.86	14	SNP	1.000	A
DDX39A	10212	genome.wustl.edu	37	19	14519849	14519849	+	Splice_Site	SNP	T	T	G	rs373517700		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:14519849T>G	ENST00000242776.4	-	10	1368	c.1267A>C	c.(1267-1269)Atc>Ctc	p.I423L	DDX39A_ENST00000592927.1_5'Flank|CTC-548K16.5_ENST00000590626.1_RNA	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	423					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						AGGCACTTACTGTATGTGGAG	0.537																																						dbGAP											0													124.0	123.0	124.0					19																	14519849		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U90426	CCDS12308.1	19p13.12	2011-02-08	2011-02-08	2011-02-08	ENSG00000123136	ENSG00000123136		"""DEAD-boxes"""	17821	protein-coding gene	gene with protein product	"""UAP56-related helicase, 49 kDa"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 39"""	DDX39		7601445	Standard	NM_005804		Approved	DDXL, BAT1L, URH49	uc002myo.3	O00148		ENST00000242776.4:c.1267+1A>C	19.37:g.14519849T>G			Q8N5M0|Q9BVP6|Q9H5W0	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.I423L	ENST00000242776.4	37	c.1267	CCDS12308.1	19	.	.	.	.	.	.	.	.	.	.	T	13.81	2.346992	0.41599	.	.	ENSG00000123136	ENST00000451994;ENST00000242776	T	0.29917	1.55	4.92	4.92	0.64577	.	0.189577	0.43919	D	0.000514	T	0.25044	0.0608	L	0.39397	1.21	0.80722	D	1	B	0.02656	0.0	B	0.12156	0.007	T	0.05053	-1.0909	9	.	.	.	-7.0828	12.5376	0.56150	0.0:0.0:0.0:1.0	.	423	O00148	DX39A_HUMAN	L	466;423	ENSP00000242776:I423L	.	I	-	1	0	DDX39A	14380849	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	7.088000	0.76901	2.073000	0.62155	0.459000	0.35465	ATC	DDX39A	-	NULL	ENSG00000123136		0.537	DDX39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX39A	HGNC	protein_coding	OTTHUMT00000459880.1	149	0.00	0	T	NM_138998	Missense_Mutation	14519849	14519849	-1	no_errors	ENST00000242776	ensembl	human	known	69_37n	missense	277	13.98	45	SNP	1.000	G
DDX55	57696	genome.wustl.edu	37	12	124103306	124103306	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:124103306G>C	ENST00000238146.4	+	12	1305	c.1255G>C	c.(1255-1257)Gaa>Caa	p.E419Q	DDX55_ENST00000421670.3_Missense_Mutation_p.E26Q|DDX55_ENST00000541259.1_Intron|SNORA9_ENST00000384170.1_RNA|DDX55_ENST00000538744.1_Missense_Mutation_p.E388Q	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	419						membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		AGCTGTGTTTGAAAAGGGCAT	0.473											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													156.0	140.0	145.0					12																	124103306		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1255G>C	12.37:g.124103306G>C	ENSP00000238146:p.Glu419Gln	1531	Q658L6|Q8IYH0|Q9HCH7	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E419Q	ENST00000238146.4	37	c.1255	CCDS9251.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.317177	0.95682	.	.	ENSG00000111364	ENST00000238146;ENST00000538744;ENST00000421670	T;T;T	0.50548	3.9;3.55;0.74	6.06	6.06	0.98353	.	0.197964	0.53938	D	0.000060	T	0.70272	0.3205	M	0.76574	2.34	0.80722	D	1	P;D	0.69078	0.767;0.997	P;D	0.68765	0.685;0.96	T	0.67837	-0.5567	10	0.48119	T	0.1	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	419;388	Q8NHQ9;F5H5U2	DDX55_HUMAN;.	Q	419;388;26	ENSP00000238146:E419Q;ENSP00000443114:E388Q;ENSP00000442332:E26Q	ENSP00000238146:E419Q	E	+	1	0	DDX55	122669259	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.623000	0.98386	2.882000	0.98803	0.655000	0.94253	GAA	DDX55	-	NULL	ENSG00000111364		0.473	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX55	HGNC	protein_coding	OTTHUMT00000400616.2	297	0.00	0	G			124103306	124103306	+1	no_errors	ENST00000238146	ensembl	human	known	69_37n	missense	136	25.14	46	SNP	1.000	C
DECR1	1666	genome.wustl.edu	37	8	91029453	91029453	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:91029453T>G	ENST00000220764.2	+	2	259	c.171T>G	c.(169-171)ttT>ttG	p.F57L	DECR1_ENST00000519007.1_3'UTR|DECR1_ENST00000522161.1_Missense_Mutation_p.F48L	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	57					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CTAATAGTTTTCAAGGAAAAG	0.413																																						dbGAP											0													90.0	95.0	93.0					8																	91029453		2203	4300	6503	-	-	-	SO:0001583	missense	0			L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2753	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 18C, member 1"""	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.171T>G	8.37:g.91029453T>G	ENSP00000220764:p.Phe57Leu		B7Z6B8|Q2M304|Q93085	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH	p.F57L	ENST00000220764.2	37	c.171	CCDS6250.1	8	.	.	.	.	.	.	.	.	.	.	T	11.57	1.677979	0.29783	.	.	ENSG00000104325	ENST00000220764;ENST00000519410;ENST00000522161;ENST00000517761;ENST00000520227	T;T;T;T;T	0.80824	-1.16;-1.42;-1.31;-1.3;-1.09	5.88	3.51	0.40186	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.70753	0.3260	L	0.53249	1.67	0.58432	D	0.999996	B;B	0.19445	0.036;0.028	B;B	0.23275	0.045;0.027	T	0.57802	-0.7748	10	0.06099	T	0.92	.	8.9	0.35487	0.0:0.3368:0.0:0.6632	.	48;57	B7Z6B8;Q16698	.;DECR_HUMAN	L	57;35;48;48;7	ENSP00000220764:F57L;ENSP00000430561:F35L;ENSP00000429779:F48L;ENSP00000427936:F48L;ENSP00000429096:F7L	ENSP00000220764:F57L	F	+	3	2	DECR1	91098629	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.435000	0.34969	0.491000	0.27793	0.533000	0.62120	TTT	DECR1	-	NULL	ENSG00000104325		0.413	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DECR1	HGNC	protein_coding	OTTHUMT00000375822.1	147	0.00	0	T			91029453	91029453	+1	no_errors	ENST00000220764	ensembl	human	known	69_37n	missense	18	14.29	3	SNP	1.000	G
DEFB125	245938	genome.wustl.edu	37	20	77029	77031	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:77029_77031delCCT	ENST00000382410.2	+	2	442_444	c.442_444delCCT	c.(442-444)cctdel	p.P148del	DEFB125_ENST00000608838.1_3'UTR	NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	148					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			TATGCCACCACCTTCTCAGACAG	0.429																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AA935636	CCDS12989.2	20p13	2008-07-17			ENSG00000178591	ENSG00000178591		"""Defensins, beta"""	18105	protein-coding gene	gene with protein product	"""beta defensin 25"""					11854508	Standard	NM_153325		Approved	DEFB-25	uc002wcw.3	Q8N687	OTTHUMG00000031614	ENST00000382410.2:c.442_444delCCT	20.37:g.77029_77031delCCT	ENSP00000371847:p.Pro148del		A1A502|Q7Z7B9	In_Frame_Del	DEL	NULL	p.P148in_frame_del	ENST00000382410.2	37	c.442_444	CCDS12989.2	20																																																																																			DEFB125	-	NULL	ENSG00000178591		0.429	DEFB125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB125	HGNC	protein_coding	OTTHUMT00000077426.2	150	0.00	0	CCT	NM_153325		77029	77031	+1	no_errors	ENST00000382410	ensembl	human	known	69_37n	in_frame_del	60	11.76	8	DEL	0.000:0.000:0.000	-
DEFB121	245934	genome.wustl.edu	37	20	29993906	29993906	+	Missense_Mutation	SNP	A	A	G	rs149744379		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:29993906A>G	ENST00000376314.2	-	1	163	c.50T>C	c.(49-51)gTc>gCc	p.V17A	DEFB121_ENST00000376312.3_Intron	NM_001011878.2	NP_001011878.1	Q5J5C9	DB121_HUMAN	defensin, beta 121	17					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				large_intestine(1)|lung(1)	2	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ACCTGGGGTGACCTGGGCCAG	0.507																																						dbGAP											0													85.0	76.0	79.0					20																	29993906		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI476463	CCDS33456.1	20q11.1	2008-07-17			ENSG00000204548	ENSG00000204548		"""Defensins, beta"""	18101	protein-coding gene	gene with protein product	"""defensin, beta 21"""					11854508	Standard	NM_001011878		Approved	DEFB-21	uc021wbq.1	Q5J5C9	OTTHUMG00000032171	ENST00000376314.2:c.50T>C	20.37:g.29993906A>G	ENSP00000417128:p.Val17Ala		A1L4N1	Missense_Mutation	SNP	NULL	p.V17A	ENST00000376314.2	37	c.50	CCDS33456.1	20	.	.	.	.	.	.	.	.	.	.	A	10.04	1.242137	0.22796	.	.	ENSG00000204548	ENST00000376314	T	0.11930	2.73	3.93	0.419	0.16438	.	0.791492	0.10316	N	0.689323	T	0.08403	0.0209	.	.	.	0.09310	N	1	B	0.27997	0.197	B	0.19148	0.024	T	0.32613	-0.9900	9	0.72032	D	0.01	1.1461	3.5322	0.07781	0.6018:0.203:0.1952:0.0	.	17	Q5J5C9	DB121_HUMAN	A	17	ENSP00000417128:V17A	ENSP00000417128:V17A	V	-	2	0	DEFB121	29457567	0.027000	0.19231	0.010000	0.14722	0.973000	0.67179	0.437000	0.21543	0.041000	0.15688	0.455000	0.32223	GTC	DEFB121	-	NULL	ENSG00000204548		0.507	DEFB121-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB121	HGNC	protein_coding	OTTHUMT00000354404.1	168	0.00	0	A	NM_001011878		29993906	29993906	-1	no_errors	ENST00000376314	ensembl	human	known	69_37n	missense	35	25.53	12	SNP	0.012	G
DENND2A	27147	genome.wustl.edu	37	7	140244491	140244491	+	Missense_Mutation	SNP	C	C	T	rs374348351		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:140244491C>T	ENST00000275884.6	-	13	2671	c.2254G>A	c.(2254-2256)Gtc>Atc	p.V752I	DENND2A_ENST00000492720.1_Missense_Mutation_p.V752I|DENND2A_ENST00000537639.1_Missense_Mutation_p.V752I|DENND2A_ENST00000496613.1_Missense_Mutation_p.V752I			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	752	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					AGGTGGCGGACGCTGAGGGAG	0.592																																						dbGAP											0													45.0	55.0	52.0					7																	140244491		2175	4276	6451	-	-	-	SO:0001583	missense	0			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.2254G>A	7.37:g.140244491C>T	ENSP00000275884:p.Val752Ile		C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.V752I	ENST00000275884.6	37	c.2254	CCDS43659.1	7	.	.	.	.	.	.	.	.	.	.	C	14.55	2.567748	0.45798	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000469373;ENST00000492720	T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85	4.95	2.13	0.27403	DENN (3);	0.180616	0.37906	N	0.001883	T	0.06872	0.0175	N	0.21194	0.64	0.32805	D	0.500626	B;B	0.22909	0.077;0.006	B;B	0.21151	0.018;0.033	T	0.12116	-1.0560	10	0.38643	T	0.18	-21.6398	8.3473	0.32281	0.0:0.6218:0.0:0.3782	.	752;752	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	I	752;752;752;99;752	ENSP00000275884:V752I;ENSP00000442245:V752I;ENSP00000419654:V752I;ENSP00000420145:V99I;ENSP00000419464:V752I	ENSP00000275884:V752I	V	-	1	0	DENND2A	139890960	0.997000	0.39634	1.000000	0.80357	0.978000	0.69477	0.985000	0.29578	0.703000	0.31848	0.650000	0.86243	GTC	DENND2A	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000146966		0.592	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	HGNC	protein_coding	OTTHUMT00000348742.1	117	0.00	0	C	NM_015689		140244491	140244491	-1	no_errors	ENST00000275884	ensembl	human	known	69_37n	missense	111	11.81	15	SNP	0.998	T
DENND4A	10260	genome.wustl.edu	37	15	66044753	66044753	+	Silent	SNP	C	C	T	rs201670474		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:66044753C>T	ENST00000431932.2	-	4	733	c.525G>A	c.(523-525)acG>acA	p.T175T	DENND4A_ENST00000443035.3_Silent_p.T175T	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	175	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTTTGCAGAACGTGTGTGGTG	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		12497	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													98.0	91.0	94.0					15																	66044753		1916	4128	6044	-	-	-	SO:0001819	synonymous_variant	0			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.525G>A	15.37:g.66044753C>T			E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Silent	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat	p.T175	ENST00000431932.2	37	c.525	CCDS45285.1	15																																																																																			DENND4A	-	smart_uDENN_dom,pfscan_uDENN_dom	ENSG00000174485		0.383	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4A	HGNC	protein_coding	OTTHUMT00000419611.1	317	0.00	0	C	NM_005848		66044753	66044753	-1	no_errors	ENST00000443035	ensembl	human	known	69_37n	silent	75	17.58	16	SNP	0.995	T
DENND4B	9909	genome.wustl.edu	37	1	153912082	153912082	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:153912082T>C	ENST00000361217.4	-	12	2220	c.1802A>G	c.(1801-1803)aAc>aGc	p.N601S		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	601	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GAAGAAAAGGTTGTCAACATC	0.617																																						dbGAP											0													88.0	97.0	94.0					1																	153912082		1969	4147	6116	-	-	-	SO:0001583	missense	0			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.1802A>G	1.37:g.153912082T>C	ENSP00000354597:p.Asn601Ser		Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.N601S	ENST00000361217.4	37	c.1802	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	T	4.062	0.009243	0.07912	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.39997	1.05;1.05	5.04	5.04	0.67666	dDENN (3);	0.275033	0.35615	N	0.003099	T	0.02342	0.0072	N	0.00099	-2.14	0.38941	D	0.958158	B	0.13594	0.008	B	0.17433	0.018	T	0.48885	-0.8995	10	0.02654	T	1	-22.6217	6.162	0.20370	0.0:0.1749:0.0:0.8251	.	601	O75064	DEN4B_HUMAN	S	601;612	ENSP00000354597:N601S;ENSP00000357635:N612S	ENSP00000354597:N601S	N	-	2	0	DENND4B	152178706	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.366000	0.34193	2.127000	0.65507	0.379000	0.24179	AAC	DENND4B	-	pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom	ENSG00000198837		0.617	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	74	0.00	0	T	XM_375806		153912082	153912082	-1	no_errors	ENST00000361217	ensembl	human	known	69_37n	missense	99	10.00	11	SNP	1.000	C
DGCR14	8220	genome.wustl.edu	37	22	19121972	19121972	+	Missense_Mutation	SNP	G	G	T	rs146152930		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr22:19121972G>T	ENST00000252137.6	-	10	1211	c.1168C>A	c.(1168-1170)Ctg>Atg	p.L390M		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	390					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GCTGGGCTCAGGCCTTTGGGG	0.672																																						dbGAP											0													46.0	45.0	45.0					22																	19121972		2203	4300	6503	-	-	-	SO:0001583	missense	0			L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.1168C>A	22.37:g.19121972G>T	ENSP00000252137:p.Leu390Met		Q49AH7|Q9BTZ4	Missense_Mutation	SNP	pfam_Nuclear_protein_DGCR14	p.L390M	ENST00000252137.6	37	c.1168	CCDS13756.1	22	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193112	0.38707	.	.	ENSG00000100056	ENST00000252137	T	0.52295	0.67	5.14	4.09	0.47781	.	0.000000	0.64402	D	0.000001	T	0.66674	0.2813	M	0.75264	2.295	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.67039	-0.5771	10	0.38643	T	0.18	-15.8924	13.7095	0.62659	0.0766:0.0:0.9234:0.0	.	390	Q96DF8	DGC14_HUMAN	M	390	ENSP00000252137:L390M	ENSP00000252137:L390M	L	-	1	2	DGCR14	17501972	1.000000	0.71417	1.000000	0.80357	0.284000	0.27059	3.752000	0.55172	1.135000	0.42183	0.555000	0.69702	CTG	DGCR14	-	pfam_Nuclear_protein_DGCR14	ENSG00000100056		0.672	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR14	HGNC	protein_coding	OTTHUMT00000316432.2	129	0.00	0	G			19121972	19121972	-1	no_errors	ENST00000252137	ensembl	human	known	69_37n	missense	162	17.68	35	SNP	1.000	T
DEPDC5	9681	genome.wustl.edu	37	22	32272192	32272192	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr22:32272192G>A	ENST00000382112.3	+	36	3789	c.3719G>A	c.(3718-3720)cGg>cAg	p.R1240Q	DEPDC5_ENST00000539165.1_Missense_Mutation_p.R66Q|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R1149Q|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R1227Q|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R1218Q|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R1249Q|DEPDC5_ENST00000400246.1_Missense_Mutation_p.R1249Q|DEPDC5_ENST00000400248.2_Missense_Mutation_p.R1218Q	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1249	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GAAGCCTGGCGGACCTTCATC	0.517																																						dbGAP											0													161.0	155.0	157.0					22																	32272192		1905	4133	6038	-	-	-	SO:0001583	missense	0			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3719G>A	22.37:g.32272192G>A	ENSP00000371546:p.Arg1240Gln		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.R1227Q	ENST00000382112.3	37	c.3680	CCDS46692.1	22	.	.	.	.	.	.	.	.	.	.	g	23.6	4.436983	0.83885	.	.	ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165	T;T;T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05	5.27	4.26	0.50523	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.067862	0.64402	N	0.000018	T	0.31575	0.0801	L	0.29908	0.895	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999;0.999	D;D;D;D;D;D	0.85130	0.994;0.997;0.996;0.99;0.994;0.994	T	0.02457	-1.1156	10	0.25751	T	0.34	.	12.9668	0.58488	0.078:0.0:0.922:0.0	.	1249;1149;635;1227;1240;1218	B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.;.;.;.;.;DEPD5_HUMAN	Q	1149;1227;1218;1149;1249;1240;1249;1218;66	ENSP00000440210:R1149Q;ENSP00000266091:R1227Q;ENSP00000383108:R1218Q;ENSP00000383105:R1249Q;ENSP00000371546:R1240Q;ENSP00000371545:R1249Q;ENSP00000383107:R1218Q;ENSP00000446286:R66Q	ENSP00000266091:R1227Q	R	+	2	0	DEPDC5	30602192	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.737000	0.91562	1.233000	0.43693	0.645000	0.84053	CGG	DEPDC5	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	ENSG00000100150		0.517	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1	58	0.00	0	G	NM_014662		32272192	32272192	+1	no_errors	ENST00000266091	ensembl	human	known	69_37n	missense	39	23.53	12	SNP	1.000	A
DHX34	9704	genome.wustl.edu	37	19	47883015	47883015	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:47883015C>T	ENST00000328771.4	+	14	3104	c.2755C>T	c.(2755-2757)Cgc>Tgc	p.R919C		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	919					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TGACTGCTCCCGCCTGGTGGC	0.632																																						dbGAP											0													78.0	71.0	73.0					19																	47883015		2203	4300	6503	-	-	-	SO:0001583	missense	0			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2755C>T	19.37:g.47883015C>T	ENSP00000331907:p.Arg919Cys		B4DMY8	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R919C	ENST00000328771.4	37	c.2755	CCDS12700.1	19	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745448	0.89663	.	.	ENSG00000134815	ENST00000328771	T	0.03689	3.84	3.91	3.91	0.45181	.	0.000000	0.52532	D	0.000066	T	0.12135	0.0295	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	P	0.61275	0.886	T	0.01456	-1.1350	10	0.87932	D	0	-26.57	14.8189	0.70055	0.0:1.0:0.0:0.0	.	919	Q14147	DHX34_HUMAN	C	919	ENSP00000331907:R919C	ENSP00000331907:R919C	R	+	1	0	DHX34	52574846	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.824000	0.75288	2.016000	0.59253	0.561000	0.74099	CGC	DHX34	-	NULL	ENSG00000134815		0.632	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX34	HGNC	protein_coding	OTTHUMT00000314313.3	56	0.00	0	C	NM_014681		47883015	47883015	+1	no_errors	ENST00000328771	ensembl	human	known	69_37n	missense	104	11.02	13	SNP	1.000	T
DHX8	1659	genome.wustl.edu	37	17	41598850	41598850	+	Silent	SNP	A	A	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:41598850A>C	ENST00000262415.3	+	21	3252	c.3180A>C	c.(3178-3180)ccA>ccC	p.P1060P	DHX8_ENST00000540306.1_Silent_p.P1060P	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1060					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TCTCCAACCCATGGTGCTATG	0.512																																					NSCLC(56;1548 1661 49258 49987)	dbGAP											0													129.0	101.0	111.0					17																	41598850		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.3180A>C	17.37:g.41598850A>C				Silent	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P1060	ENST00000262415.3	37	c.3180	CCDS11464.1	17																																																																																			DHX8	-	NULL	ENSG00000067596		0.512	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX8	HGNC	protein_coding	OTTHUMT00000453485.1	162	0.00	0	A			41598850	41598850	+1	no_errors	ENST00000262415	ensembl	human	known	69_37n	silent	49	10.91	6	SNP	0.019	C
DIDO1	11083	genome.wustl.edu	37	20	61542562	61542562	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:61542562G>A	ENST00000266070.4	-	3	728	c.403C>T	c.(403-405)Cga>Tga	p.R135*	DIDO1_ENST00000395335.2_Nonsense_Mutation_p.R135*|DIDO1_ENST00000370368.1_Nonsense_Mutation_p.R135*|DIDO1_ENST00000354665.4_Nonsense_Mutation_p.R135*|DIDO1_ENST00000370371.4_Nonsense_Mutation_p.R135*|DIDO1_ENST00000395343.1_Nonsense_Mutation_p.R135*|DIDO1_ENST00000370366.1_Nonsense_Mutation_p.R135*|DIDO1_ENST00000266071.5_Nonsense_Mutation_p.R135*|DIDO1_ENST00000395340.1_Nonsense_Mutation_p.R135*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	135					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAGGCTGGTCGTTCCTTCACA	0.592																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	dbGAP											0													70.0	49.0	56.0					20																	61542562		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.403C>T	20.37:g.61542562G>A	ENSP00000266070:p.Arg135*		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Nonsense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.R135*	ENST00000266070.4	37	c.403	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098701	0.76870	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	.	.	.	5.31	3.3	0.37823	.	1.136850	0.06927	U	0.810341	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-2.9216	5.8336	0.18594	0.0726:0.1393:0.6433:0.1449	.	.	.	.	X	135	.	ENSP00000266070:R135X	R	-	1	2	DIDO1	61013007	0.018000	0.18449	0.000000	0.03702	0.054000	0.15201	2.046000	0.41260	0.580000	0.29522	0.561000	0.74099	CGA	DIDO1	-	NULL	ENSG00000101191		0.592	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	22	0.00	0	G	NM_080796		61542562	61542562	-1	no_errors	ENST00000266070	ensembl	human	known	69_37n	nonsense	58	23.68	18	SNP	0.001	A
DIP2C	22982	genome.wustl.edu	37	10	402276	402276	+	Intron	SNP	A	A	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:402276A>C	ENST00000280886.6	-	24	3073				DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Silent_p.P346P	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)							nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGAAGCAAAAGGATTCAAAG	0.468																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2985+89T>G	10.37:g.402276A>C			B4DPI5|Q5SS78	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.P346	ENST00000280886.6	37	c.1038	CCDS7054.1	10																																																																																			DIP2C	-	NULL	ENSG00000151240		0.468	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2C	HGNC	protein_coding	OTTHUMT00000046389.1	17	0.00	0	A	NM_014974		402276	402276	-1	no_errors	ENST00000540204	ensembl	human	known	69_37n	silent	49	16.95	10	SNP	0.000	C
DIP2C	22982	genome.wustl.edu	37	10	445105	445105	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:445105C>T	ENST00000280886.6	-	10	1291	c.1204G>A	c.(1204-1206)Ggc>Agc	p.G402S	DIP2C_ENST00000381496.3_Missense_Mutation_p.G295S	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	402						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGCAGGCAGCCGTAGAAAGCC	0.627																																						dbGAP											0													69.0	61.0	64.0					10																	445105		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.1204G>A	10.37:g.445105C>T	ENSP00000280886:p.Gly402Ser		B4DPI5|Q5SS78	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.G402S	ENST00000280886.6	37	c.1204	CCDS7054.1	10	.	.	.	.	.	.	.	.	.	.	c	24.8	4.569444	0.86439	.	.	ENSG00000151240	ENST00000280886;ENST00000381496	T;T	0.14766	2.48;2.48	5.58	5.58	0.84498	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.46210	0.1381	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.52003	-0.8633	10	0.87932	D	0	-28.6791	19.1746	0.93599	0.0:1.0:0.0:0.0	.	295;402	E7EPU2;Q9Y2E4	.;DIP2C_HUMAN	S	402;295	ENSP00000280886:G402S;ENSP00000370907:G295S	ENSP00000280886:G402S	G	-	1	0	DIP2C	435105	1.000000	0.71417	0.988000	0.46212	0.068000	0.16541	7.570000	0.82390	2.623000	0.88846	0.558000	0.71614	GGC	DIP2C	-	pfam_AMP-dep_Synth/Lig	ENSG00000151240		0.627	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2C	HGNC	protein_coding	OTTHUMT00000046389.1	144	0.00	0	C	NM_014974		445105	445105	-1	no_errors	ENST00000280886	ensembl	human	known	69_37n	missense	102	12.82	15	SNP	1.000	T
DLL3	10683	genome.wustl.edu	37	19	39995902	39995902	+	Missense_Mutation	SNP	C	C	T	rs538488581		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:39995902C>T	ENST00000205143.4	+	6	911	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C	DLL3_ENST00000356433.5_Missense_Mutation_p.R302C	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	302	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CACCTGCCCGCGTGGGTTCTA	0.597													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20037	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													104.0	89.0	94.0					19																	39995902		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"""delta (Drosophila)-like 3"""			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.904C>T	19.37:g.39995902C>T	ENSP00000205143:p.Arg302Cys		E9PFG2|Q8NBS4	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Notch_ligand_N,pfam_EGF_extracell,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.R302C	ENST00000205143.4	37	c.904	CCDS12538.1	19	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618821	0.66787	.	.	ENSG00000090932	ENST00000356433;ENST00000205143	D;D	0.87491	-2.26;-2.26	5.23	4.13	0.48395	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.42682	D	0.000662	D	0.92208	0.7529	M	0.73430	2.235	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.981;0.981	D	0.91942	0.5564	9	.	.	.	.	13.4951	0.61421	0.157:0.843:0.0:0.0	.	302;302;302	Q8NBS4;Q9NYJ7;E9PFG2	.;DLL3_HUMAN;.	C	302	ENSP00000348810:R302C;ENSP00000205143:R302C	.	R	+	1	0	DLL3	44687742	0.882000	0.30256	1.000000	0.80357	0.438000	0.31896	4.526000	0.60566	2.444000	0.82710	0.561000	0.74099	CGT	DLL3	-	pfam_EGF-like_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	ENSG00000090932		0.597	DLL3-002	KNOWN	basic|CCDS	protein_coding	DLL3	HGNC	protein_coding	OTTHUMT00000464958.1	355	0.00	0	C			39995902	39995902	+1	no_errors	ENST00000205143	ensembl	human	known	69_37n	missense	391	32.65	190	SNP	0.982	T
DMGDH	29958	genome.wustl.edu	37	5	78351646	78351646	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:78351646T>C	ENST00000255189.3	-	3	390	c.362A>G	c.(361-363)gAa>gGa	p.E121G	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000520388.1_5'Flank	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	121					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		ACCAGTTTCTTCTTCCAGTTT	0.353																																						dbGAP											0													94.0	96.0	95.0					5																	78351646		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.362A>G	5.37:g.78351646T>C	ENSP00000255189:p.Glu121Gly		B2RBN0|B4E1J9	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG	p.E121G	ENST00000255189.3	37	c.362	CCDS4044.1	5	.	.	.	.	.	.	.	.	.	.	T	19.41	3.821711	0.71028	.	.	ENSG00000132837	ENST00000255189	D	0.83075	-1.68	6.16	6.16	0.99307	FAD dependent oxidoreductase (1);	0.047823	0.85682	D	0.000000	D	0.84768	0.5545	M	0.67569	2.06	0.80722	D	1	B	0.32365	0.367	B	0.38921	0.285	D	0.84177	0.0437	10	0.56958	D	0.05	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	121	Q9UI17	M2GD_HUMAN	G	121	ENSP00000255189:E121G	ENSP00000255189:E121G	E	-	2	0	DMGDH	78387402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.335000	0.52105	2.367000	0.80283	0.528000	0.53228	GAA	DMGDH	-	pfam_FAD-dep_OxRdtase	ENSG00000132837		0.353	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMGDH	HGNC	protein_coding	OTTHUMT00000226963.3	150	0.00	0	T	NM_013391		78351646	78351646	-1	no_errors	ENST00000255189	ensembl	human	known	69_37n	missense	35	18.60	8	SNP	1.000	C
DMXL2	23312	genome.wustl.edu	37	15	51790768	51790768	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:51790768delG	ENST00000251076.5	-	18	4940	c.4653delC	c.(4651-4653)agcfs	p.S1551fs	DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Frame_Shift_Del_p.S1551fs	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1551						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCTTATCTCTGCTTTCATCAA	0.368																																						dbGAP											0													64.0	63.0	63.0					15																	51790768		2195	4293	6488	-	-	-	SO:0001589	frameshift_variant	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.4653delC	15.37:g.51790768delG	ENSP00000251076:p.Ser1551fs		B2RTR3|B7ZMH3|F5GWF1|O94938	Frame_Shift_Del	DEL	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1551fs	ENST00000251076.5	37	c.4653	CCDS10141.1	15																																																																																			DMXL2	-	pfam_Rav1p_C	ENSG00000104093		0.368	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	103	0.00	0	G	NM_015263		51790768	51790768	-1	no_errors	ENST00000543779	ensembl	human	known	69_37n	frame_shift_del	19	13.64	3	DEL	0.995	-
DMXL2	23312	genome.wustl.edu	37	15	51790773	51790774	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:51790773_51790774delCA	ENST00000251076.5	-	18	4934_4935	c.4647_4648delTG	c.(4645-4650)gatgaafs	p.D1549fs	DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Frame_Shift_Del_p.D1549fs	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1549						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCTCTGCTTTCATCAAGCTCAG	0.371																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.4647_4648delTG	15.37:g.51790773_51790774delCA	ENSP00000251076:p.Asp1549fs		B2RTR3|B7ZMH3|F5GWF1|O94938	Frame_Shift_Del	DEL	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D1549fs	ENST00000251076.5	37	c.4648_4647	CCDS10141.1	15																																																																																			DMXL2	-	pfam_Rav1p_C	ENSG00000104093		0.371	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	112	0.00	0	CA	NM_015263		51790773	51790774	-1	no_errors	ENST00000543779	ensembl	human	known	69_37n	frame_shift_del	22	12.00	3	DEL	1.000:1.000	-
DNAH1	25981	genome.wustl.edu	37	3	52387625	52387625	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:52387625T>C	ENST00000420323.2	+	20	3717	c.3456T>C	c.(3454-3456)gcT>gcC	p.A1152A		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1152	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGAGGTGGCTGGCAAGGAGT	0.627																																						dbGAP											0													26.0	28.0	27.0					3																	52387625		2113	4232	6345	-	-	-	SO:0001819	synonymous_variant	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.3456T>C	3.37:g.52387625T>C			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.A1152	ENST00000420323.2	37	c.3456	CCDS46842.1	3																																																																																			DNAH1	-	pfam_Dynein_heavy_dom-2	ENSG00000114841		0.627	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	93	0.00	0	T	NM_015512		52387625	52387625	+1	no_errors	ENST00000420323	ensembl	human	known	69_37n	silent	65	14.29	11	SNP	0.374	C
DNAH1	25981	genome.wustl.edu	37	3	52404816	52404816	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:52404816A>G	ENST00000420323.2	+	41	6761	c.6500A>G	c.(6499-6501)gAg>gGg	p.E2167G		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2167	Poly-Glu.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AACGACAGTGAGGATGAAGAG	0.602																																						dbGAP											0													39.0	47.0	44.0					3																	52404816		2091	4210	6301	-	-	-	SO:0001583	missense	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.6500A>G	3.37:g.52404816A>G	ENSP00000401514:p.Glu2167Gly		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.E2167G	ENST00000420323.2	37	c.6500	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	A	14.55	2.567959	0.45798	.	.	ENSG00000114841	ENST00000420323	T	0.25085	1.82	5.47	5.47	0.80525	.	0.634826	0.12625	U	0.452687	T	0.18002	0.0432	N	0.19112	0.55	0.35886	D	0.829287	B	0.09022	0.002	B	0.12156	0.007	T	0.15378	-1.0439	10	0.26408	T	0.33	.	11.3585	0.49630	0.8563:0.0:0.0:0.1437	.	2167	C9JXH6	.	G	2167	ENSP00000401514:E2167G	ENSP00000401514:E2167G	E	+	2	0	DNAH1	52379856	0.998000	0.40836	0.180000	0.23079	0.046000	0.14306	5.125000	0.64715	2.076000	0.62316	0.402000	0.26972	GAG	DNAH1	-	NULL	ENSG00000114841		0.602	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	190	0.00	0	A	NM_015512		52404816	52404816	+1	no_errors	ENST00000420323	ensembl	human	known	69_37n	missense	279	10.29	32	SNP	0.939	G
DNAH10	196385	genome.wustl.edu	37	12	124416307	124416307	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:124416307C>T	ENST00000409039.3	+	74	12712	c.12687C>T	c.(12685-12687)tcC>tcT	p.S4229S	DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4229					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGGACTCTCCCCCACTTCGG	0.522																																						dbGAP											0													99.0	98.0	99.0					12																	124416307		1957	4139	6096	-	-	-	SO:0001819	synonymous_variant	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12687C>T	12.37:g.124416307C>T			C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.S4229	ENST00000409039.3	37	c.12687	CCDS9255.2	12																																																																																			DNAH10	-	pfam_Dynein_heavy	ENSG00000197653		0.522	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	101	0.00	0	C			124416307	124416307	+1	no_errors	ENST00000409039	ensembl	human	known	69_37n	silent	81	32.50	39	SNP	0.568	T
DNAH12	201625	genome.wustl.edu	37	3	57439079	57439079	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:57439079C>T	ENST00000351747.2	-	24	3619	c.3439G>A	c.(3439-3441)Gag>Aag	p.E1147K		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	1147	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CTTACCAGCTCTACAATCTCA	0.368																																						dbGAP											0													175.0	171.0	172.0					3																	57439079		692	1591	2283	-	-	-	SO:0001583	missense	0			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.3439G>A	3.37:g.57439079C>T	ENSP00000295937:p.Glu1147Lys		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E1147K	ENST00000351747.2	37	c.3439		3	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621763	0.46840	.	.	ENSG00000174844	ENST00000351747;ENST00000495027	T;T	0.58358	0.34;0.34	5.74	4.68	0.58851	.	.	.	.	.	T	0.35422	0.0931	L	0.34521	1.04	0.80722	D	1	P	0.43094	0.799	B	0.30401	0.115	T	0.21211	-1.0252	9	0.15952	T	0.53	.	15.6334	0.76929	0.0:0.9233:0.0:0.0767	.	1147	Q6ZR08	DYH12_HUMAN	K	1147;1170	ENSP00000295937:E1147K;ENSP00000418137:E1170K	ENSP00000295937:E1147K	E	-	1	0	DNAH12	57414119	0.944000	0.32072	0.924000	0.36721	0.965000	0.64279	3.341000	0.52151	2.714000	0.92807	0.585000	0.79938	GAG	DNAH12	-	NULL	ENSG00000174844		0.368	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		123	0.00	0	C	NM_178504		57439079	57439079	-1	no_errors	ENST00000351747	ensembl	human	known	69_37n	missense	139	21.11	38	SNP	0.994	T
DNAH2	146754	genome.wustl.edu	37	17	7733997	7733997	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:7733997C>A	ENST00000572933.1	+	79	13527	c.12067C>A	c.(12067-12069)Ctc>Atc	p.L4023I	DNAH2_ENST00000389173.2_Missense_Mutation_p.L4023I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4023	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTTGCTGAGCCTCTATCTCGA	0.532																																						dbGAP											0													73.0	71.0	72.0					17																	7733997		2203	4300	6503	-	-	-	SO:0001583	missense	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12067C>A	17.37:g.7733997C>A	ENSP00000458355:p.Leu4023Ile		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.L4023I	ENST00000572933.1	37	c.12067	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789592	0.31685	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.08458	3.09	5.84	5.84	0.93424	Dynein heavy chain (1);	0.068597	0.64402	D	0.000014	T	0.07052	0.0179	N	0.16037	0.36	0.80722	D	1	B;B	0.23937	0.077;0.094	B;B	0.26864	0.051;0.074	T	0.45760	-0.9239	10	0.17832	T	0.49	.	18.9094	0.92477	0.0:1.0:0.0:0.0	.	3984;4023	Q9P225-2;Q9P225	.;DYH2_HUMAN	I	3984;4023	ENSP00000373825:L4023I	ENSP00000353818:L3984I	L	+	1	0	DNAH2	7674722	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.431000	0.52814	2.779000	0.95612	0.655000	0.94253	CTC	DNAH2	-	pfam_Dynein_heavy	ENSG00000183914		0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	159	0.00	0	C	NM_020877		7733997	7733997	+1	no_errors	ENST00000389173	ensembl	human	known	69_37n	missense	202	14.41	34	SNP	1.000	A
DNAH17	8632	genome.wustl.edu	37	17	76487614	76487614	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:76487614T>C	ENST00000585328.1	-	43	6689	c.6565A>G	c.(6565-6567)Acc>Gcc	p.T2189A	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000586052.1_5'Flank|RP11-559N14.5_ENST00000591373.1_RNA|RP11-559N14.5_ENST00000588565.1_RNA|DNAH17_ENST00000389840.5_Missense_Mutation_p.T2180A	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2180	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCGTCATGGGTGATGTTGGCC	0.607																																						dbGAP											0													113.0	123.0	120.0					17																	76487614		2092	4239	6331	-	-	-	SO:0001583	missense	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.6565A>G	17.37:g.76487614T>C	ENSP00000465516:p.Thr2189Ala		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.T2180A	ENST00000585328.1	37	c.6538		17	.	.	.	.	.	.	.	.	.	.	t	8.494	0.862638	0.17178	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.26660	1.72	4.7	3.61	0.41365	.	.	.	.	.	T	0.24160	0.0585	L	0.44542	1.39	0.32114	N	0.588974	.	.	.	.	.	.	T	0.16541	-1.0399	7	0.09843	T	0.71	.	11.5728	0.50843	0.0:0.0:0.1495:0.8505	.	.	.	.	A	2189;2180	ENSP00000374490:T2180A	ENSP00000300671:T2189A	T	-	1	0	DNAH17	73999209	1.000000	0.71417	0.996000	0.52242	0.877000	0.50540	3.013000	0.49582	0.636000	0.30508	0.338000	0.21704	ACC	DNAH17	-	pfam_ATPase_dyneun-rel_AAA	ENSG00000187775		0.607	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	448	0.22	1	T	NM_173628		76487614	76487614	-1	no_errors	ENST00000389840	ensembl	human	known	69_37n	missense	517	14.52	88	SNP	0.999	C
DNAH3	55567	genome.wustl.edu	37	16	21086873	21086873	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:21086873G>A	ENST00000261383.3	-	21	2978	c.2979C>T	c.(2977-2979)ccC>ccT	p.P993P	DNAH3_ENST00000415178.1_Silent_p.P993P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	993	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTGCACCAATGGGCTCCAATC	0.483																																						dbGAP											0													75.0	67.0	70.0					16																	21086873		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2979C>T	16.37:g.21086873G>A			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.P993	ENST00000261383.3	37	c.2979	CCDS10594.1	16																																																																																			DNAH3	-	pfam_Dynein_heavy_dom-2	ENSG00000158486		0.483	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	54	0.00	0	G	NM_017539		21086873	21086873	-1	no_errors	ENST00000261383	ensembl	human	known	69_37n	silent	28	12.50	4	SNP	0.999	A
DNAJB2	3300	genome.wustl.edu	37	2	220149662	220149662	+	Missense_Mutation	SNP	C	C	T	rs200970147	byFrequency	TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:220149662C>T	ENST00000336576.5	+	9	1216	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	DNAJB2_ENST00000392086.4_Intron	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	310					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein deubiquitination (GO:0090086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|inclusion body (GO:0016234)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCAACCAAACGCAGTCCATC	0.652													C|||	3	0.000599042	0.0	0.0	5008	,	,		17329	0.001		0.0	False		,,,				2504	0.002					dbGAP											0													23.0	24.0	24.0					2																	220149662		2196	4290	6486	-	-	-	SO:0001583	missense	0				CCDS2439.1, CCDS46519.1	2q32-q34	2011-09-02			ENSG00000135924	ENSG00000135924		"""Heat shock proteins / DNAJ (HSP40)"""	5228	protein-coding gene	gene with protein product		604139		HSJ1		1599432, 10516435	Standard	NM_006736		Approved	HSPF3	uc002vkx.1	P25686	OTTHUMG00000133134	ENST00000336576.5:c.928C>T	2.37:g.220149662C>T	ENSP00000338019:p.Arg310Cys		A8K9P6|Q8IUK1|Q8IUK2|Q96F52	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.R310C	ENST00000336576.5	37	c.928	CCDS2439.1	2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.98	2.696488	0.48202	.	.	ENSG00000135924	ENST00000336576	T	0.61980	0.06	4.18	2.34	0.29019	.	44.475500	0.00166	U	0.000000	T	0.47525	0.1450	N	0.14661	0.345	0.09310	N	1	B	0.28055	0.199	B	0.25140	0.058	T	0.43426	-0.9392	10	0.62326	D	0.03	.	6.657	0.22992	0.0:0.557:0.3447:0.0983	.	310	P25686	DNJB2_HUMAN	C	310	ENSP00000338019:R310C	ENSP00000338019:R310C	R	+	1	0	DNAJB2	219857906	0.000000	0.05858	0.001000	0.08648	0.726000	0.41606	-0.117000	0.10708	0.500000	0.27991	0.313000	0.20887	CGC	DNAJB2	-	NULL	ENSG00000135924		0.652	DNAJB2-001	KNOWN	basic|CCDS	protein_coding	DNAJB2	HGNC	protein_coding	OTTHUMT00000256823.2	45	0.00	0	C			220149662	220149662	+1	no_errors	ENST00000336576	ensembl	human	known	69_37n	missense	50	18.03	11	SNP	0.006	T
DNAJB6	10049	genome.wustl.edu	37	7	157178240	157178240	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:157178240T>C	ENST00000262177.4	+	8	831	c.626T>C	c.(625-627)gTc>gCc	p.V209A	DNAJB6_ENST00000452797.2_Missense_Mutation_p.V160A|DNAJB6_ENST00000429029.2_Missense_Mutation_p.V209A|DNAJB6_ENST00000443280.1_Intron	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	209	Interaction with KRT18.				intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TACAGAATTGTCGAGAACGGT	0.363																																					Esophageal Squamous(46;195 967 1350 20350 43814)	dbGAP											0													106.0	121.0	116.0					7																	157178240		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014888	CCDS5946.1, CCDS47755.1	7q36.3	2014-02-03			ENSG00000105993	ENSG00000105993		"""Heat shock proteins / DNAJ (HSP40)"""	14888	protein-coding gene	gene with protein product		611332	"""limb girdle muscular dystrophy 1D (autosomal dominant)"""	LGMD1D		10319584, 9915854, 22366786	Standard	NM_005494		Approved	MRJ	uc003wnk.3	O75190	OTTHUMG00000157242	ENST00000262177.4:c.626T>C	7.37:g.157178240T>C	ENSP00000262177:p.Val209Ala		A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.V209A	ENST00000262177.4	37	c.626	CCDS5946.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.86|15.86	2.956659|2.956659	0.53293|0.53293	.|.	.|.	ENSG00000105993|ENSG00000105993	ENST00000421417|ENST00000429029;ENST00000262177;ENST00000417758;ENST00000452797	.|T;T;T;T	.|0.48201	.|0.82;0.82;0.82;0.82	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.608983	.|0.13640	.|N	.|0.373037	T|T	0.56934|0.56934	0.2019|0.2019	M|M	0.86864|0.86864	2.845|2.845	0.50813|0.50813	D|D	0.999892|0.999892	.|B;B;B;B	.|0.33549	.|0.417;0.293;0.189;0.017	.|B;B;B;B	.|0.33620	.|0.167;0.079;0.079;0.022	T|T	0.58736|0.58736	-0.7584|-0.7584	6|10	0.66056|0.36615	D|T	0.02|0.2	.|.	15.4825|15.4825	0.75539|0.75539	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|160;209;209;209	.|B4DN73;A8KAG0;O75190;O75190-2	.|.;.;DNJB6_HUMAN;.	P|A	209|209;209;209;160	.|ENSP00000397556:V209A;ENSP00000262177:V209A;ENSP00000400665:V209A;ENSP00000402270:V160A	ENSP00000416129:S209P|ENSP00000262177:V209A	S|V	+|+	1|2	0|0	DNAJB6|DNAJB6	156871001|156871001	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.827000|0.827000	0.46813|0.46813	7.036000|7.036000	0.76524|0.76524	2.068000|2.068000	0.61886|0.61886	0.533000|0.533000	0.62120|0.62120	TCG|GTC	DNAJB6	-	NULL	ENSG00000105993		0.363	DNAJB6-001	KNOWN	basic|CCDS	protein_coding	DNAJB6	HGNC	protein_coding	OTTHUMT00000348119.2	64	0.00	0	T			157178240	157178240	+1	no_errors	ENST00000262177	ensembl	human	known	69_37n	missense	33	13.16	5	SNP	1.000	C
DNAJC13	23317	genome.wustl.edu	37	3	132196903	132196903	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:132196903C>T	ENST00000260818.6	+	24	2876	c.2628C>T	c.(2626-2628)gcC>gcT	p.A876A		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	876					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GTTTACAAGCCCTTGCTATTG	0.333																																						dbGAP											0													85.0	88.0	87.0					3																	132196903		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2628C>T	3.37:g.132196903C>T			Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N	p.A876	ENST00000260818.6	37	c.2628	CCDS33857.1	3																																																																																			DNAJC13	-	superfamily_ARM-type_fold	ENSG00000138246		0.333	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	98	0.00	0	C	NM_015268		132196903	132196903	+1	no_errors	ENST00000260818	ensembl	human	known	69_37n	silent	91	12.50	13	SNP	0.941	T
DNAJC14	85406	genome.wustl.edu	37	12	56221320	56221320	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:56221320G>A	ENST00000357606.3	-	3	1412	c.1123C>T	c.(1123-1125)Cag>Tag	p.Q375*	RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.A4V|DNAJC14_ENST00000317287.5_Nonsense_Mutation_p.Q375*|TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317269.3_Nonsense_Mutation_p.Q375*			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	375					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						AAGCAACGCTGCAAGGCTGGA	0.552																																						dbGAP											0													72.0	73.0	72.0					12																	56221320		2203	4300	6503	-	-	-	SO:0001587	stop_gained	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.1123C>T	12.37:g.56221320G>A	ENSP00000350223:p.Gln375*		A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Nonsense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.Q375*	ENST00000357606.3	37	c.1123	CCDS8894.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.063075|7.063075	0.98036|0.98036	.|.	.|.	ENSG00000257390|ENSG00000135392	ENST00000546837|ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287	.|.	.|.	.|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|0.397857	.|0.23654	.|N	.|0.045899	T|.	0.38799|.	0.1054|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.28299|.	-1.0048|.	3|.	.|0.02654	.|T	.|1	-2.0938|-2.0938	16.6311|16.6311	0.85033|0.85033	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	4|375;375;85;375	.|.	.|ENSP00000316240:Q375X	A|Q	-|-	2|1	0|0	RP11-762I7.5|DNAJC14	54507587|54507587	0.999000|0.999000	0.42202|0.42202	0.848000|0.848000	0.33437|0.33437	0.322000|0.322000	0.28314|0.28314	4.379000|4.379000	0.59575|0.59575	2.595000|2.595000	0.87683|0.87683	0.655000|0.655000	0.94253|0.94253	GCA|CAG	DNAJC14	-	NULL	ENSG00000135392		0.552	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJC14	HGNC	protein_coding	OTTHUMT00000409095.1	53	0.00	0	G	NM_032364		56221320	56221320	-1	no_errors	ENST00000317269	ensembl	human	known	69_37n	nonsense	99	10.81	12	SNP	0.783	A
DNMT3A	1788	genome.wustl.edu	37	2	25469589	25469589	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:25469589A>G	ENST00000264709.3	-	10	1516	c.1179T>C	c.(1177-1179)agT>agC	p.S393S	DNMT3A_ENST00000402667.1_Silent_p.S170S|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Silent_p.S393S|DNMT3A_ENST00000380746.4_Silent_p.S204S	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	393	Interaction with DNMT1 and DNMT3B.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.S204S(1)|p.S393S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCAGTGTCACTCTCATCGC	0.652			"""Mis, F, N, S"""		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	2	Substitution - coding silent(2)	large_intestine(2)											84.0	82.0	82.0					2																	25469589		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1179T>C	2.37:g.25469589A>G			E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP	p.S393	ENST00000264709.3	37	c.1179	CCDS33157.1	2																																																																																			DNMT3A	-	NULL	ENSG00000119772		0.652	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	HGNC	protein_coding	OTTHUMT00000211587.1	41	0.00	0	A	NM_022552		25469589	25469589	-1	no_errors	ENST00000264709	ensembl	human	known	69_37n	silent	30	25.00	10	SNP	0.979	G
DNMT3A	1788	genome.wustl.edu	37	2	25470968	25470968	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:25470968C>T	ENST00000264709.3	-	7	1130	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	DNMT3A_ENST00000402667.1_Missense_Mutation_p.V42M|DNMT3A_ENST00000321117.5_Missense_Mutation_p.V265M|DNMT3A_ENST00000380746.4_Missense_Mutation_p.V76M	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	265	Interaction with DNMT1 and DNMT3B.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGGACCCCACGGGCTCAGGC	0.662			"""Mis, F, N, S"""		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													60.0	61.0	60.0					2																	25470968		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.793G>A	2.37:g.25470968C>T	ENSP00000264709:p.Val265Met		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP	p.V265M	ENST00000264709.3	37	c.793	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183185	0.78677	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.93307	-3.19;-3.2;-3.2;-3.18	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.91801	0.7406	L	0.34521	1.04	0.80722	D	1	D;D	0.63046	0.992;0.989	P;B	0.48873	0.593;0.375	D	0.91334	0.5092	10	0.39692	T	0.17	-8.4925	18.2356	0.89948	0.0:1.0:0.0:0.0	.	265;76	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	M	76;265;265;42	ENSP00000370122:V76M;ENSP00000324375:V265M;ENSP00000264709:V265M;ENSP00000384237:V42M	ENSP00000264709:V265M	V	-	1	0	DNMT3A	25324472	1.000000	0.71417	0.966000	0.40874	0.582000	0.36321	5.275000	0.65575	2.653000	0.90120	0.563000	0.77884	GTG	DNMT3A	-	NULL	ENSG00000119772		0.662	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	HGNC	protein_coding	OTTHUMT00000211587.1	83	0.00	0	C	NM_022552		25470968	25470968	-1	no_errors	ENST00000264709	ensembl	human	known	69_37n	missense	133	21.64	37	SNP	1.000	T
DOCK7	85440	genome.wustl.edu	37	1	62960021	62960021	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:62960021T>C	ENST00000340370.5	-	39	5066	c.5049A>G	c.(5047-5049)tcA>tcG	p.S1683S	DOCK7_ENST00000251157.5_Silent_p.S1705S	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1714	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CAAGTGCTGCTGAGTGGACTA	0.473																																						dbGAP											0													110.0	84.0	93.0					1																	62960021		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5049A>G	1.37:g.62960021T>C			Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	pfam_DOCK,superfamily_ARM-type_fold	p.S877G	ENST00000340370.5	37	c.2629	CCDS30734.1	1	.	.	.	.	.	.	.	.	.	.	T	5.212	0.224659	0.09916	.	.	ENSG00000116641	ENST00000454575	T	0.01767	4.65	5.9	-10.7	0.00240	.	0.112635	0.64402	D	0.000011	T	0.01730	0.0055	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41233	-0.9520	7	0.44086	T	0.13	.	2.7901	0.05386	0.1567:0.3024:0.334:0.2069	.	.	.	.	G	877	ENSP00000413583:S877G	ENSP00000413583:S877G	S	-	1	0	DOCK7	62732609	0.000000	0.05858	0.748000	0.31131	0.502000	0.33828	-2.394000	0.01054	-1.814000	0.01224	-1.208000	0.01637	AGC	DOCK7	-	NULL	ENSG00000116641		0.473	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	150	0.00	0	T	NM_033407		62960021	62960021	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000454575	ensembl	human	known	69_37n	missense	39	11.36	5	SNP	0.085	C
DOK7	285489	genome.wustl.edu	37	4	3478250	3478250	+	Silent	SNP	C	C	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:3478250C>G	ENST00000340083.5	+	4	578	c.513C>G	c.(511-513)ggC>ggG	p.G171G	DOK7_ENST00000389653.2_Silent_p.G171G|DOK7_ENST00000507039.1_Silent_p.G171G	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	171	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.		G -> D (in LGM; results in a significant reduction of AChR clusters). {ECO:0000269|PubMed:22661499}.|G -> R (in LGM). {ECO:0000269|PubMed:20012313}.		neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCTTTGAAGGCGGGACCAGGT	0.652																																						dbGAP											0													73.0	79.0	77.0					4																	3478250		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"""chromosome 4 open reading frame 25"""	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.513C>G	4.37:g.3478250C>G			A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Silent	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.G171	ENST00000340083.5	37	c.513	CCDS3370.2	4																																																																																			DOK7	-	pfam_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	ENSG00000175920		0.652	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOK7	HGNC	protein_coding	OTTHUMT00000313538.1	155	0.00	0	C	NM_173660		3478250	3478250	+1	no_errors	ENST00000389653	ensembl	human	known	69_37n	silent	209	13.58	33	SNP	0.996	G
DOT1L	84444	genome.wustl.edu	37	19	2202709	2202709	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:2202709G>A	ENST00000398665.3	+	9	754	c.718G>A	c.(718-720)Gtg>Atg	p.V240M		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	240	DOT1. {ECO:0000255|PROSITE- ProRule:PRU00902}.				histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTTATATTTGTGAATAATTT	0.547																																						dbGAP											0													190.0	196.0	194.0					19																	2202709		1984	4153	6137	-	-	-	SO:0001583	missense	0			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.718G>A	19.37:g.2202709G>A	ENSP00000381657:p.Val240Met		O60379|Q96JL1	Missense_Mutation	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.V240M	ENST00000398665.3	37	c.718	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681115	0.88542	.	.	ENSG00000104885	ENST00000398665;ENST00000221482	T	0.23754	1.89	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.54967	0.1891	M	0.83852	2.665	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.64032	-0.6502	10	0.87932	D	0	-25.3461	16.1689	0.81788	0.0:0.0:1.0:0.0	.	240	Q8TEK3-2	.	M	240	ENSP00000381657:V240M	ENSP00000221482:V240M	V	+	1	0	DOT1L	2153709	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.335000	0.96500	2.043000	0.60533	0.462000	0.41574	GTG	DOT1L	-	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	ENSG00000104885		0.547	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	530	0.19	1	G	NM_032482		2202709	2202709	+1	no_errors	ENST00000398665	ensembl	human	known	69_37n	missense	644	20.54	167	SNP	1.000	A
DOT1L	84444	genome.wustl.edu	37	19	2216367	2216367	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:2216367C>T	ENST00000398665.3	+	20	2047	c.2011C>T	c.(2011-2013)Ctg>Ttg	p.L671L	AC004490.1_ENST00000585593.1_RNA|DOT1L_ENST00000608122.1_3'UTR	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	671					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCCTGTCCCTGCACCTGCG	0.657																																						dbGAP											0													28.0	33.0	31.0					19																	2216367		2037	4164	6201	-	-	-	SO:0001819	synonymous_variant	0			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.2011C>T	19.37:g.2216367C>T			O60379|Q96JL1	Silent	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.L671	ENST00000398665.3	37	c.2011	CCDS42460.1	19																																																																																			DOT1L	-	pirsf_Histone_H3-K79_MeTrfase_met	ENSG00000104885		0.657	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	16	0.00	0	C	NM_032482		2216367	2216367	+1	no_errors	ENST00000398665	ensembl	human	known	69_37n	silent	26	23.53	8	SNP	0.000	T
DROSHA	29102	genome.wustl.edu	37	5	31526197	31526197	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:31526197G>A	ENST00000511367.2	-	4	1087	c.843C>T	c.(841-843)taC>taT	p.Y281Y	DROSHA_ENST00000442743.1_Silent_p.Y281Y|DROSHA_ENST00000513349.1_Silent_p.Y281Y|DROSHA_ENST00000504361.1_5'Flank|DROSHA_ENST00000344624.3_Silent_p.Y281Y	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	281	Arg-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TGCTCCGTTCGTAGCTGCGGT	0.537																																						dbGAP											0													85.0	86.0	86.0					5																	31526197		2099	4207	6306	-	-	-	SO:0001819	synonymous_variant	0			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.843C>T	5.37:g.31526197G>A			E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Nonsense_Mutation	SNP	NULL	p.R111*	ENST00000511367.2	37	c.331	CCDS47195.1	5	.	.	.	.	.	.	.	.	.	.	G	5.675	0.309093	0.10733	.	.	ENSG00000113360	ENST00000512076	.	.	.	4.55	-5.82	0.02333	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.6516	16.3055	0.82846	0.4233:0.0:0.5767:0.0	.	.	.	.	X	111	.	.	R	-	1	2	DROSHA	31561954	0.000000	0.05858	0.882000	0.34594	0.905000	0.53344	-2.021000	0.01440	-1.289000	0.02375	-0.145000	0.13849	CGA	DROSHA	-	NULL	ENSG00000113360		0.537	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DROSHA	HGNC	protein_coding	OTTHUMT00000366561.3	259	0.00	0	G	NM_013235		31526197	31526197	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000512076	ensembl	human	putative	69_37n	nonsense	105	24.65	35	SNP	0.332	A
DSCAML1	57453	genome.wustl.edu	37	11	117352731	117352731	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:117352731G>A	ENST00000321322.6	-	12	2687	c.2686C>T	c.(2686-2688)Cgg>Tgg	p.R896W	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R626W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	836	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATGGCATACCGCATGACGCGG	0.632																																						dbGAP											0													171.0	118.0	136.0					11																	117352731		2201	4296	6497	-	-	-	SO:0001583	missense	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2686C>T	11.37:g.117352731G>A	ENSP00000315465:p.Arg896Trp		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R896W	ENST00000321322.6	37	c.2686	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	G	14.65	2.600114	0.46423	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.53206	0.63;0.63	3.89	0.372	0.16173	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71082	0.3298	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77222	-0.2667	9	0.87932	D	0	.	13.2915	0.60274	0.0:0.0:0.5836:0.4164	.	836	Q8TD84	DSCL1_HUMAN	W	626;896;603	ENSP00000434335:R626W;ENSP00000315465:R896W	ENSP00000315465:R896W	R	-	1	2	DSCAML1	116857941	1.000000	0.71417	0.918000	0.36340	0.141000	0.21300	2.093000	0.41710	0.273000	0.22049	0.485000	0.47835	CGG	DSCAML1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000177103		0.632	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	372	0.00	0	G	NM_020693		117352731	117352731	-1	no_errors	ENST00000321322	ensembl	human	known	69_37n	missense	357	16.47	71	SNP	1.000	A
DSG3	1830	genome.wustl.edu	37	18	29054321	29054321	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr18:29054321C>T	ENST00000257189.4	+	15	2422	c.2339C>T	c.(2338-2340)gCt>gTt	p.A780V		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	780					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AAGGACTACGCTGATGGGGCG	0.443																																						dbGAP											0													136.0	139.0	138.0					18																	29054321		2203	4300	6503	-	-	-	SO:0001583	missense	0			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2339C>T	18.37:g.29054321C>T	ENSP00000257189:p.Ala780Val		A8K2V2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.A780V	ENST00000257189.4	37	c.2339	CCDS11898.1	18	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077125	0.36662	.	.	ENSG00000134757	ENST00000257189	T	0.60920	0.15	6.06	2.24	0.28232	.	0.723300	0.12149	N	0.495119	T	0.54208	0.1844	L	0.42245	1.32	0.09310	N	1	P	0.37663	0.604	B	0.41666	0.363	T	0.44711	-0.9310	10	0.54805	T	0.06	.	12.6351	0.56679	0.0:0.3992:0.526:0.0748	.	780	P32926	DSG3_HUMAN	V	780	ENSP00000257189:A780V	ENSP00000257189:A780V	A	+	2	0	DSG3	27308319	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.987000	0.29603	0.131000	0.18576	-0.181000	0.13052	GCT	DSG3	-	prints_Desmoglein	ENSG00000134757		0.443	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	179	0.00	0	C	NM_001944		29054321	29054321	+1	no_errors	ENST00000257189	ensembl	human	known	69_37n	missense	167	16.08	32	SNP	0.000	T
DSN1	79980	genome.wustl.edu	37	20	35399443	35399443	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:35399443C>T	ENST00000426836.1	-	3	560	c.188G>A	c.(187-189)gGa>gAa	p.G63E	DSN1_ENST00000373734.4_Intron|DSN1_ENST00000448110.2_Missense_Mutation_p.G47E|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000373750.4_Missense_Mutation_p.G63E|DSN1_ENST00000473615.1_Intron|DSN1_ENST00000373745.3_Missense_Mutation_p.G63E	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	63					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				ATCACAATTTCCCCCTTTTTT	0.468																																						dbGAP											0													142.0	142.0	142.0					20																	35399443		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"""kinetochore null 3 homolog (C. elegans)"""	609175	"""chromosome 20 open reading frame 172"", ""DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.188G>A	20.37:g.35399443C>T	ENSP00000389810:p.Gly63Glu		B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Missense_Mutation	SNP	pfam_Mtw1_DSN1	p.G63E	ENST00000426836.1	37	c.188	CCDS13286.1	20	.	.	.	.	.	.	.	.	.	.	c	0.009	-1.839550	0.00573	.	.	ENSG00000149636	ENST00000426836;ENST00000373745;ENST00000448110;ENST00000373750;ENST00000449595;ENST00000447406	.	.	.	5.09	-9.38	0.00623	.	1.163430	0.06251	N	0.692080	T	0.12347	0.0300	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31888	-0.9927	9	0.02654	T	1	-16.3347	8.5346	0.33355	0.0:0.2467:0.1998:0.5535	.	63	Q9H410	DSN1_HUMAN	E	63;63;47;63;47;63	.	ENSP00000362850:G63E	G	-	2	0	DSN1	34832857	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-0.795000	0.04580	-1.832000	0.01196	-1.806000	0.00616	GGA	DSN1	-	NULL	ENSG00000149636		0.468	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSN1	HGNC	protein_coding	OTTHUMT00000079043.2	121	0.00	0	C	NM_024918		35399443	35399443	-1	no_errors	ENST00000373745	ensembl	human	known	69_37n	missense	124	21.02	33	SNP	0.000	T
DSPP	1834	genome.wustl.edu	37	4	88533962	88533962	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:88533962T>C	ENST00000282478.7	+	3	657	c.624T>C	c.(622-624)ggT>ggC	p.G208G	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.G208G			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	208					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GAAACGAGGGTAATACAAGTG	0.428																																						dbGAP											0													104.0	105.0	105.0					4																	88533962		1990	4164	6154	-	-	-	SO:0001819	synonymous_variant	0			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.624T>C	4.37:g.88533962T>C			A8MUI0|O95815	Silent	SNP	NULL	p.G208	ENST00000282478.7	37	c.624	CCDS43248.1	4																																																																																			DSPP	-	NULL	ENSG00000152591		0.428	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	165	0.00	0	T	NM_014208		88533962	88533962	+1	no_errors	ENST00000282478	ensembl	human	known	69_37n	silent	39	22.00	11	SNP	0.000	C
DTYMK	1841	genome.wustl.edu	37	2	242619704	242619704	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:242619704G>A	ENST00000305784.2	-	3	477	c.270C>T	c.(268-270)ggC>ggT	p.G90G	DTYMK_ENST00000493095.1_5'Flank	NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	90					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|cellular response to growth factor stimulus (GO:0071363)|dTDP biosynthetic process (GO:0006233)|dTTP biosynthetic process (GO:0006235)|myoblast differentiation (GO:0045445)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside monophosphate phosphorylation (GO:0046940)|nucleotide phosphorylation (GO:0046939)|response to cadmium ion (GO:0046686)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|nucleoside phosphate kinase activity (GO:0050145)|thymidylate kinase activity (GO:0004798)			NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CGAGGGTCACGCCCTGGCTCA	0.527																																						dbGAP											0													134.0	111.0	119.0					2																	242619704		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X54729	CCDS2552.1	2q37	2008-02-05			ENSG00000168393	ENSG00000168393	2.7.4.9		3061	protein-coding gene	gene with protein product	"""dTMP kinase"", ""thymidylate (dTMP) kinase"""	188345				2017365, 8024690	Standard	NM_001165031		Approved	CDC8, TYMK, TMPK	uc002wbz.2	P23919	OTTHUMG00000133409	ENST00000305784.2:c.270C>T	2.37:g.242619704G>A			B7ZW70|Q6FGX1|Q9BUX4	Missense_Mutation	SNP	NULL	p.A86V	ENST00000305784.2	37	c.257	CCDS2552.1	2	.	.	.	.	.	.	.	.	.	.	A	3.585	-0.084731	0.07097	.	.	ENSG00000168393	ENST00000420144	.	.	.	5.48	-7.91	0.01165	.	.	.	.	.	T	0.35158	0.0922	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38866	-0.9641	4	.	.	.	-21.4604	2.6119	0.04893	0.3294:0.1432:0.3837:0.1437	.	.	.	.	V	86	.	.	A	-	2	0	DTYMK	242268377	0.001000	0.12720	0.202000	0.23494	0.424000	0.31475	-0.350000	0.07721	-1.700000	0.01414	-2.252000	0.00282	GCG	DTYMK	-	NULL	ENSG00000168393		0.527	DTYMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTYMK	HGNC	protein_coding	OTTHUMT00000257266.2	194	0.00	0	G	NM_012145		242619704	242619704	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000420144	ensembl	human	novel	69_37n	missense	230	12.55	33	SNP	0.001	A
DUSP13	51207	genome.wustl.edu	37	10	76855525	76855525	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:76855525T>C	ENST00000472493.2	-	3	280	c.202A>G	c.(202-204)Atc>Gtc	p.I68V	DUSP13_ENST00000464872.1_Missense_Mutation_p.I68V|DUSP13_ENST00000478873.2_Missense_Mutation_p.I204V|DUSP13_ENST00000372700.3_Missense_Mutation_p.I118V|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000605915.1_Missense_Mutation_p.I90V|DUSP13_ENST00000607131.1_Missense_Mutation_p.I161V|DUSP13_ENST00000607009.1_5'Flank|DUSP13_ENST00000491677.2_Missense_Mutation_p.I197V	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	68					meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCCAGCTGGATCAGCTTGCTC	0.572																																					NSCLC(174;1655 2059 12324 40663 42963)	dbGAP											0													153.0	138.0	143.0					10																	76855525		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000472493.2:c.202A>G	10.37:g.76855525T>C	ENSP00000444580:p.Ile68Val		A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.I197V	ENST00000472493.2	37	c.589	CCDS7346.1	10	.	.	.	.	.	.	.	.	.	.	T	5.541	0.284714	0.10513	.	.	ENSG00000079393	ENST00000308475;ENST00000472493;ENST00000491677;ENST00000372698;ENST00000464872;ENST00000372700	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	5.01	-4.63	0.03359	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	1.836010	0.02204	N	0.062575	T	0.27900	0.0687	N	0.02865	-0.47	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.10086	-1.0645	10	0.39692	T	0.17	-0.2079	2.3171	0.04201	0.2325:0.3692:0.0938:0.3045	.	118;197;68	Q9UII6-4;F2Z2C4;Q9UII6	.;.;DUS13_HUMAN	V	68;68;197;161;68;118	ENSP00000311051:I68V;ENSP00000444580:I68V;ENSP00000436312:I197V;ENSP00000434041:I68V;ENSP00000361785:I118V	ENSP00000311051:I68V	I	-	1	0	DUSP13	76525531	0.000000	0.05858	0.002000	0.10522	0.318000	0.28184	-0.264000	0.08658	-0.621000	0.05633	-0.256000	0.11100	ATC	DUSP13	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	ENSG00000079393		0.572	DUSP13-004	KNOWN	basic|CCDS	protein_coding	DUSP13	HGNC	protein_coding	OTTHUMT00000048786.3	195	0.00	0	T			76855525	76855525	-1	no_errors	ENST00000491677	ensembl	human	known	69_37n	missense	204	14.29	34	SNP	0.000	C
DUSP2	1844	genome.wustl.edu	37	2	96809998	96809998	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:96809998A>G	ENST00000288943.4	-	3	710	c.625T>C	c.(625-627)Tgc>Cgc	p.C209R	AC012307.2_ENST00000449242.1_lincRNA	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	209					endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				TGGTTGGGGCAGCTGGCGGAC	0.597																																						dbGAP											0													77.0	72.0	74.0					2																	96809998		2203	4300	6503	-	-	-	SO:0001583	missense	0			L11329	CCDS2016.1	2q11	2011-06-09			ENSG00000158050	ENSG00000158050		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3068	protein-coding gene	gene with protein product		603068				7806236, 7590752, 12673251	Standard	NM_004418		Approved	PAC-1	uc002svk.4	Q05923	OTTHUMG00000130456	ENST00000288943.4:c.625T>C	2.37:g.96809998A>G	ENSP00000288943:p.Cys209Arg		Q53T45	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.C209R	ENST00000288943.4	37	c.625	CCDS2016.1	2	.	.	.	.	.	.	.	.	.	.	a	15.45	2.836172	0.50951	.	.	ENSG00000158050	ENST00000288943	D	0.85629	-2.01	4.56	4.56	0.56223	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.88584	0.6476	L	0.45051	1.395	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.89212	0.3565	10	0.66056	D	0.02	.	12.2279	0.54472	1.0:0.0:0.0:0.0	.	209	Q05923	DUS2_HUMAN	R	209	ENSP00000288943:C209R	ENSP00000288943:C209R	C	-	1	0	DUSP2	96173725	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	6.058000	0.71126	2.072000	0.62099	0.450000	0.29827	TGC	DUSP2	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	ENSG00000158050		0.597	DUSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP2	HGNC	protein_coding	OTTHUMT00000252847.1	139	0.00	0	A	NM_004418		96809998	96809998	-1	no_errors	ENST00000288943	ensembl	human	known	69_37n	missense	129	20.37	33	SNP	1.000	G
DVL3	1857	genome.wustl.edu	37	3	183888225	183888225	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:183888225C>T	ENST00000313143.3	+	15	2081	c.1833C>T	c.(1831-1833)agC>agT	p.S611S	DVL3_ENST00000431765.1_Silent_p.S594S|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	611					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCACACGCAGCAGCCTGCGGG	0.731																																						dbGAP											0													6.0	11.0	9.0					3																	183888225		2094	4124	6218	-	-	-	SO:0001819	synonymous_variant	0			D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.1833C>T	3.37:g.183888225C>T			B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Silent	SNP	pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled,prints_Dishevelled_3,prints_Dishevelled_1	p.S611	ENST00000313143.3	37	c.1833	CCDS3253.1	3																																																																																			DVL3	-	pfam_Dishevelled_C-dom	ENSG00000161202		0.731	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DVL3	HGNC	protein_coding	OTTHUMT00000346184.1	14	0.00	0	C	NM_004423		183888225	183888225	+1	no_errors	ENST00000313143	ensembl	human	known	69_37n	silent	39	20.41	10	SNP	1.000	T
DYNC1H1	1778	genome.wustl.edu	37	14	102508438	102508438	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:102508438C>T	ENST00000360184.4	+	66	12355	c.12191C>T	c.(12190-12192)aCg>aTg	p.T4064M	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4064	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.T4064M(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAGCAGAACACGCAGATCACT	0.542																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											113.0	90.0	98.0					14																	102508438		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12191C>T	14.37:g.102508438C>T	ENSP00000348965:p.Thr4064Met		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.T4064M	ENST00000360184.4	37	c.12191	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004545	0.54254	.	.	ENSG00000197102	ENST00000360184	T	0.08896	3.04	5.91	5.03	0.67393	Dynein heavy chain (1);	0.101958	0.64402	D	0.000003	T	0.06917	0.0176	N	0.16903	0.455	0.51482	D	0.999928	B	0.22800	0.075	B	0.21360	0.034	T	0.29274	-1.0017	10	0.41790	T	0.15	.	15.2882	0.73846	0.0:0.9328:0.0:0.0672	.	4064	Q14204	DYHC1_HUMAN	M	4064	ENSP00000348965:T4064M	ENSP00000348965:T4064M	T	+	2	0	DYNC1H1	101578191	1.000000	0.71417	0.900000	0.35374	0.940000	0.58332	4.240000	0.58701	1.512000	0.48834	0.655000	0.94253	ACG	DYNC1H1	-	pfam_Dynein_heavy	ENSG00000197102		0.542	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	349	0.00	0	C	NM_001376		102508438	102508438	+1	no_errors	ENST00000360184	ensembl	human	known	69_37n	missense	255	29.36	106	SNP	0.979	T
DYNC1LI1	51143	genome.wustl.edu	37	3	32571050	32571050	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:32571050delT	ENST00000273130.4	-	11	1391	c.1288delA	c.(1288-1290)attfs	p.I430fs	DYNC1LI1_ENST00000432458.2_Frame_Shift_Del_p.I314fs	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	430					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						TTTGGATCAATTTTTTTTGAC	0.398																																						dbGAP											0													67.0	64.0	65.0					3																	32571050		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"""Cytoplasmic dyneins"""	18745	protein-coding gene	gene with protein product		615890	"""dynein, cytoplasmic, light intermediate polypeptide 1"""	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.1288delA	3.37:g.32571050delT	ENSP00000273130:p.Ile430fs		A2RRG7|Q53HC8|Q53HK7	Frame_Shift_Del	DEL	pfam_Dynein_light_int_chain	p.I430fs	ENST00000273130.4	37	c.1288	CCDS2654.1	3																																																																																			DYNC1LI1	-	pfam_Dynein_light_int_chain	ENSG00000144635		0.398	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1LI1	HGNC	protein_coding	OTTHUMT00000253250.1	129	0.00	0	T	NM_016141		32571050	32571050	-1	no_errors	ENST00000273130	ensembl	human	known	69_37n	frame_shift_del	36	25.00	12	DEL	1.000	-
DYRK3	8444	genome.wustl.edu	37	1	206821385	206821385	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:206821385G>A	ENST00000367109.2	+	3	1010	c.842G>A	c.(841-843)cGg>cAg	p.R281Q	DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367106.1_Missense_Mutation_p.R261Q|DYRK3_ENST00000367108.3_Missense_Mutation_p.R261Q	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	281	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCACATTCCGGAACCATGTT	0.418																																					Melanoma(164;427 2622 26826 51707)	dbGAP											0													115.0	116.0	115.0					1																	206821385		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.842G>A	1.37:g.206821385G>A	ENSP00000356076:p.Arg281Gln		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R281Q	ENST00000367109.2	37	c.842	CCDS30999.1	1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158025	0.78114	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000367106	T;T;T	0.20332	2.08;2.08;2.08	5.21	4.28	0.50868	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.39436	0.1078	L	0.45470	1.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.26643	-1.0097	10	0.87932	D	0	.	14.2091	0.65753	0.0:0.0:0.8494:0.1506	.	281;261	O43781;O43781-2	DYRK3_HUMAN;.	Q	281;261;261	ENSP00000356076:R281Q;ENSP00000356075:R261Q;ENSP00000356073:R261Q	ENSP00000356073:R261Q	R	+	2	0	DYRK3	204888008	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.619000	0.98369	1.394000	0.46624	0.478000	0.44815	CGG	DYRK3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000143479		0.418	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYRK3	HGNC	protein_coding	OTTHUMT00000088458.1	76	0.00	0	G	NM_003582		206821385	206821385	+1	no_errors	ENST00000367109	ensembl	human	known	69_37n	missense	31	35.42	17	SNP	1.000	A
EDC4	23644	genome.wustl.edu	37	16	67913803	67913803	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:67913803C>T	ENST00000358933.5	+	16	2111	c.1872C>T	c.(1870-1872)agC>agT	p.S624S	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	624	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		gcagcagcagcagtagcagca	0.602																																						dbGAP											0													36.0	33.0	34.0					16																	67913803		2193	4282	6475	-	-	-	SO:0001819	synonymous_variant	0			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1872C>T	16.37:g.67913803C>T			A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S624	ENST00000358933.5	37	c.1872	CCDS10849.1	16																																																																																			EDC4	-	NULL	ENSG00000038358		0.602	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2	99	0.00	0	C	NM_014329		67913803	67913803	+1	no_errors	ENST00000358933	ensembl	human	known	69_37n	silent	107	26.71	39	SNP	0.959	T
EDEM3	80267	genome.wustl.edu	37	1	184677451	184677451	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:184677451C>T	ENST00000318130.8	-	17	2139	c.1873G>A	c.(1873-1875)Ggg>Agg	p.G625R	EDEM3_ENST00000367512.3_Missense_Mutation_p.G582R|EDEM3_ENST00000466392.1_Intron	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	625					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AACCTCAACCCATCTTCAGCG	0.393																																						dbGAP											0													80.0	74.0	76.0					1																	184677451		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.1873G>A	1.37:g.184677451C>T	ENSP00000318147:p.Gly625Arg		B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.G625R	ENST00000318130.8	37	c.1873	CCDS1363.2	1	.	.	.	.	.	.	.	.	.	.	C	33	5.244739	0.95272	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	T;T	0.76316	-1.01;-0.97	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.88669	0.6499	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89031	0.3442	10	0.87932	D	0	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	625	Q9BZQ6	EDEM3_HUMAN	R	625;582	ENSP00000318147:G625R;ENSP00000356482:G582R	ENSP00000318147:G625R	G	-	1	0	EDEM3	182944074	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.711000	0.84669	2.713000	0.92767	0.655000	0.94253	GGG	EDEM3	-	NULL	ENSG00000116406		0.393	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM3	HGNC	protein_coding	OTTHUMT00000085785.3	103	0.00	0	C	NM_025191		184677451	184677451	-1	no_errors	ENST00000318130	ensembl	human	known	69_37n	missense	26	13.33	4	SNP	1.000	T
EIF2AK4	440275	genome.wustl.edu	37	15	40318192	40318192	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:40318192G>A	ENST00000263791.5	+	33	4447	c.4404G>A	c.(4402-4404)gaG>gaA	p.E1468E	EIF2AK4_ENST00000382727.2_Silent_p.E1440E	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1468	Histidyl-tRNA synthetase-like.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AGTCTTTCGAGAAGGAAAGGC	0.438																																						dbGAP											0													90.0	84.0	86.0					15																	40318192		1948	4153	6101	-	-	-	SO:0001819	synonymous_variant	0			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.4404G>A	15.37:g.40318192G>A			C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Anticodon-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E1246K	ENST00000263791.5	37	c.3736	CCDS42016.1	15																																																																																			EIF2AK4	-	superfamily_Anticodon-bd	ENSG00000128829		0.438	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK4	HGNC	protein_coding	OTTHUMT00000418395.1	196	0.00	0	G			40318192	40318192	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000560855	ensembl	human	known	69_37n	missense	85	11.46	11	SNP	1.000	A
EIF6	3692	genome.wustl.edu	37	20	33868520	33868520	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:33868520T>C	ENST00000374450.3	-	4	570	c.306A>G	c.(304-306)tcA>tcG	p.S102S	MMP24-AS1_ENST00000435366.1_RNA|EIF6_ENST00000374436.3_Silent_p.S102S|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000456790.1_RNA|EIF6_ENST00000462894.1_Intron|EIF6_ENST00000374443.3_Intron|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000424358.1_RNA|EDEM2_ENST00000540582.1_5'Flank|MMP24-AS1_ENST00000456350.1_RNA	NM_002212.3	NP_002203.1			eukaryotic translation initiation factor 6											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TGCCCAAGGCTGAGAGCCGCT	0.592																																						dbGAP											0													181.0	137.0	152.0					20																	33868520		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y11435	CCDS13249.1, CCDS13250.1	20q11.2	2008-01-18	2007-07-27	2007-07-27	ENSG00000242372	ENSG00000242372			6159	protein-coding gene	gene with protein product		602912	"""integrin beta 4 binding protein"""	EIF3A, ITGB4BP		9374518, 9740680	Standard	NM_181468		Approved	p27BBP, b(2)gcn	uc002xbz.2	P56537	OTTHUMG00000032328	ENST00000374450.3:c.306A>G	20.37:g.33868520T>C				Missense_Mutation	SNP	NULL	p.Q142R	ENST00000374450.3	37	c.425	CCDS13249.1	20																																																																																			EIF6	-	NULL	ENSG00000242372		0.592	EIF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF6	HGNC	protein_coding	OTTHUMT00000078848.3	432	0.46	2	T	NM_002212		33868520	33868520	-1	no_errors	ENST00000415116	ensembl	human	known	69_37n	missense	535	19.58	131	SNP	0.729	C
ELAVL3	1995	genome.wustl.edu	37	19	11569311	11569311	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:11569311C>T	ENST00000359227.3	-	4	873	c.449G>A	c.(448-450)cGc>cAc	p.R150H	ELAVL3_ENST00000438662.2_Missense_Mutation_p.R150H	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	150	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CGTGATGATGCGGCCGTACTG	0.632																																						dbGAP											0													128.0	109.0	115.0					19																	11569311		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.449G>A	19.37:g.11569311C>T	ENSP00000352162:p.Arg150His		Q16135|Q96CL8|Q96QS9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.R150H	ENST00000359227.3	37	c.449	CCDS32912.1	19	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806463	0.70682	.	.	ENSG00000196361	ENST00000359227;ENST00000438662	T;T	0.16457	2.34;2.34	4.96	3.91	0.45181	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.13072	0.0317	N	0.21545	0.675	0.58432	D	0.999995	B;B	0.28258	0.205;0.108	B;B	0.29785	0.107;0.008	T	0.09487	-1.0672	10	0.66056	D	0.02	.	12.6786	0.56908	0.0:0.9153:0.0:0.0847	.	150;150	Q14576;Q14576-2	ELAV3_HUMAN;.	H	150	ENSP00000352162:R150H;ENSP00000390878:R150H	ENSP00000352162:R150H	R	-	2	0	ELAVL3	11430311	1.000000	0.71417	0.938000	0.37757	0.969000	0.65631	7.704000	0.84595	2.311000	0.77944	0.491000	0.48974	CGC	ELAVL3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	ENSG00000196361		0.632	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELAVL3	HGNC	protein_coding	OTTHUMT00000458827.2	220	0.00	0	C	NM_001420		11569311	11569311	-1	no_errors	ENST00000359227	ensembl	human	known	69_37n	missense	271	12.82	40	SNP	0.984	T
ELFN1	392617	genome.wustl.edu	37	7	1785737	1785737	+	Missense_Mutation	SNP	C	C	T	rs558275573		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:1785737C>T	ENST00000424383.2	+	3	1992	c.1505C>T	c.(1504-1506)gCg>gTg	p.A502V	ELFN1_ENST00000541472.1_Missense_Mutation_p.A502V|ELFN1_ENST00000561626.1_Missense_Mutation_p.A502V			P0C7U0	ELFN1_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 1	502					negative regulation of phosphatase activity (GO:0010923)|synapse organization (GO:0050808)	dendrite (GO:0030425)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)	1						TACCTGCCTGCGGCCGGCGAG	0.711													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13803	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													30.0	35.0	34.0					7																	1785737		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS59046.1	7p22.3	2013-02-11	2011-10-27	2011-10-27	ENSG00000225968	ENSG00000225968		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	33154	protein-coding gene	gene with protein product		614964	"""extracellular leucine-rich repeat and fibronectin type III containing 1"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 1"", ""protein phosphatase 1, regulatory subunit 28"""	PPP1R28		17868438	Standard	NM_001128636		Approved		uc010ksg.2	P0C7U0	OTTHUMG00000151495	ENST00000424383.2:c.1505C>T	7.37:g.1785737C>T	ENSP00000456548:p.Ala502Val		H3BS57	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A502V	ENST00000424383.2	37	c.1505	CCDS59046.1	7																																																																																			ELFN1	-	NULL	ENSG00000225968		0.711	ELFN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ELFN1	HGNC	protein_coding	OTTHUMT00000322893.2	45	0.00	0	C	NM_001128636		1785737	1785737	+1	no_errors	ENST00000424383	ensembl	human	known	69_37n	missense	43	30.65	19	SNP	0.005	T
EMILIN3	90187	genome.wustl.edu	37	20	39991351	39991351	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:39991351C>T	ENST00000332312.3	-	4	1050	c.858G>A	c.(856-858)ctG>ctA	p.L286L		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	286						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GGGCTTCCCGCAGCCGCTGCA	0.642																																						dbGAP											0													40.0	46.0	44.0					20																	39991351		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.858G>A	20.37:g.39991351C>T			Q495S5|Q495S6|Q495S7|Q76KT4	Silent	SNP	pfam_EMI_domain,pfscan_EMI_domain	p.L286	ENST00000332312.3	37	c.858	CCDS13316.1	20																																																																																			EMILIN3	-	NULL	ENSG00000183798		0.642	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN3	HGNC	protein_coding	OTTHUMT00000106876.2	131	0.00	0	C	XM_029741		39991351	39991351	-1	no_errors	ENST00000332312	ensembl	human	known	69_37n	silent	175	18.98	41	SNP	0.470	T
ENAM	10117	genome.wustl.edu	37	4	71510090	71510090	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:71510090A>G	ENST00000396073.3	+	9	3228	c.2947A>G	c.(2947-2949)Aca>Gca	p.T983A	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	983					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATCAAAGAATACACCTTGTCT	0.423																																						dbGAP											0													86.0	84.0	85.0					4																	71510090		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2947A>G	4.37:g.71510090A>G	ENSP00000379383:p.Thr983Ala		Q17RI5|Q9H3D1	Missense_Mutation	SNP	NULL	p.T983A	ENST00000396073.3	37	c.2947	CCDS3544.2	4	.	.	.	.	.	.	.	.	.	.	A	8.062	0.768296	0.15983	.	.	ENSG00000132464	ENST00000396073	T	0.34275	1.37	5.97	3.57	0.40892	.	0.800091	0.11293	N	0.579039	T	0.31040	0.0784	L	0.50333	1.59	0.09310	N	1	B	0.22146	0.065	B	0.23150	0.044	T	0.21552	-1.0242	10	0.30854	T	0.27	0.2995	7.1103	0.25386	0.8287:0.0:0.1713:0.0	.	983	Q9NRM1	ENAM_HUMAN	A	983	ENSP00000379383:T983A	ENSP00000379383:T983A	T	+	1	0	ENAM	71728954	0.006000	0.16342	0.129000	0.21949	0.846000	0.48090	0.925000	0.28791	1.073000	0.40885	0.533000	0.62120	ACA	ENAM	-	NULL	ENSG00000132464		0.423	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENAM	HGNC	protein_coding	OTTHUMT00000252166.3	76	0.00	0	A	NM_031889		71510090	71510090	+1	no_errors	ENST00000396073	ensembl	human	known	69_37n	missense	13	18.75	3	SNP	0.032	G
TRIM59	286827	genome.wustl.edu	37	3	160156609	160156609	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:160156609A>G	ENST00000309784.4	-	3	548	c.363T>C	c.(361-363)ctT>ctC	p.L121L	RP11-432B6.3_ENST00000483754.1_Silent_p.L121L|TRIM59_ENST00000543469.1_Silent_p.L121L	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	121					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GACCTATGGTAAGGCAATGAC	0.378																																						dbGAP											0													100.0	97.0	98.0					3																	160156609		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.363T>C	3.37:g.160156609A>G			A8K5G9|D3DNL9	Silent	SNP	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L121	ENST00000309784.4	37	c.363	CCDS3190.1	3																																																																																			RP11-432B6.3	-	pfam_Znf_B-box,pfscan_Znf_B-box	ENSG00000248710		0.378	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000248710	Clone_based_vega_gene	protein_coding	OTTHUMT00000352963.1	111	0.00	0	A	NM_173084		160156609	160156609	-1	no_errors	ENST00000483754	ensembl	human	known	69_37n	silent	77	13.48	12	SNP	0.999	G
HOMEZ	57594	genome.wustl.edu	37	14	23745659	23745659	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:23745659G>A	ENST00000357460.5	-	2	942	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	HOMEZ_ENST00000561013.1_Missense_Mutation_p.R262W|HOMEZ_ENST00000431326.2_Missense_Mutation_p.R262W	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGTTTATCCCGAGCTTGTGGC	0.527																																						dbGAP											0													66.0	70.0	69.0					14																	23745659		2099	4227	6326	-	-	-	SO:0001583	missense	0			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.778C>T	14.37:g.23745659G>A	ENSP00000350049:p.Arg260Trp		A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R262W	ENST00000357460.5	37	c.784	CCDS45085.1	14	.	.	.	.	.	.	.	.	.	.	g	6.235	0.411455	0.11812	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.24350	1.86;1.86	5.28	-1.38	0.09027	.	0.878989	0.09821	N	0.751494	T	0.13970	0.0338	N	0.24115	0.695	0.09310	N	1	B;B	0.23058	0.079;0.047	B;B	0.16722	0.016;0.007	T	0.27400	-1.0075	10	0.56958	D	0.05	0.181	3.7966	0.08741	0.0729:0.2384:0.322:0.3666	.	262;260	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	W	260;262	ENSP00000350049:R260W;ENSP00000406579:R262W	ENSP00000350049:R260W	R	-	1	2	HOMEZ	22815499	0.000000	0.05858	0.009000	0.14445	0.043000	0.13939	-0.210000	0.09345	-0.123000	0.11745	-0.119000	0.15052	CGG	RP11-124D2.6	-	NULL	ENSG00000260175		0.527	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000260175	Clone_based_vega_gene	protein_coding	OTTHUMT00000416939.2	211	0.00	0	G	NM_020834		23745659	23745659	-1	no_errors	ENST00000431326	ensembl	human	known	69_37n	missense	90	25.62	31	SNP	0.003	A
EOGT	285203	genome.wustl.edu	37	3	69056903	69056903	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:69056903C>T	ENST00000383701.3	-	6	1123	c.381G>A	c.(379-381)agG>agA	p.R127R	EOGT_ENST00000540955.1_5'UTR|EOGT_ENST00000295571.5_Silent_p.R127R|EOGT_ENST00000540764.1_Silent_p.R26R	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	127					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										TCTCCTCCAGCCTCTCTCTGG	0.353																																						dbGAP											0													106.0	104.0	104.0					3																	69056903		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"""AER61 glycosyltransferase"""	614789	"""chromosome 3 open reading frame 64"""	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.381G>A	3.37:g.69056903C>T			A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Silent	SNP	pfam_Glycosyltransferase_AER61	p.R127	ENST00000383701.3	37	c.381		3																																																																																			EOGT	-	NULL	ENSG00000163378		0.353	EOGT-002	KNOWN	basic|appris_principal	protein_coding	EOGT	HGNC	protein_coding	OTTHUMT00000343722.1	137	0.00	0	C	NM_173654		69056903	69056903	-1	no_errors	ENST00000383701	ensembl	human	known	69_37n	silent	80	20.00	20	SNP	0.565	T
EPHB3	2049	genome.wustl.edu	37	3	184299396	184299396	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:184299396C>T	ENST00000330394.2	+	16	3435	c.2983C>T	c.(2983-2985)Cct>Tct	p.P995S	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	995					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CCAGACGCTGCCTGTGCAGGT	0.617																																						dbGAP											0													37.0	35.0	36.0					3																	184299396		2203	4300	6503	-	-	-	SO:0001583	missense	0			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2983C>T	3.37:g.184299396C>T	ENSP00000332118:p.Pro995Ser		Q7Z740	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.P995S	ENST00000330394.2	37	c.2983	CCDS3268.1	3	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096371	0.56075	.	.	ENSG00000182580	ENST00000330394	T	0.06068	3.35	4.36	4.36	0.52297	Sterile alpha motif/pointed domain (2);	0.000000	0.85682	D	0.000000	T	0.10380	0.0254	N	0.10707	0.03	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.53049	-0.8493	10	0.22706	T	0.39	.	16.7884	0.85580	0.0:1.0:0.0:0.0	.	995	P54753	EPHB3_HUMAN	S	995	ENSP00000332118:P995S	ENSP00000332118:P995S	P	+	1	0	EPHB3	185782090	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	3.246000	0.51414	2.378000	0.81104	0.643000	0.83706	CCT	EPHB3	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_SAM/pointed	ENSG00000182580		0.617	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB3	HGNC	protein_coding	OTTHUMT00000345413.1	52	0.00	0	C	NM_004443		184299396	184299396	+1	no_errors	ENST00000330394	ensembl	human	known	69_37n	missense	97	12.61	14	SNP	1.000	T
ERBB2	2064	genome.wustl.edu	37	17	37881061	37881061	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:37881061T>C	ENST00000269571.5	+	20	2549	c.2390T>C	c.(2389-2391)gTg>gCg	p.V797A	ERBB2_ENST00000445658.2_Missense_Mutation_p.V521A|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Missense_Mutation_p.V767A|ERBB2_ENST00000540147.1_Missense_Mutation_p.V767A|ERBB2_ENST00000541774.1_Missense_Mutation_p.V782A|ERBB2_ENST00000584450.1_Missense_Mutation_p.V797A|ERBB2_ENST00000406381.2_Missense_Mutation_p.V767A			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	797	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GTGCAGCTGGTGACACAGCTT	0.602		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												dbGAP		Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	0													82.0	77.0	79.0					17																	37881061		2203	4300	6503	-	-	-	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2390T>C	17.37:g.37881061T>C	ENSP00000269571:p.Val797Ala		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V797A	ENST00000269571.5	37	c.2390	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	T	16.85	3.235453	0.58886	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	5.3	5.3	0.74995	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.94052	0.8094	M	0.86573	2.825	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.99;0.999;0.988	D	0.95023	0.8162	9	0.87932	D	0	.	14.9259	0.70878	0.0:0.0:0.0:1.0	.	521;782;797	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	A	767;782;521;797;767	ENSP00000385185:V767A;ENSP00000446466:V782A;ENSP00000404047:V521A;ENSP00000269571:V797A;ENSP00000443562:V767A	ENSP00000269571:V797A	V	+	2	0	ERBB2	35134587	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.023000	0.88764	2.007000	0.58848	0.460000	0.39030	GTG	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000141736		0.602	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	179	0.55	1	T			37881061	37881061	+1	no_errors	ENST00000269571	ensembl	human	known	69_37n	missense	238	13.41	37	SNP	1.000	C
ERCC6L	54821	genome.wustl.edu	37	X	71425475	71425475	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:71425475T>C	ENST00000334463.3	-	2	3277	c.3142A>G	c.(3142-3144)Aca>Gca	p.T1048A	ERCC6L_ENST00000373657.1_Missense_Mutation_p.T925A|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	1048					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					AAGAGAGATGTGTTGAATGGA	0.358																																						dbGAP											0													117.0	107.0	111.0					X																	71425475		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.3142A>G	X.37:g.71425475T>C	ENSP00000334675:p.Thr1048Ala		Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T1048A	ENST00000334463.3	37	c.3142	CCDS35329.1	X	.	.	.	.	.	.	.	.	.	.	T	3.645	-0.072773	0.07228	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.90676	-2.68;-2.71	4.85	-1.35	0.09114	.	.	.	.	.	T	0.80259	0.4590	L	0.36672	1.1	0.09310	N	1	B	0.15930	0.015	B	0.14578	0.011	T	0.61734	-0.7002	9	0.17832	T	0.49	0.6078	0.7359	0.00965	0.1603:0.2428:0.162:0.435	.	1048	Q2NKX8	ERC6L_HUMAN	A	925;1048	ENSP00000362761:T925A;ENSP00000334675:T1048A	ENSP00000334675:T1048A	T	-	1	0	ERCC6L	71342200	0.000000	0.05858	0.000000	0.03702	0.242000	0.25591	0.486000	0.22340	-0.461000	0.06993	0.481000	0.45027	ACA	ERCC6L	-	NULL	ENSG00000186871		0.358	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6L	HGNC	protein_coding	OTTHUMT00000057174.2	107	0.00	0	T	NM_017669		71425475	71425475	-1	no_errors	ENST00000334463	ensembl	human	known	69_37n	missense	35	20.45	9	SNP	0.000	C
ERCC6L2	375748	genome.wustl.edu	37	9	98703781	98703781	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:98703781A>G	ENST00000288985.7	+	12	2135	c.1830A>G	c.(1828-1830)gtA>gtG	p.V610V	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Silent_p.V421V	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	610	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										ATGTTGTTGTATTATTTGATC	0.358																																						dbGAP											0													134.0	112.0	119.0					9																	98703781		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.1830A>G	9.37:g.98703781A>G			A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V421	ENST00000288985.7	37	c.1263	CCDS35072.1	9																																																																																			ERCC6L2	-	pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,smart_Helicase_C,pfscan_Helicase_C	ENSG00000182150		0.358	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ERCC6L2	HGNC	protein_coding	OTTHUMT00000053247.2	229	0.00	0	A	NM_001010895		98703781	98703781	+1	no_errors	ENST00000437817	ensembl	human	known	69_37n	silent	47	17.54	10	SNP	0.997	G
ESPN	83715	genome.wustl.edu	37	1	6504679	6504679	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:6504679C>A	ENST00000377828.1	+	6	1297	c.1129C>A	c.(1129-1131)Ctc>Atc	p.L377I	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	377					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TACCAGCACCCTCTCCAACTA	0.612																																						dbGAP											0													123.0	91.0	102.0					1																	6504679		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.1129C>A	1.37:g.6504679C>A	ENSP00000367059:p.Leu377Ile		Q6XYB2|Q9H0A2|Q9Y329	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom	p.L377I	ENST00000377828.1	37	c.1129	CCDS70.1	1	.	.	.	.	.	.	.	.	.	.	c	14.80	2.643848	0.47258	.	.	ENSG00000187017	ENST00000377828;ENST00000418286	T;T	0.47177	0.85;0.85	3.6	2.66	0.31614	.	0.266015	0.23539	N	0.047094	T	0.35624	0.0938	L	0.32530	0.975	0.80722	D	1	P	0.47253	0.892	P	0.44732	0.459	T	0.04593	-1.0940	10	0.30854	T	0.27	-17.2603	7.1028	0.25346	0.0:0.7811:0.0:0.2189	.	377	B1AK53	ESPN_HUMAN	I	377;162	ENSP00000367059:L377I;ENSP00000401793:L162I	ENSP00000367059:L377I	L	+	1	0	ESPN	6427266	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	2.073000	0.41519	0.697000	0.31718	0.486000	0.48141	CTC	ESPN	-	NULL	ENSG00000187017		0.612	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPN	HGNC	protein_coding	OTTHUMT00000001887.3	351	0.00	0	C	NM_031475		6504679	6504679	+1	no_errors	ENST00000377828	ensembl	human	known	69_37n	missense	460	12.69	67	SNP	0.991	A
ETV3	2117	genome.wustl.edu	37	1	157095727	157095727	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:157095727G>A	ENST00000368192.4	-	5	509	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W		NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	149					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				AAATGGAACCGGGAAGAGGCT	0.532																																						dbGAP											0													54.0	52.0	53.0					1																	157095727		692	1591	2283	-	-	-	SO:0001583	missense	0			BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"""ets variant gene 3, ETS family transcriptional repressor"", ""ets variant gene 3"""			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.445C>T	1.37:g.157095727G>A	ENSP00000357175:p.Arg149Trp		B4E3M7|Q8TAC8|Q9BX30	Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.R149W	ENST00000368192.4	37	c.445	CCDS44250.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296433	0.81025	.	.	ENSG00000117036	ENST00000368192	T	0.55413	0.52	5.74	3.83	0.44106	.	0.092185	0.47093	D	0.000255	T	0.44350	0.1289	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	P	0.62885	0.908	T	0.40059	-0.9583	10	0.38643	T	0.18	.	9.7806	0.40645	0.0736:0.0:0.7761:0.1502	.	149	P41162	ETV3_HUMAN	W	149	ENSP00000357175:R149W	ENSP00000357175:R149W	R	-	1	2	ETV3	155362351	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.429000	0.66495	0.840000	0.34995	0.561000	0.74099	CGG	ETV3	-	NULL	ENSG00000117036		0.532	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV3	HGNC	protein_coding	OTTHUMT00000082843.2	103	0.00	0	G	NM_005240		157095727	157095727	-1	no_errors	ENST00000368192	ensembl	human	known	69_37n	missense	82	15.46	15	SNP	1.000	A
EXD3	54932	genome.wustl.edu	37	9	140242594	140242594	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:140242594G>A	ENST00000340951.4	-	17	2122	c.1927C>T	c.(1927-1929)Cgg>Tgg	p.R643W	EXD3_ENST00000342129.4_Missense_Mutation_p.R294W	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CGGAGGCTCCGTGCCAGCCCC	0.667																																						dbGAP											0													27.0	35.0	32.0					9																	140242594		2155	4255	6410	-	-	-	SO:0001583	missense	0				CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.1927C>T	9.37:g.140242594G>A	ENSP00000340474:p.Arg643Trp		Q6P1M1|Q8IXT8	Missense_Mutation	SNP	pfam_DUF82,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.R643W	ENST00000340951.4	37	c.1927	CCDS48066.1	9	.	.	.	.	.	.	.	.	.	.	g	13.37	2.216844	0.39201	.	.	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.70516	-0.49;0.23	3.32	1.33	0.21861	.	0.154134	0.41294	N	0.000904	D	0.82838	0.5124	M	0.89287	3.02	0.25726	N	0.985322	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.72818	-0.4178	10	0.87932	D	0	.	7.051	0.25073	0.0:0.1903:0.6136:0.1961	.	294;643	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	W	294;643	ENSP00000343705:R294W;ENSP00000340474:R643W	ENSP00000340474:R643W	R	-	1	2	EXD3	139362415	0.531000	0.26338	0.005000	0.12908	0.323000	0.28346	1.796000	0.38794	0.101000	0.17610	0.442000	0.29010	CGG	EXD3	-	pfam_DUF82	ENSG00000187609		0.667	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXD3	HGNC	protein_coding	OTTHUMT00000343182.1	41	0.00	0	G	NM_017820		140242594	140242594	-1	no_errors	ENST00000340951	ensembl	human	known	69_37n	missense	58	17.14	12	SNP	0.894	A
EXO1	9156	genome.wustl.edu	37	1	242042124	242042124	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:242042124G>A	ENST00000366548.3	+	13	2181	c.1588G>A	c.(1588-1590)Gtc>Atc	p.V530I	EXO1_ENST00000518483.1_Missense_Mutation_p.V530I|EXO1_ENST00000348581.5_Missense_Mutation_p.V530I	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	530					DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TGAAACTGCTGTCACAGATAA	0.383								Editing and processing nucleases																														dbGAP											0													80.0	72.0	75.0					1																	242042124		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1588G>A	1.37:g.242042124G>A	ENSP00000355506:p.Val530Ile		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	pfam_XPG/RAD2_endonuclease,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair	p.V530I	ENST00000366548.3	37	c.1588	CCDS1620.1	1	.	.	.	.	.	.	.	.	.	.	G	6.056	0.378691	0.11466	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.36340	1.33;1.33;1.26	5.06	2.09	0.27110	.	1.100060	0.06827	N	0.793324	T	0.35624	0.0938	M	0.63428	1.95	0.09310	N	1	B;B;B	0.20052	0.01;0.041;0.011	B;B;B	0.15484	0.005;0.013;0.005	T	0.29610	-1.0006	10	0.34782	T	0.22	-2.9645	7.6651	0.28426	0.0:0.2997:0.3924:0.3079	.	529;530;530	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	I	530	ENSP00000355506:V530I;ENSP00000311873:V530I;ENSP00000430251:V530I	ENSP00000311873:V530I	V	+	1	0	EXO1	240108747	0.048000	0.20356	0.017000	0.16124	0.002000	0.02628	0.923000	0.28757	0.277000	0.22141	-0.172000	0.13284	GTC	EXO1	-	NULL	ENSG00000174371		0.383	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXO1	HGNC	protein_coding	OTTHUMT00000096405.1	92	0.00	0	G	NM_006027		242042124	242042124	+1	no_errors	ENST00000348581	ensembl	human	known	69_37n	missense	42	10.42	5	SNP	0.050	A
EXPH5	23086	genome.wustl.edu	37	11	108381248	108381248	+	Silent	SNP	G	G	A	rs201992262		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:108381248G>A	ENST00000265843.4	-	6	5096	c.4986C>T	c.(4984-4986)aaC>aaT	p.N1662N	EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Silent_p.N1474N|EXPH5_ENST00000525344.1_Silent_p.N1655N|EXPH5_ENST00000428840.1_Silent_p.N1586N	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1662					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CATGCTTTCCGTTCTCACTCA	0.473																																						dbGAP											0													204.0	198.0	200.0					11																	108381248		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4986C>T	11.37:g.108381248G>A			Q2KHM1|Q9Y4D6	Silent	SNP	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.N1662	ENST00000265843.4	37	c.4986	CCDS8341.1	11																																																																																			EXPH5	-	NULL	ENSG00000110723		0.473	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXPH5	HGNC	protein_coding	OTTHUMT00000390279.1	231	0.00	0	G	NM_015065		108381248	108381248	-1	no_errors	ENST00000265843	ensembl	human	known	69_37n	silent	116	17.02	24	SNP	0.005	A
EXTL1	2134	genome.wustl.edu	37	1	26357780	26357780	+	Intron	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:26357780T>C	ENST00000374280.3	+	5	2101				EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1						protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGACAACCTGAAGTCCCCT	0.607																																						dbGAP											0													35.0	35.0	35.0					1																	26357780		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.1234+25T>C	1.37:g.26357780T>C			Q6GSC1	RNA	SNP	-	NULL	ENST00000374280.3	37	NULL	CCDS271.1	1																																																																																			EXTL1	-	-	ENSG00000158008		0.607	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXTL1	HGNC	protein_coding	OTTHUMT00000019749.1	60	0.00	0	T	NM_004455		26357780	26357780	+1	no_errors	ENST00000484339	ensembl	human	known	69_37n	rna	99	12.07	14	SNP	0.000	C
F10	2159	genome.wustl.edu	37	13	113803484	113803484	+	Missense_Mutation	SNP	T	T	C	rs121964941		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr13:113803484T>C	ENST00000375559.3	+	8	1158	c.1120T>C	c.(1120-1122)Tcc>Ccc	p.S374P	F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	374	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		S -> P (in FA10D; Marseille; decreased cleavage by factor IXa; normal catalytic efficiency for prothrombin). {ECO:0000269|PubMed:11728527, ECO:0000269|PubMed:7669671, ECO:0000269|PubMed:8529633}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	GGGCCGGCAGTCCACCAGGCT	0.632																																						dbGAP											0			GRCh37	CM940382	F10	M	rs121964941						39.0	39.0	39.0					13																	113803484		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1120T>C	13.37:g.113803484T>C	ENSP00000364709:p.Ser374Pro		Q14340	Missense_Mutation	SNP	pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6	p.S374P	ENST00000375559.3	37	c.1120	CCDS9530.1	13	.	.	.	.	.	.	.	.	.	.	T	7.815	0.716545	0.15306	.	.	ENSG00000126218	ENST00000375559	D	0.88896	-2.44	5.37	2.89	0.33648	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.256188	0.39210	N	0.001423	T	0.79822	0.4512	N	0.16266	0.395	0.31503	N	0.664571	P	0.36412	0.552	B	0.38327	0.271	T	0.78023	-0.2366	10	0.52906	T	0.07	.	8.9022	0.35501	0.0:0.0714:0.4193:0.5093	.	374	P00742	FA10_HUMAN	P	374	ENSP00000364709:S374P	ENSP00000364709:S374P	S	+	1	0	F10	112851485	0.252000	0.23972	0.009000	0.14445	0.001000	0.01503	1.321000	0.33678	0.337000	0.23665	-0.321000	0.08615	TCC	F10	-	pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000126218		0.632	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F10	HGNC	protein_coding	OTTHUMT00000045841.3	36	0.00	0	T			113803484	113803484	+1	no_errors	ENST00000375559	ensembl	human	known	69_37n	missense	62	17.33	13	SNP	0.504	C
F5	2153	genome.wustl.edu	37	1	169509734	169509734	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:169509734G>A	ENST00000367797.3	-	13	4795	c.4594C>T	c.(4594-4596)Cag>Tag	p.Q1532*	F5_ENST00000367796.3_Nonsense_Mutation_p.Q1537*	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1532	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TCACTGCTCTGGACCTCTTCC	0.398																																						dbGAP											0													87.0	74.0	78.0					1																	169509734		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4594C>T	1.37:g.169509734G>A	ENSP00000356771:p.Gln1532*		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Nonsense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.Q1537*	ENST00000367797.3	37	c.4609	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	G	43	9.847840	0.99279	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	.	.	.	5.93	-0.404	0.12396	.	1.415660	0.04062	N	0.306591	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-0.0223	12.3971	0.55391	0.0:0.4927:0.3578:0.1496	.	.	.	.	X	1532;1537	.	ENSP00000356770:Q1537X	Q	-	1	0	F5	167776358	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.500000	0.06405	0.041000	0.15688	0.591000	0.81541	CAG	F5	-	NULL	ENSG00000198734		0.398	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	81	0.00	0	G	NM_000130		169509734	169509734	-1	no_errors	ENST00000367796	ensembl	human	known	69_37n	nonsense	34	17.07	7	SNP	0.001	A
F5	2153	genome.wustl.edu	37	1	169510160	169510160	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:169510160C>G	ENST00000367797.3	-	13	4369	c.4168G>C	c.(4168-4170)Gag>Cag	p.E1390Q	F5_ENST00000367796.3_Missense_Mutation_p.E1395Q	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1390	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.E1390Q(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AGGGGCATCTCACTGAGGTCT	0.512																																						dbGAP											1	Substitution - Missense(1)	lung(1)											128.0	141.0	136.0					1																	169510160		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4168G>C	1.37:g.169510160C>G	ENSP00000356771:p.Glu1390Gln		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.E1395Q	ENST00000367797.3	37	c.4183	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	N	0.005	-2.193014	0.00302	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.22336	1.96;1.96	2.58	-0.603	0.11630	.	0.846155	0.10901	N	0.621658	T	0.01092	0.0036	N	0.00666	-1.275	0.21147	N	0.999774	B	0.11235	0.004	B	0.06405	0.002	T	0.48258	-0.9051	9	0.02654	T	1	-1.5965	7.4985	0.27503	0.0:0.2818:0.5513:0.1669	.	1390	P12259	FA5_HUMAN	Q	1390;1395	ENSP00000356771:E1390Q;ENSP00000356770:E1395Q	ENSP00000356770:E1395Q	E	-	1	0	F5	167776784	0.026000	0.19158	0.000000	0.03702	0.003000	0.03518	0.143000	0.16115	-0.088000	0.12506	-1.210000	0.01631	GAG	F5	-	NULL	ENSG00000198734		0.512	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	328	0.91	3	C	NM_000130		169510160	169510160	-1	no_errors	ENST00000367796	ensembl	human	known	69_37n	missense	196	18.33	44	SNP	0.003	G
F5	2153	genome.wustl.edu	37	1	169510220	169510220	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:169510220G>A	ENST00000367797.3	-	13	4309	c.4108C>T	c.(4108-4110)Ctc>Ttc	p.L1370F	F5_ENST00000367796.3_Missense_Mutation_p.L1375F	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1370	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.L1370F(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTCTGGCTGAGGTCTAGAGAA	0.517																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											160.0	177.0	171.0					1																	169510220		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4108C>T	1.37:g.169510220G>A	ENSP00000356771:p.Leu1370Phe		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.L1375F	ENST00000367797.3	37	c.4123	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	N	6.813	0.519025	0.13005	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.35789	1.29;1.29	4.3	1.27	0.21489	.	0.912622	0.09500	N	0.793686	T	0.12603	0.0306	M	0.72353	2.195	0.22199	N	0.999292	B	0.12013	0.005	B	0.10450	0.005	T	0.29792	-1.0000	9	0.09338	T	0.73	.	4.856	0.13559	0.1951:0.0:0.632:0.1729	.	1370	P12259	FA5_HUMAN	F	1370;1375	ENSP00000356771:L1370F;ENSP00000356770:L1375F	ENSP00000356770:L1375F	L	-	1	0	F5	167776844	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.385000	0.07379	0.368000	0.24481	0.563000	0.77884	CTC	F5	-	NULL	ENSG00000198734		0.517	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	423	0.24	1	G	NM_000130		169510220	169510220	-1	no_errors	ENST00000367796	ensembl	human	known	69_37n	missense	361	21.01	96	SNP	0.003	A
F5	2153	genome.wustl.edu	37	1	169510246	169510246	+	Missense_Mutation	SNP	G	G	A	rs200676405		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:169510246G>A	ENST00000367797.3	-	13	4283	c.4082C>T	c.(4081-4083)cCc>cTc	p.P1361L	F5_ENST00000367796.3_Missense_Mutation_p.P1366L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1361	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGTATGGCTGGGGTCTGGAGA	0.517																																						dbGAP											0													173.0	192.0	186.0					1																	169510246		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4082C>T	1.37:g.169510246G>A	ENSP00000356771:p.Pro1361Leu		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.P1366L	ENST00000367797.3	37	c.4097	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	-	0.098	-1.156764	0.01686	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.31247	1.5;1.5	4.77	-0.403	0.12400	.	0.977927	0.08388	N	0.953450	T	0.01558	0.0050	N	0.00465	-1.465	0.22127	N	0.999349	B	0.02656	0.0	B	0.01281	0.0	T	0.42396	-0.9454	9	0.08381	T	0.77	2.8377	3.888	0.09107	0.4399:0.0:0.3812:0.1789	.	1361	P12259	FA5_HUMAN	L	1361;1366	ENSP00000356771:P1361L;ENSP00000356770:P1366L	ENSP00000356770:P1366L	P	-	2	0	F5	167776870	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.207000	0.09384	-0.022000	0.13986	-0.238000	0.12139	CCC	F5	-	NULL	ENSG00000198734		0.517	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	449	0.44	2	G	NM_000130		169510246	169510246	-1	no_errors	ENST00000367796	ensembl	human	known	69_37n	missense	368	20.82	97	SNP	0.013	A
F5	2153	genome.wustl.edu	37	1	169510293	169510293	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:169510293T>C	ENST00000367797.3	-	13	4236	c.4035A>G	c.(4033-4035)caA>caG	p.Q1345Q	F5_ENST00000367796.3_Silent_p.Q1350Q	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1345	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AAAGGTTTGTTTGACTGAGTT	0.532																																						dbGAP											0													201.0	223.0	215.0					1																	169510293		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4035A>G	1.37:g.169510293T>C			A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.Q1350	ENST00000367797.3	37	c.4050	CCDS1281.1	1																																																																																			F5	-	NULL	ENSG00000198734		0.532	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	453	0.88	4	T	NM_000130		169510293	169510293	-1	no_errors	ENST00000367796	ensembl	human	known	69_37n	silent	397	20.12	101	SNP	0.000	C
F5	2153	genome.wustl.edu	37	1	169510328	169510328	+	Missense_Mutation	SNP	A	A	G	rs147741798	byFrequency	TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:169510328A>G	ENST00000367797.3	-	13	4201	c.4000T>C	c.(4000-4002)Ttc>Ctc	p.F1334L	F5_ENST00000367796.3_Missense_Mutation_p.F1339L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1334	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTCTGGCTGAAGTCTAGAGAA	0.522													G|||	3	0.000599042	0.0015	0.0	5008	,	,		20921	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													203.0	227.0	218.0					1																	169510328		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4000T>C	1.37:g.169510328A>G	ENSP00000356771:p.Phe1334Leu		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.F1339L	ENST00000367797.3	37	c.4015	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	G	0.260	-1.000267	0.02128	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.29142	1.58;1.58	3.91	0.904	0.19302	.	1.162040	0.06133	N	0.670989	T	0.01800	0.0057	N	0.00254	-1.765	0.19300	N	0.999977	B	0.02656	0.0	B	0.01281	0.0	T	0.38178	-0.9673	9	0.11182	T	0.66	.	7.3799	0.26849	0.1022:0.0:0.731:0.1668	.	1334	P12259	FA5_HUMAN	L	1334;1339	ENSP00000356771:F1334L;ENSP00000356770:F1339L	ENSP00000356770:F1339L	F	-	1	0	F5	167776952	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.163000	0.09997	-0.022000	0.13986	-0.937000	0.02696	TTC	F5	-	NULL	ENSG00000198734		0.522	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	511	0.78	4	A	NM_000130		169510328	169510328	-1	no_errors	ENST00000367796	ensembl	human	known	69_37n	missense	487	10.93	60	SNP	0.047	G
F5	2153	genome.wustl.edu	37	1	169510463	169510463	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:169510463A>G	ENST00000367797.3	-	13	4066	c.3865T>C	c.(3865-3867)Ttc>Ctc	p.F1289L	F5_ENST00000367796.3_Missense_Mutation_p.F1294L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1289	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTCTGGCTGAAGTCTAGAGAA	0.517																																						dbGAP											0													220.0	242.0	235.0					1																	169510463		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3865T>C	1.37:g.169510463A>G	ENSP00000356771:p.Phe1289Leu		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.F1294L	ENST00000367797.3	37	c.3880	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	G	1.760	-0.487165	0.04352	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.31247	1.5;1.5	5.07	-0.37	0.12530	.	1.074150	0.07077	N	0.836436	T	0.01287	0.0042	N	0.00368	-1.59	0.19300	N	0.999977	B	0.02656	0.0	B	0.01281	0.0	T	0.34650	-0.9820	9	0.06891	T	0.86	.	1.8604	0.03187	0.3104:0.1296:0.4342:0.1258	.	1289	P12259	FA5_HUMAN	L	1289;1294	ENSP00000356771:F1289L;ENSP00000356770:F1294L	ENSP00000356770:F1294L	F	-	1	0	F5	167777087	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.944000	0.03913	-0.545000	0.06224	-0.215000	0.12644	TTC	F5	-	NULL	ENSG00000198734		0.517	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	494	0.00	0	A	NM_000130		169510463	169510463	-1	no_errors	ENST00000367796	ensembl	human	known	69_37n	missense	465	11.24	59	SNP	0.023	G
FAAH	2166	genome.wustl.edu	37	1	46879247	46879247	+	Nonstop_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:46879247A>G	ENST00000243167.8	+	15	1824	c.1740A>G	c.(1738-1740)tgA>tgG	p.*580W		NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	0					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	AGTCATCCTGATGGCTCTGGC	0.597																																						dbGAP											0													132.0	92.0	105.0					1																	46879247		2203	4300	6503	-	-	-	SO:0001578	stop_lost	0			U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.1740A>G	1.37:g.46879247A>G	ENSP00000243167:p.*580Trpext*8		D3DQ19|Q52M86|Q5TDF8	Nonstop_Mutation	SNP	pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun	p.*580W	ENST00000243167.8	37	c.1740	CCDS535.1	1	.	.	.	.	.	.	.	.	.	.	A	10.64	1.406700	0.25378	.	.	ENSG00000117480	ENST00000243167	.	.	.	5.22	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.1656	0.25689	0.9004:0.0:0.0996:0.0	.	.	.	.	W	580	.	.	X	+	3	0	FAAH	46651834	0.000000	0.05858	0.206000	0.23566	0.018000	0.09664	0.166000	0.16583	2.102000	0.63906	0.533000	0.62120	TGA	FAAH	-	NULL	ENSG00000117480		0.597	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAAH	HGNC	protein_coding	OTTHUMT00000021443.1	171	0.00	0	A	NM_001441		46879247	46879247	+1	no_errors	ENST00000243167	ensembl	human	known	69_37n	nonstop	178	15.49	33	SNP	0.127	G
FAF1	11124	genome.wustl.edu	37	1	51253812	51253812	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:51253812delG	ENST00000396153.2	-	4	678	c.227delC	c.(226-228)cctfs	p.P76fs	FAF1_ENST00000371778.4_Frame_Shift_Del_p.P76fs	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	76					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(3)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		AGAGGAAGTAGGAGCTGAAGC	0.443																																						dbGAP											3	Whole gene deletion(3)	thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)											100.0	93.0	95.0					1																	51253812		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.227delC	1.37:g.51253812delG	ENSP00000379457:p.Pro76fs		Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Frame_Shift_Del	DEL	pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX	p.P76fs	ENST00000396153.2	37	c.227	CCDS554.1	1																																																																																			FAF1	-	NULL	ENSG00000185104		0.443	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF1	HGNC	protein_coding	OTTHUMT00000021807.1	212	0.00	0	G	NM_007051		51253812	51253812	-1	no_errors	ENST00000371778	ensembl	human	known	69_37n	frame_shift_del	43	20.37	11	DEL	1.000	-
F5	2153	genome.wustl.edu	37	1	169510502	169510502	+	Missense_Mutation	SNP	G	G	T	rs140018525		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:169510502G>T	ENST00000367797.3	-	13	4027	c.3826C>A	c.(3826-3828)Ctt>Att	p.L1276I	F5_ENST00000367796.3_Missense_Mutation_p.L1281I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1276	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TCTGGAGAAAGGGGCATCTGA	0.502													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20915	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													219.0	233.0	228.0					1																	169510502		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3826C>A	1.37:g.169510502G>T	ENSP00000356771:p.Leu1276Ile		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.L1281I	ENST00000367797.3	37	c.3841	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987829	0.35036	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.36520	1.25;1.25	4.13	-2.91	0.05631	.	.	.	.	.	T	0.13798	0.0334	M	0.62723	1.935	0.09310	N	0.999999	P	0.37061	0.58	B	0.35114	0.196	T	0.16778	-1.0391	8	0.22706	T	0.39	-2.9938	9.7911	0.40706	0.642:0.0:0.358:0.0	.	1276	P12259	FA5_HUMAN	I	1276;1281	ENSP00000356771:L1276I;ENSP00000356770:L1281I	ENSP00000356770:L1281I	L	-	1	0	F5	167777126	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.767000	0.04720	-0.412000	0.07519	-0.364000	0.07487	CTT	F5	-	NULL	ENSG00000198734		0.502	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	491	0.41	2	G	NM_000130		169510502	169510502	-1	no_errors	ENST00000367796	ensembl	human	known	69_37n	missense	444	14.42	75	SNP	0.000	T
FAM101B	359845	genome.wustl.edu	37	17	293239	293239	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:293239C>T	ENST00000329099.4	-	2	150	c.151G>A	c.(151-153)Gac>Aac	p.D51N		NM_182705.2	NP_874364.1	Q8N5W9	F101B_HUMAN	family with sequence similarity 101, member B	121					actin cytoskeleton organization (GO:0030036)|epithelial to mesenchymal transition (GO:0001837)	actin cytoskeleton (GO:0015629)	filamin binding (GO:0031005)			breast(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)|urinary_tract(1)	13		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)		AGCTGCACGTCGTCGATGAAG	0.652																																						dbGAP											0													62.0	69.0	67.0					17																	293239		2155	4253	6408	-	-	-	SO:0001583	missense	0					17p13	2008-10-23			ENSG00000183688	ENSG00000183688			28705	protein-coding gene	gene with protein product		615928				12477932	Standard	NM_182705		Approved	MGC45871	uc002frj.3	Q8N5W9	OTTHUMG00000132483	ENST00000329099.4:c.151G>A	17.37:g.293239C>T	ENSP00000331915:p.Asp51Asn			Missense_Mutation	SNP	NULL	p.D51N	ENST00000329099.4	37	c.151		17	.	.	.	.	.	.	.	.	.	.	C	9.815	1.184185	0.21870	.	.	ENSG00000183688	ENST00000329099	.	.	.	5.68	2.08	0.27032	.	0.294113	0.43110	D	0.000601	T	0.28267	0.0698	L	0.28458	0.855	0.40507	D	0.980706	B	0.18013	0.025	B	0.17433	0.018	T	0.19976	-1.0289	8	0.15499	T	0.54	-12.2983	5.7046	0.17901	0.0:0.5959:0.1489:0.2552	.	121	Q8N5W9	F101B_HUMAN	N	51	.	ENSP00000331915:D51N	D	-	1	0	FAM101B	293467	0.516000	0.26218	0.761000	0.31378	0.425000	0.31504	2.011000	0.40922	0.852000	0.35287	0.650000	0.86243	GAC	FAM101B	-	NULL	ENSG00000183688		0.652	FAM101B-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	FAM101B	HGNC	protein_coding	OTTHUMT00000255652.1	100	0.00	0	C	NM_182705		293239	293239	-1	no_start_codon	ENST00000329099	ensembl	human	known	69_37n	missense	125	16.67	25	SNP	0.945	T
AMER2	219287	genome.wustl.edu	37	13	25744017	25744017	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr13:25744017G>T	ENST00000515384.1	-	1	2408	c.1741C>A	c.(1741-1743)Ctg>Atg	p.L581M	AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000357816.2_Missense_Mutation_p.L462M|AMER2_ENST00000381853.3_Missense_Mutation_p.L462M			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	581					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										AACCGGGACAGGGAGGACGTC	0.567																																						dbGAP											0													137.0	119.0	125.0					13																	25744017		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1741C>A	13.37:g.25744017G>T	ENSP00000426528:p.Leu581Met		Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.L581M	ENST00000515384.1	37	c.1741	CCDS53859.1	13	.	.	.	.	.	.	.	.	.	.	G	8.670	0.902625	0.17760	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.19806	2.12;2.12;2.12	5.31	-10.6	0.00265	.	1.394410	0.04449	N	0.372213	T	0.12603	0.0306	L	0.36672	1.1	0.09310	N	0.999998	B;B	0.26002	0.139;0.114	B;B	0.24541	0.054;0.022	T	0.06197	-1.0840	10	0.31617	T	0.26	-44.9911	6.5994	0.22693	0.0983:0.3853:0.3722:0.1443	.	581;462	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	M	462;462;581	ENSP00000350469:L462M;ENSP00000371277:L462M;ENSP00000426528:L581M	ENSP00000350469:L462M	L	-	1	2	FAM123A	24642017	0.000000	0.05858	0.002000	0.10522	0.943000	0.58893	-0.370000	0.07523	-3.038000	0.00264	-0.459000	0.05422	CTG	FAM123A	-	pfam_Uncharacterised_FAM123	ENSG00000165566		0.567	AMER2-002	KNOWN	basic|CCDS	protein_coding	FAM123A	HGNC	protein_coding	OTTHUMT00000370229.1	232	0.00	0	G	NM_152704		25744017	25744017	-1	no_errors	ENST00000515384	ensembl	human	known	69_37n	missense	325	13.72	52	SNP	0.001	T
AMER1	139285	genome.wustl.edu	37	X	63410163	63410163	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:63410163A>G	ENST00000330258.3	-	2	3276	c.3004T>C	c.(3004-3006)Tca>Cca	p.S1002P	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	1002	Pro-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									AGTGATATTGACATGGTCATA	0.562																																						dbGAP											67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											50.0	53.0	52.0					X																	63410163		2098	4188	6286	-	-	-	SO:0001583	missense	0			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.3004T>C	X.37:g.63410163A>G	ENSP00000329117:p.Ser1002Pro		A2IB86|Q8N885	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.S1002P	ENST00000330258.3	37	c.3004	CCDS14377.2	X	.	.	.	.	.	.	.	.	.	.	A	2.226	-0.377255	0.05000	.	.	ENSG00000184675	ENST00000330258	T	0.54479	0.57	4.41	1.97	0.26223	.	.	.	.	.	T	0.33381	0.0861	N	0.24115	0.695	0.30943	N	0.725584	B	0.12630	0.006	B	0.12156	0.007	T	0.29397	-1.0013	8	.	.	.	-1.165	6.6103	0.22747	0.7937:0.0:0.2063:0.0	.	1002	Q5JTC6	F123B_HUMAN	P	1002	ENSP00000329117:S1002P	.	S	-	1	0	FAM123B	63326888	0.002000	0.14202	0.033000	0.17914	0.007000	0.05969	0.049000	0.14099	0.295000	0.22570	0.430000	0.28490	TCA	FAM123B	-	NULL	ENSG00000184675		0.562	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123B	HGNC	protein_coding	OTTHUMT00000316584.1	219	0.00	0	A	NM_152424		63410163	63410163	-1	no_errors	ENST00000330258	ensembl	human	known	69_37n	missense	95	10.38	11	SNP	0.204	G
FAM134C	162427	genome.wustl.edu	37	17	40738079	40738079	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:40738079T>C	ENST00000309428.5	-	5	640	c.581A>G	c.(580-582)tAc>tGc	p.Y194C	FAM134C_ENST00000543197.1_5'UTR|FAM134C_ENST00000585894.1_Missense_Mutation_p.Y97C	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	194						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		ACGCATCAAGTAGGACAGCAG	0.478																																						dbGAP											0													163.0	152.0	156.0					17																	40738079		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC049370	CCDS11432.1	17q21.2	2007-05-01							27258	protein-coding gene	gene with protein product						12477932	Standard	NM_178126		Approved	DKFZp686B1036, FLJ33806	uc002ial.2	Q86VR2		ENST00000309428.5:c.581A>G	17.37:g.40738079T>C	ENSP00000309432:p.Tyr194Cys		B3KR75	Missense_Mutation	SNP	NULL	p.Y194C	ENST00000309428.5	37	c.581	CCDS11432.1	17	.	.	.	.	.	.	.	.	.	.	T	26.2	4.716831	0.89205	.	.	ENSG00000141699	ENST00000309428	T	0.56776	0.44	6.17	6.17	0.99709	.	0.108356	0.64402	D	0.000003	T	0.75057	0.3798	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78280	-0.2265	10	0.87932	D	0	-6.0637	16.8222	0.85835	0.0:0.0:0.0:1.0	.	194	Q86VR2	F134C_HUMAN	C	194	ENSP00000309432:Y194C	ENSP00000309432:Y194C	Y	-	2	0	FAM134C	37991605	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	7.366000	0.79548	2.371000	0.80710	0.533000	0.62120	TAC	FAM134C	-	NULL	ENSG00000141699		0.478	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM134C	HGNC	protein_coding	OTTHUMT00000450536.1	210	0.00	0	T	NM_178126		40738079	40738079	-1	no_errors	ENST00000309428	ensembl	human	known	69_37n	missense	109	12.10	15	SNP	0.999	C
FAM160A2	84067	genome.wustl.edu	37	11	6245408	6245408	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:6245408C>T	ENST00000449352.2	-	3	472	c.209G>A	c.(208-210)cGc>cAc	p.R70H	FAM160A2_ENST00000524416.1_Missense_Mutation_p.R70H|FAM160A2_ENST00000265978.4_Missense_Mutation_p.R70H			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	70					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)		p.R70H(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTGTGGTTGCGCACAGCACT	0.617																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											43.0	43.0	43.0					11																	6245408		2201	4296	6497	-	-	-	SO:0001583	missense	0				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.209G>A	11.37:g.6245408C>T	ENSP00000416918:p.Arg70His		Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.R70H	ENST00000449352.2	37	c.209	CCDS44530.1	11	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055349	0.36277	.	.	ENSG00000051009	ENST00000449352;ENST00000265978;ENST00000524416	T;T;T	0.15372	3.05;3.05;2.43	4.85	3.86	0.44501	.	0.204155	0.37530	N	0.002059	T	0.13030	0.0316	L	0.29908	0.895	0.35462	D	0.796633	B;B;B	0.13145	0.004;0.001;0.007	B;B;B	0.12156	0.004;0.002;0.007	T	0.09079	-1.0691	10	0.42905	T	0.14	-19.0822	12.1092	0.53830	0.0:0.9023:0.0:0.0977	.	70;70;70	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	H	70	ENSP00000416918:R70H;ENSP00000265978:R70H;ENSP00000431773:R70H	ENSP00000265978:R70H	R	-	2	0	FAM160A2	6201984	0.780000	0.28664	1.000000	0.80357	0.995000	0.86356	1.262000	0.32992	2.536000	0.85505	0.655000	0.94253	CGC	FAM160A2	-	NULL	ENSG00000051009		0.617	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	HGNC	protein_coding	OTTHUMT00000383759.1	37	0.00	0	C	NM_032127		6245408	6245408	-1	no_errors	ENST00000265978	ensembl	human	known	69_37n	missense	23	17.86	5	SNP	1.000	T
FAM166B	730112	genome.wustl.edu	37	9	35563030	35563030	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:35563030C>T	ENST00000399742.2	-	3	404	c.334G>A	c.(334-336)Gtc>Atc	p.V112I	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	112										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						TCGGCCCAGACCTGGCTGCAG	0.527																																						dbGAP											0													49.0	49.0	49.0					9																	35563030		1947	4131	6078	-	-	-	SO:0001583	missense	0			BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.334G>A	9.37:g.35563030C>T	ENSP00000382646:p.Val112Ile		A1L3B2|B7ZBJ0	Missense_Mutation	SNP	pfam_UPF0573/UPF0605	p.V112I	ENST00000399742.2	37	c.334	CCDS56572.1	9	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891010	0.33348	.	.	ENSG00000215187	ENST00000399742;ENST00000537504	.	.	.	5.67	0.74	0.18330	.	0.529435	0.14275	N	0.329920	T	0.44871	0.1314	M	0.73962	2.25	0.24564	N	0.993959	B;B;B;B	0.24043	0.071;0.041;0.071;0.096	B;B;B;B	0.25884	0.064;0.026;0.028;0.026	T	0.37407	-0.9707	9	0.35671	T	0.21	-8.857	8.4479	0.32854	0.0:0.6159:0.0:0.3841	.	112;112;112;112	B7ZW33;B7ZW26;A8MTA8;A8MTA8-2	.;.;F166B_HUMAN;.	I	112	.	ENSP00000382646:V112I	V	-	1	0	FAM166B	35553030	0.998000	0.40836	0.963000	0.40424	0.872000	0.50106	0.310000	0.19356	-0.123000	0.11745	-0.986000	0.02555	GTC	FAM166B	-	NULL	ENSG00000215187		0.527	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM166B	HGNC	protein_coding	OTTHUMT00000336563.1	145	0.00	0	C	NM_001099951		35563030	35563030	-1	no_errors	ENST00000447837	ensembl	human	known	69_37n	missense	172	16.59	35	SNP	0.992	T
FAM184B	27146	genome.wustl.edu	37	4	17659997	17659997	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:17659997C>G	ENST00000265018.3	-	10	2225	c.2013G>C	c.(2011-2013)gaG>gaC	p.E671D		NM_015688.1	NP_056503.1	Q9ULE4	F184B_HUMAN	family with sequence similarity 184, member B	671										NS(1)|central_nervous_system(1)|endometrium(1)|prostate(1)	4						GTCTGGCCTTCTCCAGCATGC	0.602																																						dbGAP											0													76.0	68.0	70.0					4																	17659997		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS47033.1	4p16	2009-04-22			ENSG00000047662	ENSG00000047662			29235	protein-coding gene	gene with protein product						10574462	Standard	NM_015688		Approved	KIAA1276	uc003gpm.4	Q9ULE4	OTTHUMG00000160287	ENST00000265018.3:c.2013G>C	4.37:g.17659997C>G	ENSP00000265018:p.Glu671Asp			Missense_Mutation	SNP	NULL	p.E671D	ENST00000265018.3	37	c.2013	CCDS47033.1	4	.	.	.	.	.	.	.	.	.	.	C	9.792	1.178261	0.21787	.	.	ENSG00000047662	ENST00000265018	T	0.37584	1.19	4.0	1.16	0.20824	.	0.415378	0.23969	N	0.042782	T	0.29652	0.0740	L	0.54323	1.7	0.18873	N	0.999984	B	0.13594	0.008	B	0.13407	0.009	T	0.27468	-1.0073	10	0.62326	D	0.03	-14.3784	7.0852	0.25254	0.0:0.5739:0.3268:0.0994	.	671	Q9ULE4	F184B_HUMAN	D	671	ENSP00000265018:E671D	ENSP00000265018:E671D	E	-	3	2	FAM184B	17269095	0.970000	0.33590	0.386000	0.26170	0.173000	0.22820	0.053000	0.14184	0.406000	0.25560	0.561000	0.74099	GAG	FAM184B	-	NULL	ENSG00000047662		0.602	FAM184B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184B	HGNC	protein_coding	OTTHUMT00000360137.1	122	0.81	1	C	NM_015688		17659997	17659997	-1	no_errors	ENST00000265018	ensembl	human	known	69_37n	missense	54	22.86	16	SNP	0.442	G
FAM184B	27146	genome.wustl.edu	37	4	17660080	17660080	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:17660080C>G	ENST00000265018.3	-	10	2142	c.1930G>C	c.(1930-1932)Gag>Cag	p.E644Q		NM_015688.1	NP_056503.1	Q9ULE4	F184B_HUMAN	family with sequence similarity 184, member B	644										NS(1)|central_nervous_system(1)|endometrium(1)|prostate(1)	4						TCCTGGAGCTCACGCTGCAGC	0.612																																						dbGAP											0													82.0	70.0	74.0					4																	17660080		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS47033.1	4p16	2009-04-22			ENSG00000047662	ENSG00000047662			29235	protein-coding gene	gene with protein product						10574462	Standard	NM_015688		Approved	KIAA1276	uc003gpm.4	Q9ULE4	OTTHUMG00000160287	ENST00000265018.3:c.1930G>C	4.37:g.17660080C>G	ENSP00000265018:p.Glu644Gln			Missense_Mutation	SNP	NULL	p.E644Q	ENST00000265018.3	37	c.1930	CCDS47033.1	4	.	.	.	.	.	.	.	.	.	.	C	5.563	0.288707	0.10513	.	.	ENSG00000047662	ENST00000265018	T	0.35973	1.28	4.69	2.95	0.34219	.	0.495797	0.20372	N	0.093635	T	0.19046	0.0457	N	0.14661	0.345	0.18873	N	0.999986	B	0.11235	0.004	B	0.15052	0.012	T	0.21518	-1.0243	10	0.21014	T	0.42	-8.6939	7.8489	0.29442	0.0:0.7355:0.1737:0.0908	.	644	Q9ULE4	F184B_HUMAN	Q	644	ENSP00000265018:E644Q	ENSP00000265018:E644Q	E	-	1	0	FAM184B	17269178	0.665000	0.27466	0.154000	0.22540	0.009000	0.06853	0.703000	0.25646	0.490000	0.27771	-0.137000	0.14449	GAG	FAM184B	-	NULL	ENSG00000047662		0.612	FAM184B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184B	HGNC	protein_coding	OTTHUMT00000360137.1	140	0.00	0	C	NM_015688		17660080	17660080	-1	no_errors	ENST00000265018	ensembl	human	known	69_37n	missense	54	28.00	21	SNP	0.378	G
FAM185A	222234	genome.wustl.edu	37	7	102389914	102389914	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:102389914T>C	ENST00000413034.2	+	1	260	c.260T>C	c.(259-261)gTg>gCg	p.V87A	FAM185A_ENST00000481697.1_3'UTR|FAM185A_ENST00000409231.3_Intron	NM_001145268.1	NP_001138740	Q8N0U4	F185A_HUMAN	family with sequence similarity 185, member A	87										kidney(1)	1						CACCTGGCCGTGAGGCCCCTG	0.751																																						dbGAP											0													4.0	8.0	7.0					7																	102389914		638	1513	2151	-	-	-	SO:0001583	missense	0			BC029175	CCDS47676.1, CCDS47677.1	7q22.1	2009-07-09			ENSG00000222011	ENSG00000222011			22412	protein-coding gene	gene with protein product							Standard	NM_001145268		Approved	MGC35361	uc011klf.2	Q8N0U4	OTTHUMG00000154140	ENST00000413034.2:c.260T>C	7.37:g.102389914T>C	ENSP00000395340:p.Val87Ala		A8MUR7|B4DQD3|C9IZ91	Missense_Mutation	SNP	NULL	p.V87A	ENST00000413034.2	37	c.260	CCDS47676.1	7	.	.	.	.	.	.	.	.	.	.	T	18.72	3.684625	0.68157	.	.	ENSG00000222011	ENST00000418198;ENST00000413034	T;T	0.48836	0.8;0.8	3.94	3.94	0.45596	.	0.210928	0.39759	N	0.001266	T	0.48768	0.1518	M	0.68593	2.085	0.36772	D	0.883885	D	0.53312	0.959	P	0.45881	0.496	T	0.60306	-0.7289	10	0.44086	T	0.13	-18.501	10.7573	0.46245	0.0:0.0:0.0:1.0	.	87	Q8N0U4	F185A_HUMAN	A	87	ENSP00000410034:V87A;ENSP00000395340:V87A	ENSP00000395340:V87A	V	+	2	0	FAM185A	102177150	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.390000	0.66261	1.624000	0.50355	0.443000	0.29094	GTG	FAM185A	-	NULL	ENSG00000222011		0.751	FAM185A-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM185A	HGNC	protein_coding	OTTHUMT00000349482.1	25	0.00	0	T	NM_001145268		102389914	102389914	+1	no_errors	ENST00000413034	ensembl	human	known	69_37n	missense	47	18.64	11	SNP	1.000	C
FAM186A	121006	genome.wustl.edu	37	12	50754570	50754570	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:50754570G>A	ENST00000327337.5	-	3	551	c.552C>T	c.(550-552)ctC>ctT	p.L184L	FAM186A_ENST00000543111.1_Silent_p.L184L	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	184																	TCTTTTCGTCGAGGAAAGATG	0.353																																					NSCLC(138;1796 1887 12511 19463 37884)	dbGAP											0													141.0	104.0	116.0					12																	50754570		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.552C>T	12.37:g.50754570G>A				Silent	SNP	NULL	p.L184	ENST00000327337.5	37	c.552	CCDS44878.1	12																																																																																			FAM186A	-	NULL	ENSG00000185958		0.353	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM186A	HGNC	protein_coding	OTTHUMT00000396838.1	149	0.00	0	G	XM_001718353		50754570	50754570	-1	no_errors	ENST00000327337	ensembl	human	known	69_37n	silent	40	18.37	9	SNP	0.002	A
FAM188B	84182	genome.wustl.edu	37	7	30876278	30876278	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:30876278T>C	ENST00000265299.6	+	7	1214	c.1137T>C	c.(1135-1137)gaT>gaC	p.D379D	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	379										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTTCAGAGGATGTGGAGGATG	0.468																																						dbGAP											0													173.0	167.0	169.0					7																	30876278		2077	4216	6293	-	-	-	SO:0001819	synonymous_variant	0			AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1137T>C	7.37:g.30876278T>C			Q71AZ7|Q9H6D2	Silent	SNP	NULL	p.D379	ENST00000265299.6	37	c.1137	CCDS43565.1	7																																																																																			FAM188B	-	NULL	ENSG00000106125		0.468	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM188B	HGNC	protein_coding	OTTHUMT00000327962.1	433	0.00	0	T	NM_032222		30876278	30876278	+1	no_errors	ENST00000265299	ensembl	human	known	69_37n	silent	181	22.13	52	SNP	0.971	C
SPATA31D1	389763	genome.wustl.edu	37	9	84607752	84607752	+	Silent	SNP	G	G	A	rs372215050		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:84607752G>A	ENST00000344803.2	+	4	2414	c.2367G>A	c.(2365-2367)ccG>ccA	p.P789P		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	789					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGCATGGTCCGGAGACTTCTT	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		20357	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													111.0	104.0	106.0					9																	84607752		1917	4120	6037	-	-	-	SO:0001819	synonymous_variant	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2367G>A	9.37:g.84607752G>A				Silent	SNP	NULL	p.P789	ENST00000344803.2	37	c.2367	CCDS47986.1	9																																																																																			FAM75D1	-	NULL	ENSG00000214929		0.483	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75D1	HGNC	protein_coding	OTTHUMT00000402325.1	167	0.00	0	G	NM_001001670		84607752	84607752	+1	no_errors	ENST00000344803	ensembl	human	known	69_37n	silent	48	37.66	29	SNP	0.000	A
FAM73B	84895	genome.wustl.edu	37	9	131830166	131830166	+	Intron	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:131830166C>T	ENST00000358369.4	+	12	1495				FAM73B_ENST00000277475.5_Intron|FAM73B_ENST00000406926.2_Intron	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B						bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						TTGCTTTGTGCTGAACCCCGA	0.632																																						dbGAP											0													33.0	29.0	30.0					9																	131830166		2199	4298	6497	-	-	-	SO:0001627	intron_variant	0			AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 54"""	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.1269+16C>T	9.37:g.131830166C>T			Q8NBM3|Q8TEJ6|Q969E6	RNA	SNP	-	NULL	ENST00000358369.4	37	NULL	CCDS6917.1	9																																																																																			FAM73B	-	-	ENSG00000148343		0.632	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM73B	HGNC	protein_coding	OTTHUMT00000054542.7	25	0.00	0	C	NM_032809		131830166	131830166	+1	no_errors	ENST00000495975	ensembl	human	known	69_37n	rna	43	27.12	16	SNP	0.000	T
RMDN3	55177	genome.wustl.edu	37	15	41043661	41043661	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:41043661A>C	ENST00000260385.6	-	3	1554	c.487T>G	c.(487-489)Tcg>Gcg	p.S163A	RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Missense_Mutation_p.S163A			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	163					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											GTGGCTCCCGAGGAGGCCGTG	0.542																																						dbGAP											0													85.0	89.0	88.0					15																	41043661		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"""family with sequence similarity 82, member A2"""	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.487T>G	15.37:g.41043661A>C	ENSP00000260385:p.Ser163Ala		A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Missense_Mutation	SNP	NULL	p.S163A	ENST00000260385.6	37	c.487	CCDS10063.1	15	.	.	.	.	.	.	.	.	.	.	A	15.44	2.835579	0.50951	.	.	ENSG00000137824	ENST00000260385;ENST00000338376;ENST00000426872	T;T	0.44881	0.91;0.91	5.02	5.02	0.67125	.	0.184334	0.48286	D	0.000183	T	0.36826	0.0981	L	0.55103	1.725	0.37547	D	0.918532	P	0.40970	0.734	B	0.35470	0.203	T	0.41413	-0.9510	10	0.30078	T	0.28	-5.5108	14.4034	0.67065	1.0:0.0:0.0:0.0	.	163	Q96TC7	RMD3_HUMAN	A	163;163;100	ENSP00000260385:S163A;ENSP00000342493:S163A	ENSP00000260385:S163A	S	-	1	0	FAM82A2	38830953	1.000000	0.71417	0.988000	0.46212	0.705000	0.40729	4.273000	0.58914	1.897000	0.54924	0.454000	0.30748	TCG	FAM82A2	-	NULL	ENSG00000137824		0.542	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM82A2	HGNC	protein_coding	OTTHUMT00000252357.1	64	0.00	0	A	NM_018145		41043661	41043661	-1	no_errors	ENST00000260385	ensembl	human	known	69_37n	missense	55	17.91	12	SNP	0.998	C
FAM84B	157638	genome.wustl.edu	37	8	127568643	127568643	+	3'UTR	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:127568643G>T	ENST00000304916.3	-	0	1447				RP11-89K10.1_ENST00000520512.1_RNA|FAM84B_ENST00000517458.1_5'UTR|RP11-103H7.5_ENST00000524320.1_RNA|RP11-89K10.1_ENST00000517773.1_RNA|RP11-89K10.1_ENST00000519880.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B							cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			AGGGAGAAAGGGAGCAGCGGC	0.612																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AJ417849	CCDS6358.1	8q24.13	2006-02-09				ENSG00000168672			24166	protein-coding gene	gene with protein product	"""breast cancer membrane-associated protein 101"", ""neurological/sensory 2"""	609483				12477722	Standard	NM_174911		Approved	BCMP101, NSE2	uc003yrz.2	Q96KN1		ENST00000304916.3:c.*59C>A	8.37:g.127568643G>T				RNA	SNP	-	NULL	ENST00000304916.3	37	NULL	CCDS6358.1	8																																																																																			FAM84B	-	-	ENSG00000168672		0.612	FAM84B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM84B	HGNC	protein_coding	OTTHUMT00000381487.1	12	0.00	0	G	NM_174911		127568643	127568643	-1	no_errors	ENST00000517458	ensembl	human	known	69_37n	rna	30	23.08	9	SNP	0.000	T
FANCG	2189	genome.wustl.edu	37	9	35078687	35078687	+	Silent	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:35078687G>T	ENST00000378643.3	-	3	713	c.222C>A	c.(220-222)acC>acA	p.T74T	FANCG_ENST00000476212.1_5'Flank	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	74					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGAAGTTGCAGGTGACAGTCA	0.552			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks																														dbGAP	yes	Rec		Fanconi anaemia G	9	9p13	2189	"""Fanconi anemia, complementation group G"""		L	0													86.0	81.0	83.0					9																	35078687		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"""Fanconi anemia, complementation groups"""	3588	protein-coding gene	gene with protein product	"""DNA repair protein XRCC9"", ""X-ray repair, complementing defective, in Chinese hamster, 9"", ""X-ray repair complementing defective repair in Chinese hamster cells 9"""	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.222C>A	9.37:g.35078687G>T				Silent	SNP	superfamily_Sig_transdc_His_kin_Hpt_dom,smart_TPR_repeat	p.T74	ENST00000378643.3	37	c.222	CCDS6574.1	9																																																																																			FANCG	-	NULL	ENSG00000221829		0.552	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCG	HGNC	protein_coding	OTTHUMT00000052269.1	124	0.00	0	G	NM_004629		35078687	35078687	-1	no_errors	ENST00000378643	ensembl	human	known	69_37n	silent	145	15.70	27	SNP	0.133	T
FANCI	55215	genome.wustl.edu	37	15	89828362	89828362	+	Silent	SNP	C	C	T	rs536499156		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:89828362C>T	ENST00000310775.7	+	18	1820	c.1734C>T	c.(1732-1734)gtC>gtT	p.V578V	FANCI_ENST00000300027.8_Silent_p.V578V	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	578					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					ACAATTCTGTCGCCAATGAAA	0.423								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP											0													216.0	186.0	196.0					15																	89828362		2200	4299	6499	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.1734C>T	15.37:g.89828362C>T			A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	NULL	p.R405C	ENST00000310775.7	37	c.1213	CCDS45346.1	15																																																																																			FANCI	-	NULL	ENSG00000140525		0.423	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCI	HGNC	protein_coding	OTTHUMT00000421140.1	446	0.00	0	C	NM_018193		89828362	89828362	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000561894	ensembl	human	putative	69_37n	missense	91	12.50	13	SNP	0.018	T
FBLIM1	54751	genome.wustl.edu	37	1	16091623	16091623	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:16091623A>G	ENST00000375766.3	+	3	785	c.145A>G	c.(145-147)Atg>Gtg	p.M49V	FBLIM1_ENST00000375771.1_Missense_Mutation_p.M49V|FBLIM1_ENST00000441801.2_Missense_Mutation_p.M49V|FBLIM1_ENST00000400773.1_Missense_Mutation_p.M49V|FBLIM1_ENST00000332305.5_Missense_Mutation_p.M49V	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	49	Filamin-binding.|Intrinsically disordered.|Pro-rich.				cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		TCCTGCCCCCATGAAGACACC	0.706																																						dbGAP											0													23.0	27.0	26.0					1																	16091623		2202	4296	6498	-	-	-	SO:0001583	missense	0				CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.145A>G	1.37:g.16091623A>G	ENSP00000364921:p.Met49Val		B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.M49V	ENST00000375766.3	37	c.145	CCDS163.1	1	.	.	.	.	.	.	.	.	.	.	A	0.019	-1.448970	0.01080	.	.	ENSG00000162458	ENST00000510393;ENST00000375771;ENST00000375766;ENST00000400773;ENST00000483633;ENST00000502739;ENST00000431771;ENST00000441801;ENST00000332305	T;T;T;T;T;T;T;T;T	0.61040	1.04;0.47;0.47;0.14;1.06;0.85;1.06;0.42;0.14	4.84	-8.54	0.00912	.	1.661740	0.03422	N	0.206523	T	0.29945	0.0749	N	0.03324	-0.35	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.23726	-1.0180	10	0.29301	T	0.29	.	10.237	0.43288	0.6176:0.0896:0.2927:0.0	.	49;49;49	Q8WUP2-3;Q8WUP2-2;Q8WUP2	.;.;FBLI1_HUMAN	V	49	ENSP00000421885:M49V;ENSP00000364926:M49V;ENSP00000364921:M49V;ENSP00000383584:M49V;ENSP00000427052:M49V;ENSP00000424920:M49V;ENSP00000402401:M49V;ENSP00000416387:M49V;ENSP00000364920:M49V	ENSP00000364920:M49V	M	+	1	0	FBLIM1	15964210	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.517000	0.02248	-2.084000	0.00866	-1.937000	0.00501	ATG	FBLIM1	-	NULL	ENSG00000162458		0.706	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FBLIM1	HGNC	protein_coding	OTTHUMT00000008511.3	24	0.00	0	A	NM_001024215		16091623	16091623	+1	no_errors	ENST00000441801	ensembl	human	known	69_37n	missense	62	15.07	11	SNP	0.000	G
FCGR1A	2209	genome.wustl.edu	37	1	149759939	149759939	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:149759939G>A	ENST00000369168.4	+	4	379	c.325G>A	c.(325-327)Gtc>Atc	p.V109I	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.3_ENST00000428289.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	109	Ig-like C2-type 2.				antibody-dependent cellular cytotoxicity (GO:0001788)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACTACTGCAGGTCTCCAGCAG	0.488																																						dbGAP											0													86.0	88.0	88.0					1																	149759939		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3613	protein-coding gene	gene with protein product		146760	"""Fc fragment of IgG, high affinity Ia, receptor for (CD64)"""			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.325G>A	1.37:g.149759939G>A	ENSP00000358165:p.Val109Ile		P12315|Q5QNW7|Q92495|Q92663	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V109I	ENST00000369168.4	37	c.325	CCDS933.1	1	.	.	.	.	.	.	.	.	.	.	G	6.534	0.466808	0.12402	.	.	ENSG00000150337	ENST00000444948;ENST00000369168	T;T	0.09350	2.99;2.99	4.1	-2.11	0.07187	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.122620	0.06829	N	0.793626	T	0.03871	0.0109	L	0.53780	1.695	0.30857	N	0.733913	B	0.22800	0.075	B	0.26693	0.072	T	0.43212	-0.9405	10	0.48119	T	0.1	.	6.2834	0.21019	0.1876:0.4037:0.4087:0.0	.	109	P12314	FCGR1_HUMAN	I	17;109	ENSP00000394279:V17I;ENSP00000358165:V109I	ENSP00000358165:V109I	V	+	1	0	FCGR1A	148026563	0.062000	0.20869	0.047000	0.18901	0.259000	0.26198	0.120000	0.15647	-0.512000	0.06505	0.514000	0.50259	GTC	FCGR1A	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000150337		0.488	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGR1A	HGNC	protein_coding	OTTHUMT00000033446.1	364	0.00	0	G	NM_000566		149759939	149759939	+1	no_errors	ENST00000369168	ensembl	human	known	69_37n	missense	359	12.01	49	SNP	0.142	A
FCGR3A	2214	genome.wustl.edu	37	1	161600157	161600157	+	Splice_Site	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:161600157C>T	ENST00000540048.1	-	2	94		c.e2+1		FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000531221.1_Splice_Site|FCGR3B_ENST00000367964.2_Splice_Site|FCGR3B_ENST00000294800.3_Splice_Site			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGCTGACTCACCAGTCCGCAT	0.428																																						dbGAP											0													35.0	43.0	40.0					1																	161600157		2189	4298	6487	-	-	-	SO:0001630	splice_region_variant	0			BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+1G>A	1.37:g.161600157C>T			A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Splice_Site	SNP	-	e2+1	ENST00000540048.1	37	c.61+1		1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430959	0.25726	.	.	ENSG00000203747;ENSG00000162747;ENSG00000162747;ENSG00000162747;ENSG00000162747;ENSG00000162747	ENST00000540048;ENST00000367964;ENST00000294800;ENST00000531221;ENST00000421702;ENST00000534776	.	.	.	3.13	3.13	0.36017	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1306	0.42676	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FCGR3A;FCGR3B	159866781	1.000000	0.71417	0.607000	0.28956	0.108000	0.19459	1.956000	0.40382	1.455000	0.47813	0.388000	0.25769	.	FCGR3A	-	-	ENSG00000203747		0.428	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	FCGR3A	HGNC	protein_coding		192	0.00	0	C	NM_000569	Intron	161600157	161600157	-1	no_errors	ENST00000540048	ensembl	human	known	69_37n	splice_site	79	14.13	13	SNP	0.992	T
FCGRT	2217	genome.wustl.edu	37	19	50027779	50027779	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:50027779G>A	ENST00000221466.5	+	5	1103	c.617G>A	c.(616-618)cGc>cAc	p.R206H	FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000596975.1_Missense_Mutation_p.R114H|FCGRT_ENST00000426395.3_Missense_Mutation_p.R206H	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	206	Alpha-3.|Ig-like C1-type.				antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		CCCTCCATGCGCCTGAAGGCC	0.632																																						dbGAP											0													58.0	57.0	57.0					19																	50027779		2203	4300	6503	-	-	-	SO:0001583	missense	0			U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"""Immunoglobulin superfamily / C1-set domain containing"""	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.617G>A	19.37:g.50027779G>A	ENSP00000221466:p.Arg206His		Q5HYM5|Q9HBV7|Q9NZ19	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.R206H	ENST00000221466.5	37	c.617	CCDS12770.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.71|10.71	1.427841|1.427841	0.25726|0.25726	.|.	.|.	ENSG00000104870|ENSG00000104870	ENST00000415900;ENST00000452439|ENST00000221466;ENST00000426395	.|T;T	.|0.00608	.|6.25;6.25	4.37|4.37	4.37|4.37	0.52481|0.52481	.|Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.41396	.|D	.|0.000895	T|T	0.00906|0.00906	0.0030|0.0030	N|N	0.21142|0.21142	0.635|0.635	0.25110|0.25110	N|N	0.990726|0.990726	.|D	.|0.89917	.|1.0	.|D	.|0.67382	.|0.951	T|T	0.55127|0.55127	-0.8189|-0.8189	6|10	0.87932|0.02654	D|T	0|1	.|.	12.6081|12.6081	0.56535|0.56535	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|206	.|P55899	.|FCGRN_HUMAN	T|H	152;235|206	.|ENSP00000221466:R206H;ENSP00000410798:R206H	ENSP00000391574:A152T|ENSP00000221466:R206H	A|R	+|+	1|2	0|0	FCGRT|FCGRT	54719591|54719591	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	4.198000|4.198000	0.58419|0.58419	2.434000|2.434000	0.82447|0.82447	0.462000|0.462000	0.41574|0.41574	GCC|CGC	FCGRT	-	pfscan_Ig-like	ENSG00000104870		0.632	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGRT	HGNC	protein_coding	OTTHUMT00000465267.1	55	0.00	0	G			50027779	50027779	+1	no_errors	ENST00000221466	ensembl	human	known	69_37n	missense	122	15.86	23	SNP	1.000	A
FCHSD2	9873	genome.wustl.edu	37	11	72554333	72554333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:72554333delT	ENST00000409418.4	-	16	1951	c.1568delA	c.(1567-1569)aagfs	p.K523fs	FCHSD2_ENST00000409853.1_Frame_Shift_Del_p.K467fs|FCHSD2_ENST00000409314.1_Frame_Shift_Del_p.K547fs|FCHSD2_ENST00000458644.2_Frame_Shift_Del_p.K387fs|FCHSD2_ENST00000311172.7_Frame_Shift_Del_p.K467fs|FCHSD2_ENST00000409263.1_5'UTR|ATG16L2_ENST00000534905.1_3'UTR	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	523	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.									endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CTGTAGGTACTTTTCTGGCAC	0.493																																						dbGAP											0													132.0	121.0	125.0					11																	72554333		2200	4293	6493	-	-	-	SO:0001589	frameshift_variant	0			AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.1568delA	11.37:g.72554333delT	ENSP00000386722:p.Lys523fs		B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Frame_Shift_Del	DEL	pfam_SH3_domain,pfam_FCH,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain	p.K523fs	ENST00000409418.4	37	c.1568	CCDS8218.2	11																																																																																			FCHSD2	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000137478		0.493	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD2	HGNC	protein_coding	OTTHUMT00000329429.2	235	0.00	0	T	NM_014824		72554333	72554333	-1	no_errors	ENST00000409418	ensembl	human	known	69_37n	frame_shift_del	115	13.33	18	DEL	1.000	-
FER1L6	654463	genome.wustl.edu	37	8	124968316	124968316	+	Splice_Site	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:124968316T>C	ENST00000522917.1	+	2	282		c.e2+2		FER1L6_ENST00000399018.1_Splice_Site	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6							integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTGCGAAAGGTGAGGCTGGGG	0.532																																						dbGAP											0													37.0	41.0	40.0					8																	124968316		1965	4150	6115	-	-	-	SO:0001630	splice_region_variant	0			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.76+2T>C	8.37:g.124968316T>C				Splice_Site	SNP	-	e1+2	ENST00000522917.1	37	c.76+2	CCDS43767.1	8	.	.	.	.	.	.	.	.	.	.	T	13.43	2.233515	0.39498	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6829	0.62496	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FER1L6	125037497	1.000000	0.71417	1.000000	0.80357	0.401000	0.30781	4.138000	0.58017	2.308000	0.77769	0.533000	0.62120	.	FER1L6	-	-	ENSG00000214814		0.532	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	118	0.83	1	T	NM_001039112	Intron	124968316	124968316	+1	no_errors	ENST00000399018	ensembl	human	known	69_37n	splice_site	67	12.99	10	SNP	1.000	C
FGF11	2256	genome.wustl.edu	37	17	7345991	7345991	+	Missense_Mutation	SNP	C	C	T	rs4151131	byFrequency	TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:7345991C>T	ENST00000293829.4	+	4	1081	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	FGF11_ENST00000575082.1_Missense_Mutation_p.R39C|RP11-104H15.8_ENST00000576615.1_RNA|CHRNB1_ENST00000306071.2_5'Flank|CHRNB1_ENST00000576360.1_5'Flank|CHRNB1_ENST00000536404.2_5'Flank|FGF11_ENST00000575398.1_Missense_Mutation_p.R39C|FGF11_ENST00000575235.1_Missense_Mutation_p.R39C|FGF11_ENST00000572907.1_Missense_Mutation_p.R39C|RP11-104H15.10_ENST00000575331.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA	NM_004112.2	NP_004103.1	Q92914	FGF11_HUMAN	fibroblast growth factor 11	163			R -> G. {ECO:0000269|Ref.3}.		cell-cell signaling (GO:0007267)|nervous system development (GO:0007399)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	growth factor activity (GO:0008083)			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				TGCTCTCTACCGCCAGCGTCG	0.552													C|||	8	0.00159744	0.0	0.0	5008	,	,		19395	0.006		0.0	False		,,,				2504	0.002					dbGAP											0													170.0	171.0	171.0					17																	7345991		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11105.1	17p13.1	2008-07-18			ENSG00000161958	ENSG00000161958			3667	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 3"""	601514				8790420	Standard	NM_004112		Approved	FHF3, FLJ16061, MGC45269, MGC102953	uc002ggz.3	Q92914	OTTHUMG00000108136	ENST00000293829.4:c.487C>T	17.37:g.7345991C>T	ENSP00000293829:p.Arg163Cys		Q2YDX8	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.R163C	ENST00000293829.4	37	c.487	CCDS11105.1	17	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601750	0.66445	.	.	ENSG00000161958	ENST00000293829	T	0.68479	-0.33	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.85418	0.5692	M	0.91038	3.17	0.51767	D	0.999933	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.88118	0.2830	10	0.87932	D	0	.	16.518	0.84306	0.0:1.0:0.0:0.0	rs4151131;rs4151131	104;163	B7Z1C3;Q92914	.;FGF11_HUMAN	C	163	ENSP00000293829:R163C	ENSP00000293829:R163C	R	+	1	0	FGF11	7286715	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	0.370000	0.20433	2.847000	0.97988	0.591000	0.81541	CGC	FGF11	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF	ENSG00000161958		0.552	FGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF11	HGNC	protein_coding	OTTHUMT00000226939.3	131	0.00	0	C	NM_004112		7345991	7345991	+1	no_errors	ENST00000293829	ensembl	human	known	69_37n	missense	168	16.42	33	SNP	1.000	T
FGF8	2253	genome.wustl.edu	37	10	103530238	103530238	+	Missense_Mutation	SNP	G	G	A	rs548987968		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:103530238G>A	ENST00000344255.3	-	6	549	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	FGF8_ENST00000320185.2_Missense_Mutation_p.R195W|FGF8_ENST00000347978.2_Missense_Mutation_p.R166W|FGF8_ENST00000346714.3_Missense_Mutation_p.R155W|FGF8_ENST00000485728.1_5'UTR			P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	184					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in mesendoderm migration (GO:0090134)|cell proliferation in forebrain (GO:0021846)|corticotropin hormone secreting cell differentiation (GO:0060128)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral axon guidance (GO:0033563)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|forebrain neuron development (GO:0021884)|gastrulation (GO:0007369)|gonad development (GO:0008406)|heart looping (GO:0001947)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lung morphogenesis (GO:0060425)|male genitalia development (GO:0030539)|MAPK cascade (GO:0000165)|mesodermal cell migration (GO:0008078)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|midbrain-hindbrain boundary development (GO:0030917)|motor neuron axon guidance (GO:0008045)|negative regulation of cardiac muscle tissue development (GO:0055026)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate morphogenesis (GO:0001839)|neuroepithelial cell differentiation (GO:0060563)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|pallium development (GO:0021543)|patterning of blood vessels (GO:0001569)|pharyngeal system development (GO:0060037)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitosis (GO:0045840)|positive regulation of organ growth (GO:0046622)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)|signal transduction involved in regulation of gene expression (GO:0023019)|subpallium development (GO:0021544)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		TGGTGCTGCCGCGTCTTGGAG	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14817	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													41.0	40.0	41.0					10																	103530238		2203	4300	6503	-	-	-	SO:0001583	missense	0			D38752	CCDS7515.1, CCDS7516.1, CCDS7517.1, CCDS7518.1, CCDS73185.1	10q25-q26	2014-01-30			ENSG00000107831	ENSG00000107831		"""Endogenous ligands"""	3686	protein-coding gene	gene with protein product		600483				8595889	Standard	NM_033164		Approved	AIGF	uc001ktq.2	P55075	OTTHUMG00000018940	ENST00000344255.3:c.550C>T	10.37:g.103530238G>A	ENSP00000340039:p.Arg184Trp		A1A514|Q14915|Q15766	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF	p.R195W	ENST00000344255.3	37	c.583	CCDS7517.1	10	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219951	0.58560	.	.	ENSG00000107831	ENST00000344255;ENST00000320185;ENST00000346714;ENST00000347978	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	3.79	2.83	0.33086	.	0.000000	0.85682	D	0.000000	D	0.91536	0.7327	M	0.91249	3.19	0.48288	D	0.999622	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.963;0.985;0.987;1.0	D	0.92372	0.5906	10	0.87932	D	0	.	10.6412	0.45594	0.0:0.0:0.6563:0.3437	.	155;166;195;184	P55075-2;P55075-3;P55075-4;P55075	.;.;.;FGF8_HUMAN	W	184;195;155;166	ENSP00000340039:R184W;ENSP00000321797:R195W;ENSP00000344306:R155W;ENSP00000321945:R166W	ENSP00000321797:R195W	R	-	1	2	FGF8	103520228	0.964000	0.33143	0.999000	0.59377	0.995000	0.86356	1.651000	0.37302	1.679000	0.50963	0.455000	0.32223	CGG	FGF8	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF	ENSG00000107831		0.642	FGF8-004	KNOWN	basic|CCDS	protein_coding	FGF8	HGNC	protein_coding	OTTHUMT00000049999.1	75	0.00	0	G	NM_006119, NM_033165		103530238	103530238	-1	no_errors	ENST00000320185	ensembl	human	known	69_37n	missense	134	12.42	19	SNP	0.798	A
FGR	2268	genome.wustl.edu	37	1	27942257	27942257	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:27942257T>C	ENST00000374005.3	-	8	1069	c.781A>G	c.(781-783)Agc>Ggc	p.S261G	FGR_ENST00000545953.1_Missense_Mutation_p.S195G|FGR_ENST00000399173.1_Missense_Mutation_p.S261G|FGR_ENST00000374004.1_Missense_Mutation_p.S261G	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	261					blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GTGATGGAGCTGCGGCTGATC	0.701																																						dbGAP											0													15.0	17.0	17.0					1																	27942257		2193	4293	6486	-	-	-	SO:0001583	missense	0			BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"""SH2 domain containing"""	3697	protein-coding gene	gene with protein product		164940	"""Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog"", ""v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog"", ""feline Gardner-Rasheed sarcoma viral oncogene homolog"""	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.781A>G	1.37:g.27942257T>C	ENSP00000363117:p.Ser261Gly		D3DPL7|Q9UIQ3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.S261G	ENST00000374005.3	37	c.781	CCDS305.1	1	.	.	.	.	.	.	.	.	.	.	T	15.34	2.804204	0.50315	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003;ENST00000457296	T;T;T;T;T;T	0.10860	2.83;2.83;2.83;2.83;2.83;2.83	4.62	-0.581	0.11713	Protein kinase-like domain (1);SH2 motif (1);	1.169330	0.06144	N	0.672945	T	0.14527	0.0351	L	0.61036	1.89	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.42531	-0.9446	10	0.87932	D	0	.	10.88	0.46933	0.0:0.7322:0.0:0.2678	.	261	P09769	FGR_HUMAN	G	261;195;261;261;261;261	ENSP00000363117:S261G;ENSP00000445302:S195G;ENSP00000382126:S261G;ENSP00000363116:S261G;ENSP00000363115:S261G;ENSP00000407670:S261G	ENSP00000363115:S261G	S	-	1	0	FGR	27814844	0.054000	0.20591	0.065000	0.19835	0.990000	0.78478	1.562000	0.36353	-0.012000	0.14223	0.459000	0.35465	AGC	FGR	-	superfamily_Kinase-like_dom	ENSG00000000938		0.701	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGR	HGNC	protein_coding	OTTHUMT00000009772.1	39	0.00	0	T	NM_005248		27942257	27942257	-1	no_errors	ENST00000374003	ensembl	human	known	69_37n	missense	74	12.94	11	SNP	0.072	C
FHOD3	80206	genome.wustl.edu	37	18	34298455	34298455	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr18:34298455A>G	ENST00000359247.4	+	15	2618	c.2618A>G	c.(2617-2619)cAg>cGg	p.Q873R	FHOD3_ENST00000445677.1_Missense_Mutation_p.Q852R|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000257209.4_Missense_Mutation_p.Q890R|FHOD3_ENST00000592128.1_5'Flank|FHOD3_ENST00000590592.1_Missense_Mutation_p.Q1065R	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	873					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AACGCTCCTCAGGGCTTAGGG	0.562																																						dbGAP											0													81.0	72.0	75.0					18																	34298455		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.2618A>G	18.37:g.34298455A>G	ENSP00000352186:p.Gln873Arg		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.Q890R	ENST00000359247.4	37	c.2669		18	.	.	.	.	.	.	.	.	.	.	A	12.95	2.091092	0.36855	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.30714	1.52;1.52;1.52	4.46	3.29	0.37713	Actin-binding FH2 (1);	0.336020	0.29040	N	0.013325	T	0.36026	0.0952	M	0.66939	2.045	0.30773	N	0.742827	B;B;D	0.59357	0.011;0.003;0.985	B;B;P	0.50490	0.007;0.002;0.642	T	0.34378	-0.9831	10	0.19590	T	0.45	.	8.7801	0.34787	0.9071:0.0:0.0929:0.0	.	852;873;890	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	R	890;873;852	ENSP00000257209:Q890R;ENSP00000352186:Q873R;ENSP00000411430:Q852R	ENSP00000257209:Q890R	Q	+	2	0	FHOD3	32552453	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.612000	0.61169	0.586000	0.29626	0.454000	0.30748	CAG	FHOD3	-	superfamily_FH2_actin-bd	ENSG00000134775		0.562	FHOD3-001	PUTATIVE	basic	protein_coding	FHOD3	HGNC	protein_coding	OTTHUMT00000460884.1	186	0.00	0	A	XM_371114		34298455	34298455	+1	no_errors	ENST00000257209	ensembl	human	known	69_37n	missense	120	15.49	22	SNP	1.000	G
FHOD3	80206	genome.wustl.edu	37	18	34324133	34324133	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr18:34324133G>A	ENST00000359247.4	+	19	3442	c.3442G>A	c.(3442-3444)Ggg>Agg	p.G1148R	FHOD3_ENST00000445677.1_Missense_Mutation_p.G1127R|FHOD3_ENST00000591635.1_Missense_Mutation_p.G361R|FHOD3_ENST00000257209.4_Missense_Mutation_p.G1165R|FHOD3_ENST00000592128.1_Missense_Mutation_p.G144R|FHOD3_ENST00000590592.1_Missense_Mutation_p.G1340R	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1148	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.G1165R(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CTCGGAGATCGGGGCCATCAC	0.557																																						dbGAP											1	Substitution - Missense(1)	ovary(1)											69.0	60.0	63.0					18																	34324133		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.3442G>A	18.37:g.34324133G>A	ENSP00000352186:p.Gly1148Arg		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.G1165R	ENST00000359247.4	37	c.3493		18	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453987	0.84209	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.16743	2.32;2.32;2.32	5.29	4.39	0.52855	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.45357	0.1338	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.989;1.0;1.0;0.985	T	0.49341	-0.8950	10	0.48119	T	0.1	.	13.7549	0.62930	0.0:0.0:0.8449:0.1551	.	369;1127;1148;1165	E7ETX5;Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;.;FHOD3_HUMAN;.	R	1165;1148;1127	ENSP00000257209:G1165R;ENSP00000352186:G1148R;ENSP00000411430:G1127R	ENSP00000257209:G1165R	G	+	1	0	FHOD3	32578131	1.000000	0.71417	0.943000	0.38184	0.989000	0.77384	9.869000	0.99810	1.167000	0.42706	0.563000	0.77884	GGG	FHOD3	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000134775		0.557	FHOD3-001	PUTATIVE	basic	protein_coding	FHOD3	HGNC	protein_coding	OTTHUMT00000460884.1	53	0.00	0	G	XM_371114		34324133	34324133	+1	no_errors	ENST00000257209	ensembl	human	known	69_37n	missense	71	17.44	15	SNP	1.000	A
FIBCD1	84929	genome.wustl.edu	37	9	133799759	133799759	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:133799759T>C	ENST00000372338.4	-	3	819	c.577A>G	c.(577-579)Atg>Gtg	p.M193V	FIBCD1_ENST00000253018.4_Missense_Mutation_p.M35V|FIBCD1_ENST00000448616.1_Missense_Mutation_p.M193V|FIBCD1_ENST00000372337.2_Missense_Mutation_p.M35V	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	193						integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		AGGTGAGCCATGTGGCCCTGG	0.687																																						dbGAP											0													12.0	16.0	15.0					9																	133799759		2190	4286	6476	-	-	-	SO:0001583	missense	0			AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"""Fibrinogen C domain containing"""	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.577A>G	9.37:g.133799759T>C	ENSP00000361413:p.Met193Val		A3KFK0|Q6UXK6|Q96SJ7	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.M193V	ENST00000372338.4	37	c.577	CCDS6937.1	9	.	.	.	.	.	.	.	.	.	.	T	2.125	-0.400522	0.04865	.	.	ENSG00000130720	ENST00000448616;ENST00000372338;ENST00000372337;ENST00000253018;ENST00000451466	T;T;T;T;T	0.50277	0.75;0.75;0.76;1.28;1.3	5.26	1.39	0.22231	.	0.896444	0.09633	N	0.775971	T	0.27697	0.0681	N	0.14661	0.345	0.35047	D	0.760253	B	0.02656	0.0	B	0.01281	0.0	T	0.25187	-1.0139	10	0.21014	T	0.42	.	7.465	0.27316	0.0:0.0744:0.435:0.4906	.	193	Q8N539	FBCD1_HUMAN	V	193;193;35;35;193	ENSP00000414501:M193V;ENSP00000361413:M193V;ENSP00000361412:M35V;ENSP00000253018:M35V;ENSP00000393894:M193V	ENSP00000253018:M35V	M	-	1	0	FIBCD1	132789580	1.000000	0.71417	0.998000	0.56505	0.584000	0.36387	0.872000	0.28037	-0.015000	0.14150	0.379000	0.24179	ATG	FIBCD1	-	NULL	ENSG00000130720		0.687	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIBCD1	HGNC	protein_coding	OTTHUMT00000054687.2	30	0.00	0	T	NM_032843		133799759	133799759	-1	no_errors	ENST00000372338	ensembl	human	known	69_37n	missense	27	20.59	7	SNP	1.000	C
FITM1	161247	genome.wustl.edu	37	14	24601441	24601441	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:24601441G>T	ENST00000267426.5	+	2	577	c.288G>T	c.(286-288)tgG>tgT	p.W96C	FITM1_ENST00000559294.1_5'UTR	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	96					lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						ATTCAGCCTGGGGCTGGACAT	0.557																																						dbGAP											0													95.0	99.0	98.0					14																	24601441		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9611.1	14q12	2009-07-09			ENSG00000139914	ENSG00000139914			33714	protein-coding gene	gene with protein product	"""fat-inducing transcript 1"""	612028				18160536	Standard	NM_203402		Approved	FIT1	uc001wmf.2	A5D6W6	OTTHUMG00000133476	ENST00000267426.5:c.288G>T	14.37:g.24601441G>T	ENSP00000267426:p.Trp96Cys		Q8IUQ7	Missense_Mutation	SNP	pfam_FIT	p.W96C	ENST00000267426.5	37	c.288	CCDS9611.1	14	.	.	.	.	.	.	.	.	.	.	g	12.19	1.863273	0.32884	.	.	ENSG00000139914	ENST00000267426	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.68311	0.2987	M	0.80422	2.495	0.80722	D	1	B	0.20459	0.045	B	0.24394	0.053	T	0.68198	-0.5472	9	0.54805	T	0.06	-10.3498	11.6575	0.51325	0.0:0.0:0.8228:0.1772	.	96	A5D6W6	FITM1_HUMAN	C	96	.	ENSP00000267426:W96C	W	+	3	0	FITM1	23671281	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.329000	0.72920	2.506000	0.84524	0.462000	0.41574	TGG	FITM1	-	pfam_FIT	ENSG00000139914		0.557	FITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FITM1	HGNC	protein_coding	OTTHUMT00000257366.1	125	0.00	0	G	NM_203402		24601441	24601441	+1	no_errors	ENST00000267426	ensembl	human	known	69_37n	missense	197	11.26	25	SNP	1.000	T
FKBP15	23307	genome.wustl.edu	37	9	115928409	115928409	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:115928409C>T	ENST00000238256.3	-	28	3726	c.3609G>A	c.(3607-3609)acG>acA	p.T1203T		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1203					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CAAAAAGGGGCGTTGGGGGCG	0.527																																						dbGAP											0													57.0	60.0	59.0					9																	115928409		1992	4172	6164	-	-	-	SO:0001819	synonymous_variant	0			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.3609G>A	9.37:g.115928409C>T			Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Silent	SNP	pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom	p.T1203	ENST00000238256.3	37	c.3609	CCDS48007.1	9																																																																																			FKBP15	-	NULL	ENSG00000119321		0.527	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP15	HGNC	protein_coding		310	0.32	1	C	NM_015258		115928409	115928409	-1	no_errors	ENST00000238256	ensembl	human	known	69_37n	silent	290	12.05	40	SNP	0.997	T
FLG2	388698	genome.wustl.edu	37	1	152327898	152327898	+	Silent	SNP	A	A	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:152327898A>T	ENST00000388718.5	-	3	2436	c.2364T>A	c.(2362-2364)tcT>tcA	p.S788S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	788	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTCTGTCTAGACCCATGTT	0.517																																						dbGAP											0													252.0	225.0	234.0					1																	152327898		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2364T>A	1.37:g.152327898A>T			Q9H4U1	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.S788	ENST00000388718.5	37	c.2364	CCDS30861.1	1																																																																																			FLG2	-	NULL	ENSG00000143520		0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	789	0.25	2	A	NM_001014342		152327898	152327898	-1	no_errors	ENST00000388718	ensembl	human	known	69_37n	silent	168	11.52	22	SNP	0.003	T
FLG2	388698	genome.wustl.edu	37	1	152327925	152327925	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:152327925C>T	ENST00000388718.5	-	3	2409	c.2337G>A	c.(2335-2337)caG>caA	p.Q779Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	779	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCAGATGACTGACTTGAGC	0.502																																						dbGAP											0													332.0	279.0	297.0					1																	152327925		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2337G>A	1.37:g.152327925C>T			Q9H4U1	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.Q779	ENST00000388718.5	37	c.2337	CCDS30861.1	1																																																																																			FLG2	-	NULL	ENSG00000143520		0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	770	0.26	2	C	NM_001014342		152327925	152327925	-1	no_errors	ENST00000388718	ensembl	human	known	69_37n	silent	155	10.40	18	SNP	0.099	T
FLG2	388698	genome.wustl.edu	37	1	152328381	152328381	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:152328381C>T	ENST00000388718.5	-	3	1953	c.1881G>A	c.(1879-1881)caG>caA	p.Q627Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	627	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCAGATGACTGACTTGAGC	0.498																																						dbGAP											0													158.0	224.0	201.0					1																	152328381		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1881G>A	1.37:g.152328381C>T			Q9H4U1	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.Q627	ENST00000388718.5	37	c.1881	CCDS30861.1	1																																																																																			FLG2	-	NULL	ENSG00000143520		0.498	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	669	0.30	2	C	NM_001014342		152328381	152328381	-1	no_errors	ENST00000388718	ensembl	human	known	69_37n	silent	143	10.06	16	SNP	0.000	T
FLNA	2316	genome.wustl.edu	37	X	153583246	153583246	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:153583246T>C	ENST00000369850.3	-	31	5400	c.5164A>G	c.(5164-5166)Atc>Gtc	p.I1722V	FLNA_ENST00000360319.4_Missense_Mutation_p.I1714V|FLNA_ENST00000344736.4_Missense_Mutation_p.I1714V|FLNA_ENST00000422373.1_Missense_Mutation_p.I1714V|FLNA_ENST00000369856.3_5'UTR	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1722					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCACACAGATGACGTATTTG	0.627																																						dbGAP											0													40.0	44.0	43.0					X																	153583246		2168	4238	6406	-	-	-	SO:0001583	missense	0			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.5164A>G	X.37:g.153583246T>C	ENSP00000358866:p.Ile1722Val		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.I1722V	ENST00000369850.3	37	c.5164	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	T	14.10	2.435162	0.43224	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	5.12	5.12	0.69794	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90920	0.7146	N	0.25144	0.715	0.80722	D	1	P;B	0.52842	0.956;0.374	D;B	0.68621	0.959;0.326	D	0.90532	0.4496	10	0.36615	T	0.2	.	14.2282	0.65873	0.0:0.0:0.0:1.0	.	1714;1722	P21333-2;P21333	.;FLNA_HUMAN	V	1714;1695;1714;1722;1714	ENSP00000353467:I1714V;ENSP00000416926:I1714V;ENSP00000358866:I1722V;ENSP00000358863:I1714V	ENSP00000358863:I1714V	I	-	1	0	FLNA	153236440	1.000000	0.71417	0.977000	0.42913	0.380000	0.30137	7.957000	0.87870	1.806000	0.52798	0.486000	0.48141	ATC	FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.627	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	126	0.00	0	T			153583246	153583246	-1	no_errors	ENST00000369850	ensembl	human	known	69_37n	missense	177	14.90	31	SNP	1.000	C
FLNA	2316	genome.wustl.edu	37	X	153585990	153585990	+	Splice_Site	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:153585990T>C	ENST00000369850.3	-	29	4993	c.4757A>G	c.(4756-4758)gAt>gGt	p.D1586G	FLNA_ENST00000360319.4_Splice_Site_p.D1586G|FLNA_ENST00000344736.4_Splice_Site_p.D1586G|FLNA_ENST00000422373.1_Splice_Site_p.D1586G|FLNA_ENST00000369856.3_5'UTR	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1586	Interaction with furin. {ECO:0000250}.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCTTCGGGATCCTGTGTGGC	0.632																																						dbGAP											0													117.0	112.0	114.0					X																	153585990		2153	4226	6379	-	-	-	SO:0001630	splice_region_variant	0			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.4756-1A>G	X.37:g.153585990T>C			E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.D1586G	ENST00000369850.3	37	c.4757	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	T	14.22	2.469355	0.43839	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.65	5.22	5.22	0.72569	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90058	0.6895	L	0.33137	0.985	0.80722	D	1	P;B	0.43392	0.805;0.154	P;B	0.52627	0.704;0.282	D	0.89449	0.3729	10	0.38643	T	0.18	.	14.4215	0.67187	0.0:0.0:0.0:1.0	.	1586;1586	P21333-2;P21333	.;FLNA_HUMAN	G	1586;1559;1586;1586;1586	ENSP00000353467:D1586G;ENSP00000416926:D1586G;ENSP00000358866:D1586G;ENSP00000358863:D1586G	ENSP00000358863:D1586G	D	-	2	0	FLNA	153239184	1.000000	0.71417	1.000000	0.80357	0.113000	0.19764	7.970000	0.88000	1.853000	0.53794	0.430000	0.28490	GAT	FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.632	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	472	0.00	0	T		Missense_Mutation	153585990	153585990	-1	no_errors	ENST00000369850	ensembl	human	known	69_37n	missense	576	12.80	85	SNP	1.000	C
FLNB	2317	genome.wustl.edu	37	3	58089788	58089788	+	Frame_Shift_Del	DEL	G	G	-	rs145086495		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:58089788delG	ENST00000295956.4	+	10	1751	c.1586delG	c.(1585-1587)tggfs	p.W529fs	FLNB_ENST00000419752.2_Frame_Shift_Del_p.W360fs|FLNB_ENST00000429972.2_Frame_Shift_Del_p.W529fs|FLNB_ENST00000493452.1_Frame_Shift_Del_p.W360fs|FLNB_ENST00000490882.1_Frame_Shift_Del_p.W529fs|FLNB_ENST00000358537.3_Frame_Shift_Del_p.W529fs|FLNB_ENST00000357272.4_Frame_Shift_Del_p.W529fs|FLNB_ENST00000348383.5_Frame_Shift_Del_p.W529fs	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	529					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCCATCACATGGGGGGGACAC	0.592																																						dbGAP											0													52.0	52.0	52.0					3																	58089788		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.1586delG	3.37:g.58089788delG	ENSP00000295956:p.Trp529fs		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Frame_Shift_Del	DEL	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.G531fs	ENST00000295956.4	37	c.1586	CCDS2885.1	3																																																																																			FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000136068		0.592	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	59	0.00	0	G	NM_001457		58089788	58089788	+1	no_errors	ENST00000295956	ensembl	human	known	69_37n	frame_shift_del	23	20.69	6	DEL	1.000	-
FLT1	2321	genome.wustl.edu	37	13	28877392	28877392	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr13:28877392T>C	ENST00000282397.4	-	30	4180	c.3929A>G	c.(3928-3930)gAc>gGc	p.D1310G	FLT1_ENST00000543394.1_Missense_Mutation_p.D333G|FLT1_ENST00000540678.1_Missense_Mutation_p.D528G	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1310					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|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 phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCAGCGTGGTCGTAGGTGAA	0.577																																						dbGAP											0													99.0	86.0	90.0					13																	28877392		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3929A>G	13.37:g.28877392T>C	ENSP00000282397:p.Asp1310Gly		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.D1310G	ENST00000282397.4	37	c.3929	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	T	2.565	-0.301030	0.05495	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	T;T;T	0.79247	-0.99;-1.25;-1.23	4.76	2.22	0.28083	.	0.131761	0.48767	D	0.000165	T	0.60702	0.2289	L	0.31926	0.97	0.29529	N	0.8529	B	0.06786	0.001	B	0.06405	0.002	T	0.47636	-0.9102	10	0.27785	T	0.31	.	3.9534	0.09379	0.0:0.2046:0.1832:0.6122	.	1310	P17948	VGFR1_HUMAN	G	1310;333;528	ENSP00000282397:D1310G;ENSP00000437841:D333G;ENSP00000443311:D528G	ENSP00000282397:D1310G	D	-	2	0	FLT1	27775392	0.993000	0.37304	0.005000	0.12908	0.000000	0.00434	3.194000	0.51005	0.169000	0.19679	-0.379000	0.06801	GAC	FLT1	-	NULL	ENSG00000102755		0.577	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	85	0.00	0	T			28877392	28877392	-1	no_errors	ENST00000282397	ensembl	human	known	69_37n	missense	34	22.73	10	SNP	0.036	C
FMNL1	752	genome.wustl.edu	37	17	43318501	43318501	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:43318501A>G	ENST00000331495.3	+	13	1572	c.1236A>G	c.(1234-1236)acA>acG	p.T412T	FMNL1_ENST00000587489.1_5'UTR|FMNL1_ENST00000328118.3_Silent_p.T412T|CTD-2020K17.3_ENST00000587534.1_RNA|CTD-2020K17.3_ENST00000393507.2_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	412	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TACAGCTGACAGAGCGGCTTC	0.642																																					GBM(164;1247 1997 8702 11086 51972)	dbGAP											0													41.0	35.0	37.0					17																	43318501		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.1236A>G	17.37:g.43318501A>G			D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Silent	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.T412	ENST00000331495.3	37	c.1236	CCDS11497.1	17																																																																																			FMNL1	-	pfam_Drf_FH3,superfamily_ARM-type_fold	ENSG00000184922		0.642	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL1	HGNC	protein_coding	OTTHUMT00000450198.1	36	0.00	0	A	NM_005892		43318501	43318501	+1	no_errors	ENST00000328118	ensembl	human	known	69_37n	silent	53	10.17	6	SNP	1.000	G
FN1	2335	genome.wustl.edu	37	2	216257689	216257689	+	Intron	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:216257689C>T	ENST00000359671.1	-	25	4062				FN1_ENST00000443816.1_Intron|FN1_ENST00000356005.4_Intron|FN1_ENST00000354785.4_Missense_Mutation_p.G1345D|FN1_ENST00000446046.1_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000323926.6_Missense_Mutation_p.G1345D|FN1_ENST00000357867.4_Intron|FN1_ENST00000336916.4_Intron|FN1_ENST00000432072.2_Missense_Mutation_p.G1345D|FN1_ENST00000421182.1_Intron|FN1_ENST00000346544.3_Intron|FN1_ENST00000345488.5_Intron			P02751	FINC_HUMAN	fibronectin 1						acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GGCACTCTCGCCGCCATTAAT	0.473																																						dbGAP											0													69.0	70.0	70.0					2																	216257689		1926	4133	6059	-	-	-	SO:0001627	intron_variant	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3797-1152G>A	2.37:g.216257689C>T			B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.G1345D	ENST00000359671.1	37	c.4034		2	.	.	.	.	.	.	.	.	.	.	C	18.18	3.565629	0.65651	.	.	ENSG00000115414	ENST00000323926;ENST00000354785;ENST00000265313;ENST00000432072;ENST00000456923	T;T;T;T	0.65916	-0.12;-0.12;-0.12;-0.18	5.73	4.83	0.62350	.	0.083107	0.50627	D	0.000105	T	0.71978	0.3404	L	0.38175	1.15	0.80722	D	1	D;D;D;D	0.89917	1.0;0.98;1.0;1.0	D;P;D;D	0.97110	0.998;0.683;1.0;0.999	T	0.74748	-0.3560	10	0.56958	D	0.05	.	16.8645	0.86025	0.0:0.8715:0.1285:0.0	.	1345;1345;1345;1345	P02751-13;P02751-7;E7ERA1;P02751-15	.;.;.;.	D	1345;1345;1345;1345;61	ENSP00000323534:G1345D;ENSP00000346839:G1345D;ENSP00000399538:G1345D;ENSP00000416139:G61D	ENSP00000265313:G1345D	G	-	2	0	FN1	215965934	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.500000	0.60387	1.517000	0.48917	0.655000	0.94253	GGC	FN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000115414		0.473	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		159	0.00	0	C	NM_212476		216257689	216257689	-1	no_errors	ENST00000354785	ensembl	human	known	69_37n	missense	26	23.53	8	SNP	1.000	T
FOCAD	54914	genome.wustl.edu	37	9	20789451	20789451	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:20789451C>T	ENST00000380249.1	+	13	1663	c.1299C>T	c.(1297-1299)gaC>gaT	p.D433D	SNORA30_ENST00000365319.1_RNA|FOCAD_ENST00000338382.6_Silent_p.D433D	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	433						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											CTGCAAGTGACTGGTTGGCTT	0.468																																						dbGAP											0													187.0	161.0	170.0					9																	20789451		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.1299C>T	9.37:g.20789451C>T			D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Silent	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.D433	ENST00000380249.1	37	c.1299	CCDS34993.1	9																																																																																			FOCAD	-	NULL	ENSG00000188352		0.468	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1	412	0.00	0	C	NM_017794		20789451	20789451	+1	no_errors	ENST00000338382	ensembl	human	known	69_37n	silent	60	11.76	8	SNP	0.998	T
FRAS1	80144	genome.wustl.edu	37	4	79291043	79291043	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:79291043G>T	ENST00000325942.6	+	23	3214	c.2774G>T	c.(2773-2775)tGc>tTc	p.C925F	FRAS1_ENST00000264895.6_Missense_Mutation_p.C925F	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	925					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGTACCTCCTGCCGAGATCCA	0.473																																						dbGAP											0													93.0	96.0	95.0					4																	79291043		2013	4173	6186	-	-	-	SO:0001583	missense	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.2774G>T	4.37:g.79291043G>T	ENSP00000326330:p.Cys925Phe		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EGF-like,smart_Calx_beta,pfscan_VWF_C	p.C925F	ENST00000325942.6	37	c.2774	CCDS54772.1	4	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514552	0.85389	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	D;T	0.96619	-4.07;-0.48	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.99052	0.9675	H	0.98901	4.365	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.995;0.999	D	0.99153	1.0859	10	0.87932	D	0	.	18.5309	0.90992	0.0:0.0:1.0:0.0	.	925;925	E9PHH6;A2RRR8	.;.	F	925	ENSP00000326330:C925F;ENSP00000264895:C925F	ENSP00000264895:C925F	C	+	2	0	FRAS1	79510067	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.124000	0.94394	2.362000	0.80069	0.491000	0.48974	TGC	FRAS1	-	superfamily_Growth_fac_rcpt,smart_Furin_repeat	ENSG00000138759		0.473	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	302	0.00	0	G			79291043	79291043	+1	no_errors	ENST00000264895	ensembl	human	known	69_37n	missense	42	10.64	5	SNP	1.000	T
FRY	10129	genome.wustl.edu	37	13	32835905	32835905	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr13:32835905C>T	ENST00000380250.3	+	52	8065	c.7569C>T	c.(7567-7569)tcC>tcT	p.S2523S	FRY_ENST00000542859.1_5'Flank	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2523						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATGAATCATCCGAGGAGGAGG	0.502																																						dbGAP											0													57.0	60.0	59.0					13																	32835905		1986	4178	6164	-	-	-	SO:0001819	synonymous_variant	0			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.7569C>T	13.37:g.32835905C>T			Q9Y3N6	Silent	SNP	superfamily_ARM-type_fold	p.S2523	ENST00000380250.3	37	c.7569	CCDS41875.1	13																																																																																			FRY	-	NULL	ENSG00000073910		0.502	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	70	0.00	0	C	NM_023037		32835905	32835905	+1	no_errors	ENST00000380250	ensembl	human	known	69_37n	silent	24	14.29	4	SNP	0.001	T
FRYL	285527	genome.wustl.edu	37	4	48566994	48566994	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:48566994A>G	ENST00000503238.1	-	27	3396	c.3397T>C	c.(3397-3399)Ttg>Ctg	p.L1133L	FRYL_ENST00000358350.4_Silent_p.L1133L|FRYL_ENST00000537810.1_Silent_p.L1133L|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Silent_p.L1133L			O94915	FRYL_HUMAN	FRY-like	1133					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CATTTGTACAAATAGCCATCT	0.318																																						dbGAP											0													108.0	104.0	105.0					4																	48566994		1886	4111	5997	-	-	-	SO:0001819	synonymous_variant	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.3397T>C	4.37:g.48566994A>G			O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.F3S	ENST00000503238.1	37	c.8	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	A	9.190	1.025831	0.19512	.	.	ENSG00000075539	ENST00000514617	.	.	.	5.01	2.58	0.30949	.	.	.	.	.	T	0.58293	0.2112	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53472	-0.8434	4	.	.	.	.	8.8696	0.35307	0.8459:0.0:0.1541:0.0	.	.	.	.	S	3	.	.	F	-	2	0	FRYL	48261751	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.985000	0.63845	0.854000	0.35336	0.383000	0.25322	TTT	FRYL	-	superfamily_ARM-type_fold	ENSG00000075539		0.318	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	167	0.00	0	A			48566994	48566994	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000514617	ensembl	human	novel	69_37n	missense	52	23.53	16	SNP	1.000	G
FSTL1	11167	genome.wustl.edu	37	3	120130714	120130714	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:120130714A>G	ENST00000295633.3	-	4	641	c.285T>C	c.(283-285)gaT>gaC	p.D95D	FSTL1_ENST00000424703.2_Silent_p.D60D	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	95	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TGCAGTGTCCATCGTAATCAA	0.542																																						dbGAP											0													225.0	181.0	196.0					3																	120130714		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"""EF-hand domain containing"""	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.285T>C	3.37:g.120130714A>G			A8K523|B4DTT5|D3DN90|Q549Z0	Silent	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pfscan_EF_HAND_2	p.D95	ENST00000295633.3	37	c.285	CCDS2998.1	3																																																																																			FSTL1	-	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal	ENSG00000163430		0.542	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL1	HGNC	protein_coding	OTTHUMT00000355399.1	326	0.00	0	A	NM_007085		120130714	120130714	-1	no_errors	ENST00000295633	ensembl	human	known	69_37n	silent	357	11.85	48	SNP	0.953	G
FURIN	5045	genome.wustl.edu	37	15	91419771	91419771	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:91419771C>A	ENST00000268171.3	+	4	635	c.356C>A	c.(355-357)cCt>cAt	p.P119H		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	119					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P119H(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCCAAGTTTCCTCAGCAGTGG	0.597																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											140.0	128.0	132.0					15																	91419771		2198	4298	6496	-	-	-	SO:0001583	missense	0			X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.356C>A	15.37:g.91419771C>A	ENSP00000268171:p.Pro119His		Q14336|Q6LBS3|Q9UCZ5	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel	p.P119H	ENST00000268171.3	37	c.356	CCDS10364.1	15	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170510	0.38315	.	.	ENSG00000140564	ENST00000268171	T	0.81415	-1.49	4.79	3.88	0.44766	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.453088	0.24664	N	0.036609	D	0.83487	0.5265	M	0.80982	2.52	0.44073	D	0.996828	P	0.36616	0.561	P	0.44732	0.459	D	0.84226	0.0464	10	0.72032	D	0.01	-19.8762	9.5223	0.39143	0.0:0.84:0.0:0.16	.	119	P09958	FURIN_HUMAN	H	119	ENSP00000268171:P119H	ENSP00000268171:P119H	P	+	2	0	FURIN	89220775	0.922000	0.31269	0.976000	0.42696	0.611000	0.37282	2.570000	0.45981	1.256000	0.44068	-0.145000	0.13849	CCT	FURIN	-	superfamily_Peptidase_S8/S53	ENSG00000140564		0.597	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FURIN	HGNC	protein_coding	OTTHUMT00000313492.1	352	0.00	0	C	NM_002569		91419771	91419771	+1	no_errors	ENST00000268171	ensembl	human	known	69_37n	missense	336	27.99	131	SNP	0.989	A
GAA	2548	genome.wustl.edu	37	17	78083794	78083794	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:78083794C>T	ENST00000302262.3	+	9	1596	c.1377C>T	c.(1375-1377)gaC>gaT	p.D459D	GAA_ENST00000390015.3_Silent_p.D459D	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	459			Missing (in GSD2; infantile form; severe). {ECO:0000269|PubMed:14695532}.		cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GGCCCTACGACGAGGGTCTGC	0.657																																						dbGAP											0			GRCh37	CD040187	GAA	D							40.0	46.0	44.0					17																	78083794		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1377C>T	17.37:g.78083794C>T			Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.D459	ENST00000302262.3	37	c.1377	CCDS32760.1	17																																																																																			GAA	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000171298		0.657	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAA	HGNC	protein_coding	OTTHUMT00000437441.1	42	0.00	0	C			78083794	78083794	+1	no_errors	ENST00000302262	ensembl	human	known	69_37n	silent	54	22.86	16	SNP	0.293	T
GABRG1	2565	genome.wustl.edu	37	4	46053450	46053450	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:46053450A>C	ENST00000295452.4	-	8	1289	c.1122T>G	c.(1120-1122)aaT>aaG	p.N374K		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	374					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCGAGGCTTTATTTTTTAGCT	0.299																																						dbGAP											0													48.0	45.0	46.0					4																	46053450		2201	4297	6498	-	-	-	SO:0001583	missense	0			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1122T>G	4.37:g.46053450A>C	ENSP00000295452:p.Asn374Lys		Q5H9T8	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.N374K	ENST00000295452.4	37	c.1122	CCDS3470.1	4	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.127512	0.00342	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	D	0.84944	-1.92	5.63	-3.85	0.04243	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.336090	0.04526	N	0.385567	T	0.71039	0.3293	N	0.21448	0.665	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.61898	-0.6968	10	0.02654	T	1	.	9.5668	0.39402	0.5662:0.0962:0.3376:0.0	.	374	Q8N1C3	GBRG1_HUMAN	K	374	ENSP00000295452:N374K	ENSP00000295452:N374K	N	-	3	2	GABRG1	45748207	0.006000	0.16342	0.007000	0.13788	0.090000	0.18270	-0.022000	0.12480	-0.717000	0.04955	-0.297000	0.09499	AAT	GABRG1	-	superfamily_Neurotrans-gated_channel_TM	ENSG00000163285		0.299	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG1	HGNC	protein_coding	OTTHUMT00000250470.1	43	0.00	0	A	NM_173536		46053450	46053450	-1	no_errors	ENST00000295452	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	0.000	C
GALNTL5	168391	genome.wustl.edu	37	7	151704925	151704925	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:151704925T>G	ENST00000392800.2	+	7	1176	c.922T>G	c.(922-924)Tct>Gct	p.S308A	GALNTL5_ENST00000431418.2_Missense_Mutation_p.S308A|GALNTL5_ENST00000483959.1_3'UTR	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	308	Catalytic subdomain B.				spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		ACCTGCAATGTCTGGAGGAAT	0.318																																						dbGAP											0													121.0	122.0	122.0					7																	151704925		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.922T>G	7.37:g.151704925T>G	ENSP00000376548:p.Ser308Ala		Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	pfam_Glyco_trans_2	p.S308A	ENST00000392800.2	37	c.922	CCDS5929.1	7	.	.	.	.	.	.	.	.	.	.	T	2.850	-0.238528	0.05944	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.61158	0.13;0.13	4.72	-0.848	0.10727	Glycosyl transferase, family 2 (1);	1.743330	0.03627	N	0.237316	T	0.11793	0.0287	N	0.00020	-2.775	0.23126	N	0.998252	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.48714	-0.9011	10	0.02654	T	1	.	4.3301	0.11059	0.0718:0.2447:0.4248:0.2586	.	59;308	A8MZD3;Q7Z4T8	.;GLTL5_HUMAN	A	308	ENSP00000392582:S308A;ENSP00000376548:S308A	ENSP00000376548:S308A	S	+	1	0	GALNTL5	151335858	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	1.008000	0.29872	-0.045000	0.13468	-0.183000	0.12914	TCT	GALNTL5	-	pfam_Glyco_trans_2	ENSG00000106648		0.318	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL5	HGNC	protein_coding	OTTHUMT00000348395.1	160	0.62	1	T	NM_145292		151704925	151704925	+1	no_errors	ENST00000392800	ensembl	human	known	69_37n	missense	55	33.73	28	SNP	1.000	G
GANAB	23193	genome.wustl.edu	37	11	62398080	62398081	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:62398080_62398081delCT	ENST00000356638.3	-	11	1394_1395	c.1378_1379delAG	c.(1378-1380)aggfs	p.R461fs	GANAB_ENST00000346178.4_Frame_Shift_Del_p.R483fs|GANAB_ENST00000540933.1_Frame_Shift_Del_p.R364fs|GANAB_ENST00000534779.1_Frame_Shift_Del_p.R369fs|GANAB_ENST00000534422.1_5'Flank	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	461				R -> W (in Ref. 5; AAH65266). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TACCTTCCGCCTCTTAGAAGCC	0.559																																					Melanoma(23;1005 1074 15747 18937)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1378_1379delAG	11.37:g.62398082_62398083delCT	ENSP00000349053:p.Arg461fs		A6NC20|Q8WTS9|Q9P0X0	Frame_Shift_Del	DEL	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd	p.R482fs	ENST00000356638.3	37	c.1445_1444	CCDS8026.1	11																																																																																			GANAB	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000089597		0.559	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GANAB	HGNC	protein_coding	OTTHUMT00000395689.1	137	0.00	0	CT	NM_198334		62398080	62398081	-1	no_errors	ENST00000346178	ensembl	human	known	69_37n	frame_shift_del	100	24.06	32	DEL	1.000:1.000	-
GARS	2617	genome.wustl.edu	37	7	30671999	30671999	+	Silent	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:30671999C>A	ENST00000389266.3	+	16	2281	c.2040C>A	c.(2038-2040)acC>acA	p.T680T		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	680					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TGAACAAGACCCCCCACACTG	0.498																																						dbGAP											0													113.0	112.0	112.0					7																	30671999		2052	4196	6248	-	-	-	SO:0001819	synonymous_variant	0			AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.2040C>A	7.37:g.30671999C>A			B3KQA2|B4DIA0|Q969Y1	Silent	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,prints_tRNA-synt_gly,tigrfam_tRNA-synt_gly	p.T680	ENST00000389266.3	37	c.2040	CCDS43564.1	7																																																																																			GARS	-	pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_tRNA-synt_gly	ENSG00000106105		0.498	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GARS	HGNC	protein_coding	OTTHUMT00000327735.1	255	0.00	0	C	NM_002047		30671999	30671999	+1	no_errors	ENST00000389266	ensembl	human	known	69_37n	silent	70	35.19	38	SNP	0.977	A
GBA2	57704	genome.wustl.edu	37	9	35738880	35738880	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:35738880C>T	ENST00000378103.3	-	12	2339	c.1816G>A	c.(1816-1818)Gtc>Atc	p.V606I	GBA2_ENST00000545786.1_Missense_Mutation_p.V612I|GBA2_ENST00000378094.4_Missense_Mutation_p.V606I|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378088.1_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	606					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TATGCATTGACGCGGAGCCAT	0.493																																						dbGAP											0													96.0	85.0	88.0					9																	35738880		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.1816G>A	9.37:g.35738880C>T	ENSP00000367343:p.Val606Ile		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	pfam_Glucosylceramidase,pfam_GBA2_N,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type	p.V612I	ENST00000378103.3	37	c.1834	CCDS6589.1	9	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845946	0.32606	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.94	3.7	0.42460	Six-hairpin glycosidase-like (1);Glucosylceramidase (1);	0.285219	0.39274	N	0.001418	T	0.42471	0.1204	L	0.38531	1.155	0.49582	D	0.999807	B;B;B	0.25667	0.025;0.131;0.018	B;B;B	0.19666	0.011;0.026;0.012	T	0.22941	-1.0202	9	0.13853	T	0.58	-18.4471	11.0912	0.48117	0.0:0.8215:0.0:0.1785	.	612;606;606	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	I	606;606;612	.	ENSP00000367334:V606I	V	-	1	0	GBA2	35728880	0.818000	0.29161	1.000000	0.80357	0.991000	0.79684	1.572000	0.36461	1.444000	0.47605	0.561000	0.74099	GTC	GBA2	-	pfam_Glucosylceramidase,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type	ENSG00000070610		0.493	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GBA2	HGNC	protein_coding	OTTHUMT00000055456.1	383	0.00	0	C	NM_020944		35738880	35738880	-1	no_errors	ENST00000545786	ensembl	human	known	69_37n	missense	315	10.26	36	SNP	0.849	T
GDI2	2665	genome.wustl.edu	37	10	5808032	5808032	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:5808032T>C	ENST00000380191.4	-	11	1565	c.1275A>G	c.(1273-1275)acA>acG	p.T425T	GDI2_ENST00000380181.3_Silent_p.T380T|GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380132.4_Silent_p.T429T	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	425					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						ACTCTGATCCTGTCATCCTCT	0.358																																						dbGAP											0													213.0	188.0	197.0					10																	5808032		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.1275A>G	10.37:g.5808032T>C			O43928|Q5SX88|Q9UQM6	Silent	SNP	pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor	p.T429	ENST00000380191.4	37	c.1287	CCDS7071.1	10																																																																																			GDI2	-	pfam_GDP_dissociation_inhibitor	ENSG00000057608		0.358	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDI2	HGNC	protein_coding	OTTHUMT00000046580.1	473	0.00	0	T	NM_001494		5808032	5808032	-1	no_errors	ENST00000380132	ensembl	human	known	69_37n	silent	220	11.95	30	SNP	0.997	C
GID8	54994	genome.wustl.edu	37	20	61574909	61574909	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:61574909G>A	ENST00000266069.3	+	4	525	c.378G>A	c.(376-378)caG>caA	p.Q126Q		NM_017896.2	NP_060366.1	Q9NWU2	GID8_HUMAN	GID complex subunit 8	126						cell junction (GO:0030054)|nucleus (GO:0005634)											AGTTTGCACAGACTCAGCTGG	0.627																																						dbGAP											0													42.0	37.0	39.0					20																	61574909		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000609	CCDS13510.1	20q13.33	2013-07-31	2013-07-31	2012-07-20	ENSG00000101193	ENSG00000101193			15857	protein-coding gene	gene with protein product		611625	"""chromosome 20 open reading frame 11"", ""GID complex subunit 8 homolog (S. cerevisiae)"""	C20orf11		12559565	Standard	NM_017896		Approved	FLJ20602, bA305P22.1, TWA1	uc002ydy.3	Q9NWU2	OTTHUMG00000032949	ENST00000266069.3:c.378G>A	20.37:g.61574909G>A			E1P5I3|Q8N5M5	Silent	SNP	pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.Q126	ENST00000266069.3	37	c.378	CCDS13510.1	20																																																																																			GID8	-	pfam_CTLH/CRA,smart_CRA_dom	ENSG00000101193		0.627	GID8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GID8	HGNC	protein_coding	OTTHUMT00000080097.2	44	0.00	0	G	NM_017896		61574909	61574909	+1	no_errors	ENST00000266069	ensembl	human	known	69_37n	silent	41	18.00	9	SNP	1.000	A
GIMAP1	170575	genome.wustl.edu	37	7	150417324	150417324	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:150417324G>A	ENST00000307194.5	+	3	372	c.232G>A	c.(232-234)Gtg>Atg	p.V78M		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	78	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAAGTGCCACGTGGAAGTCGT	0.632																																						dbGAP											0													48.0	44.0	46.0					7																	150417324		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.232G>A	7.37:g.150417324G>A	ENSP00000302833:p.Val78Met		B2RCI3|Q8NAZ0	Missense_Mutation	SNP	pfam_AIG1	p.V78M	ENST00000307194.5	37	c.232	CCDS5906.1	7	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657059	0.47467	.	.	ENSG00000213203	ENST00000307194	T	0.08984	3.03	4.82	0.66	0.17868	AIG1 (1);	0.452605	0.18832	U	0.129939	T	0.14270	0.0345	L	0.51853	1.615	0.09310	N	1	D	0.76494	0.999	D	0.67382	0.951	T	0.13308	-1.0514	10	0.56958	D	0.05	.	0.9579	0.01389	0.211:0.184:0.4155:0.1894	.	78	Q8WWP7	GIMA1_HUMAN	M	78	ENSP00000302833:V78M	ENSP00000302833:V78M	V	+	1	0	GIMAP1	150048257	0.000000	0.05858	0.005000	0.12908	0.025000	0.11179	-0.914000	0.04038	0.256000	0.21614	0.655000	0.94253	GTG	GIMAP1	-	pfam_AIG1	ENSG00000213203		0.632	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP1	HGNC	protein_coding	OTTHUMT00000348951.2	49	0.00	0	G	NM_130759		150417324	150417324	+1	no_errors	ENST00000307194	ensembl	human	known	69_37n	missense	75	14.77	13	SNP	0.017	A
GIT1	28964	genome.wustl.edu	37	17	27901887	27901887	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:27901887C>T	ENST00000225394.3	-	20	2367	c.2119G>A	c.(2119-2121)Gcc>Acc	p.A707T	GIT1_ENST00000579937.1_3'UTR|GIT1_ENST00000394869.3_Missense_Mutation_p.A716T|GIT1_ENST00000581348.1_Missense_Mutation_p.A693T|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	707	Interaction with PXN and TGFB1I1. {ECO:0000250}.				regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TAGGCGCTGGCGTTGAGCAGC	0.657																																					Colon(81;41 1719 20078 35068)	dbGAP											0													11.0	12.0	11.0					17																	27901887		2196	4282	6478	-	-	-	SO:0001583	missense	0			AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	protein-coding gene	gene with protein product		608434	"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.2119G>A	17.37:g.27901887C>T	ENSP00000225394:p.Ala707Thr		B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Missense_Mutation	SNP	pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP	p.A716T	ENST00000225394.3	37	c.2146	CCDS11250.1	17	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780979	0.49891	.	.	ENSG00000108262	ENST00000225394;ENST00000394869	T;T	0.70516	-0.42;-0.49	4.65	4.65	0.58169	G protein-coupled receptor kinase-interacting protein 1 C term (1);	0.062587	0.64402	D	0.000010	T	0.62502	0.2433	L	0.29908	0.895	0.80722	D	1	B;B;B	0.27351	0.176;0.087;0.087	B;B;B	0.31495	0.131;0.091;0.131	T	0.59573	-0.7429	10	0.32370	T	0.25	.	17.7096	0.88318	0.0:1.0:0.0:0.0	.	720;716;707	Q59FC3;B4DGU9;Q9Y2X7	.;.;GIT1_HUMAN	T	707;716	ENSP00000225394:A707T;ENSP00000378338:A716T	ENSP00000225394:A707T	A	-	1	0	GIT1	24926013	0.023000	0.18921	0.993000	0.49108	0.981000	0.71138	0.367000	0.20382	2.574000	0.86865	0.655000	0.94253	GCC	GIT1	-	pfam_GIT1_C	ENSG00000108262		0.657	GIT1-001	KNOWN	basic|CCDS	protein_coding	GIT1	HGNC	protein_coding	OTTHUMT00000256073.1	31	0.00	0	C	NM_014030		27901887	27901887	-1	no_errors	ENST00000394869	ensembl	human	known	69_37n	missense	85	12.37	12	SNP	0.996	T
GMFG	9535	genome.wustl.edu	37	19	39826172	39826172	+	Splice_Site	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:39826172C>T	ENST00000597595.1	-	2	212		c.e2-1		GMFG_ENST00000594700.1_Splice_Site|GMFG_ENST00000602185.1_Intron|GMFG_ENST00000253054.8_5'UTR|GMFG_ENST00000595636.1_Splice_Site|GMFG_ENST00000601387.1_Intron|GMFG_ENST00000598034.1_Splice_Site|GMFG_ENST00000600322.1_Splice_Site	NM_004877.2	NP_004868.1	O60234	GMFG_HUMAN	glia maturation factor, gamma						negative regulation of protein kinase activity (GO:0006469)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGGAGTCAGACTGCCGGAGGG	0.552																																						dbGAP											0													90.0	75.0	80.0					19																	39826172		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB001993	CCDS12532.1, CCDS74364.1	19q13.2	2014-08-12			ENSG00000130755	ENSG00000130755			4374	protein-coding gene	gene with protein product		604104				9545571, 9653160, 17127212	Standard	XM_005259440		Approved		uc002okz.4	O60234	OTTHUMG00000182811	ENST00000597595.1:c.4-1G>A	19.37:g.39826172C>T			Q6IB37	Splice_Site	SNP	-	e2-1	ENST00000597595.1	37	c.4-1	CCDS12532.1	19	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113990	0.77210	.	.	ENSG00000130755	ENST00000253054	.	.	.	4.18	4.18	0.49190	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0237	0.64573	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GMFG	44518012	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	6.746000	0.74866	2.154000	0.67381	0.561000	0.74099	.	GMFG	-	-	ENSG00000130755		0.552	GMFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMFG	HGNC	protein_coding	OTTHUMT00000463839.1	62	0.00	0	C		Intron	39826172	39826172	-1	no_errors	ENST00000253054	ensembl	human	known	69_37n	splice_site	99	11.61	13	SNP	1.000	T
GNB1	2782	genome.wustl.edu	37	1	1747243	1747243	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:1747243C>T	ENST00000378609.4	-	5	486	c.155G>A	c.(154-156)cGg>cAg	p.R52Q		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	52					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CAGGTGCCCCCGCAGTGTCCT	0.507																																						dbGAP											0													152.0	116.0	128.0					1																	1747243		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.155G>A	1.37:g.1747243C>T	ENSP00000367872:p.Arg52Gln		B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R52Q	ENST00000378609.4	37	c.155	CCDS34.1	1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.615015	0.46631	.	.	ENSG00000078369	ENST00000378609;ENST00000378606;ENST00000434686;ENST00000439272;ENST00000437146	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);G-protein, beta subunit (1);	0.000000	0.85682	D	0.000000	T	0.62282	0.2415	N	0.17631	0.505	0.80722	D	1	D	0.67145	0.996	D	0.63033	0.91	T	0.60801	-0.7191	10	0.37606	T	0.19	-3.9139	18.8427	0.92190	0.0:1.0:0.0:0.0	.	52	P62873	GBB1_HUMAN	Q	52;52;52;39;52	ENSP00000367872:R52Q;ENSP00000392765:R52Q;ENSP00000399741:R39Q;ENSP00000416651:R52Q	ENSP00000367869:R52Q	R	-	2	0	GNB1	1737103	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	7.145000	0.77365	2.801000	0.96364	0.655000	0.94253	CGG	GNB1	-	pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000078369		0.507	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB1	HGNC	protein_coding	OTTHUMT00000002762.3	390	0.00	0	C	NM_002074		1747243	1747243	-1	no_errors	ENST00000378606	ensembl	human	known	69_37n	missense	255	11.76	34	SNP	1.000	T
GNB5	10681	genome.wustl.edu	37	15	52446168	52446168	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:52446168T>C	ENST00000261837.7	-	4	409	c.344A>G	c.(343-345)aAa>aGa	p.K115R	GNB5_ENST00000358784.7_Missense_Mutation_p.K73R|GNB5_ENST00000396335.4_Missense_Mutation_p.K73R|GNB5_ENST00000560116.1_Missense_Mutation_p.K73R	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	115					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		CCTCTTATCTTTGCACCAGTC	0.552																																						dbGAP											0													173.0	148.0	156.0					15																	52446168		2195	4293	6488	-	-	-	SO:0001583	missense	0			AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"""WD repeat domain containing"""	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.344A>G	15.37:g.52446168T>C	ENSP00000261837:p.Lys115Arg		B2RBR5|Q9HAU9|Q9UFT3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep	p.K115R	ENST00000261837.7	37	c.344	CCDS10149.1	15	.	.	.	.	.	.	.	.	.	.	T	13.11	2.138469	0.37728	.	.	ENSG00000069966	ENST00000261837;ENST00000396335;ENST00000358784	T;T;T	0.60171	0.21;0.21;0.21	5.44	1.91	0.25777	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);G-protein, beta subunit (1);	0.156529	0.56097	N	0.000024	T	0.38931	0.1059	N	0.21583	0.68	0.44719	D	0.997716	B;B;B	0.21606	0.058;0.001;0.0	B;B;B	0.23275	0.045;0.003;0.001	T	0.07849	-1.0751	10	0.26408	T	0.33	-3.9026	9.1661	0.37052	0.0:0.1981:0.0:0.8019	.	73;115;73	Q96F32;O14775;O14775-3	.;GBB5_HUMAN;.	R	115;73;73	ENSP00000261837:K115R;ENSP00000379626:K73R;ENSP00000351635:K73R	ENSP00000261837:K115R	K	-	2	0	GNB5	50233460	1.000000	0.71417	0.528000	0.27938	0.979000	0.70002	3.363000	0.52321	0.075000	0.16796	0.456000	0.33151	AAA	GNB5	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B	ENSG00000069966		0.552	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNB5	HGNC	protein_coding	OTTHUMT00000254842.1	324	0.00	0	T			52446168	52446168	-1	no_errors	ENST00000261837	ensembl	human	known	69_37n	missense	125	15.54	23	SNP	0.879	C
GNPTAB	79158	genome.wustl.edu	37	12	102151044	102151044	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:102151044C>T	ENST00000299314.7	-	18	3642	c.3380G>A	c.(3379-3381)cGt>cAt	p.R1127H		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1127					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AACGTTGGTACGAATCATTTT	0.274																																						dbGAP											0													75.0	73.0	74.0					12																	102151044		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.3380G>A	12.37:g.102151044C>T	ENSP00000299314:p.Arg1127His		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom	p.R1127H	ENST00000299314.7	37	c.3380	CCDS9088.1	12	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865614	0.91511	.	.	ENSG00000111670	ENST00000299314	D	0.82619	-1.63	6.06	6.06	0.98353	.	0.103596	0.64402	D	0.000002	T	0.79118	0.4392	L	0.50333	1.59	0.80722	D	1	P	0.45986	0.87	B	0.33620	0.167	T	0.81406	-0.0947	10	0.56958	D	0.05	-16.6574	20.6282	0.99521	0.0:1.0:0.0:0.0	.	1127	Q3T906	GNPTA_HUMAN	H	1127	ENSP00000299314:R1127H	ENSP00000299314:R1127H	R	-	2	0	GNPTAB	100675175	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.459000	0.80802	2.871000	0.98454	0.655000	0.94253	CGT	GNPTAB	-	NULL	ENSG00000111670		0.274	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	HGNC	protein_coding	OTTHUMT00000409182.1	31	0.00	0	C			102151044	102151044	-1	no_errors	ENST00000299314	ensembl	human	known	69_37n	missense	12	36.84	7	SNP	1.000	T
GOLGA3	2802	genome.wustl.edu	37	12	133349838	133349838	+	Silent	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:133349838G>T	ENST00000450791.2	-	23	4533	c.4350C>A	c.(4348-4350)gcC>gcA	p.A1450A	GOLGA3_ENST00000204726.3_Silent_p.A1450A			Q08378	GOGA3_HUMAN	golgin A3	1450					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCACCGTCAGGGCGTGCTCCT	0.687																																						dbGAP											0													28.0	24.0	26.0					12																	133349838		2197	4293	6490	-	-	-	SO:0001819	synonymous_variant	0			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.4350C>A	12.37:g.133349838G>T			A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	superfamily_Prefoldin	p.A1450	ENST00000450791.2	37	c.4350	CCDS9281.1	12																																																																																			GOLGA3	-	NULL	ENSG00000090615		0.687	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	48	0.00	0	G	NM_005895		133349838	133349838	-1	no_errors	ENST00000204726	ensembl	human	known	69_37n	silent	82	24.77	27	SNP	0.888	T
GON4L	54856	genome.wustl.edu	37	1	155753797	155753797	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:155753797A>G	ENST00000368331.1	-	14	1920	c.1872T>C	c.(1870-1872)ttT>ttC	p.F624F	GON4L_ENST00000361040.5_Silent_p.F624F|GON4L_ENST00000271883.5_Silent_p.F624F|GON4L_ENST00000437809.1_Silent_p.F624F|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	624					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAGGGGTGTTAAAGTTAGGAC	0.438																																						dbGAP											0													160.0	126.0	137.0					1																	155753797		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1872T>C	1.37:g.155753797A>G			B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.F624	ENST00000368331.1	37	c.1872		1																																																																																			GON4L	-	NULL	ENSG00000116580		0.438	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		425	0.47	2	A	NM_032292		155753797	155753797	-1	no_errors	ENST00000368331	ensembl	human	known	69_37n	silent	204	12.82	30	SNP	0.910	G
GON4L	54856	genome.wustl.edu	37	1	155792149	155792149	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:155792149C>T	ENST00000368331.1	-	4	864	c.816G>A	c.(814-816)atG>atA	p.M272I	GON4L_ENST00000361040.5_Missense_Mutation_p.M272I|GON4L_ENST00000271883.5_Missense_Mutation_p.M272I|GON4L_ENST00000437809.1_Missense_Mutation_p.M272I|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	272					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TACGGTCAAGCATGTCATCCA	0.453																																						dbGAP											0													383.0	290.0	322.0					1																	155792149		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.816G>A	1.37:g.155792149C>T	ENSP00000357315:p.Met272Ile		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.M272I	ENST00000368331.1	37	c.816		1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797808	0.31777	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.11821	2.94;2.94;2.94;2.74	5.4	5.4	0.78164	.	0.435274	0.26731	N	0.022792	T	0.04907	0.0132	L	0.44542	1.39	0.30166	N	0.801724	B;B;B;B	0.15141	0.012;0.002;0.001;0.002	B;B;B;B	0.15484	0.013;0.004;0.001;0.002	T	0.16247	-1.0409	10	0.38643	T	0.18	.	8.0494	0.30568	0.0:0.7085:0.208:0.0835	.	272;272;272;272	A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	I	272	ENSP00000396117:M272I;ENSP00000357315:M272I;ENSP00000271883:M272I;ENSP00000354322:M272I	ENSP00000271883:M272I	M	-	3	0	GON4L	154058773	0.583000	0.26757	1.000000	0.80357	0.472000	0.32918	0.605000	0.24179	2.813000	0.96785	0.561000	0.74099	ATG	GON4L	-	NULL	ENSG00000116580		0.453	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		834	0.00	0	C	NM_032292		155792149	155792149	-1	no_errors	ENST00000368331	ensembl	human	known	69_37n	missense	509	10.00	57	SNP	0.999	T
GPC2	221914	genome.wustl.edu	37	7	99773404	99773404	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:99773404G>A	ENST00000292377.2	-	3	606	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	GPC2_ENST00000471050.1_5'Flank|STAG3_ENST00000317296.5_5'Flank|STAG3_ENST00000394018.2_5'Flank|STAG3_ENST00000426455.1_5'Flank	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	147					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTCGCAGCCGAGAGAACAGG	0.597																																						dbGAP											0													64.0	62.0	63.0					7																	99773404		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"""Proteoglycans / Cell Surface : Glypicans"""	4450	protein-coding gene	gene with protein product	"""glypican proteoglycan 2, cerebroglycan proteoglycan"""		"""glypican 2 (cerebroglycan)"""			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.439C>T	7.37:g.99773404G>A	ENSP00000292377:p.Arg147Trp		A4D2A7	Missense_Mutation	SNP	pfam_Glypican	p.R147W	ENST00000292377.2	37	c.439	CCDS5689.1	7	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331313	0.60853	.	.	ENSG00000213420	ENST00000292377	T	0.49720	0.77	5.06	3.15	0.36227	.	0.305652	0.30177	N	0.010221	T	0.53449	0.1797	L	0.44542	1.39	0.25209	N	0.98999	D	0.76494	0.999	D	0.63192	0.912	T	0.43972	-0.9358	10	0.87932	D	0	-18.4469	7.8742	0.29584	0.0:0.1853:0.6374:0.1772	.	147	Q8N158	GPC2_HUMAN	W	147	ENSP00000292377:R147W	ENSP00000292377:R147W	R	-	1	2	GPC2	99611340	0.998000	0.40836	1.000000	0.80357	0.937000	0.57800	2.347000	0.44036	0.470000	0.27294	0.306000	0.20318	CGG	GPC2	-	pfam_Glypican	ENSG00000213420		0.597	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC2	HGNC	protein_coding	OTTHUMT00000337556.1	89	0.00	0	G	NM_152742		99773404	99773404	-1	no_errors	ENST00000292377	ensembl	human	known	69_37n	missense	181	14.62	31	SNP	1.000	A
GPR111	222611	genome.wustl.edu	37	6	47641159	47641159	+	Intron	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:47641159A>G	ENST00000296862.1	+	3	276				GPR111_ENST00000398742.2_Missense_Mutation_p.T2A|GPR111_ENST00000507065.1_Missense_Mutation_p.T2A			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GAAGACAATGACTCATATACT	0.403																																						dbGAP											0													168.0	157.0	160.0					6																	47641159		1882	4124	6006	-	-	-	SO:0001627	intron_variant	0			AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.277-4420A>G	6.37:g.47641159A>G			Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.T2A	ENST00000296862.1	37	c.4		6	.	.	.	.	.	.	.	.	.	.	A	21.4	4.137181	0.77775	.	.	ENSG00000164393	ENST00000507065;ENST00000398742	T;T	0.35605	2.07;1.3	4.55	0.391	0.16282	.	.	.	.	.	T	0.09247	0.0228	L	0.36672	1.1	0.09310	N	1	B	0.12013	0.005	B	0.16289	0.015	T	0.31392	-0.9945	9	0.59425	D	0.04	.	1.3021	0.02081	0.5311:0.187:0.1015:0.1804	.	2	Q8IZF7-2	.	A	2	ENSP00000422934:T2A;ENSP00000381727:T2A	ENSP00000381727:T2A	T	+	1	0	GPR111	47749118	0.002000	0.14202	0.142000	0.22268	0.779000	0.44077	-0.644000	0.05415	0.322000	0.23283	0.529000	0.55759	ACT	GPR111	-	NULL	ENSG00000164393		0.403	GPR111-001	KNOWN	basic	protein_coding	GPR111	HGNC	protein_coding	OTTHUMT00000106423.2	268	0.00	0	A	NM_153839		47641159	47641159	+1	no_errors	ENST00000398742	ensembl	human	known	69_37n	missense	54	15.62	10	SNP	0.240	G
GPR158	57512	genome.wustl.edu	37	10	25886809	25886809	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:25886809C>T	ENST00000376351.3	+	11	2613	c.2254C>T	c.(2254-2256)Cgt>Tgt	p.R752C	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	752					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGGCCTAGGTCGTTCCATCAT	0.507																																						dbGAP											0													113.0	127.0	122.0					10																	25886809		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2254C>T	10.37:g.25886809C>T	ENSP00000365529:p.Arg752Cys		Q6QR81|Q9ULT3	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.R752C	ENST00000376351.3	37	c.2254	CCDS31166.1	10	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398649	0.83120	.	.	ENSG00000151025	ENST00000376351	T	0.73152	-0.72	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000010	D	0.83280	0.5220	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84949	0.0870	10	0.87932	D	0	.	14.332	0.66564	0.1482:0.8518:0.0:0.0	.	752	Q5T848	GP158_HUMAN	C	752	ENSP00000365529:R752C	ENSP00000365529:R752C	R	+	1	0	GPR158	25926815	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.621000	0.67743	2.606000	0.88127	0.650000	0.86243	CGT	GPR158	-	NULL	ENSG00000151025		0.507	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	69	0.00	0	C	XM_166110		25886809	25886809	+1	no_errors	ENST00000376351	ensembl	human	known	69_37n	missense	12	42.86	9	SNP	1.000	T
GPR4	2828	genome.wustl.edu	37	19	46094966	46094966	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:46094966G>A	ENST00000323040.4	-	2	1103	c.159C>T	c.(157-159)ggC>ggT	p.G53G	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	53					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		TCAGGTAGACGCCCAGCTCGT	0.632																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	dbGAP											0													97.0	78.0	84.0					19																	46094966		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.159C>T	19.37:g.46094966G>A			A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_GPR4_rcpt,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Psych_rcpt	p.G53	ENST00000323040.4	37	c.159	CCDS12669.1	19																																																																																			GPR4	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Psych_rcpt	ENSG00000177464		0.632	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR4	HGNC	protein_coding	OTTHUMT00000459603.1	82	0.00	0	G	NM_005282		46094966	46094966	-1	no_errors	ENST00000323040	ensembl	human	known	69_37n	silent	108	34.15	56	SNP	1.000	A
GPR68	8111	genome.wustl.edu	37	14	91701374	91701374	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:91701374G>A	ENST00000531499.2	-	2	360	c.21C>T	c.(19-21)gaC>gaT	p.D7D	GPR68_ENST00000238699.3_Silent_p.D17D|GPR68_ENST00000529300.1_5'Flank|GPR68_ENST00000535815.1_Silent_p.D7D			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	7					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		TCGAGGAGTTGTCTGCAGTGA	0.597																																						dbGAP											0													100.0	87.0	91.0					14																	91701374		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"""GPCR / Class A : Orphans"""	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.21C>T	14.37:g.91701374G>A			Q13334|Q4VBB4|Q6IX34	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_OGR1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Psych_rcpt	p.D17	ENST00000531499.2	37	c.51	CCDS9894.2	14																																																																																			GPR68	-	prints_OGR1_rcpt	ENSG00000119714		0.597	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR68	HGNC	protein_coding	OTTHUMT00000395245.2	252	0.00	0	G			91701374	91701374	-1	no_errors	ENST00000238699	ensembl	human	known	69_37n	silent	265	13.55	42	SNP	0.991	A
GPR98	84059	genome.wustl.edu	37	5	90025457	90025459	+	Splice_Site	DEL	AGG	AGG	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:90025457_90025459delAGG	ENST00000405460.2	+	50	10522_10523	c.10426_10427delAGG	c.(10426-10428)agg>g	p.R3476del		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3476					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.?(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCATTATTGCAGGAGATCAGAAT	0.296																																						dbGAP											1	Unknown(1)	kidney(1)																																								-	-	-	SO:0001630	splice_region_variant	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10427-1AGG>-	5.37:g.90025457_90025459delAGG			O75171|Q8TF58|Q9H0X5|Q9UL61	Splice_Site	DEL	-	e50-1	ENST00000405460.2	37	c.10427-2_10427-1	CCDS47246.1	5																																																																																			GPR98	-	-	ENSG00000164199		0.296	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	161	0.00	0	AGG	NM_032119	In_Frame_Del	90025457	90025459	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	splice_site_del	49	14.04	8	DEL	0.997:1.000:0.997	-
GRIN2C	2905	genome.wustl.edu	37	17	72847756	72847756	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:72847756A>G	ENST00000293190.5	-	4	1219	c.1073T>C	c.(1072-1074)aTg>aCg	p.M358T	GRIN2C_ENST00000347612.4_Missense_Mutation_p.M358T|GRIN2C_ENST00000578159.1_5'Flank	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	358					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GATCACCACCATGGTGGGCTG	0.632																																						dbGAP											0													41.0	37.0	39.0					17																	72847756		2187	4287	6474	-	-	-	SO:0001583	missense	0				CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1073T>C	17.37:g.72847756A>G	ENSP00000293190:p.Met358Thr		B2RTT1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.M358T	ENST00000293190.5	37	c.1073	CCDS32724.1	17	.	.	.	.	.	.	.	.	.	.	A	12.64	1.999243	0.35226	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.40225	1.04	4.56	4.56	0.56223	.	0.086238	0.85682	D	0.000000	T	0.41581	0.1165	M	0.72479	2.2	0.47862	D	0.999533	B;B	0.25390	0.021;0.125	B;B	0.20955	0.013;0.032	T	0.46498	-0.9187	10	0.87932	D	0	.	10.2489	0.43358	0.8518:0.0:0.0:0.1482	.	392;358	Q8IW23;Q14957	.;NMDE3_HUMAN	T	358;392	ENSP00000293190:M358T	ENSP00000293190:M358T	M	-	2	0	GRIN2C	70359351	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.027000	0.93706	2.037000	0.60232	0.459000	0.35465	ATG	GRIN2C	-	NULL	ENSG00000161509		0.632	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2C	HGNC	protein_coding	OTTHUMT00000103824.1	105	0.00	0	A			72847756	72847756	-1	no_errors	ENST00000293190	ensembl	human	known	69_37n	missense	119	11.85	16	SNP	1.000	G
GRIN3B	116444	genome.wustl.edu	37	19	1005498	1005498	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:1005498C>T	ENST00000234389.3	+	3	2017	c.1998C>T	c.(1996-1998)gcC>gcT	p.A666A	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	666					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACCTGGCTGCCGTCATGGTCG	0.687																																						dbGAP											0													40.0	40.0	40.0					19																	1005498		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1998C>T	19.37:g.1005498C>T			Q5EAK7|Q7RTW9	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A666	ENST00000234389.3	37	c.1998	CCDS32861.1	19																																																																																			GRIN3B	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	ENSG00000116032		0.687	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3B	HGNC	protein_coding	OTTHUMT00000103923.2	83	0.00	0	C			1005498	1005498	+1	no_errors	ENST00000234389	ensembl	human	known	69_37n	silent	123	12.77	18	SNP	0.808	T
GRIN2D	2906	genome.wustl.edu	37	19	48917792	48917792	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:48917792T>C	ENST00000263269.3	+	5	1451	c.1363T>C	c.(1363-1365)Tgc>Cgc	p.C455R		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	455					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAGCGGCACCTGCATCCGAGA	0.642																																						dbGAP											0													47.0	38.0	41.0					19																	48917792		2189	4273	6462	-	-	-	SO:0001583	missense	0			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1363T>C	19.37:g.48917792T>C	ENSP00000263269:p.Cys455Arg			Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.C455R	ENST00000263269.3	37	c.1363	CCDS12719.1	19	.	.	.	.	.	.	.	.	.	.	T	20.8	4.050820	0.75960	.	.	ENSG00000105464	ENST00000263269	T	0.19669	2.13	4.14	4.14	0.48551	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.48822	0.1521	M	0.84948	2.725	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.57063	-0.7875	10	0.87932	D	0	.	12.5748	0.56357	0.0:0.0:0.0:1.0	.	455	O15399	NMDE4_HUMAN	R	455	ENSP00000263269:C455R	ENSP00000263269:C455R	C	+	1	0	GRIN2D	53609604	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.816000	0.86201	1.889000	0.54706	0.459000	0.35465	TGC	GRIN2D	-	smart_Iontro_glu_rcpt	ENSG00000105464		0.642	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2D	HGNC	protein_coding	OTTHUMT00000466121.1	102	0.00	0	T			48917792	48917792	+1	no_errors	ENST00000263269	ensembl	human	known	69_37n	missense	180	10.89	22	SNP	1.000	C
GRIPAP1	56850	genome.wustl.edu	37	X	48834656	48834656	+	Intron	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:48834656G>T	ENST00000376441.1	-	22	2096				GRIPAP1_ENST00000376423.4_3'UTR|GRIPAP1_ENST00000376425.3_Intron|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Intron	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1							blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GAAAAGGGGAGGGGTTCTCAG	0.502																																						dbGAP											0													98.0	89.0	92.0					X																	48834656		2202	4298	6500	-	-	-	SO:0001627	intron_variant	0			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.2061+60C>A	X.37:g.48834656G>T			A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	RNA	SNP	-	NULL	ENST00000376441.1	37	NULL	CCDS35248.1	X																																																																																			GRIPAP1	-	-	ENSG00000068400		0.502	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIPAP1	HGNC	protein_coding	OTTHUMT00000080970.2	221	0.00	0	G	NM_207672		48834656	48834656	-1	no_errors	ENST00000473581	ensembl	human	known	69_37n	rna	278	10.58	33	SNP	0.001	T
GRM3	2913	genome.wustl.edu	37	7	86394476	86394476	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:86394476delA	ENST00000361669.2	+	2	1114	c.15delA	c.(13-15)acafs	p.T5fs	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000439827.1_Frame_Shift_Del_p.T5fs|GRM3_ENST00000394720.2_Frame_Shift_Del_p.T3fs	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	5					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					AGATGTTGACAAGACTGCAAG	0.398																																					GBM(52;969 1098 3139 52280)	dbGAP											0													151.0	152.0	152.0					7																	86394476		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.15delA	7.37:g.86394476delA	ENSP00000355316:p.Thr5fs		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Frame_Shift_Del	DEL	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C	p.R6fs	ENST00000361669.2	37	c.15	CCDS5600.1	7																																																																																			GRM3	-	prints_GPCR_3_mtglu_rcpt_3	ENSG00000198822		0.398	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	HGNC	protein_coding	OTTHUMT00000253362.2	101	0.00	0	A			86394476	86394476	+1	no_errors	ENST00000361669	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	1.000	-
GTF2IRD1P1	729156	genome.wustl.edu	37	7	66296265	66296265	+	RNA	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:66296265C>T	ENST00000457166.1	-	0	601					NR_003934.1				GTF2I repeat domain containing 1 pseusogene 1																		CAGAGGTTGGCGAGGGGTCTG	0.547																																						dbGAP											0																																										-	-	-			0					7q11.21	2012-06-29			ENSG00000230583	ENSG00000230583			44136	pseudogene	pseudogene							Standard	NR_003934		Approved		uc003tvj.1		OTTHUMG00000156927		7.37:g.66296265C>T				RNA	SNP	-	NULL	ENST00000457166.1	37	NULL		7																																																																																			GTF2IRD1P1	-	-	ENSG00000230583		0.547	GTF2IRD1P1-002	KNOWN	basic	processed_transcript	GTF2IRD1P1	HGNC	pseudogene	OTTHUMT00000346561.1	85	0.00	0	C	NR_003934		66296265	66296265	-1	no_errors	ENST00000457166	ensembl	human	known	69_37n	rna	122	14.08	20	SNP	0.746	T
GTF3C2	2976	genome.wustl.edu	37	2	27559218	27559218	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:27559218T>A	ENST00000359541.2	-	8	1631	c.1202A>T	c.(1201-1203)gAc>gTc	p.D401V	AC109828.1_ENST00000416453.2_RNA|AC109828.1_ENST00000587586.1_RNA|AC109828.1_ENST00000589232.1_RNA|AC109828.1_ENST00000608473.1_RNA|AC109828.1_ENST00000592265.1_RNA|AC109828.1_ENST00000585645.1_RNA|AC109828.1_ENST00000590754.1_RNA|AC109828.1_ENST00000585326.1_RNA|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000589853.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.D401V			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	401					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGGCACCAGTCCAGAGCCCA	0.552																																						dbGAP											0													64.0	66.0	66.0					2																	27559218		2203	4300	6503	-	-	-	SO:0001583	missense	0			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.1202A>T	2.37:g.27559218T>A	ENSP00000352536:p.Asp401Val		D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D401V	ENST00000359541.2	37	c.1202	CCDS1749.1	2	.	.	.	.	.	.	.	.	.	.	T	18.89	3.719301	0.68844	.	.	ENSG00000115207	ENST00000359541;ENST00000264720	T;T	0.63096	-0.02;-0.02	5.7	5.7	0.88788	.	0.099352	0.64402	D	0.000003	T	0.57710	0.2072	L	0.39898	1.24	0.80722	D	1	P;P;P	0.46512	0.879;0.624;0.741	P;B;P	0.44394	0.448;0.261;0.448	T	0.59841	-0.7378	10	0.45353	T	0.12	-10.4073	13.9181	0.63914	0.0:0.0:0.0:1.0	.	401;401;401	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	V	401	ENSP00000352536:D401V;ENSP00000264720:D401V	ENSP00000264720:D401V	D	-	2	0	GTF3C2	27412722	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.027000	0.76463	2.186000	0.69663	0.455000	0.32223	GAC	GTF3C2	-	NULL	ENSG00000115207		0.552	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C2	HGNC	protein_coding	OTTHUMT00000215028.2	25	0.00	0	T			27559218	27559218	-1	no_errors	ENST00000264720	ensembl	human	known	69_37n	missense	38	15.22	7	SNP	1.000	A
GYS2	2998	genome.wustl.edu	37	12	21712043	21712043	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:21712043T>C	ENST00000261195.2	-	10	1544	c.1290A>G	c.(1288-1290)agA>agG	p.R430R		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	430					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AAAAGATGGCTCTTTTCATAA	0.308																																					Colon(149;9 1820 3690 10544 50424)	dbGAP											0													77.0	77.0	77.0					12																	21712043		2202	4297	6499	-	-	-	SO:0001819	synonymous_variant	0				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1290A>G	12.37:g.21712043T>C			A0AVD8	Silent	SNP	pfam_Glycogen_synth,pfam_Glyco_trans_1	p.R430	ENST00000261195.2	37	c.1290	CCDS8690.1	12																																																																																			GYS2	-	pfam_Glycogen_synth	ENSG00000111713		0.308	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYS2	HGNC	protein_coding	OTTHUMT00000402396.1	56	0.00	0	T	NM_021957		21712043	21712043	-1	no_errors	ENST00000261195	ensembl	human	known	69_37n	silent	45	11.54	6	SNP	1.000	C
HAPLN4	404037	genome.wustl.edu	37	19	19369471	19369471	+	Silent	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:19369471G>T	ENST00000291481.7	-	4	741	c.678C>A	c.(676-678)ccC>ccA	p.P226P	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	226	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	AGGGCTCCCGGGGCCGGTTCA	0.721																																						dbGAP											0													15.0	19.0	18.0					19																	19369471		2192	4267	6459	-	-	-	SO:0001819	synonymous_variant	0			AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.678C>A	19.37:g.19369471G>T			A5PKW5|Q96PW2	Silent	SNP	pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like,prints_Link	p.P226	ENST00000291481.7	37	c.678	CCDS12398.1	19																																																																																			HAPLN4	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link	ENSG00000187664		0.721	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAPLN4	HGNC	protein_coding	OTTHUMT00000460117.2	18	0.00	0	G	NM_023002		19369471	19369471	-1	no_errors	ENST00000291481	ensembl	human	known	69_37n	silent	42	17.65	9	SNP	0.993	T
HCAR3	8843	genome.wustl.edu	37	12	123200955	123200955	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:123200955G>T	ENST00000528880.2	-	1	484	c.330C>A	c.(328-330)aaC>aaA	p.N110K	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	110					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	TGCCCTGGCGGTTCATGGCAA	0.562																																						dbGAP											0													62.0	64.0	63.0					12																	123200955		2203	4300	6503	-	-	-	SO:0001583	missense	0			D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	16824	protein-coding gene	gene with protein product		606039	"""G protein-coupled receptor 109B"""	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.330C>A	12.37:g.123200955G>T	ENSP00000436714:p.Asn110Lys		A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.N110K	ENST00000528880.2	37	c.330	CCDS53842.1	12	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428445	0.43122	.	.	ENSG00000255398	ENST00000528880	T	0.38722	1.12	3.27	3.27	0.37495	.	.	.	.	.	T	0.73210	0.3558	H	0.96430	3.82	0.36515	D	0.869848	D	0.89917	1.0	D	0.87578	0.998	D	0.84677	0.0715	9	0.87932	D	0	.	12.4055	0.55436	0.0:0.0:1.0:0.0	.	110	E9PI97	.	K	110	ENSP00000436714:N110K	ENSP00000436714:N110K	N	-	3	2	HCAR3	121766908	1.000000	0.71417	0.998000	0.56505	0.116000	0.19942	4.674000	0.61612	1.521000	0.48983	0.184000	0.17185	AAC	HCAR3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	ENSG00000255398		0.562	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR3	HGNC	protein_coding	OTTHUMT00000387549.2	194	0.51	1	G	NM_006018		123200955	123200955	-1	no_errors	ENST00000528880	ensembl	human	known	69_37n	missense	128	12.93	19	SNP	0.998	T
MROH2B	133558	genome.wustl.edu	37	5	41018805	41018805	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:41018805T>C	ENST00000399564.4	-	26	3111	c.2661A>G	c.(2659-2661)caA>caG	p.Q887Q	MROH2B_ENST00000506092.2_Silent_p.Q442Q	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	887																	TAAACATTTCTTGACAGTCCT	0.403																																						dbGAP											0													94.0	96.0	95.0					5																	41018805		1959	4138	6097	-	-	-	SO:0001819	synonymous_variant	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2661A>G	5.37:g.41018805T>C			Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	superfamily_ARM-type_fold	p.Q887	ENST00000399564.4	37	c.2661	CCDS47202.1	5																																																																																			HEATR7B2	-	superfamily_ARM-type_fold	ENSG00000171495		0.403	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	107	0.00	0	T	NM_173489		41018805	41018805	-1	no_errors	ENST00000399564	ensembl	human	known	69_37n	silent	35	25.53	12	SNP	0.013	C
HEG1	57493	genome.wustl.edu	37	3	124732118	124732118	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:124732118T>C	ENST00000311127.4	-	6	2372	c.2305A>G	c.(2305-2307)Atg>Gtg	p.M769V	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	769					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CTATGGAGCATTGTCATGAAT	0.483																																						dbGAP											0													220.0	221.0	221.0					3																	124732118		2035	4193	6228	-	-	-	SO:0001583	missense	0			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.2305A>G	3.37:g.124732118T>C	ENSP00000311502:p.Met769Val		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	p.M769V	ENST00000311127.4	37	c.2305	CCDS46898.1	3	.	.	.	.	.	.	.	.	.	.	T	0.081	-1.183686	0.01620	.	.	ENSG00000173706	ENST00000311127	D	0.86627	-2.15	4.8	-4.41	0.03590	.	.	.	.	.	T	0.69387	0.3105	N	0.17474	0.49	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.59537	-0.7436	9	0.02654	T	1	.	8.8094	0.34959	0.1413:0.6526:0.0:0.2061	.	769;769	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	V	769	ENSP00000311502:M769V	ENSP00000311502:M769V	M	-	1	0	HEG1	126214808	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.183000	0.01255	-0.790000	0.04492	0.459000	0.35465	ATG	HEG1	-	NULL	ENSG00000173706		0.483	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2	322	0.00	0	T	XM_087386		124732118	124732118	-1	no_errors	ENST00000311127	ensembl	human	known	69_37n	missense	205	14.94	36	SNP	0.000	C
HELQ	113510	genome.wustl.edu	37	4	84375038	84375038	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:84375038T>C	ENST00000295488.3	-	2	520	c.358A>G	c.(358-360)Ata>Gta	p.I120V	HELQ_ENST00000510985.1_Missense_Mutation_p.I120V|MRPS18C_ENST00000507019.1_5'Flank|MRPS18C_ENST00000295491.4_5'Flank|MRPS18C_ENST00000507349.1_5'Flank|HELQ_ENST00000440639.2_5'UTR	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	120					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ACTTGAGCTATAAAGGAGTTT	0.383								Other identified genes with known or suspected DNA repair function																														dbGAP											0													185.0	194.0	191.0					4																	84375038		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.358A>G	4.37:g.84375038T>C	ENSP00000295488:p.Ile120Val		Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I120V	ENST00000295488.3	37	c.358	CCDS3603.1	4	.	.	.	.	.	.	.	.	.	.	T	10.88	1.474292	0.26423	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.63096	0.41;-0.02	5.65	1.68	0.24146	.	0.344924	0.22340	N	0.061353	T	0.33904	0.0879	N	0.08118	0	0.09310	N	0.999993	B;B;B;B	0.20887	0.001;0.049;0.008;0.01	B;B;B;B	0.16289	0.001;0.015;0.003;0.004	T	0.16100	-1.0414	10	0.51188	T	0.08	-39.3525	2.6955	0.05133	0.4388:0.1213:0.0663:0.3736	.	120;120;83;120	E3W980;E3W982;Q8TDG4-2;Q8TDG4	.;.;.;HELQ_HUMAN	V	120	ENSP00000295488:I120V;ENSP00000424539:I120V	ENSP00000295488:I120V	I	-	1	0	HELQ	84594062	0.188000	0.23250	0.926000	0.36857	0.598000	0.36846	0.071000	0.14594	0.052000	0.16007	-0.339000	0.08088	ATA	HELQ	-	NULL	ENSG00000163312		0.383	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELQ	HGNC	protein_coding	OTTHUMT00000252810.1	225	0.00	0	T	NM_133636		84375038	84375038	-1	no_errors	ENST00000295488	ensembl	human	known	69_37n	missense	97	16.24	19	SNP	0.347	C
HERC2P3	283755	genome.wustl.edu	37	15	20666581	20666581	+	RNA	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:20666581G>A	ENST00000428453.1	-	0	737							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GTATGGTGACGCCTTCTTGGT	0.433																																						dbGAP											0													7.0	6.0	6.0					15																	20666581		1923	3874	5797	-	-	-			0			AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20666581G>A				RNA	SNP	-	NULL	ENST00000428453.1	37	NULL		15																																																																																			HERC2P3	-	-	ENSG00000180229		0.433	HERC2P3-014	KNOWN	basic	processed_transcript	HERC2P3	HGNC	pseudogene	OTTHUMT00000347772.2	31	0.00	0	G	NG_008269		20666581	20666581	-1	no_errors	ENST00000428453	ensembl	human	known	69_37n	rna	20	20.00	5	SNP	0.972	A
HERC1	8925	genome.wustl.edu	37	15	63972327	63972327	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:63972327T>C	ENST00000443617.2	-	36	6585	c.6498A>G	c.(6496-6498)gcA>gcG	p.A2166A	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2166	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACAACTCTGCTGCATCCACAT	0.338																																						dbGAP											0													104.0	99.0	101.0					15																	63972327		1856	4099	5955	-	-	-	SO:0001819	synonymous_variant	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6498A>G	15.37:g.63972327T>C			Q8IW65	Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.A2166	ENST00000443617.2	37	c.6498	CCDS45277.1	15																																																																																			HERC1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000103657		0.338	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	166	0.00	0	T	NM_003922		63972327	63972327	-1	no_errors	ENST00000443617	ensembl	human	known	69_37n	silent	39	20.41	10	SNP	1.000	C
HEY1	23462	genome.wustl.edu	37	8	80677450	80677450	+	Silent	SNP	A	A	T	rs191861249		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:80677450A>T	ENST00000354724.3	-	5	1087	c.888T>A	c.(886-888)ccT>ccA	p.P296P	HEY1_ENST00000337919.5_Silent_p.P300P|HEY1_ENST00000523976.1_Silent_p.P206P|RP11-27N21.3_ENST00000607172.1_lincRNA|HEY1_ENST00000435063.2_5'UTR	NM_012258.3	NP_036390.3	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	296					angiogenesis (GO:0001525)|anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular valve formation (GO:0003190)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac septum morphogenesis (GO:0060411)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to glucocorticoid stimulus (GO:0071385)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion morphogenesis (GO:0003203)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve morphogenesis (GO:0003184)|regulation of vasculogenesis (GO:2001212)|transcription from RNA polymerase II promoter (GO:0006366)|umbilical cord morphogenesis (GO:0036304)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			CCGTCCCCCAAGGTCTATAGG	0.522			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP		Dom	yes		8	8q21	23462	hairy/enhancer-of-split related with YRPW motif 1		M	0													32.0	28.0	29.0					8																	80677450		2141	4206	6347	-	-	-	SO:0001819	synonymous_variant	0			AF151522	CCDS6225.1, CCDS43749.1, CCDS64915.1	8q21	2013-10-17	2013-10-17					"""Basic helix-loop-helix proteins"""	4880	protein-coding gene	gene with protein product		602953	"""hairy/enhancer-of-split related with YRPW motif 1"""			10415358, 10403790	Standard	NM_001040708		Approved	HESR-1, CHF2, HESR1, HRT-1, CHF-2, HERP2, BHLHb31	uc003ybl.3	Q9Y5J3		ENST00000354724.3:c.888T>A	8.37:g.80677450A>T		1200	B2R883|Q5TZS3|Q8NAM2|Q9NYP4	Silent	SNP	pfam_HLH_DNA-bd,pfam_Orange,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_DNA-bd	p.P300	ENST00000354724.3	37	c.900	CCDS6225.1	8																																																																																			HEY1	-	NULL	ENSG00000164683		0.522	HEY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HEY1	HGNC	protein_coding	OTTHUMT00000379516.1	130	0.00	0	A	NM_012258		80677450	80677450	-1	no_errors	ENST00000337919	ensembl	human	known	69_37n	silent	243	22.12	69	SNP	0.995	T
HIPK2	28996	genome.wustl.edu	37	7	139281515	139281515	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:139281515T>C	ENST00000406875.3	-	12	2759	c.2665A>G	c.(2665-2667)Acc>Gcc	p.T889A	HIPK2_ENST00000428878.2_Missense_Mutation_p.T862A|HIPK2_ENST00000342645.6_Intron	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	889	Interaction with HMGA1. {ECO:0000250}.|Interaction with POU4F1. {ECO:0000250}.|Interaction with TP53 and TP73.|Interaction with UBE2I. {ECO:0000250}.|Required for localization to nuclear speckles. {ECO:0000250}.|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CTGCTGATGGTGATGACGCTG	0.642																																						dbGAP											0													121.0	132.0	128.0					7																	139281515		2201	4295	6496	-	-	-	SO:0001583	missense	0			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2665A>G	7.37:g.139281515T>C	ENSP00000385571:p.Thr889Ala		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T889A	ENST00000406875.3	37	c.2665		7	.	.	.	.	.	.	.	.	.	.	T	26.3	4.724099	0.89298	.	.	ENSG00000064393	ENST00000406875;ENST00000428878	T;T	0.24908	1.83;1.83	5.41	5.41	0.78517	.	.	.	.	.	T	0.52725	0.1752	.	.	.	0.54753	D	0.999981	D;D	0.61697	0.982;0.99	D;D	0.73380	0.952;0.98	T	0.57670	-0.7771	8	0.87932	D	0	.	15.612	0.76733	0.0:0.0:0.0:1.0	.	889;862	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	A	889;862	ENSP00000385571:T889A;ENSP00000413724:T862A	ENSP00000385571:T889A	T	-	1	0	HIPK2	138932055	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.525000	0.81892	2.281000	0.76405	0.533000	0.62120	ACC	HIPK2	-	NULL	ENSG00000064393		0.642	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	HIPK2	HGNC	protein_coding	OTTHUMT00000349430.3	440	0.45	2	T	NM_022740		139281515	139281515	-1	no_errors	ENST00000406875	ensembl	human	known	69_37n	missense	474	14.00	78	SNP	1.000	C
HIST1H2AJ	8331	genome.wustl.edu	37	6	27782349	27782349	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:27782349T>C	ENST00000333151.3	-	1	258	c.170A>G	c.(169-171)gAg>gGg	p.E57G	HIST1H2BM_ENST00000359465.4_5'Flank	NM_021066.2	NP_066544.1	Q99878	H2A1J_HUMAN	histone cluster 1, H2aj	57						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	11						GGTCAGGTACTCCAGCACCGC	0.657																																						dbGAP											0													12.0	15.0	14.0					6																	27782349		2122	4201	6323	-	-	-	SO:0001583	missense	0			Z83736	CCDS4628.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000182611	ENSG00000276368		"""Histones / Replication-dependent"""	4727	protein-coding gene	gene with protein product		602791	"""H2A histone family, member E"", ""histone 1, H2aj"""	H2AFE		9439656, 12408966	Standard	NM_021066		Approved	H2A/E	uc003njn.1	Q99878	OTTHUMG00000014486	ENST00000333151.3:c.170A>G	6.37:g.27782349T>C	ENSP00000328484:p.Glu57Gly		A2RUU6|Q5JXQ5	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.E57G	ENST00000333151.3	37	c.170	CCDS4628.1	6	.	.	.	.	.	.	.	.	.	.	.	19.42	3.823466	0.71143	.	.	ENSG00000182611	ENST00000333151	D	0.91894	-2.93	4.15	4.15	0.48705	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.32687	U	0.005779	D	0.97617	0.9219	H	0.99225	4.475	0.41969	D	0.990741	D	0.89917	1.0	D	0.97110	1.0	D	0.98550	1.0636	10	0.87932	D	0	.	13.3658	0.60682	0.0:0.0:0.0:1.0	.	57	Q99878	H2A1J_HUMAN	G	57	ENSP00000328484:E57G	ENSP00000328484:E57G	E	-	2	0	HIST1H2AJ	27890328	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.772000	0.68889	2.087000	0.62958	0.533000	0.62120	GAG	HIST1H2AJ	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000182611		0.657	HIST1H2AJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AJ	HGNC	protein_coding	OTTHUMT00000040154.1	50	0.00	0	T	NM_021066		27782349	27782349	-1	no_errors	ENST00000333151	ensembl	human	known	69_37n	missense	65	13.33	10	SNP	1.000	C
HIVEP2	3097	genome.wustl.edu	37	6	143093049	143093049	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:143093049G>A	ENST00000367604.1	-	4	3466	c.2827C>T	c.(2827-2829)Cga>Tga	p.R943*	HIVEP2_ENST00000367603.2_Nonsense_Mutation_p.R943*|HIVEP2_ENST00000012134.2_Nonsense_Mutation_p.R943*			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	943					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCTGCAAGTCGCAGACGCTTC	0.572																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	dbGAP											0													65.0	69.0	68.0					6																	143093049		1920	4145	6065	-	-	-	SO:0001587	stop_gained	0			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.2827C>T	6.37:g.143093049G>A	ENSP00000356576:p.Arg943*		Q02646|Q5THT5|Q9NS05	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R943*	ENST00000367604.1	37	c.2827	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	G	47	13.581683	0.99751	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	.	.	.	5.8	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9251	14.7119	0.69238	0.0:0.0:0.6477:0.3523	.	.	.	.	X	943	.	ENSP00000012134:R943X	R	-	1	2	HIVEP2	143134742	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	3.997000	0.57016	1.404000	0.46819	0.655000	0.94253	CGA	HIVEP2	-	NULL	ENSG00000010818		0.572	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	34	0.00	0	G			143093049	143093049	-1	no_errors	ENST00000012134	ensembl	human	known	69_37n	nonsense	82	14.58	14	SNP	1.000	A
HMGXB3	22993	genome.wustl.edu	37	5	149410393	149410393	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:149410393T>C	ENST00000502717.1	+	10	2288	c.1824T>C	c.(1822-1824)acT>acC	p.T608T	snoU13_ENST00000458810.1_RNA|HMGXB3_ENST00000503427.1_Silent_p.T576T	NM_014983.2	NP_055798	Q12766	HMGX3_HUMAN	HMG box domain containing 3	854					phosphorylation (GO:0016310)	nucleus (GO:0005634)	DNA binding (GO:0003677)|kinase activity (GO:0016301)			central_nervous_system(1)|endometrium(3)|kidney(3)|skin(2)	9						ACAGCTGCACTGTCACATTGG	0.502																																						dbGAP											0													243.0	193.0	208.0					5																	149410393		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			D83778	CCDS54935.1	5q33.1	2011-07-01		2009-01-05	ENSG00000113716	ENSG00000113716		"""High mobility group / Non-canonical"""	28982	protein-coding gene	gene with protein product				HMGX3		8724849	Standard	NM_014983		Approved	SMF, KIAA0194	uc003lrk.4	Q12766	OTTHUMG00000163493	ENST00000502717.1:c.1824T>C	5.37:g.149410393T>C			G5E9Y4|Q86UG3|Q9UMF4	Missense_Mutation	SNP	NULL	p.C49R	ENST00000502717.1	37	c.145	CCDS54935.1	5																																																																																			HMGXB3	-	NULL	ENSG00000113716		0.502	HMGXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGXB3	HGNC	protein_coding	OTTHUMT00000373771.1	487	0.00	0	T	XM_001717202		149410393	149410393	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000514469	ensembl	human	known	69_37n	missense	114	11.63	15	SNP	0.991	C
HK3	3101	genome.wustl.edu	37	5	176308441	176308441	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:176308441T>G	ENST00000292432.5	-	18	2580	c.2489A>C	c.(2488-2490)cAg>cCg	p.Q830P		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	830	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACACAGCCTGGCACACCTC	0.657																																						dbGAP											0													50.0	54.0	53.0					5																	176308441		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.2489A>C	5.37:g.176308441T>G	ENSP00000292432:p.Gln830Pro		Q8N1E7	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.Q830P	ENST00000292432.5	37	c.2489	CCDS4407.1	5	.	.	.	.	.	.	.	.	.	.	T	17.30	3.355151	0.61293	.	.	ENSG00000160883	ENST00000292432	D	0.96522	-4.04	5.35	5.35	0.76521	Hexokinase, C-terminal (1);	0.000000	0.49305	D	0.000145	D	0.96364	0.8814	L	0.60067	1.865	0.44067	D	0.996816	D	0.56521	0.976	P	0.57548	0.823	D	0.95687	0.8737	10	0.49607	T	0.09	.	9.8052	0.40789	0.0:0.0781:0.0:0.9219	.	830	P52790	HXK3_HUMAN	P	830	ENSP00000292432:Q830P	ENSP00000292432:Q830P	Q	-	2	0	HK3	176241047	0.998000	0.40836	1.000000	0.80357	0.889000	0.51656	2.390000	0.44416	2.154000	0.67381	0.459000	0.35465	CAG	HK3	-	pfam_Hexokinase_C,prints_Hexokinase	ENSG00000160883		0.657	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK3	HGNC	protein_coding	OTTHUMT00000253428.1	84	0.00	0	T			176308441	176308441	-1	no_errors	ENST00000292432	ensembl	human	known	69_37n	missense	127	12.33	18	SNP	1.000	G
HNRNPUL2	221092	genome.wustl.edu	37	11	62487606	62487606	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:62487606G>A	ENST00000301785.5	-	10	1861	c.1669C>T	c.(1669-1671)Cgg>Tgg	p.R557W	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.R557W	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	557						membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ACCACTTTCCGAGAGAAGGTC	0.438																																						dbGAP											0													202.0	193.0	196.0					11																	62487606		1910	4119	6029	-	-	-	SO:0001583	missense	0				CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1669C>T	11.37:g.62487606G>A	ENSP00000301785:p.Arg557Trp		Q8N3B3	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.R557W	ENST00000301785.5	37	c.1669	CCDS41659.1	11	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204191	0.79127	.	.	ENSG00000214753	ENST00000301785	T	0.44083	0.93	5.79	1.56	0.23342	.	0.000000	0.85682	D	0.000000	T	0.65995	0.2745	M	0.85777	2.775	0.54753	D	0.999984	D	0.89917	1.0	D	0.91635	0.999	T	0.70375	-0.4889	10	0.87932	D	0	-11.8881	13.8848	0.63702	0.0:0.0:0.4649:0.5351	.	557	Q1KMD3	HNRL2_HUMAN	W	557	ENSP00000301785:R557W	ENSP00000301785:R557W	R	-	1	2	HNRNPUL2	62244182	1.000000	0.71417	0.904000	0.35570	0.913000	0.54294	4.764000	0.62264	0.026000	0.15269	-0.169000	0.13324	CGG	HNRNPUL2	-	pfam_Chromatin_KTI12	ENSG00000214753		0.438	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL2	HGNC	protein_coding	OTTHUMT00000396208.2	659	0.15	1	G	XM_495877		62487606	62487606	-1	no_errors	ENST00000301785	ensembl	human	known	69_37n	missense	389	15.98	74	SNP	0.999	A
HOOK2	29911	genome.wustl.edu	37	19	12878650	12878650	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:12878650G>A	ENST00000397668.3	-	13	1356	c.1283C>T	c.(1282-1284)cCg>cTg	p.P428L	HOOK2_ENST00000264827.5_Missense_Mutation_p.P428L|HOOK2_ENST00000589965.1_Intron	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	428	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CAACCCCCGCGGCTGCAGCTG	0.642																																						dbGAP											0													20.0	24.0	22.0					19																	12878650		1903	4116	6019	-	-	-	SO:0001583	missense	0			AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1283C>T	19.37:g.12878650G>A	ENSP00000380785:p.Pro428Leu		O60562	Missense_Mutation	SNP	pfam_HOOK,superfamily_UBA-like	p.P428L	ENST00000397668.3	37	c.1283	CCDS42508.1	19	.	.	.	.	.	.	.	.	.	.	G	22.4	4.291057	0.80914	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.17054	2.3;2.3	5.61	1.19	0.21007	.	0.181320	0.48767	D	0.000169	T	0.18087	0.0434	L	0.51422	1.61	0.45634	D	0.998568	D;D	0.58970	0.98;0.984	P;P	0.52159	0.564;0.691	T	0.04870	-1.0921	10	0.34782	T	0.22	-25.5628	3.1354	0.06437	0.09:0.1233:0.4248:0.3619	.	428;428	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	L	428	ENSP00000380785:P428L;ENSP00000264827:P428L	ENSP00000264827:P428L	P	-	2	0	HOOK2	12739650	1.000000	0.71417	0.878000	0.34440	0.868000	0.49771	4.093000	0.57714	1.320000	0.45209	0.558000	0.71614	CCG	HOOK2	-	pfam_HOOK	ENSG00000095066		0.642	HOOK2-002	KNOWN	basic|CCDS	protein_coding	HOOK2	HGNC	protein_coding	OTTHUMT00000451008.1	20	0.00	0	G	NM_013312		12878650	12878650	-1	no_errors	ENST00000397668	ensembl	human	known	69_37n	missense	29	34.09	15	SNP	0.798	A
HOXC8	3224	genome.wustl.edu	37	12	54403416	54403416	+	Silent	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:54403416C>A	ENST00000040584.4	+	1	585	c.348C>A	c.(346-348)tcC>tcA	p.S116S	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	116					anterior/posterior pattern specification (GO:0009952)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S116S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						ACTGTAAATCCTCCGCCAACA	0.537																																					GBM(197;701 2226 7002 18822 41696)	dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											157.0	152.0	154.0					12																	54403416		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X99680	CCDS8870.1	12q13.13	2011-06-20	2005-12-22			ENSG00000037965		"""Homeoboxes / ANTP class : HOXL subclass"""	5129	protein-coding gene	gene with protein product		142970	"""homeo box C8"""	HOX3, HOX3A		1973146, 1358459	Standard	NM_022658		Approved		uc001ser.3	P31273		ENST00000040584.4:c.348C>A	12.37:g.54403416C>A			A8K4J4|O15221|O15362	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_HTH_motif	p.S116	ENST00000040584.4	37	c.348	CCDS8870.1	12																																																																																			HOXC8	-	NULL	ENSG00000037965		0.537	HOXC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC8	HGNC	protein_coding	OTTHUMT00000358957.2	87	0.00	0	C			54403416	54403416	+1	no_errors	ENST00000040584	ensembl	human	known	69_37n	silent	136	12.26	19	SNP	1.000	A
HPS1	3257	genome.wustl.edu	37	10	100193844	100193844	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:100193844G>A	ENST00000325103.6	-	6	636	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	HPS1_ENST00000338546.5_Missense_Mutation_p.R135W|MIR4685_ENST00000578185.1_RNA|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.R135W	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	135					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TCTGGGGGCCGCAGCCTGGGG	0.652									Hermansky-Pudlak syndrome																													dbGAP											0																																										-	-	-	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.403C>T	10.37:g.100193844G>A	ENSP00000326649:p.Arg135Trp		A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Missense_Mutation	SNP	NULL	p.R135W	ENST00000325103.6	37	c.403	CCDS7475.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.8|24.8	4.573088|4.573088	0.86542|0.86542	.|.	.|.	ENSG00000107521|ENSG00000107521	ENST00000414009|ENST00000325103;ENST00000361490;ENST00000407891;ENST00000338546	.|T;T;T	.|0.32515	.|1.45;1.45;1.45	5.16|5.16	4.23|4.23	0.50019|0.50019	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57784|0.57784	0.2077|0.2077	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|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;1.0	T|T	0.64867|0.64867	-0.6306|-0.6306	5|10	.|0.87932	.|D	.|0	.|.	14.8162|14.8162	0.70036|0.70036	0.0:0.0:0.8548:0.1452|0.0:0.0:0.8548:0.1452	.|.	.|135;135;135;135	.|Q92902;Q92902-3;Q8WXE5;D3DR62	.|HPS1_HUMAN;.;.;.	V|W	2|135	.|ENSP00000326649:R135W;ENSP00000355310:R135W;ENSP00000343638:R135W	.|ENSP00000326649:R135W	A|R	-|-	2|1	0|2	HPS1|HPS1	100183834|100183834	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.163000|7.163000	0.77524|0.77524	1.130000|1.130000	0.42092|0.42092	0.561000|0.561000	0.74099|0.74099	GCG|CGG	HPS1	-	NULL	ENSG00000107521		0.652	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS1	HGNC	protein_coding	OTTHUMT00000049776.1	10	0.00	0	G	NM_000195, NM_182637, NM_182638, NM_182639		100193844	100193844	-1	no_errors	ENST00000325103	ensembl	human	known	69_37n	missense	25	21.88	7	SNP	1.000	A
HRNR	388697	genome.wustl.edu	37	1	152190750	152190750	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:152190750C>A	ENST00000368801.2	-	3	3430	c.3355G>T	c.(3355-3357)Ggc>Tgc	p.G1119C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1119					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCAGAGCCCTGTCGGCCA	0.627																																						dbGAP											0													3.0	4.0	4.0					1																	152190750		1377	3003	4380	-	-	-	SO:0001583	missense	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.3355G>T	1.37:g.152190750C>A	ENSP00000357791:p.Gly1119Cys		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.G1119C	ENST00000368801.2	37	c.3355	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	5.466	0.271012	0.10349	.	.	ENSG00000197915	ENST00000368801	T	0.03889	3.77	3.84	-7.67	0.01272	.	.	.	.	.	T	0.01835	0.0058	L	0.53249	1.67	0.09310	N	1	D	0.64830	0.994	P	0.48189	0.57	T	0.06058	-1.0848	9	0.38643	T	0.18	.	3.6316	0.08134	0.1135:0.3948:0.3433:0.1484	.	1119	Q86YZ3	HORN_HUMAN	C	1119	ENSP00000357791:G1119C	ENSP00000357791:G1119C	G	-	1	0	HRNR	150457374	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.066000	0.03454	-1.522000	0.01769	-0.893000	0.02921	GGC	HRNR	-	NULL	ENSG00000197915		0.627	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	164	0.00	0	C	XM_373868		152190750	152190750	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	missense	153	35.02	83	SNP	0.000	A
HSD17B7	51478	genome.wustl.edu	37	1	162773289	162773289	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:162773289G>A	ENST00000254521.3	+	6	766	c.711G>A	c.(709-711)ccG>ccA	p.P237P	HSD17B7_ENST00000367917.3_Intron|HSD17B7_ENST00000485405.1_3'UTR	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	237					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TTCTGCCTCCGTTTATATGGA	0.398																																						dbGAP											0													130.0	113.0	119.0					1																	162773289		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5215	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 37C, member 1"""	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.711G>A	1.37:g.162773289G>A			Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH	p.P237	ENST00000254521.3	37	c.711	CCDS1242.1	1																																																																																			HSD17B7	-	NULL	ENSG00000132196		0.398	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B7	HGNC	protein_coding	OTTHUMT00000083207.1	325	0.00	0	G	NM_016371		162773289	162773289	+1	no_errors	ENST00000254521	ensembl	human	known	69_37n	silent	57	21.92	16	SNP	0.940	A
HSPA4	3308	genome.wustl.edu	37	5	132424803	132424803	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:132424803A>G	ENST00000304858.2	+	10	1483	c.1194A>G	c.(1192-1194)gtA>gtG	p.V398V		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	398					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGATGTAGTACCATATCCAA	0.323																																					Colon(114;1299 1588 6063 12302 48757)	dbGAP											0													102.0	104.0	103.0					5																	132424803		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1194A>G	5.37:g.132424803A>G			O95756|Q2TAL4|Q9BUK9	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.V398	ENST00000304858.2	37	c.1194	CCDS4166.1	5																																																																																			HSPA4	-	pfam_Hsp_70_fam	ENSG00000170606		0.323	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA4	HGNC	protein_coding	OTTHUMT00000251011.1	159	0.00	0	A	NM_002154, NM_198431		132424803	132424803	+1	no_errors	ENST00000304858	ensembl	human	known	69_37n	silent	39	18.75	9	SNP	0.990	G
HTR2A	3356	genome.wustl.edu	37	13	47466654	47466654	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr13:47466654A>G	ENST00000378688.4	-	2	615	c.484T>C	c.(484-486)Tcc>Ccc	p.S162P	HTR2A_ENST00000543956.1_Missense_Mutation_p.S78P|HTR2A_ENST00000542664.1_Missense_Mutation_p.S162P			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	162					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGCATGATGGAGGCCGTGGAG	0.567																																						dbGAP											0													198.0	188.0	191.0					13																	47466654		2203	4300	6503	-	-	-	SO:0001583	missense	0			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.484T>C	13.37:g.47466654A>G	ENSP00000367959:p.Ser162Pro		B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT2A_rcpt,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt	p.S162P	ENST00000378688.4	37	c.484	CCDS9405.1	13	.	.	.	.	.	.	.	.	.	.	A	33	5.238813	0.95240	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.55930	0.49;0.49;0.49	6.16	6.16	0.99307	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84606	0.5509	H	0.99130	4.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90988	0.4833	10	0.87932	D	0	.	15.9872	0.80168	1.0:0.0:0.0:0.0	.	78;162	F5GWE8;P28223	.;5HT2A_HUMAN	P	162;78;162	ENSP00000367959:S162P;ENSP00000441861:S78P;ENSP00000437737:S162P	ENSP00000367959:S162P	S	-	1	0	HTR2A	46364655	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.331000	0.96430	2.367000	0.80283	0.528000	0.53228	TCC	HTR2A	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000102468		0.567	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2A	HGNC	protein_coding	OTTHUMT00000044835.3	267	0.00	0	A	NM_000621		47466654	47466654	-1	no_errors	ENST00000378688	ensembl	human	known	69_37n	missense	250	13.19	38	SNP	1.000	G
IFI44	10561	genome.wustl.edu	37	1	79116235	79116236	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:79116235_79116236insT	ENST00000370747.4	+	2	440_441	c.355_356insT	c.(355-357)agafs	p.R119fs	IFI44_ENST00000495254.1_Intron|IFI44_ENST00000545124.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	119					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						GATAGATGGAAGAAATAGAAAA	0.322																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	Exception_encountered	1.37:g.79116235_79116236insT	ENSP00000359783:p.Arg119fs		B7ZAG3|D3DQ80|Q14496	Frame_Shift_Ins	INS	pfam_TLDc	p.R119fs	ENST00000370747.4	37	c.355_356	CCDS688.1	1																																																																																			IFI44	-	pfam_TLDc	ENSG00000137965		0.322	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44	HGNC	protein_coding	OTTHUMT00000026825.1	30	0.00	0	-	NM_006417		79116235	79116236	+1	no_errors	ENST00000370747	ensembl	human	known	69_37n	frame_shift_ins	8	20.00	2	INS	0.000:0.000	T
IBA57	200205	genome.wustl.edu	37	1	228362453	228362453	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:228362453C>T	ENST00000366711.3	+	2	404	c.402C>T	c.(400-402)ggC>ggT	p.G134G	IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_5'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	134					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CGGTGCAGGGCGCGCTGCAGA	0.662																																						dbGAP											0													24.0	24.0	24.0					1																	228362453		2199	4297	6496	-	-	-	SO:0001819	synonymous_variant	0			AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"""iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"""	615316	"""chromosome 1 open reading frame 69"""	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.402C>T	1.37:g.228362453C>T				Silent	SNP	pfam_GCV_T_N,pfam_GCV_T_C,tigrfam_YgfZ/GcvT_CS	p.G134	ENST00000366711.3	37	c.402	CCDS31046.1	1																																																																																			IBA57	-	pfam_GCV_T_N	ENSG00000181873		0.662	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBA57	HGNC	protein_coding	OTTHUMT00000095980.1	28	0.00	0	C	NM_001010867		228362453	228362453	+1	no_errors	ENST00000366711	ensembl	human	known	69_37n	silent	42	41.67	30	SNP	0.000	T
IFNAR2	3455	genome.wustl.edu	37	21	34635689	34635689	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr21:34635689C>T	ENST00000342136.4	+	9	1758	c.1432C>T	c.(1432-1434)Cag>Tag	p.Q478*	AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000404220.3_3'UTR|IL10RB-AS1_ENST00000411998.1_RNA|IL10RB_ENST00000290200.2_5'Flank|IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000382241.3_Nonsense_Mutation_p.Q478*			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	478					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	GGAAGGGACACAGCCAACCTT	0.532																																						dbGAP											0													121.0	119.0	120.0					21																	34635689		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"""Interferons"""	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.1432C>T	21.37:g.34635689C>T	ENSP00000343957:p.Gln478*		A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Nonsense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3	p.Q478*	ENST00000342136.4	37	c.1432	CCDS13621.1	21	.	.	.	.	.	.	.	.	.	.	C	34	5.396722	0.96009	.	.	ENSG00000159110	ENST00000382241;ENST00000342136	.	.	.	3.63	0.616	0.17613	.	2.839440	0.01037	N	0.004247	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	6.5034	0.22182	0.196:0.4218:0.3822:0.0	.	.	.	.	X	478	.	ENSP00000343957:Q478X	Q	+	1	0	IFNAR2	33557559	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.519000	0.06260	0.114000	0.18032	0.655000	0.94253	CAG	IFNAR2	-	NULL	ENSG00000159110		0.532	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFNAR2	HGNC	protein_coding	OTTHUMT00000139825.1	82	0.00	0	C			34635689	34635689	+1	no_errors	ENST00000342136	ensembl	human	known	69_37n	nonsense	92	20.51	24	SNP	0.000	T
IGF2BP2	10644	genome.wustl.edu	37	3	185407411	185407411	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:185407411T>C	ENST00000382199.2	-	6	504	c.409A>G	c.(409-411)Atg>Gtg	p.M137V	IGF2BP2_ENST00000494906.1_5'Flank|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.M137V|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.M80V|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.M143V	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	137	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			AGCTTCTCCATGGCTCTGAAA	0.577																																						dbGAP											0													56.0	60.0	58.0					3																	185407411		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.409A>G	3.37:g.185407411T>C	ENSP00000371634:p.Met137Val		A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.M137V	ENST00000382199.2	37	c.409	CCDS3273.2	3	.	.	.	.	.	.	.	.	.	.	T	3.284	-0.146466	0.06627	.	.	ENSG00000073792	ENST00000382199;ENST00000421047;ENST00000457616;ENST00000346192	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	5.12	2.66	0.31614	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.353602	0.33217	N	0.005150	T	0.04318	0.0119	N	0.04148	-0.265	0.25573	N	0.986876	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.0;0.001;0.001	T	0.43147	-0.9409	10	0.06494	T	0.89	-0.621	4.9852	0.14187	0.0:0.1767:0.1527:0.6706	.	74;74;80;143;137;137	Q9Y6M1-5;Q9Y6M1-3;Q9Y6M1-4;F8W930;Q9Y6M1-1;Q9Y6M1	.;.;.;.;.;IF2B2_HUMAN	V	137;80;143;137	ENSP00000371634:M137V;ENSP00000413787:M80V;ENSP00000410242:M143V;ENSP00000320204:M137V	ENSP00000320204:M137V	M	-	1	0	IGF2BP2	186890105	1.000000	0.71417	0.966000	0.40874	0.769000	0.43574	2.131000	0.42074	0.333000	0.23563	-1.239000	0.01543	ATG	IGF2BP2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000073792		0.577	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGF2BP2	HGNC	protein_coding	OTTHUMT00000157087.2	37	0.00	0	T	NM_006548		185407411	185407411	-1	no_errors	ENST00000382199	ensembl	human	known	69_37n	missense	29	11.76	4	SNP	0.958	C
IGSF3	3321	genome.wustl.edu	37	1	117131360	117131360	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:117131360G>A	ENST00000369486.3	-	8	3161	c.2396C>T	c.(2395-2397)gCa>gTa	p.A799V	IGSF3_ENST00000369483.1_Missense_Mutation_p.A819V|IGSF3_ENST00000318837.6_Missense_Mutation_p.A819V	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	799	Ig-like C2-type 6.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AACCTCCTCTGCCAGCTTGTA	0.622																																						dbGAP											0													23.0	24.0	24.0					1																	117131360		2203	4286	6489	-	-	-	SO:0001583	missense	0			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2396C>T	1.37:g.117131360G>A	ENSP00000358498:p.Ala799Val		A6NJZ6|A6NMC7	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.A819V	ENST00000369486.3	37	c.2456	CCDS30813.1	1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737762	0.89573	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.03496	3.91;3.97;3.97	3.87	3.87	0.44632	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.144449	0.47852	D	0.000202	T	0.06508	0.0167	L	0.54323	1.7	0.54753	D	0.999986	P;D;D	0.53462	0.95;0.96;0.96	P;P;P	0.58928	0.763;0.765;0.848	T	0.10359	-1.0633	10	0.72032	D	0.01	-15.7917	13.3755	0.60736	0.0:0.0:1.0:0.0	.	819;799;819	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	V	799;819;819	ENSP00000358498:A799V;ENSP00000358495:A819V;ENSP00000321184:A819V	ENSP00000321184:A819V	A	-	2	0	IGSF3	116932883	1.000000	0.71417	0.977000	0.42913	0.991000	0.79684	8.885000	0.92439	1.977000	0.57605	0.462000	0.41574	GCA	IGSF3	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000143061		0.622	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF3	HGNC	protein_coding	OTTHUMT00000059040.1	123	0.00	0	G	NM_001542		117131360	117131360	-1	no_errors	ENST00000318837	ensembl	human	known	69_37n	missense	47	11.32	6	SNP	0.998	A
IGFN1	91156	genome.wustl.edu	37	1	201185644	201185644	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:201185644C>A	ENST00000335211.4	+	16	9488	c.9358C>A	c.(9358-9360)Ctc>Atc	p.L3120I	IGFN1_ENST00000295591.8_Missense_Mutation_p.L280I	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	663						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGGCGTCTGCCTCCGCTGGCG	0.657																																						dbGAP											0													20.0	22.0	22.0					1																	201185644		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.9358C>A	1.37:g.201185644C>A	ENSP00000334714:p.Leu3120Ile		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L3120I	ENST00000335211.4	37	c.9358	CCDS53455.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.02|18.02	3.529046|3.529046	0.64860|0.64860	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000335211;ENST00000295591|ENST00000412892	D;D|.	0.86366|.	-2.11;-2.11|.	4.06|4.06	4.06|4.06	0.47325|0.47325	.|.	0.189028|.	0.37437|.	N|.	0.002085|.	T|T	0.40719|0.40719	0.1128|0.1128	L|L	0.43152|0.43152	1.355|1.355	0.26094|0.26094	N|N	0.980917|0.980917	P|.	0.35656|.	0.514|.	P|.	0.51516|.	0.672|.	T|T	0.23332|0.23332	-1.0191|-1.0191	10|5	0.23891|.	T|.	0.37|.	.|.	9.4345|9.4345	0.38630|0.38630	0.2794:0.7206:0.0:0.0|0.2794:0.7206:0.0:0.0	.|.	3120|.	F8WAI1|.	.|.	I|H	3120;280|537	ENSP00000334714:L3120I;ENSP00000295591:L280I|.	ENSP00000295591:L280I|.	L|P	+|+	1|2	0|0	IGFN1|IGFN1	199452267|199452267	1.000000|1.000000	0.71417|0.71417	0.955000|0.955000	0.39395|0.39395	0.753000|0.753000	0.42808|0.42808	4.604000|4.604000	0.61112|0.61112	2.096000|2.096000	0.63516|0.63516	0.561000|0.561000	0.74099|0.74099	CTC|CCT	IGFN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000163395		0.657	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		55	0.00	0	C	NM_178275		201185644	201185644	+1	no_errors	ENST00000335211	ensembl	human	known	69_37n	missense	85	11.46	11	SNP	0.715	A
IKZF1	10320	genome.wustl.edu	37	7	50468070	50468070	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:50468070C>T	ENST00000331340.3	+	8	1460	c.1305C>T	c.(1303-1305)taC>taT	p.Y435Y	IKZF1_ENST00000343574.5_Silent_p.Y348Y|IKZF1_ENST00000439701.1_Silent_p.Y393Y|IKZF1_ENST00000346667.4_Silent_p.Y205Y|IKZF1_ENST00000357364.4_Silent_p.Y348Y|IKZF1_ENST00000349824.4_Silent_p.Y292Y|IKZF1_ENST00000438033.1_Silent_p.Y348Y|IKZF1_ENST00000359197.5_Silent_p.Y393Y|IKZF1_ENST00000440768.2_3'UTR	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	435					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				ACCGCGCCTACGACCTGCTGC	0.672			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	dbGAP		"""Rec,Dom"""	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	28	Unknown(28)	haematopoietic_and_lymphoid_tissue(28)											29.0	33.0	32.0					7																	50468070		2127	4231	6358	-	-	-	SO:0001819	synonymous_variant	0			U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1305C>T	7.37:g.50468070C>T			A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y435	ENST00000331340.3	37	c.1305		7																																																																																			IKZF1	-	NULL	ENSG00000185811		0.672	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	IKZF1	HGNC	protein_coding	OTTHUMT00000342242.1	36	0.00	0	C	NM_006060		50468070	50468070	+1	no_errors	ENST00000331340	ensembl	human	known	69_37n	silent	45	28.12	18	SNP	0.999	T
IL23R	149233	genome.wustl.edu	37	1	67721609	67721609	+	Splice_Site	SNP	A	A	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:67721609A>T	ENST00000347310.5	+	10	1409	c.1238A>T	c.(1237-1239)cAg>cTg	p.Q413L	IL23R_ENST00000395227.1_Splice_Site_p.Q158L|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	413					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						AAAATGCTACAGGTAACCTAA	0.303																																						dbGAP											0													72.0	71.0	71.0					1																	67721609		2200	4300	6500	-	-	-	SO:0001630	splice_region_variant	0			AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1239+1A>T	1.37:g.67721609A>T			C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q413L	ENST00000347310.5	37	c.1238	CCDS637.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.92|19.92	3.917164|3.917164	0.73098|0.73098	.|.	.|.	ENSG00000162594|ENSG00000162594	ENST00000347310;ENST00000431791;ENST00000441823;ENST00000395227|ENST00000425614	T;T|.	0.39997|.	1.05;1.08|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.059220|.	0.64402|.	D|.	0.000002|.	T|T	0.61714|0.61714	0.2369|0.2369	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	P;D;P;D;P;D;D;D;P;D|.	0.67145|.	0.9;0.996;0.9;0.979;0.944;0.979;0.996;0.988;0.944;0.996|.	P;P;P;P;P;P;P;P;P;P|.	0.60236|.	0.628;0.871;0.628;0.714;0.628;0.714;0.871;0.844;0.714;0.871|.	T|T	0.64206|0.64206	-0.6462|-0.6462	10|5	0.87932|.	D|.	0|.	-2.8121|-2.8121	12.024|12.024	0.53360|0.53360	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	159;237;237;48;171;11;242;267;158;413|.	Q5VWK5-2;B6HY71;B6HY89;Q5VWK5-5;E9PHX4;Q5VWK5-7;E9PG12;B6HY79;Q5VWK5-6;Q5VWK5|.	.;.;.;.;.;.;.;.;.;IL23R_HUMAN|.	L|W	413;242;171;158|175	ENSP00000321345:Q413L;ENSP00000378652:Q158L|.	ENSP00000321345:Q413L|.	Q|R	+|+	2|1	0|2	IL23R|IL23R	67494197|67494197	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.813000|0.813000	0.45954|0.45954	5.188000|5.188000	0.65093|0.65093	2.097000|2.097000	0.63578|0.63578	0.455000|0.455000	0.32223|0.32223	CAG|AGG	IL23R	-	NULL	ENSG00000162594		0.303	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL23R	HGNC	protein_coding	OTTHUMT00000025199.2	118	0.00	0	A	NM_144701	Missense_Mutation	67721609	67721609	+1	no_errors	ENST00000347310	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	0.998	T
IMPDH1	3614	genome.wustl.edu	37	7	128033079	128033079	+	Silent	SNP	G	G	A	rs368622318		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:128033079G>A	ENST00000480861.1	-	14	1589	c.1512C>T	c.(1510-1512)taC>taT	p.Y504Y	IMPDH1_ENST00000419067.2_Silent_p.Y561Y|IMPDH1_ENST00000343214.4_Silent_p.Y484Y|IMPDH1_ENST00000338791.6_Silent_p.Y594Y|IMPDH1_ENST00000348127.6_Silent_p.Y558Y|IMPDH1_ENST00000470772.1_Silent_p.Y508Y|IMPDH1_ENST00000354269.5_Silent_p.Y584Y|IMPDH1_ENST00000496200.1_Silent_p.Y484Y|IMPDH1_ENST00000378717.4_Silent_p.Y525Y	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						GCCGCTTTTCGTAACTGTGGG	0.597																																						dbGAP											0													105.0	81.0	89.0					7																	128033079		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.1512C>T	7.37:g.128033079G>A				Silent	SNP	pfam_IMP_DH_GMPRt,pfam_Cysta_beta_synth_core,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_Cysta_beta_synth_core,tigrfam_IMP_DH	p.Y594	ENST00000480861.1	37	c.1782	CCDS55161.1	7																																																																																			IMPDH1	-	NULL	ENSG00000106348		0.597	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	IMPDH1	HGNC	protein_coding	OTTHUMT00000349462.1	155	0.64	1	G	NM_000883		128033079	128033079	-1	no_errors	ENST00000338791	ensembl	human	known	69_37n	silent	190	12.44	27	SNP	1.000	A
INCENP	3619	genome.wustl.edu	37	11	61908223	61908223	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:61908223A>G	ENST00000394818.3	+	9	1593	c.1391A>G	c.(1390-1392)cAg>cGg	p.Q464R	INCENP_ENST00000278849.4_Missense_Mutation_p.Q464R	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	464					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GACGAGGAGCAGCACCTGGAG	0.692																																						dbGAP											0													39.0	35.0	36.0					11																	61908223		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.1391A>G	11.37:g.61908223A>G	ENSP00000378295:p.Gln464Arg		A8MQD2|Q5Y192	Missense_Mutation	SNP	pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd	p.Q464R	ENST00000394818.3	37	c.1391	CCDS44624.1	11	.	.	.	.	.	.	.	.	.	.	A	8.157	0.788709	0.16258	.	.	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.15952	2.38;2.38	5.15	-4.15	0.03881	.	1.416730	0.04993	N	0.467598	T	0.30262	0.0759	M	0.62723	1.935	0.09310	N	1	D;B;B	0.76494	0.999;0.231;0.148	D;B;B	0.63488	0.915;0.082;0.038	T	0.41734	-0.9492	10	0.33141	T	0.24	.	6.2855	0.21031	0.2846:0.5331:0.0771:0.1052	.	464;464;464	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	R	464	ENSP00000378295:Q464R;ENSP00000278849:Q464R	ENSP00000278849:Q464R	Q	+	2	0	INCENP	61664799	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.076000	0.11412	-0.632000	0.05553	-1.243000	0.01532	CAG	INCENP	-	NULL	ENSG00000149503		0.692	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INCENP	HGNC	protein_coding	OTTHUMT00000394723.2	63	0.00	0	A	NM_020238		61908223	61908223	+1	no_errors	ENST00000394818	ensembl	human	known	69_37n	missense	83	26.96	31	SNP	0.000	G
INF2	64423	genome.wustl.edu	37	14	105180655	105180655	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:105180655C>T	ENST00000392634.4	+	21	3268	c.3156C>T	c.(3154-3156)gcC>gcT	p.A1052A	INF2_ENST00000330634.7_Silent_p.A1052A	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1052					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TTGTAGACGCCGTGACCCCCG	0.677																																						dbGAP											0													23.0	30.0	28.0					14																	105180655		1934	4111	6045	-	-	-	SO:0001819	synonymous_variant	0			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3156C>T	14.37:g.105180655C>T			Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_WH2_dom,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,pfscan_WH2_dom	p.A1052	ENST00000392634.4	37	c.3156	CCDS9989.2	14																																																																																			INF2	-	NULL	ENSG00000203485		0.677	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	HGNC	protein_coding	OTTHUMT00000074371.4	55	0.00	0	C	NM_022489		105180655	105180655	+1	no_errors	ENST00000392634	ensembl	human	known	69_37n	silent	73	32.11	35	SNP	0.003	T
INPP5B	3633	genome.wustl.edu	37	1	38411938	38411938	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:38411938C>T	ENST00000373026.1	-	1	43	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	INPP5B_ENST00000373021.1_Missense_Mutation_p.E15K|INPP5B_ENST00000373024.3_Missense_Mutation_p.E15K|INPP5B_ENST00000373023.2_Missense_Mutation_p.E15K			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	15					in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACGCAGTATTCCCCCTCAGCC	0.612																																						dbGAP											0													38.0	41.0	40.0					1																	38411938		2061	4209	6270	-	-	-	SO:0001583	missense	0			M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.43G>A	1.37:g.38411938C>T	ENSP00000362117:p.Glu15Lys		C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E15K	ENST00000373026.1	37	c.43		1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824267	0.90955	.	.	ENSG00000204084	ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024;ENST00000373021	D;D;D;T	0.94497	-3.41;-3.41;-3.44;0.06	5.09	5.09	0.68999	.	0.062426	0.64402	D	0.000008	D	0.94512	0.8233	M	0.66939	2.045	0.80722	D	1	P	0.38250	0.624	B	0.43445	0.42	D	0.95003	0.8145	10	0.72032	D	0.01	.	15.772	0.78176	0.0:1.0:0.0:0.0	.	15	P32019-2	.	K	15	ENSP00000362114:E15K;ENSP00000362117:E15K;ENSP00000362115:E15K;ENSP00000362112:E15K	ENSP00000362112:E15K	E	-	1	0	INPP5B	38184525	0.933000	0.31639	0.504000	0.27639	0.673000	0.39480	3.303000	0.51858	2.528000	0.85240	0.563000	0.77884	GAA	INPP5B	-	NULL	ENSG00000204084		0.612	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	INPP5B	HGNC	protein_coding	OTTHUMT00000012968.1	71	0.00	0	C	NM_005540		38411938	38411938	-1	no_errors	ENST00000373023	ensembl	human	known	69_37n	missense	97	20.49	25	SNP	0.971	T
INPP5J	27124	genome.wustl.edu	37	22	31529471	31529471	+	Splice_Site	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr22:31529471T>C	ENST00000331075.5	+	11	2458		c.e11+2		INPP5J_ENST00000412277.2_Splice_Site|INPP5J_ENST00000404390.3_Splice_Site|INPP5J_ENST00000402238.1_Intron|INPP5J_ENST00000401755.1_Splice_Site|INPP5J_ENST00000404453.1_Splice_Site|INPP5J_ENST00000400294.2_Splice_Site|INPP5J_ENST00000405300.1_Splice_Site	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J						inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						ACCTACCAGGTACTTAAAAGG	0.537																																						dbGAP											0													89.0	86.0	87.0					22																	31529471		1962	4150	6112	-	-	-	SO:0001630	splice_region_variant	0			U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.2409+2T>C	22.37:g.31529471T>C			B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Splice_Site	SNP	-	e11+2	ENST00000331075.5	37	c.2409+2		22	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195227	0.58017	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300;ENST00000404390;ENST00000404453;ENST00000401755	.	.	.	5.85	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8766	0.24151	0.0:0.0765:0.1527:0.7708	.	.	.	.	.	-1	.	.	.	+	.	.	INPP5J	29859471	.	.	0.996000	0.52242	0.947000	0.59692	.	.	1.004000	0.39156	0.533000	0.62120	.	INPP5J	-	-	ENSG00000185133		0.537	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	INPP5J	HGNC	protein_coding	OTTHUMT00000321784.1	245	0.00	0	T	NM_001002837	Intron	31529471	31529471	+1	no_errors	ENST00000331075	ensembl	human	known	69_37n	splice_site	296	15.34	54	SNP	0.997	C
IP6K1	9807	genome.wustl.edu	37	3	49764637	49764637	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:49764637T>C	ENST00000321599.4	-	6	1545	c.1244A>G	c.(1243-1245)cAt>cGt	p.H415R	IP6K1_ENST00000468463.1_3'UTR|IP6K1_ENST00000395238.1_Missense_Mutation_p.H250R|IP6K1_ENST00000460540.1_Missense_Mutation_p.H250R	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	415					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						TGGCCCATCATGCACGGTGGG	0.602																																						dbGAP											0													63.0	60.0	61.0					3																	49764637		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87452	CCDS33760.1, CCDS43092.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000176095	ENSG00000176095			18360	protein-coding gene	gene with protein product		606991	"""inositol hexaphosphate kinase 1"""	IHPK1			Standard	NM_001242829		Approved	KIAA0263	uc003cxm.1	Q92551	OTTHUMG00000158197	ENST00000321599.4:c.1244A>G	3.37:g.49764637T>C	ENSP00000323780:p.His415Arg		A8K157|A8MUX4|Q7L3I7|Q96E38	Missense_Mutation	SNP	pfam_IPK	p.H415R	ENST00000321599.4	37	c.1244	CCDS33760.1	3	.	.	.	.	.	.	.	.	.	.	T	24.1	4.491390	0.84962	.	.	ENSG00000176095	ENST00000321599;ENST00000395238;ENST00000460540	T;T;T	0.16324	2.35;2.35;2.35	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.36663	0.0975	L	0.60012	1.86	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.05194	-1.0900	10	0.19590	T	0.45	-18.7008	15.8902	0.79291	0.0:0.0:0.0:1.0	.	415	Q92551	IP6K1_HUMAN	R	415;250;250	ENSP00000323780:H415R;ENSP00000378659:H250R;ENSP00000420762:H250R	ENSP00000323780:H415R	H	-	2	0	IP6K1	49739641	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	8.040000	0.89188	2.168000	0.68352	0.482000	0.46254	CAT	IP6K1	-	pfam_IPK	ENSG00000176095		0.602	IP6K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K1	HGNC	protein_coding	OTTHUMT00000350380.1	111	0.00	0	T	NM_153273		49764637	49764637	-1	no_errors	ENST00000321599	ensembl	human	known	69_37n	missense	172	12.69	25	SNP	1.000	C
IRX5	10265	genome.wustl.edu	37	16	54966396	54966396	+	Intron	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:54966396C>T	ENST00000394636.4	+	2	586				IRX5_ENST00000558597.1_Missense_Mutation_p.A13V|IRX5_ENST00000320990.5_Intron|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000560154.1_Intron			P78411	IRX5_HUMAN	iroquois homeobox 5						embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CACCTCTCTGCGTCTCCACCG	0.672																																						dbGAP											0													41.0	45.0	44.0					16																	54966396		2198	4300	6498	-	-	-	SO:0001627	intron_variant	0			U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.250-14C>T	16.37:g.54966396C>T			H0YMS7|P78416|Q7Z2E1	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.A13V	ENST00000394636.4	37	c.38	CCDS10751.1	16																																																																																			IRX5	-	NULL	ENSG00000176842		0.672	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IRX5	HGNC	protein_coding	OTTHUMT00000256911.2	21	0.00	0	C			54966396	54966396	+1	no_errors	ENST00000558597	ensembl	human	putative	69_37n	missense	55	14.93	10	SNP	0.000	T
ISG20	3669	genome.wustl.edu	37	15	89198775	89198775	+	3'UTR	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:89198775C>T	ENST00000306072.5	+	0	917				ISG20_ENST00000560746.1_3'UTR|ISG20_ENST00000560741.1_3'UTR	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease gene 20kDa						cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA catabolic process, exonucleolytic (GO:0000738)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	3'-5'-exoribonuclease activity (GO:0000175)|exonuclease activity (GO:0004527)|exoribonuclease II activity (GO:0008859)|metal ion binding (GO:0046872)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|U1 snRNA binding (GO:0030619)|U2 snRNA binding (GO:0030620)|U3 snoRNA binding (GO:0034511)			large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			CCCCATCCAGCCCGTTCCGCA	0.517																																						dbGAP											0													31.0	35.0	34.0					15																	89198775		2200	4299	6499	-	-	-	SO:0001624	3_prime_UTR_variant	0			X89773	CCDS10345.1	15q26	2006-02-22	2002-08-29		ENSG00000172183	ENSG00000172183			6130	protein-coding gene	gene with protein product		604533	"""interferon stimulated gene (20kD)"""			9235947, 9605874	Standard	NM_002201		Approved	HEM45, CD25	uc002bmv.1	Q96AZ6	OTTHUMG00000148679	ENST00000306072.5:c.*13C>T	15.37:g.89198775C>T			O00441|O00586	RNA	SNP	-	NULL	ENST00000306072.5	37	NULL	CCDS10345.1	15																																																																																			ISG20	-	-	ENSG00000172183		0.517	ISG20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISG20	HGNC	protein_coding	OTTHUMT00000309069.2	28	0.00	0	C	NM_002201		89198775	89198775	+1	no_errors	ENST00000560746	ensembl	human	known	69_37n	rna	26	31.58	12	SNP	0.014	T
ITGA4	3676	genome.wustl.edu	37	2	182374492	182374492	+	Silent	SNP	A	A	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:182374492A>C	ENST00000397033.2	+	16	2233	c.1803A>C	c.(1801-1803)ccA>ccC	p.P601P		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	601					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	CACTTCAGCCAATTCTTCAGC	0.358																																						dbGAP											0													92.0	82.0	85.0					2																	182374492		1843	4089	5932	-	-	-	SO:0001819	synonymous_variant	0				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1803A>C	2.37:g.182374492A>C			D3DPG4|Q7Z4L6	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.P601	ENST00000397033.2	37	c.1803	CCDS42788.1	2																																																																																			ITGA4	-	pfam_Integrin_alpha-2	ENSG00000115232		0.358	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	78	0.00	0	A			182374492	182374492	+1	no_errors	ENST00000397033	ensembl	human	known	69_37n	silent	16	20.00	4	SNP	0.995	C
ITGA4	3676	genome.wustl.edu	37	2	182374496	182374496	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:182374496C>T	ENST00000397033.2	+	16	2237	c.1807C>T	c.(1807-1809)Ctt>Ttt	p.L603F		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	603					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TCAGCCAATTCTTCAGCAGAA	0.353																																						dbGAP											0													90.0	81.0	84.0					2																	182374496		1838	4088	5926	-	-	-	SO:0001583	missense	0				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1807C>T	2.37:g.182374496C>T	ENSP00000380227:p.Leu603Phe		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.L603F	ENST00000397033.2	37	c.1807	CCDS42788.1	2	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703621	0.88924	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.70749	-0.51;-0.51	6.02	6.02	0.97574	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	D	0.84786	0.5549	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84831	0.0802	10	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	425;603	Q59H74;P13612	.;ITA4_HUMAN	F	603	ENSP00000380227:L603F;ENSP00000233573:L603F	ENSP00000233573:L603F	L	+	1	0	ITGA4	182082741	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.642000	0.67888	2.857000	0.98124	0.650000	0.86243	CTT	ITGA4	-	pfam_Integrin_alpha-2	ENSG00000115232		0.353	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	68	0.00	0	C			182374496	182374496	+1	no_errors	ENST00000397033	ensembl	human	known	69_37n	missense	12	25.00	4	SNP	1.000	T
ITGA9	3680	genome.wustl.edu	37	3	37584050	37584050	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:37584050T>C	ENST00000264741.5	+	15	1919	c.1663T>C	c.(1663-1665)Tgt>Cgt	p.C555R	ITGA9_ENST00000422441.1_Missense_Mutation_p.C555R	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	555					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GGAGGAGACGTGTCGTCACTA	0.507																																						dbGAP											0													126.0	108.0	114.0					3																	37584050		2203	4300	6503	-	-	-	SO:0001583	missense	0			L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.1663T>C	3.37:g.37584050T>C	ENSP00000264741:p.Cys555Arg		Q14638	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.C555R	ENST00000264741.5	37	c.1663	CCDS2669.1	3	.	.	.	.	.	.	.	.	.	.	T	20.2	3.942115	0.73672	.	.	ENSG00000144668	ENST00000422441;ENST00000264741	D;D	0.97041	-4.22;-4.22	5.79	5.79	0.91817	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	D	0.98314	0.9441	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99501	1.0953	10	0.87932	D	0	.	16.1444	0.81555	0.0:0.0:0.0:1.0	.	555;555	Q13797;E9PDS3	ITA9_HUMAN;.	R	555	ENSP00000397258:C555R;ENSP00000264741:C555R	ENSP00000264741:C555R	C	+	1	0	ITGA9	37559054	1.000000	0.71417	0.908000	0.35775	0.689000	0.40095	6.835000	0.75344	2.223000	0.72356	0.455000	0.32223	TGT	ITGA9	-	pfam_Integrin_alpha-2	ENSG00000144668		0.507	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA9	HGNC	protein_coding	OTTHUMT00000253361.1	249	0.00	0	T	NM_002207		37584050	37584050	+1	no_errors	ENST00000264741	ensembl	human	known	69_37n	missense	131	14.38	22	SNP	1.000	C
ITGAL	3683	genome.wustl.edu	37	16	30484196	30484196	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:30484196T>C	ENST00000356798.6	+	1	218	c.38T>C	c.(37-39)cTg>cCg	p.L13P	ITGAL_ENST00000358164.5_Missense_Mutation_p.L13P|ITGAL_ENST00000433423.2_Missense_Mutation_p.L13P|ITGAL_ENST00000454514.2_Missense_Mutation_p.L13P|Y_RNA_ENST00000410769.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	13					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GCCATGGCGCTGCTGTCTGGG	0.592																																					NSCLC(110;1462 1641 3311 33990 49495)	dbGAP											0													139.0	111.0	121.0					16																	30484196		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.38T>C	16.37:g.30484196T>C	ENSP00000349252:p.Leu13Pro		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.L13P	ENST00000356798.6	37	c.38	CCDS32433.1	16	.	.	.	.	.	.	.	.	.	.	T	17.70	3.455465	0.63401	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000454514;ENST00000433423	D;T;D;T	0.92965	-3.14;0.22;-3.14;0.71	4.76	3.68	0.42216	.	0.545405	0.14107	N	0.341004	D	0.92407	0.7590	M	0.71036	2.16	0.48236	D	0.999619	B;B;D	0.61080	0.137;0.02;0.989	B;B;P	0.52189	0.049;0.012;0.692	D	0.91769	0.5426	10	0.87932	D	0	.	6.557	0.22466	0.0:0.1053:0.0:0.8947	.	13;13;13	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	P	13	ENSP00000349252:L13P;ENSP00000350886:L13P;ENSP00000408615:L13P;ENSP00000409377:L13P	ENSP00000349252:L13P	L	+	2	0	ITGAL	30391697	0.973000	0.33851	0.968000	0.41197	0.036000	0.12997	1.955000	0.40372	2.134000	0.65973	0.460000	0.39030	CTG	ITGAL	-	NULL	ENSG00000005844		0.592	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	HGNC	protein_coding	OTTHUMT00000434508.2	410	0.00	0	T			30484196	30484196	+1	no_errors	ENST00000356798	ensembl	human	known	69_37n	missense	455	11.56	60	SNP	0.937	C
ITIH3	3699	genome.wustl.edu	37	3	52833491	52833491	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:52833491G>A	ENST00000449956.2	+	8	899	c.893G>A	c.(892-894)cGg>cAg	p.R298Q	ITIH3_ENST00000416872.2_Missense_Mutation_p.R298Q|ITIH3_ENST00000465243.2_3'UTR	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	298	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ATGGCTGGTCGGAAATTAGAG	0.502																																						dbGAP											0													45.0	44.0	44.0					3																	52833491		1950	4159	6109	-	-	-	SO:0001583	missense	0				CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.893G>A	3.37:g.52833491G>A	ENSP00000415769:p.Arg298Gln		Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.R298Q	ENST00000449956.2	37	c.893	CCDS46845.1	3	.	.	.	.	.	.	.	.	.	.	G	5.127	0.209074	0.09757	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.77489	-1.1;-1.1	5.54	3.71	0.42584	von Willebrand factor, type A (3);	0.393988	0.29444	N	0.012132	T	0.53400	0.1794	L	0.29908	0.895	0.30232	N	0.795837	P;P	0.38677	0.465;0.642	B;B	0.26416	0.035;0.069	T	0.51934	-0.8642	10	0.09590	T	0.72	-20.8269	5.1755	0.15133	0.2384:0.154:0.6077:0.0	.	298;298	E7ET33;Q06033	.;ITIH3_HUMAN	Q	298;286;293;298;298	ENSP00000413922:R298Q;ENSP00000415769:R298Q	ENSP00000273291:R293Q	R	+	2	0	ITIH3	52808531	0.229000	0.23729	0.995000	0.50966	0.183000	0.23260	0.210000	0.17455	1.570000	0.49709	0.655000	0.94253	CGG	ITIH3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000162267		0.502	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH3	HGNC	protein_coding	OTTHUMT00000352668.2	215	0.00	0	G	NM_002217		52833491	52833491	+1	no_errors	ENST00000449956	ensembl	human	known	69_37n	missense	224	12.50	32	SNP	0.961	A
ITPR1	3708	genome.wustl.edu	37	3	4726851	4726851	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:4726851C>T	ENST00000443694.2	+	27	3618	c.3618C>T	c.(3616-3618)caC>caT	p.H1206H	ITPR1_ENST00000423119.2_Silent_p.H1212H|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Silent_p.H1221H|ITPR1_ENST00000302640.8_Silent_p.H1206H|ITPR1_ENST00000357086.4_Silent_p.H1212H|ITPR1_ENST00000456211.2_Silent_p.H1197H			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1221					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TGGGCGCGCACGCCGTGGTGC	0.577																																						dbGAP											0													34.0	34.0	34.0					3																	4726851		2090	4225	6315	-	-	-	SO:0001819	synonymous_variant	0			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.3618C>T	3.37:g.4726851C>T			E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.H1206	ENST00000443694.2	37	c.3618	CCDS54551.1	3																																																																																			ITPR1	-	pfam_Ca-rel_channel	ENSG00000150995		0.577	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	102	0.00	0	C	NM_002222		4726851	4726851	+1	no_errors	ENST00000302640	ensembl	human	known	69_37n	silent	48	14.29	8	SNP	0.003	T
ITIH4	3700	genome.wustl.edu	37	3	52860575	52860575	+	Silent	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:52860575G>T	ENST00000266041.4	-	5	708	c.612C>A	c.(610-612)acC>acA	p.T204T	ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000406595.1_Silent_p.T204T|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000434759.3_Silent_p.T116T|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000485816.1_Silent_p.T204T|ITIH4_ENST00000346281.5_Silent_p.T204T	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	204					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TATTCTGCCAGGTGGTGAGGG	0.582																																						dbGAP											0													88.0	86.0	86.0					3																	52860575		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.612C>A	3.37:g.52860575G>T			B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.L74M	ENST00000266041.4	37	c.220	CCDS2865.1	3	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.549734	0.00926	.	.	ENSG00000055955	ENST00000441637	.	.	.	5.27	2.21	0.28008	.	.	.	.	.	T	0.22551	0.0544	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.17471	-1.0368	4	.	.	.	-1.0824	2.2021	0.03926	0.101:0.2506:0.3837:0.2646	.	.	.	.	M	74	.	.	L	-	1	2	ITIH4	52835615	0.000000	0.05858	0.013000	0.15412	0.014000	0.08584	0.271000	0.18626	1.195000	0.43115	0.655000	0.94253	CTG	ITIH4	-	NULL	ENSG00000055955		0.582	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITIH4	HGNC	protein_coding	OTTHUMT00000317715.1	200	0.00	0	G	NM_002218		52860575	52860575	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000441637	ensembl	human	novel	69_37n	missense	187	12.96	28	SNP	0.000	T
ITPR3	3710	genome.wustl.edu	37	6	33653962	33653962	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:33653962G>A	ENST00000374316.5	+	43	6860	c.5800G>A	c.(5800-5802)Gtg>Atg	p.V1934M	ITPR3_ENST00000605930.1_Missense_Mutation_p.V1934M			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1934					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TGAGGACAACGTGGGCCTCGT	0.607																																						dbGAP											0													61.0	52.0	55.0					6																	33653962		2203	4300	6503	-	-	-	SO:0001583	missense	0			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.5800G>A	6.37:g.33653962G>A	ENSP00000363435:p.Val1934Met		Q14649|Q5TAQ2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd	p.V1934M	ENST00000374316.5	37	c.5800	CCDS4783.1	6	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927918	0.92389	.	.	ENSG00000096433	ENST00000374316	D	0.95588	-3.75	4.82	4.82	0.62117	RyR/IP3R Homology associated domain (1);	0.000000	0.85682	D	0.000000	D	0.97337	0.9129	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97757	1.0218	10	0.59425	D	0.04	-32.6367	17.5201	0.87784	0.0:0.0:1.0:0.0	.	1934;1604	Q14573;Q59ES2	ITPR3_HUMAN;.	M	1934	ENSP00000363435:V1934M	ENSP00000363435:V1934M	V	+	1	0	ITPR3	33761940	1.000000	0.71417	0.990000	0.47175	0.973000	0.67179	9.869000	0.99810	2.227000	0.72691	0.467000	0.42956	GTG	ITPR3	-	pfam_RIH_assoc-dom,superfamily_ARM-type_fold	ENSG00000096433		0.607	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	83	0.00	0	G	NM_002224		33653962	33653962	+1	no_errors	ENST00000374316	ensembl	human	known	69_37n	missense	126	13.70	20	SNP	1.000	A
JAKMIP1	152789	genome.wustl.edu	37	4	6083470	6083470	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:6083470G>A	ENST00000282924.5	-	6	1452	c.967C>T	c.(967-969)Cga>Tga	p.R323*	JAKMIP1_ENST00000409831.1_Nonsense_Mutation_p.R323*|JAKMIP1_ENST00000409371.3_Nonsense_Mutation_p.R158*|JAKMIP1_ENST00000410077.2_Nonsense_Mutation_p.R158*|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409021.3_Nonsense_Mutation_p.R323*	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	323	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCGGTCTCTCGTGAGCGTTTC	0.542																																						dbGAP											0													93.0	91.0	92.0					4																	6083470		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.967C>T	4.37:g.6083470G>A	ENSP00000282924:p.Arg323*		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Nonsense_Mutation	SNP	NULL	p.R323*	ENST00000282924.5	37	c.967	CCDS3385.1	4	.	.	.	.	.	.	.	.	.	.	G	41	8.998846	0.99031	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000418227;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	.	.	.	4.41	3.55	0.40652	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8482	0.57842	0.0:0.0:0.8357:0.1642	.	.	.	.	X	323;158;323;323;215;323;323;158	.	ENSP00000282924:R323X	R	-	1	2	JAKMIP1	6134371	1.000000	0.71417	0.022000	0.16811	0.890000	0.51754	4.865000	0.62998	0.950000	0.37743	0.555000	0.69702	CGA	JAKMIP1	-	NULL	ENSG00000152969		0.542	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP1	HGNC	protein_coding	OTTHUMT00000246816.2	165	0.00	0	G	NM_144720		6083470	6083470	-1	no_errors	ENST00000409021	ensembl	human	known	69_37n	nonsense	89	29.13	37	SNP	0.962	A
JAKMIP3	282973	genome.wustl.edu	37	10	133962991	133962991	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:133962991T>C	ENST00000298622.4	+	14	2062	c.1924T>C	c.(1924-1926)Tac>Cac	p.Y642H	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	642						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CCTCCAGGTGTACTGCGAGGC	0.692																																						dbGAP											0													67.0	52.0	57.0					10																	133962991		2178	4286	6464	-	-	-	SO:0001583	missense	0			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1924T>C	10.37:g.133962991T>C	ENSP00000298622:p.Tyr642His		A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	NULL	p.Y642H	ENST00000298622.4	37	c.1924	CCDS44494.1	10	.	.	.	.	.	.	.	.	.	.	T	15.40	2.821584	0.50633	.	.	ENSG00000188385	ENST00000298622	T	0.32023	1.47	3.8	3.8	0.43715	.	.	.	.	.	T	0.43700	0.1259	L	0.47716	1.5	0.42409	D	0.992593	D;D	0.76494	0.999;0.998	D;D	0.78314	0.976;0.991	T	0.21895	-1.0232	9	0.16896	T	0.51	.	12.5448	0.56193	0.0:0.0:0.0:1.0	.	79;642	Q5VZ66-2;Q5VZ66	.;JKIP3_HUMAN	H	642	ENSP00000298622:Y642H	ENSP00000298622:Y642H	Y	+	1	0	JAKMIP3	133812981	1.000000	0.71417	0.770000	0.31555	0.712000	0.41017	6.957000	0.76019	1.350000	0.45770	0.241000	0.17934	TAC	JAKMIP3	-	NULL	ENSG00000188385		0.692	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3	38	0.00	0	T	NM_194303		133962991	133962991	+1	no_errors	ENST00000298622	ensembl	human	known	69_37n	missense	64	43.22	51	SNP	1.000	C
KAL1	3730	genome.wustl.edu	37	X	8555971	8555971	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:8555971G>A	ENST00000262648.3	-	5	739	c.590C>T	c.(589-591)tCt>tTt	p.S197F		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	197	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CAGCTGTCCAGACTGCAGTTC	0.423																																						dbGAP											0													78.0	66.0	70.0					X																	8555971		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.590C>T	X.37:g.8555971G>A	ENSP00000262648:p.Ser197Phe		B2RPF8	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_4-disulphide_core	p.S197F	ENST00000262648.3	37	c.590	CCDS14130.1	X	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509100	0.64410	.	.	ENSG00000011201	ENST00000262648	T	0.60672	0.17	4.16	3.27	0.37495	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.189447	0.47852	D	0.000211	T	0.70202	0.3197	L	0.59436	1.845	0.45015	D	0.998031	D	0.69078	0.997	D	0.76071	0.987	T	0.71163	-0.4673	10	0.72032	D	0.01	.	12.2778	0.54747	0.0:0.1681:0.8319:0.0	.	197	P23352	KALM_HUMAN	F	197	ENSP00000262648:S197F	ENSP00000262648:S197F	S	-	2	0	KAL1	8515971	1.000000	0.71417	0.002000	0.10522	0.993000	0.82548	5.259000	0.65485	0.581000	0.29539	0.600000	0.82982	TCT	KAL1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000011201		0.423	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAL1	HGNC	protein_coding	OTTHUMT00000055692.1	169	0.00	0	G	NM_000216		8555971	8555971	-1	no_errors	ENST00000262648	ensembl	human	known	69_37n	missense	18	25.00	6	SNP	0.995	A
KAT5	10524	genome.wustl.edu	37	11	65481120	65481120	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:65481120G>A	ENST00000377046.3	+	6	770	c.498G>A	c.(496-498)ccG>ccA	p.P166P	KAT5_ENST00000530446.1_Silent_p.P147P|KAT5_ENST00000525204.1_3'UTR|KAT5_ENST00000534650.1_5'UTR|KAT5_ENST00000341318.4_Silent_p.P199P|KAT5_ENST00000352980.4_Silent_p.P114P	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	166					androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						AGACAGCCCCGGCCTCGGTTT	0.532																																						dbGAP											0													62.0	63.0	63.0					11																	65481120		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.498G>A	11.37:g.65481120G>A			B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.G162S	ENST00000377046.3	37	c.484	CCDS31610.1	11	.	.	.	.	.	.	.	.	.	.	G	2.936	-0.219911	0.06061	.	.	ENSG00000172977	ENST00000530605	.	.	.	5.28	-9.94	0.00449	.	.	.	.	.	T	0.58836	0.2150	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68364	-0.5428	4	.	.	.	-10.4651	14.6084	0.68498	0.2278:0.1101:0.6621:0.0	.	.	.	.	S	162	.	.	G	+	1	0	KAT5	65237696	0.065000	0.20965	0.420000	0.26596	0.729000	0.41735	-1.095000	0.03356	-1.385000	0.02101	-1.036000	0.02392	GGC	KAT5	-	NULL	ENSG00000172977		0.532	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT5	HGNC	protein_coding	OTTHUMT00000390866.2	38	0.00	0	G	NM_006388		65481120	65481120	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000530605	ensembl	human	novel	69_37n	missense	55	12.70	8	SNP	0.710	A
KBTBD6	89890	genome.wustl.edu	37	13	41704757	41704757	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr13:41704757T>C	ENST00000379485.1	-	1	2125	c.1891A>G	c.(1891-1893)Act>Gct	p.T631A	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T565A	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	631										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TCTTCTTCAGTGAGGAAACTC	0.438																																						dbGAP											0													125.0	114.0	118.0					13																	41704757		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1891A>G	13.37:g.41704757T>C	ENSP00000368799:p.Thr631Ala		Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.T631A	ENST00000379485.1	37	c.1891	CCDS9376.1	13	.	.	.	.	.	.	.	.	.	.	t	6.035	0.374850	0.11409	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.77098	-0.99;-1.07	3.79	2.61	0.31194	.	0.075133	0.51477	D	0.000091	T	0.56485	0.1988	N	0.17082	0.46	0.28083	N	0.932099	B;B	0.31318	0.319;0.214	B;B	0.26416	0.069;0.031	T	0.48514	-0.9029	10	0.33940	T	0.23	.	6.7209	0.23330	0.0:0.1225:0.0:0.8775	.	565;631	F5GZN7;Q86V97	.;KBTB6_HUMAN	A	631;565	ENSP00000368799:T631A;ENSP00000444326:T565A	ENSP00000368799:T631A	T	-	1	0	KBTBD6	40602757	1.000000	0.71417	0.721000	0.30653	0.248000	0.25809	2.703000	0.47110	0.646000	0.30693	0.374000	0.22700	ACT	KBTBD6	-	NULL	ENSG00000165572		0.438	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD6	HGNC	protein_coding	OTTHUMT00000044657.1	245	0.00	0	T	NM_152903		41704757	41704757	-1	no_errors	ENST00000379485	ensembl	human	known	69_37n	missense	272	11.11	34	SNP	0.979	C
KCNA4	3739	genome.wustl.edu	37	11	30033810	30033810	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:30033810C>T	ENST00000328224.6	-	2	1649	c.416G>A	c.(415-417)aGg>aAg	p.R139K	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	139					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	ATAGTAAAACCTTCcctcctc	0.547																																						dbGAP											0													52.0	51.0	52.0					11																	30033810		2193	4295	6488	-	-	-	SO:0001583	missense	0			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.416G>A	11.37:g.30033810C>T	ENSP00000328511:p.Arg139Lys			Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.R139K	ENST00000328224.6	37	c.416	CCDS41629.1	11	.	.	.	.	.	.	.	.	.	.	C	3.210	-0.161802	0.06502	.	.	ENSG00000182255	ENST00000328224	D	0.96491	-4.03	4.66	4.66	0.58398	.	3.080460	0.03229	U	0.178641	D	0.89153	0.6634	N	0.04508	-0.205	0.31392	N	0.677721	B	0.02656	0.0	B	0.01281	0.0	T	0.82218	-0.0566	10	0.08599	T	0.76	.	6.0831	0.19952	0.0:0.7547:0.0:0.2453	.	139	P22459	KCNA4_HUMAN	K	139	ENSP00000328511:R139K	ENSP00000328511:R139K	R	-	2	0	KCNA4	29990386	1.000000	0.71417	0.723000	0.30687	0.476000	0.33039	3.847000	0.55895	2.145000	0.66743	0.561000	0.74099	AGG	KCNA4	-	NULL	ENSG00000182255		0.547	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	HGNC	protein_coding	OTTHUMT00000388074.2	76	0.00	0	C	NM_002233		30033810	30033810	-1	no_errors	ENST00000328224	ensembl	human	known	69_37n	missense	67	12.82	10	SNP	1.000	T
KCNB2	9312	genome.wustl.edu	37	8	73849474	73849474	+	Silent	SNP	C	C	T	rs528752259		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:73849474C>T	ENST00000523207.1	+	3	2472	c.1884C>T	c.(1882-1884)caC>caT	p.H628H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	628					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CCGCCTCTCACTTGCAGATGA	0.587																																						dbGAP											0													71.0	79.0	76.0					8																	73849474		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1884C>T	8.37:g.73849474C>T			Q7Z7D0|Q9BXD3	Silent	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.H628	ENST00000523207.1	37	c.1884	CCDS6209.1	8																																																																																			KCNB2	-	pfam_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv2.2	ENSG00000182674		0.587	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	HGNC	protein_coding	OTTHUMT00000378998.1	37	0.00	0	C	NM_004770		73849474	73849474	+1	no_errors	ENST00000523207	ensembl	human	known	69_37n	silent	18	30.77	8	SNP	0.942	T
KCNF1	3754	genome.wustl.edu	37	2	11052976	11052976	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:11052976G>A	ENST00000295082.1	+	1	914	c.424G>A	c.(424-426)Gcg>Acg	p.A142T		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	142					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GGAGGAGATCGCGCGCCGCGT	0.637																																						dbGAP											0													40.0	47.0	44.0					2																	11052976		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.424G>A	2.37:g.11052976G>A	ENSP00000295082:p.Ala142Thr		O43527|Q585L3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6	p.A142T	ENST00000295082.1	37	c.424	CCDS1676.1	2	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595924	0.46318	.	.	ENSG00000162975	ENST00000295082	D	0.98075	-4.7	5.19	5.19	0.71726	.	1.516020	0.05237	N	0.511459	D	0.98197	0.9404	L	0.53249	1.67	0.80722	D	1	D	0.71674	0.998	P	0.60473	0.875	D	0.92902	0.6340	10	0.14252	T	0.57	.	19.0801	0.93178	0.0:0.0:1.0:0.0	.	142	Q9H3M0	KCNF1_HUMAN	T	142	ENSP00000295082:A142T	ENSP00000295082:A142T	A	+	1	0	KCNF1	10970427	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.981000	0.88123	2.564000	0.86499	0.563000	0.77884	GCG	KCNF1	-	NULL	ENSG00000162975		0.637	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNF1	HGNC	protein_coding	OTTHUMT00000239265.1	49	0.00	0	G	NM_002236		11052976	11052976	+1	no_errors	ENST00000295082	ensembl	human	known	69_37n	missense	62	11.43	8	SNP	1.000	A
KCNG1	3755	genome.wustl.edu	37	20	49626119	49626119	+	Silent	SNP	T	T	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:49626119T>G	ENST00000371571.4	-	2	1042	c.757A>C	c.(757-759)Agg>Cgg	p.R253R	KCNG1_ENST00000396017.3_Silent_p.R253R|KCNG1_ENST00000506387.1_5'Flank|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	253					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TCCTCCTCCCTCAGGCTGGGC	0.662																																						dbGAP											0													39.0	33.0	35.0					20																	49626119		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.757A>C	20.37:g.49626119T>G			A8K3S4|O43528|Q5JXL5|Q9BRC1	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.R253	ENST00000371571.4	37	c.757	CCDS13436.1	20																																																																																			KCNG1	-	NULL	ENSG00000026559		0.662	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNG1	HGNC	protein_coding	OTTHUMT00000079726.4	112	0.00	0	T	NM_002237		49626119	49626119	-1	no_errors	ENST00000371571	ensembl	human	known	69_37n	silent	161	16.15	31	SNP	1.000	G
KCNJ16	3773	genome.wustl.edu	37	17	68129040	68129040	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:68129040delT	ENST00000589377.1	+	2	975	c.812delT	c.(811-813)gtafs	p.V271fs	KCNJ16_ENST00000283936.1_Frame_Shift_Del_p.V271fs|KCNJ16_ENST00000585558.1_Frame_Shift_Del_p.V306fs|KCNJ16_ENST00000586462.1_Frame_Shift_Del_p.V310fs|KCNJ16_ENST00000392671.1_Frame_Shift_Del_p.V271fs|KCNJ16_ENST00000392670.1_Frame_Shift_Del_p.V271fs	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	271					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CGCAAAGCAGTAGCCAAAGAT	0.433																																						dbGAP											0													137.0	134.0	135.0					17																	68129040		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.812delT	17.37:g.68129040delT	ENSP00000465967:p.Val271fs			Frame_Shift_Del	DEL	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir_Cr2	p.V271fs	ENST00000589377.1	37	c.812	CCDS11687.1	17																																																																																			KCNJ16	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000153822		0.433	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ16	HGNC	protein_coding	OTTHUMT00000450880.1	69	0.00	0	T	NM_018658		68129040	68129040	+1	no_errors	ENST00000283936	ensembl	human	known	69_37n	frame_shift_del	6	33.33	3	DEL	1.000	-
KCNU1	157855	genome.wustl.edu	37	8	36703125	36703125	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:36703125A>C	ENST00000399881.3	+	17	1768	c.1731A>C	c.(1729-1731)caA>caC	p.Q577H		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	577					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CACCTCCACAAGTGAGGATAC	0.388																																						dbGAP											0													120.0	113.0	115.0					8																	36703125		1854	4106	5960	-	-	-	SO:0001583	missense	0			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1731A>C	8.37:g.36703125A>C	ENSP00000382770:p.Gln577His			Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2,prints_K_chnl_Ca-activ_BK_asu	p.Q577H	ENST00000399881.3	37	c.1731	CCDS55220.1	8	.	.	.	.	.	.	.	.	.	.	A	0.020	-1.437700	0.01098	.	.	ENSG00000215262	ENST00000399881	T	0.30182	1.54	5.53	1.43	0.22495	.	0.000000	0.36519	U	0.002552	T	0.15478	0.0373	L	0.41710	1.295	0.80722	D	1	B	0.18741	0.03	B	0.17098	0.017	T	0.19353	-1.0308	10	0.02654	T	1	-5.5205	2.1847	0.03883	0.4698:0.0:0.3045:0.2257	.	577	A8MYU2	KCNU1_HUMAN	H	577	ENSP00000382770:Q577H	ENSP00000382770:Q577H	Q	+	3	2	KCNU1	36822283	0.944000	0.32072	0.854000	0.33618	0.061000	0.15899	0.480000	0.22244	0.453000	0.26858	0.533000	0.62120	CAA	KCNU1	-	NULL	ENSG00000215262		0.388	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1	201	0.00	0	A	NM_001031836		36703125	36703125	+1	no_errors	ENST00000399881	ensembl	human	known	69_37n	missense	24	22.58	7	SNP	0.922	C
KDM1B	221656	genome.wustl.edu	37	6	18197353	18197353	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:18197353C>T	ENST00000297792.5	+	9	816	c.639C>T	c.(637-639)tgC>tgT	p.C213C	KDM1B_ENST00000388870.2_Silent_p.C345C|KDM1B_ENST00000397244.1_Silent_p.C213C|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	345					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.C213C(1)		breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GTATTCGATGCGTTCAGGAAG	0.448																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)											147.0	134.0	138.0					6																	18197353		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.639C>T	6.37:g.18197353C>T			A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM	p.A162V	ENST00000297792.5	37	c.485	CCDS34343.1	6	.	.	.	.	.	.	.	.	.	.	C	9.397	1.076943	0.20227	.	.	ENSG00000165097	ENST00000449850	.	.	.	6.08	-12.2	0.00006	.	.	.	.	.	T	0.64951	0.2645	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.80372	-0.1410	4	.	.	.	-16.0932	27.0632	0.99997	0.0:0.0867:0.0:0.9133	.	.	.	.	V	162	.	.	A	+	2	0	KDM1B	18305332	0.306000	0.24490	0.005000	0.12908	0.967000	0.64934	-0.388000	0.07352	-3.452000	0.00160	-0.948000	0.02665	GCG	KDM1B	-	pfam_SWIRM,superfamily_Homeodomain-like,pfscan_SWIRM	ENSG00000165097		0.448	KDM1B-002	KNOWN	basic|CCDS	protein_coding	KDM1B	HGNC	protein_coding	OTTHUMT00000277080.1	274	0.00	0	C	NM_153042		18197353	18197353	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000449850	ensembl	human	known	69_37n	missense	82	13.68	13	SNP	0.159	T
KHSRP	8570	genome.wustl.edu	37	19	6422382	6422382	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:6422382A>C	ENST00000398148.3	-	2	407	c.315T>G	c.(313-315)ttT>ttG	p.F105L		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	105	Gly-rich.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TTTGGCCCCCAAAACCAAAAT	0.478																																					Colon(55;593 1006 2067 9135 22980)	dbGAP											0													131.0	133.0	132.0					19																	6422382		1894	4110	6004	-	-	-	SO:0001583	missense	0			U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.315T>G	19.37:g.6422382A>C	ENSP00000381216:p.Phe105Leu		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1	p.F105L	ENST00000398148.3	37	c.315	CCDS45936.1	19	.	.	.	.	.	.	.	.	.	.	A	12.56	1.975471	0.34848	.	.	ENSG00000088247	ENST00000398148;ENST00000201886;ENST00000424942	T	0.42513	0.97	4.81	2.69	0.31865	.	0.272597	0.42172	N	0.000742	T	0.33381	0.0861	L	0.50333	1.59	0.36563	D	0.872552	B	0.12013	0.005	B	0.16722	0.016	T	0.18555	-1.0333	10	0.39692	T	0.17	.	6.7356	0.23407	0.764:0.1531:0.0829:0.0	.	105	Q92945	FUBP2_HUMAN	L	105;105;61	ENSP00000381216:F105L	ENSP00000201886:F105L	F	-	3	2	KHSRP	6373382	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.571000	0.53841	0.195000	0.20347	-0.316000	0.08728	TTT	KHSRP	-	NULL	ENSG00000088247		0.478	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHSRP	HGNC	protein_coding	OTTHUMT00000453305.1	281	0.00	0	A			6422382	6422382	-1	no_errors	ENST00000398148	ensembl	human	known	69_37n	missense	328	23.96	104	SNP	1.000	C
KIAA0319	9856	genome.wustl.edu	37	6	24559309	24559309	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:24559309A>G	ENST00000378214.3	-	17	3190	c.2666T>C	c.(2665-2667)cTg>cCg	p.L889P	KIAA0319_ENST00000537886.1_Missense_Mutation_p.L889P|KIAA0319_ENST00000535378.1_Missense_Mutation_p.L880P|KIAA0319_ENST00000543707.1_Missense_Mutation_p.L889P|KIAA0319_ENST00000430948.2_Missense_Mutation_p.L844P	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	889					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCGCATGTGCAGATTTCGGGC	0.478																																						dbGAP											0													73.0	64.0	67.0					6																	24559309		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2666T>C	6.37:g.24559309A>G	ENSP00000367459:p.Leu889Pro		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.L889P	ENST00000378214.3	37	c.2666	CCDS34348.1	6	.	.	.	.	.	.	.	.	.	.	A	20.2	3.955718	0.73902	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.37411	1.33;1.22;1.25;1.2;1.2	3.94	3.94	0.45596	.	0.000000	0.64402	D	0.000006	T	0.56156	0.1966	M	0.86740	2.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.66280	-0.5963	10	0.87932	D	0	-10.6681	13.3029	0.60336	1.0:0.0:0.0:0.0	.	889;880;889	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	P	889;880;844;889;889	ENSP00000439700:L889P;ENSP00000442403:L880P;ENSP00000401086:L844P;ENSP00000367459:L889P;ENSP00000437656:L889P	ENSP00000367459:L889P	L	-	2	0	KIAA0319	24667288	1.000000	0.71417	0.955000	0.39395	0.993000	0.82548	7.514000	0.81750	1.773000	0.52216	0.529000	0.55759	CTG	KIAA0319	-	NULL	ENSG00000137261		0.478	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319	HGNC	protein_coding	OTTHUMT00000040009.1	94	0.00	0	A	NM_014809		24559309	24559309	-1	no_errors	ENST00000378214	ensembl	human	known	69_37n	missense	47	17.54	10	SNP	0.999	G
KIAA0825	285600	genome.wustl.edu	37	5	93739282	93739282	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:93739282G>T	ENST00000513200.3	-	15	2951	c.2879C>A	c.(2878-2880)tCa>tAa	p.S960*	KIAA0825_ENST00000427991.2_Nonsense_Mutation_p.S960*	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	960										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						ACTTTTGCATGATTCTTTCCT	0.318																																						dbGAP											0													161.0	128.0	138.0					5																	93739282		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000513200.3:c.2879C>A	5.37:g.93739282G>T	ENSP00000424618:p.Ser960*		O94914|Q6ZNN2	Nonsense_Mutation	SNP	NULL	p.S960*	ENST00000513200.3	37	c.2879		5	.	.	.	.	.	.	.	.	.	.	G	38	7.129348	0.98081	.	.	ENSG00000185261	ENST00000513200;ENST00000427991	.	.	.	5.69	3.58	0.41010	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2828	0.60226	0.1506:0.0:0.8493:0.0	.	.	.	.	X	960	.	ENSP00000400288:S960X	S	-	2	0	KIAA0825	93765038	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	4.157000	0.58144	1.412000	0.46977	0.655000	0.94253	TCA	KIAA0825	-	NULL	ENSG00000185261		0.318	KIAA0825-001	KNOWN	not_organism_supported|basic	protein_coding	KIAA0825	HGNC	protein_coding	OTTHUMT00000254102.5	112	0.00	0	G	NM_173665		93739282	93739282	-1	no_errors	ENST00000427991	ensembl	human	known	69_37n	nonsense	16	23.81	5	SNP	0.996	T
NWD2	57495	genome.wustl.edu	37	4	37435535	37435535	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:37435535delG	ENST00000309447.5	+	5	1447	c.599delG	c.(598-600)tggfs	p.W200fs		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		200										breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						GAGAAGACATGGCAAGAGATA	0.358																																						dbGAP											0													112.0	101.0	104.0					4																	37435535		692	1591	2283	-	-	-	SO:0001589	frameshift_variant	0																														ENST00000309447.5:c.599delG	4.37:g.37435535delG	ENSP00000309501:p.Trp200fs		A8MRU1	Frame_Shift_Del	DEL	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.W200fs	ENST00000309447.5	37	c.599	CCDS47040.1	4																																																																																			KIAA1239	-	NULL	ENSG00000174145		0.358	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1239	HGNC	protein_coding	OTTHUMT00000347551.2	122	0.00	0	G			37435535	37435535	+1	no_errors	ENST00000309447	ensembl	human	known	69_37n	frame_shift_del	15	11.76	2	DEL	1.000	-
KIAA1244	57221	genome.wustl.edu	37	6	138601244	138601244	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:138601244G>A	ENST00000251691.4	+	14	2570	c.2404G>A	c.(2404-2406)Gct>Act	p.A802T		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GCTTGGAGAGGCTGGCTATTG	0.582																																						dbGAP											0													99.0	86.0	90.0					6																	138601244		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2404G>A	6.37:g.138601244G>A	ENSP00000251691:p.Ala802Thr			Missense_Mutation	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7	p.A802T	ENST00000251691.4	37	c.2404	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	G	32	5.185689	0.94885	.	.	ENSG00000112379	ENST00000251691	T	0.20881	2.04	5.86	5.86	0.93980	.	0.153798	0.64402	D	0.000018	T	0.16599	0.0399	M	0.66939	2.045	0.80722	D	1	P	0.48294	0.908	B	0.41860	0.368	T	0.01420	-1.1359	10	0.39692	T	0.17	-22.0674	14.9552	0.71107	0.0:0.0:0.8572:0.1428	.	802	Q5TH69	BIG3_HUMAN	T	802	ENSP00000251691:A802T	ENSP00000251691:A802T	A	+	1	0	KIAA1244	138642937	1.000000	0.71417	0.984000	0.44739	0.993000	0.82548	5.217000	0.65252	2.778000	0.95560	0.655000	0.94253	GCT	KIAA1244	-	superfamily_ARM-type_fold	ENSG00000112379		0.582	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	280	0.00	0	G	NM_020340		138601244	138601244	+1	no_errors	ENST00000251691	ensembl	human	known	69_37n	missense	111	15.79	21	SNP	1.000	A
KIAA1257	57501	genome.wustl.edu	37	3	128690194	128690194	+	Silent	SNP	C	C	T	rs142289280	byFrequency	TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:128690194C>T	ENST00000265068.5	-	8	1271	c.1104G>A	c.(1102-1104)acG>acA	p.T368T	KIAA1257_ENST00000515659.1_Silent_p.T256T|KIAA1257_ENST00000511438.1_Silent_p.T368T|RP11-723O4.6_ENST00000508239.1_5'Flank	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	368										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GGCCTGTCAGCGTGGGGTCTG	0.557													C|||	3	0.000599042	0.0	0.0	5008	,	,		17899	0.003		0.0	False		,,,				2504	0.0					dbGAP											0													86.0	99.0	95.0					3																	128690194		2127	4241	6368	-	-	-	SO:0001819	synonymous_variant	0			AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.1104G>A	3.37:g.128690194C>T			Q8IXY7|Q8N5T4	Silent	SNP	NULL	p.T368	ENST00000265068.5	37	c.1104	CCDS46905.1	3																																																																																			KIAA1257	-	NULL	ENSG00000114656		0.557	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	KIAA1257	HGNC	protein_coding	OTTHUMT00000358430.1	320	0.00	0	C	NM_020741		128690194	128690194	-1	no_errors	ENST00000265068	ensembl	human	known	69_37n	silent	186	20.85	49	SNP	0.000	T
KIAA1279	26128	genome.wustl.edu	37	10	70764842	70764842	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:70764842C>T	ENST00000361983.4	+	3	668	c.566C>T	c.(565-567)cCt>cTt	p.P189L		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	189					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						CGTTTTCTTCCTGAAGAAGAG	0.368																																						dbGAP											0													112.0	107.0	109.0					10																	70764842		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.566C>T	10.37:g.70764842C>T	ENSP00000354848:p.Pro189Leu		A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Missense_Mutation	SNP	pfam_KBP	p.P189L	ENST00000361983.4	37	c.566	CCDS7284.1	10	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843423	0.71488	.	.	ENSG00000198954	ENST00000361983	T	0.47528	0.84	5.79	5.79	0.91817	.	0.331114	0.37530	N	0.002053	T	0.43233	0.1238	L	0.42245	1.32	0.80722	D	1	P	0.38922	0.651	B	0.33392	0.163	T	0.44892	-0.9298	10	0.62326	D	0.03	-0.4876	19.6143	0.95626	0.0:1.0:0.0:0.0	.	189	Q96EK5	KBP_HUMAN	L	189	ENSP00000354848:P189L	ENSP00000354848:P189L	P	+	2	0	KIAA1279	70434848	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.107000	0.71517	2.722000	0.93159	0.591000	0.81541	CCT	KIAA1279	-	NULL	ENSG00000198954		0.368	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1279	HGNC	protein_coding	OTTHUMT00000048370.1	148	0.00	0	C	NM_015634		70764842	70764842	+1	no_errors	ENST00000361983	ensembl	human	known	69_37n	missense	89	14.29	15	SNP	1.000	T
KIAA1468	57614	genome.wustl.edu	37	18	59925791	59925791	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr18:59925791delT	ENST00000398130.2	+	15	2316	c.2084delT	c.(2083-2085)gtafs	p.V696fs	KIAA1468_ENST00000256858.6_Frame_Shift_Del_p.V696fs	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	696										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TCAGAAAGAGTAGTTAGTGCT	0.368																																						dbGAP											0													106.0	102.0	103.0					18																	59925791		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.2084delT	18.37:g.59925791delT	ENSP00000381198:p.Val696fs			Frame_Shift_Del	DEL	pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation	p.V695fs	ENST00000398130.2	37	c.2084	CCDS11979.2	18																																																																																			KIAA1468	-	superfamily_ARM-type_fold	ENSG00000134444		0.368	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1468	HGNC	protein_coding	OTTHUMT00000256187.1	73	0.00	0	T	NM_020854		59925791	59925791	+1	no_errors	ENST00000256858	ensembl	human	known	69_37n	frame_shift_del	12	20.00	3	DEL	1.000	-
KIF26A	26153	genome.wustl.edu	37	14	104638170	104638170	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:104638170C>T	ENST00000423312.2	+	6	1224	c.1224C>T	c.(1222-1224)ccC>ccT	p.P408P	KIF26A_ENST00000315264.7_Silent_p.P269P	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	408	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TCTACGATCCCGCCGCCGGTC	0.687																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.1224C>T	14.37:g.104638170C>T			Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P408	ENST00000423312.2	37	c.1224	CCDS45171.1	14																																																																																			KIF26A	-	smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000066735		0.687	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIF26A	HGNC	protein_coding	OTTHUMT00000414356.1	28	0.00	0	C			104638170	104638170	+1	no_errors	ENST00000423312	ensembl	human	known	69_37n	silent	25	41.86	18	SNP	0.002	T
KIF4A	24137	genome.wustl.edu	37	X	69510176	69510176	+	Intron	SNP	A	A	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:69510176A>T	ENST00000374403.3	+	2	61				PDZD11_ENST00000473667.1_5'Flank|KIF4A_ENST00000374388.3_Intron|PDZD11_ENST00000239666.4_5'Flank|KIF4A_ENST00000485406.1_3'UTR|PDZD11_ENST00000374454.1_5'Flank	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A						anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						ATGGAGCGTGAATCTCCCAAG	0.577																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.-21-112A>T	X.37:g.69510176A>T			B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	RNA	SNP	-	NULL	ENST00000374403.3	37	NULL	CCDS14401.1	X																																																																																			KIF4A	-	-	ENSG00000090889		0.577	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	HGNC	protein_coding	OTTHUMT00000057068.1	28	0.00	0	A	NM_012310		69510176	69510176	+1	no_errors	ENST00000485406	ensembl	human	known	69_37n	rna	45	19.64	11	SNP	0.049	T
KIFC1	3833	genome.wustl.edu	37	6	33372652	33372652	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:33372652A>G	ENST00000428849.2	+	7	1230	c.780A>G	c.(778-780)gcA>gcG	p.A260A		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	260					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CATCAGAAGCAGCCCTGTCAA	0.552																																						dbGAP											0													47.0	51.0	49.0					6																	33372652		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.780A>G	6.37:g.33372652A>G			O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A260	ENST00000428849.2	37	c.780	CCDS34430.1	6																																																																																			KIFC1	-	NULL	ENSG00000237649		0.552	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC1	HGNC	protein_coding	OTTHUMT00000076417.1	33	0.00	0	A	NM_002263		33372652	33372652	+1	no_errors	ENST00000428849	ensembl	human	known	69_37n	silent	52	10.34	6	SNP	0.966	G
KIR3DX1	90011	genome.wustl.edu	37	19	55048160	55048160	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:55048160T>C	ENST00000335056.3	+	5	765	c.727T>C	c.(727-729)Ttc>Ctc	p.F243L	KIR3DX1_ENST00000482404.1_3'UTR			Q9H7L2	KI3X1_HUMAN	killer cell immunoglobulin-like receptor, three domains, X1	243	Ig-like C2-type 2.					extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GTTGACCCTCTTCTGCAGCTC	0.498											OREG0003665	type=REGULATORY REGION|Gene=BC033195|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938)	dbGAP											0													72.0	73.0	73.0					19																	55048160		1930	4147	6077	-	-	-	SO:0001583	missense	0			BC033195		19q13.42	2013-03-26	2006-09-12	2006-09-12	ENSG00000104970	ENSG00000104970		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	25043	other	unknown			"""leukocyte receptor cluster (LRC) member 12"""	LENG12		11441184	Standard	NR_026716		Approved	FLJ00060	uc010erm.2	Q9H7L2	OTTHUMG00000065696	ENST00000335056.3:c.727T>C	19.37:g.55048160T>C	ENSP00000335388:p.Phe243Leu	1004	B7WNL0|Q8N0S4	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like	p.F243L	ENST00000335056.3	37	c.727		19	.	.	.	.	.	.	.	.	.	.	T	2.021	-0.424766	0.04734	.	.	ENSG00000104970	ENST00000335056	T	0.02709	4.19	1.9	-3.51	0.04696	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03390	0.0098	.	.	.	0.09310	N	1	B	0.34241	0.444	B	0.42959	0.403	T	0.42832	-0.9428	8	0.87932	D	0	.	2.2065	0.03937	0.2346:0.351:0.0:0.4143	.	243	Q9H7L2	KI3X1_HUMAN	L	243	ENSP00000335388:F243L	ENSP00000221567:F243L	F	+	1	0	KIR3DX1	59739972	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.394000	0.02518	-0.751000	0.04734	0.528000	0.53228	TTC	KIR3DX1	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000104970		0.498	KIR3DX1-002	KNOWN	basic|appris_principal	protein_coding	KIR3DX1	HGNC	protein_coding	OTTHUMT00000140800.2	111	0.00	0	T	NR_026716		55048160	55048160	+1	no_errors	ENST00000335056	ensembl	human	known	69_37n	missense	46	13.21	7	SNP	0.000	C
KIRREL	55243	genome.wustl.edu	37	1	158064133	158064133	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:158064133G>A	ENST00000359209.6	+	14	1817	c.1750G>A	c.(1750-1752)Gac>Aac	p.D584N	KIRREL_ENST00000360089.4_Missense_Mutation_p.D420N|KIRREL_ENST00000368172.1_Missense_Mutation_p.D398N|KIRREL_ENST00000416935.2_Missense_Mutation_p.D484N|KIRREL_ENST00000392272.2_Missense_Mutation_p.D481N|KIRREL_ENST00000368173.3_Missense_Mutation_p.D600N			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	584					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TCTGAAGCAGGACCTGCGCTG	0.612																																						dbGAP											0													52.0	46.0	48.0					1																	158064133		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1750G>A	1.37:g.158064133G>A	ENSP00000352138:p.Asp584Asn		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	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.D600N	ENST00000359209.6	37	c.1798	CCDS1172.2	1	.	.	.	.	.	.	.	.	.	.	G	34	5.291634	0.95546	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.70516	0.45;-0.49;0.12;-0.08;-0.05;0.31	5.25	5.25	0.73442	.	0.000000	0.42821	D	0.000659	T	0.63873	0.2548	L	0.29908	0.895	0.58432	D	0.999998	D;D;D;D	0.71674	0.996;0.998;0.998;0.998	P;P;P;P	0.57425	0.802;0.82;0.82;0.82	T	0.62291	-0.6885	10	0.28530	T	0.3	-39.0181	16.3162	0.82928	0.0:0.0:1.0:0.0	.	484;420;398;584	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	N	420;600;481;584;484;398	ENSP00000353202:D420N;ENSP00000357155:D600N;ENSP00000376098:D481N;ENSP00000352138:D584N;ENSP00000389674:D484N;ENSP00000357154:D398N	ENSP00000352138:D584N	D	+	1	0	KIRREL	156330757	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.638000	0.91019	2.426000	0.82243	0.561000	0.74099	GAC	KIRREL	-	NULL	ENSG00000183853		0.612	KIRREL-001	KNOWN	basic|CCDS	protein_coding	KIRREL	HGNC	protein_coding	OTTHUMT00000058342.3	204	0.00	0	G	NM_018240		158064133	158064133	+1	no_errors	ENST00000368173	ensembl	human	known	69_37n	missense	278	10.58	33	SNP	1.000	A
KIRREL2	84063	genome.wustl.edu	37	19	36357320	36357320	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:36357320G>C	ENST00000360202.5	+	15	2251	c.2053G>C	c.(2053-2055)Gcc>Ccc	p.A685P	KIRREL2_ENST00000262625.7_Intron|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.A650P|APLP1_ENST00000537454.2_5'Flank|APLP1_ENST00000221891.4_5'Flank|KIRREL2_ENST00000347900.6_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	685	Pro-rich.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCAGATCTGGCCCCCGGGAC	0.597																																						dbGAP											0													96.0	106.0	102.0					19																	36357320		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.2053G>C	19.37:g.36357320G>C	ENSP00000353331:p.Ala685Pro		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A685P	ENST00000360202.5	37	c.2053	CCDS12481.1	19	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881358	0.33255	.	.	ENSG00000126259	ENST00000360202;ENST00000341658;ENST00000270294	T	0.66638	-0.22	5.1	1.81	0.25067	.	1.413010	0.04772	N	0.428175	T	0.49270	0.1547	N	0.14661	0.345	0.26127	N	0.980477	P;P;P	0.40875	0.612;0.731;0.612	B;B;B	0.38616	0.143;0.277;0.143	T	0.40251	-0.9573	9	.	.	.	-0.0082	6.9748	0.24669	0.277:0.0:0.723:0.0	.	685;665;685	F1T0I2;Q6UWL6-4;Q6UWL6	.;.;KIRR2_HUMAN	P	685;665;196	ENSP00000353331:A685P	.	A	+	1	0	KIRREL2	41049160	0.952000	0.32445	0.018000	0.16275	0.868000	0.49771	1.064000	0.30579	0.169000	0.19679	0.561000	0.74099	GCC	KIRREL2	-	NULL	ENSG00000126259		0.597	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIRREL2	HGNC	protein_coding	OTTHUMT00000452561.1	89	0.00	0	G	NM_032123		36357320	36357320	+1	no_errors	ENST00000360202	ensembl	human	known	69_37n	missense	180	11.71	24	SNP	0.458	C
KIT	3815	genome.wustl.edu	37	4	55565802	55565803	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:55565802_55565803insT	ENST00000288135.5	+	4	723_724	c.626_627insT	c.(625-630)aaagctfs	p.KA209fs		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	209					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTAGCCTTCAAAGCTGTGCCTG	0.381		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													dbGAP	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	Exception_encountered	4.37:g.55565802_55565803insT	ENSP00000288135:p.Lys209fs		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Frame_Shift_Ins	INS	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.K209fs	ENST00000288135.5	37	c.626_627	CCDS3496.1	4																																																																																			KIT	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	ENSG00000157404		0.381	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	HGNC	protein_coding	OTTHUMT00000250618.1	178	0.00	0	-			55565802	55565803	+1	no_errors	ENST00000288135	ensembl	human	known	69_37n	frame_shift_ins	36	10.00	4	INS	0.514:0.209	T
KLC1	3831	genome.wustl.edu	37	14	104136570	104136570	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:104136570T>C	ENST00000348520.6	+	7	1256	c.937T>C	c.(937-939)Tac>Cac	p.Y313H	KLC1_ENST00000389744.4_Missense_Mutation_p.Y313H|KLC1_ENST00000555836.1_Missense_Mutation_p.Y313H|KLC1_ENST00000452929.2_Missense_Mutation_p.Y313H|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.Y485H|KLC1_ENST00000380038.3_Missense_Mutation_p.Y313H|KLC1_ENST00000557450.1_Missense_Mutation_p.Y313H|KLC1_ENST00000553286.1_Missense_Mutation_p.Y313H|KLC1_ENST00000246489.7_Missense_Mutation_p.Y313H|KLC1_ENST00000347839.6_Missense_Mutation_p.Y313H|KLC1_ENST00000554280.1_Missense_Mutation_p.Y313H|KLC1_ENST00000334553.6_Missense_Mutation_p.Y313H|KLC1_ENST00000557575.1_Missense_Mutation_p.Y313H|KLC1_ENST00000445352.4_Missense_Mutation_p.Y311H	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	313					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				AAGAGGGAAGTACAAAGAAGC	0.408																																						dbGAP											0													119.0	127.0	124.0					14																	104136570		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.937T>C	14.37:g.104136570T>C	ENSP00000341154:p.Tyr313His		A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.Y313H	ENST00000348520.6	37	c.937	CCDS41996.1	14	.	.	.	.	.	.	.	.	.	.	T	29.8	5.037072	0.93630	.	.	ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61;-3.61;-3.61;-3.61;-3.61;-3.61;-3.61;-3.61;-3.61;-3.61;-3.61	5.44	5.44	0.79542	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.056186	0.64402	D	0.000001	D	0.97052	0.9037	M	0.82132	2.575	0.80722	D	1	P;D;B;D;B	0.65815	0.955;0.995;0.41;0.978;0.036	P;D;P;P;B	0.71184	0.777;0.972;0.484;0.893;0.185	D	0.97373	0.9977	10	0.56958	D	0.05	-13.5507	15.7952	0.78404	0.0:0.0:0.0:1.0	.	313;313;485;313;311	F8VTM4;F8W6L3;E7EVH7;Q07866;G5E9S8	.;.;.;KLC1_HUMAN;.	H	313;313;313;313;313;313;313;313;313;313;313;313;313;311;485	ENSP00000341154:Y313H;ENSP00000369377:Y313H;ENSP00000374394:Y313H;ENSP00000450617:Y313H;ENSP00000452487:Y313H;ENSP00000334618:Y313H;ENSP00000452481:Y313H;ENSP00000334523:Y313H;ENSP00000246489:Y313H;ENSP00000450648:Y313H;ENSP00000451242:Y313H;ENSP00000414982:Y313H;ENSP00000412693:Y311H;ENSP00000439065:Y485H	ENSP00000246489:Y313H	Y	+	1	0	KLC1;RP11-73M18.2	103206323	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.956000	0.87863	2.186000	0.69663	0.477000	0.44152	TAC	KLC1	-	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000126214		0.408	KLC1-001	KNOWN	basic|CCDS	protein_coding	KLC1	HGNC	protein_coding	OTTHUMT00000402947.2	132	0.00	0	T	NM_005552		104136570	104136570	+1	no_errors	ENST00000334553	ensembl	human	known	69_37n	missense	151	17.03	31	SNP	1.000	C
KLF15	28999	genome.wustl.edu	37	3	126071369	126071369	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:126071369C>T	ENST00000296233.3	-	2	627	c.397G>A	c.(397-399)Gtc>Atc	p.V133I	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	133					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		GGCCGTGGGACGTCATCAGGA	0.622																																						dbGAP											0													37.0	39.0	38.0					3																	126071369		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.397G>A	3.37:g.126071369C>T	ENSP00000296233:p.Val133Ile			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V133I	ENST00000296233.3	37	c.397	CCDS3036.1	3	.	.	.	.	.	.	.	.	.	.	C	1.139	-0.649978	0.03506	.	.	ENSG00000163884	ENST00000296233	T	0.07327	3.2	4.45	2.64	0.31445	.	0.803185	0.11583	N	0.549505	T	0.08403	0.0209	L	0.51422	1.61	0.09310	N	1	B	0.24368	0.102	B	0.17722	0.019	T	0.32640	-0.9899	10	0.32370	T	0.25	.	6.9792	0.24694	0.0:0.7014:0.0:0.2986	.	133	Q9UIH9	KLF15_HUMAN	I	133	ENSP00000296233:V133I	ENSP00000296233:V133I	V	-	1	0	KLF15	127554059	0.232000	0.23762	0.020000	0.16555	0.081000	0.17604	2.068000	0.41471	0.578000	0.29487	-0.216000	0.12614	GTC	KLF15	-	NULL	ENSG00000163884		0.622	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF15	HGNC	protein_coding	OTTHUMT00000370096.1	37	0.00	0	C	NM_014079		126071369	126071369	-1	no_errors	ENST00000296233	ensembl	human	known	69_37n	missense	53	14.52	9	SNP	0.001	T
KRBA2	124751	genome.wustl.edu	37	17	8273418	8273418	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:8273418C>A	ENST00000331336.2	-	2	518	c.513G>T	c.(511-513)gaG>gaT	p.E171D	RP11-849F2.7_ENST00000582471.1_3'UTR|KRBA2_ENST00000396267.1_Missense_Mutation_p.E89D|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	171					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						CTATCAGTTTCTCTGTGCCCT	0.383																																						dbGAP											0													232.0	212.0	218.0					17																	8273418		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"""-"""	26989	protein-coding gene	gene with protein product			"""KRAB A domain containing 2"""			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.513G>T	17.37:g.8273418C>A	ENSP00000328017:p.Glu171Asp		Q8IYY0	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_RNaseH-like_dom,superfamily_Krueppel-associated_box,pfscan_Integrase_cat-core	p.E171D	ENST00000331336.2	37	c.513	CCDS11141.1	17	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416563	0.42918	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	T;T	0.25414	1.81;1.8	2.4	1.42	0.22433	.	.	.	.	.	T	0.16085	0.0387	L	0.47716	1.5	0.22511	N	0.999031	P	0.36144	0.539	B	0.31547	0.132	T	0.17289	-1.0374	9	0.12430	T	0.62	.	5.1116	0.14811	0.0:0.8326:0.0:0.1674	.	171	Q6ZNG9	KRBA2_HUMAN	D	89;171	ENSP00000379565:E89D;ENSP00000328017:E171D	ENSP00000328017:E171D	E	-	3	2	KRBA2	8214143	0.988000	0.35896	0.966000	0.40874	0.850000	0.48378	0.372000	0.20467	0.599000	0.29845	0.550000	0.68814	GAG	KRBA2	-	NULL	ENSG00000184619		0.383	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRBA2	HGNC	protein_coding	OTTHUMT00000256338.1	206	0.00	0	C	NM_213597		8273418	8273418	-1	no_errors	ENST00000331336	ensembl	human	known	69_37n	missense	173	27.31	65	SNP	0.978	A
KRT31	3881	genome.wustl.edu	37	17	39553614	39553614	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:39553614T>C	ENST00000251645.2	-	1	230	c.178A>G	c.(178-180)Atg>Gtg	p.M60V		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	60	Coil 1A.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				AGGAACTGCATAGTCTCCTTC	0.617																																						dbGAP											0													92.0	91.0	91.0					17																	39553614		2203	4300	6503	-	-	-	SO:0001583	missense	0			X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.178A>G	17.37:g.39553614T>C	ENSP00000251645:p.Met60Val		Q9UE12	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.M60V	ENST00000251645.2	37	c.178	CCDS11391.1	17	.	.	.	.	.	.	.	.	.	.	t	19.37	3.814881	0.70912	.	.	ENSG00000094796	ENST00000251645	D	0.90620	-2.7	5.87	5.87	0.94306	Filament (1);	0.000000	0.85682	D	0.000000	D	0.96278	0.8786	M	0.91872	3.25	0.39702	D	0.971203	D	0.76494	0.999	D	0.87578	0.998	D	0.97662	1.0161	10	0.87932	D	0	.	15.5163	0.75828	0.0:0.0:0.0:1.0	.	60	Q15323	K1H1_HUMAN	V	60	ENSP00000251645:M60V	ENSP00000251645:M60V	M	-	1	0	KRT31	36807140	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.003000	0.63959	2.262000	0.75019	0.529000	0.55759	ATG	KRT31	-	pfam_F	ENSG00000094796		0.617	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT31	HGNC	protein_coding	OTTHUMT00000257286.1	166	0.00	0	T	NM_002277		39553614	39553614	-1	no_errors	ENST00000251645	ensembl	human	known	69_37n	missense	191	15.72	36	SNP	1.000	C
KRT81	3887	genome.wustl.edu	37	12	52680929	52680929	+	Missense_Mutation	SNP	C	C	T	rs56821304	byFrequency	TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:52680929C>T	ENST00000327741.5	-	7	1272	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	402	Coil 2.|Rod.		E -> K (in MNLIX; dbSNP:rs56821304). {ECO:0000269|PubMed:9665406}.			extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GTGGCGATCTCGATGTCCAGG	0.647																																						dbGAP											0			GRCh37	CM981149	KRT81	M	rs56821304						58.0	58.0	58.0					12																	52680929		2203	4297	6500	-	-	-	SO:0001583	missense	0			X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.1204G>A	12.37:g.52680929C>T	ENSP00000369349:p.Glu402Lys		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.E402K	ENST00000327741.5	37	c.1204	CCDS31805.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.512605	0.96402	.	.	ENSG00000205426	ENST00000327741;ENST00000389388	D	0.96774	-4.12	5.32	5.32	0.75619	Filament (1);	0.000000	0.42172	U	0.000741	D	0.98607	0.9534	M	0.92604	3.325	0.54753	D	0.999983	D	0.89917	1.0	D	0.80764	0.994	D	0.99640	1.0988	10	0.87932	D	0	.	18.9875	0.92777	0.0:1.0:0.0:0.0	rs56821304	402	Q14533	KRT81_HUMAN	K	402	ENSP00000369349:E402K	ENSP00000369349:E402K	E	-	1	0	KRT81	50967196	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.797000	0.85911	2.479000	0.83701	0.561000	0.74099	GAG	KRT81	-	pfam_F	ENSG00000205426		0.647	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT81	HGNC	protein_coding	OTTHUMT00000395128.2	144	0.00	0	C	NM_002281		52680929	52680929	-1	no_errors	ENST00000327741	ensembl	human	known	69_37n	missense	187	14.93	33	SNP	1.000	T
KRT71	112802	genome.wustl.edu	37	12	52938505	52938505	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:52938505G>A	ENST00000267119.5	-	9	1452	c.1383C>T	c.(1381-1383)ggC>ggT	p.G461G		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	461	Tail.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		AGACACTGCCGCCACTGGTGC	0.637																																						dbGAP											0													18.0	16.0	17.0					12																	52938505		2164	4238	6402	-	-	-	SO:0001819	synonymous_variant	0			AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.1383C>T	12.37:g.52938505G>A			B3KVC1|Q3SY85|Q96DU2	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.G461	ENST00000267119.5	37	c.1383	CCDS8831.1	12																																																																																			KRT71	-	NULL	ENSG00000139648		0.637	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT71	HGNC	protein_coding	OTTHUMT00000396487.1	97	0.00	0	G	NM_033448		52938505	52938505	-1	no_errors	ENST00000267119	ensembl	human	known	69_37n	silent	105	10.92	13	SNP	0.160	A
LAMA3	3909	genome.wustl.edu	37	18	21427492	21427492	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr18:21427492G>A	ENST00000313654.9	+	32	4237	c.3996G>A	c.(3994-3996)acG>acA	p.T1332T	LAMA3_ENST00000399516.3_Silent_p.T1332T	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1332	Domain III B.|Laminin EGF-like 10. {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)					CTCCCCGCACGGTCAGGCCCC	0.622																																						dbGAP											0													38.0	42.0	40.0					18																	21427492		2077	4189	6266	-	-	-	SO:0001819	synonymous_variant	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.3996G>A	18.37:g.21427492G>A			B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	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.T1332	ENST00000313654.9	37	c.3996	CCDS42419.1	18																																																																																			LAMA3	-	smart_EGF_laminin	ENSG00000053747		0.622	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	94	0.00	0	G	NM_000227, NM_198129		21427492	21427492	+1	no_errors	ENST00000313654	ensembl	human	known	69_37n	silent	97	10.19	11	SNP	0.006	A
LAMA4	3910	genome.wustl.edu	37	6	112430672	112430672	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:112430672C>T	ENST00000230538.7	-	39	5837	c.5440G>A	c.(5440-5442)Gcc>Acc	p.A1814T	LAMA4_ENST00000424408.2_Missense_Mutation_p.A1807T|LAMA4_ENST00000389463.4_Missense_Mutation_p.A1807T|LAMA4_ENST00000522006.1_Missense_Mutation_p.A1807T	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1814	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ATGCTTACGGCGCCGCTGACC	0.537																																						dbGAP											0													78.0	73.0	74.0					6																	112430672		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.5440G>A	6.37:g.112430672C>T	ENSP00000230538:p.Ala1814Thr		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EGF-like,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.A1814T	ENST00000230538.7	37	c.5440	CCDS43491.1	6	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664220	0.88251	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	6.17	6.17	0.99709	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.053343	0.64402	D	0.000001	T	0.81297	0.4793	L	0.37850	1.14	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.64506	0.846;0.926	T	0.81508	-0.0901	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1814;1807	Q16363;Q16363-2	LAMA4_HUMAN;.	T	1814;1807;1807;1807	ENSP00000230538:A1814T;ENSP00000429488:A1807T;ENSP00000374114:A1807T;ENSP00000416470:A1807T	ENSP00000230538:A1814T	A	-	1	0	LAMA4	112537365	1.000000	0.71417	0.364000	0.25888	0.880000	0.50808	5.038000	0.64177	2.941000	0.99782	0.655000	0.94253	GCC	LAMA4	-	superfamily_ConA-like_lec_gl,pfscan_Laminin_G	ENSG00000112769		0.537	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2	131	0.00	0	C	NM_001105206		112430672	112430672	-1	no_errors	ENST00000230538	ensembl	human	known	69_37n	missense	25	16.67	5	SNP	0.988	T
LAMB2	3913	genome.wustl.edu	37	3	49160243	49160243	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:49160243C>T	ENST00000418109.1	-	28	4631	c.4467G>A	c.(4465-4467)caG>caA	p.Q1489Q	LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000453664.1_5'Flank|USP19_ENST00000488993.1_5'Flank|LAMB2_ENST00000305544.4_Silent_p.Q1489Q|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398892.3_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1489	Domain I.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTGGGCCCGCTGCTGTGCCT	0.612																																						dbGAP											0													88.0	85.0	86.0					3																	49160243		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4467G>A	3.37:g.49160243C>T			Q16321	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.Q1489	ENST00000418109.1	37	c.4467	CCDS2789.1	3																																																																																			LAMB2	-	NULL	ENSG00000172037		0.612	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	143	0.00	0	C	NM_002292		49160243	49160243	-1	no_errors	ENST00000305544	ensembl	human	known	69_37n	silent	200	16.18	39	SNP	1.000	T
LAMP3	27074	genome.wustl.edu	37	3	182871645	182871645	+	Missense_Mutation	SNP	G	G	A	rs570150710		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:182871645G>A	ENST00000265598.3	-	2	839	c.584C>T	c.(583-585)aCg>aTg	p.T195M	LAMP3_ENST00000466939.1_Missense_Mutation_p.T171M	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	195	Thr-rich.				cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GGCAGCTGCCGTTGTTCCTGG	0.567													g|||	1	0.000199681	0.0	0.0	5008	,	,		16662	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													196.0	189.0	192.0					3																	182871645		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.584C>T	3.37:g.182871645G>A	ENSP00000265598:p.Thr195Met		D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop	p.T195M	ENST00000265598.3	37	c.584	CCDS3242.1	3	.	.	.	.	.	.	.	.	.	.	g	16.12	3.033309	0.54896	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	T;T	0.34472	1.36;1.36	5.81	2.0	0.26442	.	0.870779	0.09896	N	0.741776	T	0.37156	0.0993	M	0.67953	2.075	0.09310	N	1	B	0.20988	0.05	B	0.20384	0.029	T	0.37888	-0.9686	10	0.87932	D	0	0.0196	8.5927	0.33697	0.3165:0.0:0.6835:0.0	.	195	Q9UQV4	LAMP3_HUMAN	M	195;171	ENSP00000265598:T195M;ENSP00000418912:T171M	ENSP00000265598:T195M	T	-	2	0	LAMP3	184354339	0.007000	0.16637	0.000000	0.03702	0.002000	0.02628	1.629000	0.37071	0.373000	0.24621	-0.122000	0.15005	ACG	LAMP3	-	pfam_Lysosome-assoc_membr_glycop	ENSG00000078081		0.567	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMP3	HGNC	protein_coding	OTTHUMT00000350863.1	526	0.00	0	G			182871645	182871645	-1	no_errors	ENST00000265598	ensembl	human	known	69_37n	missense	399	10.86	49	SNP	0.000	A
LANCL2	55915	genome.wustl.edu	37	7	55468927	55468927	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:55468927C>T	ENST00000254770.2	+	5	1317	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	247					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			AAAAACGGAGCGCTGCCCGCT	0.433																																						dbGAP											0													134.0	137.0	136.0					7																	55468927		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"""testis-specific adriamycin sensitivity protein"", ""G protein-coupled receptor 69B"""	612919	"""LanC (bacterial lantibiotic synthetase component C)-like 2"""	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.739C>T	7.37:g.55468927C>T	ENSP00000254770:p.Arg247Cys		B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like	p.R247C	ENST00000254770.2	37	c.739	CCDS5517.1	7	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620659	0.87460	.	.	ENSG00000132434	ENST00000254770	T	0.43688	0.94	6.02	5.15	0.70609	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.61286	0.2335	M	0.76328	2.33	0.80722	D	1	D	0.76494	0.999	P	0.61658	0.892	T	0.66221	-0.5978	10	0.66056	D	0.02	.	14.0958	0.65021	0.0:0.9277:0.0:0.0723	.	247	Q9NS86	LANC2_HUMAN	C	247	ENSP00000254770:R247C	ENSP00000254770:R247C	R	+	1	0	LANCL2	55436421	1.000000	0.71417	0.997000	0.53966	0.719000	0.41307	4.404000	0.59735	1.570000	0.49709	0.655000	0.94253	CGC	LANCL2	-	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like	ENSG00000132434		0.433	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LANCL2	HGNC	protein_coding	OTTHUMT00000251459.1	192	0.00	0	C	NM_018697		55468927	55468927	+1	no_errors	ENST00000254770	ensembl	human	known	69_37n	missense	283	14.46	48	SNP	1.000	T
LECT1	11061	genome.wustl.edu	37	13	53282808	53282808	+	Missense_Mutation	SNP	T	T	C	rs150668240		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr13:53282808T>C	ENST00000377962.3	-	6	730	c.652A>G	c.(652-654)Aga>Gga	p.R218G	LECT1_ENST00000448904.2_Missense_Mutation_p.R218G			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	218					cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		ACAATTTTTCTTACCACTTCT	0.388																																						dbGAP											0													176.0	165.0	168.0					13																	53282808		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"""BRICHOS domain containing"""	17005	protein-coding gene	gene with protein product	"""BRICHOS domain containing 3"""	605147	"""multiple myeloma tumor suppressor 1"""	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.652A>G	13.37:g.53282808T>C	ENSP00000367198:p.Arg218Gly		Q5TAM4|Q8TAY6|Q9UM18	Missense_Mutation	SNP	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	p.R218G	ENST00000377962.3	37	c.652	CCDS9437.1	13	.	.	.	.	.	.	.	.	.	.	T	17.22	3.335298	0.60853	.	.	ENSG00000136110	ENST00000448904;ENST00000377962	T;T	0.32753	1.44;1.44	5.06	5.06	0.68205	.	0.202733	0.51477	D	0.000095	T	0.36826	0.0981	M	0.67953	2.075	0.52501	D	0.99995	P;P	0.50369	0.934;0.891	B;B	0.44085	0.44;0.255	T	0.28808	-1.0032	10	0.46703	T	0.11	-3.3519	14.2946	0.66302	0.0:0.0:0.0:1.0	.	218;218	O75829-2;O75829	.;LECT1_HUMAN	G	218	ENSP00000388576:R218G;ENSP00000367198:R218G	ENSP00000367198:R218G	R	-	1	2	LECT1	52180809	1.000000	0.71417	0.965000	0.40720	0.995000	0.86356	5.100000	0.64560	2.044000	0.60594	0.454000	0.30748	AGA	LECT1	-	NULL	ENSG00000136110		0.388	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LECT1	HGNC	protein_coding	OTTHUMT00000045110.3	108	0.00	0	T			53282808	53282808	-1	no_errors	ENST00000377962	ensembl	human	known	69_37n	missense	64	11.11	8	SNP	0.990	C
LENG8	114823	genome.wustl.edu	37	19	54969606	54969606	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:54969606C>T	ENST00000326764.5	+	15	2625	c.2146C>T	c.(2146-2148)Cgg>Tgg	p.R716W	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	679										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CCGCTTTTTCCGGCTCTACTG	0.577																																						dbGAP											0													115.0	90.0	99.0					19																	54969606		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.2146C>T	19.37:g.54969606C>T	ENSP00000318374:p.Arg716Trp		B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.R716W	ENST00000326764.5	37	c.2146	CCDS12894.1	19	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993590	0.74703	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846;ENST00000421200	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.36	4.31	0.51392	.	0.150619	0.44902	D	0.000406	T	0.31606	0.0802	M	0.77486	2.375	0.80722	D	1	B;P	0.37824	0.201;0.609	B;B	0.29524	0.041;0.103	T	0.30179	-0.9987	10	0.87932	D	0	-36.7576	11.1436	0.48417	0.3468:0.6531:0.0:0.0	.	716;679	Q96PV6-2;F8W9Q9	.;.	W	716;679;679;716;5	ENSP00000318374:R716W;ENSP00000365709:R679W;ENSP00000388053:R716W;ENSP00000390612:R5W	ENSP00000301196:R679W	R	+	1	2	LENG8	59661418	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.425000	0.34859	1.347000	0.45714	0.561000	0.74099	CGG	LENG8	-	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	ENSG00000167615		0.577	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG8	HGNC	protein_coding	OTTHUMT00000140523.2	200	0.00	0	C	NM_052925		54969606	54969606	+1	no_errors	ENST00000326764	ensembl	human	known	69_37n	missense	263	11.74	35	SNP	1.000	T
LETMD1	25875	genome.wustl.edu	37	12	51442870	51442870	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:51442870A>G	ENST00000262055.4	+	2	215	c.176A>G	c.(175-177)tAt>tGt	p.Y59C	LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000550929.1_Missense_Mutation_p.Y3C|LETMD1_ENST00000380123.2_Missense_Mutation_p.Y59C|LETMD1_ENST00000418425.2_Missense_Mutation_p.Y59C|LETMD1_ENST00000547008.1_Missense_Mutation_p.Y59C|LETMD1_ENST00000548516.1_3'UTR	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	59	Required and sufficient for mitochondrial import.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						TTGATGTCTTATGTGGTAACC	0.423																																						dbGAP											0													123.0	109.0	114.0					12																	51442870		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.176A>G	12.37:g.51442870A>G	ENSP00000262055:p.Tyr59Cys		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	pfam_LETM1	p.Y59C	ENST00000262055.4	37	c.176	CCDS8806.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.98|14.98	2.698251|2.698251	0.48307|0.48307	.|.	.|.	ENSG00000050426|ENSG00000050426	ENST00000547256|ENST00000551477;ENST00000550929;ENST00000262055;ENST00000550442;ENST00000549340;ENST00000548209;ENST00000548251;ENST00000380123;ENST00000548401;ENST00000418425;ENST00000448283;ENST00000547008	.|T;T;T;T;T;T;T;T;T;T;T	.|0.53857	.|0.72;0.67;0.67;0.79;0.72;0.77;0.67;0.78;0.77;0.64;0.6	4.7|4.7	3.48|3.48	0.39840|0.39840	.|.	.|0.403734	.|0.26116	.|N	.|0.026246	T|T	0.51126|0.51126	0.1656|0.1656	N|N	0.24115|0.24115	0.695|0.695	0.31944|0.31944	N|N	0.610528|0.610528	.|D;D;D;D;D;D	.|0.89917	.|1.0;0.998;0.998;0.999;0.997;0.998	.|D;P;P;D;P;P	.|0.70935	.|0.971;0.906;0.747;0.947;0.875;0.747	T|T	0.56153|0.56153	-0.8026|-0.8026	5|10	.|0.48119	.|T	.|0.1	-12.5505|-12.5505	5.1848|5.1848	0.15178|0.15178	0.6401:0.1837:0.0:0.1762|0.6401:0.1837:0.0:0.1762	.|.	.|59;59;59;59;59;59	.|B7Z9A7;F8VVQ3;B3KXK7;F8W6J0;F8W1Z2;Q6P1Q0	.|.;.;.;.;.;LTMD1_HUMAN	V|C	4|26;3;59;59;59;59;59;59;66;59;59;59	.|ENSP00000446862:Y26C;ENSP00000450163:Y3C;ENSP00000262055:Y59C;ENSP00000448110:Y59C;ENSP00000449896:Y59C;ENSP00000450275:Y59C;ENSP00000447166:Y59C;ENSP00000369466:Y59C;ENSP00000450082:Y66C;ENSP00000389903:Y59C;ENSP00000447419:Y59C	.|ENSP00000262055:Y59C	M|Y	+|+	1|2	0|0	LETMD1|LETMD1	49729137|49729137	0.943000|0.943000	0.32029|0.32029	0.975000|0.975000	0.42487|0.42487	0.339000|0.339000	0.28857|0.28857	1.980000|1.980000	0.40618|0.40618	2.108000|2.108000	0.64289|0.64289	0.533000|0.533000	0.62120|0.62120	ATG|TAT	LETMD1	-	NULL	ENSG00000050426		0.423	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LETMD1	HGNC	protein_coding	OTTHUMT00000404710.1	171	0.00	0	A	NM_015416		51442870	51442870	+1	no_errors	ENST00000262055	ensembl	human	known	69_37n	missense	137	15.43	25	SNP	0.771	G
LHX6	26468	genome.wustl.edu	37	9	124976343	124976343	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:124976343C>T	ENST00000373755.2	-	6	810	c.702G>A	c.(700-702)atG>atA	p.M234I	LHX6_ENST00000559895.1_Missense_Mutation_p.M47I|LHX6_ENST00000464484.2_5'Flank|LHX6_ENST00000541397.2_Missense_Mutation_p.M252I|LHX6_ENST00000394319.4_Missense_Mutation_p.M263I|LHX6_ENST00000340587.3_Missense_Mutation_p.M263I|LHX6_ENST00000482062.1_5'Flank|LHX6_ENST00000373754.2_Missense_Mutation_p.M234I	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	234					cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)	8						ACTGCGCCTGCATAACCTGCG	0.701																																						dbGAP											0													21.0	23.0	22.0					9																	124976343		2199	4294	6493	-	-	-	SO:0001583	missense	0			AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"""Homeoboxes / LIM class"""	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.702G>A	9.37:g.124976343C>T	ENSP00000362860:p.Met234Ile		A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.M263I	ENST00000373755.2	37	c.789	CCDS56583.1	9	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639449	0.87760	.	.	ENSG00000106852	ENST00000373755;ENST00000373754;ENST00000394319;ENST00000340587;ENST00000541397	D;D;D;D;D	0.96232	-3.95;-3.95;-3.95;-3.95;-3.95	5.1	5.1	0.69264	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	M	0.81682	2.555	0.80722	D	1	P;B;P	0.45283	0.855;0.438;0.825	P;B;P	0.53593	0.73;0.234;0.61	D	0.98296	1.0516	10	0.72032	D	0.01	.	17.4971	0.87720	0.0:1.0:0.0:0.0	.	234;263;263	Q9UPM6;Q9UPM6-4;Q9UPM6-3	LHX6_HUMAN;.;.	I	234;234;263;263;252	ENSP00000362860:M234I;ENSP00000362859:M234I;ENSP00000377854:M263I;ENSP00000340137:M263I;ENSP00000441464:M252I	ENSP00000340137:M263I	M	-	3	0	LHX6	124016164	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.318000	0.79029	2.376000	0.81061	0.585000	0.79938	ATG	LHX6	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000106852		0.701	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	LHX6	HGNC	protein_coding	OTTHUMT00000053924.2	46	0.00	0	C	NM_014368		124976343	124976343	-1	no_errors	ENST00000394319	ensembl	human	known	69_37n	missense	82	12.63	12	SNP	1.000	T
LIMA1	51474	genome.wustl.edu	37	12	50571187	50571187	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:50571187T>C	ENST00000341247.4	-	11	2089	c.1940A>G	c.(1939-1941)aAt>aGt	p.N647S	LIMA1_ENST00000552491.1_Missense_Mutation_p.N344S|LIMA1_ENST00000552823.1_Missense_Mutation_p.N487S|LIMA1_ENST00000547825.1_Missense_Mutation_p.N345S|LIMA1_ENST00000552909.1_Missense_Mutation_p.N486S|LIMA1_ENST00000394943.3_Missense_Mutation_p.N648S|LIMA1_ENST00000552783.1_Missense_Mutation_p.N488S	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	647					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TTTTCCCACATTCCCATTCTT	0.433																																						dbGAP											0													296.0	301.0	299.0					12																	50571187		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1940A>G	12.37:g.50571187T>C	ENSP00000340184:p.Asn647Ser		B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.N648S	ENST00000341247.4	37	c.1943	CCDS8802.1	12	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.984887	0.00443	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	T;T;T;D;T;T;T	0.83250	-0.96;-0.96;-1.28;-1.7;-0.96;-1.28;-1.28	5.84	-4.06	0.03986	.	1.623460	0.02327	N	0.073592	T	0.50017	0.1591	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.59685	-0.7408	10	0.02654	T	1	.	3.1686	0.06544	0.0997:0.2177:0.1969:0.4856	.	657;647;486	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	S	344;345;487;648;647;488;486;566	ENSP00000448463:N344S;ENSP00000448706:N345S;ENSP00000450266:N487S;ENSP00000378400:N648S;ENSP00000340184:N647S;ENSP00000448779:N488S;ENSP00000450087:N486S	ENSP00000340184:N647S	N	-	2	0	LIMA1	48857454	0.000000	0.05858	0.002000	0.10522	0.176000	0.22953	-0.651000	0.05372	-1.056000	0.03205	-1.209000	0.01634	AAT	LIMA1	-	NULL	ENSG00000050405		0.433	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	LIMA1	HGNC	protein_coding	OTTHUMT00000406235.2	222	0.00	0	T	NM_016357		50571187	50571187	-1	no_errors	ENST00000394943	ensembl	human	known	69_37n	missense	152	11.63	20	SNP	0.000	C
LIMS2	55679	genome.wustl.edu	37	2	128400504	128400504	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:128400504T>C	ENST00000355119.4	-	5	668	c.503A>G	c.(502-504)cAc>cGc	p.H168R	LIMS2_ENST00000409254.1_Missense_Mutation_p.H16R|GPR17_ENST00000544369.1_5'Flank|LIMS2_ENST00000410038.1_Missense_Mutation_p.H16R|LIMS2_ENST00000410011.1_Missense_Mutation_p.H163R|LIMS2_ENST00000409754.1_Missense_Mutation_p.H16R|LIMS2_ENST00000324938.5_Missense_Mutation_p.H192R|LIMS2_ENST00000409286.1_Missense_Mutation_p.H16R|LIMS2_ENST00000409808.2_Missense_Mutation_p.H163R|LIMS2_ENST00000494613.1_5'Flank|LIMS2_ENST00000409455.1_Missense_Mutation_p.H163R|LIMS2_ENST00000545738.2_Missense_Mutation_p.H190R	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	168	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CTACCCACAGTGGGTGCAGTT	0.667																																						dbGAP											0													62.0	44.0	50.0					2																	128400504		2189	4284	6473	-	-	-	SO:0001583	missense	0			AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.503A>G	2.37:g.128400504T>C	ENSP00000347240:p.His168Arg		A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM	p.H192R	ENST00000355119.4	37	c.575	CCDS54395.1	2	.	.	.	.	.	.	.	.	.	.	t	11.55	1.670665	0.29693	.	.	ENSG00000072163	ENST00000545738;ENST00000355119;ENST00000409286;ENST00000409754;ENST00000324938;ENST00000409455;ENST00000410109;ENST00000409808;ENST00000410011;ENST00000342067;ENST00000537572;ENST00000410038;ENST00000544917;ENST00000409254	D;D;D;D;D;D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22	5.31	5.31	0.75309	Zinc finger, LIM-type (5);	0.149237	0.64402	D	0.000012	D	0.82651	0.5083	L	0.51422	1.61	0.53005	D	0.999966	B;B;B	0.30281	0.02;0.157;0.275	B;B;B	0.29077	0.098;0.062;0.037	T	0.79006	-0.1979	10	0.12430	T	0.62	.	15.2555	0.73582	0.0:0.0:0.0:1.0	.	190;168;192	F5H6E6;Q7Z4I7;Q7Z4I7-2	.;LIMS2_HUMAN;.	R	190;168;16;16;192;163;163;163;163;76;16;16;190;16	ENSP00000443794:H190R;ENSP00000347240:H168R;ENSP00000386252:H16R;ENSP00000386345:H16R;ENSP00000326888:H192R;ENSP00000386383:H163R;ENSP00000386637:H163R;ENSP00000387002:H163R;ENSP00000386570:H16R;ENSP00000386907:H16R	ENSP00000326888:H192R	H	-	2	0	LIMS2	128116974	1.000000	0.71417	1.000000	0.80357	0.219000	0.24729	7.835000	0.86780	2.004000	0.58718	0.455000	0.32223	CAC	LIMS2	-	pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH	ENSG00000072163		0.667	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LIMS2	HGNC	protein_coding	OTTHUMT00000331133.2	175	0.56	1	T	NM_017980		128400504	128400504	-1	no_errors	ENST00000324938	ensembl	human	known	69_37n	missense	189	13.70	30	SNP	1.000	C
LMNB1	4001	genome.wustl.edu	37	5	126154788	126154788	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:126154788delA	ENST00000261366.5	+	6	1475	c.1114delA	c.(1114-1116)atgfs	p.M372fs	LMNB1_ENST00000460265.1_3'UTR|LMNB1_ENST00000395354.1_Frame_Shift_Del_p.M372fs	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	372	Coil 2.|Rod.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		AGCCCTGGACATGGAAATCAG	0.453																																						dbGAP											0													96.0	94.0	94.0					5																	126154788		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"""Intermediate filaments type V, lamins"""	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.1114delA	5.37:g.126154788delA	ENSP00000261366:p.Met372fs		B2R6J6|Q3SYN7|Q96EI6	Frame_Shift_Del	DEL	pfam_F,pfam_Lamin_tail_dom	p.M372fs	ENST00000261366.5	37	c.1114	CCDS4140.1	5																																																																																			LMNB1	-	pfam_F	ENSG00000113368		0.453	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMNB1	HGNC	protein_coding	OTTHUMT00000250956.2	129	0.00	0	A	NM_005573		126154788	126154788	+1	no_errors	ENST00000261366	ensembl	human	known	69_37n	frame_shift_del	23	11.54	3	DEL	1.000	-
LMO3	55885	genome.wustl.edu	37	12	16753770	16753770	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:16753770T>C	ENST00000320122.6	-	2	547	c.25A>G	c.(25-27)Aag>Gag	p.K9E	LMO3_ENST00000537568.1_5'UTR|LMO3_ENST00000540445.1_Missense_Mutation_p.K9E|LMO3_ENST00000540848.1_Missense_Mutation_p.K9E|LMO3_ENST00000441439.2_Missense_Mutation_p.K9E|LMO3_ENST00000535535.1_Missense_Mutation_p.K9E|LMO3_ENST00000541295.1_Missense_Mutation_p.K27E|LMO3_ENST00000537304.1_Missense_Mutation_p.K9E|LMO3_ENST00000261169.6_Missense_Mutation_p.K20E|LMO3_ENST00000534946.1_Missense_Mutation_p.K9E|LMO3_ENST00000354662.1_Missense_Mutation_p.K9E|LMO3_ENST00000541846.1_Missense_Mutation_p.K9E|LMO3_ENST00000447609.1_Missense_Mutation_p.K9E	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	9					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				CCTTTCGGCTTGGTGTCTGGC	0.458																																						dbGAP											0													69.0	66.0	67.0					12																	16753770		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026311	CCDS8678.1, CCDS58210.1, CCDS58211.1, CCDS58212.1	12p13	2004-05-19			ENSG00000048540	ENSG00000048540			6643	protein-coding gene	gene with protein product		180386		RBTNL2		11489251	Standard	NM_018640		Approved	Rhom-3, DAT1	uc010shy.2	Q8TAP4	OTTHUMG00000168837	ENST00000320122.6:c.25A>G	12.37:g.16753770T>C	ENSP00000312856:p.Lys9Glu		B4DG90|B4DH35|Q58A66|Q58A67|Q8N974|Q9UDD5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.K27E	ENST00000320122.6	37	c.79	CCDS8678.1	12	.	.	.	.	.	.	.	.	.	.	T	14.63	2.591831	0.46214	.	.	ENSG00000048540	ENST00000354662;ENST00000441439;ENST00000447609;ENST00000320122;ENST00000261169;ENST00000542544;ENST00000540848;ENST00000535535;ENST00000537304;ENST00000541295;ENST00000534946;ENST00000540445;ENST00000541846;ENST00000539534;ENST00000546281;ENST00000537757;ENST00000546279;ENST00000538051;ENST00000545436;ENST00000540590;ENST00000538020	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63417	1.52;1.52;1.52;1.52;1.5;1.52;1.52;1.52;1.6;1.52;1.97;1.52;1.04;1.04;1.04;0.83;-0.04;0.2;0.52;1.15	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.42944	0.1225	N	0.20530	0.585	0.45962	D	0.998788	B;B;B;B	0.22683	0.023;0.026;0.017;0.073	B;B;B;B	0.20184	0.028;0.007;0.018;0.028	T	0.36089	-0.9762	10	0.06625	T	0.88	.	12.248	0.54581	0.0:0.0:0.1417:0.8583	.	9;27;9;20	B4DH35;B4DG90;Q8TAP4;Q58A67	.;.;LMO3_HUMAN;.	E	9;9;9;9;20;9;9;9;9;27;9;9;9;9;9;9;9;9;9;9;9	ENSP00000346689:K9E;ENSP00000412479:K9E;ENSP00000413703:K9E;ENSP00000312856:K9E;ENSP00000261169:K20E;ENSP00000445751:K9E;ENSP00000446115:K9E;ENSP00000440099:K9E;ENSP00000446463:K27E;ENSP00000439275:K9E;ENSP00000442786:K9E;ENSP00000444393:K9E;ENSP00000443807:K9E;ENSP00000442713:K9E;ENSP00000445193:K9E;ENSP00000441360:K9E;ENSP00000445504:K9E;ENSP00000444269:K9E;ENSP00000439989:K9E;ENSP00000446095:K9E	ENSP00000261169:K20E	K	-	1	0	LMO3	16645037	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.868000	0.69605	2.267000	0.75376	0.477000	0.44152	AAG	LMO3	-	NULL	ENSG00000048540		0.458	LMO3-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LMO3	HGNC	protein_coding	OTTHUMT00000401279.1	125	0.00	0	T	NM_018640		16753770	16753770	-1	no_errors	ENST00000541295	ensembl	human	known	69_37n	missense	58	14.71	10	SNP	1.000	C
PLPPR3	79948	genome.wustl.edu	37	19	814532	814532	+	Missense_Mutation	SNP	C	C	T	rs3746139		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:814532C>T	ENST00000520876.3	-	7	811	c.733G>A	c.(733-735)Gcg>Acg	p.A245T	MIR3187_ENST00000583431.1_RNA|LPPR3_ENST00000359894.2_Missense_Mutation_p.A273T	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		245						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										CATACGCCCGCGGCGATGGCA	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		16202	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													51.0	53.0	52.0					19																	814532		2194	4300	6494	-	-	-	SO:0001583	missense	0																														ENST00000520876.3:c.733G>A	19.37:g.814532C>T	ENSP00000430297:p.Ala245Thr		Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.A273T	ENST00000520876.3	37	c.817	CCDS58636.1	19	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	22.9|22.9	4.355902|4.355902	0.82243|0.82243	.|.	.|.	ENSG00000129951|ENSG00000129951	ENST00000300947;ENST00000359894;ENST00000520876|ENST00000517665;ENST00000521445	D;D|.	0.82619|.	-1.63;-1.63|.	4.66|4.66	4.66|4.66	0.58398|0.58398	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73938|0.73938	0.3651|0.3651	M|M	0.70842|0.70842	2.15|2.15	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.71674|.	0.997;0.998;0.997|.	D;D;P|.	0.67382|.	0.918;0.951;0.845|.	T|T	0.74907|0.74907	-0.3504|-0.3504	10|5	0.87932|.	D|.	0|.	-14.8067|-14.8067	16.5199|16.5199	0.84311|0.84311	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	rs3746139|rs3746139	246;245;273|.	Q6T4P5-2;Q6T4P5;Q6T4P5-3|.	.;LPPR3_HUMAN;.|.	T|H	246;273;245|33;194	ENSP00000352962:A273T;ENSP00000430297:A245T|.	ENSP00000300947:A246T|.	A|R	-|-	1|2	0|0	AC006273.1|AC006273.1	765532|765532	1.000000|1.000000	0.71417|0.71417	0.061000|0.061000	0.19648|0.19648	0.152000|0.152000	0.21847|0.21847	7.199000|7.199000	0.77831|0.77831	2.137000|2.137000	0.66172|0.66172	0.555000|0.555000	0.69702|0.69702	GCG|CGC	hsa-mir-3187	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	ENSG00000129951		0.637	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR3	miRBase	protein_coding	OTTHUMT00000379096.3	131	0.00	0	C			814532	814532	-1	no_errors	ENST00000359894	ensembl	human	known	69_37n	missense	183	19.74	45	SNP	0.998	T
LRIG1	26018	genome.wustl.edu	37	3	66463382	66463382	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:66463382T>A	ENST00000273261.3	-	6	1228	c.704A>T	c.(703-705)aAc>aTc	p.N235I	LRIG1_ENST00000383703.3_Missense_Mutation_p.N235I	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	235					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CTCCAAGCTGTTGAGCCCCTG	0.532																																						dbGAP											0													181.0	137.0	152.0					3																	66463382		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.704A>T	3.37:g.66463382T>A	ENSP00000273261:p.Asn235Ile		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.N235I	ENST00000273261.3	37	c.704	CCDS33783.1	3	.	.	.	.	.	.	.	.	.	.	T	15.23	2.772117	0.49680	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.57273	0.41;0.41	5.69	4.53	0.55603	.	0.395909	0.30920	N	0.008605	T	0.36386	0.0965	N	0.12182	0.205	0.26434	N	0.975888	B;B	0.20459	0.001;0.045	B;B	0.29440	0.004;0.102	T	0.30119	-0.9989	10	0.40728	T	0.16	.	11.3425	0.49541	0.0:0.0709:0.0:0.9291	.	235;235	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	I	235;235;162	ENSP00000273261:N235I;ENSP00000373208:N235I	ENSP00000273261:N235I	N	-	2	0	LRIG1	66546072	0.977000	0.34250	0.993000	0.49108	0.898000	0.52572	0.985000	0.29578	0.997000	0.38969	0.402000	0.26972	AAC	LRIG1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000144749		0.532	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG1	HGNC	protein_coding	OTTHUMT00000351930.1	244	0.00	0	T	NM_015541		66463382	66463382	-1	no_errors	ENST00000273261	ensembl	human	known	69_37n	missense	325	15.58	60	SNP	0.999	A
LRRC32	2615	genome.wustl.edu	37	11	76372195	76372195	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:76372195C>T	ENST00000407242.2	-	3	684	c.442G>A	c.(442-444)Gca>Aca	p.A148T	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Missense_Mutation_p.A148T|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.A148T	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	148					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGGCTGGGTGCCTCCCCCAGC	0.677																																						dbGAP											0													40.0	47.0	45.0					11																	76372195		2200	4292	6492	-	-	-	SO:0001583	missense	0			Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.442G>A	11.37:g.76372195C>T	ENSP00000384126:p.Ala148Thr		Q86V06	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.A148T	ENST00000407242.2	37	c.442	CCDS8245.1	11	.	.	.	.	.	.	.	.	.	.	C	9.617	1.132734	0.21041	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995;ENST00000421973	T;T;T;T	0.79845	-1.31;-1.31;-1.31;0.44	4.56	3.63	0.41609	.	0.117378	0.56097	N	0.000023	T	0.73682	0.3618	L	0.28694	0.88	0.50813	D	0.999892	B;B	0.33477	0.413;0.413	B;B	0.40375	0.248;0.327	T	0.69522	-0.5123	10	0.29301	T	0.29	.	13.0809	0.59114	0.0:0.9211:0.0:0.0789	.	148;148	C9JYU3;Q14392	.;LRC32_HUMAN	T	148	ENSP00000260061:A148T;ENSP00000384126:A148T;ENSP00000385766:A148T;ENSP00000413331:A148T	ENSP00000260061:A148T	A	-	1	0	LRRC32	76049843	1.000000	0.71417	0.983000	0.44433	0.180000	0.23129	4.623000	0.61247	1.118000	0.41863	0.561000	0.74099	GCA	LRRC32	-	NULL	ENSG00000137507		0.677	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC32	HGNC	protein_coding	OTTHUMT00000257926.2	144	0.00	0	C	NM_005512		76372195	76372195	-1	no_errors	ENST00000260061	ensembl	human	known	69_37n	missense	177	10.78	22	SNP	0.998	T
LRRC48	83450	genome.wustl.edu	37	17	17900948	17900948	+	Splice_Site	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:17900948G>A	ENST00000399187.1	+	9	1217	c.999G>A	c.(997-999)tcG>tcA	p.S333S	LRRC48_ENST00000584166.1_Splice_Site_p.S333S|LRRC48_ENST00000313838.8_Splice_Site_p.S333S|LRRC48_ENST00000399182.1_Splice_Site_p.S333S|LRRC48_ENST00000411504.2_Splice_Site_p.S333S	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	333						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					AGCACTTGTCGGTAGGCCCCG	0.587																																						dbGAP											0													42.0	41.0	41.0					17																	17900948		2022	4171	6193	-	-	-	SO:0001630	splice_region_variant	0			AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.999+1G>A	17.37:g.17900948G>A			A8KAE6|Q86SF9|Q86W73|Q8IWG0	Silent	SNP	NULL	p.S333	ENST00000399187.1	37	c.999	CCDS45622.1	17																																																																																			LRRC48	-	NULL	ENSG00000171962		0.587	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	LRRC48	HGNC	protein_coding	OTTHUMT00000131945.3	91	0.00	0	G	NM_031294	Silent	17900948	17900948	+1	no_errors	ENST00000313838	ensembl	human	known	69_37n	silent	45	42.31	33	SNP	0.907	A
LRRC49	54839	genome.wustl.edu	37	15	71256256	71256256	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:71256256T>C	ENST00000260382.5	+	9	1166	c.906T>C	c.(904-906)gaT>gaC	p.D302D	LRRC49_ENST00000560158.2_Intron|LRRC49_ENST00000443425.2_Silent_p.D258D|LRRC49_ENST00000544974.2_Silent_p.D292D|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560691.1_Silent_p.D8D|LRRC49_ENST00000560369.1_Silent_p.D307D	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	302	LRRCT.					cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GCCAGCTAGATATGAAGAGAA	0.448																																						dbGAP											0													114.0	99.0	104.0					15																	71256256		2199	4297	6496	-	-	-	SO:0001819	synonymous_variant	0				CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.906T>C	15.37:g.71256256T>C			B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.D302	ENST00000260382.5	37	c.906	CCDS32282.1	15																																																																																			LRRC49	-	NULL	ENSG00000137821		0.448	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRC49	HGNC	protein_coding	OTTHUMT00000417209.3	227	0.00	0	T	NM_017691		71256256	71256256	+1	no_errors	ENST00000260382	ensembl	human	known	69_37n	silent	43	14.00	7	SNP	0.994	C
LRRC73	221424	genome.wustl.edu	37	6	43475245	43475245	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:43475245G>A	ENST00000372441.1	-	5	1729	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W		NM_001012974.1	NP_001012992.1	Q5JTD7	LRC73_HUMAN	leucine rich repeat containing 73	277																	GCAGGCTCCCGCCCTCTCTCC	0.637																																						dbGAP											0													31.0	36.0	34.0					6																	43475245		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS34456.1	6p21.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000204052	ENSG00000204052			21375	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 154"""	C6orf154			Standard	NM_001012974		Approved	dJ337H4.2	uc003ovk.2	Q5JTD7	OTTHUMG00000014737	ENST00000372441.1:c.829C>T	6.37:g.43475245G>A	ENSP00000361518:p.Arg277Trp			Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R277W	ENST00000372441.1	37	c.829	CCDS34456.1	6	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725319	0.30593	.	.	ENSG00000204052	ENST00000372441	T	0.37752	1.18	5.55	1.16	0.20824	.	0.345602	0.30142	N	0.010311	T	0.06735	0.0172	N	0.22421	0.69	0.09310	N	1	P	0.48589	0.912	B	0.26969	0.075	T	0.20075	-1.0286	10	0.52906	T	0.07	-7.8768	10.7521	0.46216	0.0:0.1196:0.5335:0.3469	.	277	Q5JTD7	CF154_HUMAN	W	277	ENSP00000361518:R277W	ENSP00000361518:R277W	R	-	1	2	C6orf154	43583223	0.008000	0.16893	0.675000	0.29917	0.838000	0.47535	0.962000	0.29280	0.244000	0.21351	-0.182000	0.12963	CGG	LRRC73	-	NULL	ENSG00000204052		0.637	LRRC73-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC73	HGNC	protein_coding	OTTHUMT00000040635.1	33	0.00	0	G	NM_001012974		43475245	43475245	-1	no_errors	ENST00000372441	ensembl	human	novel	69_37n	missense	75	12.64	11	SNP	0.001	A
LRRC8A	56262	genome.wustl.edu	37	9	131670789	131670789	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:131670789A>G	ENST00000259324.5	+	3	1869	c.1346A>G	c.(1345-1347)gAg>gGg	p.E449G	LRRC8A_ENST00000372600.4_Missense_Mutation_p.E449G|LRRC8A_ENST00000372599.3_Missense_Mutation_p.E449G	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	449					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GTGGAGCTGGAGGTCCTCAAG	0.627																																						dbGAP											0													27.0	26.0	26.0					9																	131670789		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1346A>G	9.37:g.131670789A>G	ENSP00000259324:p.Glu449Gly		Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E449G	ENST00000259324.5	37	c.1346	CCDS35155.1	9	.	.	.	.	.	.	.	.	.	.	A	17.08	3.298742	0.60195	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.21543	2.0;2.0;2.0	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	M	0.82056	2.57	0.80722	D	1	D	0.58620	0.983	P	0.55923	0.787	T	0.47812	-0.9088	10	0.72032	D	0.01	.	14.805	0.69945	1.0:0.0:0.0:0.0	.	449	Q8IWT6	LRC8A_HUMAN	G	449	ENSP00000361682:E449G;ENSP00000361680:E449G;ENSP00000259324:E449G	ENSP00000259324:E449G	E	+	2	0	LRRC8A	130710610	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.339000	0.96797	2.098000	0.63641	0.459000	0.35465	GAG	LRRC8A	-	NULL	ENSG00000136802		0.627	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	HGNC	protein_coding	OTTHUMT00000054516.2	21	0.00	0	A	NM_019594		131670789	131670789	+1	no_errors	ENST00000259324	ensembl	human	known	69_37n	missense	26	13.33	4	SNP	1.000	G
LRRK1	79705	genome.wustl.edu	37	15	101566237	101566237	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:101566237G>A	ENST00000388948.3	+	17	2659	c.2300G>A	c.(2299-2301)cGt>cAt	p.R767H	LRRK1_ENST00000284395.5_Missense_Mutation_p.R764H	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCAAGTTCCGTGTGGAAAGG	0.602																																						dbGAP											0													105.0	118.0	114.0					15																	101566237		2121	4230	6351	-	-	-	SO:0001583	missense	0			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2300G>A	15.37:g.101566237G>A	ENSP00000373600:p.Arg767His			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.R767H	ENST00000388948.3	37	c.2300	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619540	0.87460	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.80653	-1.4;-1.4	4.71	4.71	0.59529	ROC GTPase (1);	0.000000	0.85682	D	0.000000	D	0.86385	0.5920	L	0.47716	1.5	0.58432	D	0.999999	D	0.89917	1.0	D	0.72075	0.976	D	0.86683	0.1918	10	0.46703	T	0.11	.	17.6842	0.88252	0.0:0.0:1.0:0.0	.	767	Q38SD2	LRRK1_HUMAN	H	767;764	ENSP00000373600:R767H;ENSP00000284395:R764H	ENSP00000284395:R764H	R	+	2	0	LRRK1	99383760	1.000000	0.71417	0.965000	0.40720	0.614000	0.37383	7.306000	0.78905	2.158000	0.67659	0.462000	0.41574	CGT	LRRK1	-	pfam_Small_GTPase_ARF/SAR	ENSG00000154237		0.602	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	137	0.72	1	G	NM_024652		101566237	101566237	+1	no_errors	ENST00000388948	ensembl	human	known	69_37n	missense	146	10.30	17	SNP	1.000	A
LRRN2	10446	genome.wustl.edu	37	1	204587556	204587556	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:204587556C>G	ENST00000367175.1	-	1	3777	c.1565G>C	c.(1564-1566)gGc>gCc	p.G522A	LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367177.3_Missense_Mutation_p.G522A|LRRN2_ENST00000367176.3_Missense_Mutation_p.G522A|RP11-430C7.4_ENST00000453895.1_RNA			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	522					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TTCGTCCCTGCCTGGCTGGAG	0.617																																						dbGAP											0													76.0	72.0	73.0					1																	204587556		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1565G>C	1.37:g.204587556C>G	ENSP00000356143:p.Gly522Ala		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G522A	ENST00000367175.1	37	c.1565	CCDS1448.1	1	.	.	.	.	.	.	.	.	.	.	C	4.721	0.134106	0.09032	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.59224	0.28;0.28;0.28	5.35	2.41	0.29592	.	0.339996	0.21309	N	0.076680	T	0.27765	0.0683	N	0.08118	0	0.30233	N	0.795746	B	0.06786	0.001	B	0.06405	0.002	T	0.24012	-1.0172	10	0.07175	T	0.84	.	5.3846	0.16211	0.0:0.6513:0.1662:0.1825	.	522	O75325	LRRN2_HUMAN	A	522	ENSP00000356144:G522A;ENSP00000356145:G522A;ENSP00000356143:G522A	ENSP00000356143:G522A	G	-	2	0	LRRN2	202854179	0.956000	0.32656	0.837000	0.33122	0.968000	0.65278	0.930000	0.28858	0.235000	0.21160	0.543000	0.68304	GGC	LRRN2	-	superfamily_Fibronectin_type3	ENSG00000170382		0.617	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN2	HGNC	protein_coding	OTTHUMT00000089894.1	157	0.00	0	C	NM_006338		204587556	204587556	-1	no_errors	ENST00000367175	ensembl	human	known	69_37n	missense	200	22.09	57	SNP	0.957	G
LYST	1130	genome.wustl.edu	37	1	235872544	235872544	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:235872544C>T	ENST00000389794.3	-	44	10164	c.9990G>A	c.(9988-9990)gcG>gcA	p.A3330A	LYST_ENST00000389793.2_Silent_p.A3330A|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3330	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GATCATTACGCGCCCAAGGGG	0.448																																						dbGAP											0													82.0	79.0	80.0					1																	235872544		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.9990G>A	1.37:g.235872544C>T			O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A3330	ENST00000389794.3	37	c.9990	CCDS31062.1	1																																																																																			LYST	-	pfam_BEACH_dom,superfamily_BEACH_dom,superfamily_ARM-type_fold,pfscan_BEACH_dom	ENSG00000143669		0.448	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	170	0.00	0	C			235872544	235872544	-1	no_errors	ENST00000389793	ensembl	human	known	69_37n	silent	44	27.87	17	SNP	1.000	T
LYST	1130	genome.wustl.edu	37	1	235967816	235967816	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:235967816A>G	ENST00000389794.3	-	7	3717	c.3543T>C	c.(3541-3543)gcT>gcC	p.A1181A	LYST_ENST00000389793.2_Silent_p.A1181A|LYST_ENST00000536965.1_Silent_p.A1181A			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1181					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCTCAGTCATAGCATCATTAT	0.423																																						dbGAP											0													126.0	129.0	128.0					1																	235967816		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3543T>C	1.37:g.235967816A>G			O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A1181	ENST00000389794.3	37	c.3543	CCDS31062.1	1																																																																																			LYST	-	superfamily_ARM-type_fold	ENSG00000143669		0.423	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	122	0.00	0	A			235967816	235967816	-1	no_errors	ENST00000389793	ensembl	human	known	69_37n	silent	38	17.39	8	SNP	0.300	G
LYST	1130	genome.wustl.edu	37	1	235969744	235969745	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:235969744_235969745insG	ENST00000389794.3	-	6	2865_2866	c.2691_2692insC	c.(2689-2694)acaatafs	p.I898fs	LYST_ENST00000389793.2_Frame_Shift_Ins_p.I898fs|LYST_ENST00000536965.1_Frame_Shift_Ins_p.I898fs			Q99698	LYST_HUMAN	lysosomal trafficking regulator	898					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AATAGGTTTATTGTGTTGATAT	0.416																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2691_2692insC	1.37:g.235969744_235969745insG	ENSP00000374444:p.Ile898fs		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Frame_Shift_Ins	INS	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I897fs	ENST00000389794.3	37	c.2692_2691	CCDS31062.1	1																																																																																			LYST	-	superfamily_ARM-type_fold	ENSG00000143669		0.416	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	69	0.00	0	-			235969744	235969745	-1	no_errors	ENST00000389793	ensembl	human	known	69_37n	frame_shift_ins	11	15.38	2	INS	0.994:0.353	G
LYST	1130	genome.wustl.edu	37	1	235969747	235969748	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:235969747_235969748insC	ENST00000389794.3	-	6	2862_2863	c.2688_2689insG	c.(2686-2691)aacacafs	p.T897fs	LYST_ENST00000389793.2_Frame_Shift_Ins_p.T897fs|LYST_ENST00000536965.1_Frame_Shift_Ins_p.T897fs			Q99698	LYST_HUMAN	lysosomal trafficking regulator	897					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGGTTTATTGTGTTGATATGAA	0.411																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2688_2689insG	1.37:g.235969747_235969748insC	ENSP00000374444:p.Thr897fs		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Frame_Shift_Ins	INS	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T896fs	ENST00000389794.3	37	c.2689_2688	CCDS31062.1	1																																																																																			LYST	-	superfamily_ARM-type_fold	ENSG00000143669		0.411	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	70	0.00	0	-			235969747	235969748	-1	no_errors	ENST00000389793	ensembl	human	known	69_37n	frame_shift_ins	12	14.29	2	INS	0.984:0.997	C
MAD1L1	8379	genome.wustl.edu	37	7	2255847	2255847	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:2255847G>A	ENST00000406869.1	-	8	1311	c.754C>T	c.(754-756)Ctc>Ttc	p.L252F	MAD1L1_ENST00000265854.7_Missense_Mutation_p.L252F|MAD1L1_ENST00000486340.1_5'Flank|MAD1L1_ENST00000399654.2_Missense_Mutation_p.L252F|MAD1L1_ENST00000402746.1_Missense_Mutation_p.L160F			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	252					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		AGCCTAGGGAGCCGTACCAGC	0.627																																						dbGAP											0													53.0	57.0	56.0					7																	2255847		2025	4193	6218	-	-	-	SO:0001583	missense	0			U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.754C>T	7.37:g.2255847G>A	ENSP00000385334:p.Leu252Phe		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	pfam_MAD	p.L252F	ENST00000406869.1	37	c.754	CCDS43539.1	7	.	.	.	.	.	.	.	.	.	.	G	10.76	1.442507	0.25987	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000265854;ENST00000445959;ENST00000429625	T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69	5.33	1.79	0.24919	.	0.326793	0.31268	N	0.007948	T	0.13372	0.0324	L	0.28556	0.865	0.33074	D	0.535765	B;B;B;B	0.18166	0.026;0.012;0.012;0.007	B;B;B;B	0.16722	0.015;0.016;0.016;0.011	T	0.10989	-1.0606	10	0.23302	T	0.38	-14.572	2.2598	0.04064	0.4261:0.0:0.3449:0.229	.	181;252;160;252	C9K086;A4D218;B3KR41;Q9Y6D9	.;.;.;MD1L1_HUMAN	F	160;252;252;252;129;181	ENSP00000384155:L160F;ENSP00000382562:L252F;ENSP00000385334:L252F;ENSP00000265854:L252F;ENSP00000401901:L129F;ENSP00000413139:L181F	ENSP00000265854:L252F	L	-	1	0	MAD1L1	2222373	0.944000	0.32072	0.996000	0.52242	0.447000	0.32167	0.267000	0.18552	0.515000	0.28320	0.655000	0.94253	CTC	MAD1L1	-	pfam_MAD	ENSG00000002822		0.627	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAD1L1	HGNC	protein_coding	OTTHUMT00000322871.1	139	0.00	0	G	NM_003550		2255847	2255847	-1	no_errors	ENST00000265854	ensembl	human	known	69_37n	missense	202	12.93	30	SNP	0.999	A
MAG	4099	genome.wustl.edu	37	19	35793353	35793353	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:35793353G>A	ENST00000392213.3	+	7	1132	c.973G>A	c.(973-975)Gca>Aca	p.A325T	MAG_ENST00000361922.4_Missense_Mutation_p.A325T|MAG_ENST00000537831.2_Missense_Mutation_p.A300T	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	325	Ig-like C2-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCCGCAGATGCACCCTGGAA	0.582																																						dbGAP											0													73.0	63.0	66.0					19																	35793353		2203	4300	6503	-	-	-	SO:0001583	missense	0			M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.973G>A	19.37:g.35793353G>A	ENSP00000376048:p.Ala325Thr		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A325T	ENST00000392213.3	37	c.973	CCDS12455.1	19	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964333	0.53507	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.72835	-0.69;-0.69;-0.69	5.28	5.28	0.74379	Immunoglobulin-like fold (1);	0.056692	0.64402	D	0.000001	T	0.81108	0.4754	M	0.84326	2.69	0.44117	D	0.996892	D;D;D	0.63046	0.982;0.984;0.992	B;P;P	0.57425	0.431;0.724;0.82	T	0.82470	-0.0441	10	0.48119	T	0.1	.	12.1799	0.54206	0.0:0.1723:0.8277:0.0	.	362;325;325	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	T	362;325;325;300	ENSP00000355234:A325T;ENSP00000376048:A325T;ENSP00000440695:A300T	ENSP00000262624:A362T	A	+	1	0	MAG	40485193	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	6.220000	0.72237	2.469000	0.83416	0.455000	0.32223	GCA	MAG	-	NULL	ENSG00000105695		0.582	MAG-001	KNOWN	basic|CCDS	protein_coding	MAG	HGNC	protein_coding	OTTHUMT00000466071.1	154	0.00	0	G	NM_080600		35793353	35793353	+1	no_errors	ENST00000392213	ensembl	human	known	69_37n	missense	163	12.83	24	SNP	1.000	A
MAGEE1	57692	genome.wustl.edu	37	X	75649540	75649540	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:75649540C>A	ENST00000361470.2	+	1	1495	c.1217C>A	c.(1216-1218)cCt>cAt	p.P406H		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	406	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TCCGTGCTGCCTAACCCTGGT	0.617																																						dbGAP											0													59.0	37.0	45.0					X																	75649540		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1217C>A	X.37:g.75649540C>A	ENSP00000354912:p.Pro406His		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.P406H	ENST00000361470.2	37	c.1217	CCDS14433.1	X	.	.	.	.	.	.	.	.	.	.	C	11.36	1.614722	0.28712	.	.	ENSG00000198934	ENST00000361470	T	0.09255	3.0	1.95	1.95	0.26073	.	.	.	.	.	T	0.07098	0.0180	N	0.14661	0.345	0.09310	N	1	D	0.63046	0.992	B	0.43082	0.407	T	0.32534	-0.9903	9	0.45353	T	0.12	.	9.4545	0.38747	0.0:1.0:0.0:0.0	.	406	Q9HCI5	MAGE1_HUMAN	H	406	ENSP00000354912:P406H	ENSP00000354912:P406H	P	+	2	0	MAGEE1	75565944	0.002000	0.14202	0.002000	0.10522	0.003000	0.03518	1.683000	0.37638	0.874000	0.35823	0.506000	0.49869	CCT	MAGEE1	-	NULL	ENSG00000198934		0.617	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	86	0.00	0	C	NM_020932		75649540	75649540	+1	no_errors	ENST00000361470	ensembl	human	known	69_37n	missense	124	12.06	17	SNP	0.044	A
MAGEC3	139081	genome.wustl.edu	37	X	140984787	140984787	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:140984787C>A	ENST00000298296.1	+	7	1243	c.1243C>A	c.(1243-1245)Cct>Act	p.P415T	MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_Missense_Mutation_p.P117T|MAGEC3_ENST00000443323.2_Missense_Mutation_p.P37T|MAGEC3_ENST00000409007.1_Missense_Mutation_p.P117T|MAGEC3_ENST00000536088.1_Missense_Mutation_p.P117T	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	415	Pro-rich.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					tccccagagtcctcTAGACTC	0.582																																						dbGAP											0													27.0	24.0	25.0					X																	140984787		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1243C>A	X.37:g.140984787C>A	ENSP00000298296:p.Pro415Thr		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.P415T	ENST00000298296.1	37	c.1243	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	c	4.465	0.086223	0.08583	.	.	ENSG00000165509	ENST00000298296;ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T;T	0.03801	4.04;3.8;3.8;3.8;3.8	1.18	-1.35	0.09114	.	.	.	.	.	T	0.02267	0.0070	N	0.19112	0.55	0.09310	N	1	B;P	0.45531	0.02;0.86	B;B	0.33890	0.022;0.172	T	0.40534	-0.9558	9	0.46703	T	0.11	.	2.3335	0.04241	0.0:0.4002:0.3298:0.27	.	415;117	Q8TD91;Q3SYA7	MAGC3_HUMAN;.	T	415;117;37;117;117	ENSP00000298296:P415T;ENSP00000441107:P117T;ENSP00000438254:P37T;ENSP00000440444:P117T;ENSP00000386566:P117T	ENSP00000298296:P415T	P	+	1	0	MAGEC3	140812453	0.007000	0.16637	0.006000	0.13384	0.255000	0.26057	-1.037000	0.03557	-0.566000	0.06054	0.179000	0.17066	CCT	MAGEC3	-	NULL	ENSG00000165509		0.582	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	50	0.00	0	C	NM_138702		140984787	140984787	+1	no_errors	ENST00000298296	ensembl	human	known	69_37n	missense	36	20.00	9	SNP	0.006	A
MAMDC4	158056	genome.wustl.edu	37	9	139753231	139753231	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:139753231G>A	ENST00000317446.2	+	23	2932	c.2882G>A	c.(2881-2883)cGc>cAc	p.R961H	MAMDC4_ENST00000445819.1_Missense_Mutation_p.R1040H|MAMDC4_ENST00000485732.1_3'UTR	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		gccTGGCTGCGCAGCGAGCCT	0.662																																						dbGAP											0													13.0	16.0	15.0					9																	139753231		2175	4287	6462	-	-	-	SO:0001583	missense	0			AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.2882G>A	9.37:g.139753231G>A	ENSP00000319388:p.Arg961His			Missense_Mutation	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom	p.R1040H	ENST00000317446.2	37	c.3119	CCDS7010.1	9	.	.	.	.	.	.	.	.	.	.	.	15.87	2.961463	0.53400	.	.	ENSG00000177943	ENST00000317446;ENST00000445819	T;T	0.02216	4.39;4.39	5.05	1.97	0.26223	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.684478	0.13457	N	0.386472	T	0.06325	0.0163	M	0.67700	2.07	0.26466	N	0.97537	D;D	0.67145	0.996;0.996	D;P	0.63192	0.912;0.852	T	0.34428	-0.9829	10	0.41790	T	0.15	-27.6578	1.0374	0.01551	0.1795:0.1516:0.3573:0.3116	.	1040;961	Q6UXC1;Q6UXC1-2	AEGP_HUMAN;.	H	961;1040	ENSP00000319388:R961H;ENSP00000411339:R1040H	ENSP00000319388:R961H	R	+	2	0	MAMDC4	138873052	0.377000	0.25106	0.998000	0.56505	0.492000	0.33523	0.178000	0.16820	0.524000	0.28502	0.561000	0.74099	CGC	MAMDC4	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom	ENSG00000177943		0.662	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	MAMDC4	HGNC	protein_coding	OTTHUMT00000254642.3	22	0.00	0	G	NM_206920		139753231	139753231	+1	no_errors	ENST00000445819	ensembl	human	known	69_37n	missense	46	14.81	8	SNP	0.861	A
MAN1A1	4121	genome.wustl.edu	37	6	119501036	119501036	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:119501036A>T	ENST00000368468.3	-	13	2351	c.1910T>A	c.(1909-1911)cTt>cAt	p.L637H		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	637					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GATAGGGAGAAGATGTGCCTC	0.363																																					Ovarian(136;8 1825 12608 33541 47587)	dbGAP											0													97.0	97.0	97.0					6																	119501036		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1910T>A	6.37:g.119501036A>T	ENSP00000357453:p.Leu637His		E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.L637H	ENST00000368468.3	37	c.1910	CCDS5122.1	6	.	.	.	.	.	.	.	.	.	.	A	20.3	3.974367	0.74246	.	.	ENSG00000111885	ENST00000368468	T	0.73258	-0.73	5.76	4.61	0.57282	.	0.118143	0.64402	D	0.000013	T	0.72350	0.3449	M	0.79926	2.475	0.80722	D	1	D	0.54207	0.965	P	0.58391	0.838	T	0.76699	-0.2863	10	0.87932	D	0	-3.9971	6.1002	0.20043	0.688:0.0:0.312:0.0	.	637	P33908	MA1A1_HUMAN	H	637	ENSP00000357453:L637H	ENSP00000357453:L637H	L	-	2	0	MAN1A1	119542735	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	5.085000	0.64468	1.024000	0.39682	0.528000	0.53228	CTT	MAN1A1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47	ENSG00000111885		0.363	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A1	HGNC	protein_coding	OTTHUMT00000042015.1	110	0.00	0	A	NM_005907		119501036	119501036	-1	no_errors	ENST00000368468	ensembl	human	known	69_37n	missense	31	13.89	5	SNP	1.000	T
MAN2B2	23324	genome.wustl.edu	37	4	6610948	6610948	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:6610948G>A	ENST00000285599.3	+	12	1965	c.1929G>A	c.(1927-1929)gcG>gcA	p.A643A	MAN2B2_ENST00000504960.1_3'UTR|MAN2B2_ENST00000504248.1_Silent_p.A592A	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	643					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GCAAGGCCGCGGTGCCTGCGT	0.602																																						dbGAP											0													100.0	94.0	96.0					4																	6610948		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1929G>A	4.37:g.6610948G>A			Q66MP2|Q86T67	Missense_Mutation	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.R642Q	ENST00000285599.3	37	c.1925	CCDS33951.1	4	.	.	.	.	.	.	.	.	.	.	G	10.61	1.397399	0.25205	.	.	ENSG00000013288	ENST00000505907	.	.	.	4.25	-8.51	0.00923	.	.	.	.	.	T	0.35711	0.0941	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45323	-0.9269	4	.	.	.	-11.0517	2.6598	0.05023	0.4101:0.0986:0.0906:0.4007	.	.	.	.	Q	642	.	.	R	+	2	0	MAN2B2	6661849	0.000000	0.05858	0.000000	0.03702	0.584000	0.36387	-3.103000	0.00603	-3.306000	0.00191	-0.671000	0.03813	CGG	MAN2B2	-	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd	ENSG00000013288		0.602	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2B2	HGNC	protein_coding	OTTHUMT00000359106.2	302	0.00	0	G	NM_015274		6610948	6610948	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000505907	ensembl	human	known	69_37n	missense	327	13.26	50	SNP	0.000	A
MAN2B2	23324	genome.wustl.edu	37	4	6619136	6619136	+	Missense_Mutation	SNP	C	C	T	rs200356754	byFrequency	TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:6619136C>T	ENST00000285599.3	+	17	2767	c.2731C>T	c.(2731-2733)Cgc>Tgc	p.R911C	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R860C	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	911					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GGCTGACCTCCGCCGTGTCCT	0.597													C|||	3	0.000599042	0.0	0.0	5008	,	,		18206	0.0		0.001	False		,,,				2504	0.002					dbGAP											0													83.0	68.0	73.0					4																	6619136		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.2731C>T	4.37:g.6619136C>T	ENSP00000285599:p.Arg911Cys		Q66MP2|Q86T67	Missense_Mutation	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.R911C	ENST00000285599.3	37	c.2731	CCDS33951.1	4	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	8.874	0.949974	0.18431	.	.	ENSG00000013288	ENST00000285599;ENST00000504248	D;D	0.83914	-1.78;-1.78	4.88	-0.44	0.12261	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	1.327950	0.04637	N	0.404644	T	0.71660	0.3366	L	0.33485	1.01	0.09310	N	1	B;B;B	0.17852	0.013;0.024;0.003	B;B;B	0.14578	0.011;0.011;0.002	T	0.56238	-0.8012	10	0.54805	T	0.06	-4.9352	0.8588	0.01188	0.2169:0.336:0.2534:0.1937	.	860;911;911	E9PCD7;Q9Y2E5;Q9Y2E5-2	.;MA2B2_HUMAN;.	C	911;860	ENSP00000285599:R911C;ENSP00000423129:R860C	ENSP00000285599:R911C	R	+	1	0	MAN2B2	6670037	0.001000	0.12720	0.014000	0.15608	0.602000	0.36980	0.765000	0.26546	0.124000	0.18369	-0.137000	0.14449	CGC	MAN2B2	-	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd	ENSG00000013288		0.597	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2B2	HGNC	protein_coding	OTTHUMT00000359106.2	104	0.00	0	C	NM_015274		6619136	6619136	+1	no_errors	ENST00000285599	ensembl	human	known	69_37n	missense	131	11.41	17	SNP	0.003	T
MAPK7	5598	genome.wustl.edu	37	17	19284193	19284193	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:19284193C>T	ENST00000308406.5	+	4	1057	c.671C>T	c.(670-672)aCg>aTg	p.T224M	B9D1_ENST00000477478.2_5'Flank|MAPK7_ENST00000571657.1_Intron|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000299612.7_Missense_Mutation_p.T85M|B9D1_ENST00000468679.3_5'Flank|MAPK7_ENST00000395602.4_Missense_Mutation_p.T224M|MAPK7_ENST00000395604.3_Missense_Mutation_p.T224M|B9D1_ENST00000575403.1_5'Flank	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	224	Necessary for oligomerization. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TATGTGGCCACGCGCTGGTAC	0.542																																						dbGAP											0													85.0	73.0	77.0					17																	19284193		2203	4300	6503	-	-	-	SO:0001583	missense	0			U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.671C>T	17.37:g.19284193C>T	ENSP00000311005:p.Thr224Met		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T224M	ENST00000308406.5	37	c.671	CCDS11206.1	17	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252147	0.80135	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000443215;ENST00000395604;ENST00000395602	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	4.74	4.74	0.60224	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90055	0.6894	H	0.99764	4.76	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94411	0.7632	10	0.87932	D	0	-13.595	15.5975	0.76599	0.0:1.0:0.0:0.0	.	224	Q13164	MK07_HUMAN	M	224;85;224;224;224	ENSP00000311005:T224M;ENSP00000299612:T85M;ENSP00000412902:T224M;ENSP00000378968:T224M;ENSP00000378966:T224M	ENSP00000299612:T85M	T	+	2	0	MAPK7	19224786	1.000000	0.71417	0.942000	0.38095	0.905000	0.53344	7.592000	0.82676	2.335000	0.79485	0.561000	0.74099	ACG	MAPK7	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000166484		0.542	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK7	HGNC	protein_coding	OTTHUMT00000132506.1	182	0.00	0	C	NM_139033		19284193	19284193	+1	no_errors	ENST00000308406	ensembl	human	known	69_37n	missense	207	15.79	39	SNP	1.000	T
MAPK7	5598	genome.wustl.edu	37	17	19285139	19285139	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:19285139T>C	ENST00000308406.5	+	5	1909	c.1523T>C	c.(1522-1524)gTg>gCg	p.V508A	MAPK7_ENST00000571657.1_Intron|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000299612.7_Missense_Mutation_p.V369A|MAPK7_ENST00000395602.4_Missense_Mutation_p.V508A|MAPK7_ENST00000395604.3_Missense_Mutation_p.V508A	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	508	May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.|Nuclear localization signal. {ECO:0000250}.|Pro-rich.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CGGAAGCCGGTGACAGCCcag	0.677																																						dbGAP											0													11.0	21.0	18.0					17																	19285139		2172	4224	6396	-	-	-	SO:0001583	missense	0			U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.1523T>C	17.37:g.19285139T>C	ENSP00000311005:p.Val508Ala		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V508A	ENST00000308406.5	37	c.1523	CCDS11206.1	17	.	.	.	.	.	.	.	.	.	.	T	15.73	2.919159	0.52546	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.76968	-0.81;-1.06;-0.81;-0.81	4.36	4.36	0.52297	.	0.069216	0.56097	D	0.000021	T	0.74084	0.3670	L	0.40543	1.245	0.39042	D	0.960151	D	0.61080	0.989	P	0.48627	0.584	T	0.79037	-0.1967	10	0.87932	D	0	-17.7698	11.5673	0.50813	0.0:0.0:0.0:1.0	.	508	Q13164	MK07_HUMAN	A	508;369;508;508	ENSP00000311005:V508A;ENSP00000299612:V369A;ENSP00000378968:V508A;ENSP00000378966:V508A	ENSP00000299612:V369A	V	+	2	0	MAPK7	19225732	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	6.447000	0.73465	1.832000	0.53329	0.459000	0.35465	GTG	MAPK7	-	NULL	ENSG00000166484		0.677	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK7	HGNC	protein_coding	OTTHUMT00000132506.1	17	0.00	0	T	NM_139033		19285139	19285139	+1	no_errors	ENST00000308406	ensembl	human	known	69_37n	missense	44	24.59	15	SNP	1.000	C
MARS	4141	genome.wustl.edu	37	12	57883310	57883310	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:57883310T>C	ENST00000262027.5	+	4	517	c.383T>C	c.(382-384)tTg>tCg	p.L128S	ARHGAP9_ENST00000393797.2_5'Flank|ARHGAP9_ENST00000550288.1_5'Flank|MARS_ENST00000315473.5_5'UTR|MARS_ENST00000447721.2_Intron	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	128	GST C-terminal.				gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GACCACAGCTTGAGTCGTCAG	0.507																																						dbGAP											0													136.0	126.0	129.0					12																	57883310		2203	4300	6503	-	-	-	SO:0001583	missense	0			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.383T>C	12.37:g.57883310T>C	ENSP00000262027:p.Leu128Ser		B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.L128S	ENST00000262027.5	37	c.383	CCDS8942.1	12	.	.	.	.	.	.	.	.	.	.	T	14.54	2.565915	0.45694	.	.	ENSG00000166986	ENST00000262027	T	0.77489	-1.1	5.1	3.94	0.45596	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.64402	D	0.000004	D	0.86121	0.5857	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.86445	0.1769	10	0.87932	D	0	-8.0039	10.5793	0.45246	0.1448:0.0:0.0:0.8552	.	128	P56192	SYMC_HUMAN	S	128	ENSP00000262027:L128S	ENSP00000262027:L128S	L	+	2	0	MARS	56169577	1.000000	0.71417	0.589000	0.28718	0.110000	0.19582	5.753000	0.68736	0.875000	0.35847	-0.333000	0.08304	TTG	MARS	-	superfamily_Glutathione-S-Trfase_C-like	ENSG00000166986		0.507	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS	HGNC	protein_coding	OTTHUMT00000407014.1	532	0.00	0	T	NM_004990		57883310	57883310	+1	no_errors	ENST00000262027	ensembl	human	known	69_37n	missense	502	12.24	70	SNP	0.998	C
MATK	4145	genome.wustl.edu	37	19	3778300	3778300	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:3778300G>A	ENST00000310132.6	-	14	1803	c.1405C>T	c.(1405-1407)Cca>Tca	p.P469S	MATK_ENST00000585778.1_Missense_Mutation_p.P468S|MATK_ENST00000395040.2_Missense_Mutation_p.P428S|MATK_ENST00000395045.2_Missense_Mutation_p.P470S	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	469	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			ARRPPFRKLAEKLARELRSAGAPASVSGQDADGSTSPRSQE P -> PAGHPSANWPRSWPGSYAVQVPQPPSQGRTPTVHLA PKPGALTPPGGPWPQRTERVESAAWGH (in Ref. 1; AAA16703). {ECO:0000305}.	cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGAAGGGTGGCCGGCGGGCG	0.721																																						dbGAP											0													18.0	21.0	20.0					19																	3778300		2190	4264	6454	-	-	-	SO:0001583	missense	0			L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.1405C>T	19.37:g.3778300G>A	ENSP00000308734:p.Pro469Ser		B3KNZ9|Q9NST8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.P470S	ENST00000310132.6	37	c.1408	CCDS12114.1	19	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351001	0.41599	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	D;D;D	0.87029	-2.2;-2.2;-2.2	3.68	2.64	0.31445	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.073949	0.56097	D	0.000036	D	0.95701	0.8602	H	0.98487	4.245	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95951	0.8954	10	0.87932	D	0	-23.8183	12.2972	0.54854	0.0:0.1722:0.8278:0.0	.	469;470;469	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	S	470;469;428	ENSP00000378485:P470S;ENSP00000308734:P469S;ENSP00000378481:P428S	ENSP00000308734:P469S	P	-	1	0	MATK	3729300	1.000000	0.71417	0.012000	0.15200	0.020000	0.10135	9.509000	0.98002	0.754000	0.32968	-0.218000	0.12543	CCA	MATK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000007264		0.721	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	MATK	HGNC	protein_coding	OTTHUMT00000453639.1	15	0.00	0	G	NM_139355		3778300	3778300	-1	no_errors	ENST00000395045	ensembl	human	known	69_37n	missense	21	32.26	10	SNP	0.998	A
MCM2	4171	genome.wustl.edu	37	3	127336831	127336831	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:127336831G>A	ENST00000265056.7	+	12	2164	c.1920G>A	c.(1918-1920)tcG>tcA	p.S640S	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	640	MCM.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						ACGACCCCTCGCTGACTTTCT	0.592																																						dbGAP											0													96.0	70.0	79.0					3																	127336831		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1920G>A	3.37:g.127336831G>A			Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,prints_MCM_2,prints_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase	p.R572H	ENST00000265056.7	37	c.1715	CCDS3043.1	3	.	.	.	.	.	.	.	.	.	.	G	4.931	0.173042	0.09391	.	.	ENSG00000073111	ENST00000491422	.	.	.	5.83	-11.7	0.00046	.	.	.	.	.	T	0.48696	0.1514	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65372	-0.6184	4	.	.	.	-8.9011	11.3041	0.49325	0.2514:0.2679:0.4808:0.0	.	.	.	.	H	572	.	.	R	+	2	0	MCM2	128819521	0.000000	0.05858	0.160000	0.22671	0.551000	0.35334	-2.503000	0.00965	-3.018000	0.00270	-0.948000	0.02665	CGC	MCM2	-	pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase	ENSG00000073111		0.592	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM2	HGNC	protein_coding	OTTHUMT00000356612.1	151	0.00	0	G			127336831	127336831	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000491422	ensembl	human	novel	69_37n	missense	191	12.73	28	SNP	0.023	A
MCM6	4175	genome.wustl.edu	37	2	136605665	136605665	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:136605665C>G	ENST00000264156.2	-	14	2071	c.2011G>C	c.(2011-2013)Gag>Cag	p.E671Q	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	671					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		ATCTGGATCTCTTCCTCTTGA	0.428																																					Ovarian(196;141 2104 8848 24991 25939)	dbGAP											0													220.0	176.0	191.0					2																	136605665		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.2011G>C	2.37:g.136605665C>G	ENSP00000264156:p.Glu671Gln		B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_6,prints_MCM_DNA-dep_ATPase	p.E671Q	ENST00000264156.2	37	c.2011	CCDS2179.1	2	.	.	.	.	.	.	.	.	.	.	C	18.42	3.621036	0.66787	.	.	ENSG00000076003	ENST00000264156	T	0.11495	2.77	5.56	5.56	0.83823	.	0.187557	0.56097	D	0.000033	T	0.13713	0.0332	L	0.52126	1.63	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09122	-1.0689	10	0.21540	T	0.41	-11.1792	19.5248	0.95199	0.0:1.0:0.0:0.0	.	671	Q14566	MCM6_HUMAN	Q	671	ENSP00000264156:E671Q	ENSP00000264156:E671Q	E	-	1	0	MCM6	136322135	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.784000	0.62411	2.604000	0.88044	0.585000	0.79938	GAG	MCM6	-	NULL	ENSG00000076003		0.428	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM6	HGNC	protein_coding	OTTHUMT00000254658.1	417	0.00	0	C	NM_005915		136605665	136605665	-1	no_errors	ENST00000264156	ensembl	human	known	69_37n	missense	79	19.39	19	SNP	1.000	G
MCOLN1	57192	genome.wustl.edu	37	19	7594494	7594494	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:7594494C>T	ENST00000264079.6	+	11	1380	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	419					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGCCACACTGCGGGTGGCCCT	0.642																																						dbGAP											0													118.0	87.0	98.0					19																	7594494		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1255C>T	19.37:g.7594494C>T	ENSP00000264079:p.Arg419Trp		D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF	p.R419W	ENST00000264079.6	37	c.1255	CCDS12180.1	19	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997457	0.74818	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.70749	-0.51	5.47	4.43	0.53597	Polycystin cation channel, PKD1/PKD2 (1);	0.055769	0.85682	D	0.000000	D	0.83166	0.5195	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.982;0.987	D	0.85149	0.0985	10	0.66056	D	0.02	.	13.5754	0.61870	0.1562:0.8438:0.0:0.0	.	384;419	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	W	419;384	ENSP00000264079:R419W	ENSP00000264079:R419W	R	+	1	2	MCOLN1	7500494	0.145000	0.22656	1.000000	0.80357	0.729000	0.41735	0.479000	0.22228	1.305000	0.44909	0.561000	0.74099	CGG	MCOLN1	-	pfam_PKD1_2_channel	ENSG00000090674		0.642	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN1	HGNC	protein_coding	OTTHUMT00000458974.2	324	0.00	0	C	NM_020533		7594494	7594494	+1	no_errors	ENST00000264079	ensembl	human	known	69_37n	missense	399	24.43	129	SNP	1.000	T
MECOM	2122	genome.wustl.edu	37	3	168833257	168833257	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:168833257delT	ENST00000464456.1	-	7	3039	c.1839delA	c.(1837-1839)aaafs	p.K613fs	MECOM_ENST00000264674.3_Frame_Shift_Del_p.K678fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.K614fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.K801fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.K613fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.K613fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.K614fs|MECOM_ENST00000460814.1_Frame_Shift_Del_p.K613fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	22					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G614fs*30(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CGTTGCTTCCTTTTTTTCCCC	0.498																																						dbGAP											2	Deletion - Frameshift(2)	large_intestine(2)											121.0	110.0	114.0					3																	168833257		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1839delA	3.37:g.168833257delT	ENSP00000419770:p.Lys613fs		Q13466|Q6FH90	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.G802fs	ENST00000464456.1	37	c.2403	CCDS54669.1	3																																																																																			MECOM	-	NULL	ENSG00000085276		0.498	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351519.1	276	0.00	0	T	NM_005241, NM_004991		168833257	168833257	-1	no_errors	ENST00000494292	ensembl	human	known	69_37n	frame_shift_del	82	26.55	30	DEL	1.000	-
MED12	9968	genome.wustl.edu	37	X	70356304	70356304	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:70356304G>A	ENST00000374080.3	+	37	5231	c.5199G>A	c.(5197-5199)cgG>cgA	p.R1733R	MED12_ENST00000333646.6_Silent_p.R1733R|MED12_ENST00000374102.1_Silent_p.R1733R			Q93074	MED12_HUMAN	mediator complex subunit 12	1733	Interaction with CTNNB1 and GLI3.|Pro-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGAGGCCCCGGCCCCGCGCCT	0.642			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															dbGAP		Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													22.0	27.0	26.0					X																	70356304		1906	4103	6009	-	-	-	SO:0001819	synonymous_variant	0			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.5199G>A	X.37:g.70356304G>A			O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.R1733	ENST00000374080.3	37	c.5199	CCDS43970.1	X																																																																																			MED12	-	NULL	ENSG00000184634		0.642	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	56	0.00	0	G	NM_005120		70356304	70356304	+1	no_errors	ENST00000333646	ensembl	human	known	69_37n	silent	54	11.48	7	SNP	1.000	A
MED12L	116931	genome.wustl.edu	37	3	151131006	151131006	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:151131006C>A	ENST00000474524.1	+	40	6153	c.6115C>A	c.(6115-6117)Ctt>Att	p.L2039I	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2039	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACATCCAAACCTTCCCTCCGT	0.582																																						dbGAP											0													86.0	78.0	80.0					3																	151131006		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6115C>A	3.37:g.151131006C>A	ENSP00000417235:p.Leu2039Ile		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.L2039I	ENST00000474524.1	37	c.6115	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353693	0.82243	.	.	ENSG00000144893	ENST00000474524	T	0.57907	0.37	5.33	5.33	0.75918	.	0.260438	0.31709	N	0.007191	T	0.32526	0.0832	N	0.08118	0	0.80722	D	1	D	0.58268	0.982	B	0.43575	0.424	T	0.10405	-1.0631	10	0.26408	T	0.33	-14.9779	11.6312	0.51175	0.0:0.9162:0.0:0.0838	.	2039	Q86YW9	MD12L_HUMAN	I	2039	ENSP00000417235:L2039I	ENSP00000417235:L2039I	L	+	1	0	MED12L	152613696	1.000000	0.71417	0.814000	0.32528	0.993000	0.82548	5.219000	0.65262	2.495000	0.84180	0.655000	0.94253	CTT	MED12L	-	NULL	ENSG00000144893		0.582	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	121	0.00	0	C	NM_053002		151131006	151131006	+1	no_errors	ENST00000474524	ensembl	human	known	69_37n	missense	47	14.55	8	SNP	0.962	A
MEGF9	1955	genome.wustl.edu	37	9	123374811	123374811	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:123374811C>T	ENST00000373930.3	-	4	1061	c.950G>A	c.(949-951)tGt>tAt	p.C317Y	MEGF9_ENST00000426959.1_Missense_Mutation_p.C354Y	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	317	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						GCAGTTTAAACAAGCACCTAA	0.338																																						dbGAP											0													94.0	85.0	88.0					9																	123374811		1828	4090	5918	-	-	-	SO:0001583	missense	0			AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.950G>A	9.37:g.123374811C>T	ENSP00000363040:p.Cys317Tyr		B7Z315|O75098	Missense_Mutation	SNP	pfam_EGF_laminin,smart_EGF_laminin,smart_EGF-like,pfscan_EGF_laminin	p.C354Y	ENST00000373930.3	37	c.1061	CCDS48010.2	9	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964102	0.74131	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	D;D	0.94330	-3.4;-3.4	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.98131	0.9383	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99013	1.0815	10	0.87932	D	0	-8.0039	18.5149	0.90933	0.0:1.0:0.0:0.0	.	354	C9J1K8	.	Y	317;354	ENSP00000363040:C317Y;ENSP00000392666:C354Y	ENSP00000363040:C317Y	C	-	2	0	MEGF9	122414632	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	5.553000	0.67287	2.822000	0.97130	0.650000	0.86243	TGT	MEGF9	-	pfam_EGF_laminin,smart_EGF-like,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000106780		0.338	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF9	HGNC	protein_coding	OTTHUMT00000055513.1	114	0.00	0	C	NM_001080497		123374811	123374811	-1	no_errors	ENST00000426959	ensembl	human	known	69_37n	missense	46	23.33	14	SNP	1.000	T
MERTK	10461	genome.wustl.edu	37	2	112785991	112785991	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:112785991G>C	ENST00000295408.4	+	19	2807	c.2550G>C	c.(2548-2550)ttG>ttC	p.L850F	MERTK_ENST00000409780.1_Missense_Mutation_p.L674F|MERTK_ENST00000421804.2_Missense_Mutation_p.L850F			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	850	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TTTCAGTATTGAGGCTGCAGC	0.458																																						dbGAP											0													70.0	77.0	74.0					2																	112785991		2203	4300	6503	-	-	-	SO:0001583	missense	0			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2550G>C	2.37:g.112785991G>C	ENSP00000295408:p.Leu850Phe		Q9HBB4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L850F	ENST00000295408.4	37	c.2550	CCDS2094.1	2	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650387	0.67472	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	5.75	4.76	0.60689	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.27673	U	0.018334	D	0.94981	0.8376	H	0.97587	4.035	0.53688	D	0.999976	D	0.89917	1.0	D	0.85130	0.997	D	0.94745	0.7922	10	0.87932	D	0	-15.5919	7.2692	0.26248	0.1633:0.1601:0.6766:0.0	.	850	Q12866	MERTK_HUMAN	F	850;850;509;674;174	ENSP00000295408:L850F;ENSP00000389152:L850F;ENSP00000387277:L674F;ENSP00000412660:L174F	ENSP00000295408:L850F	L	+	3	2	MERTK	112502462	0.997000	0.39634	0.997000	0.53966	0.982000	0.71751	0.388000	0.20735	2.702000	0.92279	0.655000	0.94253	TTG	MERTK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000153208		0.458	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MERTK	HGNC	protein_coding	OTTHUMT00000254046.2	73	0.00	0	G			112785991	112785991	+1	no_errors	ENST00000295408	ensembl	human	known	69_37n	missense	32	31.91	15	SNP	0.980	C
MEX3A	92312	genome.wustl.edu	37	1	156047130	156047130	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:156047130G>A	ENST00000532414.2	-	2	797	c.798C>T	c.(796-798)ccC>ccT	p.P266P	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	266	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					TCTCGAACACGGGGTCGCGGT	0.622																																						dbGAP											0													117.0	142.0	133.0					1																	156047130		2184	4281	6465	-	-	-	SO:0001819	synonymous_variant	0			AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.798C>T	1.37:g.156047130G>A				Silent	SNP	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.P266	ENST00000532414.2	37	c.798	CCDS53377.1	1																																																																																			MEX3A	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000254726		0.622	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEX3A	HGNC	protein_coding	OTTHUMT00000046218.3	686	0.00	0	G	NM_001093725		156047130	156047130	-1	no_errors	ENST00000532414	ensembl	human	known	69_37n	silent	954	32.46	460	SNP	0.211	A
MFI2	4241	genome.wustl.edu	37	3	196736542	196736542	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:196736542C>T	ENST00000296350.5	-	11	1585	c.1472G>A	c.(1471-1473)gGt>gAt	p.G491D		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	491	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		AATAAGGGCACCCACGGGGAC	0.632																																						dbGAP											0													47.0	52.0	51.0					3																	196736542		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1472G>A	3.37:g.196736542C>T	ENSP00000296350:p.Gly491Asp		Q9BQE2	Missense_Mutation	SNP	pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60	p.G491D	ENST00000296350.5	37	c.1472	CCDS3325.1	3	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444674	0.63178	.	.	ENSG00000163975	ENST00000296350	T	0.59772	0.24	5.29	5.29	0.74685	.	0.182769	0.47455	D	0.000240	D	0.83954	0.5366	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89115	0.3499	10	0.72032	D	0.01	-40.4647	17.4997	0.87727	0.0:1.0:0.0:0.0	.	491	P08582	TRFM_HUMAN	D	491	ENSP00000296350:G491D	ENSP00000296350:G491D	G	-	2	0	MFI2	198220939	1.000000	0.71417	0.998000	0.56505	0.215000	0.24574	4.670000	0.61583	2.463000	0.83235	0.563000	0.77884	GGT	MFI2	-	pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin	ENSG00000163975		0.632	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MFI2	HGNC	protein_coding	OTTHUMT00000340458.1	45	0.00	0	C			196736542	196736542	-1	no_errors	ENST00000296350	ensembl	human	known	69_37n	missense	73	12.05	10	SNP	0.994	T
MFN2	9927	genome.wustl.edu	37	1	12064574	12064574	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:12064574T>C	ENST00000235329.5	+	13	1618	c.1296T>C	c.(1294-1296)acT>acC	p.T432T	MFN2_ENST00000444836.1_Silent_p.T432T	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	432					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGGTGTCGACTGCAATGGCCG	0.498																																						dbGAP											0													232.0	224.0	227.0					1																	12064574		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.1296T>C	1.37:g.12064574T>C			A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Silent	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase	p.T432	ENST00000235329.5	37	c.1296	CCDS30587.1	1																																																																																			MFN2	-	NULL	ENSG00000116688		0.498	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN2	HGNC	protein_coding	OTTHUMT00000006859.2	347	0.00	0	T	NM_014874		12064574	12064574	+1	no_errors	ENST00000235329	ensembl	human	known	69_37n	silent	346	15.61	64	SNP	0.005	C
MFSD4	148808	genome.wustl.edu	37	1	205548900	205548900	+	Silent	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:205548900C>A	ENST00000367147.4	+	2	345	c.252C>A	c.(250-252)gcC>gcA	p.A84A	MFSD4_ENST00000536357.1_Silent_p.A84A|MFSD4_ENST00000539267.1_Silent_p.A84A	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	84					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CACTATGGGCCCTGTTCACCT	0.637																																						dbGAP											0													173.0	148.0	156.0					1																	205548900		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.252C>A	1.37:g.205548900C>A			B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.A84	ENST00000367147.4	37	c.252	CCDS1455.1	1																																																																																			MFSD4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000174514		0.637	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD4	HGNC	protein_coding	OTTHUMT00000090391.1	579	0.00	0	C	NM_181644		205548900	205548900	+1	no_errors	ENST00000367147	ensembl	human	known	69_37n	silent	810	10.53	96	SNP	0.974	A
MICALL1	85377	genome.wustl.edu	37	22	38328625	38328625	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr22:38328625G>A	ENST00000215957.6	+	11	2208	c.2082G>A	c.(2080-2082)cgG>cgA	p.R694R	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	694	RAB-binding domain (RBD); mediates the interaction with RAB13 and RAB35 and intramolecular interaction with the CH domain.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TTGAGCGCCGGCTGGATGCCC	0.667																																						dbGAP											0													51.0	51.0	51.0					22																	38328625		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.2082G>A	22.37:g.38328625G>A			Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	pfam_DUF3585	p.A270T	ENST00000215957.6	37	c.808	CCDS13961.1	22	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633438	0.29068	.	.	ENSG00000100139	ENST00000454685	.	.	.	5.48	2.27	0.28462	.	.	.	.	.	T	0.54334	0.1852	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43180	-0.9407	4	.	.	.	.	6.4479	0.21887	0.2125:0.1298:0.6576:0.0	.	.	.	.	T	270	.	.	A	+	1	0	MICALL1	36658571	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.751000	0.38339	0.292000	0.22492	0.491000	0.48974	GCT	MICALL1	-	pfam_DUF3585	ENSG00000100139		0.667	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL1	HGNC	protein_coding	OTTHUMT00000319545.4	107	0.00	0	G	NM_033386		38328625	38328625	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000454685	ensembl	human	putative	69_37n	missense	134	13.55	21	SNP	1.000	A
MIR518F	574472	genome.wustl.edu	37	19	54200829	54200830	+	RNA	INS	-	-	A	rs80268200|rs375674711	byFrequency	TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:54200829_54200830insA	ENST00000384973.1	+	0	0				MIR525_ENST00000384978.1_RNA|MIR523_ENST00000385281.1_RNA|MIR519B_ENST00000385090.1_RNA	NR_030194.1				microRNA 518f																		TCTCTTATGTGAAAAAAAAGAA	0.421														37	0.00738818	0.0265	0.0014	5008	,	,		21933	0.0		0.0	False		,,,				2504	0.001					dbGAP											0										161,86,3721		2,1,156,4,77,1744						-0.4	0.0			80	4,0,7482		0,0,4,0,0,3739	no	intergenic				2,1,160,4,77,5483	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0534,6.2248,2.1914				165,86,11203				-	-	-			0					19q13.42	2011-09-12		2008-12-18	ENSG00000207706	ENSG00000207706		"""ncRNAs / Micro RNAs"""	32104	non-coding RNA	RNA, micro				MIRN518F			Standard	NR_030194		Approved	hsa-mir-518f	uc021uzx.1				19.37:g.54200837_54200837dupA				RNA	INS	-	NULL	ENST00000384973.1	37	NULL		19																																																																																			MIR525	-	-	ENSG00000207711		0.421	MIR518F-201	KNOWN	basic	miRNA	MIR525	HGNC	miRNA		177	0.00	0	-	NR_030194		54200829	54200830	+1	no_errors	ENST00000384978	ensembl	human	known	69_37n	rna	85	15.00	15	INS	0.002:0.007	A
MLF2	8079	genome.wustl.edu	37	12	6858087	6858087	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:6858087A>G	ENST00000203630.5	-	8	1265	c.621T>C	c.(619-621)cgT>cgC	p.R207R	MLF2_ENST00000542154.1_Silent_p.R207R|MLF2_ENST00000539187.1_Silent_p.R207R|MLF2_ENST00000435120.1_Silent_p.R207R|MLF2_ENST00000564181.1_5'Flank			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	207					defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(2)|large_intestine(3)|lung(4)	9						ACTCCAGGGGACGCTGCTGCC	0.692																																						dbGAP											0													16.0	16.0	16.0					12																	6858087		2183	4276	6459	-	-	-	SO:0001819	synonymous_variant	0			U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.621T>C	12.37:g.6858087A>G				Missense_Mutation	SNP	pfam_Myeloid_leukemia_factor	p.V218A	ENST00000203630.5	37	c.653	CCDS8559.1	12	.	.	.	.	.	.	.	.	.	.	A	4.652	0.121305	0.08881	.	.	ENSG00000089693	ENST00000537126	.	.	.	5.21	-0.592	0.11671	.	.	.	.	.	T	0.41488	0.1161	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29305	-1.0016	5	0.32370	T	0.25	.	1.2026	0.01888	0.4566:0.1701:0.1638:0.2096	.	.	.	.	A	218	.	ENSP00000439789:V218A	V	-	2	0	MLF2	6728348	0.994000	0.37717	0.997000	0.53966	0.006000	0.05464	0.159000	0.16442	-0.014000	0.14175	-1.345000	0.01243	GTC	MLF2	-	NULL	ENSG00000089693		0.692	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLF2	HGNC	protein_coding	OTTHUMT00000400733.2	21	0.00	0	A			6858087	6858087	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000537126	ensembl	human	putative	69_37n	missense	23	17.24	5	SNP	0.812	G
MLKL	197259	genome.wustl.edu	37	16	74726290	74726290	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:74726290A>G	ENST00000308807.7	-	3	948	c.485T>C	c.(484-486)cTg>cCg	p.L162P	MLKL_ENST00000306247.7_Missense_Mutation_p.L162P	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TAATCGTCTCAGTGAAGCTTC	0.358																																						dbGAP											0													140.0	122.0	128.0					16																	74726290		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.485T>C	16.37:g.74726290A>G	ENSP00000308351:p.Leu162Pro			Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L162P	ENST00000308807.7	37	c.485	CCDS32487.1	16	.	.	.	.	.	.	.	.	.	.	A	12.43	1.934719	0.34189	.	.	ENSG00000168404	ENST00000308807;ENST00000306247	T;T	0.79845	-1.31;2.38	2.4	2.4	0.29515	.	1.973700	0.03029	N	0.151840	D	0.83843	0.5342	L	0.34521	1.04	0.22050	N	0.999396	D;D	0.69078	0.997;0.996	D;P	0.67548	0.952;0.823	T	0.69525	-0.5122	10	0.72032	D	0.01	-1.9836	6.7221	0.23336	1.0:0.0:0.0:0.0	.	162;162	Q8NB16-2;Q8NB16	.;MLKL_HUMAN	P	162	ENSP00000308351:L162P;ENSP00000303118:L162P	ENSP00000303118:L162P	L	-	2	0	MLKL	73283791	0.018000	0.18449	0.008000	0.14137	0.002000	0.02628	2.588000	0.46137	1.361000	0.45981	0.459000	0.35465	CTG	MLKL	-	NULL	ENSG00000168404		0.358	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLKL	HGNC	protein_coding	OTTHUMT00000436403.3	189	0.00	0	A	NM_152649		74726290	74726290	-1	no_errors	ENST00000308807	ensembl	human	known	69_37n	missense	146	12.57	21	SNP	0.009	G
KMT2C	58508	genome.wustl.edu	37	7	151879585	151879586	+	Frame_Shift_Ins	INS	-	-	A	rs113759067		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:151879585_151879586insA	ENST00000262189.6	-	36	5577_5578	c.5359_5360insT	c.(5359-5361)caafs	p.Q1787fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.Q1787fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1787	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGAACCAAATtgctgttgttgc	0.441																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5359_5360insT	7.37:g.151879585_151879586insA	ENSP00000262189:p.Gln1787fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q1787fs	ENST00000262189.6	37	c.5360_5359	CCDS5931.1	7																																																																																			MLL3	-	NULL	ENSG00000055609		0.441	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	67	0.00	0	-			151879585	151879586	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	frame_shift_ins	10	23.08	3	INS	1.000:1.000	A
KMT2C	58508	genome.wustl.edu	37	7	151949160	151949161	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:151949160_151949161insGG	ENST00000262189.6	-	11	1702_1703	c.1484_1485insCC	c.(1483-1485)gagfs	p.E495fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.E495fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	495					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GTTTGTCACACTCTAGGTGAAC	0.386																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1484_1485insCC	7.37:g.151949160_151949161insGG	ENSP00000262189:p.Glu495fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E495fs	ENST00000262189.6	37	c.1485_1484	CCDS5931.1	7																																																																																			MLL3	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000055609		0.386	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	172	0.00	0	-			151949160	151949161	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	frame_shift_ins	32	11.11	4	INS	1.000:1.000	GG
MLLT4	4301	genome.wustl.edu	37	6	168348584	168348584	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:168348584C>T	ENST00000447894.2	+	27	3584	c.3584C>T	c.(3583-3585)gCg>gTg	p.A1195V	MLLT4_ENST00000392108.3_Missense_Mutation_p.A1195V|MLLT4_ENST00000366806.2_Missense_Mutation_p.A1195V|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000392112.1_Missense_Mutation_p.A1178V|MLLT4_ENST00000344191.4_Missense_Mutation_p.A1195V|MLLT4_ENST00000351017.4_Missense_Mutation_p.A1202V|MLLT4_ENST00000400822.3_Missense_Mutation_p.A1194V			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1195					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GGAACAACAGCGAAGATAACA	0.428			T	MLL	AL																																	dbGAP		Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0													96.0	87.0	90.0					6																	168348584		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3584C>T	6.37:g.168348584C>T	ENSP00000404595:p.Ala1195Val		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.A1195V	ENST00000447894.2	37	c.3584		6	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861887	0.51482	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04917	3.78;3.64;3.74;3.73;3.53;3.64;3.64	5.88	5.88	0.94601	.	0.202740	0.43260	D	0.000596	T	0.01940	0.0061	L	0.31294	0.92	0.24925	N	0.991959	B;B;B;B	0.16603	0.011;0.018;0.01;0.009	B;B;B;B	0.11329	0.003;0.006;0.004;0.004	T	0.38735	-0.9647	10	0.36615	T	0.2	-18.028	9.2378	0.37477	0.1461:0.7822:0.0:0.0717	.	1195;1194;1195;1179	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	V	1195;1202;1195;1195;1178;1195;1194;1195	ENSP00000341118:A1195V;ENSP00000252692:A1202V;ENSP00000375956:A1195V;ENSP00000355771:A1195V;ENSP00000375960:A1178V;ENSP00000383623:A1194V;ENSP00000404595:A1195V	ENSP00000345834:A1195V	A	+	2	0	MLLT4	168091433	0.981000	0.34729	0.313000	0.25210	0.906000	0.53458	2.957000	0.49137	2.782000	0.95742	0.655000	0.94253	GCG	MLLT4	-	NULL	ENSG00000130396		0.428	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	91	0.00	0	C	NM_005936		168348584	168348584	+1	no_errors	ENST00000366806	ensembl	human	known	69_37n	missense	38	11.36	5	SNP	0.607	T
MMP8	4317	genome.wustl.edu	37	11	102584181	102584182	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:102584181_102584182insA	ENST00000236826.3	-	10	1399_1400	c.1301_1302insT	c.(1300-1302)ttcfs	p.F434fs		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	434					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	TGAAGACATGGAAGAAATCTAT	0.351																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.1302dupT	11.37:g.102584183_102584183dupA	ENSP00000236826:p.Phe434fs		Q45F99	Frame_Shift_Ins	INS	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.H435fs	ENST00000236826.3	37	c.1302_1301	CCDS8320.1	11																																																																																			MMP8	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom	ENSG00000118113		0.351	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP8	HGNC	protein_coding	OTTHUMT00000395223.1	127	0.00	0	-	NM_002424		102584181	102584182	-1	no_errors	ENST00000236826	ensembl	human	known	69_37n	frame_shift_ins	16	15.79	3	INS	0.990:0.993	A
DPM1	8813	genome.wustl.edu	37	20	49575993	49575993	+	5'Flank	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:49575993C>A	ENST00000371588.5	-	0	0				MOCS3_ENST00000244051.1_Missense_Mutation_p.A205D|DPM1_ENST00000371583.5_5'Flank|DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000466152.1_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						TCTGCCAGTGCCTTGCGCTTC	0.592																																						dbGAP											0													55.0	51.0	52.0					20																	49575993		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49575993C>A	Exception_encountered		O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_MoeZ_MoeB,pfam_Rhodanese-like_dom,superfamily_Molybdenum_cofac_synth_MoeB,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.A205D	ENST00000371588.5	37	c.614	CCDS13434.1	20	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890973	0.91889	.	.	ENSG00000124217	ENST00000244051	T	0.32515	1.45	5.74	4.8	0.61643	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.72153	0.3425	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84481	0.0605	9	.	.	.	-14.9016	14.7596	0.69596	0.0:0.9306:0.0:0.0694	.	205	O95396	MOCS3_HUMAN	D	205	ENSP00000244051:A205D	.	A	+	2	0	MOCS3	49009400	1.000000	0.71417	0.993000	0.49108	0.966000	0.64601	7.347000	0.79356	1.438000	0.47492	0.561000	0.74099	GCC	MOCS3	-	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB	ENSG00000124217		0.592	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOCS3	HGNC	protein_coding	OTTHUMT00000079716.1	92	0.00	0	C	NM_003859		49575993	49575993	+1	no_errors	ENST00000244051	ensembl	human	known	69_37n	missense	138	20.23	35	SNP	1.000	A
MPDZ	8777	genome.wustl.edu	37	9	13219576	13219577	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:13219576_13219577insT	ENST00000319217.7	-	8	1314_1315	c.1067_1068insA	c.(1066-1068)actfs	p.T356fs	MPDZ_ENST00000381015.4_Frame_Shift_Ins_p.T356fs|MPDZ_ENST00000381022.2_Frame_Shift_Ins_p.T356fs|MPDZ_ENST00000546205.1_Frame_Shift_Ins_p.T356fs|MPDZ_ENST00000536827.1_Frame_Shift_Ins_p.T356fs|MPDZ_ENST00000447879.1_Frame_Shift_Ins_p.T356fs|MPDZ_ENST00000541718.1_Frame_Shift_Ins_p.T356fs	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	356					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CTGGTGTTGAAGTTGGGGATGA	0.426																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1067_1068insA	9.37:g.13219576_13219577insT	ENSP00000320006:p.Thr356fs		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Frame_Shift_Ins	INS	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.S357fs	ENST00000319217.7	37	c.1068_1067		9																																																																																			MPDZ	-	superfamily_PDZ	ENSG00000107186		0.426	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	459	0.00	0	-	NM_003829		13219576	13219577	-1	no_errors	ENST00000319217	ensembl	human	known	69_37n	frame_shift_ins	51	10.53	6	INS	0.001:0.024	T
MPDZ	8777	genome.wustl.edu	37	9	13219578	13219579	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:13219578_13219579insG	ENST00000319217.7	-	8	1312_1313	c.1065_1066insC	c.(1063-1068)ccaactfs	p.T356fs	MPDZ_ENST00000381015.4_Frame_Shift_Ins_p.T356fs|MPDZ_ENST00000381022.2_Frame_Shift_Ins_p.T356fs|MPDZ_ENST00000546205.1_Frame_Shift_Ins_p.T356fs|MPDZ_ENST00000536827.1_Frame_Shift_Ins_p.T356fs|MPDZ_ENST00000447879.1_Frame_Shift_Ins_p.T356fs|MPDZ_ENST00000541718.1_Frame_Shift_Ins_p.T356fs	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	356					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGTGTTGAAGTTGGGGATGAGG	0.421																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1065_1066insC	9.37:g.13219578_13219579insG	ENSP00000320006:p.Thr356fs		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Frame_Shift_Ins	INS	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.T355fs	ENST00000319217.7	37	c.1066_1065		9																																																																																			MPDZ	-	superfamily_PDZ	ENSG00000107186		0.421	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	463	0.00	0	-	NM_003829		13219578	13219579	-1	no_errors	ENST00000319217	ensembl	human	known	69_37n	frame_shift_ins	50	10.71	6	INS	0.000:0.000	G
C19orf53	28974	genome.wustl.edu	37	19	13882968	13882968	+	5'Flank	DEL	C	C	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:13882968delC	ENST00000588234.1	+	0	0				CTB-5E10.3_ENST00000586297.1_RNA|MRI1_ENST00000319545.8_Frame_Shift_Del_p.T281fs|CTB-5E10.3_ENST00000586894.1_RNA|C19orf53_ENST00000593274.1_5'Flank|CTB-5E10.3_ENST00000591826.1_RNA|MRI1_ENST00000040663.6_Frame_Shift_Del_p.T328fs	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53											breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			TTCGATGTCACCCCCCACGAC	0.557																																						dbGAP											0													116.0	102.0	107.0					19																	13882968		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			AF078852	CCDS12298.1	19p13.2	2011-11-24			ENSG00000104979	ENSG00000104979			24991	protein-coding gene	gene with protein product	"""leydig cell tumor 10 kDa protein homolog"""					11042152	Standard	NM_014047		Approved	HSPC023, LYDG10	uc002mxg.3	Q9UNZ5			19.37:g.13882968delC	Exception_encountered		B2R4J9	Frame_Shift_Del	DEL	pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d	p.H330fs	ENST00000588234.1	37	c.983	CCDS12298.1	19																																																																																			MRI1	-	pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d	ENSG00000037757		0.557	C19orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRI1	HGNC	protein_coding	OTTHUMT00000453621.1	184	0.00	0	C	NM_014047		13882968	13882968	+1	no_errors	ENST00000040663	ensembl	human	known	69_37n	frame_shift_del	239	13.00	36	DEL	1.000	-
MRPL55	128308	genome.wustl.edu	37	1	228295776	228295776	+	Intron	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:228295776G>T	ENST00000411464.2	-	3	820				MRPL55_ENST00000366736.1_Intron|MRPL55_ENST00000336300.5_Intron|MRPL55_ENST00000430433.1_Silent_p.A12A|MRPL55_ENST00000366731.5_Silent_p.A12A|MRPL55_ENST00000366746.3_Intron|MRPL55_ENST00000366734.1_Intron|MRPL55_ENST00000366738.1_Silent_p.A12A|MRPL55_ENST00000391867.3_Intron|MRPL55_ENST00000348259.5_Intron|MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000366741.1_Intron|MRPL55_ENST00000366732.1_Intron|MRPL55_ENST00000295008.4_Intron|MRPL55_ENST00000366740.1_Intron|MRPL55_ENST00000366739.1_Intron|MRPL55_ENST00000366742.1_Intron|MRPL55_ENST00000366735.1_Intron|MRPL55_ENST00000366747.3_Intron|MRPL55_ENST00000366744.1_Intron|MRPL55_ENST00000336520.3_Intron|C1orf35_ENST00000472617.1_5'Flank|MRPL55_ENST00000366733.1_Intron			Q7Z7F7	RM55_HUMAN	mitochondrial ribosomal protein L55						translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				GCCAGGAAGAGGCTGCCAGGC	0.612																																						dbGAP											0													18.0	23.0	22.0					1																	228295776		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AK056987	CCDS1567.1, CCDS44325.1	1q42.13	2012-09-13			ENSG00000162910	ENSG00000162910		"""Mitochondrial ribosomal proteins / large subunits"""	16686	protein-coding gene	gene with protein product		611859					Standard	NM_181463		Approved		uc001hrz.4	Q7Z7F7	OTTHUMG00000037965	ENST00000411464.2:c.26+159C>A	1.37:g.228295776G>T			Q5TBY3|Q5TBY6|Q6UWI8	Silent	SNP	pfam_Ribosomal_L55_mit	p.A12	ENST00000411464.2	37	c.36	CCDS1567.1	1																																																																																			MRPL55	-	NULL	ENSG00000162910		0.612	MRPL55-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRPL55	HGNC	protein_coding	OTTHUMT00000092808.1	26	0.00	0	G	XM_059233		228295776	228295776	-1	no_errors	ENST00000366731	ensembl	human	known	69_37n	silent	55	17.91	12	SNP	0.000	T
MSH3	4437	genome.wustl.edu	37	5	79970915	79970915	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:79970915delA	ENST00000265081.6	+	7	1221	c.1141delA	c.(1141-1143)aaafs	p.K383fs		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	383					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TGTTAGGGACAAAAAAAAGGG	0.348								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	dbGAP											0													142.0	146.0	144.0					5																	79970915		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.1141delA	5.37:g.79970915delA	ENSP00000265081:p.Lys383fs		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Frame_Shift_Del	DEL	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.K383fs	ENST00000265081.6	37	c.1141	CCDS34195.1	5																																																																																			MSH3	-	pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_connt	ENSG00000113318		0.348	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	HGNC	protein_coding	OTTHUMT00000369471.1	144	0.00	0	A	NM_002439		79970915	79970915	+1	no_errors	ENST00000265081	ensembl	human	known	69_37n	frame_shift_del	47	14.55	8	DEL	0.982	-
MSH6	2956	genome.wustl.edu	37	2	48030639	48030640	+	Frame_Shift_Ins	INS	-	-	CC	rs267608087|rs267608078|rs587782425		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:48030639_48030640insCC	ENST00000234420.5	+	5	3405_3406	c.3253_3254insCC	c.(3253-3255)accfs	p.T1085fs	MSH6_ENST00000538136.1_Frame_Shift_Ins_p.T783fs|MSH6_ENST00000540021.1_Frame_Shift_Ins_p.T955fs|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1085					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)|p.F1088fs*5(1)|p.F1088fs*2(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCCGGAAGATACCCCCCCCTTC	0.436			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													dbGAP	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	4	Whole gene deletion(2)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)								0,22,4244		0,0,0,0,22,2111				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		1.8	0.1		dbSNP_130	121	1,13,8240		0,0,1,0,13,4113	no	codingComplex	MSH6	NM_000179.2		0,0,1,0,35,6224	A1A1,A1A2,A1R,A2A2,A2R,RR		0.1696,0.5157,0.2875				1,35,12484				-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3260_3261dupCC	2.37:g.48030646_48030647dupCC	ENSP00000234420:p.Thr1085fs		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Frame_Shift_Ins	INS	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_PWWP,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP	p.F1088fs	ENST00000234420.5	37	c.3253_3254	CCDS1836.1	2																																																																																			MSH6	-	pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_Msh6	ENSG00000116062		0.436	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4	311	0.00	0	-	NM_000179		48030639	48030640	+1	no_errors	ENST00000234420	ensembl	human	known	69_37n	frame_shift_ins	56	11.11	7	INS	0.001:0.003	CC
MSL3P1	151507	genome.wustl.edu	37	2	234774858	234774858	+	RNA	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:234774858G>A	ENST00000438684.1	-	0	1256					NR_024322.1		P0C860	MS3L2_HUMAN	male-specific lethal 3 homolog (Drosophila) pseudogene 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											AGAAGTCATCGTGGTATTCTG	0.433																																						dbGAP											0													120.0	100.0	106.0					2																	234774858		692	1591	2283	-	-	-			0			BI831020		2q37.1	2011-03-21	2011-03-21	2011-03-21	ENSG00000224287	ENSG00000224287			17837	pseudogene	pseudogene			"""male-specific lethal 3-like 2 (Drosophila)"""	MSL3L2			Standard	NR_024322		Approved		uc010znf.2	P0C860	OTTHUMG00000059126		2.37:g.234774858G>A				RNA	SNP	-	NULL	ENST00000438684.1	37	NULL		2																																																																																			MSL3P1	-	-	ENSG00000224287		0.433	MSL3P1-002	KNOWN	basic	processed_transcript	MSL3P1	HGNC	pseudogene	OTTHUMT00000131002.2	166	0.00	0	G	NR_024322		234774858	234774858	-1	no_errors	ENST00000438684	ensembl	human	known	69_37n	rna	192	10.28	22	SNP	0.994	A
SNED1	25992	genome.wustl.edu	37	2	242026897	242026897	+	Intron	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:242026897C>A	ENST00000310397.8	+	30	4205				MTERFD2_ENST00000464344.2_Intron|SNED1_ENST00000405547.3_Intron|SNED1_ENST00000342631.6_Intron	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		ACAGGTGCCTCTGGGGAGCAG	0.577																																						dbGAP											0													29.0	30.0	30.0					2																	242026897		1930	4113	6043	-	-	-	SO:0001627	intron_variant	0			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.4205+7C>A	2.37:g.242026897C>A			B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	RNA	SNP	-	NULL	ENST00000310397.8	37	NULL	CCDS46562.1	2																																																																																			MTERFD2	-	-	ENSG00000122085		0.577	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MTERFD2	HGNC	protein_coding	OTTHUMT00000323935.2	52	0.00	0	C	XM_059482		242026897	242026897	-1	no_errors	ENST00000455202	ensembl	human	known	69_37n	rna	51	32.89	25	SNP	0.000	A
MTHFR	4524	genome.wustl.edu	37	1	11854495	11854495	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:11854495C>T	ENST00000376592.1	-	7	1395	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K	MTHFR_ENST00000376585.1_Missense_Mutation_p.E464K|MTHFR_ENST00000376583.3_Missense_Mutation_p.E464K|MTHFR_ENST00000376590.3_Missense_Mutation_p.E423K			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	423					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	GTCAGCTCCTCCCCCCACATC	0.532																																						dbGAP											0													99.0	110.0	106.0					1																	11854495		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1267G>A	1.37:g.11854495C>T	ENSP00000365777:p.Glu423Lys		B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	pfam_Mehydrof_redctse,tigrfam_Fadh2_euk	p.E464K	ENST00000376592.1	37	c.1390	CCDS137.1	1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637692	0.47049	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72	5.02	2.99	0.34606	.	0.327508	0.35903	N	0.002915	T	0.60327	0.2260	L	0.51422	1.61	0.42524	D	0.993011	B;B	0.13594	0.001;0.008	B;B	0.15484	0.002;0.013	T	0.56438	-0.7979	10	0.32370	T	0.25	.	8.3401	0.32239	0.0:0.6382:0.2794:0.0823	.	423;464	P42898;Q5SNW6	MTHR_HUMAN;.	K	423;464;423;464	ENSP00000365777:E423K;ENSP00000365767:E464K;ENSP00000365775:E423K;ENSP00000365770:E464K	ENSP00000365767:E464K	E	-	1	0	MTHFR	11777082	0.973000	0.33851	0.999000	0.59377	0.953000	0.61014	2.313000	0.43735	1.231000	0.43661	0.455000	0.32223	GAG	MTHFR	-	NULL	ENSG00000177000		0.532	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MTHFR	HGNC	protein_coding	OTTHUMT00000006538.1	133	0.00	0	C	NM_005957		11854495	11854495	-1	no_errors	ENST00000376583	ensembl	human	known	69_37n	missense	157	13.11	24	SNP	1.000	T
MTL5	9633	genome.wustl.edu	37	11	68517942	68517942	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:68517942C>T	ENST00000255087.5	-	2	370	c.187G>A	c.(187-189)Gtc>Atc	p.V63I	MTL5_ENST00000443940.2_Missense_Mutation_p.V63I|MTL5_ENST00000544963.1_Missense_Mutation_p.V63I|MTL5_ENST00000540869.1_5'Flank	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	63					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GCGTGCAGGACGGGTTCCTTG	0.682																																						dbGAP											0													21.0	17.0	18.0					11																	68517942		2198	4286	6484	-	-	-	SO:0001583	missense	0			U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.187G>A	11.37:g.68517942C>T	ENSP00000255087:p.Val63Ile		A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Missense_Mutation	SNP	pfam_TCR,superfamily_Thionin	p.V63I	ENST00000255087.5	37	c.187	CCDS8184.1	11	.	.	.	.	.	.	.	.	.	.	c	9.438	1.087417	0.20390	.	.	ENSG00000132749	ENST00000255087;ENST00000443940;ENST00000544963	T;T;T	0.44083	1.53;0.93;1.51	4.25	3.34	0.38264	.	0.216168	0.23295	N	0.049750	T	0.22820	0.0551	N	0.08118	0	0.09310	N	1	B;B;B	0.14012	0.009;0.009;0.005	B;B;B	0.08055	0.003;0.003;0.001	T	0.20672	-1.0268	10	0.62326	D	0.03	-4.6233	10.1239	0.42639	0.0:0.204:0.796:0.0	.	63;46;63	Q9Y4I5-3;Q6PHY4;Q9Y4I5	.;.;MTL5_HUMAN	I	63	ENSP00000255087:V63I;ENSP00000403086:V63I;ENSP00000440968:V63I	ENSP00000255087:V63I	V	-	1	0	MTL5	68274518	0.014000	0.17966	0.105000	0.21289	0.004000	0.04260	0.027000	0.13621	1.015000	0.39444	-0.714000	0.03626	GTC	MTL5	-	NULL	ENSG00000132749		0.682	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTL5	HGNC	protein_coding	OTTHUMT00000396844.1	29	0.00	0	C	NM_004923		68517942	68517942	-1	no_errors	ENST00000255087	ensembl	human	known	69_37n	missense	26	38.10	16	SNP	0.220	T
MTMR4	9110	genome.wustl.edu	37	17	56581521	56581521	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:56581521A>G	ENST00000323456.5	-	14	1670	c.1546T>C	c.(1546-1548)Tgt>Cgt	p.C516R	MTMR4_ENST00000579925.1_Intron	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	516	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTCGCTCACAGGGGTTGTTG	0.547																																						dbGAP											0													138.0	133.0	135.0					17																	56581521		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1546T>C	17.37:g.56581521A>G	ENSP00000325285:p.Cys516Arg		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-specificity_Pase	p.C516R	ENST00000323456.5	37	c.1546	CCDS11608.1	17	.	.	.	.	.	.	.	.	.	.	A	5.173	0.217420	0.09810	.	.	ENSG00000108389	ENST00000323456	D	0.92048	-2.96	5.81	5.81	0.92471	Myotubularin phosphatase domain (1);	0.221258	0.49916	D	0.000125	T	0.81777	0.4894	N	0.03294	-0.36	0.58432	D	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.77153	-0.2692	10	0.21540	T	0.41	.	15.3471	0.74346	1.0:0.0:0.0:0.0	.	516	Q9NYA4	MTMR4_HUMAN	R	516	ENSP00000325285:C516R	ENSP00000325285:C516R	C	-	1	0	MTMR4	53936520	0.927000	0.31430	1.000000	0.80357	0.996000	0.88848	3.344000	0.52174	2.221000	0.72209	0.383000	0.25322	TGT	MTMR4	-	NULL	ENSG00000108389		0.547	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR4	HGNC	protein_coding	OTTHUMT00000444721.1	160	0.00	0	A	NM_004687		56581521	56581521	-1	no_errors	ENST00000323456	ensembl	human	known	69_37n	missense	81	10.00	9	SNP	0.970	G
MUC16	94025	genome.wustl.edu	37	19	9028274	9028274	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:9028274A>G	ENST00000397910.4	-	11	36721	c.36518T>C	c.(36517-36519)aTc>aCc	p.I12173T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12175	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGCTCCTGGATGCCATTTGT	0.577																																						dbGAP											0													225.0	220.0	222.0					19																	9028274		2048	4189	6237	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36518T>C	19.37:g.9028274A>G	ENSP00000381008:p.Ile12173Thr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.I12173T	ENST00000397910.4	37	c.36518	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	A	1.982	-0.433992	0.04669	.	.	ENSG00000181143	ENST00000397910	T	0.44881	0.91	2.66	1.6	0.23607	.	.	.	.	.	T	0.34919	0.0914	L	0.57536	1.79	.	.	.	P	0.50528	0.936	B	0.41236	0.351	T	0.46048	-0.9219	8	0.87932	D	0	.	4.7309	0.12964	0.8428:0.0:0.1572:0.0	.	12173	B5ME49	.	T	12173	ENSP00000381008:I12173T	ENSP00000381008:I12173T	I	-	2	0	MUC16	8889274	0.357000	0.24938	0.004000	0.12327	0.004000	0.04260	2.674000	0.46867	0.391000	0.25143	0.383000	0.25322	ATC	MUC16	-	pfam_SEA,smart_SEA	ENSG00000181143		0.577	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	337	0.00	0	A	NM_024690		9028274	9028274	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	199	10.31	23	SNP	0.005	G
MUC16	94025	genome.wustl.edu	37	19	9048771	9048771	+	Missense_Mutation	SNP	A	A	G	rs565447432		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:9048771A>G	ENST00000397910.4	-	5	33063	c.32860T>C	c.(32860-32862)Ttt>Ctt	p.F10954L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10956	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAAGAGAAAAAGTCAGAATT	0.483													A|||	1	0.000199681	0.0008	0.0	5008	,	,		23799	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													142.0	131.0	134.0					19																	9048771		1916	4124	6040	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32860T>C	19.37:g.9048771A>G	ENSP00000381008:p.Phe10954Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.F10954L	ENST00000397910.4	37	c.32860	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	a	7.080	0.570084	0.13560	.	.	ENSG00000181143	ENST00000397910	T	0.02446	4.29	3.5	-7.0	0.01599	.	.	.	.	.	T	0.00784	0.0026	N	0.00538	-1.39	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.51140	-0.8743	8	0.87932	D	0	.	1.3695	0.02207	0.2002:0.1222:0.3337:0.344	.	10954	B5ME49	.	L	10954	ENSP00000381008:F10954L	ENSP00000381008:F10954L	F	-	1	0	MUC16	8909771	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.389000	0.00126	-2.474000	0.00527	-1.535000	0.00915	TTT	MUC16	-	NULL	ENSG00000181143		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	253	0.78	2	A	NM_024690		9048771	9048771	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	110	12.70	16	SNP	0.000	G
MUC4	4585	genome.wustl.edu	37	3	195516770	195516770	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:195516770C>T	ENST00000463781.3	-	2	2140	c.1681G>A	c.(1681-1683)Gca>Aca	p.A561T	MUC4_ENST00000475231.1_Missense_Mutation_p.A561T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	566					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGGCGCCTGCCCCTGTTGTT	0.547																																						dbGAP											0													220.0	218.0	218.0					3																	195516770		1953	4118	6071	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1681G>A	3.37:g.195516770C>T	ENSP00000417498:p.Ala561Thr		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.A561T	ENST00000463781.3	37	c.1681	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	5.062	0.197166	0.09599	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.49139	0.79;0.8	2.04	-4.09	0.03951	.	.	.	.	.	T	0.23249	0.0562	L	0.29908	0.895	0.09310	N	1	B;B	0.21225	0.053;0.027	B;B	0.15484	0.013;0.003	T	0.33343	-0.9872	9	0.06625	T	0.88	.	2.7564	0.05294	0.3258:0.2989:0.0:0.3753	.	561;566	E7ESK3;Q99102	.;MUC4_HUMAN	T	561;561;535	ENSP00000417498:A561T;ENSP00000420243:A561T	ENSP00000376209:A535T	A	-	1	0	MUC4	197001165	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.175000	0.09825	-1.453000	0.01928	0.430000	0.28490	GCA	MUC4	-	NULL	ENSG00000145113		0.547	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	113	0.00	0	C	NM_018406		195516770	195516770	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	189	13.30	29	SNP	0.000	T
MUC6	4588	genome.wustl.edu	37	11	1026075	1026075	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:1026075G>A	ENST00000421673.2	-	21	2663	c.2613C>T	c.(2611-2613)taC>taT	p.Y871Y		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	871	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCCCTCCCCGTAGAGGGTGC	0.662																																						dbGAP											0													34.0	40.0	38.0					11																	1026075		2163	4243	6406	-	-	-	SO:0001819	synonymous_variant	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.2613C>T	11.37:g.1026075G>A			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.Y871	ENST00000421673.2	37	c.2613	CCDS44513.1	11																																																																																			MUC6	-	pfam_VWF_type-D,smart_VWC_out,smart_VWF_type-D	ENSG00000184956		0.662	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	212	0.47	1	G	XM_290540		1026075	1026075	-1	no_errors	ENST00000421673	ensembl	human	known	69_37n	silent	225	26.62	82	SNP	0.986	A
MUC7	4589	genome.wustl.edu	37	4	71346953	71346953	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:71346953C>G	ENST00000304887.5	+	3	682	c.492C>G	c.(490-492)gaC>gaG	p.D164E	MUC7_ENST00000456088.1_Missense_Mutation_p.D164E|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000413702.1_Missense_Mutation_p.D164E	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	164	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CTCCACAAGACACCACAGCTG	0.522																																						dbGAP											0													294.0	254.0	268.0					4																	71346953		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.492C>G	4.37:g.71346953C>G	ENSP00000302021:p.Asp164Glu		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	NULL	p.D164E	ENST00000304887.5	37	c.492	CCDS3541.1	4	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.789813	0.00623	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.47528	0.84;0.84;0.84	2.06	-4.12	0.03916	.	.	.	.	.	T	0.19765	0.0475	N	0.04880	-0.145	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.18808	-1.0325	8	.	.	.	4.859	5.9935	0.19480	0.4553:0.2706:0.2741:0.0	.	164	Q8TAX7	MUC7_HUMAN	E	164	ENSP00000407422:D164E;ENSP00000400585:D164E;ENSP00000302021:D164E	.	D	+	3	2	MUC7	71381542	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-4.322000	0.00253	-1.682000	0.01446	-0.150000	0.13652	GAC	MUC7	-	NULL	ENSG00000171195		0.522	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC7	HGNC	protein_coding	OTTHUMT00000252168.2	837	0.00	0	C	NM_152291		71346953	71346953	+1	no_errors	ENST00000304887	ensembl	human	known	69_37n	missense	454	10.78	55	SNP	0.003	G
MUC7	4589	genome.wustl.edu	37	4	71347363	71347363	+	Missense_Mutation	SNP	A	A	C	rs570643127		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:71347363A>C	ENST00000304887.5	+	3	1092	c.902A>C	c.(901-903)cAa>cCa	p.Q301P	MUC7_ENST00000456088.1_Missense_Mutation_p.Q301P|MUC7_ENST00000413702.1_Missense_Mutation_p.Q301P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	301	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCAGCTCCACAAGAGACCACA	0.557													-|||	1	0.000199681	0.0	0.0	5008	,	,		22478	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													367.0	340.0	349.0					4																	71347363		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.902A>C	4.37:g.71347363A>C	ENSP00000302021:p.Gln301Pro		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	NULL	p.Q301P	ENST00000304887.5	37	c.902	CCDS3541.1	4	.	.	.	.	.	.	.	.	.	.	-	1.035	-0.680684	0.03353	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.49720	0.77;0.77;0.77	2.44	-4.89	0.03103	.	.	.	.	.	T	0.16642	0.0400	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	8	.	.	.	.	2.9153	0.05750	0.5613:0.1913:0.1373:0.1102	.	301	Q8TAX7	MUC7_HUMAN	P	301	ENSP00000407422:Q301P;ENSP00000400585:Q301P;ENSP00000302021:Q301P	.	Q	+	2	0	MUC7	71381952	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-4.083000	0.00298	-2.089000	0.00860	-1.372000	0.01188	CAA	MUC7	-	NULL	ENSG00000171195		0.557	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC7	HGNC	protein_coding	OTTHUMT00000252168.2	1072	0.56	6	A	NM_152291		71347363	71347363	+1	no_errors	ENST00000304887	ensembl	human	known	69_37n	missense	758	16.00	145	SNP	0.000	C
MUSK	4593	genome.wustl.edu	37	9	113431242	113431242	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:113431242G>A	ENST00000374448.4	+	1	192	c.58G>A	c.(58-60)Gga>Aga	p.G20R	MUSK_ENST00000416899.2_Missense_Mutation_p.G20R|MUSK_ENST00000189978.5_Missense_Mutation_p.G20R|MUSK_ENST00000374440.3_5'UTR	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	20					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TGCCTTCAGCGGAACTGAGAA	0.438																																						dbGAP											0													330.0	317.0	321.0					9																	113431242		1901	4123	6024	-	-	-	SO:0001583	missense	0			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.58G>A	9.37:g.113431242G>A	ENSP00000363571:p.Gly20Arg		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G20R	ENST00000374448.4	37	c.58	CCDS48005.1	9	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497875	0.44455	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.73469	-0.75	5.18	3.3	0.37823	.	0.381500	0.22739	N	0.056228	T	0.58452	0.2123	N	0.19112	0.55	0.80722	D	1	D;D	0.64830	0.965;0.994	B;P	0.50314	0.387;0.637	T	0.56523	-0.7965	10	0.13470	T	0.59	.	2.5396	0.04722	0.0967:0.1995:0.4509:0.2529	.	20;20	O15146;F5H6T2	MUSK_HUMAN;.	R	20	ENSP00000363571:G20R	ENSP00000189978:G20R	G	+	1	0	MUSK	112471063	0.957000	0.32711	1.000000	0.80357	0.773000	0.43773	0.060000	0.14342	1.205000	0.43262	-0.252000	0.11476	GGA	MUSK	-	NULL	ENSG00000030304		0.438	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	HGNC	protein_coding		362	0.00	0	G			113431242	113431242	+1	no_errors	ENST00000189978	ensembl	human	known	69_37n	missense	83	15.84	16	SNP	1.000	A
MYH14	79784	genome.wustl.edu	37	19	50752377	50752377	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:50752377C>T	ENST00000596571.1	+	11	1439	c.1439C>T	c.(1438-1440)gCg>gTg	p.A480V	MYH14_ENST00000425460.1_Missense_Mutation_p.A488V|MYH14_ENST00000376970.2_Missense_Mutation_p.A480V|MYH14_ENST00000601313.1_Missense_Mutation_p.A488V|MYH14_ENST00000440075.2_Missense_Mutation_p.A488V|MYH14_ENST00000598205.1_Missense_Mutation_p.A488V|MYH14_ENST00000262269.8_Missense_Mutation_p.A488V			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	480	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CTGGACATCGCGGGCTTTGAG	0.647																																						dbGAP											0													16.0	19.0	18.0					19																	50752377		2015	4183	6198	-	-	-	SO:0001583	missense	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1439C>T	19.37:g.50752377C>T	ENSP00000472819:p.Ala480Val		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A488V	ENST00000596571.1	37	c.1463	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840755	0.91197	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	4.4	4.4	0.53042	Myosin head, motor domain (3);	.	.	.	.	D	0.90570	0.7044	H	0.99074	4.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.995;0.999	D	0.94129	0.7386	9	0.87932	D	0	.	14.8551	0.70329	0.0:1.0:0.0:0.0	.	488;480;488	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	V	480;488;480;488;480;488	ENSP00000406273:A488V;ENSP00000366169:A480V;ENSP00000407879:A488V;ENSP00000262269:A488V	ENSP00000262269:A488V	A	+	2	0	MYH14	55444189	1.000000	0.71417	0.955000	0.39395	0.925000	0.55904	7.503000	0.81632	2.450000	0.82876	0.561000	0.74099	GCG	MYH14	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000105357		0.647	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	40	0.00	0	C	NM_024729		50752377	50752377	+1	no_errors	ENST00000262269	ensembl	human	known	69_37n	missense	72	14.29	12	SNP	0.999	T
MYADM	91663	genome.wustl.edu	37	19	54377506	54377506	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:54377506G>A	ENST00000391769.2	+	3	1003	c.723G>A	c.(721-723)tcG>tcA	p.S241S	MYADM_ENST00000336967.3_Silent_p.S241S|MYADM_ENST00000391771.1_Silent_p.S241S|MYADM_ENST00000391768.2_Silent_p.S241S|MYADM_ENST00000391770.4_Silent_p.S241S|AC008440.5_ENST00000413496.2_RNA	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	241	MARVEL 2. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GCTTCCTGTCGGGGCTGGCCT	0.627																																						dbGAP											0													95.0	90.0	92.0					19																	54377506		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.723G>A	19.37:g.54377506G>A			B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Silent	SNP	pfam_MARVEL-like_dom	p.S241	ENST00000391769.2	37	c.723	CCDS12866.1	19																																																																																			MYADM	-	pfam_MARVEL-like_dom	ENSG00000179820		0.627	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYADM	HGNC	protein_coding	OTTHUMT00000134337.1	200	0.00	0	G	NM_138373		54377506	54377506	+1	no_errors	ENST00000336967	ensembl	human	known	69_37n	silent	350	12.47	50	SNP	0.000	A
MYH6	4624	genome.wustl.edu	37	14	23853881	23853881	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:23853881C>T	ENST00000356287.3	-	35	5364	c.5335G>A	c.(5335-5337)Gcc>Acc	p.A1779T	MYH6_ENST00000405093.3_Missense_Mutation_p.A1779T			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1779					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCAGGTGGGCGCTGGTGTCC	0.622																																						dbGAP											0													81.0	80.0	80.0					14																	23853881		2203	4300	6503	-	-	-	SO:0001583	missense	0			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.5335G>A	14.37:g.23853881C>T	ENSP00000348634:p.Ala1779Thr		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1779T	ENST00000356287.3	37	c.5335	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	c	32	5.160458	0.94727	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.78595	-1.19;-1.19	4.82	4.82	0.62117	Myosin tail (1);	.	.	.	.	D	0.89181	0.6642	M	0.90759	3.145	0.80722	D	1	D	0.58268	0.982	P	0.60117	0.869	D	0.91501	0.5219	9	0.66056	D	0.02	.	18.2942	0.90139	0.0:1.0:0.0:0.0	.	1779	P13533	MYH6_HUMAN	T	1779	ENSP00000386041:A1779T;ENSP00000348634:A1779T	ENSP00000348634:A1779T	A	-	1	0	MYH6	22923721	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.718000	0.61930	2.395000	0.81488	0.561000	0.74099	GCC	MYH6	-	pfam_Myosin_tail	ENSG00000197616		0.622	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	268	0.00	0	C			23853881	23853881	-1	no_errors	ENST00000356287	ensembl	human	known	69_37n	missense	276	39.35	181	SNP	1.000	T
MYO18B	84700	genome.wustl.edu	37	22	26242210	26242210	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr22:26242210T>C	ENST00000407587.2	+	19	3684	c.3515T>C	c.(3514-3516)gTg>gCg	p.V1172A	MYO18B_ENST00000335473.7_Missense_Mutation_p.V1171A|MYO18B_ENST00000536101.1_Missense_Mutation_p.V1171A			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1171	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTTGCCGCGGTGAGGAGGAAA	0.652																																						dbGAP											0													76.0	89.0	84.0					22																	26242210		2166	4245	6411	-	-	-	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3515T>C	22.37:g.26242210T>C	ENSP00000386096:p.Val1172Ala		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V1171A	ENST00000407587.2	37	c.3512		22	.	.	.	.	.	.	.	.	.	.	T	5.782	0.328609	0.10956	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86769	-2.17;-2.17;-2.17	4.32	1.03	0.20045	Myosin head, motor domain (2);	0.520638	0.19800	N	0.105761	D	0.82843	0.5125	M	0.63843	1.955	0.09310	N	1	B;B;B;B	0.22480	0.015;0.07;0.027;0.056	B;B;B;B	0.24269	0.014;0.052;0.02;0.031	T	0.73984	-0.3810	10	0.87932	D	0	.	7.2107	0.25931	0.0:0.2841:0.0:0.7159	.	684;1171;1172;1171	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	A	1171;1171;1172	ENSP00000441229:V1171A;ENSP00000334563:V1171A;ENSP00000386096:V1172A	ENSP00000334563:V1171A	V	+	2	0	MYO18B	24572210	0.786000	0.28738	0.001000	0.08648	0.045000	0.14185	4.359000	0.59449	-0.037000	0.13646	-0.441000	0.05720	GTG	MYO18B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000133454		0.652	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	242	0.80	2	T	NM_032608		26242210	26242210	+1	no_errors	ENST00000335473	ensembl	human	known	69_37n	missense	152	26.19	55	SNP	0.001	C
MYO1E	4643	genome.wustl.edu	37	15	59502732	59502732	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:59502732T>C	ENST00000288235.4	-	13	1742	c.1343A>G	c.(1342-1344)gAc>gGc	p.D448G	RNU4-80P_ENST00000363200.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	448	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CTCTATGAGGTCACATACGAT	0.338																																						dbGAP											0													193.0	184.0	187.0					15																	59502732		2190	4290	6480	-	-	-	SO:0001583	missense	0			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1343A>G	15.37:g.59502732T>C	ENSP00000288235:p.Asp448Gly		Q14778	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.D448G	ENST00000288235.4	37	c.1343	CCDS32254.1	15	.	.	.	.	.	.	.	.	.	.	T	22.2	4.263797	0.80358	.	.	ENSG00000157483	ENST00000288235	D	0.89810	-2.57	5.36	5.36	0.76844	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.97015	0.9025	H	0.99357	4.53	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.98730	1.0712	10	0.87932	D	0	.	15.5164	0.75828	0.0:0.0:0.0:1.0	.	448	Q12965	MYO1E_HUMAN	G	448	ENSP00000288235:D448G	ENSP00000288235:D448G	D	-	2	0	MYO1E	57290024	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.841000	0.86834	2.257000	0.74773	0.459000	0.35465	GAC	MYO1E	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000157483		0.338	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1E	HGNC	protein_coding	OTTHUMT00000416024.1	236	0.00	0	T	NM_004998		59502732	59502732	-1	no_errors	ENST00000288235	ensembl	human	known	69_37n	missense	205	12.39	29	SNP	1.000	C
NAP1L1	4673	genome.wustl.edu	37	12	76444310	76444312	+	Splice_Site	DEL	CAT	CAT	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	CAT	CAT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:76444310_76444312delCAT	ENST00000261182.8	-	12	1544_1546	c.1058_1060delATG	c.(1057-1062)gatgat>gat	p.353_354DD>D	NAP1L1_ENST00000544816.1_Splice_Site_p.170_171DD>D|NAP1L1_ENST00000393263.3_Splice_Site_p.353_354DD>D|NAP1L1_ENST00000547993.1_Splice_Site_p.170_171DD>D|NAP1L1_ENST00000542344.1_Splice_Site_p.311_312DD>D|NAP1L1_ENST00000535020.2_Splice_Site_p.353_354DD>D|NAP1L1_ENST00000548044.1_Splice_Site_p.312_313DD>D|NAP1L1_ENST00000547773.1_Splice_Site_p.290_291DD>D|NAP1L1_ENST00000549596.1_Splice_Site_p.353_354DD>D|NAP1L1_ENST00000552342.1_Splice_Site_p.364_365DD>D|NAP1L1_ENST00000431879.3_Splice_Site_p.285_286DD>D	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	353	Asp/Glu-rich (acidic).				DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				AATTCGCTTACATCATCATCATC	0.345																																						dbGAP											0									,	12,4252		5,2,2125					,	5.7	1.0			67	26,8228		12,2,4113	no	coding-near-splice,coding-near-splice	NAP1L1	NM_139207.2,NM_004537.4	,	17,4,6238	A1A1,A1R,RR		0.315,0.2814,0.3036	,	,		38,12480				-	-	-	SO:0001630	splice_region_variant	0				CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.1059+1ATG>-	12.37:g.76444319_76444321delCAT			B3KNT8	Splice_Site	DEL	-	e12-1	ENST00000261182.8	37	c.1059+3_1059+1	CCDS9013.1	12																																																																																			NAP1L1	-	-	ENSG00000187109		0.345	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L1	HGNC	protein_coding	OTTHUMT00000405850.3	54	0.00	0	CAT	NM_139207	In_Frame_Del	76444310	76444312	-1	no_errors	ENST00000261182	ensembl	human	known	69_37n	splice_site_del	12	14.29	2	DEL	1.000:1.000:1.000	-
NBEA	26960	genome.wustl.edu	37	13	36239286	36239286	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr13:36239286C>T	ENST00000400445.3	+	55	8898	c.8364C>T	c.(8362-8364)gtC>gtT	p.V2788V	NBEA_ENST00000540320.1_Silent_p.V2788V|NBEA_ENST00000379939.2_Silent_p.V2785V|NBEA_ENST00000379922.3_Silent_p.V366V|NBEA_ENST00000310336.4_Silent_p.V2788V|NBEA_ENST00000537702.1_Silent_p.V581V	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2788					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTGTTTCTGTCTGTGCAGAAC	0.468																																						dbGAP											0													103.0	104.0	103.0					13																	36239286		2023	4177	6200	-	-	-	SO:0001819	synonymous_variant	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.8364C>T	13.37:g.36239286C>T			B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.V2788	ENST00000400445.3	37	c.8364	CCDS45026.1	13																																																																																			NBEA	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000172915		0.468	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		283	0.00	0	C	NM_015678		36239286	36239286	+1	no_errors	ENST00000310336	ensembl	human	known	69_37n	silent	152	14.53	26	SNP	1.000	T
NCKAP5	344148	genome.wustl.edu	37	2	133539536	133539536	+	Silent	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:133539536G>T	ENST00000409261.1	-	14	5221	c.4848C>A	c.(4846-4848)acC>acA	p.T1616T	NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.T1616T	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1616										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCGTCATGAAGGTGTCTTTCG	0.438																																						dbGAP											0													235.0	207.0	216.0					2																	133539536		1922	4133	6055	-	-	-	SO:0001819	synonymous_variant	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4848C>A	2.37:g.133539536G>T			B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	NULL	p.T1616	ENST00000409261.1	37	c.4848	CCDS46418.1	2																																																																																			NCKAP5	-	NULL	ENSG00000176771		0.438	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	566	0.00	0	G	NM_207481		133539536	133539536	-1	no_errors	ENST00000317721	ensembl	human	known	69_37n	silent	174	17.06	36	SNP	0.810	T
NCKAP5	344148	genome.wustl.edu	37	2	134060613	134060613	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:134060613A>G	ENST00000409261.1	-	4	512	c.139T>C	c.(139-141)Tgg>Cgg	p.W47R	NCKAP5_ENST00000405974.3_Missense_Mutation_p.W47R|NCKAP5_ENST00000409213.1_Missense_Mutation_p.W47R|NCKAP5_ENST00000317721.6_Missense_Mutation_p.W47R	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	47										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ACTCACCTCCAGAGACTCCTG	0.388																																						dbGAP											0													95.0	96.0	96.0					2																	134060613		1954	4138	6092	-	-	-	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.139T>C	2.37:g.134060613A>G	ENSP00000387128:p.Trp47Arg		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.W47R	ENST00000409261.1	37	c.139	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	A	12.88	2.069248	0.36470	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661;ENST00000542834;ENST00000358991	T;T;T;T	0.56611	2.49;0.45;2.49;0.45	5.15	5.15	0.70609	.	.	.	.	.	T	0.57636	0.2067	N	0.19112	0.55	0.34509	D	0.706912	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.91635	0.996;0.997;0.999;0.999	T	0.67968	-0.5533	9	0.51188	T	0.08	.	13.1242	0.59344	1.0:0.0:0.0:0.0	.	47;22;47;47	F5GYX5;O14513-3;O14513-2;O14513	.;.;.;NCKP5_HUMAN	R	47;47;47;47;47;22;47	ENSP00000387128:W47R;ENSP00000386952:W47R;ENSP00000380603:W47R;ENSP00000385692:W47R	ENSP00000380603:W47R	W	-	1	0	NCKAP5	133777083	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	4.199000	0.58426	2.285000	0.76669	0.477000	0.44152	TGG	NCKAP5	-	NULL	ENSG00000176771		0.388	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	211	0.47	1	A	NM_207481		134060613	134060613	-1	no_errors	ENST00000317721	ensembl	human	known	69_37n	missense	94	12.96	14	SNP	1.000	G
NCOA7	135112	genome.wustl.edu	37	6	126206415	126206415	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:126206415C>T	ENST00000368357.3	+	9	1162	c.810C>T	c.(808-810)tgC>tgT	p.C270C	NCOA7_ENST00000229634.9_Silent_p.C166C|NCOA7_ENST00000392477.2_Silent_p.C270C	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	270					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GTCTCATCTGCCCCATGGAAG	0.418																																						dbGAP											0													331.0	298.0	310.0					6																	126206415		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.810C>T	6.37:g.126206415C>T			B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Silent	SNP	pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc	p.C270	ENST00000368357.3	37	c.810	CCDS5132.1	6																																																																																			NCOA7	-	pfam_GRAM	ENSG00000111912		0.418	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA7	HGNC	protein_coding	OTTHUMT00000042083.4	467	0.00	0	C	XM_059748		126206415	126206415	+1	no_errors	ENST00000368357	ensembl	human	known	69_37n	silent	53	14.52	9	SNP	0.999	T
NCOR1	9611	genome.wustl.edu	37	17	15968868	15968868	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:15968868G>A	ENST00000268712.3	-	33	5139	c.4882C>T	c.(4882-4884)Cgt>Tgt	p.R1628C	NCOR1_ENST00000395851.1_Missense_Mutation_p.R1644C|NCOR1_ENST00000395857.3_Missense_Mutation_p.R212C	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1628	Interaction with C1D. {ECO:0000250}.|Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACATCTGGACGCAAGTTCACT	0.473																																						dbGAP											0													165.0	146.0	152.0					17																	15968868		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4882C>T	17.37:g.15968868G>A	ENSP00000268712:p.Arg1628Cys		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R1628C	ENST00000268712.3	37	c.4882	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548897	0.86127	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.62639	0.01;0.01;0.01	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.78786	0.4338	M	0.79475	2.455	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.997;0.99;0.996;0.999	T	0.81011	-0.1126	10	0.87932	D	0	-7.2672	13.5237	0.61582	0.0:0.0:0.8442:0.1558	.	438;1532;1628;1644;148	B4DZ48;E7EVK1;O75376;O75376-2;Q86YY1	.;.;NCOR1_HUMAN;.;.	C	1628;1644;1532;212	ENSP00000268712:R1628C;ENSP00000379192:R1644C;ENSP00000379198:R212C	ENSP00000268712:R1628C	R	-	1	0	NCOR1	15909593	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.776000	0.68924	2.625000	0.88918	0.557000	0.71058	CGT	NCOR1	-	NULL	ENSG00000141027		0.473	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	373	0.00	0	G	NM_006311		15968868	15968868	-1	no_errors	ENST00000268712	ensembl	human	known	69_37n	missense	81	22.86	24	SNP	1.000	A
NDUFA9	4704	genome.wustl.edu	37	12	4764073	4764073	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:4764073C>T	ENST00000266544.5	+	3	323	c.303C>T	c.(301-303)ggC>ggT	p.G101G	RP11-500M8.7_ENST00000536588.1_3'UTR|NDUFA9_ENST00000542369.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	101					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						GTGACCTGGGCCAGCTTCTGT	0.418																																					Colon(75;996 1244 23946 25294 29232)	dbGAP											0													87.0	84.0	85.0					12																	4764073		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.303C>T	12.37:g.4764073C>T			Q14076|Q2NKX0	Silent	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_NmrA	p.G101	ENST00000266544.5	37	c.303	CCDS8532.1	12																																																																																			NDUFA9	-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_NmrA	ENSG00000139180		0.418	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA9	HGNC	protein_coding	OTTHUMT00000398900.2	122	0.00	0	C	NM_005002		4764073	4764073	+1	no_errors	ENST00000266544	ensembl	human	known	69_37n	silent	34	17.07	7	SNP	0.971	T
NEDD1	121441	genome.wustl.edu	37	12	97328875	97328875	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:97328875T>C	ENST00000266742.4	+	7	950	c.611T>C	c.(610-612)gTa>gCa	p.V204A	NEDD1_ENST00000555114.1_3'UTR|NEDD1_ENST00000457368.2_Missense_Mutation_p.V115A|NEDD1_ENST00000411739.2_Missense_Mutation_p.V115A|NEDD1_ENST00000429527.2_Missense_Mutation_p.V204A|NEDD1_ENST00000557644.1_Missense_Mutation_p.V211A	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	204					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						TTTGACAGTGTACACAAAGCT	0.398																																						dbGAP											0													231.0	219.0	223.0					12																	97328875		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.611T>C	12.37:g.97328875T>C	ENSP00000266742:p.Val204Ala		B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V211A	ENST00000266742.4	37	c.632	CCDS9063.1	12	.	.	.	.	.	.	.	.	.	.	T	0.044	-1.274322	0.01421	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000411739;ENST00000553609;ENST00000557644;ENST00000457368	T;T;T;T;T;T	0.27402	1.68;1.68;1.67;1.68;1.68;1.67	5.71	2.48	0.30137	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.452981	0.27280	N	0.020091	T	0.06554	0.0168	N	0.00465	-1.465	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39981	-0.9587	10	0.02654	T	1	.	8.8787	0.35360	0.1094:0.7039:0.1191:0.0676	.	211;204	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	A	204;204;115;115;211;115	ENSP00000266742:V204A;ENSP00000404978:V204A;ENSP00000411307:V115A;ENSP00000451830:V115A;ENSP00000451211:V211A;ENSP00000407964:V115A	ENSP00000266742:V204A	V	+	2	0	NEDD1	95853006	0.772000	0.28567	0.483000	0.27378	0.186000	0.23388	2.952000	0.49097	0.714000	0.32081	-0.182000	0.12963	GTA	NEDD1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000139350		0.398	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEDD1	HGNC	protein_coding	OTTHUMT00000409792.1	285	0.35	1	T			97328875	97328875	+1	no_errors	ENST00000557644	ensembl	human	known	69_37n	missense	33	35.29	18	SNP	0.135	C
NCOR2	9612	genome.wustl.edu	37	12	124887087	124887087	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:124887087C>T	ENST00000405201.1	-	14	1503	c.1503G>A	c.(1501-1503)caG>caA	p.Q501Q	NCOR2_ENST00000397355.1_Silent_p.Q501Q|NCOR2_ENST00000404121.2_Silent_p.Q71Q|NCOR2_ENST00000356219.3_Silent_p.Q501Q|NCOR2_ENST00000404621.1_Silent_p.Q500Q|NCOR2_ENST00000429285.2_Silent_p.Q500Q			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	501	Poly-Gln.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		gctgctgctgctgctgctgtt	0.612																																						dbGAP											0													9.0	11.0	10.0					12																	124887087		2060	4188	6248	-	-	-	SO:0001819	synonymous_variant	0			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1503G>A	12.37:g.124887087C>T			O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.Q501	ENST00000405201.1	37	c.1503	CCDS41858.2	12																																																																																			NCOR2	-	NULL	ENSG00000196498		0.612	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	117	0.00	0	C	NM_006312		124887087	124887087	-1	no_errors	ENST00000356219	ensembl	human	known	69_37n	silent	132	31.79	62	SNP	1.000	T
NEK4	6787	genome.wustl.edu	37	3	52780208	52780208	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:52780208G>A	ENST00000233027.5	-	10	1898	c.1696C>T	c.(1696-1698)Cga>Tga	p.R566*	NEK4_ENST00000535191.1_Nonsense_Mutation_p.R477*|NEK4_ENST00000383721.4_Nonsense_Mutation_p.R520*	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	566					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		GGCAAAAATCGAGGAGGCGAC	0.413																																						dbGAP											0													111.0	107.0	108.0					3																	52780208		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.1696C>T	3.37:g.52780208G>A	ENSP00000233027:p.Arg566*		A5YM70|B2R633|B7Z200|Q6P576	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R566*	ENST00000233027.5	37	c.1696	CCDS2863.1	3	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642082	0.67244	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	.	.	.	5.17	-0.848	0.10727	.	1.055420	0.07517	N	0.909963	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.1554	0.03810	0.1708:0.108:0.4234:0.2979	.	.	.	.	X	566;477;520;477	.	ENSP00000233027:R566X	R	-	1	2	NEK4	52755248	0.010000	0.17322	0.003000	0.11579	0.019000	0.09904	-0.093000	0.11111	-0.060000	0.13132	0.561000	0.74099	CGA	NEK4	-	NULL	ENSG00000114904		0.413	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEK4	HGNC	protein_coding	OTTHUMT00000352386.2	113	0.00	0	G	NM_003157		52780208	52780208	-1	no_errors	ENST00000233027	ensembl	human	known	69_37n	nonsense	59	10.61	7	SNP	0.014	A
NFE2	4778	genome.wustl.edu	37	12	54686225	54686225	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:54686225A>G	ENST00000540264.2	-	2	1564	c.1055T>C	c.(1054-1056)cTg>cCg	p.L352P	NFE2_ENST00000553070.1_Missense_Mutation_p.L352P|NFE2_ENST00000435572.2_Missense_Mutation_p.L352P|NFE2_ENST00000312156.4_Missense_Mutation_p.L352P|RP11-968A15.8_ENST00000553061.1_RNA			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	352					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						AGCCTGTTGCAGCGCGTACTC	0.587																																						dbGAP											0													74.0	68.0	70.0					12																	54686225		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"""basic leucine zipper proteins"""	7780	protein-coding gene	gene with protein product		601490	"""nuclear factor (erythroid-derived 2), 45kD"", ""nuclear factor (erythroid-derived 2), 45kDa"""			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.1055T>C	12.37:g.54686225A>G	ENSP00000439120:p.Leu352Pro		Q07720|Q6ICV9	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.L352P	ENST00000540264.2	37	c.1055	CCDS8876.1	12	.	.	.	.	.	.	.	.	.	.	A	20.7	4.029472	0.75504	.	.	ENSG00000123405	ENST00000312156;ENST00000435572;ENST00000540264;ENST00000553070	.	.	.	5.36	5.36	0.76844	.	0.189477	0.35615	N	0.003084	T	0.78175	0.4242	M	0.74389	2.26	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80984	-0.1138	9	0.87932	D	0	-10.0892	13.6164	0.62110	1.0:0.0:0.0:0.0	.	352	Q16621	NFE2_HUMAN	P	352	.	ENSP00000312436:L352P	L	-	2	0	NFE2	52972492	1.000000	0.71417	0.922000	0.36590	0.658000	0.38924	7.338000	0.79269	2.166000	0.68216	0.533000	0.62120	CTG	NFE2	-	NULL	ENSG00000123405		0.587	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NFE2	HGNC	protein_coding	OTTHUMT00000405747.1	95	0.00	0	A	NM_006163		54686225	54686225	-1	no_errors	ENST00000312156	ensembl	human	known	69_37n	missense	61	11.59	8	SNP	0.998	G
NFKB2	4791	genome.wustl.edu	37	10	104157082	104157082	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:104157082A>G	ENST00000369966.3	+	7	669	c.419A>G	c.(418-420)cAt>cGt	p.H140R	NFKB2_ENST00000189444.6_Missense_Mutation_p.H140R|NFKB2_ENST00000428099.1_Missense_Mutation_p.H140R	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	140	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	GGTGTCCTGCATGTGACTAAG	0.537			T	IGH@	B-NHL																																	dbGAP		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	0													99.0	102.0	101.0					10																	104157082		1890	4131	6021	-	-	-	SO:0001583	missense	0			X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.419A>G	10.37:g.104157082A>G	ENSP00000358983:p.His140Arg		A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	pfam_RHD,pfam_Ankyrin_rpt,pfam_Death,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like,smart_IPT_TIG_rcpt,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_dor,prints_Ankyrin_rpt	p.H140R	ENST00000369966.3	37	c.419	CCDS41564.1	10	.	.	.	.	.	.	.	.	.	.	A	19.21	3.784133	0.70222	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.45276	0.9;0.9;0.9	5.4	5.4	0.78164	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.66117	0.2757	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.71163	-0.4673	10	0.87932	D	0	.	15.4147	0.74956	1.0:0.0:0.0:0.0	.	140;140;140	D3DR86;Q00653;A8K9D9	.;NFKB2_HUMAN;.	R	140	ENSP00000410256:H140R;ENSP00000358983:H140R;ENSP00000189444:H140R	ENSP00000189444:H140R	H	+	2	0	NFKB2	104147072	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	8.832000	0.92079	2.038000	0.60285	0.459000	0.35465	CAT	NFKB2	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD	ENSG00000077150		0.537	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFKB2	HGNC	protein_coding	OTTHUMT00000050080.2	108	0.00	0	A			104157082	104157082	+1	no_errors	ENST00000189444	ensembl	human	known	69_37n	missense	138	10.39	16	SNP	1.000	G
NID2	22795	genome.wustl.edu	37	14	52509645	52509645	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:52509645G>A	ENST00000216286.5	-	6	1433	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	NID2_ENST00000541773.1_Silent_p.F425F	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	478					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CATTATACGTGAAGACTGAAA	0.463																																						dbGAP											0													108.0	90.0	96.0					14																	52509645		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1434C>T	14.37:g.52509645G>A			A8K6I7|B4DU19|O43710	Silent	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.F478	ENST00000216286.5	37	c.1434	CCDS9706.1	14																																																																																			NID2	-	NULL	ENSG00000087303		0.463	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID2	HGNC	protein_coding	OTTHUMT00000276888.1	192	0.00	0	G			52509645	52509645	-1	no_errors	ENST00000216286	ensembl	human	known	69_37n	silent	40	16.67	8	SNP	0.849	A
NIPBL	25836	genome.wustl.edu	37	5	36976100	36976100	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:36976100G>A	ENST00000282516.8	+	9	1590	c.1091G>A	c.(1090-1092)cGt>cAt	p.R364H	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.R364H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	364					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGACTTTCTCGTGTAAGGTCT	0.378																																						dbGAP											0													102.0	106.0	105.0					5																	36976100		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1091G>A	5.37:g.36976100G>A	ENSP00000282516:p.Arg364His		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R364H	ENST00000282516.8	37	c.1091	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937481	0.92458	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.97941	-4.59;-4.62	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.97576	0.9206	L	0.27053	0.805	0.54753	D	0.999986	D;D	0.76494	0.999;0.999	D;D	0.78314	0.98;0.991	D	0.99091	1.0840	10	0.59425	D	0.04	.	18.8167	0.92079	0.0:0.0:1.0:0.0	.	364;364	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	H	364	ENSP00000282516:R364H;ENSP00000406266:R364H	ENSP00000282516:R364H	R	+	2	0	NIPBL	37011857	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.473000	0.97714	2.447000	0.82792	0.467000	0.42956	CGT	NIPBL	-	NULL	ENSG00000164190		0.378	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	155	0.00	0	G	NM_015384		36976100	36976100	+1	no_errors	ENST00000282516	ensembl	human	known	69_37n	missense	34	15.00	6	SNP	1.000	A
NISCH	11188	genome.wustl.edu	37	3	52522444	52522444	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:52522444G>A	ENST00000479054.1	+	17	3008	c.2936G>A	c.(2935-2937)cGc>cAc	p.R979H	NISCH_ENST00000345716.4_Missense_Mutation_p.R979H			Q9Y2I1	NISCH_HUMAN	nischarin	979					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	GTGGGGTACCGCTTTGTCACT	0.642																																						dbGAP											0													71.0	71.0	71.0					3																	52522444		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.2936G>A	3.37:g.52522444G>A	ENSP00000418232:p.Arg979His		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox	p.R979H	ENST00000479054.1	37	c.2936	CCDS33767.1	3	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351995	0.61183	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	T;T	0.60548	0.18;0.18	5.21	5.21	0.72293	.	0.121583	0.56097	D	0.000036	T	0.66992	0.2846	L	0.32530	0.975	0.41530	D	0.988458	D	0.89917	1.0	D	0.65140	0.932	T	0.71272	-0.4642	10	0.87932	D	0	-28.3674	18.7518	0.91819	0.0:0.0:1.0:0.0	.	979	Q9Y2I1	NISCH_HUMAN	H	979;979;323	ENSP00000418232:R979H;ENSP00000339958:R979H	ENSP00000339958:R979H	R	+	2	0	NISCH	52497484	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	3.903000	0.56318	2.434000	0.82447	0.462000	0.41574	CGC	NISCH	-	NULL	ENSG00000010322		0.642	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NISCH	HGNC	protein_coding	OTTHUMT00000351357.1	78	0.00	0	G	NM_007184		52522444	52522444	+1	no_errors	ENST00000345716	ensembl	human	known	69_37n	missense	118	11.94	16	SNP	1.000	A
NISCH	11188	genome.wustl.edu	37	3	52523560	52523560	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:52523560A>C	ENST00000479054.1	+	18	3394	c.3322A>C	c.(3322-3324)Agt>Cgt	p.S1108R	NISCH_ENST00000345716.4_Missense_Mutation_p.S1108R			Q9Y2I1	NISCH_HUMAN	nischarin	1108					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	ccAGTACCCGAGTGAGCACCT	0.692																																						dbGAP											0													57.0	61.0	59.0					3																	52523560		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.3322A>C	3.37:g.52523560A>C	ENSP00000418232:p.Ser1108Arg		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox	p.S1108R	ENST00000479054.1	37	c.3322	CCDS33767.1	3	.	.	.	.	.	.	.	.	.	.	A	15.69	2.907386	0.52333	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	T;T	0.63096	-0.02;-0.02	5.33	4.1	0.47936	.	0.244485	0.39687	N	0.001295	T	0.56337	0.1978	L	0.32530	0.975	0.29814	N	0.831367	D	0.54964	0.969	P	0.50352	0.638	T	0.58847	-0.7564	10	0.66056	D	0.02	-12.2396	8.3747	0.32436	0.6542:0.0:0.0:0.3458	.	1108	Q9Y2I1	NISCH_HUMAN	R	1108;1108;452	ENSP00000418232:S1108R;ENSP00000339958:S1108R	ENSP00000339958:S1108R	S	+	1	0	NISCH	52498600	0.554000	0.26522	0.839000	0.33178	0.361000	0.29550	2.070000	0.41491	2.026000	0.59711	0.459000	0.35465	AGT	NISCH	-	NULL	ENSG00000010322		0.692	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NISCH	HGNC	protein_coding	OTTHUMT00000351357.1	37	0.00	0	A	NM_007184		52523560	52523560	+1	no_errors	ENST00000345716	ensembl	human	known	69_37n	missense	65	12.16	9	SNP	0.934	C
NOC3L	64318	genome.wustl.edu	37	10	96117831	96117831	+	Intron	SNP	A	A	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:96117831A>C	ENST00000371361.3	-	3	451				NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Intron	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)						fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				AACCCAAATGAAGTATTACCT	0.328																																						dbGAP											0													99.0	96.0	97.0					10																	96117831		2203	4297	6500	-	-	-	SO:0001627	intron_variant	0			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.350+8T>G	10.37:g.96117831A>C			Q9H5M6|Q9H9D8	RNA	SNP	-	NULL	ENST00000371361.3	37	NULL	CCDS7433.1	10																																																																																			NOC3L	-	-	ENSG00000173145		0.328	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOC3L	HGNC	protein_coding	OTTHUMT00000049466.1	100	0.00	0	A	NM_022451		96117831	96117831	-1	no_errors	ENST00000463649	ensembl	human	known	69_37n	rna	71	21.11	19	SNP	0.035	C
NPBWR1	2831	genome.wustl.edu	37	8	53852750	53852750	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:53852750G>A	ENST00000331251.3	+	1	1760	c.283G>A	c.(283-285)Gcc>Acc	p.A95T		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	95					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CATCAACATCGCCGACTTCCT	0.607																																						dbGAP											0													54.0	43.0	47.0					8																	53852750		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4522	protein-coding gene	gene with protein product		600730	"""G protein-coupled receptor 7"""	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.283G>A	8.37:g.53852750G>A	ENSP00000330284:p.Ala95Thr		Q6NTC7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Neuropept_W_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt	p.A95T	ENST00000331251.3	37	c.283	CCDS6151.1	8	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196941	0.58126	.	.	ENSG00000183729	ENST00000331251	T	0.72282	-0.64	4.94	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.118551	0.36444	N	0.002595	T	0.72382	0.3453	L	0.39020	1.185	0.49130	D	0.999757	D	0.89917	1.0	D	0.72075	0.976	T	0.67760	-0.5587	10	0.06099	T	0.92	.	13.5326	0.61631	0.0754:0.0:0.9246:0.0	.	95	P48145	NPBW1_HUMAN	T	95	ENSP00000330284:A95T	ENSP00000330284:A95T	A	+	1	0	NPBWR1	54015303	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.507000	0.81676	1.304000	0.44892	0.655000	0.94253	GCC	NPBWR1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Neuropept_W_rcpt,prints_NPY_rcpt	ENSG00000183729		0.607	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPBWR1	HGNC	protein_coding	OTTHUMT00000378047.1	138	0.00	0	G	NM_005285		53852750	53852750	+1	no_errors	ENST00000331251	ensembl	human	known	69_37n	missense	235	17.54	50	SNP	1.000	A
NPC1	4864	genome.wustl.edu	37	18	21134739	21134739	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr18:21134739G>A	ENST00000269228.5	-	9	2090	c.1536C>T	c.(1534-1536)caC>caT	p.H512H	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Silent_p.H262H	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	512			H -> R (in NPC1). {ECO:0000269|PubMed:11754101}.		adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGTACAGAAAGTGCGTGTGGT	0.458																																						dbGAP											0													93.0	82.0	86.0					18																	21134739		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1536C>T	18.37:g.21134739G>A			B4DET3|Q9P130	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD,tigrfam_NP_C_type	p.T273I	ENST00000269228.5	37	c.818	CCDS11878.1	18																																																																																			NPC1	-	NULL	ENSG00000141458		0.458	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPC1	HGNC	protein_coding	OTTHUMT00000254823.2	204	0.00	0	G	NM_000271		21134739	21134739	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000591051	ensembl	human	putative	69_37n	missense	73	11.90	10	SNP	1.000	A
NPHP4	261734	genome.wustl.edu	37	1	6007234	6007234	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:6007234C>T	ENST00000378156.4	-	9	1314	c.1049G>A	c.(1048-1050)gGc>gAc	p.G350D	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	350					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGCAGGGTGGCCGACCATCTC	0.577																																						dbGAP											0													72.0	75.0	74.0					1																	6007234		2053	4182	6235	-	-	-	SO:0001583	missense	0			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1049G>A	1.37:g.6007234C>T	ENSP00000367398:p.Gly350Asp		Q8IWC0	Missense_Mutation	SNP	NULL	p.G350D	ENST00000378156.4	37	c.1049	CCDS44052.1	1	.	.	.	.	.	.	.	.	.	.	C	0.804	-0.754282	0.03041	.	.	ENSG00000131697	ENST00000378156	D	0.86230	-2.09	5.39	-8.11	0.01082	.	1.403590	0.04461	N	0.374478	T	0.68686	0.3028	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.15870	0.014	T	0.59931	-0.7361	10	0.12766	T	0.61	.	8.7738	0.34749	0.0:0.148:0.222:0.6301	.	350	O75161	NPHP4_HUMAN	D	350	ENSP00000367398:G350D	ENSP00000367398:G350D	G	-	2	0	NPHP4	5929821	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.828000	0.01702	-1.529000	0.01754	-0.302000	0.09304	GGC	NPHP4	-	NULL	ENSG00000131697		0.577	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NPHP4	HGNC	protein_coding	OTTHUMT00000001715.2	148	0.00	0	C			6007234	6007234	-1	no_errors	ENST00000378156	ensembl	human	known	69_37n	missense	148	14.29	25	SNP	0.000	T
NR1D1	9572	genome.wustl.edu	37	17	38253389	38253389	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:38253389delG	ENST00000246672.3	-	2	929	c.299delC	c.(298-300)cctfs	p.P100fs		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	100	Crucial for activation of GJA1. {ECO:0000250}.|Modulating.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					TAGACTCCCAGGGGGGCTCCC	0.577																																						dbGAP											0													49.0	50.0	50.0					17																	38253389		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"""Nuclear hormone receptors"""	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.299delC	17.37:g.38253389delG	ENSP00000246672:p.Pro100fs		Q0P5Z4|Q15304	Frame_Shift_Del	DEL	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.P100fs	ENST00000246672.3	37	c.299	CCDS11361.1	17																																																																																			NR1D1	-	NULL	ENSG00000126368		0.577	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D1	HGNC	protein_coding	OTTHUMT00000257135.1	99	0.00	0	G			38253389	38253389	-1	no_errors	ENST00000246672	ensembl	human	known	69_37n	frame_shift_del	139	12.58	20	DEL	0.266	-
NR1I3	9970	genome.wustl.edu	37	1	161201001	161201002	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:161201001_161201002insA	ENST00000367982.4	-	7	883_884	c.728_729insT	c.(727-729)ttgfs	p.L243fs	NR1I3_ENST00000479324.1_5'UTR|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.L164fs|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.L214fs|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.L210fs|NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.L243fs|NR1I3_ENST00000505005.1_Intron|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.L210fs|NR1I3_ENST00000367984.4_Intron|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.L210fs|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.L210fs|NR1I3_ENST00000367985.3_Intron|NR1I3_ENST00000515452.1_3'UTR|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.L210fs|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000367983.4_Frame_Shift_Ins_p.L239fs|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.L243fs|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.L239fs|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.L243fs			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	243					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGAGCAACTCCAAAAACTCTAC	0.525																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"""Nuclear hormone receptors"""	7969	protein-coding gene	gene with protein product	"""constitutive androstane receptor"""	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.729dupT	1.37:g.161201006_161201006dupA	ENSP00000356961:p.Leu243fs		E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Frame_Shift_Ins	INS	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.L243fs	ENST00000367982.4	37	c.729_728	CCDS41430.1	1																																																																																			NR1I3	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core	ENSG00000143257		0.525	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR1I3	HGNC	protein_coding	OTTHUMT00000083048.2	56	0.00	0	-			161201001	161201002	-1	no_errors	ENST00000367979	ensembl	human	known	69_37n	frame_shift_ins	66	17.50	14	INS	0.995:0.995	A
NRAS	4893	genome.wustl.edu	37	1	115256541	115256541	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:115256541T>G	ENST00000369535.4	-	3	423	c.170A>C	c.(169-171)gAt>gCt	p.D57A		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	57					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCAGCTGTATCCAGTATGTC	0.468		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												dbGAP		Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"""L, E"""	0													177.0	156.0	163.0					1																	115256541		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.170A>C	1.37:g.115256541T>G	ENSP00000358548:p.Asp57Ala		Q14971|Q15104|Q15282	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D57A	ENST00000369535.4	37	c.170	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.688552	0.88639	.	.	ENSG00000213281	ENST00000369535	D	0.86297	-2.1	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000019	D	0.96632	0.8901	H	0.99933	4.98	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.98442	1.0587	10	0.87932	D	0	.	15.0132	0.71565	0.0:0.0:0.0:1.0	.	57	P01111	RASN_HUMAN	A	57	ENSP00000358548:D57A	ENSP00000358548:D57A	D	-	2	0	NRAS	115058064	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	GAT	NRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000213281		0.468	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	HGNC	protein_coding	OTTHUMT00000033395.2	294	0.00	0	T	NM_002524		115256541	115256541	-1	no_errors	ENST00000369535	ensembl	human	known	69_37n	missense	244	14.98	43	SNP	1.000	G
NRIP3	56675	genome.wustl.edu	37	11	9009803	9009803	+	Silent	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:9009803G>T	ENST00000309166.3	-	2	314	c.201C>A	c.(199-201)cgC>cgA	p.R67R	NRIP3_ENST00000531090.1_Silent_p.R67R	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	67							aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		TTTCCATGAGGCGCCTCTGCA	0.517																																						dbGAP											0													94.0	90.0	91.0					11																	9009803		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AJ400877	CCDS31422.1	11p15.3	2008-02-05	2003-09-03	2003-09-05	ENSG00000175352	ENSG00000175352			1167	protein-coding gene	gene with protein product		613125	"""chromosome 11 open reading frame 14"""	C11orf14		11528127	Standard	NM_020645		Approved		uc001mhg.2	Q9NQ35	OTTHUMG00000165680	ENST00000309166.3:c.201C>A	11.37:g.9009803G>T			Q86WD9	Silent	SNP	pfam_Peptidase_aspartic_euk-pred,superfamily_Peptidase_aspartic	p.R67	ENST00000309166.3	37	c.201	CCDS31422.1	11																																																																																			NRIP3	-	NULL	ENSG00000175352		0.517	NRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRIP3	HGNC	protein_coding	OTTHUMT00000385774.1	124	0.00	0	G	NM_020645		9009803	9009803	-1	no_errors	ENST00000309166	ensembl	human	known	69_37n	silent	67	14.10	11	SNP	1.000	T
NRSN2	80023	genome.wustl.edu	37	20	330451	330451	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:330451G>A	ENST00000382291.3	+	3	404	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	NRSN2_ENST00000608736.1_Missense_Mutation_p.R55Q|RP5-1103G7.4_ENST00000442637.1_RNA|NRSN2_ENST00000492242.1_Intron|NRSN2_ENST00000382285.2_Missense_Mutation_p.R55Q	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	55						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				TGCCCCCGCCGGCCCTGGCCC	0.597																																						dbGAP											0													42.0	46.0	45.0					20																	330451		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.164G>A	20.37:g.330451G>A	ENSP00000371728:p.Arg55Gln		A8K3B2|Q6FII5|Q9NUD3	Missense_Mutation	SNP	NULL	p.R55Q	ENST00000382291.3	37	c.164	CCDS12996.1	20	.	.	.	.	.	.	.	.	.	.	G	3.719	-0.058039	0.07317	.	.	ENSG00000125841	ENST00000382291;ENST00000382285	T;T	0.16897	2.31;2.31	4.01	-5.61	0.02489	.	2.498500	0.01974	N	0.044320	T	0.08044	0.0201	N	0.05199	-0.095	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32268	-0.9913	10	0.48119	T	0.1	0.7147	6.3231	0.21229	0.6455:0.0:0.2111:0.1434	.	55	Q9GZP1	NRSN2_HUMAN	Q	55	ENSP00000371728:R55Q;ENSP00000371722:R55Q	ENSP00000371722:R55Q	R	+	2	0	NRSN2	278451	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.092000	0.11129	-1.046000	0.03246	-1.403000	0.01137	CGG	NRSN2	-	NULL	ENSG00000125841		0.597	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NRSN2	HGNC	protein_coding	OTTHUMT00000077446.1	69	0.00	0	G	NM_024958		330451	330451	+1	no_errors	ENST00000382285	ensembl	human	known	69_37n	missense	92	12.26	13	SNP	0.000	A
NRXN2	9379	genome.wustl.edu	37	11	64390490	64390490	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:64390490C>T	ENST00000377551.1	-	20	4119	c.3908G>A	c.(3907-3909)gGc>gAc	p.G1303D	NRXN2_ENST00000301894.2_Missense_Mutation_p.G257D|NRXN2_ENST00000265459.6_Missense_Mutation_p.G1303D|NRXN2_ENST00000409571.1_Missense_Mutation_p.G1296D|NRXN2_ENST00000377559.3_Missense_Mutation_p.G1233D			Q9P2S2	NRX2A_HUMAN	neurexin 2	1303	Laminin G-like 6. {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						GAAGGGGCGGCCCTGATCCCG	0.662																																						dbGAP											0																																										-	-	-	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.3908G>A	11.37:g.64390490C>T	ENSP00000366774:p.Gly1303Asp		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.G1303D	ENST00000377551.1	37	c.3908	CCDS8077.1	11	.	.	.	.	.	.	.	.	.	.	C	14.53	2.561574	0.45590	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571;ENST00000423049	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	4.08	4.08	0.47627	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	0.000000	0.43579	U	0.000555	D	0.83207	0.5204	L	0.60455	1.87	0.49483	D	0.999799	P;P;D;P	0.60575	0.875;0.821;0.988;0.927	P;P;D;P	0.64042	0.737;0.658;0.921;0.829	T	0.81331	-0.0981	10	0.30078	T	0.28	.	14.1923	0.65646	0.0:1.0:0.0:0.0	.	1233;1303;1049;257	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	D	257;1303;1233;1303;1233;1296;188	ENSP00000301894:G257D;ENSP00000366774:G1303D;ENSP00000366782:G1233D;ENSP00000265459:G1303D;ENSP00000386416:G1296D;ENSP00000407374:G188D	ENSP00000265459:G1303D	G	-	2	0	NRXN2	64147066	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.174000	0.50847	2.274000	0.75844	0.561000	0.74099	GGC	NRXN2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000110076		0.662	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	13	0.00	0	C	NM_015080		64390490	64390490	-1	no_errors	ENST00000265459	ensembl	human	known	69_37n	missense	17	22.73	5	SNP	1.000	T
NT5C1A	84618	genome.wustl.edu	37	1	40131204	40131204	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:40131204A>G	ENST00000235628.1	-	3	421	c.422T>C	c.(421-423)aTc>aCc	p.I141T		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	141					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ATAGTGGTTGATACTGTTGAT	0.582																																						dbGAP											0													108.0	84.0	92.0					1																	40131204		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"""cytosolic 5' nucleotidase, type 1A"", ""AMP-specific 5'-NT"", ""cytosolic 5'-nucleotidase IA"""	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.422T>C	1.37:g.40131204A>G	ENSP00000235628:p.Ile141Thr		Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	pfam_5-nucleotidase	p.I141T	ENST00000235628.1	37	c.422	CCDS440.1	1	.	.	.	.	.	.	.	.	.	.	A	17.06	3.292878	0.60086	.	.	ENSG00000116981	ENST00000235628	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.83050	0.5170	M	0.90650	3.135	0.80722	D	1	B	0.30664	0.289	P	0.44811	0.461	D	0.85163	0.0993	9	0.87932	D	0	-3.5205	15.5217	0.75871	1.0:0.0:0.0:0.0	.	141	Q9BXI3	5NT1A_HUMAN	T	141	.	ENSP00000235628:I141T	I	-	2	0	NT5C1A	39903791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.329000	0.96413	2.131000	0.65755	0.533000	0.62120	ATC	NT5C1A	-	pfam_5-nucleotidase	ENSG00000116981		0.582	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5C1A	HGNC	protein_coding	OTTHUMT00000025626.1	289	0.34	1	A	NM_032526		40131204	40131204	-1	no_errors	ENST00000235628	ensembl	human	known	69_37n	missense	309	16.71	62	SNP	1.000	G
NUAK2	81788	genome.wustl.edu	37	1	205275403	205275403	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:205275403A>C	ENST00000367157.3	-	5	729	c.603T>G	c.(601-603)caT>caG	p.H201Q		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACTTGCCTTGATGGTAGAGGT	0.557																																						dbGAP											0													117.0	113.0	114.0					1																	205275403		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.603T>G	1.37:g.205275403A>C	ENSP00000356125:p.His201Gln			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.H201Q	ENST00000367157.3	37	c.603	CCDS1453.1	1	.	.	.	.	.	.	.	.	.	.	A	3.643	-0.073031	0.07228	.	.	ENSG00000163545	ENST00000367157	T	0.64085	-0.08	5.74	0.149	0.14863	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.142736	0.32218	N	0.006405	T	0.26085	0.0636	N	0.02842	-0.48	0.24237	N	0.995371	B	0.14438	0.01	B	0.08055	0.003	T	0.12553	-1.0543	10	0.12430	T	0.62	.	3.171	0.06552	0.2293:0.1746:0.4942:0.1019	.	201	Q9H093	NUAK2_HUMAN	Q	201	ENSP00000356125:H201Q	ENSP00000356125:H201Q	H	-	3	2	NUAK2	203542026	0.699000	0.27786	1.000000	0.80357	0.995000	0.86356	-0.268000	0.08607	0.320000	0.23234	-0.242000	0.12053	CAT	NUAK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000163545		0.557	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK2	HGNC	protein_coding	OTTHUMT00000090390.1	171	0.58	1	A	NM_030952		205275403	205275403	-1	no_errors	ENST00000367157	ensembl	human	known	69_37n	missense	262	10.20	30	SNP	0.920	C
NUDT14	256281	genome.wustl.edu	37	14	105643085	105643085	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:105643085G>A	ENST00000392568.2	-	4	307	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	72	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ADP-ribose diphosphatase activity (GO:0047631)|metal ion binding (GO:0046872)|UDP-sugar diphosphatase activity (GO:0008768)	p.R72C(1)		cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GGGAAGCGGCGCTCCACCTCA	0.667										HNSCC(42;0.11)																												dbGAP											1	Substitution - Missense(1)	endometrium(1)											40.0	44.0	43.0					14																	105643085		2201	4289	6490	-	-	-	SO:0001583	missense	0			AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828		"""Nudix motif containing"""	20141	protein-coding gene	gene with protein product		609219				12429023	Standard	NM_177533		Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.214C>T	14.37:g.105643085G>A	ENSP00000376349:p.Arg72Cys		Q86SJ8	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,tigrfam_NDP_pyrophosphatase	p.R72C	ENST00000392568.2	37	c.214	CCDS10000.1	14	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119161	0.37436	.	.	ENSG00000183828	ENST00000392568;ENST00000535832	T	0.45276	0.9	3.96	1.13	0.20643	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.270402	0.33610	N	0.004740	T	0.29061	0.0722	L	0.39898	1.24	0.21579	N	0.999631	B	0.18310	0.027	B	0.15052	0.012	T	0.21930	-1.0231	10	0.66056	D	0.02	-14.291	5.7982	0.18399	0.3427:0.0:0.6573:0.0	.	72	O95848	NUD14_HUMAN	C	72	ENSP00000376349:R72C	ENSP00000376349:R72C	R	-	1	0	NUDT14	104714130	0.028000	0.19301	0.001000	0.08648	0.348000	0.29142	1.237000	0.32695	0.250000	0.21479	0.563000	0.77884	CGC	NUDT14	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,tigrfam_NDP_pyrophosphatase	ENSG00000183828		0.667	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT14	HGNC	protein_coding	OTTHUMT00000074544.4	22	0.00	0	G	NM_177533		105643085	105643085	-1	no_errors	ENST00000392568	ensembl	human	known	69_37n	missense	29	30.95	13	SNP	0.025	A
NUP205	23165	genome.wustl.edu	37	7	135261085	135261085	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:135261085T>C	ENST00000285968.6	+	4	437	c.411T>C	c.(409-411)gaT>gaC	p.D137D	NUP205_ENST00000440390.2_5'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	137					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TGTACTGGGATGGAAAGCGAT	0.418																																						dbGAP											0													162.0	155.0	157.0					7																	135261085		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.411T>C	7.37:g.135261085T>C			A6H8X3|Q86YC1	Silent	SNP	pfam_DUF3414	p.D137	ENST00000285968.6	37	c.411	CCDS34759.1	7																																																																																			NUP205	-	pfam_DUF3414	ENSG00000155561		0.418	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1	282	0.00	0	T			135261085	135261085	+1	no_errors	ENST00000285968	ensembl	human	known	69_37n	silent	65	12.16	9	SNP	1.000	C
NUP210L	91181	genome.wustl.edu	37	1	154125327	154125327	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:154125327T>C	ENST00000368559.3	-	2	296	c.225A>G	c.(223-225)gcA>gcG	p.A75A	NUP210L_ENST00000271854.3_Silent_p.A75A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	75					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CAACAGTAACTGCATCATGAT	0.398																																						dbGAP											0													104.0	98.0	100.0					1																	154125327		1902	4130	6032	-	-	-	SO:0001819	synonymous_variant	0			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.225A>G	1.37:g.154125327T>C			E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.A75	ENST00000368559.3	37	c.225	CCDS41399.1	1																																																																																			NUP210L	-	NULL	ENSG00000143552		0.398	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3	228	0.00	0	T	NM_207308		154125327	154125327	-1	no_errors	ENST00000368559	ensembl	human	known	69_37n	silent	124	18.42	28	SNP	1.000	C
NVL	4931	genome.wustl.edu	37	1	224492453	224492453	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:224492453A>G	ENST00000281701.6	-	8	1069	c.810T>C	c.(808-810)aaT>aaC	p.N270N	NVL_ENST00000340871.4_Silent_p.N54N|NVL_ENST00000361463.3_Silent_p.N164N|NVL_ENST00000469075.1_Silent_p.N179N|RNU6-1008P_ENST00000384160.1_RNA|NVL_ENST00000482491.1_5'UTR|NVL_ENST00000391875.2_Silent_p.N164N	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	270						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		ATGTCATATCATTGCCTCCCA	0.338																																						dbGAP											0													141.0	147.0	145.0					1																	224492453		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.810T>C	1.37:g.224492453A>G			B4DMC4|B4DP98|Q96EM7	Nonstop_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_Zeta_toxin_domain,smart_AAA+_ATPase	p.*153R	ENST00000281701.6	37	c.457	CCDS1541.1	1	.	.	.	.	.	.	.	.	.	.	A	8.497	0.863430	0.17250	.	.	ENSG00000143748	ENST00000469968	.	.	.	5.35	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.7711	8.7991	0.34898	0.8466:0.0:0.1534:0.0	.	.	.	.	R	153	.	.	X	-	1	0	NVL	222559076	1.000000	0.71417	0.998000	0.56505	0.891000	0.51852	2.112000	0.41892	0.862000	0.35528	0.533000	0.62120	TGA	NVL	-	NULL	ENSG00000143748		0.338	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NVL	HGNC	protein_coding	OTTHUMT00000091453.2	146	0.00	0	A	NM_002533		224492453	224492453	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000469968	ensembl	human	novel	69_37n	nonstop	109	16.15	21	SNP	1.000	G
NXF1	10482	genome.wustl.edu	37	11	62567879	62567879	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:62567879T>G	ENST00000532297.1	-	11	1615	c.986A>C	c.(985-987)gAc>gCc	p.D329A	NXF1_ENST00000531709.2_Missense_Mutation_p.D329A|NXF1_ENST00000294172.2_Missense_Mutation_p.D329A|NXF1_ENST00000531131.1_Missense_Mutation_p.D192A|NXF1_ENST00000439713.2_Missense_Mutation_p.D329A			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	329					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGGAAGGTGTCACACAGGGA	0.547																																						dbGAP											0													168.0	117.0	134.0					11																	62567879		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.986A>C	11.37:g.62567879T>G	ENSP00000436679:p.Asp329Ala		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.D329A	ENST00000532297.1	37	c.986	CCDS8037.1	11	.	.	.	.	.	.	.	.	.	.	T	8.171	0.791716	0.16258	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	4.91	3.72	0.42706	.	0.149485	0.56097	D	0.000022	T	0.40015	0.1100	L	0.43152	1.355	0.53005	D	0.999967	B;B;B;B	0.13145	0.0;0.001;0.004;0.007	B;B;B;B	0.14023	0.001;0.003;0.002;0.01	T	0.18650	-1.0330	10	0.14656	T	0.56	-21.873	10.0909	0.42447	0.0:0.0:0.1677:0.8323	.	192;372;342;329	B4E227;E9PIN3;Q59E96;Q9UBU9	.;.;.;NXF1_HUMAN	A	329;329;372;329	ENSP00000294172:D329A;ENSP00000436679:D329A;ENSP00000435742:D372A;ENSP00000408864:D329A	ENSP00000294172:D329A	D	-	2	0	NXF1	62324455	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	4.660000	0.61511	2.055000	0.61198	0.528000	0.53228	GAC	NXF1	-	NULL	ENSG00000162231		0.547	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	HGNC	protein_coding	OTTHUMT00000395365.2	258	0.00	0	T	NM_006362		62567879	62567879	-1	no_errors	ENST00000294172	ensembl	human	known	69_37n	missense	199	30.42	87	SNP	0.999	G
NXPE1	120400	genome.wustl.edu	37	11	114392902	114392902	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:114392902C>T	ENST00000424269.1	-	5	1431	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	NXPE1_ENST00000251921.2_Missense_Mutation_p.E336K|NXPE1_ENST00000536271.1_Missense_Mutation_p.E194K			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	478						extracellular region (GO:0005576)											CTGATGTTTTCTGTCTTAATA	0.393																																						dbGAP											0													166.0	166.0	166.0					11																	114392902		2201	4296	6497	-	-	-	SO:0001583	missense	0			BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.1432G>A	11.37:g.114392902C>T	ENSP00000411690:p.Glu478Lys		B0YJ13	Missense_Mutation	SNP	superfamily_Ig_E-set	p.E478K	ENST00000424269.1	37	c.1432		11	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363781	0.82353	.	.	ENSG00000095110	ENST00000536271;ENST00000251921;ENST00000424269	T;T;T	0.27720	1.65;1.65;1.65	4.64	4.64	0.57946	.	0.000000	0.64402	D	0.000002	T	0.58264	0.2110	M	0.89287	3.02	0.30647	N	0.755889	D	0.89917	1.0	D	0.97110	1.0	T	0.62530	-0.6835	10	0.08599	T	0.76	.	16.9551	0.86257	0.0:1.0:0.0:0.0	.	478	Q8N323	FA55A_HUMAN	K	194;336;478	ENSP00000445200:E194K;ENSP00000251921:E336K;ENSP00000411690:E478K	ENSP00000251921:E336K	E	-	1	0	FAM55A	113898112	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.595000	0.67563	2.511000	0.84671	0.650000	0.86243	GAA	NXPE1	-	NULL	ENSG00000095110		0.393	NXPE1-201	KNOWN	basic	protein_coding	NXPE1	HGNC	protein_coding		241	0.00	0	C	NM_152315		114392902	114392902	-1	no_errors	ENST00000424269	ensembl	human	known	69_37n	missense	35	14.63	6	SNP	1.000	T
NXPE1	120400	genome.wustl.edu	37	11	114392904	114392905	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:114392904_114392905insA	ENST00000424269.1	-	5	1428_1429	c.1429_1430insT	c.(1429-1431)acafs	p.T477fs	NXPE1_ENST00000251921.2_Frame_Shift_Ins_p.T335fs|NXPE1_ENST00000536271.1_Frame_Shift_Ins_p.T193fs			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	477						extracellular region (GO:0005576)											GATGTTTTCTGTCTTAATAATC	0.396																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.1429_1430insT	11.37:g.114392904_114392905insA	ENSP00000411690:p.Thr477fs		B0YJ13	Frame_Shift_Ins	INS	superfamily_Ig_E-set	p.T477fs	ENST00000424269.1	37	c.1430_1429		11																																																																																			NXPE1	-	NULL	ENSG00000095110		0.396	NXPE1-201	KNOWN	basic	protein_coding	NXPE1	HGNC	protein_coding		234	0.00	0	-	NM_152315		114392904	114392905	-1	no_errors	ENST00000424269	ensembl	human	known	69_37n	frame_shift_ins	31	18.42	7	INS	1.000:1.000	A
NXPE1	120400	genome.wustl.edu	37	11	114392909	114392909	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:114392909A>C	ENST00000424269.1	-	5	1424	c.1425T>G	c.(1423-1425)atT>atG	p.I475M	NXPE1_ENST00000251921.2_Missense_Mutation_p.I333M|NXPE1_ENST00000536271.1_Missense_Mutation_p.I191M			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	475						extracellular region (GO:0005576)											TTTCTGTCTTAATAATCACTT	0.393																																						dbGAP											0													158.0	158.0	158.0					11																	114392909		2201	4296	6497	-	-	-	SO:0001583	missense	0			BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.1425T>G	11.37:g.114392909A>C	ENSP00000411690:p.Ile475Met		B0YJ13	Missense_Mutation	SNP	superfamily_Ig_E-set	p.I475M	ENST00000424269.1	37	c.1425		11	.	.	.	.	.	.	.	.	.	.	A	16.04	3.011188	0.54361	.	.	ENSG00000095110	ENST00000536271;ENST00000251921;ENST00000424269	T;T;T	0.19532	2.14;2.14;2.14	4.64	2.19	0.27852	.	0.584437	0.15942	N	0.237142	T	0.41073	0.1143	M	0.84948	2.725	0.25627	N	0.986347	D	0.53885	0.963	P	0.60345	0.873	T	0.23691	-1.0181	10	0.87932	D	0	.	5.2211	0.15370	0.634:0.1924:0.1736:0.0	.	475	Q8N323	FA55A_HUMAN	M	191;333;475	ENSP00000445200:I191M;ENSP00000251921:I333M;ENSP00000411690:I475M	ENSP00000251921:I333M	I	-	3	3	FAM55A	113898119	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	0.788000	0.26872	0.293000	0.22520	0.528000	0.53228	ATT	NXPE1	-	NULL	ENSG00000095110		0.393	NXPE1-201	KNOWN	basic	protein_coding	NXPE1	HGNC	protein_coding		231	0.00	0	A	NM_152315		114392909	114392909	-1	no_errors	ENST00000424269	ensembl	human	known	69_37n	missense	31	18.42	7	SNP	0.996	C
MRPL9	65005	genome.wustl.edu	37	1	151735645	151735645	+	Intron	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:151735645T>C	ENST00000368830.3	-	2	238				OAZ3_ENST00000479764.1_5'Flank|RP11-98D18.3_ENST00000512280.1_RNA|MRPL9_ENST00000368829.3_Intron|OAZ3_ENST00000315067.8_Splice_Site|OAZ3_ENST00000321531.5_Splice_Site|RP11-98D18.2_ENST00000420382.1_RNA|MRPL9_ENST00000467306.1_Intron|OAZ3_ENST00000453029.2_5'Flank	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAAGCGACGGTAAGCTAGTCT	0.697																																						dbGAP											0													18.0	20.0	19.0					1																	151735645		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			AK026363	CCDS1003.1, CCDS72916.1	1q21	2012-09-13			ENSG00000143436	ENSG00000143436		"""Mitochondrial ribosomal proteins / large subunits"""	14277	protein-coding gene	gene with protein product		611824					Standard	XM_005245455		Approved		uc001eyv.3	Q9BYD2	OTTHUMG00000013063	ENST00000368830.3:c.154-23A>G	1.37:g.151735645T>C			B2RD99|Q5SZR2|Q9BSW8	Splice_Site	SNP	-	e1+2	ENST00000368830.3	37	c.32+2	CCDS1003.1	1	.	.	.	.	.	.	.	.	.	.	T	11.08	1.533439	0.27387	.	.	ENSG00000143450	ENST00000418982;ENST00000315067	.	.	.	4.48	2.08	0.27032	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.1749	0.06565	0.2071:0.111:0.0:0.6818	.	.	.	.	.	-1	.	.	.	+	.	.	OAZ3	150002269	0.020000	0.18652	0.028000	0.17463	0.080000	0.17528	2.171000	0.42453	1.876000	0.54355	0.460000	0.39030	.	OAZ3	-	-	ENSG00000143450		0.697	MRPL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAZ3	HGNC	protein_coding	OTTHUMT00000036653.2	34	0.00	0	T	NM_031420		151735645	151735645	+1	no_errors	ENST00000315067	ensembl	human	known	69_37n	splice_site	75	12.79	11	SNP	0.003	C
OBSCN	84033	genome.wustl.edu	37	1	228400246	228400246	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:228400246C>T	ENST00000422127.1	+	2	806	c.762C>T	c.(760-762)caC>caT	p.H254H	OBSCN_ENST00000366709.4_5'UTR|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000570156.2_Silent_p.H254H|OBSCN_ENST00000284548.11_Silent_p.H254H|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	254	Ig-like 3.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AAGGCAAGCACGCGCGCCTCA	0.736																																						dbGAP											0													28.0	33.0	31.0					1																	228400246		2107	4210	6317	-	-	-	SO:0001819	synonymous_variant	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.762C>T	1.37:g.228400246C>T			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.H254	ENST00000422127.1	37	c.762	CCDS58065.1	1																																																																																			OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000154358		0.736	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		35	0.00	0	C	NM_052843		228400246	228400246	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	silent	52	28.77	21	SNP	1.000	T
TENM3	55714	genome.wustl.edu	37	4	183522272	183522272	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:183522272A>G	ENST00000511685.1	+	4	830	c.707A>G	c.(706-708)cAg>cGg	p.Q236R	TENM3_ENST00000406950.2_Missense_Mutation_p.Q236R			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	236	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTCCAGCTGCAGGACAGCTGG	0.532																																						dbGAP											0													70.0	76.0	74.0					4																	183522272		1879	4107	5986	-	-	-	SO:0001583	missense	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.707A>G	4.37:g.183522272A>G	ENSP00000424226:p.Gln236Arg		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.Q236R	ENST00000511685.1	37	c.707	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	A	20.7	4.026784	0.75390	.	.	ENSG00000218336	ENST00000511685;ENST00000406950;ENST00000510504	T;T;T	0.38401	1.14;1.14;1.14	5.78	5.78	0.91487	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.54334	0.1852	L	0.50333	1.59	0.53005	D	0.999962	P	0.49559	0.925	D	0.65140	0.932	T	0.54873	-0.8228	9	0.66056	D	0.02	.	16.1015	0.81175	1.0:0.0:0.0:0.0	.	236	Q9P273	TEN3_HUMAN	R	236;236;94	ENSP00000424226:Q236R;ENSP00000385276:Q236R;ENSP00000426914:Q94R	ENSP00000385276:Q236R	Q	+	2	0	ODZ3	183759266	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.957000	0.93082	2.194000	0.70268	0.455000	0.32223	CAG	ODZ3	-	pfam_Ten_N	ENSG00000218336		0.532	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ3	HGNC	protein_coding	OTTHUMT00000361734.1	28	0.00	0	A			183522272	183522272	+1	no_errors	ENST00000406950	ensembl	human	known	69_37n	missense	55	12.50	8	SNP	1.000	G
TENM3	55714	genome.wustl.edu	37	4	183658075	183658075	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:183658075C>A	ENST00000511685.1	+	17	3205	c.3082C>A	c.(3082-3084)Cca>Aca	p.P1028T	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.P1028T			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1028					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTCTATTATTCCATTTAATTT	0.398																																						dbGAP											0													115.0	107.0	109.0					4																	183658075		1832	4093	5925	-	-	-	SO:0001583	missense	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3082C>A	4.37:g.183658075C>A	ENSP00000424226:p.Pro1028Thr		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.P1028T	ENST00000511685.1	37	c.3082	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082116	0.76528	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.92965	-3.14;-3.14	4.78	4.78	0.61160	.	.	.	.	.	D	0.96645	0.8905	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.97415	1.0005	9	0.87932	D	0	.	18.0057	0.89209	0.0:1.0:0.0:0.0	.	1028	Q9P273	TEN3_HUMAN	T	1028	ENSP00000424226:P1028T;ENSP00000385276:P1028T	ENSP00000385276:P1028T	P	+	1	0	ODZ3	183895069	1.000000	0.71417	0.841000	0.33234	0.748000	0.42578	7.616000	0.83018	2.484000	0.83849	0.561000	0.74099	CCA	ODZ3	-	NULL	ENSG00000218336		0.398	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ3	HGNC	protein_coding	OTTHUMT00000361734.1	103	0.00	0	C			183658075	183658075	+1	no_errors	ENST00000406950	ensembl	human	known	69_37n	missense	22	18.52	5	SNP	1.000	A
TENM3	55714	genome.wustl.edu	37	4	183658078	183658078	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:183658078T>A	ENST00000511685.1	+	17	3208	c.3085T>A	c.(3085-3087)Ttt>Att	p.F1029I	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.F1029I			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1029					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TATTATTCCATTTAATTTAAT	0.403																																						dbGAP											0													115.0	107.0	110.0					4																	183658078		1829	4092	5921	-	-	-	SO:0001583	missense	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3085T>A	4.37:g.183658078T>A	ENSP00000424226:p.Phe1029Ile		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.F1029I	ENST00000511685.1	37	c.3085	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	T	14.87	2.663156	0.47572	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86097	-2.07;-2.07	4.78	4.78	0.61160	.	.	.	.	.	D	0.87573	0.6211	L	0.35723	1.085	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	D	0.86832	0.2011	9	0.37606	T	0.19	.	14.4754	0.67541	0.0:0.0:0.0:1.0	.	1029	Q9P273	TEN3_HUMAN	I	1029	ENSP00000424226:F1029I;ENSP00000385276:F1029I	ENSP00000385276:F1029I	F	+	1	0	ODZ3	183895072	1.000000	0.71417	0.920000	0.36463	0.795000	0.44927	6.105000	0.71505	2.010000	0.58986	0.459000	0.35465	TTT	ODZ3	-	NULL	ENSG00000218336		0.403	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ3	HGNC	protein_coding	OTTHUMT00000361734.1	105	0.00	0	T			183658078	183658078	+1	no_errors	ENST00000406950	ensembl	human	known	69_37n	missense	21	22.22	6	SNP	0.999	A
TENM3	55714	genome.wustl.edu	37	4	183714430	183714430	+	Missense_Mutation	SNP	C	C	T	rs146065963	byFrequency	TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:183714430C>T	ENST00000511685.1	+	26	6728	c.6605C>T	c.(6604-6606)aCg>aTg	p.T2202M	TENM3_ENST00000406950.2_Missense_Mutation_p.T2202M			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2202					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.T2202M(2)									CAAAGGGGCACGGAAATCTTT	0.502													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19911	0.0		0.001	False		,,,				2504	0.0					dbGAP											2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)											102.0	101.0	102.0					4																	183714430		1915	4126	6041	-	-	-	SO:0001583	missense	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6605C>T	4.37:g.183714430C>T	ENSP00000424226:p.Thr2202Met		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.T2202M	ENST00000511685.1	37	c.6605	CCDS47165.1	4	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	12.51	1.959437	0.34565	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.87103	-2.21;-2.21	4.89	4.89	0.63831	.	.	.	.	.	D	0.84777	0.5547	L	0.49571	1.57	0.48901	D	0.99972	D	0.57257	0.979	B	0.41299	0.353	D	0.87211	0.2247	9	0.59425	D	0.04	.	18.2684	0.90060	0.0:1.0:0.0:0.0	.	2202	Q9P273	TEN3_HUMAN	M	2202	ENSP00000424226:T2202M;ENSP00000385276:T2202M	ENSP00000385276:T2202M	T	+	2	0	ODZ3	183951424	1.000000	0.71417	0.993000	0.49108	0.822000	0.46500	5.817000	0.69229	2.534000	0.85438	0.563000	0.77884	ACG	ODZ3	-	superfamily_Cyt_c_dom	ENSG00000218336		0.502	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ3	HGNC	protein_coding	OTTHUMT00000361734.1	166	0.00	0	C			183714430	183714430	+1	no_errors	ENST00000406950	ensembl	human	known	69_37n	missense	105	25.00	35	SNP	0.998	T
OGFOD1	55239	genome.wustl.edu	37	16	56492433	56492433	+	Intron	DEL	T	T	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:56492433delT	ENST00000566157.1	+	3	423				OGFOD1_ENST00000565209.1_3'UTR|OGFOD1_ENST00000568397.1_Intron	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1						cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	AGGAAATCCCTTTTTTTTCTC	0.403																																						dbGAP											0													126.0	113.0	117.0					16																	56492433		2198	4300	6498	-	-	-	SO:0001627	intron_variant	0			BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.301-27T>-	16.37:g.56492433delT			H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Frame_Shift_Del	DEL	NULL	p.S106fs	ENST00000566157.1	37	c.309	CCDS10761.2	16																																																																																			OGFOD1	-	NULL	ENSG00000087263		0.403	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGFOD1	HGNC	protein_coding	OTTHUMT00000256976.3	218	0.00	0	T	NM_018233		56492433	56492433	+1	no_errors	ENST00000565682	ensembl	human	known	69_37n	frame_shift_del	104	23.24	33	DEL	0.001	-
OR10A6	390093	genome.wustl.edu	37	11	7949269	7949269	+	Missense_Mutation	SNP	A	A	T	rs371153779		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:7949269A>T	ENST00000309838.2	-	1	940	c.941T>A	c.(940-942)aTc>aAc	p.I314N		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACACAGTCAGATTGTGTGTAA	0.363																																						dbGAP											0													115.0	103.0	107.0					11																	7949269		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.941T>A	11.37:g.7949269A>T	ENSP00000312470:p.Ile314Asn		Q6IF59	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.I314N	ENST00000309838.2	37	c.941	CCDS31420.1	11	.	.	.	.	.	.	.	.	.	.	A	3.722	-0.057368	0.07317	.	.	ENSG00000175393	ENST00000309838	T	0.06218	3.33	4.19	3.03	0.35002	.	1.216660	0.06244	N	0.691017	T	0.05090	0.0136	N	0.14661	0.345	0.09310	N	1	B	0.25169	0.119	B	0.19946	0.027	T	0.40308	-0.9570	10	0.87932	D	0	.	7.5317	0.27687	0.7682:0.2318:0.0:0.0	.	314	Q8NH74	O10A6_HUMAN	N	314	ENSP00000312470:I314N	ENSP00000312470:I314N	I	-	2	0	OR10A6	7905845	0.000000	0.05858	0.019000	0.16419	0.014000	0.08584	-0.349000	0.07731	0.744000	0.32741	0.533000	0.62120	ATC	OR10A6	-	NULL	ENSG00000175393		0.363	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A6	HGNC	protein_coding	OTTHUMT00000385703.1	126	0.00	0	A	NM_001004461		7949269	7949269	-1	no_errors	ENST00000309838	ensembl	human	known	69_37n	missense	5	37.50	3	SNP	0.046	T
OR10AG1	282770	genome.wustl.edu	37	11	55735723	55735723	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:55735723G>A	ENST00000312345.2	-	1	267	c.217C>T	c.(217-219)Ctc>Ttc	p.L73F		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ATGTCCATGAGCATTCTTGGG	0.368																																						dbGAP											0													72.0	79.0	77.0					11																	55735723		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.217C>T	11.37:g.55735723G>A	ENSP00000311477:p.Leu73Phe		B2RNH4|Q6IEU3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L73F	ENST00000312345.2	37	c.217	CCDS31514.1	11	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163804	0.38217	.	.	ENSG00000174970	ENST00000312345	T	0.00419	7.48	5.47	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.199563	0.21746	N	0.069758	T	0.01592	0.0051	H	0.95004	3.61	0.28227	N	0.926262	D	0.89917	1.0	D	0.76575	0.988	T	0.11397	-1.0589	10	0.87932	D	0	.	8.3513	0.32303	0.1774:0.0:0.8226:0.0	.	73	Q8NH19	O10AG_HUMAN	F	73	ENSP00000311477:L73F	ENSP00000311477:L73F	L	-	1	0	OR10AG1	55492299	0.006000	0.16342	0.864000	0.33941	0.351000	0.29236	-0.071000	0.11505	1.349000	0.45751	0.477000	0.44152	CTC	OR10AG1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000174970		0.368	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10AG1	HGNC	protein_coding	OTTHUMT00000391531.1	73	0.00	0	G	NM_001005491		55735723	55735723	-1	no_errors	ENST00000312345	ensembl	human	known	69_37n	missense	22	12.00	3	SNP	0.902	A
OR10H4	126541	genome.wustl.edu	37	19	16060449	16060449	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:16060449G>A	ENST00000322107.1	+	1	632	c.632G>A	c.(631-633)gGc>gAc	p.G211D		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GCCCTGATAGGCTGTTTATTC	0.473																																						dbGAP											0													300.0	270.0	280.0					19																	16060449		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"""GPCR / Class A : Olfactory receptors"""	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.632G>A	19.37:g.16060449G>A	ENSP00000318834:p.Gly211Asp		Q6IFJ2|Q96R57	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G211D	ENST00000322107.1	37	c.632	CCDS32941.1	19	.	.	.	.	.	.	.	.	.	.	g	8.081	0.772360	0.16051	.	.	ENSG00000176231	ENST00000322107	T	0.37915	1.17	1.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.345909	0.20765	U	0.086091	T	0.58736	0.2143	M	0.86740	2.835	0.18873	N	0.999986	D	0.76494	0.999	D	0.76071	0.987	T	0.45789	-0.9237	10	0.48119	T	0.1	.	8.6119	0.33808	0.0:0.0:1.0:0.0	.	211	Q8NGA5	O10H4_HUMAN	D	211	ENSP00000318834:G211D	ENSP00000318834:G211D	G	+	2	0	OR10H4	15921449	0.000000	0.05858	0.771000	0.31576	0.030000	0.12068	-1.347000	0.02632	0.839000	0.34971	0.484000	0.47621	GGC	OR10H4	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000176231		0.473	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H4	HGNC	protein_coding	OTTHUMT00000460311.1	687	0.14	1	G			16060449	16060449	+1	no_errors	ENST00000322107	ensembl	human	known	69_37n	missense	130	27.87	51	SNP	0.168	A
OR1E2	8388	genome.wustl.edu	37	17	3336293	3336293	+	Silent	SNP	A	A	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:3336293A>C	ENST00000248384.1	-	1	842	c.843T>G	c.(841-843)acT>acG	p.T281T		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	281					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			endometrium(3)|large_intestine(3)|lung(3)	9						TAGCCATGACAGTGTCCTTTA	0.493																																						dbGAP											0													92.0	79.0	83.0					17																	3336293		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U04686	CCDS11026.1	17p13.3	2012-08-09			ENSG00000127780	ENSG00000127780		"""GPCR / Class A : Olfactory receptors"""	8190	protein-coding gene	gene with protein product				OR1E4		8004088, 9500546	Standard	NM_003554		Approved	OR17-93, OR17-135	uc010vre.2	P47887	OTTHUMG00000090651	ENST00000248384.1:c.843T>G	17.37:g.3336293A>C			O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T281	ENST00000248384.1	37	c.843	CCDS11026.1	17																																																																																			OR1E2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000127780		0.493	OR1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1E2	HGNC	protein_coding	OTTHUMT00000207311.1	177	0.00	0	A			3336293	3336293	-1	no_errors	ENST00000248384	ensembl	human	known	69_37n	silent	77	12.50	11	SNP	0.000	C
OR2F2	135948	genome.wustl.edu	37	7	143632733	143632733	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:143632733G>A	ENST00000408955.2	+	1	475	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CGGCCATCATGCATGGAGGGC	0.567																																						dbGAP											0													124.0	111.0	115.0					7																	143632733		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.408G>A	7.37:g.143632733G>A	ENSP00000386222:p.Met136Ile		A4D2G0|Q6IFP8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.M136I	ENST00000408955.2	37	c.408	CCDS43666.1	7	.	.	.	.	.	.	.	.	.	.	G	4.831	0.154583	0.09236	.	.	ENSG00000221910	ENST00000408955	T	0.23348	1.91	3.68	1.86	0.25419	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.28599	0.0708	M	0.84082	2.675	0.26464	N	0.975399	B	0.29552	0.248	B	0.29598	0.104	T	0.27606	-1.0069	10	0.66056	D	0.02	-50.8124	6.0919	0.19999	0.1043:0.0:0.7089:0.1869	.	136	O95006	OR2F2_HUMAN	I	136	ENSP00000386222:M136I	ENSP00000386222:M136I	M	+	3	0	OR2F2	143263666	1.000000	0.71417	0.025000	0.17156	0.037000	0.13140	3.745000	0.55119	0.357000	0.24183	-0.336000	0.08194	ATG	OR2F2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000221910		0.567	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2F2	HGNC	protein_coding	OTTHUMT00000349570.1	446	0.00	0	G			143632733	143632733	+1	no_errors	ENST00000408955	ensembl	human	known	69_37n	missense	237	16.84	48	SNP	0.740	A
OR9G4	283189	genome.wustl.edu	37	11	56510933	56510933	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:56510933delA	ENST00000302957.3	-	1	354	c.355delT	c.(355-357)tccfs	p.S119fs		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ACAACACAGGAAAAAAACAGC	0.473																																						dbGAP											0													101.0	106.0	104.0					11																	56510933		2201	4296	6497	-	-	-	SO:0001589	frameshift_variant	0			BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.355delT	11.37:g.56510933delA	ENSP00000307515:p.Ser119fs		Q6IF62|Q96RA9	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.S119fs	ENST00000302957.3	37	c.355	CCDS31537.1	11																																																																																			OR9G4	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000172457		0.473	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9G4	HGNC	protein_coding	OTTHUMT00000391945.1	68	0.00	0	A	NM_001005284		56510933	56510933	-1	no_errors	ENST00000302957	ensembl	human	known	69_37n	frame_shift_del	21	22.22	6	DEL	0.823	-
OVOL1	5017	genome.wustl.edu	37	11	65562191	65562191	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:65562191T>C	ENST00000335987.3	+	3	853	c.501T>C	c.(499-501)acT>acC	p.T167T	RP11-770G2.5_ENST00000531155.1_RNA|OVOL1_ENST00000532448.1_Silent_p.T105T	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	167					cytoskeleton organization (GO:0007010)|epidermal cell differentiation (GO:0009913)|germline cell cycle switching, mitotic to meiotic cell cycle (GO:0051729)|kidney development (GO:0001822)|mesoderm development (GO:0007498)|negative regulation of meiotic cell cycle phase transition (GO:1901994)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		ACGTCCGAACTCACACTGGTA	0.627																																						dbGAP											0													105.0	84.0	91.0					11																	65562191		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			BC059408	CCDS8112.1	11q13	2013-10-17	2013-10-17		ENSG00000172818	ENSG00000172818		"""Zinc fingers, C2H2-type"""	8525	protein-coding gene	gene with protein product		602313	"""ovo (Drosophila) homolog-like 1"", ""ovo-like 1(Drosophila)"""			9383297	Standard	NM_004561		Approved	HOVO1	uc001ofp.3	O14753	OTTHUMG00000166600	ENST00000335987.3:c.501T>C	11.37:g.65562191T>C			Q6PCB1	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T167	ENST00000335987.3	37	c.501	CCDS8112.1	11																																																																																			OVOL1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000172818		0.627	OVOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVOL1	HGNC	protein_coding	OTTHUMT00000390690.1	113	0.00	0	T	NM_004561		65562191	65562191	+1	no_errors	ENST00000335987	ensembl	human	known	69_37n	silent	131	10.88	16	SNP	0.953	C
OR8D1	283159	genome.wustl.edu	37	11	124179975	124179976	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:124179975_124179976insAT	ENST00000357821.2	-	1	757_758	c.687_688insAT	c.(685-690)cgctccfs	p.S230fs		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CCCTCTGAGGAGCGGATGTGAA	0.5																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.687_688insAT	11.37:g.124179975_124179976insAT	ENSP00000350474:p.Ser230fs		B2RNL4|Q6IEW1|Q8NGH0	Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S229fs	ENST00000357821.2	37	c.688_687	CCDS31706.1	11																																																																																			OR8D1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196341		0.500	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D1	HGNC	protein_coding	OTTHUMT00000387285.1	37	0.00	0	-	NM_001002917		124179975	124179976	-1	no_errors	ENST00000357821	ensembl	human	known	69_37n	frame_shift_ins	3	57.14	4	INS	0.020:0.000	AT
OR8D1	283159	genome.wustl.edu	37	11	124179976	124179977	+	Missense_Mutation	DNP	GC	GC	AA	rs143412660	byFrequency	TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:124179976_124179977GC>AA	ENST00000357821.2	-	1	756_757	c.686_687GC>TT	c.(685-687)cGC>cTT	p.R229L		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CCTCTGAGGAGCGGATGTGAAG	0.5																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.686_687delinsAA	11.37:g.124179976_124179977delinsAA	ENSP00000350474:p.Arg229Leu		B2RNL4|Q6IEW1|Q8NGH0	Silent|Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R229|p.R229L	ENST00000357821.2	37	c.687|c.686	CCDS31706.1	11																																																																																			OR8D1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196341		0.500	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D1	HGNC	protein_coding	OTTHUMT00000387285.1	38	0.00	0	G|C	NM_001002917		124179976|124179977	124179976|124179977	-1	no_errors	ENST00000357821	ensembl	human	known	69_37n	silent|missense	5	44.44	4	SNP	0.000	A
OR8B12	219858	genome.wustl.edu	37	11	124413044	124413044	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:124413044A>G	ENST00000306842.2	-	1	531	c.507T>C	c.(505-507)gcT>gcC	p.A169A		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	169						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(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CAAGGTTGTCAGCACAGAAGG	0.502																																						dbGAP											0													161.0	124.0	136.0					11																	124413044		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.507T>C	11.37:g.124413044A>G			B2RNF6|Q6IEW8|Q96RC7	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A169	ENST00000306842.2	37	c.507	CCDS31711.1	11																																																																																			OR8B12	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000170953		0.502	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B12	HGNC	protein_coding	OTTHUMT00000387061.1	239	0.00	0	A			124413044	124413044	-1	no_errors	ENST00000306842	ensembl	human	known	69_37n	silent	31	13.89	5	SNP	0.000	G
OVOL2	58495	genome.wustl.edu	37	20	18005359	18005359	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:18005359A>G	ENST00000278780.6	-	4	991	c.749T>C	c.(748-750)cTg>cCg	p.L250P	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	250					angiogenesis (GO:0001525)|dorsal/ventral pattern formation (GO:0009953)|embryonic digestive tract morphogenesis (GO:0048557)|endocardium formation (GO:0060214)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of keratinocyte proliferation (GO:0010837)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						AAGGGCTGCCAGTTTTTTAGA	0.577																																						dbGAP											0													104.0	92.0	96.0					20																	18005359		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022284	CCDS13132.1	20p11.23	2013-10-17	2013-10-17	2005-05-31	ENSG00000125850	ENSG00000125850		"""Zinc fingers, C2H2-type"""	15804	protein-coding gene	gene with protein product			"""zinc finger protein 339"", ""ovo-like 2 (Drosophila)"""	ZNF339			Standard	NM_021220		Approved	bA504H3.3, HOVO2	uc002wqi.1	Q9BRP0	OTTHUMG00000031960	ENST00000278780.6:c.749T>C	20.37:g.18005359A>G	ENSP00000278780:p.Leu250Pro		Q5T8B4|Q9BX22|Q9HA54|Q9Y4M0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L250P	ENST00000278780.6	37	c.749	CCDS13132.1	20	.	.	.	.	.	.	.	.	.	.	A	13.63	2.293207	0.40594	.	.	ENSG00000125850	ENST00000278780	T	0.09350	2.99	5.25	5.25	0.73442	.	0.083266	0.49916	D	0.000125	T	0.27866	0.0686	L	0.53249	1.67	0.58432	D	0.999999	D	0.89917	1.0	D	0.69307	0.963	T	0.00880	-1.1529	10	0.59425	D	0.04	-19.1152	15.1478	0.72671	1.0:0.0:0.0:0.0	.	250	Q9BRP0	OVOL2_HUMAN	P	250	ENSP00000278780:L250P	ENSP00000278780:L250P	L	-	2	0	OVOL2	17953359	1.000000	0.71417	0.995000	0.50966	0.243000	0.25628	7.133000	0.77259	1.966000	0.57179	0.460000	0.39030	CTG	OVOL2	-	NULL	ENSG00000125850		0.577	OVOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVOL2	HGNC	protein_coding	OTTHUMT00000078148.5	364	0.55	2	A	NM_021220		18005359	18005359	-1	no_errors	ENST00000278780	ensembl	human	known	69_37n	missense	218	10.25	25	SNP	0.997	G
PABPC3	5042	genome.wustl.edu	37	13	25671457	25671457	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr13:25671457G>A	ENST00000281589.3	+	1	1158	c.1121G>A	c.(1120-1122)cGc>cAc	p.R374H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	374					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAAGAAGAGCGCCAGGCTTAC	0.493																																						dbGAP											0													154.0	139.0	144.0					13																	25671457		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1121G>A	13.37:g.25671457G>A	ENSP00000281589:p.Arg374His		Q8NHV0|Q9H086	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.R374H	ENST00000281589.3	37	c.1121	CCDS9311.1	13	.	.	.	.	.	.	.	.	.	.	G	14.53	2.564069	0.45694	.	.	ENSG00000151846	ENST00000281589	T	0.06608	3.28	1.41	0.442	0.16582	.	0.134911	0.32287	N	0.006318	T	0.24470	0.0593	M	0.91300	3.195	0.48762	D	0.9997	D	0.89917	1.0	D	0.79784	0.993	T	0.00749	-1.1582	10	0.87932	D	0	.	5.5288	0.16972	0.2147:0.0:0.7853:0.0	.	374	Q9H361	PABP3_HUMAN	H	374	ENSP00000281589:R374H	ENSP00000281589:R374H	R	+	2	0	PABPC3	24569457	1.000000	0.71417	0.900000	0.35374	0.480000	0.33159	6.589000	0.74080	-0.094000	0.12374	0.313000	0.20887	CGC	PABPC3	-	tigrfam_PABP_1234	ENSG00000151846		0.493	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2	550	0.18	1	G	NM_030979		25671457	25671457	+1	no_errors	ENST00000281589	ensembl	human	known	69_37n	missense	640	14.85	112	SNP	1.000	A
SAMD4B	55095	genome.wustl.edu	37	19	39877359	39877359	+	IGR	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:39877359A>G	ENST00000314471.6	+	0	4519				PAF1_ENST00000221265.3_Missense_Mutation_p.M356T|PAF1_ENST00000595564.1_Missense_Mutation_p.M346T|PAF1_ENST00000221266.7_Missense_Mutation_p.M323T	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTTCTCATTCATGTCCCGATG	0.592																																						dbGAP											0													156.0	123.0	134.0					19																	39877359		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0				CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9			19.37:g.39877359A>G			A5Z0M6|Q6P194	Missense_Mutation	SNP	pfam_RNA_pol_II-assoc_Paf1	p.M356T	ENST00000314471.6	37	c.1067	CCDS33020.1	19	.	.	.	.	.	.	.	.	.	.	a	11.62	1.692531	0.30052	.	.	ENSG00000006712	ENST00000221265;ENST00000221266	.	.	.	5.81	4.8	0.61643	.	0.038423	0.85682	D	0.000000	T	0.59074	0.2167	L	0.53249	1.67	0.80722	D	1	P;P	0.46987	0.864;0.888	P;P	0.50659	0.514;0.647	T	0.54357	-0.8306	9	0.23891	T	0.37	-15.7356	10.0806	0.42388	0.9206:0.0:0.0794:0.0	.	323;356	F8W9Q2;Q8N7H5	.;PAF1_HUMAN	T	356;323	.	ENSP00000221265:M356T	M	-	2	0	PAF1	44569199	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	8.287000	0.89918	1.036000	0.39998	-0.268000	0.10319	ATG	PAF1	-	pfam_RNA_pol_II-assoc_Paf1	ENSG00000006712		0.592	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAF1	HGNC	protein_coding	OTTHUMT00000464467.1	334	0.00	0	A	NM_018028		39877359	39877359	-1	no_errors	ENST00000221265	ensembl	human	known	69_37n	missense	418	19.77	103	SNP	1.000	G
PARP11	57097	genome.wustl.edu	37	12	3931108	3931108	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:3931108G>A	ENST00000228820.4	-	6	623	c.479C>T	c.(478-480)aCg>aTg	p.T160M	PARP11_ENST00000476985.1_5'UTR|PARP11_ENST00000427057.2_Missense_Mutation_p.T79M|PARP11_ENST00000447133.3_Missense_Mutation_p.T79M|PARP11_ENST00000397096.2_Missense_Mutation_p.T153M	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	153	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.T153M(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			GCGATCCATCGTCTTCCCAAA	0.348																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											82.0	88.0	86.0					12																	3931108		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"""Poly (ADP-ribose) polymerases"""	1186	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 6"""	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.479C>T	12.37:g.3931108G>A	ENSP00000228820:p.Thr160Met		B4DRQ0|Q68DS1|Q8N5Y9	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.T160M	ENST00000228820.4	37	c.479	CCDS8523.2	12	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323544	0.81580	.	.	ENSG00000111224	ENST00000397096;ENST00000427057;ENST00000228820;ENST00000447133	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	5.11	5.11	0.69529	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.051511	0.85682	D	0.000000	T	0.53658	0.1810	M	0.88512	2.96	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.973;0.984	T	0.62153	-0.6914	10	0.87932	D	0	.	16.0762	0.80969	0.0:0.0:1.0:0.0	.	79;160;153	Q9NR21-2;Q9NR21-4;Q9NR21	.;.;PAR11_HUMAN	M	153;79;160;79	ENSP00000380284:T153M;ENSP00000397058:T79M;ENSP00000228820:T160M;ENSP00000405385:T79M	ENSP00000228820:T160M	T	-	2	0	PARP11	3801369	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.893000	0.92498	2.633000	0.89246	0.637000	0.83480	ACG	PARP11	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000111224		0.348	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP11	HGNC	protein_coding	OTTHUMT00000344213.1	57	0.00	0	G			3931108	3931108	-1	no_errors	ENST00000228820	ensembl	human	known	69_37n	missense	72	13.25	11	SNP	1.000	A
PARP4	143	genome.wustl.edu	37	13	25016762	25016762	+	Missense_Mutation	SNP	G	G	A	rs113301501	byFrequency	TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr13:25016762G>A	ENST00000381989.3	-	29	3614	c.3509C>T	c.(3508-3510)aCa>aTa	p.T1170I		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1170					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TGTAAATTGTGTTATGAGAGA	0.289																																						dbGAP											0													81.0	83.0	82.0					13																	25016762		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3509C>T	13.37:g.25016762G>A	ENSP00000371419:p.Thr1170Ile		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.T1170I	ENST00000381989.3	37	c.3509	CCDS9307.1	13	.	.	.	.	.	.	.	.	.	.	g	16.99	3.273741	0.59649	.	.	ENSG00000102699	ENST00000381989	T	0.64803	-0.12	4.65	3.81	0.43845	.	0.193075	0.42053	D	0.000769	T	0.59197	0.2176	M	0.76328	2.33	0.33718	D	0.616609	B	0.32203	0.36	B	0.27796	0.083	T	0.71896	-0.4454	10	0.87932	D	0	-18.9801	10.8642	0.46844	0.0924:0.0:0.9076:0.0	.	1170	Q9UKK3	PARP4_HUMAN	I	1170	ENSP00000371419:T1170I	ENSP00000371419:T1170I	T	-	2	0	PARP4	23914762	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.530000	0.67141	1.207000	0.43291	-0.131000	0.14894	ACA	PARP4	-	NULL	ENSG00000102699		0.289	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1	73	0.00	0	G	NM_006437		25016762	25016762	-1	no_errors	ENST00000381989	ensembl	human	known	69_37n	missense	66	15.38	12	SNP	1.000	A
PCDH15	65217	genome.wustl.edu	37	10	55663026	55663026	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:55663026A>G	ENST00000320301.6	-	26	3872	c.3478T>C	c.(3478-3480)Ttt>Ctt	p.F1160L	PCDH15_ENST00000395433.1_Missense_Mutation_p.F1138L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.F1167L|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.F1165L|PCDH15_ENST00000409834.1_Missense_Mutation_p.F771L|PCDH15_ENST00000373965.2_Missense_Mutation_p.F1167L|PCDH15_ENST00000361849.3_Missense_Mutation_p.F1160L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.F1160L|PCDH15_ENST00000395438.1_Missense_Mutation_p.F1160L|PCDH15_ENST00000437009.1_Missense_Mutation_p.F1089L|PCDH15_ENST00000395432.2_Missense_Mutation_p.F1123L|PCDH15_ENST00000463095.1_5'UTR	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1160	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACAGAAGTAAACATTCTTGCA	0.358										HNSCC(58;0.16)																												dbGAP											0													88.0	84.0	85.0					10																	55663026		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3478T>C	10.37:g.55663026A>G	ENSP00000322604:p.Phe1160Leu		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F1160L	ENST00000320301.6	37	c.3478	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	a	23.9	4.465831	0.84425	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18;0.18;0.18;0.18;0.18;0.18	5.01	5.01	0.66863	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.74596	0.3737	M	0.76328	2.33	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.99;1.0;1.0;0.998;0.995;1.0;0.99;0.998;0.999;0.999;0.996;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.996;0.998;0.999;0.988;0.976;0.998;0.996;0.987;0.999;0.999;0.981;0.992;0.999	T	0.76900	-0.2788	9	0.52906	T	0.07	.	13.693	0.62559	1.0:0.0:0.0:0.0	.	1138;1160;1160;1165;1089;1123;1160;1160;1167;1167;1160;1165;1160	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	L	1167;1165;1160;1160;771;1167;1123;1160;1138;1160;1160;1165;1089	ENSP00000363076:F1167L;ENSP00000410304:F1165L;ENSP00000378826:F1160L;ENSP00000386693:F771L;ENSP00000378832:F1167L;ENSP00000378820:F1123L;ENSP00000354950:F1160L;ENSP00000378821:F1138L;ENSP00000322604:F1160L;ENSP00000378818:F1160L;ENSP00000412628:F1089L	ENSP00000322604:F1160L	F	-	1	0	PCDH15	55333032	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.957000	0.87870	1.878000	0.54408	0.352000	0.21897	TTT	PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000150275		0.358	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	105	0.00	0	A	NM_033056		55663026	55663026	-1	no_errors	ENST00000320301	ensembl	human	known	69_37n	missense	26	13.33	4	SNP	1.000	G
PCDH19	57526	genome.wustl.edu	37	X	99551784	99551784	+	Missense_Mutation	SNP	G	G	T	rs3764758	byFrequency	TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:99551784G>T	ENST00000373034.4	-	6	4613	c.2938C>A	c.(2938-2940)Cgt>Agt	p.R980S	PCDH19_ENST00000255531.7_Missense_Mutation_p.R933S|PCDH19_ENST00000420881.2_Missense_Mutation_p.R932S|PCDH19_ENST00000464981.1_5'Flank	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	980			R -> C (in dbSNP:rs3764758). {ECO:0000269|PubMed:22267240}.		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GACTTGGAACGGATGGGCATG	0.542																																						dbGAP											0													69.0	66.0	67.0					X																	99551784		2074	4204	6278	-	-	-	SO:0001583	missense	0			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2938C>A	X.37:g.99551784G>T	ENSP00000362125:p.Arg980Ser		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R980S	ENST00000373034.4	37	c.2938	CCDS55462.1	X	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557348	0.27827	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.51817	0.72;0.8;0.69	5.84	4.08	0.47627	.	0.118844	0.52532	D	0.000064	T	0.53334	0.1790	L	0.54323	1.7	0.80722	D	1	B;D;D	0.63880	0.249;0.993;0.989	B;P;P	0.61533	0.081;0.89;0.779	T	0.52320	-0.8591	10	0.07990	T	0.79	.	10.1974	0.43062	0.0727:0.0:0.791:0.1363	.	980;933;932	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	S	932;980;933	ENSP00000400327:R932S;ENSP00000362125:R980S;ENSP00000255531:R933S	ENSP00000255531:R933S	R	-	1	0	PCDH19	99438440	1.000000	0.71417	0.974000	0.42286	0.582000	0.36321	4.409000	0.59768	0.614000	0.30107	0.600000	0.82982	CGT	PCDH19	-	NULL	ENSG00000165194		0.542	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	100	0.00	0	G	NM_020766		99551784	99551784	-1	no_errors	ENST00000373034	ensembl	human	known	69_37n	missense	14	17.65	3	SNP	0.969	T
PCDH19	57526	genome.wustl.edu	37	X	99597039	99597039	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:99597039G>T	ENST00000373034.4	-	5	4385	c.2710C>A	c.(2710-2712)Ctg>Atg	p.L904M	PCDH19_ENST00000255531.7_Missense_Mutation_p.L857M|PCDH19_ENST00000420881.2_Missense_Mutation_p.L856M	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	904					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTATCCTTCAGGCTGTTGCCC	0.468																																						dbGAP											0													190.0	175.0	180.0					X																	99597039		2105	4186	6291	-	-	-	SO:0001583	missense	0			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2710C>A	X.37:g.99597039G>T	ENSP00000362125:p.Leu904Met		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L904M	ENST00000373034.4	37	c.2710	CCDS55462.1	X	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650197	0.67472	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.60672	0.3;0.17;0.4	5.99	5.13	0.70059	.	0.080223	0.53938	D	0.000057	T	0.60051	0.2239	N	0.14661	0.345	0.51012	D	0.999904	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.999	T	0.61118	-0.7127	10	0.33141	T	0.24	.	14.4413	0.67321	0.0719:0.0:0.9281:0.0	.	904;857;856	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	M	856;904;857	ENSP00000400327:L856M;ENSP00000362125:L904M;ENSP00000255531:L857M	ENSP00000255531:L857M	L	-	1	2	PCDH19	99483695	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.544000	0.60691	1.295000	0.44724	0.600000	0.82982	CTG	PCDH19	-	NULL	ENSG00000165194		0.468	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	735	0.00	0	G	NM_020766		99597039	99597039	-1	no_errors	ENST00000373034	ensembl	human	known	69_37n	missense	166	21.70	46	SNP	1.000	T
PCDHA10	56139	genome.wustl.edu	37	5	140236526	140236526	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:140236526C>T	ENST00000307360.5	+	1	893	c.893C>T	c.(892-894)aCg>aTg	p.T298M	PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.T298M|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	298	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T298M(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGAAAGGACGGGAGAAATA	0.373																																						dbGAP											2	Substitution - Missense(2)	large_intestine(2)											80.0	78.0	78.0					5																	140236526		2196	4269	6465	-	-	-	SO:0001583	missense	0			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.893C>T	5.37:g.140236526C>T	ENSP00000304234:p.Thr298Met		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T298M	ENST00000307360.5	37	c.893	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401146	0.25291	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.58060	0.36;0.36	4.29	3.4	0.38934	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.76478	0.3993	M	0.92367	3.3	0.29087	N	0.882325	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.72338	0.977;0.961;0.944	T	0.72200	-0.4362	9	0.87932	D	0	.	10.8576	0.46808	0.1459:0.7133:0.1408:0.0	.	298;298;298	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	M	298	ENSP00000421030:T298M;ENSP00000304234:T298M	ENSP00000304234:T298M	T	+	2	0	PCDHA10	140216710	0.006000	0.16342	0.010000	0.14722	0.251000	0.25915	0.339000	0.19875	1.114000	0.41781	0.561000	0.74099	ACG	PCDHA10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000250120		0.373	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	49	0.00	0	C	NM_018901		140236526	140236526	+1	no_errors	ENST00000307360	ensembl	human	known	69_37n	missense	82	14.58	14	SNP	0.771	T
PCDHA8	56140	genome.wustl.edu	37	5	140222343	140222343	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:140222343G>A	ENST00000531613.1	+	1	1437	c.1437G>A	c.(1435-1437)gcG>gcA	p.A479A	PCDHA8_ENST00000378123.3_Silent_p.A479A|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	479	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)			CGGTGTCTGCGCGAGACGCGG	0.657																																						dbGAP											0													44.0	49.0	47.0					5																	140222343		2195	4260	6455	-	-	-	SO:0001819	synonymous_variant	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.1437G>A	5.37:g.140222343G>A			B9EGT7|O75281	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A479	ENST00000531613.1	37	c.1437	CCDS54919.1	5																																																																																			PCDHA8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204962		0.657	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2	116	0.00	0	G	NM_018911		140222343	140222343	+1	no_errors	ENST00000531613	ensembl	human	known	69_37n	silent	194	17.02	40	SNP	0.004	A
PCDHA10	56139	genome.wustl.edu	37	5	140236634	140236634	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:140236634C>T	ENST00000307360.5	+	1	1001	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.T334M|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	334	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCACTGCACGGTCCTAGTG	0.418																																						dbGAP											0													147.0	137.0	140.0					5																	140236634		2196	4271	6467	-	-	-	SO:0001583	missense	0			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1001C>T	5.37:g.140236634C>T	ENSP00000304234:p.Thr334Met		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T334M	ENST00000307360.5	37	c.1001	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	C	9.572	1.121352	0.20877	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.55588	4.67;0.51	4.15	2.17	0.27698	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.53384	0.1793	M	0.83852	2.665	0.20873	N	0.999837	D;D;B	0.56287	0.975;0.964;0.407	B;B;B	0.42851	0.328;0.4;0.22	T	0.51301	-0.8723	9	0.54805	T	0.06	.	6.7923	0.23707	0.4034:0.4648:0.1318:0.0	.	334;334;334	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	M	334	ENSP00000421030:T334M;ENSP00000304234:T334M	ENSP00000304234:T334M	T	+	2	0	PCDHA10	140216818	0.000000	0.05858	0.705000	0.30386	0.781000	0.44180	-0.835000	0.04386	1.075000	0.40932	0.561000	0.74099	ACG	PCDHA10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000250120		0.418	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	196	0.00	0	C	NM_018901		140236634	140236634	+1	no_errors	ENST00000307360	ensembl	human	known	69_37n	missense	236	12.92	35	SNP	0.711	T
PCDHB10	56126	genome.wustl.edu	37	5	140572533	140572534	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:140572533_140572534delAG	ENST00000239446.4	+	1	592_593	c.408_409delAG	c.(406-411)aaagaafs	p.E137fs		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	137					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCAGGACAAAGAAACAGTCTT	0.401																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.408_409delAG	5.37:g.140572533_140572534delAG	ENSP00000239446:p.Glu137fs		Q96T99	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E137fs	ENST00000239446.4	37	c.408_409	CCDS4252.1	5																																																																																			PCDHB10	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000120324		0.401	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB10	HGNC	protein_coding	OTTHUMT00000251821.1	55	0.00	0	AG	NM_018930		140572533	140572534	+1	no_errors	ENST00000239446	ensembl	human	known	69_37n	frame_shift_del	74	26.00	26	DEL	0.004:0.046	-
PCDHB8	56128	genome.wustl.edu	37	5	140559583	140559583	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:140559583C>T	ENST00000239444.2	+	1	2213	c.1968C>T	c.(1966-1968)acC>acT	p.T656T	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	656	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)	p.T656T(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCGGCCACCGCCACGCTGC	0.706																																						dbGAP											1	Substitution - coding silent(1)	kidney(1)											23.0	26.0	25.0					5																	140559583		2139	4197	6336	-	-	-	SO:0001819	synonymous_variant	0			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1968C>T	5.37:g.140559583C>T			B9EGV1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T656	ENST00000239444.2	37	c.1968	CCDS4250.1	5																																																																																			PCDHB8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120322		0.706	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2	46	0.00	0	C	NM_019120		140559583	140559583	+1	no_errors	ENST00000239444	ensembl	human	known	69_37n	silent	63	14.86	11	SNP	0.017	T
PCDHGA5	56110	genome.wustl.edu	37	5	140745752	140745752	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:140745752G>A	ENST00000518069.1	+	1	1855	c.1855G>A	c.(1855-1857)Gtt>Att	p.V619I	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	619	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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCTTTGCGGTTGGGCTGCA	0.647																																						dbGAP											0													58.0	66.0	63.0					5																	140745752		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1855G>A	5.37:g.140745752G>A	ENSP00000429834:p.Val619Ile		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V619I	ENST00000518069.1	37	c.1855	CCDS54925.1	5	.	.	.	.	.	.	.	.	.	.	.	0.797	-0.756622	0.03019	.	.	ENSG00000253485	ENST00000518069	T	0.39056	1.1	4.58	0.543	0.17179	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.19046	0.0457	N	0.02865	-0.47	0.09310	N	1	B;B	0.28291	0.172;0.206	B;B	0.39840	0.207;0.311	T	0.32929	-0.9888	9	0.23302	T	0.38	.	0.6599	0.00841	0.3179:0.1213:0.3139:0.2469	.	619;619	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	I	619	ENSP00000429834:V619I	ENSP00000429834:V619I	V	+	1	0	PCDHGA5	140725936	0.159000	0.22864	0.110000	0.21437	0.018000	0.09664	0.453000	0.21811	0.113000	0.18004	0.563000	0.77884	GTT	PCDHGA5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253485		0.647	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	103	0.00	0	G	NM_018918		140745752	140745752	+1	no_errors	ENST00000518069	ensembl	human	known	69_37n	missense	92	22.03	26	SNP	0.018	A
PCDHGA6	56109	genome.wustl.edu	37	5	140755876	140755876	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:140755876C>T	ENST00000517434.1	+	1	2226	c.2226C>T	c.(2224-2226)ggC>ggT	p.G742G	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	742					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTTGTGGGCGTGGAAGGGG	0.607																																						dbGAP											0													74.0	79.0	77.0					5																	140755876		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.2226C>T	5.37:g.140755876C>T			A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G742	ENST00000517434.1	37	c.2226	CCDS54926.1	5																																																																																			PCDHGA6	-	NULL	ENSG00000253731		0.607	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA6	HGNC	protein_coding	OTTHUMT00000374743.1	290	0.00	0	C	NM_018919		140755876	140755876	+1	no_errors	ENST00000517434	ensembl	human	known	69_37n	silent	404	13.68	64	SNP	0.859	T
PCDHGC4	56098	genome.wustl.edu	37	5	140865399	140865399	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:140865399C>T	ENST00000306593.1	+	1	659	c.659C>T	c.(658-660)cCg>cTg	p.P220L	PCDHGB3_ENST00000576222.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	220	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGGAACCCGCCGAGATCT	0.602																																						dbGAP											0													30.0	34.0	32.0					5																	140865399		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.659C>T	5.37:g.140865399C>T	ENSP00000306918:p.Pro220Leu		Q495T2|Q9Y5C3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P220L	ENST00000306593.1	37	c.659	CCDS4262.1	5	.	.	.	.	.	.	.	.	.	.	C	18.22	3.574955	0.65878	.	.	ENSG00000242419	ENST00000306593	T	0.57436	0.4	5.0	5.0	0.66597	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.78685	0.4322	H	0.94886	3.595	0.50813	D	0.999897	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.988	D	0.83857	0.0266	9	0.72032	D	0.01	.	12.8421	0.57809	0.0:0.9195:0.0:0.0805	.	220;220	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	L	220	ENSP00000306918:P220L	ENSP00000306918:P220L	P	+	2	0	PCDHGC4	140845583	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	5.628000	0.67791	2.596000	0.87737	0.561000	0.74099	CCG	PCDHGC4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000242419		0.602	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC4	HGNC	protein_coding	OTTHUMT00000251820.1	53	0.00	0	C	NM_018928		140865399	140865399	+1	no_errors	ENST00000306593	ensembl	human	known	69_37n	missense	62	21.52	17	SNP	0.998	T
PCNT	5116	genome.wustl.edu	37	21	47817997	47817997	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr21:47817997C>T	ENST00000359568.5	+	23	4623	c.4516C>T	c.(4516-4518)Ctc>Ttc	p.L1506F	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1506					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGAGGGGCAGCTCCGCCAGGC	0.662																																						dbGAP											0													22.0	22.0	22.0					21																	47817997		2186	4279	6465	-	-	-	SO:0001583	missense	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.4516C>T	21.37:g.47817997C>T	ENSP00000352572:p.Leu1506Phe		O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.L1506F	ENST00000359568.5	37	c.4516	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285987	0.80803	.	.	ENSG00000160299	ENST00000359568	T	0.73363	-0.74	4.95	4.95	0.65309	.	0.000000	0.30277	N	0.009990	D	0.86644	0.5982	M	0.83483	2.645	0.39282	D	0.964571	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.88217	0.2894	10	0.49607	T	0.09	.	15.7248	0.77747	0.0:1.0:0.0:0.0	.	1388;1506	O95613-2;O95613	.;PCNT_HUMAN	F	1506	ENSP00000352572:L1506F	ENSP00000352572:L1506F	L	+	1	0	PCNT	46642425	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	3.824000	0.55723	2.560000	0.86352	0.555000	0.69702	CTC	PCNT	-	NULL	ENSG00000160299		0.662	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	71	0.00	0	C	NM_006031		47817997	47817997	+1	no_errors	ENST00000359568	ensembl	human	known	69_37n	missense	134	15.19	24	SNP	1.000	T
PCNXL3	399909	genome.wustl.edu	37	11	65394380	65394380	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:65394380G>A	ENST00000355703.3	+	21	3924	c.3385G>A	c.(3385-3387)Gcc>Acc	p.A1129T		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1129						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CACAGGTGCCGCCCAGGTGAT	0.622																																						dbGAP											0													49.0	57.0	54.0					11																	65394380		2145	4233	6378	-	-	-	SO:0001583	missense	0			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3385G>A	11.37:g.65394380G>A	ENSP00000347931:p.Ala1129Thr		Q6MZN8	Missense_Mutation	SNP	pfam_Pecanex	p.A1129T	ENST00000355703.3	37	c.3385	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036189	0.93630	.	.	ENSG00000197136	ENST00000355703	T	0.18657	2.2	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.52964	0.1767	M	0.87456	2.885	0.54753	D	0.999987	D;D	0.76494	0.999;0.999	D;D	0.75020	0.963;0.985	T	0.58070	-0.7701	10	0.59425	D	0.04	.	17.2567	0.87059	0.0:0.0:1.0:0.0	.	16;1129	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	T	1129	ENSP00000347931:A1129T	ENSP00000347931:A1129T	A	+	1	0	PCNXL3	65150956	1.000000	0.71417	0.978000	0.43139	0.516000	0.34256	9.828000	0.99408	2.666000	0.90696	0.561000	0.74099	GCC	PCNXL3	-	NULL	ENSG00000197136		0.622	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	193	0.00	0	G	NM_032223		65394380	65394380	+1	no_errors	ENST00000355703	ensembl	human	known	69_37n	missense	201	23.28	61	SNP	1.000	A
PCSK7	9159	genome.wustl.edu	37	11	117079626	117079626	+	Frame_Shift_Del	DEL	G	G	-	rs202038275		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:117079626delG	ENST00000320934.3	-	13	2308	c.1678delC	c.(1678-1680)cgcfs	p.R560fs	PCSK7_ENST00000540028.1_Frame_Shift_Del_p.R201fs|PCSK7_ENST00000529458.1_5'Flank	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	560					peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TCCATGCTGCGGGGGGCGCCG	0.597			T	IGH@	MLCLS																																	dbGAP		Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													40.0	43.0	42.0					11																	117079626		2201	4296	6497	-	-	-	SO:0001589	frameshift_variant	0			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1678delC	11.37:g.117079626delG	ENSP00000325917:p.Arg560fs		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Frame_Shift_Del	DEL	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.R560fs	ENST00000320934.3	37	c.1678	CCDS8382.1	11																																																																																			PCSK7	-	pfam_PrprotnconvertsP,superfamily_Galactose-bd-like	ENSG00000160613		0.597	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK7	HGNC	protein_coding	OTTHUMT00000385529.2	128	0.00	0	G	NM_004716		117079626	117079626	-1	no_errors	ENST00000320934	ensembl	human	known	69_37n	frame_shift_del	111	15.91	21	DEL	1.000	-
PCYOX1	51449	genome.wustl.edu	37	2	70504174	70504174	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:70504174A>T	ENST00000433351.2	+	6	1196	c.1168A>T	c.(1168-1170)Aga>Tga	p.R390*	PCYOX1_ENST00000545138.1_Nonsense_Mutation_p.R312*|PCYOX1_ENST00000264441.5_Nonstop_Mutation_p.*294C|PCYOX1_ENST00000505044.2_Nonsense_Mutation_p.R313*	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	390					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						GCCCTCTGTGAGAGAAAAGGA	0.358																																						dbGAP											0													62.0	66.0	65.0					2																	70504174		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.1168A>T	2.37:g.70504174A>T	ENSP00000387654:p.Arg390*		B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Nonsense_Mutation	SNP	pfam_Prenylcys_lyase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase	p.R390*	ENST00000433351.2	37	c.1168	CCDS1902.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.66|15.66	2.897825|2.897825	0.52227|0.52227	.|.	.|.	ENSG00000116005|ENSG00000116005	ENST00000505044;ENST00000433351;ENST00000545138|ENST00000264441	.|.	.|.	.|.	5.44|5.44	2.96|2.96	0.34315|0.34315	.|.	0.803958|.	0.11938|.	N|.	0.514971|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-1.7766|-1.7766	7.9371|7.9371	0.29935|0.29935	0.7447:0.0:0.2553:0.0|0.7447:0.0:0.2553:0.0	.|.	.|.	.|.	.|.	X|C	313;390;312|294	.|.	.|.	R|X	+|+	1|3	2|0	PCYOX1|PCYOX1	70357678|70357678	0.155000|0.155000	0.22806|0.22806	0.184000|0.184000	0.23157|0.23157	0.008000|0.008000	0.06430|0.06430	0.884000|0.884000	0.28214|0.28214	0.459000|0.459000	0.27016|0.27016	0.533000|0.533000	0.62120|0.62120	AGA|TGA	PCYOX1	-	pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase	ENSG00000116005		0.358	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYOX1	HGNC	protein_coding	OTTHUMT00000251872.3	48	0.00	0	A	NM_016297		70504174	70504174	+1	no_errors	ENST00000433351	ensembl	human	known	69_37n	nonsense	38	11.63	5	SNP	0.412	T
PDE6B	5158	genome.wustl.edu	37	4	655933	655933	+	Missense_Mutation	SNP	G	G	A	rs190470432	byFrequency	TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:655933G>A	ENST00000496514.1	+	13	1646	c.1625G>A	c.(1624-1626)cGg>cAg	p.R542Q	PDE6B_ENST00000429163.2_Missense_Mutation_p.R263Q|RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000255622.6_Missense_Mutation_p.R542Q			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	542					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GTCCTGGTGCGGTTCCTGTTC	0.622													.|||	2	0.000399361	0.0	0.0	5008	,	,		17502	0.0		0.002	False		,,,				2504	0.0				GBM(71;463 1194 9848 25922 46834)	dbGAP											0													45.0	36.0	39.0					4																	655933		2193	4286	6479	-	-	-	SO:0001583	missense	0			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1625G>A	4.37:g.655933G>A	ENSP00000420295:p.Arg542Gln		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.R542Q	ENST00000496514.1	37	c.1625	CCDS33932.1	4	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	22.5	4.304353	0.81136	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	T;T;T	0.78816	-1.21;-1.21;-1.21	4.41	4.41	0.53225	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	T	0.79387	0.4437	M	0.70275	2.135	0.53688	D	0.999977	B;P	0.40107	0.396;0.703	B;B	0.42771	0.223;0.397	T	0.82768	-0.0294	10	0.66056	D	0.02	.	14.5094	0.67774	0.0:0.0:1.0:0.0	.	542;542	P35913;P35913-2	PDE6B_HUMAN;.	Q	542;542;263	ENSP00000255622:R542Q;ENSP00000420295:R542Q;ENSP00000406334:R263Q	ENSP00000255622:R542Q	R	+	2	0	PDE6B	645933	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.395000	0.79876	2.001000	0.58596	0.558000	0.71614	CGG	PDE6B	-	NULL	ENSG00000133256		0.622	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE6B	HGNC	protein_coding	OTTHUMT00000358109.1	71	0.00	0	G	NM_000283		655933	655933	+1	no_errors	ENST00000496514	ensembl	human	known	69_37n	missense	112	15.04	20	SNP	0.999	A
PDIA2	64714	genome.wustl.edu	37	16	335568	335568	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:335568C>T	ENST00000219406.6	+	7	1002	c.984C>T	c.(982-984)ctC>ctT	p.L328L	PDIA2_ENST00000462950.1_3'UTR|PDIA2_ENST00000404312.1_Silent_p.L325L	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	328					cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				ACTTTGGACTCAAGGCTGAGG	0.617																																						dbGAP											0													69.0	85.0	80.0					16																	335568		2174	4253	6427	-	-	-	SO:0001819	synonymous_variant	0			U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"""Protein disulfide isomerases"""	14180	protein-coding gene	gene with protein product		608012	"""protein disulfide isomerase, pancreatic"", ""protein disulfide isomerase-associated 2"""	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.984C>T	16.37:g.335568C>T			A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Silent	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase	p.L328	ENST00000219406.6	37	c.984	CCDS42089.1	16																																																																																			PDIA2	-	superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase	ENSG00000185615		0.617	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDIA2	HGNC	protein_coding	OTTHUMT00000139315.3	157	0.00	0	C	NM_006849		335568	335568	+1	no_errors	ENST00000219406	ensembl	human	known	69_37n	silent	162	16.84	33	SNP	0.345	T
PDIA5	10954	genome.wustl.edu	37	3	122842972	122842972	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:122842972C>T	ENST00000316218.7	+	9	764	c.669C>T	c.(667-669)agC>agT	p.S223S		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	223	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		AGGAGTACAGCGTGCGCGGCT	0.557																																						dbGAP											0													77.0	70.0	72.0					3																	122842972		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.669C>T	3.37:g.122842972C>T			D3DN95|Q9BV43	Silent	SNP	pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin	p.S223	ENST00000316218.7	37	c.669	CCDS3020.1	3																																																																																			PDIA5	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000065485		0.557	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA5	HGNC	protein_coding	OTTHUMT00000356192.1	115	0.86	1	C	NM_006810		122842972	122842972	+1	no_errors	ENST00000316218	ensembl	human	known	69_37n	silent	67	37.96	41	SNP	0.511	T
PDZD7	79955	genome.wustl.edu	37	10	102781608	102781608	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:102781608T>C	ENST00000370215.3	-	6	1039	c.814A>G	c.(814-816)Agc>Ggc	p.S272G		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	272	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		ACGGCCTGGCTGTGGCTGATG	0.617																																						dbGAP											0													214.0	171.0	185.0					10																	102781608		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.814A>G	10.37:g.102781608T>C	ENSP00000359234:p.Ser272Gly		D5FJ77|Q8N321	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S272G	ENST00000370215.3	37	c.814	CCDS31269.1	10	.	.	.	.	.	.	.	.	.	.	T	24.9	4.585516	0.86748	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.27557	1.66	5.36	5.36	0.76844	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.41766	0.1173	N	0.21194	0.64	0.58432	D	0.999999	D;D	0.76494	0.999;0.996	D;P	0.72075	0.976;0.848	T	0.38001	-0.9681	10	0.54805	T	0.06	.	15.3426	0.74309	0.0:0.0:0.0:1.0	.	272;272	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	G	272	ENSP00000359234:S272G	ENSP00000359234:S272G	S	-	1	0	PDZD7	102771598	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.741000	0.68638	2.034000	0.60081	0.379000	0.24179	AGC	PDZD7	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000186862		0.617	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD7	HGNC	protein_coding	OTTHUMT00000049883.1	430	0.00	0	T	NM_024895		102781608	102781608	-1	no_errors	ENST00000370215	ensembl	human	known	69_37n	missense	521	11.49	68	SNP	1.000	C
PER2	8864	genome.wustl.edu	37	2	239171644	239171644	+	Missense_Mutation	SNP	C	C	T	rs199558711		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:239171644C>T	ENST00000254657.3	-	10	1381	c.1102G>A	c.(1102-1104)Gtg>Atg	p.V368M	PER2_ENST00000440245.1_Missense_Mutation_p.V368M|PER2_ENST00000254658.3_Intron|PER2_ENST00000355768.2_Intron	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	368	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGGAGCTGCACGAGCACTGGG	0.547											OREG0015337	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													116.0	94.0	101.0					2																	239171644		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.1102G>A	2.37:g.239171644C>T	ENSP00000254657:p.Val368Met	2409	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.V368M	ENST00000254657.3	37	c.1102	CCDS2528.1	2	.	.	.	.	.	.	.	.	.	.	C	9.152	1.016525	0.19355	.	.	ENSG00000132326	ENST00000254657;ENST00000440245	T;T	0.17213	2.29;2.29	4.56	-9.11	0.00711	PAS fold-3 (1);PAS (2);	0.509796	0.19478	N	0.113293	T	0.09379	0.0231	N	0.03194	-0.395	0.35320	D	0.784701	P;D;P	0.64830	0.759;0.994;0.485	B;P;B	0.55577	0.161;0.779;0.233	T	0.53373	-0.8448	10	0.40728	T	0.16	-3.453	10.92	0.47158	0.0748:0.1094:0.6838:0.132	.	368;368;368	F5GYD5;B4DH14;O15055	.;.;PER2_HUMAN	M	368	ENSP00000254657:V368M;ENSP00000397516:V368M	ENSP00000254657:V368M	V	-	1	0	PER2	238836383	0.000000	0.05858	0.025000	0.17156	0.768000	0.43524	-0.447000	0.06828	-1.902000	0.01094	-0.211000	0.12701	GTG	PER2	-	pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	ENSG00000132326		0.547	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER2	HGNC	protein_coding	OTTHUMT00000257167.1	251	0.00	0	C	NM_022817		239171644	239171644	-1	no_errors	ENST00000254657	ensembl	human	known	69_37n	missense	221	13.67	35	SNP	0.006	T
PGAP2	27315	genome.wustl.edu	37	11	3846609	3846609	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:3846609C>T	ENST00000463452.2	+	6	769	c.686C>T	c.(685-687)gCg>gTg	p.A229V	PGAP2_ENST00000396991.2_Missense_Mutation_p.A290V|PGAP2_ENST00000493547.2_3'UTR|PGAP2_ENST00000396993.4_3'UTR|PGAP2_ENST00000278243.4_Missense_Mutation_p.A290V|PGAP2_ENST00000496834.2_Missense_Mutation_p.A73V|PGAP2_ENST00000479072.1_Missense_Mutation_p.A69V|PGAP2_ENST00000396986.2_Missense_Mutation_p.A286V|PGAP2_ENST00000300730.6_Missense_Mutation_p.A282V|PGAP2_ENST00000465307.2_3'UTR|PGAP2_ENST00000532017.1_3'UTR	NM_001256240.1	NP_001243169.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	229					GPI anchor biosynthetic process (GO:0006506)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|signal transduction in response to DNA damage (GO:0042770)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						ACCAACATGGCGTTCCACATG	0.522											OREG0020703	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													140.0	112.0	122.0					11																	3846609		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF159615	CCDS7747.1, CCDS44523.1, CCDS58112.1, CCDS58113.1, CCDS73244.1, CCDS73245.1	11p15.4	2014-01-31			ENSG00000148985	ENSG00000148985			17893	protein-coding gene	gene with protein product	"""FGF receptor activating protein 1"", ""cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)"""	615187	"""mental retardation, non-syndromic, autosomal recessive, 21"""	MRT21		10585768, 16407401, 23561846	Standard	NM_014489		Approved	FRAG1, CWH43-N	uc010qxw.3	Q9UHJ9	OTTHUMG00000012238	ENST00000463452.2:c.686C>T	11.37:g.3846609C>T	ENSP00000435223:p.Ala229Val	614	E9PJG5|H7BXL9|Q6UC77|Q96G66|Q9UF01|Q9Y4N1	Missense_Mutation	SNP	pfam_Frag1/DRAM/Sfk1	p.A290V	ENST00000463452.2	37	c.869	CCDS58112.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.508038|4.508038	0.85282|0.85282	.|.	.|.	ENSG00000148985|ENSG00000148985	ENST00000396986;ENST00000300730;ENST00000396991;ENST00000278243;ENST00000463452;ENST00000479072;ENST00000496834;ENST00000469307|ENST00000464906	T;T;T;T;T;T;T;T|.	0.40476|.	1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03|.	5.41|5.41	4.46|4.46	0.54185|0.54185	.|.	0.179679|.	0.48286|.	D|.	0.000181|.	T|T	0.73900|0.73900	0.3646|0.3646	M|M	0.78637|0.78637	2.42|2.42	0.54753|0.54753	D|D	0.999988|0.999988	D;D;P;D;D|.	0.89917|.	1.0;0.999;0.936;1.0;0.999|.	D;D;P;D;D|.	0.72625|.	0.978;0.946;0.491;0.97;0.946|.	T|T	0.74137|0.74137	-0.3762|-0.3762	10|5	0.40728|.	T|.	0.16|.	-18.4807|-18.4807	12.8308|12.8308	0.57744|0.57744	0.0:0.7196:0.2804:0.0|0.0:0.7196:0.2804:0.0	.|.	286;225;73;290;229|.	A8MYS5;Q9UHJ9-3;E9PPF7;Q9UHJ9;Q9UHJ9-2|.	.;.;.;PGAP2_HUMAN;.|.	V|C	286;282;290;290;229;69;73;225|320	ENSP00000380183:A286V;ENSP00000300730:A282V;ENSP00000380188:A290V;ENSP00000278243:A290V;ENSP00000435223:A229V;ENSP00000435338:A69V;ENSP00000432721:A73V;ENSP00000434507:A225V|.	ENSP00000278243:A290V|.	A|R	+|+	2|1	0|0	PGAP2|PGAP2	3803185|3803185	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.998000|0.998000	0.95712|0.95712	5.107000|5.107000	0.64603|0.64603	2.815000|2.815000	0.96918|0.96918	0.561000|0.561000	0.74099|0.74099	GCG|CGT	PGAP2	-	pfam_Frag1/DRAM/Sfk1	ENSG00000148985		0.522	PGAP2-049	KNOWN	basic|CCDS	protein_coding	PGAP2	HGNC	protein_coding	OTTHUMT00000383260.1	349	0.00	0	C			3846609	3846609	+1	no_errors	ENST00000278243	ensembl	human	known	69_37n	missense	271	23.81	85	SNP	1.000	T
PGF	5228	genome.wustl.edu	37	14	75416089	75416089	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:75416089G>A	ENST00000405431.2	-	3	285	c.286C>T	c.(286-288)Ccg>Tcg	p.P96S	PGF_ENST00000555567.1_Missense_Mutation_p.P96S|PGF_ENST00000553716.1_Missense_Mutation_p.P96S|PGF_ENST00000238607.6_Missense_Mutation_p.P95S			P49763	PLGF_HUMAN	placental growth factor	96					branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of morphogenesis of a branching structure (GO:0060688)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)	Aflibercept(DB08885)	GTCTCCACCGGCACACAGTGC	0.612																																					GBM(127;389 2301 5452 48547)	dbGAP											0													80.0	69.0	72.0					14																	75416089		2203	4300	6503	-	-	-	SO:0001583	missense	0			S72960	CCDS9835.1, CCDS55932.1, CCDS73664.1	14q24.3	2013-02-18	2008-03-20		ENSG00000119630	ENSG00000119630			8893	protein-coding gene	gene with protein product	"""placenta growth factor"""	601121	"""placental growth factor-like"", ""placental growth factor, vascular endothelial growth factor-related protein"""	PGFL		7681160	Standard	NM_002632		Approved	PLGF, PlGF-2, PlGF, SHGC-10760, D12S1900	uc001xqz.3	P49763	OTTHUMG00000171496	ENST00000405431.2:c.286C>T	14.37:g.75416089G>A	ENSP00000385365:p.Pro96Ser		Q07101|Q9BV78|Q9Y6S8	Missense_Mutation	SNP	pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor	p.P96S	ENST00000405431.2	37	c.286	CCDS9835.1	14	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066909	0.76301	.	.	ENSG00000119630	ENST00000555567;ENST00000553716;ENST00000238607;ENST00000405431	.	.	.	4.33	2.36	0.29203	Platelet-derived growth factor (PDGF) (3);	0.132495	0.50627	D	0.000105	T	0.74696	0.3750	M	0.72576	2.205	0.42200	D	0.991762	D;D;D;P	0.69078	0.972;0.997;0.997;0.915	P;P;P;P	0.61940	0.896;0.763;0.846;0.484	T	0.80219	-0.1473	9	0.72032	D	0.01	.	15.3855	0.74695	0.0:0.2795:0.7205:0.0	.	96;96;95;96	P49763;P49763-2;G3XA84;Q53XY6	PLGF_HUMAN;.;.;.	S	96;96;95;96	.	ENSP00000238607:P96S	P	-	1	0	PGF	74485842	1.000000	0.71417	0.716000	0.30569	0.972000	0.66771	5.501000	0.66950	1.010000	0.39314	0.561000	0.74099	CCG	PGF	-	pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor	ENSG00000119630		0.612	PGF-008	KNOWN	basic|CCDS	protein_coding	PGF	HGNC	protein_coding	OTTHUMT00000414064.1	88	0.00	0	G	NM_002632		75416089	75416089	-1	no_errors	ENST00000405431	ensembl	human	known	69_37n	missense	100	14.53	17	SNP	1.000	A
JADE2	23338	genome.wustl.edu	37	5	133909367	133909367	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:133909367C>T	ENST00000282605.4	+	10	1553	c.1467C>T	c.(1465-1467)cgC>cgT	p.R489R	PHF15_ENST00000402835.1_Intron|PHF15_ENST00000395003.1_Silent_p.R489R|PHF15_ENST00000361895.2_Silent_p.R489R																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGACAAGGCGCGAGAGAACGA	0.512																																						dbGAP											0													126.0	100.0	109.0					5																	133909367		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000282605.4:c.1467C>T	5.37:g.133909367C>T				Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R505	ENST00000282605.4	37	c.1515		5																																																																																			PHF15	-	NULL	ENSG00000043143		0.512	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	PHF15	HGNC	protein_coding	OTTHUMT00000251170.1	157	0.00	0	C			133909367	133909367	+1	no_errors	ENST00000448712	ensembl	human	known	69_37n	silent	185	11.48	24	SNP	0.962	T
PHF2	5253	genome.wustl.edu	37	9	96339128	96339128	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:96339128G>A	ENST00000359246.4	+	1	440	c.73G>A	c.(73-75)Gcc>Acc	p.A25T	PHF2_ENST00000375376.4_Missense_Mutation_p.A25T	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	25				FMIECDACKDWFHGSCVGVEEEE -> PRAARPPARPGPTR AAQRRGRAT (in Ref. 2; BAA31637). {ECO:0000305}.	liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CGAGTGCGACGCCTGCAAGGA	0.761																																						dbGAP											0													22.0	19.0	20.0					9																	96339128		2197	4291	6488	-	-	-	SO:0001583	missense	0			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.73G>A	9.37:g.96339128G>A	ENSP00000352185:p.Ala25Thr		Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.A25T	ENST00000359246.4	37	c.73	CCDS35069.1	9	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893181	0.52121	.	.	ENSG00000197724	ENST00000359246;ENST00000375376	T;T	0.12465	2.68;2.68	2.19	1.2	0.21068	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.50627	U	0.000114	T	0.07954	0.0199	N	0.25060	0.705	0.25224	N	0.989881	P	0.41159	0.74	B	0.35240	0.198	T	0.18777	-1.0326	10	0.56958	D	0.05	.	9.6904	0.40125	0.0:0.0:0.7899:0.2101	.	25	O75151	PHF2_HUMAN	T	25	ENSP00000352185:A25T;ENSP00000364525:A25T	ENSP00000352185:A25T	A	+	1	0	PHF2	95378949	1.000000	0.71417	0.995000	0.50966	0.627000	0.37826	1.931000	0.40134	0.019000	0.15079	0.163000	0.16589	GCC	PHF2	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000197724		0.761	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1	55	0.00	0	G	NM_005392		96339128	96339128	+1	no_errors	ENST00000359246	ensembl	human	known	69_37n	missense	57	20.83	15	SNP	1.000	A
PIGQ	9091	genome.wustl.edu	37	16	630909	630909	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:630909C>A	ENST00000026218.5	+	9	1556	c.1468C>A	c.(1468-1470)Ctc>Atc	p.L490I	PIGQ_ENST00000321878.5_Missense_Mutation_p.L490I|PIGQ_ENST00000409527.2_Missense_Mutation_p.L490I	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	490	Leu-rich.				C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCTCGTGGACCTCATCAACTC	0.672																																						dbGAP											0													140.0	132.0	135.0					16																	630909		2201	4300	6501	-	-	-	SO:0001583	missense	0			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1468C>A	16.37:g.630909C>A	ENSP00000026218:p.Leu490Ile		A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	pfam_GlcNAc_Gpi1	p.L490I	ENST00000026218.5	37	c.1468	CCDS10411.1	16	.	.	.	.	.	.	.	.	.	.	C	9.998	1.232816	0.22626	.	.	ENSG00000007541	ENST00000409527;ENST00000321878;ENST00000026218;ENST00000540241	T;T;T	0.48201	0.82;0.82;2.11	5.22	4.25	0.50352	.	0.178007	0.50627	D	0.000120	T	0.34978	0.0916	L	0.29908	0.895	0.80722	D	1	B;B;B	0.31968	0.031;0.349;0.107	B;B;B	0.27076	0.007;0.076;0.056	T	0.18461	-1.0336	10	0.49607	T	0.09	-21.0952	13.0554	0.58977	0.0:0.8384:0.1616:0.0	.	504;490;490	E7ERP4;Q9BRB3;Q9BRB3-2	.;PIGQ_HUMAN;.	I	490;490;490;48	ENSP00000386760:L490I;ENSP00000326674:L490I;ENSP00000026218:L490I	ENSP00000026218:L490I	L	+	1	0	PIGQ	570910	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	1.125000	0.31332	1.166000	0.42689	0.511000	0.50034	CTC	PIGQ	-	NULL	ENSG00000007541		0.672	PIGQ-002	KNOWN	basic|CCDS	protein_coding	PIGQ	HGNC	protein_coding	OTTHUMT00000239270.2	123	0.00	0	C	NM_004204		630909	630909	+1	no_errors	ENST00000026218	ensembl	human	known	69_37n	missense	127	29.83	54	SNP	1.000	A
PIGT	51604	genome.wustl.edu	37	20	44049256	44049256	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:44049256A>G	ENST00000279036.6	+	8	1036	c.956A>G	c.(955-957)gAc>gGc	p.D319G	PIGT_ENST00000279035.9_Missense_Mutation_p.D217G|PIGT_ENST00000543458.2_Missense_Mutation_p.D263G|PIGT_ENST00000341555.5_Missense_Mutation_p.D125G|PIGT_ENST00000535404.1_Missense_Mutation_p.D164G|PIGT_ENST00000372689.5_Missense_Mutation_p.D319G|PIGT_ENST00000545755.1_Missense_Mutation_p.D57G	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	319					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				GCCATCTATGACTTGCTTGAC	0.527																																						dbGAP											0													141.0	105.0	117.0					20																	44049256		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.956A>G	20.37:g.44049256A>G	ENSP00000279036:p.Asp319Gly		B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Missense_Mutation	SNP	pfam_Gpi16	p.D319G	ENST00000279036.6	37	c.956	CCDS13353.1	20	.	.	.	.	.	.	.	.	.	.	A	17.00	3.277995	0.59758	.	.	ENSG00000124155	ENST00000543458;ENST00000372689;ENST00000279035;ENST00000279036;ENST00000455050;ENST00000545755;ENST00000341555;ENST00000535404	T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.72407	0.3456	M	0.87827	2.91	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0;1.0;0.998;0.996;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;0.986;1.0;1.0;0.993;0.999;0.995;0.982;1.0	T	0.77459	-0.2580	10	0.62326	D	0.03	-39.0473	14.7359	0.69414	1.0:0.0:0.0:0.0	.	157;217;164;263;57;125;175;57;319	B7Z3L1;Q969N2-4;F5GWY0;B7Z3N1;B7ZAP3;Q969N2-2;Q969N2-3;B7Z1N3;Q969N2	.;.;.;.;.;.;.;.;PIGT_HUMAN	G	263;319;217;319;217;57;125;164	ENSP00000441577:D263G;ENSP00000361774:D319G;ENSP00000279035:D217G;ENSP00000279036:D319G;ENSP00000443963:D57G;ENSP00000343783:D125G;ENSP00000440528:D164G	ENSP00000279035:D217G	D	+	2	0	PIGT	43482670	1.000000	0.71417	0.971000	0.41717	0.049000	0.14656	7.202000	0.77856	2.254000	0.74563	0.533000	0.62120	GAC	PIGT	-	pfam_Gpi16	ENSG00000124155		0.527	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGT	HGNC	protein_coding	OTTHUMT00000079434.2	267	0.37	1	A	NM_015937		44049256	44049256	+1	no_errors	ENST00000279036	ensembl	human	known	69_37n	missense	241	13.88	39	SNP	1.000	G
PITPNB	23760	genome.wustl.edu	37	22	28292612	28292612	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr22:28292612A>G	ENST00000335272.5	-	6	376	c.300T>C	c.(298-300)aaT>aaC	p.N100N	PITPNB_ENST00000455418.3_Silent_p.N102N|PITPNB_ENST00000320996.10_Silent_p.N100N	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	100					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|lipid metabolic process (GO:0006629)|phospholipid metabolic process (GO:0006644)|phospholipid transport (GO:0015914)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	lipid binding (GO:0008289)			large_intestine(4)|lung(3)|skin(1)	8						TCATATATTCATTCTGCAGAA	0.393																																						dbGAP											0													74.0	69.0	71.0					22																	28292612		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			D30037	CCDS13842.1, CCDS63433.1	22q12.1	2006-12-15			ENSG00000180957	ENSG00000180957			9002	protein-coding gene	gene with protein product		606876				10591208	Standard	NM_012399		Approved	VIB1B	uc003adk.3	P48739	OTTHUMG00000150976	ENST00000335272.5:c.300T>C	22.37:g.28292612A>G			B3KYB8|B7Z7Q0|Q8N5W1	Silent	SNP	pfam_PI_transfer,prints_PI_transfer	p.N102	ENST00000335272.5	37	c.306	CCDS13842.1	22																																																																																			PITPNB	-	pfam_PI_transfer,prints_PI_transfer	ENSG00000180957		0.393	PITPNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITPNB	HGNC	protein_coding	OTTHUMT00000320740.1	135	0.00	0	A			28292612	28292612	-1	no_errors	ENST00000455418	ensembl	human	known	69_37n	silent	42	28.81	17	SNP	1.000	G
PKD1L1	168507	genome.wustl.edu	37	7	47937758	47937758	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:47937758T>C	ENST00000289672.2	-	14	2148	c.2098A>G	c.(2098-2100)Acg>Gcg	p.T700A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	700	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCTTCAAACGTCACTCCCAGC	0.453																																						dbGAP											0													71.0	65.0	67.0					7																	47937758		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.2098A>G	7.37:g.47937758T>C	ENSP00000289672:p.Thr700Ala		Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like	p.T700A	ENST00000289672.2	37	c.2098	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	T	16.40	3.113542	0.56398	.	.	ENSG00000158683	ENST00000289672	T	0.21191	2.02	4.76	4.76	0.60689	Egg jelly receptor, REJ-like (1);	0.000000	0.56097	D	0.000032	T	0.42268	0.1195	M	0.61703	1.905	0.29921	N	0.822708	D	0.89917	1.0	D	0.87578	0.998	T	0.40289	-0.9571	10	0.66056	D	0.02	-13.4641	12.3044	0.54893	0.0:0.0:0.0:1.0	.	700	Q8TDX9	PK1L1_HUMAN	A	700	ENSP00000289672:T700A	ENSP00000289672:T700A	T	-	1	0	PKD1L1	47904283	1.000000	0.71417	0.282000	0.24776	0.450000	0.32258	2.409000	0.44583	2.002000	0.58637	0.519000	0.50382	ACG	PKD1L1	-	pfscan_REJ-like	ENSG00000158683		0.453	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	90	0.00	0	T	NM_138295		47937758	47937758	-1	no_errors	ENST00000289672	ensembl	human	known	69_37n	missense	59	11.76	8	SNP	0.983	C
PLAT	5327	genome.wustl.edu	37	8	42038077	42038077	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:42038077C>T	ENST00000220809.4	-	10	1272	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q	PLAT_ENST00000429089.2_Missense_Mutation_p.R339Q|PLAT_ENST00000352041.3_Missense_Mutation_p.R293Q|PLAT_ENST00000524009.1_Missense_Mutation_p.R250Q|PLAT_ENST00000519510.1_Missense_Mutation_p.R276Q|PLAT_ENST00000429710.2_Missense_Mutation_p.R213Q|PLAT_ENST00000270189.6_Intron	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	339	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	GCACAGGAACCGCTCTCCGGG	0.617																																						dbGAP											0													60.0	66.0	64.0					8																	42038077		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.1016G>A	8.37:g.42038077C>T	ENSP00000220809:p.Arg339Gln		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_Fibronectin_type1,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R339Q	ENST00000220809.4	37	c.1016	CCDS6126.1	8	.	.	.	.	.	.	.	.	.	.	C	8.468	0.856894	0.17106	.	.	ENSG00000104368	ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	5.08	2.1	0.27182	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.645017	0.16216	N	0.224244	T	0.81163	0.4765	N	0.16708	0.43	0.18873	N	0.999985	P;P;D;P;P;P	0.65815	0.747;0.561;0.995;0.556;0.736;0.561	B;B;P;B;B;B	0.52481	0.079;0.033;0.7;0.054;0.038;0.033	T	0.70219	-0.4932	10	0.17832	T	0.49	.	4.2666	0.10766	0.0:0.3699:0.4404:0.1897	.	213;250;276;339;293;339	B4DNJ1;B4DN26;B4DV92;B8ZX62;P00750-3;P00750	.;.;.;.;.;TPA_HUMAN	Q	339;339;293;276;213;250	ENSP00000392045:R339Q;ENSP00000220809:R339Q;ENSP00000270188:R293Q;ENSP00000428886:R276Q;ENSP00000407861:R213Q;ENSP00000429401:R250Q	ENSP00000220809:R339Q	R	-	2	0	PLAT	42157234	0.073000	0.21202	0.898000	0.35279	0.010000	0.07245	0.660000	0.25009	1.253000	0.44018	-0.172000	0.13284	CGG	PLAT	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000104368		0.617	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAT	HGNC	protein_coding	OTTHUMT00000377100.1	52	0.00	0	C	NM_000930		42038077	42038077	-1	no_errors	ENST00000220809	ensembl	human	known	69_37n	missense	111	13.28	17	SNP	0.075	T
PLB1	151056	genome.wustl.edu	37	2	28821595	28821595	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:28821595C>A	ENST00000327757.5	+	35	2486	c.2442C>A	c.(2440-2442)ttC>ttA	p.F814L	PLB1_ENST00000422425.2_Missense_Mutation_p.F803L	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	814	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CGAATGCATTCCTCAATCAAG	0.527																																						dbGAP											0													152.0	140.0	144.0					2																	28821595		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.2442C>A	2.37:g.28821595C>A	ENSP00000330442:p.Phe814Leu		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type	p.F803L	ENST00000327757.5	37	c.2409	CCDS33168.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.23|15.23	2.771162|2.771162	0.49680|0.49680	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000327757;ENST00000422425|ENST00000404858	T;T|.	0.09538|.	2.97;2.97|.	5.84|5.84	4.0|4.0	0.46444|0.46444	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);|.	0.426921|.	0.24833|.	N|.	0.035238|.	T|T	0.64271|0.64271	0.2583|0.2583	M|M	0.76838|0.76838	2.35|2.35	0.53688|0.53688	D|D	0.999977|0.999977	D;D|.	0.76494|.	0.998;0.999|.	D;D|.	0.72625|.	0.972;0.978|.	T|T	0.62248|0.62248	-0.6894|-0.6894	10|5	0.10902|.	T|.	0.67|.	-7.158|-7.158	5.13|5.13	0.14905|0.14905	0.0:0.6128:0.1558:0.2314|0.0:0.6128:0.1558:0.2314	.|.	803;814|.	Q6P1J6-3;Q6P1J6|.	.;PLB1_HUMAN|.	L|Y	814;803|802	ENSP00000330442:F814L;ENSP00000416440:F803L|.	ENSP00000330442:F814L|.	F|S	+|+	3|2	2|0	PLB1|PLB1	28675099|28675099	0.997000|0.997000	0.39634|0.39634	0.532000|0.532000	0.27989|0.27989	0.617000|0.617000	0.37484|0.37484	0.755000|0.755000	0.26405|0.26405	0.775000|0.775000	0.33450|0.33450	0.561000|0.561000	0.74099|0.74099	TTC|TCC	PLB1	-	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type	ENSG00000163803		0.527	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PLB1	HGNC	protein_coding	OTTHUMT00000353348.2	244	0.00	0	C			28821595	28821595	+1	no_errors	ENST00000422425	ensembl	human	known	69_37n	missense	84	14.29	14	SNP	0.798	A
PLEKHA5	54477	genome.wustl.edu	37	12	19518974	19518974	+	Missense_Mutation	SNP	G	G	A	rs376373462		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:19518974G>A	ENST00000299275.6	+	24	3193	c.3187G>A	c.(3187-3189)Gaa>Aaa	p.E1063K	PLEKHA5_ENST00000538714.1_Missense_Mutation_p.E1121K|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E1052K|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E1229K|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E1121K|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E1045K|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E821K|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E1126K|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E1007K	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	1063					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CAGTGTTGACGAACAGGAAGA	0.368																																					Pancreas(196;329 2193 11246 14234 19524)	dbGAP											0													93.0	87.0	89.0					12																	19518974		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.3187G>A	12.37:g.19518974G>A	ENSP00000299275:p.Glu1063Lys		A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP	p.E1126K	ENST00000299275.6	37	c.3376	CCDS8682.1	12	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127416	0.37533	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000538972	T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	4.45	1.6	0.23607	.	0.571274	0.17441	N	0.174124	T	0.24275	0.0588	N	0.17082	0.46	0.09310	N	1	B;B;B;B;B	0.29432	0.035;0.02;0.045;0.056;0.244	B;B;B;B;B	0.25405	0.014;0.006;0.009;0.015;0.06	T	0.19614	-1.0300	10	0.87932	D	0	-6.508	8.4617	0.32931	0.2623:0.0:0.7377:0.0	.	1045;1052;1007;1063;1121	F5H0I0;E7EME8;Q9HAU0-5;Q9HAU0;Q9HAU0-2	.;.;.;PKHA5_HUMAN;.	K	1126;1121;1007;1229;1063;821;1121;1052;1045;344	ENSP00000325155:E1126K;ENSP00000347560:E1121K;ENSP00000352104:E1007K;ENSP00000404296:E1229K;ENSP00000299275:E1063K;ENSP00000440611:E821K;ENSP00000439673:E1121K;ENSP00000400411:E1052K;ENSP00000439837:E1045K;ENSP00000443553:E344K	ENSP00000299275:E1063K	E	+	1	0	PLEKHA5	19410241	0.816000	0.29132	0.006000	0.13384	0.286000	0.27126	2.395000	0.44459	0.609000	0.30018	0.460000	0.39030	GAA	PLEKHA5	-	NULL	ENSG00000052126		0.368	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1	105	0.00	0	G	NM_019012		19518974	19518974	+1	no_errors	ENST00000317589	ensembl	human	known	69_37n	missense	49	15.52	9	SNP	0.047	A
PLEKHG2	64857	genome.wustl.edu	37	19	39914677	39914677	+	Silent	SNP	T	T	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:39914677T>G	ENST00000409794.3	+	19	3754	c.2904T>G	c.(2902-2904)gcT>gcG	p.A968A	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409797.2_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000425673.1_Silent_p.A939A|PLEKHG2_ENST00000458508.2_Silent_p.A909A	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	968					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGTGCCGGCTCTTACAACTT	0.562																																						dbGAP											0													78.0	84.0	82.0					19																	39914677		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.2904T>G	19.37:g.39914677T>G			B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L836R	ENST00000409794.3	37	c.2507	CCDS33022.2	19	.	.	.	.	.	.	.	.	.	.	T	4.575	0.106861	0.08780	.	.	ENSG00000090924	ENST00000205135	.	.	.	3.57	2.52	0.30459	.	.	.	.	.	T	0.31979	0.0814	.	.	.	0.25848	N	0.983974	.	.	.	.	.	.	T	0.21075	-1.0256	4	.	.	.	.	5.8515	0.18696	0.0:0.1247:0.0:0.8753	.	.	.	.	R	836	.	.	L	+	2	0	PLEKHG2	44606517	0.000000	0.05858	0.027000	0.17364	0.013000	0.08279	-0.059000	0.11731	0.707000	0.31934	0.482000	0.46254	CTC	PLEKHG2	-	NULL	ENSG00000090924		0.562	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG2	HGNC	protein_coding	OTTHUMT00000326802.1	62	0.00	0	T	NM_022835		39914677	39914677	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000205135	ensembl	human	putative	69_37n	missense	150	13.29	23	SNP	0.086	G
PLOD2	5352	genome.wustl.edu	37	3	145788886	145788886	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:145788886A>G	ENST00000360060.3	-	18	2178	c.2001T>C	c.(1999-2001)caT>caC	p.H667H	PLOD2_ENST00000461497.1_Silent_p.H348H|RP11-274H2.3_ENST00000490375.1_RNA|PLOD2_ENST00000282903.5_Silent_p.H688H|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Silent_p.H633H|RP11-274H2.2_ENST00000494745.2_RNA	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	667	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TAGAAGCATCATGATGAGGAC	0.358																																						dbGAP											0													84.0	87.0	86.0					3																	145788886		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.2001T>C	3.37:g.145788886A>G			B3KWS3|Q59ED2|Q8N170	Silent	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.H688	ENST00000360060.3	37	c.2064	CCDS3131.1	3																																																																																			PLOD2	-	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	ENSG00000152952		0.358	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLOD2	HGNC	protein_coding	OTTHUMT00000355185.1	206	0.00	0	A	NM_000935		145788886	145788886	-1	no_errors	ENST00000282903	ensembl	human	known	69_37n	silent	46	14.81	8	SNP	0.899	G
PLXNA2	5362	genome.wustl.edu	37	1	208212197	208212197	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:208212197G>A	ENST00000367033.3	-	25	5390	c.4633C>T	c.(4633-4635)Cgg>Tgg	p.R1545W		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1545					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCCCTCGGCCGCTGGGAATAG	0.532																																						dbGAP											0													159.0	141.0	147.0					1																	208212197		2203	4300	6503	-	-	-	SO:0001583	missense	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4633C>T	1.37:g.208212197G>A	ENSP00000356000:p.Arg1545Trp		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.R1545W	ENST00000367033.3	37	c.4633	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939353	0.73557	.	.	ENSG00000076356	ENST00000367033	T	0.15017	2.46	5.62	4.69	0.59074	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.41328	0.1154	M	0.73372	2.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.36915	-0.9728	10	0.87932	D	0	.	14.1171	0.65161	0.0:0.0:0.5655:0.4345	.	1545	O75051	PLXA2_HUMAN	W	1545	ENSP00000356000:R1545W	ENSP00000356000:R1545W	R	-	1	2	PLXNA2	206278820	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.560000	0.36331	1.335000	0.45486	0.650000	0.86243	CGG	PLXNA2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000076356		0.532	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	254	0.00	0	G	NM_025179		208212197	208212197	-1	no_errors	ENST00000367033	ensembl	human	known	69_37n	missense	328	13.00	49	SNP	1.000	A
PLXNB3	5365	genome.wustl.edu	37	X	153036043	153036043	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:153036043C>T	ENST00000361971.5	+	10	2070	c.1956C>T	c.(1954-1956)tgC>tgT	p.C652C	PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Silent_p.C262C|PLXNB3_ENST00000538776.1_Silent_p.C305C|PLXNB3_ENST00000538966.1_Silent_p.C675C	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	652	PSI 2.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GTAGCCACTGCGTGTACGGAG	0.662																																						dbGAP											0													35.0	29.0	31.0					X																	153036043		2190	4291	6481	-	-	-	SO:0001819	synonymous_variant	0			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1956C>T	X.37:g.153036043C>T			B7Z3E6|F5H773|Q9HDA4	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.C675	ENST00000361971.5	37	c.2025	CCDS14729.1	X																																																																																			PLXNB3	-	superfamily_Plexin-like_fold,smart_Plexin-like	ENSG00000198753		0.662	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1	110	0.00	0	C			153036043	153036043	+1	no_errors	ENST00000538966	ensembl	human	known	69_37n	silent	112	18.12	25	SNP	0.003	T
PLXNB3	5365	genome.wustl.edu	37	X	153039724	153039724	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:153039724G>A	ENST00000361971.5	+	21	3717	c.3603G>A	c.(3601-3603)acG>acA	p.T1201T	SRPK3_ENST00000489426.1_5'Flank|PLXNB3_ENST00000538282.1_Silent_p.T811T|PLXNB3_ENST00000538776.1_Silent_p.T854T|PLXNB3_ENST00000538966.1_Silent_p.T1224T	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1201	IPT/TIG 4.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGACGCTCACGCGCACCCACC	0.697													G|||	1	0.000264901	0.0	0.0	3775	,	,		10963	0.0		0.0	False		,,,				2504	0.001					dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.3603G>A	X.37:g.153039724G>A			B7Z3E6|F5H773|Q9HDA4	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.T1224	ENST00000361971.5	37	c.3672	CCDS14729.1	X																																																																																			PLXNB3	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set	ENSG00000198753		0.697	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1	19	0.00	0	G			153039724	153039724	+1	no_errors	ENST00000538966	ensembl	human	known	69_37n	silent	21	22.22	6	SNP	0.723	A
POLD2	5425	genome.wustl.edu	37	7	44156074	44156074	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:44156074G>A	ENST00000406581.2	-	8	1465	c.816C>T	c.(814-816)agC>agT	p.S272S	POLD2_ENST00000452185.1_Silent_p.S272S|POLD2_ENST00000223361.3_Silent_p.S272S	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	272					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CAGCCTCCACGCTGGCTGCCT	0.592																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"""DNA polymerases"""	9176	protein-coding gene	gene with protein product	"""Pol delta B subunit (p50)"", ""DNA polymerase delta subunit p50"""	600815	"""polymerase (DNA directed), delta 2, regulatory subunit (50kD)"", ""polymerase (DNA directed), delta 2, regulatory subunit 50kDa"""			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.816C>T	7.37:g.44156074G>A			A4D2J4|B2R5S4	Silent	SNP	pfam_DNA_pol_alpha/epsilon_bsu	p.S272	ENST00000406581.2	37	c.816	CCDS5477.1	7																																																																																			POLD2	-	pfam_DNA_pol_alpha/epsilon_bsu	ENSG00000106628		0.592	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLD2	HGNC	protein_coding	OTTHUMT00000250994.2	211	0.00	0	G	NM_001127218		44156074	44156074	-1	no_errors	ENST00000406581	ensembl	human	known	69_37n	silent	276	12.66	40	SNP	0.939	A
POLR1B	84172	genome.wustl.edu	37	2	113332666	113332666	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:113332666G>A	ENST00000263331.5	+	15	3348	c.2768G>A	c.(2767-2769)cGc>cAc	p.R923H	POLR1B_ENST00000409894.3_Missense_Mutation_p.R740H|POLR1B_ENST00000417433.2_Missense_Mutation_p.R867H|POLR1B_ENST00000537335.1_Missense_Mutation_p.R712H|POLR1B_ENST00000541869.1_Missense_Mutation_p.R961H	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	923					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TTTCCATCCCGCATGACCATT	0.498																																					Ovarian(16;256 576 9537 23969 41147)	dbGAP											0													127.0	126.0	126.0					2																	113332666		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.2768G>A	2.37:g.113332666G>A	ENSP00000263331:p.Arg923His		B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5	p.R961H	ENST00000263331.5	37	c.2882	CCDS2097.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.149395	0.94645	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433;ENST00000536096	D;D;D;D;D	0.98914	-5.23;-5.23;-5.23;-5.23;-5.23	5.72	5.72	0.89469	DNA-directed RNA polymerase, subunit 2, domain 6 (2);	0.048536	0.85682	D	0.000000	D	0.99612	0.9859	H	0.99368	4.535	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;0.996;1.0;1.0	D	0.97510	1.0066	10	0.87932	D	0	-21.6883	18.6683	0.91501	0.0:0.0:1.0:0.0	.	961;740;867;923	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	H	923;961;740;712;867;282	ENSP00000263331:R923H;ENSP00000444136:R961H;ENSP00000387143:R740H;ENSP00000437914:R712H;ENSP00000405358:R867H	ENSP00000263331:R923H	R	+	2	0	POLR1B	113049137	1.000000	0.71417	0.554000	0.28268	0.979000	0.70002	9.411000	0.97342	2.691000	0.91804	0.655000	0.94253	CGC	POLR1B	-	pfam_DNA-dir_RNA_pol_su2_6	ENSG00000125630		0.498	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1B	HGNC	protein_coding	OTTHUMT00000254083.1	177	0.00	0	G	NM_019014		113332666	113332666	+1	no_errors	ENST00000541869	ensembl	human	known	69_37n	missense	40	18.37	9	SNP	0.974	A
POLR2A	5430	genome.wustl.edu	37	17	7412272	7412272	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:7412272T>C	ENST00000322644.6	+	21	3874	c.3475T>C	c.(3475-3477)Tgc>Cgc	p.C1159R		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1159					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GGATATTCTGTGCCGTCTGGA	0.507																																						dbGAP											0													124.0	113.0	116.0					17																	7412272		2203	4300	6503	-	-	-	SO:0001583	missense	0					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.3475T>C	17.37:g.7412272T>C	ENSP00000314949:p.Cys1159Arg		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.C1159R	ENST00000322644.6	37	c.3475	CCDS32548.1	17	.	.	.	.	.	.	.	.	.	.	T	20.2	3.957081	0.73902	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.66460	-0.21	5.51	5.51	0.81932	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	T	0.72811	0.3507	L	0.54908	1.71	0.80722	D	1	P	0.52316	0.952	P	0.53490	0.727	T	0.76293	-0.3012	10	0.87932	D	0	-16.6178	14.6568	0.68838	0.0:0.0:0.0:1.0	.	1159	P24928	RPB1_HUMAN	R	1115;58;1159	ENSP00000314949:C1159R	ENSP00000314949:C1159R	C	+	1	0	SLC35G6	7352996	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.261000	0.78400	2.109000	0.64355	0.369000	0.22263	TGC	POLR2A	-	pfam_RNA_pol_Rpb1_5	ENSG00000181222		0.507	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	177	0.56	1	T	NM_000937		7412272	7412272	+1	no_errors	ENST00000322644	ensembl	human	known	69_37n	missense	145	27.59	56	SNP	1.000	C
POMGNT1	55624	genome.wustl.edu	37	1	46655663	46655663	+	Splice_Site	SNP	T	T	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:46655663T>G	ENST00000371984.3	-	20	1807		c.e20-2		POMGNT1_ENST00000485714.1_5'Flank|POMGNT1_ENST00000396420.3_Splice_Site|POMGNT1_ENST00000371992.1_Splice_Site|POMGNT1_ENST00000535522.1_Splice_Site|POMGNT1_ENST00000371986.3_Splice_Site	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)						protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					TCAGCCTCACTGCAGTAGAGG	0.537																																						dbGAP											0													48.0	45.0	46.0					1																	46655663		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.1650-2A>C	1.37:g.46655663T>G			D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Splice_Site	SNP	-	e19-2	ENST00000371984.3	37	c.1650-2	CCDS531.1	1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.758245	0.69763	.	.	ENSG00000085998	ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	POMGNT1	46428250	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	7.499000	0.81566	2.324000	0.78689	0.533000	0.62120	.	POMGNT1	-	-	ENSG00000085998		0.537	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMGNT1	HGNC	protein_coding	OTTHUMT00000020146.1	53	0.00	0	T	NM_017739	Intron	46655663	46655663	-1	no_errors	ENST00000371986	ensembl	human	known	69_37n	splice_site	67	23.86	21	SNP	1.000	G
POPDC2	64091	genome.wustl.edu	37	3	119367264	119367264	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:119367264C>A	ENST00000264231.3	-	3	1018	c.852G>T	c.(850-852)aaG>aaT	p.K284N	POPDC2_ENST00000538678.1_Missense_Mutation_p.K284N|POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000493094.1_Missense_Mutation_p.K284N|POPDC2_ENST00000468801.1_Missense_Mutation_p.K284N	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	284					regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		CCTCATCACCCTTCTCGGACT	0.587																																						dbGAP											0													119.0	114.0	116.0					3																	119367264		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.852G>T	3.37:g.119367264C>A	ENSP00000264231:p.Lys284Asn		Q86UE7	Missense_Mutation	SNP	pfam_Popeye_prot,superfamily_cNMP-bd-like	p.K284N	ENST00000264231.3	37	c.852	CCDS2992.1	3	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364038	0.24684	.	.	ENSG00000121577	ENST00000264231;ENST00000493094;ENST00000468801;ENST00000538678	T;T;T;T	0.19532	2.14;2.17;2.14;2.14	5.08	0.939	0.19506	.	0.910971	0.09595	N	0.781079	T	0.28101	0.0693	M	0.63843	1.955	0.32297	N	0.565482	P;P	0.51933	0.949;0.915	P;B	0.48189	0.57;0.302	T	0.42032	-0.9475	10	0.45353	T	0.12	.	9.2211	0.37377	0.0:0.589:0.0:0.411	.	284;284	Q9HBU9-2;Q9HBU9	.;POPD2_HUMAN	N	284	ENSP00000264231:K284N;ENSP00000417250:K284N;ENSP00000420715:K284N;ENSP00000438271:K284N	ENSP00000264231:K284N	K	-	3	2	POPDC2	120849954	0.675000	0.27558	0.992000	0.48379	0.206000	0.24218	0.033000	0.13754	0.294000	0.22547	0.561000	0.74099	AAG	POPDC2	-	NULL	ENSG00000121577		0.587	POPDC2-002	KNOWN	basic|CCDS	protein_coding	POPDC2	HGNC	protein_coding	OTTHUMT00000355378.1	328	0.00	0	C	NM_022135		119367264	119367264	-1	no_errors	ENST00000341124	ensembl	human	known	69_37n	missense	260	11.56	34	SNP	0.998	A
PPFIBP1	8496	genome.wustl.edu	37	12	27840378	27840378	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:27840378A>G	ENST00000318304.8	+	24	2609	c.2326A>G	c.(2326-2328)Atc>Gtc	p.I776V	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.I745V|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.I770V|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.I623V	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	776	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CAAAAGGGCCATCCAGGTCCT	0.453																																						dbGAP											0													163.0	144.0	150.0					12																	27840378		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2326A>G	12.37:g.27840378A>G	ENSP00000314724:p.Ile776Val		O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.I776V	ENST00000318304.8	37	c.2326	CCDS55812.1	12	.	.	.	.	.	.	.	.	.	.	A	15.08	2.726941	0.48833	.	.	ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06	5.71	4.56	0.56223	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.34725	U	0.003733	T	0.74741	0.3756	M	0.64676	1.99	0.80722	D	1	D;P;D;P;D	0.71674	0.998;0.938;0.993;0.783;0.992	D;D;D;P;D	0.85130	0.997;0.968;0.997;0.793;0.995	T	0.75213	-0.3397	10	0.56958	D	0.05	-11.4708	11.467	0.50246	0.9291:0.0:0.0709:0.0	.	623;607;776;770;745	Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4	.;.;LIPB1_HUMAN;.;.	V	607;623;776;745;770	ENSP00000444304:I607V;ENSP00000445425:I623V;ENSP00000314724:I776V;ENSP00000443442:I745V;ENSP00000228425:I770V	ENSP00000228425:I770V	I	+	1	0	PPFIBP1	27731645	1.000000	0.71417	1.000000	0.80357	0.095000	0.18619	9.122000	0.94380	0.997000	0.38969	-0.290000	0.09829	ATC	PPFIBP1	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000110841		0.453	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	PPFIBP1	HGNC	protein_coding	OTTHUMT00000402877.1	291	0.00	0	A	NM_003622		27840378	27840378	+1	no_errors	ENST00000318304	ensembl	human	known	69_37n	missense	57	18.57	13	SNP	1.000	G
PPME1	51400	genome.wustl.edu	37	11	73914814	73914814	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:73914814A>G	ENST00000328257.8	+	2	466	c.143A>G	c.(142-144)cAg>cGg	p.Q48R	PPME1_ENST00000398427.4_Missense_Mutation_p.Q48R|PPME1_ENST00000542710.1_3'UTR			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	48					negative regulation of catalytic activity (GO:0043086)|protein demethylation (GO:0006482)|regulation of catalytic activity (GO:0050790)		protein C-terminal methylesterase activity (GO:0051722)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					CCTTGGAGTCAGTATTTTGAG	0.373																																						dbGAP											0													149.0	141.0	143.0					11																	73914814		1810	4068	5878	-	-	-	SO:0001583	missense	0				CCDS44678.1, CCDS60891.1	11q13.4	2014-03-14			ENSG00000214517	ENSG00000214517	3.1.1.89		30178	protein-coding gene	gene with protein product		611117				10318862	Standard	NM_016147		Approved	PME-1	uc009yty.4	Q9Y570	OTTHUMG00000168115	ENST00000328257.8:c.143A>G	11.37:g.73914814A>G	ENSP00000329867:p.Gln48Arg		B3KMU6|B5MEE7|J3QT22|Q8WYG8|Q9NVT5|Q9UI18	Missense_Mutation	SNP	pirsf_PPase_methylesterase_euk	p.Q48R	ENST00000328257.8	37	c.143	CCDS44678.1	11	.	.	.	.	.	.	.	.	.	.	A	23.6	4.435919	0.83885	.	.	ENSG00000214517	ENST00000328257;ENST00000398427;ENST00000544401	T	0.01287	5.05	5.89	5.89	0.94794	.	0.052398	0.85682	D	0.000000	T	0.01976	0.0062	L	0.41710	1.295	0.80722	D	1	B	0.15473	0.013	B	0.15870	0.014	T	0.60642	-0.7223	10	0.23891	T	0.37	-15.5981	15.2952	0.73898	1.0:0.0:0.0:0.0	.	48	Q9Y570	PPME1_HUMAN	R	48	ENSP00000438632:Q48R	ENSP00000329867:Q48R	Q	+	2	0	PPME1	73592462	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.294000	0.89934	2.246000	0.74042	0.533000	0.62120	CAG	PPME1	-	pirsf_PPase_methylesterase_euk	ENSG00000214517		0.373	PPME1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	PPME1	HGNC	protein_coding	OTTHUMT00000398254.1	120	0.00	0	A	NM_016147		73914814	73914814	+1	no_errors	ENST00000328257	ensembl	human	known	69_37n	missense	57	12.12	8	SNP	1.000	G
PPP1R13L	10848	genome.wustl.edu	37	19	45889119	45889119	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:45889119C>T	ENST00000418234.2	-	10	2122	c.2044G>A	c.(2044-2046)Gcg>Acg	p.A682T	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.A682T	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	682					apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TTGGCACCCGCGGTGATGAGG	0.662																																					Pancreas(61;1447 1663 31419 50578)	dbGAP											0													43.0	44.0	44.0					19																	45889119		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.2044G>A	19.37:g.45889119C>T	ENSP00000403902:p.Ala682Thr		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.A682T	ENST00000418234.2	37	c.2044	CCDS33050.1	19	.	.	.	.	.	.	.	.	.	.	C	6.108	0.388184	0.11581	.	.	ENSG00000104881	ENST00000418234;ENST00000360957;ENST00000221478	T;T	0.65549	-0.16;-0.16	4.85	1.41	0.22369	Src homology-3 domain (1);Ankyrin repeat-containing domain (4);	0.394743	0.27236	N	0.020281	T	0.53626	0.1808	M	0.61703	1.905	0.09310	N	1	B;B	0.17465	0.006;0.022	B;B	0.08055	0.003;0.002	T	0.48603	-0.9021	10	0.46703	T	0.11	.	7.8912	0.29680	0.0:0.6273:0.0:0.3727	.	682;261	Q8WUF5;A7YME7	IASPP_HUMAN;.	T	682;682;256	ENSP00000403902:A682T;ENSP00000354218:A682T	ENSP00000221478:A256T	A	-	1	0	PPP1R13L	50580959	0.001000	0.12720	0.018000	0.16275	0.115000	0.19883	0.391000	0.20784	0.266000	0.21894	-1.134000	0.01955	GCG	PPP1R13L	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000104881		0.662	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPP1R13L	HGNC	protein_coding	OTTHUMT00000457586.1	112	0.00	0	C	NM_006663		45889119	45889119	-1	no_errors	ENST00000360957	ensembl	human	known	69_37n	missense	216	11.02	27	SNP	0.007	T
PPP1R9A	55607	genome.wustl.edu	37	7	94918001	94918002	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:94918001_94918002insA	ENST00000433881.1	+	15	3587_3588	c.3055_3056insA	c.(3055-3057)ctcfs	p.L1019fs	PPP1R9A_ENST00000340694.4_Frame_Shift_Ins_p.L1019fs|PPP1R9A_ENST00000289495.5_Frame_Shift_Ins_p.L1217fs|PPP1R9A_ENST00000424654.1_Intron|PPP1R9A_ENST00000433360.1_Frame_Shift_Ins_p.L1295fs|PPP1R9A_ENST00000456331.2_Intron			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	1019	Interacts with TGN38. {ECO:0000250}.|SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TGGAGAACAGCTCCTGCAGTTG	0.381										HNSCC(28;0.073)																												dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	Exception_encountered	7.37:g.94918001_94918002insA	ENSP00000398870:p.Leu1019fs		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Frame_Shift_Ins	INS	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.L1217fs	ENST00000433881.1	37	c.3649_3650	CCDS34683.1	7																																																																																			PPP1R9A	-	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000158528		0.381	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1	205	0.00	0	-	NM_001166160		94918001	94918002	+1	no_errors	ENST00000289495	ensembl	human	known	69_37n	frame_shift_ins	51	10.53	6	INS	1.000:1.000	A
PPP1R9B	84687	genome.wustl.edu	37	17	48218667	48218667	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:48218667G>A	ENST00000316878.6	-	6	1693	c.1691C>T	c.(1690-1692)gCg>gTg	p.A564V	PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	564	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						GAGCACAGACGCCGCGAAGCT	0.627																																						dbGAP											0													44.0	48.0	47.0					17																	48218667		2064	4201	6265	-	-	-	SO:0001583	missense	0			AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9298	protein-coding gene	gene with protein product	"""spinophilin"", ""Neurabin-2"""	603325	"""protein phosphatase 1, regulatory subunit 9B, spinophilin"", ""protein phosphatase 1, regulatory (inhibitor) subunit 9B"""	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.1691C>T	17.37:g.48218667G>A	ENSP00000475417:p.Ala564Val		Q8TCR9	RNA	SNP	-	NULL	ENST00000316878.6	37	NULL		17																																																																																			PPP1R9B	-	-	ENSG00000108819		0.627	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	PPP1R9B	HGNC	protein_coding		140	0.00	0	G	NM_032595		48218667	48218667	-1	no_errors	ENST00000316878	ensembl	human	known	69_37n	rna	136	29.02	56	SNP	1.000	A
PPP2R1A	5518	genome.wustl.edu	37	19	52693367	52693367	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:52693367C>T	ENST00000322088.6	+	1	76	c.18C>T	c.(16-18)ggC>ggT	p.G6G	PPP2R1A_ENST00000444322.2_5'UTR|PPP2R1A_ENST00000477989.1_Silent_p.G6G	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	6					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CGGCCGACGGCGACGACTCGC	0.652			Mis		clear cell ovarian carcinoma																																	dbGAP		Dom?	yes		19	19q13.41	5518	"""protein phosphatase 2, regulatory subunit A, alpha"""		E	0													18.0	15.0	16.0					19																	52693367		1970	3794	5764	-	-	-	SO:0001819	synonymous_variant	0				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.18C>T	19.37:g.52693367C>T			Q13773|Q6ICQ3|Q96DH3	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.G6	ENST00000322088.6	37	c.18	CCDS12849.1	19																																																																																			PPP2R1A	-	superfamily_ARM-type_fold	ENSG00000105568		0.652	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R1A	HGNC	protein_coding	OTTHUMT00000267967.2	73	0.00	0	C	NM_014225		52693367	52693367	+1	no_errors	ENST00000322088	ensembl	human	known	69_37n	silent	72	11.11	9	SNP	0.999	T
PPP3CA	5530	genome.wustl.edu	37	4	101953498	101953498	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:101953498G>A	ENST00000394854.3	-	12	1948	c.1265C>T	c.(1264-1266)aCg>aTg	p.T422M	PPP3CA_ENST00000507176.1_Missense_Mutation_p.T324M|PPP3CA_ENST00000323055.6_Missense_Mutation_p.T380M|PPP3CA_ENST00000523694.2_Missense_Mutation_p.T355M|PPP3CA_ENST00000394853.4_Missense_Mutation_p.T422M|PPP3CA_ENST00000512215.1_Missense_Mutation_p.T190M	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	422					calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GCCTTTCAGCGTCAGCACACT	0.468																																						dbGAP											0													102.0	79.0	87.0					4																	101953498		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.1265C>T	4.37:g.101953498G>A	ENSP00000378323:p.Thr422Met		A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.T422M	ENST00000394854.3	37	c.1265	CCDS34037.1	4	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246210	0.80024	.	.	ENSG00000138814	ENST00000512215;ENST00000394854;ENST00000323055;ENST00000394853;ENST00000507176;ENST00000523694	T;T;T;T;T;T	0.05717	3.4;3.4;3.4;3.4;3.4;3.4	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.12008	0.0292	N	0.12182	0.205	0.80722	D	1	B;D;B;B;B;B	0.71674	0.425;0.998;0.244;0.358;0.148;0.172	B;D;B;B;B;B	0.64595	0.075;0.927;0.043;0.066;0.02;0.02	T	0.39251	-0.9623	10	0.38643	T	0.18	-11.5772	19.1841	0.93635	0.0:0.0:1.0:0.0	.	422;190;380;422;324;355	Q08209;A8W6Z8;A8W6Z7;Q08209-2;E7ETC2;A1A441	PP2BA_HUMAN;.;.;.;.;.	M	190;422;380;422;324;355	ENSP00000422781:T190M;ENSP00000378323:T422M;ENSP00000320580:T380M;ENSP00000378322:T422M;ENSP00000422990:T324M;ENSP00000429350:T355M	ENSP00000320580:T380M	T	-	2	0	PPP3CA	102172521	1.000000	0.71417	0.986000	0.45419	0.999000	0.98932	9.507000	0.97996	2.537000	0.85549	0.655000	0.94253	ACG	PPP3CA	-	NULL	ENSG00000138814		0.468	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PPP3CA	HGNC	protein_coding	OTTHUMT00000258379.2	190	0.00	0	G	NM_000944		101953498	101953498	-1	no_errors	ENST00000394854	ensembl	human	known	69_37n	missense	30	26.83	11	SNP	1.000	A
PQLC2	54896	genome.wustl.edu	37	1	19644224	19644224	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:19644224C>A	ENST00000375153.3	+	2	693	c.53C>A	c.(52-54)tCc>tAc	p.S18Y	PQLC2_ENST00000400548.2_Intron|PQLC2_ENST00000375155.3_Missense_Mutation_p.S18Y|RN7SL85P_ENST00000583604.1_RNA	NM_001040125.1	NP_001035214.1	Q6ZP29	LAAT1_HUMAN	PQ loop repeat containing 2	18					amino acid homeostasis (GO:0080144)|arginine transport (GO:0015809)|lysine transport (GO:0015819)	integral component of organelle membrane (GO:0031301)|lysosomal membrane (GO:0005765)	arginine transmembrane transporter activity (GO:0015181)|basic amino acid transmembrane transporter activity (GO:0015174)|L-lysine transmembrane transporter activity (GO:0015189)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAGTGGCTCCATCCAGTGG	0.642																																						dbGAP											0													185.0	183.0	184.0					1																	19644224		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015324	CCDS195.2, CCDS30618.1	1p36.13	2013-10-11			ENSG00000040487	ENSG00000040487			26001	protein-coding gene	gene with protein product		614760				23169667	Standard	XM_005245915		Approved	FLJ20320	uc001bby.3	Q6ZP29	OTTHUMG00000002521	ENST00000375153.3:c.53C>A	1.37:g.19644224C>A	ENSP00000364295:p.Ser18Tyr		B3KWQ5|Q6ZMJ3|Q6ZP27|Q9NXC7	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt,smart_CTNS	p.S18Y	ENST00000375153.3	37	c.53	CCDS195.2	1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896493	0.33442	.	.	ENSG00000040487	ENST00000375155;ENST00000375153	T;T	0.46451	0.87;0.87	5.39	5.39	0.77823	.	0.207335	0.42420	D	0.000710	T	0.46541	0.1398	M	0.69823	2.125	0.80722	D	1	D	0.54397	0.966	B	0.42738	0.396	T	0.47971	-0.9075	10	0.31617	T	0.26	-18.9089	17.7092	0.88317	0.0:1.0:0.0:0.0	.	18	Q6ZP29	PQLC2_HUMAN	Y	18	ENSP00000364297:S18Y;ENSP00000364295:S18Y	ENSP00000364295:S18Y	S	+	2	0	PQLC2	19516811	1.000000	0.71417	0.924000	0.36721	0.081000	0.17604	5.657000	0.67996	2.539000	0.85634	0.478000	0.44815	TCC	PQLC2	-	NULL	ENSG00000040487		0.642	PQLC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PQLC2	HGNC	protein_coding	OTTHUMT00000007255.1	223	0.00	0	C	NM_017765		19644224	19644224	+1	no_errors	ENST00000375153	ensembl	human	known	69_37n	missense	235	18.69	54	SNP	0.966	A
PRDM15	63977	genome.wustl.edu	37	21	43221614	43221614	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr21:43221614T>C	ENST00000269844.3	-	31	4420	c.4310A>G	c.(4309-4311)aAc>aGc	p.N1437S	PRDM15_ENST00000422911.1_Missense_Mutation_p.N1128S|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_Missense_Mutation_p.N1108S|PRDM15_ENST00000447207.2_Missense_Mutation_p.N1071S|PRDM15_ENST00000538201.1_Missense_Mutation_p.N1091S	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						AGACTGTGGGTTCGAGGCTTC	0.597																																						dbGAP											0													105.0	88.0	94.0					21																	43221614		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.4310A>G	21.37:g.43221614T>C	ENSP00000269844:p.Asn1437Ser		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.N1437S	ENST00000269844.3	37	c.4310	CCDS13676.1	21	.	.	.	.	.	.	.	.	.	.	t	8.974	0.973778	0.18736	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	4.39	0.56	0.17279	.	.	.	.	.	T	0.18676	0.0448	N	0.19112	0.55	0.20975	N	0.999819	B;B;B	0.19583	0.037;0.002;0.001	B;B;B	0.14023	0.01;0.002;0.002	T	0.20907	-1.0261	9	0.62326	D	0.03	-25.1318	7.7137	0.28692	0.0:0.3451:0.0:0.6549	.	1437;1128;1108	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	S	1128;1108;1091;1071;1437	ENSP00000408592:N1128S;ENSP00000381556:N1108S;ENSP00000444044:N1091S;ENSP00000390245:N1071S;ENSP00000269844:N1437S	ENSP00000269844:N1437S	N	-	2	0	PRDM15	42094683	1.000000	0.71417	0.048000	0.18961	0.384000	0.30261	2.161000	0.42358	-0.158000	0.11040	0.375000	0.23000	AAC	PRDM15	-	NULL	ENSG00000141956		0.597	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	HGNC	protein_coding		190	0.00	0	T	NM_022115		43221614	43221614	-1	no_errors	ENST00000269844	ensembl	human	known	69_37n	missense	312	10.54	37	SNP	0.475	C
PRKAR2A	5576	genome.wustl.edu	37	3	48789671	48789671	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:48789671G>A	ENST00000265563.8	-	10	1268	c.1019C>T	c.(1018-1020)gCc>gTc	p.A340V	PRKAR2A_ENST00000296446.8_Missense_Mutation_p.A318V|PRKAR2A_ENST00000454963.1_Missense_Mutation_p.A340V	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	340					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|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)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		GGTGACCAGGGCAAGCTCTCC	0.453																																						dbGAP											0													110.0	96.0	100.0					3																	48789671		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2778.1	3p21.3-p21.2	2009-07-10			ENSG00000114302	ENSG00000114302	2.7.11.1		9391	protein-coding gene	gene with protein product		176910		PRKAR2		9676433	Standard	NM_004157		Approved		uc003cux.1	P13861	OTTHUMG00000133540	ENST00000265563.8:c.1019C>T	3.37:g.48789671G>A	ENSP00000265563:p.Ala340Val		Q16823|Q9BUB1	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin	p.A340V	ENST00000265563.8	37	c.1019	CCDS2778.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.647936	0.96714	.	.	ENSG00000114302	ENST00000265563;ENST00000454963;ENST00000296446	D;D;D	0.94457	-3.43;-3.43;-3.43	5.11	5.11	0.69529	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98362	0.9456	H	0.96996	3.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99160	1.0861	10	0.87932	D	0	-0.4986	19.0887	0.93217	0.0:0.0:1.0:0.0	.	318;340	Q9BUB1;P13861	.;KAP2_HUMAN	V	340;340;318	ENSP00000265563:A340V;ENSP00000394041:A340V;ENSP00000296446:A318V	ENSP00000265563:A340V	A	-	2	0	PRKAR2A	48764675	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.584000	0.98220	2.826000	0.97356	0.655000	0.94253	GCC	PRKAR2A	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin	ENSG00000114302		0.453	PRKAR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAR2A	HGNC	protein_coding	OTTHUMT00000257518.1	172	0.00	0	G			48789671	48789671	-1	no_errors	ENST00000265563	ensembl	human	known	69_37n	missense	116	17.14	24	SNP	1.000	A
PRKRIP1	79706	genome.wustl.edu	37	7	102006523	102006523	+	5'UTR	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:102006523G>T	ENST00000496391.1	+	0	637				RP11-163E9.2_ENST00000492837.1_RNA|PRKRIP1_ENST00000482465.1_3'UTR			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)						negative regulation of phosphorylation (GO:0042326)|negative regulation of protein kinase activity (GO:0006469)|renal system process (GO:0003014)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|lung(4)|ovary(1)	6						ACACATTGCAGGTGAGTTTTC	0.398																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AK023964	CCDS34714.1	7q22.1	2013-01-09			ENSG00000128563	ENSG00000128563		"""Zinc fingers, C2H2-type"", ""-"""	21894	protein-coding gene	gene with protein product	"""likely ortholog of mouse C114 dsRNA-binding protein"", ""KRAB box domain containing 3"""					12679338	Standard	NM_024653		Approved	C114, FLJ13902, KRBOX3	uc003uzh.2	Q9H875	OTTHUMG00000157717	ENST00000496391.1:c.-674G>T	7.37:g.102006523G>T			B4DGM2|Q8NDM6|Q96CF8	RNA	SNP	-	NULL	ENST00000496391.1	37	NULL	CCDS34714.1	7																																																																																			PRKRIP1	-	-	ENSG00000128563		0.398	PRKRIP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRKRIP1	HGNC	protein_coding	OTTHUMT00000349489.1	38	0.00	0	G	NM_024653		102006523	102006523	+1	no_errors	ENST00000469763	ensembl	human	known	69_37n	rna	57	26.58	21	SNP	0.517	T
PRPF40B	25766	genome.wustl.edu	37	12	50037096	50037096	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:50037096C>T	ENST00000380281.1	+	22	2297	c.2233C>T	c.(2233-2235)Ccc>Tcc	p.P745S	FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000261897.1_Missense_Mutation_p.P732S|PRPF40B_ENST00000548825.2_Missense_Mutation_p.P766S			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	745					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						AGGCTCTGAGCCCTCTTCCTC	0.612																																						dbGAP											0													82.0	87.0	85.0					12																	50037096		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2233C>T	12.37:g.50037096C>T	ENSP00000369634:p.Pro745Ser		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.P745S	ENST00000380281.1	37	c.2233		12	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046381	0.55110	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.20738	2.05;2.05	5.28	5.28	0.74379	.	0.177169	0.39985	N	0.001215	T	0.07818	0.0196	N	0.02286	-0.61	0.80722	D	1	B;B;B	0.29552	0.16;0.248;0.248	B;B;B	0.26202	0.03;0.067;0.067	T	0.35724	-0.9777	10	0.22109	T	0.4	-8.9923	9.5008	0.39017	0.1584:0.6884:0.1533:0.0	.	745;732;744	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	S	732;745	ENSP00000261897:P732S;ENSP00000369634:P745S	ENSP00000261897:P732S	P	+	1	0	PRPF40B	48323363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.221000	0.42917	2.649000	0.89929	0.561000	0.74099	CCC	PRPF40B	-	NULL	ENSG00000110844		0.612	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	HGNC	protein_coding	OTTHUMT00000404838.1	87	0.00	0	C	NM_012272		50037096	50037096	+1	no_errors	ENST00000380281	ensembl	human	known	69_37n	missense	60	26.83	22	SNP	1.000	T
PRPF8	10594	genome.wustl.edu	37	17	1580872	1580872	+	Silent	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:1580872G>T	ENST00000572621.1	-	13	2236	c.1971C>A	c.(1969-1971)gcC>gcA	p.A657A	PRPF8_ENST00000304992.6_Silent_p.A657A			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	657					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CAAACTGCCGGGCCAGGAGGT	0.527																																						dbGAP											0													86.0	86.0	86.0					17																	1580872		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.1971C>A	17.37:g.1580872G>T			O14547|O75965	Silent	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1	p.A657	ENST00000572621.1	37	c.1971	CCDS11010.1	17																																																																																			PRPF8	-	pfam_PROCN	ENSG00000174231		0.527	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	54	0.00	0	G			1580872	1580872	-1	no_errors	ENST00000304992	ensembl	human	known	69_37n	silent	60	21.05	16	SNP	1.000	T
PRPS2	5634	genome.wustl.edu	37	X	12809625	12809625	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:12809625C>T	ENST00000380668.5	+	1	137	c.9C>T	c.(7-9)aaC>aaT	p.N3N	PRPS2_ENST00000489404.1_Silent_p.N3N|PRPS2_ENST00000398491.2_Silent_p.N3N	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	3					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						CCATGCCCAACATCGTGCTGT	0.706																																						dbGAP											0													14.0	13.0	14.0					X																	12809625		2151	4186	6337	-	-	-	SO:0001819	synonymous_variant	0			Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"""PRS II"", ""ribose-phosphate diphosphokinase 2"""	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.9C>T	X.37:g.12809625C>T			Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Silent	SNP	pfam_PRibTrfase,tigrfam_Rib-P_diPkinase	p.N3	ENST00000380668.5	37	c.9	CCDS14150.1	X																																																																																			PRPS2	-	NULL	ENSG00000101911		0.706	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRPS2	HGNC	protein_coding	OTTHUMT00000055772.2	28	0.00	0	C	NM_002765		12809625	12809625	+1	no_errors	ENST00000398491	ensembl	human	known	69_37n	silent	39	18.37	9	SNP	1.000	T
PRRC2C	23215	genome.wustl.edu	37	1	171492516	171492516	+	Intron	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:171492516T>C	ENST00000338920.4	+	8	1198				PRRC2C_ENST00000426496.2_Intron|PRRC2C_ENST00000392078.3_Intron|PRRC2C_ENST00000367742.3_Intron|PRRC2C_ENST00000476522.1_Intron	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C						hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										ATTAATTAAGTCCTTTAAATT	0.373																																						dbGAP											0													69.0	69.0	69.0					1																	171492516		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.961+23T>C	1.37:g.171492516T>C			Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	RNA	SNP	-	NULL	ENST00000338920.4	37	NULL	CCDS1296.2	1																																																																																			PRRC2C	-	-	ENSG00000117523		0.373	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	85	0.00	0	T	NM_015172		171492516	171492516	+1	no_errors	ENST00000470689	ensembl	human	putative	69_37n	rna	38	13.64	6	SNP	0.000	C
PRRC2C	23215	genome.wustl.edu	37	1	171544266	171544266	+	Splice_Site	SNP	A	A	G	rs534777054		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:171544266A>G	ENST00000338920.4	+	25	7185	c.6948A>G	c.(6946-6948)tcA>tcG	p.S2316S	PRRC2C_ENST00000426496.2_Splice_Site_p.S2251S|PRRC2C_ENST00000392078.3_Splice_Site_p.S2318S|PRRC2C_ENST00000367742.3_Splice_Site_p.S2318S	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2316					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CATCACTATCAGGTAGAACTT	0.373																																						dbGAP											0													102.0	98.0	99.0					1																	171544266		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.6949+1A>G	1.37:g.171544266A>G			Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	NULL	p.Q799R	ENST00000338920.4	37	c.2396	CCDS1296.2	1	.	.	.	.	.	.	.	.	.	.	A	12.44	1.939963	0.34283	.	.	ENSG00000117523	ENST00000495585	.	.	.	5.56	4.41	0.53225	.	.	.	.	.	T	0.50548	0.1622	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50516	-0.8819	4	.	.	.	.	11.8092	0.52173	0.8684:0.0:0.0:0.1316	.	.	.	.	R	799	.	.	Q	+	2	0	PRRC2C	169810890	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.739000	0.62080	0.900000	0.36469	0.482000	0.46254	CAG	PRRC2C	-	NULL	ENSG00000117523		0.373	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	226	0.00	0	A	NM_015172	Silent	171544266	171544266	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000495585	ensembl	human	novel	69_37n	missense	93	13.08	14	SNP	1.000	G
PRTG	283659	genome.wustl.edu	37	15	55974695	55974696	+	Splice_Site	INS	-	-	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:55974695_55974696insT	ENST00000389286.4	-	4	590	c.543_543insA	c.(541-543)agg>agAg	p.R181fs	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GGGCAGTTATCCTGTTATGAGA	0.327																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.543-1->A	15.37:g.55974695_55974696insT				Frame_Shift_Ins	INS	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I183fs	ENST00000389286.4	37	c.543_544	CCDS42040.1	15																																																																																			PRTG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000166450		0.327	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTG	HGNC	protein_coding	OTTHUMT00000419357.1	139	0.00	0	-	NM_173814	Frame_Shift_Ins	55974695	55974696	-1	no_errors	ENST00000389286	ensembl	human	known	69_37n	frame_shift_ins	16	15.79	3	INS	1.000:1.000	T
PSIP1	11168	genome.wustl.edu	37	9	15490114	15490114	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:15490114delA	ENST00000380733.4	-	4	501	c.158delT	c.(157-159)ttafs	p.L53fs	PSIP1_ENST00000380738.4_Frame_Shift_Del_p.L53fs|PSIP1_ENST00000380716.4_Frame_Shift_Del_p.L53fs|PSIP1_ENST00000397519.2_Frame_Shift_Del_p.L53fs|PSIP1_ENST00000380715.1_Frame_Shift_Del_p.L53fs			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	53	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CTTTGGTCCTAAAAAAGCACT	0.303																																						dbGAP											0													62.0	58.0	59.0					9																	15490114		2202	4294	6496	-	-	-	SO:0001589	frameshift_variant	0			AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.158delT	9.37:g.15490114delA	ENSP00000370109:p.Leu53fs		D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Frame_Shift_Del	DEL	pfam_LEDGF,pfam_PWWP,smart_PWWP,prints_Treacle-like_TCS,pfscan_PWWP	p.L53fs	ENST00000380733.4	37	c.158	CCDS6479.1	9																																																																																			PSIP1	-	pfam_PWWP,smart_PWWP,pfscan_PWWP	ENSG00000164985		0.303	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PSIP1	HGNC	protein_coding	OTTHUMT00000055445.1	74	0.00	0	A	NM_033222		15490114	15490114	-1	no_errors	ENST00000380733	ensembl	human	known	69_37n	frame_shift_del	31	28.89	13	DEL	1.000	-
PTBP1	5725	genome.wustl.edu	37	19	808430	808430	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:808430G>A	ENST00000349038.4	+	11	1219	c.1146G>A	c.(1144-1146)gcG>gcA	p.A382A	PTBP1_ENST00000356948.6_Silent_p.A408A|PTBP1_ENST00000394601.4_Silent_p.A401A|PTBP1_ENST00000350092.4_Silent_p.A48A	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	382	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCAGATGGCGGACGGCAACC	0.682																																						dbGAP											0													23.0	21.0	21.0					19																	808430		2195	4296	6491	-	-	-	SO:0001819	synonymous_variant	0			X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.1146G>A	19.37:g.808430G>A			Q9BUQ0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R215Q	ENST00000349038.4	37	c.644	CCDS32859.1	19																																																																																			PTBP1	-	smart_RRM_dom	ENSG00000011304		0.682	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTBP1	HGNC	protein_coding	OTTHUMT00000457605.1	28	0.00	0	G			808430	808430	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000585956	ensembl	human	novel	69_37n	missense	53	18.46	12	SNP	0.006	A
PTDSS2	81490	genome.wustl.edu	37	11	473896	473896	+	Splice_Site	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:473896G>T	ENST00000308020.5	+	3	462	c.286G>T	c.(286-288)Ggt>Tgt	p.G96C		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	96					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	TATTTGCAGAGGTATTGTGGC	0.502																																						dbGAP											0													299.0	249.0	266.0					11																	473896		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.285-1G>T	11.37:g.473896G>T				Missense_Mutation	SNP	pfam_PSS	p.G96C	ENST00000308020.5	37	c.286	CCDS7696.1	11	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024032	0.75390	.	.	ENSG00000174915	ENST00000308020	.	.	.	4.91	3.96	0.45880	.	0.130678	0.51477	D	0.000095	T	0.75925	0.3916	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.78104	-0.2334	9	0.87932	D	0	-7.4445	11.6628	0.51356	0.0937:0.0:0.9063:0.0	.	96	Q9BVG9	PTSS2_HUMAN	C	96	.	ENSP00000308258:G96C	G	+	1	0	PTDSS2	463896	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.943000	0.92975	1.130000	0.42092	0.462000	0.41574	GGT	PTDSS2	-	NULL	ENSG00000174915		0.502	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTDSS2	HGNC	protein_coding	OTTHUMT00000239301.2	359	0.00	0	G		Missense_Mutation	473896	473896	+1	no_errors	ENST00000308020	ensembl	human	known	69_37n	missense	559	14.61	96	SNP	1.000	T
PTGER3	5733	genome.wustl.edu	37	1	71477967	71477967	+	Intron	DEL	G	G	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:71477967delG	ENST00000306666.5	-	2	1288				PTGER3_ENST00000370924.4_Frame_Shift_Del_p.S366fs|PTGER3_ENST00000414819.1_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000351052.5_Frame_Shift_Del_p.S366fs|PTGER3_ENST00000356595.4_Intron	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)						cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	CATTAGAGCAGCTGGAGACAG	0.428																																						dbGAP											0													105.0	100.0	102.0					1																	71477967		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.1077+20C>-	1.37:g.71477967delG			B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_supfam,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Thbox_rcpt	p.C367fs	ENST00000306666.5	37	c.1098	CCDS657.1	1																																																																																			PTGER3	-	NULL	ENSG00000050628		0.428	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTGER3	HGNC	protein_coding	OTTHUMT00000026076.1	107	0.00	0	G	NM_000957		71477967	71477967	-1	no_errors	ENST00000351052	ensembl	human	known	69_37n	frame_shift_del	19	13.64	3	DEL	1.000	-
PTGER3	5733	genome.wustl.edu	37	1	71477970	71477971	+	Intron	INS	-	-	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:71477970_71477971insC	ENST00000306666.5	-	2	1288				PTGER3_ENST00000370924.4_Frame_Shift_Ins_p.S365fs|PTGER3_ENST00000414819.1_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000351052.5_Frame_Shift_Ins_p.S365fs|PTGER3_ENST00000356595.4_Intron	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)						cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	TAGAGCAGCTGGAGACAGCATT	0.426																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.1077+16->G	1.37:g.71477970_71477971insC			B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_supfam,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Thbox_rcpt	p.S366fs	ENST00000306666.5	37	c.1095_1094	CCDS657.1	1																																																																																			PTGER3	-	NULL	ENSG00000050628		0.426	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTGER3	HGNC	protein_coding	OTTHUMT00000026076.1	111	0.00	0	-	NM_000957		71477970	71477971	-1	no_errors	ENST00000351052	ensembl	human	known	69_37n	frame_shift_ins	19	13.64	3	INS	1.000:1.000	C
PTGFRN	5738	genome.wustl.edu	37	1	117509637	117509637	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:117509637C>T	ENST00000393203.2	+	6	1891	c.1744C>T	c.(1744-1746)Cgc>Tgc	p.R582C		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	582	Ig-like C2-type 5.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TAAGTCGCCACGCTACTCTGT	0.488																																						dbGAP											0													62.0	65.0	64.0					1																	117509637		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.1744C>T	1.37:g.117509637C>T	ENSP00000376899:p.Arg582Cys		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R582C	ENST00000393203.2	37	c.1744	CCDS890.1	1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.547055	0.65198	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.11604	2.76	5.56	4.59	0.56863	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.057532	0.64402	D	0.000001	T	0.18002	0.0432	L	0.51422	1.61	0.54753	D	0.999989	D	0.89917	1.0	D	0.76071	0.987	T	0.00093	-1.2081	10	0.59425	D	0.04	-27.1212	13.2453	0.60020	0.1594:0.8406:0.0:0.0	.	582	Q9P2B2	FPRP_HUMAN	C	582;441	ENSP00000376899:R582C	ENSP00000376899:R582C	R	+	1	0	PTGFRN	117311160	0.978000	0.34361	0.988000	0.46212	0.867000	0.49689	2.433000	0.44793	2.787000	0.95880	0.650000	0.86243	CGC	PTGFRN	-	smart_Ig_sub	ENSG00000134247		0.488	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGFRN	HGNC	protein_coding	OTTHUMT00000033271.1	74	0.00	0	C	NM_020440		117509637	117509637	+1	no_errors	ENST00000393203	ensembl	human	known	69_37n	missense	18	21.74	5	SNP	0.973	T
PTGS2	5743	genome.wustl.edu	37	1	186644409	186644409	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:186644409C>T	ENST00000367468.5	-	9	1513	c.1377G>A	c.(1375-1377)aaG>aaA	p.K459K	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	459					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	ATTCATAGGGCTTCAGCATAA	0.373																																						dbGAP											0													106.0	109.0	108.0					1																	186644409		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.1377G>A	1.37:g.186644409C>T			A8K802|Q16876	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal	p.K459	ENST00000367468.5	37	c.1377	CCDS1371.1	1																																																																																			PTGS2	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000073756		0.373	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS2	HGNC	protein_coding	OTTHUMT00000086157.2	65	0.00	0	C	NM_000963		186644409	186644409	-1	no_errors	ENST00000367468	ensembl	human	known	69_37n	silent	110	16.03	21	SNP	0.998	T
PTPN23	25930	genome.wustl.edu	37	3	47452997	47452997	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:47452997C>T	ENST00000265562.4	+	20	3786	c.3709C>T	c.(3709-3711)Cgc>Tgc	p.R1237C	PTPN23_ENST00000431726.1_Missense_Mutation_p.R1111C	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1237	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGTGGTGCTGCGCTCAGGCAA	0.617																																						dbGAP											0													99.0	81.0	87.0					3																	47452997		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.3709C>T	3.37:g.47452997C>T	ENSP00000265562:p.Arg1237Cys		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.R1237C	ENST00000265562.4	37	c.3709	CCDS2754.1	3	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587673	0.66105	.	.	ENSG00000076201	ENST00000265562	D	0.84070	-1.8	4.62	4.62	0.57501	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.075645	0.56097	D	0.000040	D	0.87055	0.6082	L	0.45352	1.415	0.49798	D	0.999821	D;D	0.89917	1.0;1.0	D;P	0.64506	0.926;0.877	D	0.88505	0.3085	10	0.72032	D	0.01	-21.3152	16.3982	0.83630	0.0:1.0:0.0:0.0	.	1111;1237	B4DST5;Q9H3S7	.;PTN23_HUMAN	C	1237	ENSP00000265562:R1237C	ENSP00000265562:R1237C	R	+	1	0	PTPN23	47428001	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.506000	0.60428	2.389000	0.81357	0.563000	0.77884	CGC	PTPN23	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000076201		0.617	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN23	HGNC	protein_coding	OTTHUMT00000257492.2	69	0.00	0	C	NM_015466		47452997	47452997	+1	no_errors	ENST00000265562	ensembl	human	known	69_37n	missense	72	15.29	13	SNP	1.000	T
PTPRU	10076	genome.wustl.edu	37	1	29649886	29649886	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:29649886T>C	ENST00000345512.3	+	28	3991	c.3862T>C	c.(3862-3864)Tgc>Cgc	p.C1288R	PTPRU_ENST00000323874.8_Missense_Mutation_p.C1284R|PTPRU_ENST00000373779.3_Missense_Mutation_p.C1278R|PTPRU_ENST00000428026.2_Missense_Mutation_p.C1275R|PTPRU_ENST00000356870.3_Missense_Mutation_p.C1284R|PTPRU_ENST00000460170.2_Missense_Mutation_p.C1284R	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1288	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGCCCAGCCCTGCCTGCAGTA	0.622																																						dbGAP											0													39.0	35.0	36.0					1																	29649886		2203	4299	6502	-	-	-	SO:0001583	missense	0			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.3862T>C	1.37:g.29649886T>C	ENSP00000334941:p.Cys1288Arg		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.C1288R	ENST00000345512.3	37	c.3862	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	T	18.76	3.693380	0.68386	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07	3.84	3.84	0.44239	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	U	0.000000	T	0.58750	0.2144	H	0.96633	3.855	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;0.998;1.0	D;D;D;D;D	0.91635	0.999;0.951;0.999;0.971;0.993	T	0.72855	-0.4166	9	.	.	.	.	12.2773	0.54744	0.0:0.0:0.0:1.0	.	1275;1284;1278;1284;1288	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	R	1288;1278;1284;1284;1275;1284	ENSP00000334941:C1288R;ENSP00000362884:C1278R;ENSP00000349333:C1284R;ENSP00000314987:C1284R;ENSP00000392332:C1275R;ENSP00000432906:C1284R	.	C	+	1	0	PTPRU	29522473	1.000000	0.71417	0.999000	0.59377	0.914000	0.54420	7.868000	0.87116	1.735000	0.51646	0.379000	0.24179	TGC	PTPRU	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000060656		0.622	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	158	0.00	0	T			29649886	29649886	+1	no_errors	ENST00000345512	ensembl	human	known	69_37n	missense	171	10.88	21	SNP	1.000	C
PTRF	284119	genome.wustl.edu	37	17	40557081	40557081	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:40557081G>A	ENST00000357037.5	-	2	1216	c.797C>T	c.(796-798)aCg>aTg	p.T266M		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		GGTGTGCCGCGTCTTCTCCAG	0.602																																						dbGAP											0													126.0	112.0	117.0					17																	40557081		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.797C>T	17.37:g.40557081G>A	ENSP00000349541:p.Thr266Met			Missense_Mutation	SNP	NULL	p.T266M	ENST00000357037.5	37	c.797	CCDS11425.1	17	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713863	0.89112	.	.	ENSG00000177469	ENST00000357037;ENST00000357684	T	0.70164	-0.46	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.81959	0.4933	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82530	-0.0411	10	0.87932	D	0	-24.1087	20.083	0.97786	0.0:0.0:1.0:0.0	.	248;266	B4DNU9;Q6NZI2	.;PTRF_HUMAN	M	266;221	ENSP00000349541:T266M	ENSP00000349541:T266M	T	-	2	0	PTRF	37810607	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	9.769000	0.98969	2.755000	0.94549	0.544000	0.68410	ACG	PTRF	-	NULL	ENSG00000177469		0.602	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTRF	HGNC	protein_coding	OTTHUMT00000449938.1	365	0.00	0	G	NM_012232		40557081	40557081	-1	no_errors	ENST00000357037	ensembl	human	known	69_37n	missense	498	12.28	70	SNP	1.000	A
RAB11FIP5	26056	genome.wustl.edu	37	2	73316500	73316500	+	Intron	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:73316500C>T	ENST00000258098.6	-	2	672				RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)						cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GCCTGGCTCCCGCCCGGTACC	0.632																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.432-57G>A	2.37:g.73316500C>T			O94939|Q9P0M1	RNA	SNP	-	NULL	ENST00000258098.6	37	NULL	CCDS1923.1	2																																																																																			RAB11FIP5	-	-	ENSG00000135631		0.632	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP5	HGNC	protein_coding	OTTHUMT00000251995.1	155	0.00	0	C	NM_015470		73316500	73316500	-1	no_errors	ENST00000493523	ensembl	human	known	69_37n	rna	167	15.66	31	SNP	0.005	T
RAI2	10742	genome.wustl.edu	37	X	17819745	17819745	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:17819745T>G	ENST00000545871.1	-	3	846	c.386A>C	c.(385-387)cAc>cCc	p.H129P	RAI2_ENST00000331511.1_Missense_Mutation_p.H129P|RAI2_ENST00000451717.1_Missense_Mutation_p.H129P|RAI2_ENST00000415486.3_Missense_Mutation_p.H79P|RAI2_ENST00000360011.1_Missense_Mutation_p.H129P	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	129					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CTGAAAGACGTGCTGCTCCAG	0.632																																						dbGAP											0													64.0	67.0	66.0					X																	17819745		2201	4297	6498	-	-	-	SO:0001583	missense	0			Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.386A>C	X.37:g.17819745T>G	ENSP00000444210:p.His129Pro		B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	SNP	NULL	p.H129P	ENST00000545871.1	37	c.386	CCDS14183.1	X	.	.	.	.	.	.	.	.	.	.	T	14.85	2.658974	0.47467	.	.	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717;ENST00000415486	T;T;T;T;T	0.34859	1.38;1.38;1.38;1.38;1.34	5.63	5.63	0.86233	.	0.063239	0.64402	D	0.000005	T	0.44993	0.1320	N	0.24115	0.695	0.58432	D	0.999998	D;D	0.71674	0.998;0.998	D;D	0.64776	0.929;0.929	T	0.48468	-0.9033	10	0.72032	D	0.01	-19.8783	14.8488	0.70281	0.0:0.0:0.0:1.0	.	79;129	E7EMN4;Q9Y5P3	.;RAI2_HUMAN	P	129;129;129;129;79	ENSP00000333456:H129P;ENSP00000353106:H129P;ENSP00000444210:H129P;ENSP00000401323:H129P;ENSP00000392578:H79P	ENSP00000333456:H129P	H	-	2	0	RAI2	17729666	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.443000	0.80521	1.888000	0.54679	0.486000	0.48141	CAC	RAI2	-	NULL	ENSG00000131831		0.632	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI2	HGNC	protein_coding	OTTHUMT00000055937.1	164	0.60	1	T	NM_021785		17819745	17819745	-1	no_errors	ENST00000331511	ensembl	human	known	69_37n	missense	111	11.20	14	SNP	1.000	G
RALBP1	10928	genome.wustl.edu	37	18	9525818	9525818	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr18:9525818T>C	ENST00000019317.4	+	6	1539	c.1316T>C	c.(1315-1317)cTc>cCc	p.L439P	RALBP1_ENST00000383432.3_Missense_Mutation_p.L439P			Q15311	RBP1_HUMAN	ralA binding protein 1	439	Interacts with RalA.				ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	TTGACAGCCCTCAAAAGAAAA	0.323																																						dbGAP											0													101.0	104.0	103.0					18																	9525818		2203	4300	6503	-	-	-	SO:0001583	missense	0			L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.1316T>C	18.37:g.9525818T>C	ENSP00000019317:p.Leu439Pro		D3DUI0	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L439P	ENST00000019317.4	37	c.1316	CCDS11845.1	18	.	.	.	.	.	.	.	.	.	.	T	22.5	4.296151	0.81025	.	.	ENSG00000017797	ENST00000019317;ENST00000383432	T;T	0.29397	1.57;1.57	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.56352	0.1979	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61821	-0.6984	10	0.87932	D	0	-2.7872	15.1982	0.73112	0.0:0.0:0.0:1.0	.	439	Q15311	RBP1_HUMAN	P	439	ENSP00000019317:L439P;ENSP00000372924:L439P	ENSP00000019317:L439P	L	+	2	0	RALBP1	9515818	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.046000	0.60703	0.533000	0.62120	CTC	RALBP1	-	NULL	ENSG00000017797		0.323	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALBP1	HGNC	protein_coding	OTTHUMT00000254479.1	74	0.00	0	T	NM_006788		9525818	9525818	+1	no_errors	ENST00000019317	ensembl	human	known	69_37n	missense	59	15.71	11	SNP	1.000	C
RALGAPA2	57186	genome.wustl.edu	37	20	20493470	20493470	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:20493470C>T	ENST00000202677.7	-	32	4550	c.4543G>A	c.(4543-4545)Gag>Aag	p.E1515K		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1515					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TCATCCCCCTCCTCAACTTGA	0.433																																						dbGAP											0													121.0	117.0	118.0					20																	20493470		1942	4149	6091	-	-	-	SO:0001583	missense	0			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.4543G>A	20.37:g.20493470C>T	ENSP00000202677:p.Glu1515Lys		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.E1515K	ENST00000202677.7	37	c.4543	CCDS46584.1	20	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090653	0.55968	.	.	ENSG00000188559	ENST00000202677	D	0.94828	-3.53	6.11	4.15	0.48705	.	0.242242	0.41097	N	0.000955	D	0.92024	0.7473	M	0.69248	2.105	0.37323	D	0.909646	B;B;B	0.31209	0.002;0.313;0.004	B;B;B	0.28709	0.004;0.093;0.005	D	0.89871	0.4023	9	.	.	.	.	11.2499	0.49020	0.1284:0.8061:0.0:0.0654	.	1353;1515;1515	A8MSM5;Q2PPJ7-2;Q2PPJ7	.;.;RGPA2_HUMAN	K	1515	ENSP00000202677:E1515K	.	E	-	1	0	RALGAPA2	20441470	1.000000	0.71417	0.998000	0.56505	0.840000	0.47671	4.575000	0.60908	0.876000	0.35872	0.655000	0.94253	GAG	RALGAPA2	-	NULL	ENSG00000188559		0.433	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	HGNC	protein_coding	OTTHUMT00000471941.1	186	0.00	0	C	NM_020343		20493470	20493470	-1	no_errors	ENST00000202677	ensembl	human	known	69_37n	missense	51	19.05	12	SNP	1.000	T
RALGAPA2	57186	genome.wustl.edu	37	20	20620529	20620530	+	Frame_Shift_Ins	INS	-	-	A	rs61761203	byFrequency	TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:20620529_20620530insA	ENST00000202677.7	-	7	572_573	c.565_566insT	c.(565-567)gaafs	p.E189fs		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	189					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AGTGATTTCTTCTGGATATATC	0.347																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.565_566insT	20.37:g.20620529_20620530insA	ENSP00000202677:p.Glu189fs		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Frame_Shift_Ins	INS	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.E189fs	ENST00000202677.7	37	c.566_565	CCDS46584.1	20																																																																																			RALGAPA2	-	NULL	ENSG00000188559		0.347	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	HGNC	protein_coding	OTTHUMT00000471941.1	59	0.00	0	-	NM_020343		20620529	20620530	-1	no_errors	ENST00000202677	ensembl	human	known	69_37n	frame_shift_ins	21	12.50	3	INS	1.000:1.000	A
RALGPS1	9649	genome.wustl.edu	37	9	129957410	129957410	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:129957410G>A	ENST00000259351.5	+	12	1218	c.951G>A	c.(949-951)agG>agA	p.R317R	RALGPS1_ENST00000424082.2_Silent_p.R317R|RALGPS1_ENST00000373434.1_Silent_p.R317R	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	317					intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TCAGCCGGAGGCCCACCTGTC	0.617																																						dbGAP											0													108.0	96.0	100.0					9																	129957410		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.951G>A	9.37:g.129957410G>A			B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Silent	SNP	pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.R317	ENST00000259351.5	37	c.951	CCDS35143.1	9																																																																																			RALGPS1	-	NULL	ENSG00000136828		0.617	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS1	HGNC	protein_coding	OTTHUMT00000054133.1	167	0.00	0	G	NM_014636		129957410	129957410	+1	no_errors	ENST00000259351	ensembl	human	known	69_37n	silent	165	11.17	21	SNP	1.000	A
RBM10	8241	genome.wustl.edu	37	X	47041645	47041645	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:47041645G>A	ENST00000377604.3	+	17	2612	c.1870G>A	c.(1870-1872)Gac>Aac	p.D624N	RBM10_ENST00000329236.7_Missense_Mutation_p.D546N|RBM10_ENST00000345781.6_Missense_Mutation_p.D547N	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	624					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GCAGTCGGCCGACGGACATAA	0.577																																					Melanoma(171;120 2705 19495 39241)	dbGAP											0													103.0	94.0	97.0					X																	47041645		2203	4299	6502	-	-	-	SO:0001583	missense	0			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.1870G>A	X.37:g.47041645G>A	ENSP00000366829:p.Asp624Asn		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.D624N	ENST00000377604.3	37	c.1870	CCDS14274.1	X	.	.	.	.	.	.	.	.	.	.	G	9.664	1.144954	0.21288	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.19532	2.83;2.14;2.4	4.85	4.85	0.62838	.	0.320542	0.29838	N	0.011063	T	0.33818	0.0876	L	0.42245	1.32	0.09310	N	0.999997	D;B;P;D;B	0.89917	0.972;0.236;0.5;1.0;0.125	B;B;B;D;B	0.83275	0.425;0.053;0.115;0.996;0.034	T	0.11421	-1.0588	10	0.22109	T	0.4	-21.1162	10.6923	0.45877	0.0:0.1894:0.8106:0.0	.	547;689;623;546;624	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	N	624;546;547	ENSP00000366829:D624N;ENSP00000328848:D546N;ENSP00000329659:D547N	ENSP00000328848:D546N	D	+	1	0	RBM10	46926589	0.561000	0.26578	0.522000	0.27862	0.569000	0.35902	2.390000	0.44416	2.137000	0.66172	0.436000	0.28706	GAC	RBM10	-	NULL	ENSG00000182872		0.577	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	HGNC	protein_coding	OTTHUMT00000056381.1	364	0.00	0	G	NM_005676		47041645	47041645	+1	no_errors	ENST00000377604	ensembl	human	known	69_37n	missense	449	14.29	75	SNP	0.036	A
RBM25	58517	genome.wustl.edu	37	14	73569925	73569926	+	Frame_Shift_Ins	INS	-	-	CG			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:73569925_73569926insCG	ENST00000261973.7	+	10	1178_1179	c.893_894insCG	c.(892-897)aaggaafs	p.KE298fs	RBM25_ENST00000527432.1_Frame_Shift_Ins_p.KE298fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	298	Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		aaaggcaaaaaggaaaaagaaa	0.436																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	Exception_encountered	14.37:g.73569925_73569926insCG	ENSP00000261973:p.Lys298fs		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Frame_Shift_Ins	INS	pfam_PWI,pfam_RRM_dom,superfamily_PWI,smart_RRM_dom,smart_PWI,pfscan_RRM_dom	p.K298fs	ENST00000261973.7	37	c.893_894	CCDS32113.1	14																																																																																			RBM25	-	NULL	ENSG00000119707		0.436	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM25	HGNC	protein_coding	OTTHUMT00000394966.1	103	0.00	0	-	XM_027330		73569925	73569926	+1	no_errors	ENST00000261973	ensembl	human	known	69_37n	frame_shift_ins	58	15.94	11	INS	1.000:1.000	CG
RBM27	54439	genome.wustl.edu	37	5	145598565	145598565	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:145598565C>T	ENST00000265271.5	+	2	243	c.77C>T	c.(76-78)tCa>tTa	p.S26L	RBM27_ENST00000506502.1_Missense_Mutation_p.S26L	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	26					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGATCCTTCAGCCTTAGCC	0.323																																						dbGAP											0													135.0	122.0	126.0					5																	145598565		1568	3582	5150	-	-	-	SO:0001583	missense	0			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.77C>T	5.37:g.145598565C>T	ENSP00000265271:p.Ser26Leu		Q8IYW9	Missense_Mutation	SNP	pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.S26L	ENST00000265271.5	37	c.77	CCDS43378.1	5	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789756	0.70337	.	.	ENSG00000091009	ENST00000265271	T	0.42900	0.96	5.69	5.69	0.88448	Splicing factor PWI (2);	0.217157	0.33235	N	0.005128	T	0.45438	0.1342	M	0.76002	2.32	0.58432	D	0.999998	P;B	0.39216	0.664;0.088	B;B	0.37888	0.26;0.149	T	0.50136	-0.8863	10	0.56958	D	0.05	-14.9983	13.0713	0.59064	0.0:0.9268:0.0:0.0731	.	26;26	Q9P2N5;B3KY61	RBM27_HUMAN;.	L	26	ENSP00000265271:S26L	ENSP00000265271:S26L	S	+	2	0	RBM27	145578758	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.055000	0.71103	2.683000	0.91414	0.655000	0.94253	TCA	RBM27	-	pfam_PWI	ENSG00000091009		0.323	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	116	0.85	1	C	XM_291128		145598565	145598565	+1	no_errors	ENST00000265271	ensembl	human	known	69_37n	missense	30	42.31	22	SNP	1.000	T
RBM27	54439	genome.wustl.edu	37	5	145641354	145641354	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:145641354C>T	ENST00000265271.5	+	13	2341	c.2175C>T	c.(2173-2175)caC>caT	p.H725H	RBM27_ENST00000506502.1_Silent_p.H670H	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	725					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.H725H(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAACAGTGCACGGAGGTATCC	0.478																																						dbGAP											1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											61.0	54.0	56.0					5																	145641354		1568	3582	5150	-	-	-	SO:0001819	synonymous_variant	0			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2175C>T	5.37:g.145641354C>T			Q8IYW9	Silent	SNP	pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.H725	ENST00000265271.5	37	c.2175	CCDS43378.1	5																																																																																			RBM27	-	NULL	ENSG00000091009		0.478	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	85	0.00	0	C	XM_291128		145641354	145641354	+1	no_errors	ENST00000265271	ensembl	human	known	69_37n	silent	43	33.85	22	SNP	0.843	T
RBMXL3	139804	genome.wustl.edu	37	X	114425072	114425072	+	Silent	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:114425072C>A	ENST00000424776.3	+	1	1110	c.1068C>A	c.(1066-1068)gcC>gcA	p.A356A	LRCH2_ENST00000317135.8_Intron|LRCH2_ENST00000538422.1_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	356							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						TGCCAGACGCCTACAGCAGGG	0.627																																						dbGAP											0													21.0	22.0	22.0					X																	114425072		691	1591	2282	-	-	-	SO:0001819	synonymous_variant	0			AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.1068C>A	X.37:g.114425072C>A			B4DXC0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A356	ENST00000424776.3	37	c.1068	CCDS55478.1	X																																																																																			RBMXL3	-	NULL	ENSG00000175718		0.627	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL3	HGNC	protein_coding	OTTHUMT00000057968.3	22	0.00	0	C	NM_001145346		114425072	114425072	+1	no_errors	ENST00000424776	ensembl	human	known	69_37n	silent	32	13.51	5	SNP	0.923	A
RCC1	1104	genome.wustl.edu	37	1	28858719	28858719	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:28858719G>T	ENST00000373833.6	+	7	583	c.298G>T	c.(298-300)Gga>Tga	p.G100*	RCC1_ENST00000373831.3_Nonsense_Mutation_p.G131*|RCC1_ENST00000373832.1_Nonsense_Mutation_p.G100*|RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000398958.2_Nonsense_Mutation_p.G100*			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	100					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTGCCCTGGGAAGGGACAC	0.572																																						dbGAP											0													81.0	65.0	71.0					1																	28858719		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.298G>T	1.37:g.28858719G>T	ENSP00000362939:p.Gly100*		Q16269|Q6NT97	Nonsense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.G131*	ENST00000373833.6	37	c.391	CCDS323.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.815228	0.98504	.	.	ENSG00000180198	ENST00000398958;ENST00000427469;ENST00000434290;ENST00000373833;ENST00000419074;ENST00000373832;ENST00000373831;ENST00000411533;ENST00000430407	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.6869	18.0766	0.89428	0.0:0.0:1.0:0.0	.	.	.	.	X	100;100;108;100;100;100;131;117;100	.	ENSP00000362937:G131X	G	+	1	0	RCC1	28731306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.824000	0.99380	2.607000	0.88179	0.650000	0.86243	GGA	RCC1	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	ENSG00000180198		0.572	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RCC1	HGNC	protein_coding	OTTHUMT00000010323.3	227	0.00	0	G	NM_001269		28858719	28858719	+1	no_errors	ENST00000373831	ensembl	human	known	69_37n	nonsense	319	15.61	59	SNP	1.000	T
IPO4	79711	genome.wustl.edu	37	14	24648665	24648665	+	IGR	SNP	C	C	T	rs561304496		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:24648665C>T	ENST00000354464.6	-	0	3646				REC8_ENST00000559919.1_Missense_Mutation_p.R438W|REC8_ENST00000559939.1_3'UTR|REC8_ENST00000311457.3_Missense_Mutation_p.R438W	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4						DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		ACCAGAAGAACGGTGGTAAGC	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19142	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													74.0	81.0	79.0					14																	24648665		2017	4166	6183	-	-	-	SO:0001628	intergenic_variant	0			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801		14.37:g.24648665C>T			B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu	p.R438W	ENST00000354464.6	37	c.1312	CCDS9616.1	14	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905638	0.72868	.	.	ENSG00000100918	ENST00000311457;ENST00000447460	T	0.29397	1.57	5.58	3.54	0.40534	.	0.072136	0.51477	N	0.000093	T	0.22205	0.0535	L	0.36672	1.1	0.31480	N	0.667294	B;B	0.24132	0.098;0.059	B;B	0.18871	0.023;0.01	T	0.17077	-1.0381	10	0.56958	D	0.05	-13.1234	8.2632	0.31797	0.1641:0.7468:0.0:0.0891	.	422;439	O95072-2;O95072	.;REC8_HUMAN	W	438;421	ENSP00000308699:R438W	ENSP00000308699:R438W	R	+	1	2	REC8	23718505	0.890000	0.30428	0.998000	0.56505	0.978000	0.69477	-0.074000	0.11450	1.339000	0.45563	0.456000	0.33151	CGG	REC8	-	NULL	ENSG00000100918		0.612	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REC8	HGNC	protein_coding	OTTHUMT00000071931.4	56	0.00	0	C	NM_024658		24648665	24648665	+1	no_errors	ENST00000311457	ensembl	human	known	69_37n	missense	52	37.35	31	SNP	0.997	T
IPO4	79711	genome.wustl.edu	37	14	24649135	24649135	+	IGR	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:24649135G>A	ENST00000354464.6	-	0	3646				REC8_ENST00000559919.1_Intron|REC8_ENST00000559939.1_Intron|REC8_ENST00000311457.3_Intron	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4						DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		ATGTGTGTGTGTGTATGTGGG	0.627																																						dbGAP											0													57.0	64.0	62.0					14																	24649135		1981	4148	6129	-	-	-	SO:0001628	intergenic_variant	0			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801		14.37:g.24649135G>A			B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	NULL	p.V228M	ENST00000354464.6	37	c.682	CCDS9616.1	14																																																																																			REC8	-	NULL	ENSG00000100918		0.627	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REC8	HGNC	protein_coding	OTTHUMT00000071931.4	75	0.00	0	G	NM_024658		24649135	24649135	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000559797	ensembl	human	known	69_37n	missense	85	15.00	15	SNP	0.000	A
REPIN1	29803	genome.wustl.edu	37	7	150068459	150068459	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:150068459G>A	ENST00000425389.2	+	1	207	c.129G>A	c.(127-129)acG>acA	p.T43T	REPIN1_ENST00000397281.2_Silent_p.T43T|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000540729.1_Silent_p.T43T|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000518462.1_3'UTR|REPIN1_ENST00000444957.1_Silent_p.T43T|REPIN1_ENST00000489432.2_Silent_p.T100T|REPIN1_ENST00000482680.1_3'UTR|REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000518514.1_Missense_Mutation_p.V92I	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	43					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			AACAAGGCACGTCAGTGGCCC	0.687																																						dbGAP											0													10.0	12.0	11.0					7																	150068459		1959	4140	6099	-	-	-	SO:0001819	synonymous_variant	0			AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.129G>A	7.37:g.150068459G>A			C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	NULL	p.V92I	ENST00000425389.2	37	c.274	CCDS43677.1	7	.	.	.	.	.	.	.	.	.	.	G	2.105	-0.405082	0.04832	.	.	ENSG00000214022	ENST00000518514	.	.	.	4.81	-9.62	0.00547	.	.	.	.	.	T	0.28466	0.0704	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.41875	-0.9484	5	0.87932	D	0	-0.2313	2.6376	0.04962	0.216:0.407:0.2154:0.1616	.	.	.	.	I	92	.	ENSP00000428129:V92I	V	+	1	0	REPIN1	149699392	0.000000	0.05858	0.000000	0.03702	0.306000	0.27790	-0.899000	0.04101	-2.649000	0.00425	-1.516000	0.00938	GTC	REPIN1	-	NULL	ENSG00000214022		0.687	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	REPIN1	HGNC	protein_coding	OTTHUMT00000376940.1	25	0.00	0	G	NM_014374		150068459	150068459	+1	no_errors	ENST00000518514	ensembl	human	putative	69_37n	missense	31	13.89	5	SNP	0.000	A
RFX1	5989	genome.wustl.edu	37	19	14074749	14074749	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:14074749G>A	ENST00000254325.4	-	17	2516	c.2282C>T	c.(2281-2283)gCg>gTg	p.A761V		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	761	Necessary for dimerization.				immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CACAGCGCGCGCCGCCTGCGC	0.697																																						dbGAP											0													30.0	17.0	21.0					19																	14074749		2119	4130	6249	-	-	-	SO:0001583	missense	0				CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.2282C>T	19.37:g.14074749G>A	ENSP00000254325:p.Ala761Val			Missense_Mutation	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.A761V	ENST00000254325.4	37	c.2282	CCDS12301.1	19	.	.	.	.	.	.	.	.	.	.	g	26.1	4.709398	0.89018	.	.	ENSG00000132005	ENST00000254325	T	0.49139	0.79	4.86	3.79	0.43588	.	0.050844	0.85682	D	0.000000	T	0.48295	0.1492	M	0.77406	2.37	0.80722	D	1	P	0.46987	0.888	B	0.38264	0.269	T	0.59789	-0.7388	10	0.62326	D	0.03	-35.7931	14.0163	0.64525	0.0:0.1531:0.8469:0.0	.	761	P22670	RFX1_HUMAN	V	761	ENSP00000254325:A761V	ENSP00000254325:A761V	A	-	2	0	RFX1	13935749	1.000000	0.71417	0.985000	0.45067	0.949000	0.60115	9.556000	0.98127	1.250000	0.43966	0.543000	0.68304	GCG	RFX1	-	NULL	ENSG00000132005		0.697	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX1	HGNC	protein_coding	OTTHUMT00000458510.1	86	0.00	0	G	NM_002918		14074749	14074749	-1	no_errors	ENST00000254325	ensembl	human	known	69_37n	missense	102	28.17	40	SNP	1.000	A
RGAG1	57529	genome.wustl.edu	37	X	109696855	109696855	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:109696855T>G	ENST00000465301.2	+	3	3256	c.3010T>G	c.(3010-3012)Tca>Gca	p.S1004A	RGAG1_ENST00000540313.1_Missense_Mutation_p.S1004A	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1004										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TATGTCCTTGTCACAAACAAC	0.493																																						dbGAP											0													245.0	211.0	222.0					X																	109696855		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3010T>G	X.37:g.109696855T>G	ENSP00000419786:p.Ser1004Ala		Q9P2M8	Missense_Mutation	SNP	NULL	p.S1004A	ENST00000465301.2	37	c.3010	CCDS14552.1	X	.	.	.	.	.	.	.	.	.	.	C	3.864	-0.029223	0.07589	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.44482	0.92;0.92	4.04	4.04	0.47022	.	.	.	.	.	T	0.20901	0.0503	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.21827	-1.0234	8	.	.	.	-12.3446	6.8871	0.24208	0.0:0.8733:0.0:0.1267	.	1004	Q8NET4	RGAG1_HUMAN	A	1004;1004;565	ENSP00000419786:S1004A;ENSP00000441452:S1004A	.	S	+	1	0	RGAG1	109583511	0.431000	0.25546	0.119000	0.21687	0.016000	0.09150	0.756000	0.26419	1.058000	0.40530	-0.170000	0.13304	TCA	RGAG1	-	NULL	ENSG00000243978		0.493	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	HGNC	protein_coding	OTTHUMT00000057906.2	224	0.00	0	T	NM_020769		109696855	109696855	+1	no_errors	ENST00000465301	ensembl	human	known	69_37n	missense	135	16.15	26	SNP	0.099	G
RGS11	8786	genome.wustl.edu	37	16	321297	321297	+	Missense_Mutation	SNP	C	C	T	rs564581589		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:321297C>T	ENST00000397770.3	-	12	784	c.767G>A	c.(766-768)gGc>gAc	p.G256D	ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Missense_Mutation_p.G235D|RGS11_ENST00000359740.5_Missense_Mutation_p.G245D			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	256	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TCCACGCTGGCCGCAGAAACT	0.647																																						dbGAP											0													28.0	33.0	31.0					16																	321297		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344		"""Regulators of G-protein signaling"""	9993	protein-coding gene	gene with protein product		603895	"""regulator of G-protein signalling 11"""			9789084	Standard	NM_001286486		Approved		uc002cgj.1	O94810	OTTHUMG00000064893	ENST00000397770.3:c.767G>A	16.37:g.321297C>T	ENSP00000380876:p.Gly256Asp		O75883|Q4TT71|Q4TT72	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.G256D	ENST00000397770.3	37	c.767	CCDS42088.1	16	.	.	.	.	.	.	.	.	.	.	C	5.993	0.367215	0.11352	.	.	ENSG00000076344	ENST00000397770;ENST00000316163;ENST00000359740	T;T;T	0.20738	2.05;2.05;2.05	4.91	0.0956	0.14486	G-protein gamma domain (4);	0.855758	0.10468	N	0.671191	T	0.06735	0.0172	N	0.01048	-1.04	0.37846	D	0.929225	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.14117	-1.0484	10	0.52906	T	0.07	-16.9615	7.0051	0.24831	0.0:0.3352:0.0:0.6648	.	245;256;256	O94810-2;Q4TT70;O94810	.;.;RGS11_HUMAN	D	256;235;245	ENSP00000380876:G256D;ENSP00000319069:G235D;ENSP00000352778:G245D	ENSP00000319069:G235D	G	-	2	0	RGS11	261298	0.498000	0.26075	0.147000	0.22382	0.019000	0.09904	0.567000	0.23608	0.135000	0.18707	-0.680000	0.03767	GGC	RGS11	-	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom	ENSG00000076344		0.647	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS11	HGNC	protein_coding	OTTHUMT00000139325.2	41	0.00	0	C			321297	321297	-1	no_errors	ENST00000397770	ensembl	human	known	69_37n	missense	89	11.88	12	SNP	0.660	T
RHOD	29984	genome.wustl.edu	37	11	66838015	66838015	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:66838015T>C	ENST00000308831.2	+	4	535	c.450T>C	c.(448-450)ccT>ccC	p.P150P	RHOD_ENST00000532559.1_Silent_p.P84P	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D	150					actin filament bundle assembly (GO:0051017)|focal adhesion assembly (GO:0048041)|GTP catabolic process (GO:0006184)|lamellipodium assembly (GO:0030032)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(3)	3						GATTGGAGCCTGTGACCTACC	0.562																																						dbGAP											0													91.0	81.0	85.0					11																	66838015		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			D85815	CCDS8155.1, CCDS73330.1	11q14.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000173156	ENSG00000173156			670	protein-coding gene	gene with protein product	"""Rho-related protein HP1"", ""Rho-related GTP-binding protein RhoD"""	605781	"""ras homolog gene family, member D"""	ARHD		9116026	Standard	NM_014578		Approved	RhoHP1, RhoD, Rho	uc001ojv.3	O00212	OTTHUMG00000167102	ENST00000308831.2:c.450T>C	11.37:g.66838015T>C				Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.P150	ENST00000308831.2	37	c.450	CCDS8155.1	11																																																																																			RHOD	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000173156		0.562	RHOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOD	HGNC	protein_coding	OTTHUMT00000393136.1	113	0.00	0	T	NM_014578		66838015	66838015	+1	no_errors	ENST00000308831	ensembl	human	known	69_37n	silent	131	14.94	23	SNP	0.090	C
RIPK2	8767	genome.wustl.edu	37	8	90782026	90782026	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:90782026G>T	ENST00000220751.4	+	4	824	c.510G>T	c.(508-510)tgG>tgT	p.W170C	RIPK2_ENST00000540020.1_Missense_Mutation_p.W33C	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	170	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TATCAAAGTGGCGCATGATGT	0.368																																						dbGAP											0													154.0	159.0	157.0					8																	90782026		2203	4299	6502	-	-	-	SO:0001583	missense	0			AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.510G>T	8.37:g.90782026G>T	ENSP00000220751:p.Trp170Cys		B7Z748|Q6UWF0	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CARD,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rcpt-int_Ser/Thr_kinase-2,pfscan_CARD,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.W170C	ENST00000220751.4	37	c.510	CCDS6247.1	8	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101290	0.76983	.	.	ENSG00000104312	ENST00000220751;ENST00000540020	T;T	0.64438	-0.1;-0.1	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40302	N	0.001139	T	0.71719	0.3373	L	0.31845	0.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68812	-0.5310	10	0.37606	T	0.19	-7.144	19.3887	0.94570	0.0:0.0:1.0:0.0	.	170	O43353	RIPK2_HUMAN	C	170;33	ENSP00000220751:W170C;ENSP00000441623:W33C	ENSP00000220751:W170C	W	+	3	0	RIPK2	90851163	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.350000	0.97070	2.826000	0.97356	0.655000	0.94253	TGG	RIPK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rcpt-int_Ser/Thr_kinase-2,pfscan_Prot_kinase_cat_dom	ENSG00000104312		0.368	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK2	HGNC	protein_coding	OTTHUMT00000375686.1	125	0.00	0	G			90782026	90782026	+1	no_errors	ENST00000220751	ensembl	human	known	69_37n	missense	54	10.00	6	SNP	1.000	T
RNF112	7732	genome.wustl.edu	37	17	19315830	19315830	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:19315830A>C	ENST00000461366.1	+	3	330	c.115A>C	c.(115-117)Aag>Cag	p.K39Q	RNF112_ENST00000580109.1_3'UTR|CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	39						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						ACCTTTCCCCAAGTTGGAGCT	0.632																																						dbGAP											0													48.0	47.0	47.0					17																	19315830		1909	4104	6013	-	-	-	SO:0001583	missense	0			AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"""RING-type (C3HC4) zinc fingers"""	12968	protein-coding gene	gene with protein product		601237	"""zinc finger protein 179"""	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.115A>C	17.37:g.19315830A>C	ENSP00000454919:p.Lys39Gln		O60633|Q7Z5V9	Missense_Mutation	SNP	pfam_Guanylate-bd_N,smart_Znf_RING,pfscan_Znf_RING	p.K39Q	ENST00000461366.1	37	c.115	CCDS58529.1	17																																																																																			RNF112	-	NULL	ENSG00000128482		0.632	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	RNF112	HGNC	protein_coding	OTTHUMT00000132549.4	117	0.00	0	A	NM_007148		19315830	19315830	+1	no_errors	ENST00000461366	ensembl	human	novel	69_37n	missense	161	14.74	28	SNP	0.614	C
RNF19A	25897	genome.wustl.edu	37	8	101276385	101276385	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:101276385C>T	ENST00000519449.1	-	8	1661	c.1345G>A	c.(1345-1347)Gta>Ata	p.V449I	RNF19A_ENST00000523255.1_Intron|RNF19A_ENST00000341084.2_Missense_Mutation_p.V449I	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	449					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.V449I(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			ATTGGAACTACGCCATAGACA	0.353																																						dbGAP											1	Substitution - Missense(1)	lung(1)											87.0	82.0	84.0					8																	101276385		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1345G>A	8.37:g.101276385C>T	ENSP00000428968:p.Val449Ile		A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.V449I	ENST00000519449.1	37	c.1345	CCDS6286.1	8	.	.	.	.	.	.	.	.	.	.	C	34	5.304565	0.95601	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.87412	-2.25;-2.25	5.5	5.5	0.81552	.	0.054247	0.64402	D	0.000001	D	0.93828	0.8026	M	0.80332	2.49	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.94025	0.7296	10	0.72032	D	0.01	.	19.3658	0.94461	0.0:1.0:0.0:0.0	.	449	Q9NV58	RN19A_HUMAN	I	449	ENSP00000428968:V449I;ENSP00000342667:V449I	ENSP00000342667:V449I	V	-	1	0	RNF19A	101345561	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.776000	0.85560	2.737000	0.93849	0.563000	0.77884	GTA	RNF19A	-	NULL	ENSG00000034677		0.353	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF19A	HGNC	protein_coding	OTTHUMT00000380004.1	204	0.00	0	C	NM_015435		101276385	101276385	-1	no_errors	ENST00000341084	ensembl	human	known	69_37n	missense	63	17.11	13	SNP	1.000	T
RNF207	388591	genome.wustl.edu	37	1	6267486	6267486	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:6267486G>A	ENST00000377939.4	+	3	366	c.239G>A	c.(238-240)cGg>cAg	p.R80Q	RNF207_ENST00000377948.2_5'UTR|RP1-120G22.11_ENST00000455744.1_RNA	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	80						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CCGGTGGACCGGCTGCTGCAG	0.692																																						dbGAP											0													12.0	17.0	15.0					1																	6267486		2177	4242	6419	-	-	-	SO:0001583	missense	0			AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"""RING-type (C3HC4) zinc fingers"""	32947	protein-coding gene	gene with protein product	"""OTTHUMG00000001089"""		"""chromosome 1 open reading frame 188"""	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.239G>A	1.37:g.6267486G>A	ENSP00000367173:p.Arg80Gln		A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Missense_Mutation	SNP	pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING	p.R80Q	ENST00000377939.4	37	c.239	CCDS59.2	1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.304067	0.60305	.	.	ENSG00000158286	ENST00000377939	T	0.18174	2.23	4.48	4.48	0.54585	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.48767	U	0.000180	T	0.28830	0.0715	L	0.39245	1.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67900	0.92;0.954	T	0.01367	-1.1373	10	0.27785	T	0.31	-14.2895	12.9928	0.58630	0.0:0.0:0.8379:0.1621	.	80;80	Q6ZRF8;Q6ZRF8-2	RN207_HUMAN;.	Q	80	ENSP00000367173:R80Q	ENSP00000367173:R80Q	R	+	2	0	RNF207	6190073	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	3.269000	0.51592	2.043000	0.60533	0.462000	0.41574	CGG	RNF207	-	NULL	ENSG00000158286		0.692	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RNF207	HGNC	protein_coding	OTTHUMT00000003669.2	57	0.00	0	G	NM_207396		6267486	6267486	+1	no_errors	ENST00000377939	ensembl	human	novel	69_37n	missense	77	11.49	10	SNP	1.000	A
RNF213	57674	genome.wustl.edu	37	17	78320640	78320640	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:78320640G>A	ENST00000582970.1	+	29	8648	c.8505G>A	c.(8503-8505)caG>caA	p.Q2835Q	RNF213_ENST00000508628.2_Silent_p.Q2884Q|RNF213_ENST00000336301.6_Silent_p.Q908Q	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2835					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGACCTGCAGCAGTACGTCT	0.617																																						dbGAP											0													61.0	56.0	58.0					17																	78320640		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8505G>A	17.37:g.78320640G>A			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.Q2835	ENST00000582970.1	37	c.8505	CCDS58606.1	17																																																																																			RNF213	-	smart_AAA+_ATPase	ENSG00000173821		0.617	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	115	0.00	0	G	NM_020914		78320640	78320640	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	silent	124	11.35	16	SNP	0.015	A
RP1	6101	genome.wustl.edu	37	8	55539012	55539012	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:55539012C>A	ENST00000220676.1	+	4	2718	c.2570C>A	c.(2569-2571)tCa>tAa	p.S857*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	857					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGTTTAGTTTCAAAAGTTACT	0.363																																					Colon(91;1014 1389 7634 14542 40420)	dbGAP											0													41.0	43.0	43.0					8																	55539012		2201	4299	6500	-	-	-	SO:0001587	stop_gained	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2570C>A	8.37:g.55539012C>A	ENSP00000220676:p.Ser857*			Nonsense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.S857*	ENST00000220676.1	37	c.2570	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	C	40	8.291374	0.98745	.	.	ENSG00000104237	ENST00000220676	.	.	.	5.54	5.54	0.83059	.	0.169822	0.28989	N	0.013489	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.4188	0.90582	0.0:1.0:0.0:0.0	.	.	.	.	X	857	.	ENSP00000220676:S857X	S	+	2	0	RP1	55701565	0.174000	0.23070	0.998000	0.56505	0.906000	0.53458	0.050000	0.14120	2.633000	0.89246	0.644000	0.83932	TCA	RP1	-	NULL	ENSG00000104237		0.363	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	20	0.00	0	C	NM_006269		55539012	55539012	+1	no_errors	ENST00000220676	ensembl	human	known	69_37n	nonsense	31	18.42	7	SNP	1.000	A
RPL31	6160	genome.wustl.edu	37	2	101622441	101622441	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:101622441G>A	ENST00000264258.3	+	4	855	c.254G>A	c.(253-255)cGt>cAt	p.R85H	RPL31_ENST00000409733.1_Missense_Mutation_p.R85H|RPL31_ENST00000409711.1_3'UTR|RPL31_ENST00000409650.1_Missense_Mutation_p.R85H|RPL31_ENST00000409028.4_Missense_Mutation_p.R85H|RPL31_ENST00000409038.1_Missense_Mutation_p.R85H|RPL31_ENST00000409320.3_Missense_Mutation_p.R85H	NM_000993.4	NP_000984.1	P62899	RL31_HUMAN	ribosomal protein L31	85					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						TACCGAATCCGTGTGCGGCTG	0.393																																						dbGAP											0													64.0	62.0	63.0					2																	101622441		2203	4300	6503	-	-	-	SO:0001583	missense	0			X15940	CCDS2049.1, CCDS46373.1, CCDS46374.1	2q11.2	2011-04-06			ENSG00000071082	ENSG00000071082		"""L ribosomal proteins"""	10334	protein-coding gene	gene with protein product						2780320, 11875025	Standard	NM_000993		Approved	L31	uc010fiu.1	P62899	OTTHUMG00000130687	ENST00000264258.3:c.254G>A	2.37:g.101622441G>A	ENSP00000264258:p.Arg85His		B7Z4K2|D3DVJ4|P12947|Q53SQ5|Q6IRZ0|Q6LBJ6	Missense_Mutation	SNP	pfam_Ribosomal_L31e,superfamily_Ribosomal_L31e_dom	p.R85H	ENST00000264258.3	37	c.254	CCDS2049.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.13|16.13	3.035117|3.035117	0.54896|0.54896	.|.	.|.	ENSG00000071082|ENSG00000071082	ENST00000264258;ENST00000409028;ENST00000409320;ENST00000409733;ENST00000409650;ENST00000409038;ENST00000456292|ENST00000441435	.|.	.|.	.|.	5.14|5.14	4.27|4.27	0.50696|0.50696	Ribosomal protein L31e domain (2);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.70945|0.70945	0.3282|0.3282	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	B;D;B;B;B|.	0.89917|.	0.021;1.0;0.086;0.036;0.003|.	B;D;B;B;B|.	0.87578|.	0.033;0.998;0.043;0.026;0.024|.	T|T	0.71066|0.71066	-0.4700|-0.4700	9|5	0.38643|.	T|.	0.18|.	.|.	13.926|13.926	0.63964|0.63964	0.073:0.0:0.927:0.0|0.073:0.0:0.927:0.0	.|.	85;85;85;85;85|.	B7Z4E3;B7Z4C8;B7Z4K2;Q6IRZ0;P62899|.	.;.;.;.;RL31_HUMAN|.	H|M	85|73	.|.	ENSP00000264258:R85H|.	R|V	+|+	2|1	0|0	RPL31|RPL31	100988873|100988873	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.930000|0.930000	0.56654|0.56654	9.448000|9.448000	0.97600|0.97600	1.392000|1.392000	0.46585|0.46585	0.563000|0.563000	0.77884|0.77884	CGT|GTG	RPL31	-	pfam_Ribosomal_L31e,superfamily_Ribosomal_L31e_dom	ENSG00000071082		0.393	RPL31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPL31	HGNC	protein_coding	OTTHUMT00000253182.3	186	0.00	0	G	NM_001098577		101622441	101622441	+1	no_errors	ENST00000264258	ensembl	human	known	69_37n	missense	202	16.53	40	SNP	1.000	A
RPLP0P2	113157	genome.wustl.edu	37	11	61404252	61404252	+	RNA	SNP	A	A	G	rs55977967		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:61404252A>G	ENST00000496593.1	+	0	856					NR_002775.2				ribosomal protein, large, P0 pseudogene 2																		GGAGCAGACAATGTGAACTCC	0.537																																						dbGAP											0																																										-	-	-			0			BC010523		11q12.2	2014-08-07			ENSG00000243742	ENSG00000243742		"""L ribosomal proteins"""	17960	pseudogene	pseudogene						19123937, 25089627	Standard	NR_002775		Approved		uc001nrz.1		OTTHUMG00000158396		11.37:g.61404252A>G				RNA	SNP	-	NULL	ENST00000496593.1	37	NULL		11																																																																																			RPLP0P2	-	-	ENSG00000243742		0.537	RPLP0P2-002	KNOWN	basic	processed_transcript	RPLP0P2	HGNC	pseudogene	OTTHUMT00000350911.1	111	0.00	0	A	NR_002775		61404252	61404252	+1	no_errors	ENST00000496593	ensembl	human	known	69_37n	rna	65	14.47	11	SNP	1.000	G
RPTOR	57521	genome.wustl.edu	37	17	78682756	78682756	+	Intron	SNP	G	G	A	rs12453034	byFrequency	TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:78682756G>A	ENST00000306801.3	+	4	869				RPTOR_ENST00000544334.2_Intron|RPTOR_ENST00000570891.1_Intron|RPTOR_ENST00000537330.1_Intron	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1						cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CTCTGACTCCGTTTCTTCACA	0.582													G|||	857	0.171126	0.0318	0.1816	5008	,	,		18492	0.2331		0.2475	False		,,,				2504	0.2096					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.507+957G>A	17.37:g.78682756G>A			B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	RNA	SNP	-	NULL	ENST00000306801.3	37	NULL	CCDS11773.1	17																																																																																			RPTOR	-	-	ENSG00000141564		0.582	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1	9	0.00	0	G	NM_020761		78682756	78682756	+1	no_errors	ENST00000572733	ensembl	human	putative	69_37n	rna	3	70.00	7	SNP	0.000	A
RPTOR	57521	genome.wustl.edu	37	17	78796975	78796975	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:78796975C>T	ENST00000306801.3	+	9	1450	c.1088C>T	c.(1087-1089)aCt>aTt	p.T363I	RPTOR_ENST00000544334.2_Missense_Mutation_p.T363I|RPTOR_ENST00000570891.1_Missense_Mutation_p.T363I|RPTOR_ENST00000537330.1_Missense_Mutation_p.T178I|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	363					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TATAACTGCACTCCCGTCAGC	0.552																																						dbGAP											0													102.0	104.0	103.0					17																	78796975		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1088C>T	17.37:g.78796975C>T	ENSP00000307272:p.Thr363Ile		B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor	p.T363I	ENST00000306801.3	37	c.1088	CCDS11773.1	17	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318201	0.40996	.	.	ENSG00000141564	ENST00000537330;ENST00000306801;ENST00000544334	T;T	0.51071	0.74;0.72	5.37	5.37	0.77165	.	0.057964	0.64402	D	0.000002	T	0.64735	0.2625	M	0.87547	2.89	0.58432	D	0.999997	P;D;P	0.57571	0.527;0.98;0.49	B;P;B	0.53649	0.354;0.731;0.265	T	0.67277	-0.5711	10	0.33141	T	0.24	.	14.6932	0.69101	0.0:0.8553:0.1447:0.0	.	363;178;363	F5H7J5;F5GXV9;Q8N122	.;.;RPTOR_HUMAN	I	178;363;363	ENSP00000307272:T363I;ENSP00000442479:T363I	ENSP00000307272:T363I	T	+	2	0	RPTOR	76411570	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	5.631000	0.67812	2.513000	0.84729	0.650000	0.86243	ACT	RPTOR	-	NULL	ENSG00000141564		0.552	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1	121	0.00	0	C	NM_020761		78796975	78796975	+1	no_errors	ENST00000306801	ensembl	human	known	69_37n	missense	194	18.49	44	SNP	1.000	T
RRAS	6237	genome.wustl.edu	37	19	50139933	50139933	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:50139933G>A	ENST00000246792.3	-	4	498	c.396C>T	c.(394-396)cgC>cgT	p.R132R		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	132					axon guidance (GO:0007411)|negative regulation of cell migration (GO:0030336)|positive regulation of angiogenesis (GO:0045766)|Ras protein signal transduction (GO:0007265)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		GGAAGTCGTCGCGGTCCTTGA	0.617																																						dbGAP											0													98.0	76.0	83.0					19																	50139933		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12774.1	19q13.33	2014-05-09				ENSG00000126458			10447	protein-coding gene	gene with protein product	"""Oncogene RRAS"""	165090				3098437	Standard	NM_006270		Approved		uc002pop.1	P10301		ENST00000246792.3:c.396C>T	19.37:g.50139933G>A			Q6FH12	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R132	ENST00000246792.3	37	c.396	CCDS12774.1	19																																																																																			RRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000126458		0.617	RRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAS	HGNC	protein_coding	OTTHUMT00000465791.1	83	0.00	0	G	NM_006270		50139933	50139933	-1	no_errors	ENST00000246792	ensembl	human	known	69_37n	silent	86	34.85	46	SNP	0.449	A
RRNAD1	51093	genome.wustl.edu	37	1	156703206	156703206	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:156703206T>C	ENST00000368216.4	+	5	1160	c.530T>C	c.(529-531)tTg>tCg	p.L177S	RRNAD1_ENST00000368218.4_Missense_Mutation_p.L177S|RRNAD1_ENST00000476229.1_Missense_Mutation_p.L54S	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	177						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						GGCCTGGGGTTGATGGTGAAG	0.587																																						dbGAP											0													85.0	92.0	89.0					1																	156703206		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 66"""	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.530T>C	1.37:g.156703206T>C	ENSP00000357199:p.Leu177Ser		D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	NULL	p.L177S	ENST00000368216.4	37	c.530	CCDS1154.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.8|21.8	4.195244|4.195244	0.78902|0.78902	.|.	.|.	ENSG00000143303|ENSG00000143303	ENST00000368218;ENST00000368216;ENST00000519086;ENST00000484742;ENST00000476229|ENST00000522237	T;T;T;T|.	0.46819|.	0.86;0.86;0.86;0.86|.	4.75|4.75	4.75|4.75	0.60458|0.60458	Ribosomal RNA adenine methylase transferase, conserved site (1);|.	0.073144|.	0.56097|.	D|.	0.000030|.	T|.	0.75671|.	0.3881|.	M|M	0.90309|0.90309	3.105|3.105	0.49915|0.49915	D|D	0.999835|0.999835	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|.	0.81217|.	-0.1033|.	10|.	0.72032|.	D|.	0.01|.	-6.6843|-6.6843	13.2326|13.2326	0.59951|0.59951	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	177;177|.	Q4VX71;Q96FB5|.	.;RRNAD_HUMAN|.	S|R	177;177;156;75;54|64	ENSP00000357201:L177S;ENSP00000357199:L177S;ENSP00000429756:L156S;ENSP00000429053:L75S|.	ENSP00000357199:L177S|.	L|X	+|+	2|1	0|0	RRNAD1|RRNAD1	154969830|154969830	0.932000|0.932000	0.31603|0.31603	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	4.491000|4.491000	0.60326|0.60326	2.015000|2.015000	0.59207|0.59207	0.459000|0.459000	0.35465|0.35465	TTG|TGA	RRNAD1	-	NULL	ENSG00000143303		0.587	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRNAD1	HGNC	protein_coding	OTTHUMT00000098973.1	116	0.00	0	T	NM_015997		156703206	156703206	+1	no_errors	ENST00000368216	ensembl	human	known	69_37n	missense	184	25.20	62	SNP	1.000	C
RTL1	388015	genome.wustl.edu	37	14	101350748	101350748	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:101350748G>A	ENST00000534062.1	-	1	436	c.378C>T	c.(376-378)gtC>gtT	p.V126V	MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA|MIR136_ENST00000385207.1_RNA|MIR127_ENST00000384876.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	126					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CCGATGGGTTGACTGATGCTT	0.537																																						dbGAP											0													119.0	98.0	104.0					14																	101350748		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.378C>T	14.37:g.101350748G>A			E9PKS8	Silent	SNP	pfam_Retrotrans_gag,superfamily_Peptidase_aspartic	p.V126	ENST00000534062.1	37	c.378	CCDS53910.1	14																																																																																			RTL1	-	NULL	ENSG00000254656		0.537	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	132	0.00	0	G	NM_001134888		101350748	101350748	-1	no_errors	ENST00000534062	ensembl	human	known	69_37n	silent	192	12.33	27	SNP	0.000	A
RTN4	57142	genome.wustl.edu	37	2	55209652	55209652	+	Splice_Site	SNP	T	T	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:55209652T>G	ENST00000337526.6	-	5	3602	c.3359A>C	c.(3358-3360)aAg>aCg	p.K1120T	RTN4_ENST00000357376.3_Splice_Site_p.K914T|RTN4_ENST00000357732.4_Splice_Site_p.K320T|RTN4_ENST00000404909.1_Splice_Site_p.K914T|RTN4_ENST00000354474.6_Splice_Site_p.K888T|RTN4_ENST00000317610.7_Splice_Site_p.K301T|RTN4_ENST00000402434.2_Splice_Site_p.K273T|RTN4_ENST00000394609.2_Splice_Site_p.K127T|RTN4_ENST00000394611.2_Splice_Site_p.K914T|RTN4_ENST00000486085.1_5'UTR|RTN4_ENST00000405240.1_Splice_Site_p.K914T	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	1120	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TAAACTTACCTTCAGAGAATC	0.338																																						dbGAP											0													63.0	61.0	62.0					2																	55209652		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.3360+1A>C	2.37:g.55209652T>G			O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.K1120T	ENST00000337526.6	37	c.3359	CCDS42684.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.44|17.44	3.390466|3.390466	0.62066|0.62066	.|.	.|.	ENSG00000115310|ENSG00000115310	ENST00000438462|ENST00000394609;ENST00000405240;ENST00000357376;ENST00000337526;ENST00000317610;ENST00000357732;ENST00000394611;ENST00000404909;ENST00000402434;ENST00000354474	.|T;T;T;T;T;T;T;T;T;T	.|0.53206	.|0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.63|5.63	4.47|4.47	0.54385|0.54385	.|.	.|0.129817	.|0.64402	.|D	.|0.000001	T|T	0.70894|0.70894	0.3276|0.3276	M|M	0.87758|0.87758	2.905|2.905	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.999;0.999;0.999	T|T	0.75436|0.75436	-0.3318|-0.3318	5|10	.|0.87932	.|D	.|0	-16.9666|-16.9666	11.762|11.762	0.51910|0.51910	0.0:0.069:0.0:0.931|0.0:0.069:0.0:0.931	.|.	.|301;320;1120;127	.|Q7L7Q6;Q9NQC3-5;Q9NQC3;Q7L7Q5	.|.;.;RTN4_HUMAN;.	D|T	143|127;914;914;1120;301;320;914;914;273;888	.|ENSP00000378107:K127T;ENSP00000384471:K914T;ENSP00000349944:K914T;ENSP00000337838:K1120T;ENSP00000322147:K301T;ENSP00000350365:K320T;ENSP00000378109:K914T;ENSP00000385650:K914T;ENSP00000384825:K273T;ENSP00000346465:K888T	.|ENSP00000322147:K301T	E|K	-|-	3|2	2|0	RTN4|RTN4	55063156|55063156	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.358000|0.358000	0.29455|0.29455	7.907000|7.907000	0.87430|0.87430	1.067000|1.067000	0.40740|0.40740	-0.256000|-0.256000	0.11100|0.11100	GAA|AAG	RTN4	-	pfam_Reticulon,pfscan_Reticulon	ENSG00000115310		0.338	RTN4-001	KNOWN	basic|CCDS	protein_coding	RTN4	HGNC	protein_coding	OTTHUMT00000251484.1	52	0.00	0	T		Missense_Mutation	55209652	55209652	-1	no_errors	ENST00000337526	ensembl	human	known	69_37n	missense	14	36.36	8	SNP	1.000	G
RYR1	6261	genome.wustl.edu	37	19	38954467	38954467	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:38954467G>A	ENST00000359596.3	+	22	2763	c.2763G>A	c.(2761-2763)ctG>ctA	p.L921L	RYR1_ENST00000360985.3_Silent_p.L921L|RYR1_ENST00000355481.4_Silent_p.L921L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	921	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)	ACTACAACCTGCAGATGTCTG	0.627																																						dbGAP											0													69.0	67.0	68.0					19																	38954467		2203	4300	6503	-	-	-	SO:0001819	synonymous_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.2763G>A	19.37:g.38954467G>A			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	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.L921	ENST00000359596.3	37	c.2763	CCDS33011.1	19																																																																																			RYR1	-	pfam_Ryanodine_rcpt	ENSG00000196218		0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	27	0.00	0	G			38954467	38954467	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	silent	56	29.11	23	SNP	1.000	A
RYR1	6261	genome.wustl.edu	37	19	38954484	38954484	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:38954484C>T	ENST00000359596.3	+	22	2780	c.2780C>T	c.(2779-2781)aCg>aTg	p.T927M	RYR1_ENST00000360985.3_Missense_Mutation_p.T927M|RYR1_ENST00000355481.4_Missense_Mutation_p.T927M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	927	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)	TCTGGGGAGACGCTCAAGTGA	0.627																																						dbGAP											0													52.0	52.0	52.0					19																	38954484		2203	4300	6503	-	-	-	SO:0001583	missense	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.2780C>T	19.37:g.38954484C>T	ENSP00000352608:p.Thr927Met		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	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.T927M	ENST00000359596.3	37	c.2780	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	c	16.55	3.153867	0.57259	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.92048	-2.96;-2.96;-2.96	4.0	4.0	0.46444	Ryanodine receptor Ryr (1);	0.000000	0.64402	U	0.000002	D	0.95736	0.8613	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96462	0.9342	10	0.87932	D	0	.	15.9968	0.80256	0.0:1.0:0.0:0.0	.	927;927	P21817-2;P21817	.;RYR1_HUMAN	M	927	ENSP00000352608:T927M;ENSP00000347667:T927M;ENSP00000354254:T927M	ENSP00000347667:T927M	T	+	2	0	RYR1	43646324	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	7.462000	0.80851	2.093000	0.63338	0.444000	0.29173	ACG	RYR1	-	pfam_Ryanodine_rcpt	ENSG00000196218		0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	26	0.00	0	C			38954484	38954484	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	missense	56	11.11	7	SNP	1.000	T
SACS	26278	genome.wustl.edu	37	13	23913916	23913916	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr13:23913916A>G	ENST00000382292.3	-	9	4372	c.4099T>C	c.(4099-4101)Tat>Cat	p.Y1367H	SACS_ENST00000382298.3_Missense_Mutation_p.Y1367H|SACS_ENST00000402364.1_Missense_Mutation_p.Y617H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1367					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGATTGCTATACAGCCATCTG	0.358																																						dbGAP											0													163.0	151.0	155.0					13																	23913916		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4099T>C	13.37:g.23913916A>G	ENSP00000371729:p.Tyr1367His		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.Y1367H	ENST00000382292.3	37	c.4099	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	A	4.818	0.152156	0.09185	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.93547	-3.24;-3.24;-3.24	6.06	6.06	0.98353	.	0.124036	0.56097	D	0.000029	D	0.90202	0.6937	L	0.44542	1.39	0.30135	N	0.80442	B	0.09022	0.002	B	0.06405	0.002	T	0.82841	-0.0258	10	0.22109	T	0.4	.	16.6127	0.84892	1.0:0.0:0.0:0.0	.	1367	Q9NZJ4	SACS_HUMAN	H	1367;617;1367	ENSP00000371729:Y1367H;ENSP00000385844:Y617H;ENSP00000371735:Y1367H	ENSP00000371729:Y1367H	Y	-	1	0	SACS	22811916	1.000000	0.71417	0.674000	0.29902	0.336000	0.28762	5.799000	0.69101	2.322000	0.78497	0.528000	0.53228	TAT	SACS	-	NULL	ENSG00000151835		0.358	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	355	0.00	0	A	NM_014363		23913916	23913916	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	missense	84	17.65	18	SNP	0.877	G
SALL2	6297	genome.wustl.edu	37	14	21993615	21993615	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:21993615G>C	ENST00000327430.3	-	2	541	c.247C>G	c.(247-249)Cct>Gct	p.P83A	SALL2_ENST00000450879.2_Missense_Mutation_p.P81A|SALL2_ENST00000538754.1_Missense_Mutation_p.P81A|SALL2_ENST00000317492.5_Missense_Mutation_p.P83A|AE000658.22_ENST00000535893.1_RNA	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	83					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGACCCTCAGGCCGGGGTTCA	0.592																																						dbGAP											0													75.0	76.0	75.0					14																	21993615		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.247C>G	14.37:g.21993615G>C	ENSP00000333537:p.Pro83Ala		B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P83A	ENST00000327430.3	37	c.247	CCDS32045.1	14	.	.	.	.	.	.	.	.	.	.	G	7.751	0.703289	0.15172	.	.	ENSG00000165821	ENST00000327430;ENST00000317492;ENST00000538754;ENST00000450879;ENST00000541876;ENST00000537235;ENST00000541965	T;T;T;T;T;T	0.34472	3.5;1.49;1.37;3.48;1.53;1.36	4.36	2.4	0.29515	.	0.432330	0.17129	N	0.185893	T	0.19446	0.0467	N	0.15975	0.35	0.20403	N	0.999907	B;B;B;B;B;B	0.15930	0.001;0.001;0.001;0.014;0.015;0.001	B;B;B;B;B;B	0.19946	0.002;0.003;0.002;0.012;0.027;0.001	T	0.14448	-1.0472	10	0.34782	T	0.22	-4.476	6.6042	0.22716	0.1002:0.3836:0.5162:0.0	.	81;81;81;83;81;83	B4DK65;E7EW59;B4DFD9;F5GY43;Q8N656;Q9Y467	.;.;.;.;.;SALL2_HUMAN	A	83;83;81;81;83;81;21	ENSP00000333537:P83A;ENSP00000320536:P83A;ENSP00000445916:P81A;ENSP00000396773:P81A;ENSP00000438493:P81A;ENSP00000439654:P21A	ENSP00000320536:P83A	P	-	1	0	SALL2	21063455	0.989000	0.36119	1.000000	0.80357	0.976000	0.68499	0.970000	0.29383	1.065000	0.40693	0.558000	0.71614	CCT	SALL2	-	NULL	ENSG00000165821		0.592	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL2	HGNC	protein_coding	OTTHUMT00000401242.1	105	0.00	0	G	NM_005407		21993615	21993615	-1	no_errors	ENST00000327430	ensembl	human	known	69_37n	missense	177	14.08	29	SNP	0.881	C
SAMD4A	23034	genome.wustl.edu	37	14	55203892	55203892	+	Frame_Shift_Del	DEL	C	C	-	rs545730881		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:55203892delC	ENST00000554335.1	+	4	1529	c.866delC	c.(865-867)gccfs	p.A289fs	SAMD4A_ENST00000392067.3_Frame_Shift_Del_p.A289fs|SAMD4A_ENST00000357634.3_Frame_Shift_Del_p.A288fs|SAMD4A_ENST00000251091.5_Intron			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	289					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TCCGATCATGCCCCCCTGTCT	0.527																																						dbGAP											0													208.0	192.0	197.0					14																	55203892		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.866delC	14.37:g.55203892delC	ENSP00000452535:p.Ala289fs		A8MPZ5|Q0VA96|Q6PEW4	Frame_Shift_Del	DEL	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	p.L291fs	ENST00000554335.1	37	c.866	CCDS32084.2	14																																																																																			SAMD4A	-	NULL	ENSG00000020577		0.527	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4A	HGNC	protein_coding	OTTHUMT00000411186.1	339	0.00	0	C	NM_015589		55203892	55203892	+1	no_errors	ENST00000392067	ensembl	human	known	69_37n	frame_shift_del	52	16.13	10	DEL	1.000	-
SAMM50	25813	genome.wustl.edu	37	22	44392209	44392209	+	Intron	DEL	T	T	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr22:44392209delT	ENST00000350028.4	+	15	1521				PARVB_ENST00000406477.3_5'Flank|SAMM50_ENST00000396202.3_Intron	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component						cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				ATCTCTCCCCTTTTTTTAGGA	0.602																																						dbGAP											0													273.0	294.0	287.0					22																	44392209		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.1365-9T>-	22.37:g.44392209delT			Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	RNA	DEL	-	NULL	ENST00000350028.4	37	NULL	CCDS14055.1	22																																																																																			SAMM50	-	-	ENSG00000100347		0.602	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMM50	HGNC	protein_coding	OTTHUMT00000318898.2	135	0.00	0	T	NM_015380		44392209	44392209	+1	no_errors	ENST00000493621	ensembl	human	known	69_37n	rna	164	12.95	25	DEL	0.000	-
SAP130	79595	genome.wustl.edu	37	2	128767878	128767878	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:128767878A>G	ENST00000259235.3	-	7	1041	c.912T>C	c.(910-912)acT>acC	p.T304T	SAP130_ENST00000259234.6_Silent_p.T278T|SAP130_ENST00000357702.5_Silent_p.T304T	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	304					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCGCTGTCGTAGTGATGACTG	0.512																																						dbGAP											0													129.0	111.0	117.0					2																	128767878		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.912T>C	2.37:g.128767878A>G			B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Silent	SNP	NULL	p.T304	ENST00000259235.3	37	c.912	CCDS2153.1	2																																																																																			SAP130	-	NULL	ENSG00000136715		0.512	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	HGNC	protein_coding	OTTHUMT00000254436.3	371	0.27	1	A	NM_024545		128767878	128767878	-1	no_errors	ENST00000357702	ensembl	human	known	69_37n	silent	115	17.86	25	SNP	0.706	G
SCAMP3	10067	genome.wustl.edu	37	1	155231397	155231397	+	Intron	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:155231397C>A	ENST00000302631.3	-	2	252				SCAMP3_ENST00000472397.1_5'Flank|CLK2_ENST00000497188.1_5'Flank|SCAMP3_ENST00000355379.3_Intron	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3						post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TAACTTGTCTCACTGGCAAAC	0.537																																						dbGAP											0													96.0	82.0	87.0					1																	155231397		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"""Secretory carrier membrane proteins"""	10565	protein-coding gene	gene with protein product	"""Propin 1"""	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.144+50G>T	1.37:g.155231397C>A			A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	RNA	SNP	-	NULL	ENST00000302631.3	37	NULL	CCDS1105.1	1																																																																																			SCAMP3	-	-	ENSG00000116521		0.537	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP3	HGNC	protein_coding	OTTHUMT00000087399.1	79	0.00	0	C	NM_005698		155231397	155231397	-1	no_errors	ENST00000480219	ensembl	human	known	69_37n	rna	156	11.86	21	SNP	0.000	A
SCLY	51540	genome.wustl.edu	37	2	239005491	239005491	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:239005491C>T	ENST00000555827.1	+	11	1222	c.1158C>T	c.(1156-1158)gcC>gcT	p.A386A	SCLY_ENST00000254663.6_Silent_p.A394A|SCLY_ENST00000429612.2_Silent_p.A180A|SCLY_ENST00000422984.2_Silent_p.A292A			Q96I15	SCLY_HUMAN	selenocysteine lyase	386					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		GTGTGGGGGCCGCGTGCCACT	0.677																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	dbGAP											0													37.0	36.0	36.0					2																	239005491		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"""putative selenocysteine lyase"""	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.1158C>T	2.37:g.239005491C>T			B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Missense_Mutation	SNP	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.R202C	ENST00000555827.1	37	c.604		2	.	.	.	.	.	.	.	.	.	.	c	1.999	-0.429847	0.04701	.	.	ENSG00000132330	ENST00000412508;ENST00000437134	.	.	.	4.7	-9.4	0.00616	.	.	.	.	.	T	0.49474	0.1559	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60260	-0.7298	4	.	.	.	-15.8192	10.4471	0.44501	0.1782:0.1335:0.0:0.6883	.	.	.	.	C	181;202	.	.	R	+	1	0	SCLY	238670230	0.000000	0.05858	0.020000	0.16555	0.029000	0.11900	-2.607000	0.00887	-2.385000	0.00590	-0.258000	0.10820	CGC	SCLY	-	superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000132330		0.677	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	SCLY	HGNC	protein_coding		82	0.00	0	C	NM_016510		239005491	239005491	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000437134	ensembl	human	putative	69_37n	missense	104	27.08	39	SNP	0.154	T
SCNN1D	6339	genome.wustl.edu	37	1	1222496	1222496	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:1222496G>A	ENST00000338555.2	+	6	1779	c.635G>A	c.(634-636)aGc>aAc	p.S212N	SCNN1D_ENST00000379116.5_Missense_Mutation_p.S376N|SCNN1D_ENST00000400928.3_Missense_Mutation_p.S212N|SCNN1D_ENST00000325425.8_Missense_Mutation_p.S278N			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	212					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	CAGTGCAACAGCACGGGCGGC	0.662																																						dbGAP											0													39.0	36.0	37.0					1																	1222496		2196	4291	6487	-	-	-	SO:0001583	missense	0			U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.635G>A	1.37:g.1222496G>A	ENSP00000339504:p.Ser212Asn		A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	pfam_Na+channel_ASC,superfamily_FH2_actin-bd,prints_Na+channel_ASC,tigrfam_EnaC	p.S376N	ENST00000338555.2	37	c.1127		1	.	.	.	.	.	.	.	.	.	.	G	9.745	1.166031	0.21538	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928;ENST00000379099	T;T;T;T	0.69685	-0.42;-0.37;-0.41;-0.37	4.61	2.73	0.32206	.	0.280748	0.30020	N	0.010613	T	0.65123	0.2661	L	0.35723	1.085	0.24453	N	0.994477	D;D	0.89917	0.987;1.0	D;D	0.69307	0.95;0.963	T	0.53913	-0.8371	10	0.16420	T	0.52	.	4.6541	0.12610	0.2758:0.1744:0.5498:0.0	.	212;376	P51172;A6NNF7	SCNND_HUMAN;.	N	243;376;212;278;212;3	ENSP00000368411:S376N;ENSP00000339504:S212N;ENSP00000321594:S278N;ENSP00000383717:S212N	ENSP00000321594:S278N	S	+	2	0	SCNN1D	1212359	0.372000	0.25064	0.428000	0.26697	0.062000	0.15995	1.119000	0.31258	0.382000	0.24878	0.313000	0.20887	AGC	SCNN1D	-	pfam_Na+channel_ASC,tigrfam_EnaC	ENSG00000162572		0.662	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	SCNN1D	HGNC	protein_coding	OTTHUMT00000005802.2	68	0.00	0	G	NM_002978		1222496	1222496	+1	no_errors	ENST00000379116	ensembl	human	known	69_37n	missense	92	14.55	16	SNP	0.912	A
SCUBE1	80274	genome.wustl.edu	37	22	43610111	43610111	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr22:43610111C>T	ENST00000360835.4	-	16	2164	c.2038G>A	c.(2038-2040)Gtg>Atg	p.V680M	Z82214.3_ENST00000420269.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	680					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CATTCCGACACGTTGCGGGCA	0.642																																						dbGAP											0													49.0	37.0	41.0					22																	43610111		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2038G>A	22.37:g.43610111C>T	ENSP00000354080:p.Val680Met		Q5R336	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.V680M	ENST00000360835.4	37	c.2038	CCDS14048.1	22	.	.	.	.	.	.	.	.	.	.	c	11.28	1.591611	0.28357	.	.	ENSG00000159307	ENST00000360835;ENST00000381243	T	0.15952	2.38	3.91	2.88	0.33553	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.054690	0.64402	D	0.000001	T	0.15739	0.0379	L	0.42245	1.32	0.80722	D	1	B	0.27166	0.17	B	0.29663	0.105	T	0.05835	-1.0861	10	0.42905	T	0.14	.	11.6515	0.51292	0.0:0.9122:0.0:0.0878	.	680	Q8IWY4	SCUB1_HUMAN	M	680;310	ENSP00000354080:V680M	ENSP00000354080:V680M	V	-	1	0	SCUBE1	41940055	0.998000	0.40836	0.713000	0.30519	0.634000	0.38068	2.503000	0.45407	0.996000	0.38943	0.550000	0.68814	GTG	SCUBE1	-	pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt	ENSG00000159307		0.642	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE1	HGNC	protein_coding	OTTHUMT00000319582.3	44	0.00	0	C	NM_173050		43610111	43610111	-1	no_errors	ENST00000360835	ensembl	human	known	69_37n	missense	52	14.75	9	SNP	1.000	T
SCYL1	57410	genome.wustl.edu	37	11	65293598	65293598	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:65293598G>T	ENST00000270176.5	+	4	456	c.379G>T	c.(379-381)Gcc>Tcc	p.A127S	SCYL1_ENST00000533862.1_Missense_Mutation_p.A127S|SCYL1_ENST00000420247.2_Missense_Mutation_p.A127S|SCYL1_ENST00000527009.1_5'UTR|SCYL1_ENST00000524944.1_Missense_Mutation_p.A127S|SCYL1_ENST00000525364.1_Missense_Mutation_p.A127S|SCYL1_ENST00000279270.6_Missense_Mutation_p.A127S	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	127	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						CCCCCAGAAAGCCCTCAGCTT	0.627																																						dbGAP											0													33.0	40.0	37.0					11																	65293598		2053	4179	6232	-	-	-	SO:0001583	missense	0			AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.379G>T	11.37:g.65293598G>T	ENSP00000270176:p.Ala127Ser		A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	p.A127S	ENST00000270176.5	37	c.379	CCDS41672.1	11	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654364	0.88056	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000417543	T;T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	4.84	4.84	0.62591	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84483	0.5482	M	0.86740	2.835	0.80722	D	1	P;D;D;D	0.54964	0.859;0.969;0.969;0.967	P;P;P;P	0.62014	0.842;0.891;0.891;0.897	D	0.87446	0.2398	10	0.66056	D	0.02	-14.8789	15.4361	0.75149	0.0:0.0:1.0:0.0	.	127;127;127;127	E9PS17;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;NTKL_HUMAN	S	127	ENSP00000270176:A127S;ENSP00000431635:A127S;ENSP00000408192:A127S;ENSP00000437254:A127S;ENSP00000433450:A127S;ENSP00000279270:A127S;ENSP00000432175:A127S	ENSP00000270176:A127S	A	+	1	0	SCYL1	65050174	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.538000	0.73852	2.220000	0.72140	0.549000	0.68633	GCC	SCYL1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	ENSG00000142186		0.627	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL1	HGNC	protein_coding	OTTHUMT00000389159.2	95	0.00	0	G	NM_020680		65293598	65293598	+1	no_errors	ENST00000270176	ensembl	human	known	69_37n	missense	116	14.60	20	SNP	1.000	T
SDF4	51150	genome.wustl.edu	37	1	1158710	1158710	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:1158710A>G	ENST00000360001.6	-	4	753	c.491T>C	c.(490-492)gTg>gCg	p.V164A	SDF4_ENST00000263741.7_Missense_Mutation_p.V164A|SDF4_ENST00000545427.1_Missense_Mutation_p.V164A			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	164	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CAAAAACTTCACCTTATACTC	0.522																																						dbGAP											0													225.0	197.0	207.0					1																	1158710		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"""EF-hand domain containing"""	24188	protein-coding gene	gene with protein product	"""calcium binding protein"""	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.491T>C	1.37:g.1158710A>G	ENSP00000353094:p.Val164Ala		B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.V164A	ENST00000360001.6	37	c.491	CCDS30553.1	1	.	.	.	.	.	.	.	.	.	.	a	7.632	0.679062	0.14907	.	.	ENSG00000078808	ENST00000360001;ENST00000263741;ENST00000545427	T;T;T	0.08370	3.1;3.1;3.1	4.59	4.59	0.56863	EF-hand-like domain (1);	0.213643	0.40222	N	0.001148	T	0.06188	0.0160	L	0.28274	0.84	0.38699	D	0.952943	B;B;B	0.22146	0.007;0.065;0.001	B;B;B	0.19666	0.026;0.025;0.01	T	0.21177	-1.0253	10	0.08837	T	0.75	-28.4509	13.1711	0.59599	1.0:0.0:0.0:0.0	.	98;164;164	B1AME7;Q9BRK5-6;Q9BRK5	.;.;CAB45_HUMAN	A	164	ENSP00000353094:V164A;ENSP00000263741:V164A;ENSP00000444451:V164A	ENSP00000263741:V164A	V	-	2	0	SDF4	1148573	1.000000	0.71417	0.998000	0.56505	0.044000	0.14063	6.343000	0.72986	1.700000	0.51204	0.444000	0.29173	GTG	SDF4	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000078808		0.522	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDF4	HGNC	protein_coding	OTTHUMT00000005064.1	457	0.65	3	A	NM_016176		1158710	1158710	-1	no_errors	ENST00000360001	ensembl	human	known	69_37n	missense	558	13.82	90	SNP	1.000	G
SDK1	221935	genome.wustl.edu	37	7	4050679	4050679	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:4050679C>T	ENST00000404826.2	+	15	2352	c.2213C>T	c.(2212-2214)aCc>aTc	p.T738I	SDK1_ENST00000389531.3_Missense_Mutation_p.T738I	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	738	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCGGCTCGTACCTATCAATTC	0.582																																						dbGAP											0													55.0	50.0	51.0					7																	4050679		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2213C>T	7.37:g.4050679C>T	ENSP00000385899:p.Thr738Ile		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T738I	ENST00000404826.2	37	c.2213	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563486	0.86335	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.58210	0.35;0.35	5.55	5.55	0.83447	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.69735	0.3144	L	0.55990	1.75	0.53688	D	0.999973	D;D	0.76494	0.991;0.999	P;D	0.69824	0.848;0.966	T	0.71170	-0.4671	10	0.72032	D	0.01	.	19.5219	0.95189	0.0:1.0:0.0:0.0	.	738;738	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	I	738	ENSP00000385899:T738I;ENSP00000374182:T738I	ENSP00000374182:T738I	T	+	2	0	SDK1	4017205	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	7.385000	0.79763	2.606000	0.88127	0.655000	0.94253	ACC	SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.582	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	125	0.00	0	C	NM_152744		4050679	4050679	+1	no_errors	ENST00000404826	ensembl	human	known	69_37n	missense	78	21.78	22	SNP	1.000	T
SDK1	221935	genome.wustl.edu	37	7	4056935	4056935	+	Silent	SNP	C	C	T	rs562967510		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:4056935C>T	ENST00000404826.2	+	17	2692	c.2553C>T	c.(2551-2553)gcC>gcT	p.A851A	SDK1_ENST00000389531.3_Silent_p.A851A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	851	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACAACGGGGCCGGTCTGGGCG	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		17508	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													74.0	68.0	70.0					7																	4056935		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2553C>T	7.37:g.4056935C>T			Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A851	ENST00000404826.2	37	c.2553	CCDS34590.1	7																																																																																			SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.592	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	177	0.00	0	C	NM_152744		4056935	4056935	+1	no_errors	ENST00000404826	ensembl	human	known	69_37n	silent	131	11.41	17	SNP	0.005	T
SEC16A	9919	genome.wustl.edu	37	9	139357507	139357507	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:139357507A>G	ENST00000371706.3	-	10	4224	c.4191T>C	c.(4189-4191)aaT>aaC	p.N1397N	SEC16A_ENST00000431893.2_Silent_p.N1397N|SEC16A_ENST00000290037.6_Silent_p.N1397N|SEC16A_ENST00000313050.7_Silent_p.N1575N			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1397					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGTTTGCTTCATTGGGCGACT	0.562																																						dbGAP											0													79.0	89.0	86.0					9																	139357507		2063	4192	6255	-	-	-	SO:0001819	synonymous_variant	0			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.4191T>C	9.37:g.139357507A>G			A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	NULL	p.N1575	ENST00000371706.3	37	c.4725		9																																																																																			SEC16A	-	NULL	ENSG00000148396		0.562	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	31	0.00	0	A	XM_088459		139357507	139357507	-1	no_errors	ENST00000313050	ensembl	human	known	69_37n	silent	52	26.76	19	SNP	0.331	G
SEC16A	9919	genome.wustl.edu	37	9	139358092	139358092	+	Intron	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:139358092G>T	ENST00000371706.3	-	8	4008				SEC16A_ENST00000431893.2_Intron|SEC16A_ENST00000290037.6_Intron|SEC16A_ENST00000313050.7_Intron			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)						COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ATGTCTGCAAGGCCGGGCTCA	0.517																																						dbGAP											0													88.0	95.0	93.0					9																	139358092		1987	4162	6149	-	-	-	SO:0001627	intron_variant	0			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.3974+38C>A	9.37:g.139358092G>T			A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	RNA	SNP	-	NULL	ENST00000371706.3	37	NULL		9																																																																																			SEC16A	-	-	ENSG00000148396		0.517	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	100	0.00	0	G	XM_088459		139358092	139358092	-1	no_errors	ENST00000472305	ensembl	human	known	69_37n	rna	176	13.30	27	SNP	0.000	T
SEL1L	6400	genome.wustl.edu	37	14	81964780	81964780	+	Missense_Mutation	SNP	T	T	C	rs201618280		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:81964780T>C	ENST00000336735.4	-	9	1066	c.950A>G	c.(949-951)cAc>cGc	p.H317R		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	317	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		AAGACGATAGTGAGTCAGGGC	0.393																																						dbGAP											0													107.0	96.0	100.0					14																	81964780		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.950A>G	14.37:g.81964780T>C	ENSP00000337053:p.His317Arg		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	pfam_Sel1-like,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_Sel1-like,pfscan_FN_type2_col-bd	p.H317R	ENST00000336735.4	37	c.950	CCDS9876.1	14	.	.	.	.	.	.	.	.	.	.	T	27.0	4.789481	0.90367	.	.	ENSG00000071537	ENST00000336735	T	0.51325	0.71	5.02	5.02	0.67125	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.62732	0.2452	M	0.66939	2.045	0.80722	D	1	P	0.47677	0.899	P	0.57009	0.811	T	0.66380	-0.5938	10	0.66056	D	0.02	.	15.198	0.73108	0.0:0.0:0.0:1.0	.	317	Q9UBV2	SE1L1_HUMAN	R	317	ENSP00000337053:H317R	ENSP00000337053:H317R	H	-	2	0	SEL1L	81034533	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.283000	0.78640	2.228000	0.72767	0.533000	0.62120	CAC	SEL1L	-	pfam_Sel1-like,smart_Sel1-like	ENSG00000071537		0.393	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L	HGNC	protein_coding	OTTHUMT00000413325.1	169	0.00	0	T	NM_005065		81964780	81964780	-1	no_errors	ENST00000336735	ensembl	human	known	69_37n	missense	58	10.77	7	SNP	1.000	C
SEL1L2	80343	genome.wustl.edu	37	20	13894486	13894486	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:13894486G>A	ENST00000284951.5	-	5	565	c.491C>T	c.(490-492)aCa>aTa	p.T164I	SEL1L2_ENST00000378072.5_Missense_Mutation_p.T164I|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	164						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GATAGCTGCTGTTATATTTTG	0.388																																						dbGAP											0													106.0	95.0	98.0					20																	13894486		1822	4082	5904	-	-	-	SO:0001583	missense	0			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.491C>T	20.37:g.13894486G>A	ENSP00000284951:p.Thr164Ile		B4DXX5	Missense_Mutation	SNP	pfam_Sel1-like,smart_Sel1-like	p.T164I	ENST00000284951.5	37	c.491		20	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950598	0.73787	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.51574	0.7;0.7	5.87	5.87	0.94306	Tetratricopeptide-like helical (1);	0.000000	0.53938	D	0.000054	T	0.48314	0.1493	L	0.29908	0.895	0.37264	D	0.907099	P;D	0.57899	0.929;0.981	B;P	0.52109	0.381;0.69	T	0.47560	-0.9108	10	0.38643	T	0.18	-18.7126	16.0731	0.80948	0.0:0.0:1.0:0.0	.	164;164	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	I	164	ENSP00000367312:T164I;ENSP00000284951:T164I	ENSP00000284951:T164I	T	-	2	0	SEL1L2	13842486	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.118000	0.64673	2.941000	0.99782	0.655000	0.94253	ACA	SEL1L2	-	pfam_Sel1-like,smart_Sel1-like	ENSG00000101251		0.388	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SEL1L2	HGNC	protein_coding	OTTHUMT00000078067.3	108	0.00	0	G	NM_025229		13894486	13894486	-1	no_errors	ENST00000284951	ensembl	human	known	69_37n	missense	26	16.13	5	SNP	1.000	A
SEMA4A	64218	genome.wustl.edu	37	1	156132967	156132967	+	Intron	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:156132967C>T	ENST00000368285.3	+	10	1401				SEMA4A_ENST00000368286.2_Intron|SEMA4A_ENST00000487358.1_Intron|SEMA4A_ENST00000368284.1_Intron|SEMA4A_ENST00000368282.1_Intron|SEMA4A_ENST00000355014.2_Intron	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					ATAGTAAATGCCCAATAAATG	0.483																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.1134+82C>T	1.37:g.156132967C>T			B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	RNA	SNP	-	NULL	ENST00000368285.3	37	NULL	CCDS1132.1	1																																																																																			SEMA4A	-	-	ENSG00000196189		0.483	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4A	HGNC	protein_coding	OTTHUMT00000039484.2	16	0.00	0	C	NM_022367		156132967	156132967	+1	no_errors	ENST00000469065	ensembl	human	known	69_37n	rna	35	32.69	17	SNP	0.000	T
SEMA4F	10505	genome.wustl.edu	37	2	74902407	74902407	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:74902407G>A	ENST00000357877.2	+	10	1417	c.1268G>A	c.(1267-1269)gGc>gAc	p.G423D	SEMA4F_ENST00000473350.1_Intron|SEMA4F_ENST00000339773.5_Missense_Mutation_p.G268D	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	423	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CCAGCTGATGGCCACCCCCTG	0.587											OREG0014721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													70.0	64.0	66.0					2																	74902407		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1268G>A	2.37:g.74902407G>A	ENSP00000350547:p.Gly423Asp	1156	Q542Y7|Q9NS35	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.G423D	ENST00000357877.2	37	c.1268	CCDS1955.1	2	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532347	0.45073	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.11277	2.79;2.79	4.9	1.08	0.20341	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.532855	0.18930	N	0.127250	T	0.08714	0.0216	L	0.42487	1.325	0.09310	N	1	B;B	0.30526	0.079;0.283	B;B	0.32149	0.067;0.141	T	0.25363	-1.0134	10	0.44086	T	0.13	.	4.8754	0.13653	0.2499:0.0:0.6009:0.1492	.	268;423	O95754-2;O95754	.;SEM4F_HUMAN	D	423;268	ENSP00000350547:G423D;ENSP00000342675:G268D	ENSP00000342675:G268D	G	+	2	0	SEMA4F	74755915	0.002000	0.14202	0.066000	0.19879	0.996000	0.88848	1.198000	0.32223	0.014000	0.14944	0.453000	0.30009	GGC	SEMA4F	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000135622		0.587	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4F	HGNC	protein_coding	OTTHUMT00000252214.2	277	0.00	0	G	NM_004263		74902407	74902407	+1	no_errors	ENST00000357877	ensembl	human	known	69_37n	missense	117	18.75	27	SNP	0.076	A
SEPT5	5413	genome.wustl.edu	37	22	19707410	19707410	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr22:19707410C>A	ENST00000455784.2	+	4	358	c.233C>A	c.(232-234)gCt>gAt	p.A78D	SEPT5_ENST00000383045.3_Missense_Mutation_p.A87D|SEPT5_ENST00000438754.2_Missense_Mutation_p.A87D|SEPT5_ENST00000406395.1_Missense_Mutation_p.A78D	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	78	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CTGCTCAGTGCTGAGGGTGAG	0.602																																						dbGAP											0													72.0	71.0	72.0					22																	19707410		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.233C>A	22.37:g.19707410C>A	ENSP00000391311:p.Ala78Asp		O15251|Q96MY5	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pirsf_Septin	p.A87D	ENST00000455784.2	37	c.260	CCDS13764.1	22	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825569	0.71143	.	.	ENSG00000184702	ENST00000455784;ENST00000406395;ENST00000446882;ENST00000412544;ENST00000431124;ENST00000383045;ENST00000438754;ENST00000395109	T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;2.94	3.42	3.42	0.39159	.	0.232106	0.35378	N	0.003256	T	0.58133	0.2101	M	0.69823	2.125	0.80722	D	1	D	0.63046	0.992	D	0.74348	0.983	T	0.65602	-0.6128	10	0.72032	D	0.01	.	15.4273	0.75061	0.0:1.0:0.0:0.0	.	78	Q99719	SEPT5_HUMAN	D	78;78;49;31;116;87;87;31	ENSP00000391311:A78D;ENSP00000384535:A78D;ENSP00000408678:A31D;ENSP00000414488:A116D;ENSP00000372515:A87D;ENSP00000394541:A87D;ENSP00000378541:A31D	ENSP00000372515:A87D	A	+	2	0	SEPT5	18087410	1.000000	0.71417	0.974000	0.42286	0.300000	0.27592	5.848000	0.69458	1.952000	0.56665	0.407000	0.27541	GCT	SEPT5	-	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pirsf_Septin	ENSG00000184702		0.602	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT5	HGNC	protein_coding	OTTHUMT00000317937.1	82	0.00	0	C	NM_002688		19707410	19707410	+1	no_errors	ENST00000383045	ensembl	human	known	69_37n	missense	145	11.59	19	SNP	1.000	A
SERINC3	10955	genome.wustl.edu	37	20	43129937	43129937	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:43129937G>A	ENST00000342374.4	-	9	1217	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	SERINC3_ENST00000541235.1_Missense_Mutation_p.R299C|SERINC3_ENST00000255175.1_Missense_Mutation_p.R354C	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	354					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GTGGAAGTGCGGATGCTGGAA	0.493																																						dbGAP											0													95.0	78.0	84.0					20																	43129937		2203	4300	6503	-	-	-	SO:0001583	missense	0			U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.1060C>T	20.37:g.43129937G>A	ENSP00000340243:p.Arg354Cys		B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	pfam_TMS_TDE	p.R354C	ENST00000342374.4	37	c.1060	CCDS13333.1	20	.	.	.	.	.	.	.	.	.	.	G	25.3	4.618830	0.87460	.	.	ENSG00000132824	ENST00000411544;ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.4	4.45	0.53987	.	0.143233	0.64402	N	0.000004	T	0.50871	0.1641	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	T	0.64330	-0.6433	10	0.72032	D	0.01	.	14.1243	0.65210	0.0719:0.0:0.9281:0.0	.	354;354	Q53GK8;Q13530	.;SERC3_HUMAN	C	93;354;354;321;299	ENSP00000414197:R93C;ENSP00000255175:R354C;ENSP00000340243:R354C;ENSP00000440966:R299C	ENSP00000255175:R354C	R	-	1	0	SERINC3	42563351	1.000000	0.71417	0.991000	0.47740	0.968000	0.65278	9.480000	0.97931	1.506000	0.48736	0.563000	0.77884	CGC	SERINC3	-	pfam_TMS_TDE	ENSG00000132824		0.493	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC3	HGNC	protein_coding	OTTHUMT00000080544.3	137	0.00	0	G	NM_006811		43129937	43129937	-1	no_errors	ENST00000255175	ensembl	human	known	69_37n	missense	32	15.79	6	SNP	1.000	A
SERPINB3	6317	genome.wustl.edu	37	18	61324075	61324075	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr18:61324075delC	ENST00000283752.5	-	7	901	c.758delG	c.(757-759)ggtfs	p.G253fs	SERPINB3_ENST00000332821.8_Intron|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	253					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CTTCTGGAGACCATCGATTTC	0.433																																						dbGAP											0													218.0	195.0	203.0					18																	61324075		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.758delG	18.37:g.61324075delC	ENSP00000283752:p.Gly253fs		A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Frame_Shift_Del	DEL	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.G253fs	ENST00000283752.5	37	c.758	CCDS11987.1	18																																																																																			SERPINB3	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000057149		0.433	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB3	HGNC	protein_coding	OTTHUMT00000133791.1	373	0.00	0	C	NM_006919		61324075	61324075	-1	no_errors	ENST00000283752	ensembl	human	known	69_37n	frame_shift_del	27	10.00	3	DEL	0.988	-
SETD7	80854	genome.wustl.edu	37	4	140468117	140468117	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:140468117C>T	ENST00000274031.3	-	2	763	c.127G>A	c.(127-129)Gga>Aga	p.G43R	SETD7_ENST00000406354.1_Silent_p.T25T|SETD7_ENST00000506866.2_Missense_Mutation_p.G43R|SETD7_ENST00000404104.3_Missense_Mutation_p.G43R	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	43					chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					TTCTTTTCTCCGTGAACAAAG	0.478																																						dbGAP											0													103.0	97.0	100.0					4																	140468117		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"""Chromatin-modifying enzymes / K-methyltransferases"""	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.127G>A	4.37:g.140468117C>T	ENSP00000274031:p.Gly43Arg		B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Missense_Mutation	SNP	pfam_MORN,pfam_SET_dom,smart_SET_dom,pirsf_Hist-Lys_N-MeTrfase_SET,pfscan_SET_dom	p.G43R	ENST00000274031.3	37	c.127	CCDS3748.1	4	.	.	.	.	.	.	.	.	.	.	C	34	5.308553	0.95629	.	.	ENSG00000145391	ENST00000506866;ENST00000274031;ENST00000404104	T;T;T	0.75589	-0.95;-0.95;-0.95	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.90807	0.7113	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.988	D	0.92338	0.5879	10	0.87932	D	0	-15.2467	20.3627	0.98863	0.0:1.0:0.0:0.0	.	43;43	B5MCZ8;Q8WTS6	.;SETD7_HUMAN	R	43	ENSP00000427300:G43R;ENSP00000274031:G43R;ENSP00000385913:G43R	ENSP00000274031:G43R	G	-	1	0	SETD7	140687567	1.000000	0.71417	0.971000	0.41717	0.848000	0.48234	7.313000	0.78978	2.885000	0.99019	0.655000	0.94253	GGA	SETD7	-	pfam_MORN,pirsf_Hist-Lys_N-MeTrfase_SET	ENSG00000145391		0.478	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD7	HGNC	protein_coding	OTTHUMT00000257236.1	134	0.00	0	C	NM_030648		140468117	140468117	-1	no_errors	ENST00000274031	ensembl	human	known	69_37n	missense	71	19.32	17	SNP	1.000	T
SETD9	133383	genome.wustl.edu	37	5	56207269	56207269	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:56207269T>C	ENST00000285947.2	+	2	758	c.372T>C	c.(370-372)gtT>gtC	p.V124V	SETD9_ENST00000541720.1_Silent_p.V124V|SETD9_ENST00000475908.1_3'UTR|AC008937.3_ENST00000453721.1_RNA	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9	124	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)										GTTTCAGTGTTGCCCAAGCAA	0.408																																						dbGAP											0													94.0	97.0	96.0					5																	56207269		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC036528	CCDS3972.1	5q11.2	2012-02-23	2012-02-23	2012-02-23	ENSG00000155542	ENSG00000155542			28508	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 35"""	C5orf35		20930037	Standard	NM_153706		Approved	MGC33648	uc003jqx.3	Q8NE22	OTTHUMG00000059485	ENST00000285947.2:c.372T>C	5.37:g.56207269T>C			F5H713	Silent	SNP	NULL	p.V124	ENST00000285947.2	37	c.372	CCDS3972.1	5																																																																																			SETD9	-	NULL	ENSG00000155542		0.408	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD9	HGNC	protein_coding	OTTHUMT00000132304.2	139	0.00	0	T	NM_153706		56207269	56207269	+1	no_errors	ENST00000285947	ensembl	human	known	69_37n	silent	184	10.68	22	SNP	0.545	C
SGIP1	84251	genome.wustl.edu	37	1	67126207	67126207	+	Splice_Site	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:67126207G>A	ENST00000371037.4	+	8	548	c.471G>A	c.(469-471)ccG>ccA	p.P157P	SGIP1_ENST00000237247.6_Splice_Site_p.P161P|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Splice_Site_p.P114P|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000468286.1_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	157					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GGAAAAGTCCGGTAAGAAATA	0.368																																						dbGAP											0													120.0	112.0	115.0					1																	67126207		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.471+1G>A	1.37:g.67126207G>A			A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	p.P161	ENST00000371037.4	37	c.483	CCDS30744.1	1																																																																																			SGIP1	-	NULL	ENSG00000118473		0.368	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4	195	0.00	0	G	NM_032291	Silent	67126207	67126207	+1	no_errors	ENST00000237247	ensembl	human	known	69_37n	silent	33	10.81	4	SNP	1.000	A
SGIP1	84251	genome.wustl.edu	37	1	67207080	67207080	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:67207080G>T	ENST00000371037.4	+	24	2502	c.2425G>T	c.(2425-2427)Ggg>Tgg	p.G809W	SGIP1_ENST00000237247.6_Missense_Mutation_p.G840W|SGIP1_ENST00000371039.1_Missense_Mutation_p.G612W|SGIP1_ENST00000371035.3_Missense_Mutation_p.G599W|SGIP1_ENST00000435165.2_Missense_Mutation_p.G314W|SGIP1_ENST00000371036.3_Missense_Mutation_p.G611W	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	809	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Necessary and sufficient to mediate interaction with CANX. {ECO:0000250}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TGTTGGAGCAGGGTATCGATT	0.413																																						dbGAP											0													124.0	117.0	119.0					1																	67207080		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.2425G>T	1.37:g.67207080G>T	ENSP00000360076:p.Gly809Trp		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	p.G840W	ENST00000371037.4	37	c.2518	CCDS30744.1	1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781459	0.90282	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037;ENST00000435165	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	5.72	5.72	0.89469	Muniscin C-terminal mu homology domain (1);	0.000000	0.85682	D	0.000000	T	0.70211	0.3198	M	0.84433	2.695	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.995	T	0.74372	-0.3687	10	0.87932	D	0	-10.4468	19.8805	0.96895	0.0:0.0:1.0:0.0	.	839;314;411;599;809	A6NEV3;Q6ZV33;B3KR01;B7Z5H8;Q9BQI5	.;.;.;.;SGIP1_HUMAN	W	840;612;599;839;812;611;809;314	ENSP00000237247:G840W;ENSP00000360078:G612W;ENSP00000360074:G599W;ENSP00000360075:G611W;ENSP00000360076:G809W;ENSP00000395525:G314W	ENSP00000237247:G840W	G	+	1	0	SGIP1	66979668	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.360000	0.97119	2.704000	0.92352	0.655000	0.94253	GGG	SGIP1	-	superfamily_Clathrin_mu_C	ENSG00000118473		0.413	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4	225	0.00	0	G	NM_032291		67207080	67207080	+1	no_errors	ENST00000237247	ensembl	human	known	69_37n	missense	148	11.90	20	SNP	1.000	T
SGK223	157285	genome.wustl.edu	37	8	8233987	8233987	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:8233987C>T	ENST00000520004.1	-	3	2196	c.1932G>A	c.(1930-1932)gaG>gaA	p.E644E	SGK223_ENST00000330777.4_Silent_p.E644E			Q86YV5	SG223_HUMAN		646							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GCAATTCCTGCTCCACCTCCT	0.617																																					GBM(34;731 755 10259 33573 33867)	dbGAP											0													109.0	123.0	119.0					8																	8233987		1992	4159	6151	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000520004.1:c.1932G>A	8.37:g.8233987C>T			Q8N3N5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.E644	ENST00000520004.1	37	c.1932	CCDS43706.1	8																																																																																			PRAGMIN	-	NULL	ENSG00000182319		0.617	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	Clone_based_vega_gene	protein_coding	OTTHUMT00000374864.1	168	0.00	0	C			8233987	8233987	-1	no_errors	ENST00000330777	ensembl	human	known	69_37n	silent	209	30.46	92	SNP	0.991	T
SH2B2	10603	genome.wustl.edu	37	7	101957776	101957776	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:101957776C>G	ENST00000536178.1	+	8	1465	c.1420C>G	c.(1420-1422)Cgg>Ggg	p.R474G	SH2B2_ENST00000306803.8_Missense_Mutation_p.R436G			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	437	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191, ECO:0000305}.				actin cytoskeleton organization (GO:0030036)|antigen receptor-mediated signaling pathway (GO:0050851)|B-1 B cell homeostasis (GO:0001922)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cytokine-mediated signaling pathway (GO:0019221)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|regulation of JAK-STAT cascade (GO:0046425)|regulation of metabolic process (GO:0019222)|regulation of Ras protein signal transduction (GO:0046578)|signal transduction (GO:0007165)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stress fiber (GO:0001725)	JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						AGGGGGGCCCCGGAACCACGG	0.632																																						dbGAP											0													27.0	31.0	30.0					7																	101957776		1944	4123	6067	-	-	-	SO:0001583	missense	0			AB000520		7q22.1	2013-02-14			ENSG00000160999	ENSG00000160999		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	17381	protein-coding gene	gene with protein product	"""adaptor protein with pleckstrin homology and src"""	605300				9233773	Standard	XM_005276976		Approved	APS	uc011kko.2	O14492	OTTHUMG00000150652	ENST00000536178.1:c.1420C>G	7.37:g.101957776C>G	ENSP00000440273:p.Arg474Gly		A6ND74	Missense_Mutation	SNP	pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,prints_SH2,pfscan_Pleckstrin_homology,pfscan_SH2	p.R474G	ENST00000536178.1	37	c.1420		7	.	.	.	.	.	.	.	.	.	.	.	7.294	0.611731	0.14066	.	.	ENSG00000160999	ENST00000536178;ENST00000306803	D;D	0.87809	-2.3;-2.3	4.66	2.78	0.32641	SH2 motif (4);	0.058930	0.64402	D	0.000003	D	0.85965	0.5820	L	0.27053	0.805	0.39297	D	0.964844	D	0.89917	1.0	D	0.97110	1.0	T	0.82452	-0.0450	9	0.10377	T	0.69	-31.5483	10.2743	0.43501	0.1532:0.6992:0.1475:0.0	.	437	O14492	SH2B2_HUMAN	G	474;436	ENSP00000440273:R474G;ENSP00000304701:R436G	ENSP00000304701:R436G	R	+	1	2	SH2B2	101744496	0.857000	0.29778	0.884000	0.34674	0.697000	0.40408	1.562000	0.36353	0.526000	0.28541	0.561000	0.74099	CGG	SH2B2	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000160999		0.632	SH2B2-202	KNOWN	basic|appris_candidate_longest	protein_coding	SH2B2	HGNC	protein_coding		62	0.00	0	C	NM_020979		101957776	101957776	+1	no_errors	ENST00000536178	ensembl	human	known	69_37n	missense	117	13.97	19	SNP	0.998	G
SH3GLB1	51100	genome.wustl.edu	37	1	87200848	87200848	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:87200848G>T	ENST00000370558.4	+	7	1071	c.747G>T	c.(745-747)caG>caT	p.Q249H	SH3GLB1_ENST00000535010.1_Missense_Mutation_p.Q149H|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.Q270H	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	249	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		TGGACCTCCAGAAACAACTGG	0.378																																						dbGAP											0													110.0	103.0	105.0					1																	87200848		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	10833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 70"""	609287	"""SH3-domain, GRB2-like, endophilin B1"""			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.747G>T	1.37:g.87200848G>T	ENSP00000473267:p.Gln249His		B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Missense_Mutation	SNP	pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain	p.Q270H	ENST00000370558.4	37	c.810	CCDS710.1	1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.433797	0.62955	.	.	ENSG00000097033	ENST00000212369;ENST00000535010;ENST00000482504	T;T	0.17213	2.29;2.29	5.53	0.42	0.16444	Src homology-3 domain (1);BAR (3);IRSp53/MIM homology domain (IMD) (1);	0.000000	0.85682	D	0.000000	T	0.31040	0.0784	M	0.88842	2.985	0.58432	D	0.999999	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.999;0.998;0.995	T	0.17837	-1.0356	10	0.49607	T	0.09	-3.681	10.5134	0.44874	0.3774:0.0:0.6226:0.0	.	149;270;249	B4E182;Q9Y371-2;Q9Y371	.;.;SHLB1_HUMAN	H	249;149;270	ENSP00000441355:Q149H;ENSP00000418744:Q270H	ENSP00000212369:Q249H	Q	+	3	2	SH3GLB1	86973436	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	0.763000	0.26517	-0.174000	0.10743	0.655000	0.94253	CAG	SH3GLB1	-	pfam_BAR_dom,pfam_BAR_dom-cont,superfamily_SH3_domain,smart_BAR_dom,pfscan_BAR_dom	ENSG00000097033		0.378	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GLB1	HGNC	protein_coding	OTTHUMT00000028287.2	172	0.00	0	G	NM_016009		87200848	87200848	+1	no_errors	ENST00000482504	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	0.999	T
SH2D2A	9047	genome.wustl.edu	37	1	156777006	156777006	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:156777006T>G	ENST00000368199.3	-	8	1287	c.1134A>C	c.(1132-1134)agA>agC	p.R378S	SH2D2A_ENST00000368198.3_Missense_Mutation_p.R360S|SH2D2A_ENST00000392306.2_Missense_Mutation_p.R388S	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	378	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATGCCTGTCCTCTGTCCTGAA	0.597																																						dbGAP											0													87.0	87.0	87.0					1																	156777006		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.1134A>C	1.37:g.156777006T>G	ENSP00000357182:p.Arg378Ser		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.R388S	ENST00000368199.3	37	c.1164	CCDS1159.1	1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.149642	0.37923	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.60548	0.22;0.18;0.66	4.59	1.09	0.20402	.	1.798870	0.04075	N	0.308652	T	0.23846	0.0577	L	0.27053	0.805	0.09310	N	0.999999	P;P;P	0.40731	0.728;0.608;0.608	B;B;B	0.39339	0.297;0.156;0.115	T	0.12167	-1.0558	10	0.35671	T	0.21	0.0091	5.9863	0.19436	0.0:0.3177:0.0:0.6823	.	388;360;378	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	S	378;360;388	ENSP00000357182:R378S;ENSP00000357181:R360S;ENSP00000376123:R388S	ENSP00000357181:R360S	R	-	3	2	SH2D2A	155043630	0.000000	0.05858	0.292000	0.24919	0.840000	0.47671	-0.027000	0.12371	0.376000	0.24707	0.454000	0.30748	AGA	SH2D2A	-	NULL	ENSG00000027869		0.597	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SH2D2A	HGNC	protein_coding	OTTHUMT00000098982.1	54	0.00	0	T	NM_003975		156777006	156777006	-1	no_errors	ENST00000392306	ensembl	human	known	69_37n	missense	76	10.47	9	SNP	0.444	G
SH3KBP1	30011	genome.wustl.edu	37	X	19764460	19764460	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:19764460T>G	ENST00000397821.3	-	3	552	c.262A>C	c.(262-264)Acg>Ccg	p.T88P	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.T88P|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.T51P	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	88					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CTTAAAATCGTTTCAGAAGAC	0.433																																						dbGAP											0													126.0	117.0	120.0					X																	19764460		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.262A>C	X.37:g.19764460T>G	ENSP00000380921:p.Thr88Pro		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.T88P	ENST00000397821.3	37	c.262	CCDS14193.1	X	.	.	.	.	.	.	.	.	.	.	T	15.36	2.811572	0.50527	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234	T;T;T;T;T	0.52057	1.37;1.51;1.21;1.02;0.68	5.84	5.84	0.93424	.	2.168650	0.01507	N	0.017741	T	0.51500	0.1678	L	0.36672	1.1	0.80722	D	1	B;D	0.54964	0.003;0.969	B;P	0.48654	0.001;0.585	T	0.24621	-1.0155	10	0.22109	T	0.4	-13.7138	12.5736	0.56352	0.0:0.0:0.0:1.0	.	88;51	Q96B97;Q5JPT5	SH3K1_HUMAN;.	P	29;88;51;24;88;35	ENSP00000380921:T88P;ENSP00000369020:T51P;ENSP00000369049:T24P;ENSP00000369019:T88P;ENSP00000388766:T35P	ENSP00000369019:T88P	T	-	1	0	SH3KBP1	19674381	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.035000	0.49759	1.957000	0.56846	0.486000	0.48141	ACG	SH3KBP1	-	NULL	ENSG00000147010		0.433	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1	137	0.00	0	T	NM_031892		19764460	19764460	-1	no_errors	ENST00000397821	ensembl	human	known	69_37n	missense	85	12.37	12	SNP	1.000	G
SH3PXD2A	9644	genome.wustl.edu	37	10	105372694	105372694	+	Missense_Mutation	SNP	C	C	T	rs553552960		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:105372694C>T	ENST00000369774.4	-	12	1450	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M	RP11-416N2.4_ENST00000609691.1_RNA|SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.V254M|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.V227M|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.V259M|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.V364M			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	392					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GGAACGCCCACGGCACTGCCA	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21002	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													52.0	47.0	49.0					10																	105372694		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1174G>A	10.37:g.105372694C>T	ENSP00000358789:p.Val392Met		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.V392M	ENST00000369774.4	37	c.1174		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.425|3.425	-0.117278|-0.117278	0.06838|0.06838	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000420222|ENST00000427662;ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	.|T;T;T;T;T	.|0.56275	.|0.53;0.54;0.54;0.69;0.47	5.67|5.67	-0.173|-0.173	0.13322|0.13322	.|.	.|0.347255	.|0.32671	.|N	.|0.005783	T|T	0.12860|0.12860	0.0312|0.0312	N|N	0.01048|0.01048	-1.04|-1.04	0.09310|0.09310	N|N	1|1	.|B;B;B;P;B	.|0.37663	.|0.008;0.033;0.338;0.604;0.004	.|B;B;B;B;B	.|0.26770	.|0.002;0.005;0.018;0.073;0.005	T|T	0.21008|0.21008	-1.0258|-1.0258	5|10	.|0.39692	.|T	.|0.17	-6.0818|-6.0818	0.7638|0.7638	0.01011|0.01011	0.1737:0.2108:0.2847:0.3309|0.1737:0.2108:0.2847:0.3309	.|.	.|392;241;254;237;364	.|Q5TCZ1;B7Z9L8;F8WCK5;B7Z3B0;Q5TCZ1-3	.|SPD2A_HUMAN;.;.;.;.	H|M	318|254;392;364;199;307;259;227	.|ENSP00000392664:V254M;ENSP00000358789:V392M;ENSP00000348215:V364M;ENSP00000443663:V259M;ENSP00000441514:V227M	.|ENSP00000318135:V199M	R|V	-|-	2|1	0|0	SH3PXD2A|SH3PXD2A	105362684|105362684	0.035000|0.035000	0.19736|0.19736	0.449000|0.449000	0.26957|0.26957	0.032000|0.032000	0.12392|0.12392	2.136000|2.136000	0.42121|0.42121	0.321000|0.321000	0.23259|0.23259	-0.311000|-0.311000	0.09066|0.09066	CGT|GTG	SH3PXD2A	-	NULL	ENSG00000107957		0.632	SH3PXD2A-001	KNOWN	basic	protein_coding	SH3PXD2A	HGNC	protein_coding	OTTHUMT00000050178.1	83	0.00	0	C	NM_014631		105372694	105372694	-1	no_errors	ENST00000369774	ensembl	human	known	69_37n	missense	115	12.21	16	SNP	0.023	T
SH3TC1	54436	genome.wustl.edu	37	4	8211494	8211494	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:8211494C>T	ENST00000245105.3	+	3	259	c.192C>T	c.(190-192)cgC>cgT	p.R64R	SH3TC1_ENST00000539824.1_5'UTR	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	64										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CTCCTGCCCGCGTGGCTGGGC	0.622																																					NSCLC(145;2298 2623 35616 37297)	dbGAP											0													37.0	37.0	37.0					4																	8211494		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.192C>T	4.37:g.8211494C>T			Q4W5G5	Silent	SNP	superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.R64	ENST00000245105.3	37	c.192	CCDS3399.1	4																																																																																			SH3TC1	-	NULL	ENSG00000125089		0.622	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	HGNC	protein_coding	OTTHUMT00000206991.2	49	0.00	0	C	NM_018986		8211494	8211494	+1	no_errors	ENST00000245105	ensembl	human	known	69_37n	silent	61	12.68	9	SNP	0.000	T
SH3RF1	57630	genome.wustl.edu	37	4	170038689	170038689	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:170038689T>C	ENST00000284637.9	-	9	2103	c.1762A>G	c.(1762-1764)Aat>Gat	p.N588D	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	588					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CTCACAGCATTGCGGGCCTGG	0.498																																						dbGAP											0													100.0	87.0	91.0					4																	170038689		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1762A>G	4.37:g.170038689T>C	ENSP00000284637:p.Asn588Asp		Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain	p.N588D	ENST00000284637.9	37	c.1762	CCDS34099.1	4	.	.	.	.	.	.	.	.	.	.	T	18.53	3.644274	0.67244	.	.	ENSG00000154447	ENST00000284637	T	0.13901	2.55	5.54	5.54	0.83059	.	0.123969	0.64402	D	0.000001	T	0.12860	0.0312	L	0.58101	1.795	0.58432	D	0.999999	P	0.43094	0.799	B	0.30179	0.112	T	0.11941	-1.0567	10	0.22706	T	0.39	-8.4618	15.6811	0.77371	0.0:0.0:0.0:1.0	.	588	Q7Z6J0	SH3R1_HUMAN	D	588	ENSP00000284637:N588D	ENSP00000284637:N588D	N	-	1	0	SH3RF1	170275264	1.000000	0.71417	0.945000	0.38365	0.968000	0.65278	7.499000	0.81566	2.105000	0.64084	0.459000	0.35465	AAT	SH3RF1	-	NULL	ENSG00000154447		0.498	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3RF1	HGNC	protein_coding	OTTHUMT00000363382.3	147	0.68	1	T	NM_020870		170038689	170038689	-1	no_errors	ENST00000284637	ensembl	human	known	69_37n	missense	103	16.94	21	SNP	1.000	C
SHANK1	50944	genome.wustl.edu	37	19	51207712	51207712	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:51207712G>C	ENST00000293441.1	-	8	1155	c.1137C>G	c.(1135-1137)aaC>aaG	p.N379K	SHANK1_ENST00000359082.3_Missense_Mutation_p.N379K|SHANK1_ENST00000391814.1_Missense_Mutation_p.N379K	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	379					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGGTCTGTCCGTTGTTGTTCT	0.572																																						dbGAP											0													121.0	106.0	111.0					19																	51207712		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1137C>G	19.37:g.51207712G>C	ENSP00000293441:p.Asn379Lys		A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.N379K	ENST00000293441.1	37	c.1137	CCDS12799.1	19	.	.	.	.	.	.	.	.	.	.	G	12.00	1.808049	0.31961	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.65178	-0.14;-0.14;-0.14	5.07	-9.19	0.00685	Ankyrin repeat-containing domain (4);	0.385199	0.19489	U	0.113025	T	0.43255	0.1239	N	0.17723	0.515	0.29823	N	0.830677	P	0.44946	0.846	B	0.43155	0.41	T	0.57602	-0.7783	10	0.45353	T	0.12	-1.8715	16.878	0.86057	0.8197:0.0:0.1803:0.0	.	379	Q9Y566	SHAN1_HUMAN	K	379	ENSP00000293441:N379K;ENSP00000351984:N379K;ENSP00000375690:N379K	ENSP00000293441:N379K	N	-	3	2	SHANK1	55899524	0.000000	0.05858	0.181000	0.23098	0.962000	0.63368	-1.893000	0.01609	-1.956000	0.01022	0.456000	0.33151	AAC	SHANK1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000161681		0.572	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	HGNC	protein_coding	OTTHUMT00000268071.1	126	0.00	0	G	NM_016148		51207712	51207712	-1	no_errors	ENST00000391814	ensembl	human	known	69_37n	missense	175	11.11	22	SNP	0.347	C
SIGLEC1	6614	genome.wustl.edu	37	20	3682158	3682158	+	Silent	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:3682158G>T	ENST00000344754.4	-	6	1358	c.1359C>A	c.(1357-1359)gcC>gcA	p.A453A	SIGLEC1_ENST00000202578.4_Silent_p.A453A	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	453	Ig-like C2-type 4.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CGGAGGTGGAGGCCAGGATAT	0.617																																						dbGAP											0													92.0	71.0	78.0					20																	3682158		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""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"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1359C>A	20.37:g.3682158G>T			Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	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.A453	ENST00000344754.4	37	c.1359	CCDS13060.1	20																																																																																			SIGLEC1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000088827		0.617	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	48	0.00	0	G	NM_023068		3682158	3682158	-1	no_errors	ENST00000344754	ensembl	human	known	69_37n	silent	114	10.94	14	SNP	1.000	T
SIRT4	23409	genome.wustl.edu	37	12	120750862	120750862	+	3'UTR	SNP	C	C	A	rs199669120		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:120750862C>A	ENST00000202967.4	+	0	1027				RNU6-1088P_ENST00000516850.1_RNA|SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATTCCAGAACCTGGAACAGGG	0.463																																						dbGAP											0													114.0	105.0	108.0					12																	120750862		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4"", ""sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"""			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.*23C>A	12.37:g.120750862C>A				RNA	SNP	-	NULL	ENST00000202967.4	37	NULL	CCDS9194.1	12																																																																																			SIRT4	-	-	ENSG00000089163		0.463	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT4	HGNC	protein_coding	OTTHUMT00000402003.1	131	0.00	0	C	NM_012240		120750862	120750862	+1	no_errors	ENST00000537892	ensembl	human	known	69_37n	rna	90	35.71	50	SNP	0.000	A
SIX6	4990	genome.wustl.edu	37	14	60977825	60977825	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:60977825A>C	ENST00000327720.5	+	2	1044	c.596A>C	c.(595-597)cAg>cCg	p.Q199P		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	199					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		GTCCTGTCACAGGGTTCCGGG	0.701																																						dbGAP											0													17.0	17.0	17.0					14																	60977825		2178	4270	6448	-	-	-	SO:0001583	missense	0			AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"""Homeoboxes / SINE class"""	10892	protein-coding gene	gene with protein product		606326	"""sine oculis homeobox (Drosophila) homolog 6"", ""sine oculis homeobox homolog 6 (Drosophila)"""	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.596A>C	14.37:g.60977825A>C	ENSP00000328596:p.Gln199Pro		Q6NT42|Q9P1X8	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.Q199P	ENST00000327720.5	37	c.596	CCDS9747.1	14	.	.	.	.	.	.	.	.	.	.	A	12.08	1.832097	0.32421	.	.	ENSG00000184302	ENST00000327720	D	0.91351	-2.83	5.39	4.22	0.49857	.	0.170580	0.52532	D	0.000062	D	0.82669	0.5087	L	0.28115	0.83	0.47153	D	0.999337	B	0.02656	0.0	B	0.01281	0.0	T	0.74618	-0.3605	10	0.20046	T	0.44	.	10.898	0.47034	0.8593:0.0:0.0:0.1407	.	199	O95475	SIX6_HUMAN	P	199	ENSP00000328596:Q199P	ENSP00000328596:Q199P	Q	+	2	0	SIX6	60047578	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	3.083000	0.50136	1.015000	0.39444	0.533000	0.62120	CAG	SIX6	-	NULL	ENSG00000184302		0.701	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX6	HGNC	protein_coding	OTTHUMT00000276952.2	16	0.00	0	A			60977825	60977825	+1	no_errors	ENST00000327720	ensembl	human	known	69_37n	missense	15	21.05	4	SNP	1.000	C
SLC14A1	6563	genome.wustl.edu	37	18	43319182	43319182	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr18:43319182T>C	ENST00000321925.4	+	7	950	c.718T>C	c.(718-720)Tgg>Cgg	p.W240R	SLC14A1_ENST00000535474.1_Missense_Mutation_p.W108R|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000502059.2_Missense_Mutation_p.W132R|SLC14A1_ENST00000436407.3_Missense_Mutation_p.W296R|SLC14A1_ENST00000591541.1_5'Flank|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000402943.2_Missense_Mutation_p.W135R|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000589700.1_Intron|SLC14A1_ENST00000415427.3_Missense_Mutation_p.W296R|SLC14A1_ENST00000586142.1_Missense_Mutation_p.W240R	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	240					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TGATAATCCATGGACAGGGGG	0.478																																						dbGAP											0													152.0	149.0	150.0					18																	43319182		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"""Blood group antigens"", ""Solute carriers"""	10918	protein-coding gene	gene with protein product		613868	"""Kidd blood group"", ""solute carrier family 14 (urea transporter), member 1"""	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.718T>C	18.37:g.43319182T>C	ENSP00000318546:p.Trp240Arg		A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	pfam_Urea_transporter	p.W296R	ENST00000321925.4	37	c.886	CCDS11925.1	18	.	.	.	.	.	.	.	.	.	.	t	20.8	4.055137	0.75960	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000502059;ENST00000402943;ENST00000535474;ENST00000436407	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000002	T	0.76976	0.4063	M	0.93939	3.475	0.80722	D	1	D;B;B	0.89917	1.0;0.222;0.442	D;B;P	0.91635	0.999;0.364;0.522	D	0.83533	0.0092	10	0.72032	D	0.01	-8.6839	15.9584	0.79906	0.0:0.0:0.0:1.0	.	296;132;240	Q13336-2;B3KXJ3;Q13336	.;.;UT1_HUMAN	R	240;296;132;135;108;296	ENSP00000318546:W240R;ENSP00000412309:W296R;ENSP00000442180:W132R;ENSP00000385320:W135R;ENSP00000441998:W108R;ENSP00000390637:W296R	ENSP00000318546:W240R	W	+	1	0	SLC14A1	41573180	1.000000	0.71417	0.933000	0.37362	0.696000	0.40369	5.633000	0.67825	2.165000	0.68154	0.524000	0.50904	TGG	SLC14A1	-	pfam_Urea_transporter	ENSG00000141469		0.478	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC14A1	HGNC	protein_coding	OTTHUMT00000255860.2	166	0.00	0	T	NM_015865		43319182	43319182	+1	no_errors	ENST00000415427	ensembl	human	known	69_37n	missense	47	14.55	8	SNP	0.999	C
SLC1A6	6511	genome.wustl.edu	37	19	15082642	15082642	+	Missense_Mutation	SNP	G	G	T	rs373316134		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:15082642G>T	ENST00000221742.3	-	2	257	c.250C>A	c.(250-252)Cgc>Agc	p.R84S	SLC1A6_ENST00000430939.2_Missense_Mutation_p.P88Q|SLC1A6_ENST00000600144.1_Missense_Mutation_p.R84S|SLC1A6_ENST00000598504.1_Missense_Mutation_p.R84S|SLC1A6_ENST00000544886.2_Missense_Mutation_p.R84S	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	84					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						TTGATCTGGCGGTAGGTGAGC	0.567																																						dbGAP											0													130.0	116.0	120.0					19																	15082642		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.250C>A	19.37:g.15082642G>T	ENSP00000221742:p.Arg84Ser		Q8N753	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.R84S	ENST00000221742.3	37	c.250	CCDS12321.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.09|17.09	3.299809|3.299809	0.60195|0.60195	.|.	.|.	ENSG00000105143|ENSG00000105143	ENST00000430939|ENST00000221742;ENST00000544886;ENST00000542610	T|T;T	0.75589|0.57907	-0.95|0.37;0.37	4.26|4.26	4.26|4.26	0.50523|0.50523	.|.	.|0.116150	.|0.56097	.|D	.|0.000031	T|T	0.59865|0.59865	0.2225|0.2225	L|L	0.52126|0.52126	1.63|1.63	0.46981|0.46981	D|D	0.999279|0.999279	B|D;D;B	0.20459|0.76494	0.045|0.997;0.999;0.257	B|D;D;B	0.23574|0.78314	0.047|0.961;0.991;0.256	T|T	0.54866|0.54866	-0.8229|-0.8229	9|10	0.52906|0.12430	T|T	0.07|0.62	-11.8749|-11.8749	9.4412|9.4412	0.38670|0.38670	0.0:0.0:0.7883:0.2117|0.0:0.0:0.7883:0.2117	.|.	88|84;85;84	E7EV13|Q8N753;Q59GB0;P48664	.|.;.;EAA4_HUMAN	Q|S	88|84;84;85	ENSP00000409386:P88Q|ENSP00000221742:R84S;ENSP00000446175:R84S	ENSP00000409386:P88Q|ENSP00000221742:R84S	P|R	-|-	2|1	0|0	SLC1A6|SLC1A6	14943642|14943642	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	2.457000|2.457000	0.45005|0.45005	2.190000|2.190000	0.69967|0.69967	0.561000|0.561000	0.74099|0.74099	CCG|CGC	SLC1A6	-	pfam_Na-dicarboxylate_symporter	ENSG00000105143		0.567	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC1A6	HGNC	protein_coding	OTTHUMT00000466283.1	235	0.00	0	G	NM_005071		15082642	15082642	-1	no_errors	ENST00000221742	ensembl	human	known	69_37n	missense	276	10.97	34	SNP	0.999	T
SLC25A31	83447	genome.wustl.edu	37	4	128694625	128694625	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:128694625C>T	ENST00000281154.4	+	6	1012	c.844C>T	c.(844-846)Cgt>Tgt	p.R282C		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	282					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						TTCCTTTTTTCGTGGCGCCTT	0.383																																						dbGAP											0													153.0	143.0	146.0					4																	128694625		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"""Solute carriers"""	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.844C>T	4.37:g.128694625C>T	ENSP00000281154:p.Arg282Cys			Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,prints_Mit_carrier,prints_Aden_trnslctor,pfscan_Mitochondrial_sb/sol_carrier	p.R282C	ENST00000281154.4	37	c.844	CCDS3733.1	4	.	.	.	.	.	.	.	.	.	.	C	15.82	2.944762	0.53079	.	.	ENSG00000151475	ENST00000281154	D	0.82344	-1.6	5.52	5.52	0.82312	Mitochondrial carrier domain (2);	0.106353	0.42964	D	0.000627	D	0.92401	0.7588	M	0.92738	3.34	0.43342	D	0.995394	D	0.89917	1.0	D	0.67725	0.953	D	0.93478	0.6825	10	0.87932	D	0	-11.7765	14.113	0.65134	0.1502:0.8498:0.0:0.0	.	282	Q9H0C2	ADT4_HUMAN	C	282	ENSP00000281154:R282C	ENSP00000281154:R282C	R	+	1	0	SLC25A31	128914075	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	3.018000	0.49625	2.871000	0.98454	0.637000	0.83480	CGT	SLC25A31	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000151475		0.383	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A31	HGNC	protein_coding	OTTHUMT00000257094.2	326	0.31	1	C	NM_031291		128694625	128694625	+1	no_errors	ENST00000281154	ensembl	human	known	69_37n	missense	167	24.09	53	SNP	1.000	T
SLC25A40	55972	genome.wustl.edu	37	7	87485619	87485619	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:87485619G>T	ENST00000341119.5	-	4	491	c.145C>A	c.(145-147)Cca>Aca	p.P49T		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	49					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TTGGGGAGTGGGTTGTTTTGG	0.343																																						dbGAP											0													185.0	173.0	177.0					7																	87485619		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"""Solute carriers"""	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.145C>A	7.37:g.87485619G>T	ENSP00000344831:p.Pro49Thr		A8K483|D6W5P6|Q53GB1|Q9UHR1	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,prints_Mit_carrier,pfscan_Mitochondrial_sb/sol_carrier	p.P49T	ENST00000341119.5	37	c.145	CCDS5610.1	7	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769700	0.49680	.	.	ENSG00000075303	ENST00000341119	T	0.78595	-1.19	5.73	3.9	0.45041	Mitochondrial carrier domain (2);	0.105116	0.64402	D	0.000003	T	0.73110	0.3545	M	0.62088	1.915	0.51767	D	0.999933	B	0.18610	0.029	B	0.22152	0.038	T	0.65721	-0.6099	10	0.27082	T	0.32	-16.3417	11.3915	0.49817	0.068:0.1267:0.8053:0.0	.	49	Q8TBP6	S2540_HUMAN	T	49	ENSP00000344831:P49T	ENSP00000344831:P49T	P	-	1	0	SLC25A40	87323555	1.000000	0.71417	0.009000	0.14445	0.967000	0.64934	4.385000	0.59613	0.740000	0.32651	0.655000	0.94253	CCA	SLC25A40	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000075303		0.343	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A40	HGNC	protein_coding	OTTHUMT00000253677.5	228	0.00	0	G	NM_018843		87485619	87485619	-1	no_errors	ENST00000341119	ensembl	human	known	69_37n	missense	213	11.89	29	SNP	0.964	T
SLC25A47	283600	genome.wustl.edu	37	14	100795262	100795262	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:100795262G>A	ENST00000361529.3	+	5	605	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	SLC25A47_ENST00000557052.1_Missense_Mutation_p.C30Y	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	176					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GAGGGGCTGTGCGGCCTCTAC	0.682																																					GBM(11;1289 1351)	dbGAP											0													40.0	36.0	37.0					14																	100795262		2203	4296	6499	-	-	-	SO:0001583	missense	0				CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"""Solute carriers"""	20115	protein-coding gene	gene with protein product		609911	"""chromosome 14 open reading frame 68"""	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.527G>A	14.37:g.100795262G>A	ENSP00000354886:p.Cys176Tyr		B2RP39|Q68CL2|Q6PZD8|Q86U14	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.C176Y	ENST00000361529.3	37	c.527	CCDS9959.1	14	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.384840	0.00202	.	.	ENSG00000140107	ENST00000361529;ENST00000557052	T;T	0.77750	-1.12;-1.12	4.89	1.86	0.25419	Mitochondrial carrier domain (2);	0.697094	0.14740	N	0.301247	T	0.58352	0.2116	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42649	-0.9439	10	0.34782	T	0.22	-0.0762	2.8636	0.05594	0.1583:0.1418:0.5539:0.1461	.	176	Q6Q0C1	S2547_HUMAN	Y	176;30	ENSP00000354886:C176Y;ENSP00000451078:C30Y	ENSP00000354886:C176Y	C	+	2	0	SLC25A47	99865015	0.000000	0.05858	0.026000	0.17262	0.074000	0.17049	0.704000	0.25661	0.485000	0.27652	0.491000	0.48974	TGC	SLC25A47	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000140107		0.682	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A47	HGNC	protein_coding	OTTHUMT00000414231.1	32	0.00	0	G			100795262	100795262	+1	no_errors	ENST00000361529	ensembl	human	known	69_37n	missense	43	10.42	5	SNP	0.000	A
SLC2A2	6514	genome.wustl.edu	37	3	170716096	170716097	+	Frame_Shift_Ins	INS	-	-	T	rs121909745		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:170716096_170716097insT	ENST00000314251.3	-	10	1338_1339	c.1259_1260insA	c.(1258-1260)tggfs	p.W420fs	SLC2A2_ENST00000382808.4_Frame_Shift_Ins_p.W301fs	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	420					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	CCACCATGAACCAGGGGATCGG	0.45																																						dbGAP											0			GRCh37	CM000426	SLC2A2	M	rs121909745																																			-	-	-	SO:0001589	frameshift_variant	0			J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.1259_1260insA	3.37:g.170716096_170716097insT	ENSP00000323568:p.Trp420fs		A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Frame_Shift_Ins	INS	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glc_transpt_2,tigrfam_Sugar/inositol_transpt	p.W420fs	ENST00000314251.3	37	c.1260_1259	CCDS3215.1	3																																																																																			SLC2A2	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	ENSG00000163581		0.450	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A2	HGNC	protein_coding	OTTHUMT00000352834.1	56	0.00	0	-	NM_000340		170716096	170716097	-1	no_errors	ENST00000314251	ensembl	human	known	69_37n	frame_shift_ins	6	25.00	2	INS	1.000:1.000	T
SLC2A6	11182	genome.wustl.edu	37	9	136337282	136337282	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:136337282T>G	ENST00000371899.4	-	10	1462	c.1385A>C	c.(1384-1386)cAg>cCg	p.Q462P	SLC2A6_ENST00000371897.4_Missense_Mutation_p.Q400P|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	462					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GAAAGGCACCTGGAGGCCGAA	0.652																																						dbGAP											0													78.0	83.0	81.0					9																	136337282		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"""Solute carriers"""	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.1385A>C	9.37:g.136337282T>G	ENSP00000360966:p.Gln462Pro		A6NNU6|Q5SXD7|Q8NCC2	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.Q462P	ENST00000371899.4	37	c.1385	CCDS6975.1	9	.	.	.	.	.	.	.	.	.	.	T	19.09	3.759450	0.69763	.	.	ENSG00000160326	ENST00000371897;ENST00000371899	T;T	0.73258	0.3;-0.73	5.3	5.3	0.74995	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.344194	0.27778	N	0.017891	T	0.63129	0.2485	L	0.28740	0.885	0.32447	N	0.545901	B;P	0.37122	0.256;0.583	B;B	0.40702	0.132;0.338	T	0.70781	-0.4779	10	0.34782	T	0.22	.	14.4687	0.67501	0.0:0.0:0.0:1.0	.	400;462	Q9UGQ3-2;Q9UGQ3	.;GTR6_HUMAN	P	400;462	ENSP00000360964:Q400P;ENSP00000360966:Q462P	ENSP00000360964:Q400P	Q	-	2	0	SLC2A6	135327103	1.000000	0.71417	0.988000	0.46212	0.761000	0.43186	5.404000	0.66344	2.033000	0.60031	0.529000	0.55759	CAG	SLC2A6	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	ENSG00000160326		0.652	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A6	HGNC	protein_coding	OTTHUMT00000054909.1	82	0.00	0	T	NM_017585		136337282	136337282	-1	no_errors	ENST00000371899	ensembl	human	known	69_37n	missense	130	13.33	20	SNP	0.995	G
SLC30A7	148867	genome.wustl.edu	37	1	101377672	101377672	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:101377672C>T	ENST00000370112.4	+	5	576	c.389C>T	c.(388-390)gCa>gTa	p.A130V	SLC30A7_ENST00000357650.4_Missense_Mutation_p.A130V	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	130					cellular protein metabolic process (GO:0044267)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	cation transmembrane transporter activity (GO:0008324)			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TTCTAGAGAGCATTAGCCCCT	0.333																																					NSCLC(91;473 1491 3102 16827 21633)	dbGAP											0													234.0	225.0	228.0					1																	101377672		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695		"""Solute carriers"""	19306	protein-coding gene	gene with protein product		611149				12446736	Standard	NM_133496		Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.389C>T	1.37:g.101377672C>T	ENSP00000359130:p.Ala130Val		B2R949|D3DT61|Q8TCH2	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.A130V	ENST00000370112.4	37	c.389	CCDS776.1	1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965882	0.53507	.	.	ENSG00000162695	ENST00000370112;ENST00000357650	T;T	0.62105	0.05;0.05	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.54013	0.1832	L	0.36672	1.1	0.80722	D	1	P	0.41978	0.767	P	0.46299	0.511	T	0.59804	-0.7385	10	0.62326	D	0.03	-8.3868	19.4322	0.94775	0.0:1.0:0.0:0.0	.	130	Q8NEW0	ZNT7_HUMAN	V	130	ENSP00000359130:A130V;ENSP00000350278:A130V	ENSP00000350278:A130V	A	+	2	0	SLC30A7	101150260	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.241000	0.78201	2.652000	0.90054	0.603000	0.83216	GCA	SLC30A7	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000162695		0.333	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	SLC30A7	HGNC	protein_coding	OTTHUMT00000032711.1	194	0.00	0	C	NM_133496		101377672	101377672	+1	no_errors	ENST00000357650	ensembl	human	known	69_37n	missense	54	11.48	7	SNP	1.000	T
SLC44A4	80736	genome.wustl.edu	37	6	31842459	31842459	+	Intron	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:31842459C>A	ENST00000229729.6	-	6	489				SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000544672.1_Intron|SLC44A4_ENST00000375562.4_Intron	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4						acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CACCCTGGCCCTTCTGGGCGA	0.557																																						dbGAP											0													56.0	53.0	54.0					6																	31842459		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.468+38G>T	6.37:g.31842459C>A			A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	RNA	SNP	-	NULL	ENST00000229729.6	37	NULL	CCDS4724.2	6																																																																																			SLC44A4	-	-	ENSG00000204385		0.557	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SLC44A4	HGNC	protein_coding	OTTHUMT00000076234.3	60	0.00	0	C			31842459	31842459	-1	no_errors	ENST00000465707	ensembl	human	known	69_37n	rna	71	16.47	14	SNP	0.004	A
SLC4A11	83959	genome.wustl.edu	37	20	3214190	3214190	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:3214190G>A	ENST00000380056.3	-	6	794	c.747C>T	c.(745-747)ttC>ttT	p.F249F	SLC4A11_ENST00000539553.2_Silent_p.F233F|SLC4A11_ENST00000380059.3_Silent_p.F276F	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	249					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CCAGGATGACGAACCGAACCT	0.637																																					NSCLC(190;922 2139 10266 10292 38692)	dbGAP											0													96.0	85.0	89.0					20																	3214190		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.747C>T	20.37:g.3214190G>A			B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	pfam_HCO3_transpt_C,pfam_PTS_EIIA_2,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk	p.F276	ENST00000380056.3	37	c.828	CCDS13052.1	20																																																																																			SLC4A11	-	pfam_PTS_EIIA_2,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk	ENSG00000088836		0.637	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	SLC4A11	HGNC	protein_coding	OTTHUMT00000077728.1	165	0.00	0	G			3214190	3214190	-1	no_errors	ENST00000380059	ensembl	human	known	69_37n	silent	226	17.52	48	SNP	0.870	A
SLC52A1	55065	genome.wustl.edu	37	17	4936307	4936307	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:4936307C>T	ENST00000424747.1	-	5	2004	c.1292G>A	c.(1291-1293)aGc>aAc	p.S431N	SLC52A1_ENST00000512825.2_3'UTR|SLC52A1_ENST00000254853.5_Missense_Mutation_p.S431N	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	431					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)										GTGGTAGATGCTGGTGGGAGG	0.632																																						dbGAP											0													78.0	79.0	79.0					17																	4936307		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"""Solute carriers"""	30225	protein-coding gene	gene with protein product	"""riboflavin transporter 1"""	607883	"""G protein-coupled receptor 172B"""	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.1292G>A	17.37:g.4936307C>T	ENSP00000399979:p.Ser431Asn		B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Missense_Mutation	SNP	pfam_Endogenous_retrovirus_rcpt	p.S431N	ENST00000424747.1	37	c.1292	CCDS11066.1	17	.	.	.	.	.	.	.	.	.	.	C	0.081	-1.183532	0.01620	.	.	ENSG00000132517	ENST00000254853;ENST00000424747	T;T	0.71103	-0.54;-0.54	0.913	0.913	0.19354	.	0.048362	0.85682	D	0.000000	T	0.35595	0.0937	N	0.11284	0.12	0.43412	D	0.995557	P	0.37636	0.603	B	0.24974	0.057	T	0.49597	-0.8923	10	0.02654	T	1	.	7.676	0.28486	0.0:1.0:0.0:0.0	.	431	Q9NWF4	RFT_HUMAN	N	431	ENSP00000254853:S431N;ENSP00000399979:S431N	ENSP00000254853:S431N	S	-	2	0	GPR172B	4877031	0.999000	0.42202	0.706000	0.30403	0.215000	0.24574	0.752000	0.26362	0.784000	0.33661	0.655000	0.94253	AGC	SLC52A1	-	NULL	ENSG00000132517		0.632	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC52A1	HGNC	protein_coding	OTTHUMT00000216913.1	150	0.00	0	C	NM_017986		4936307	4936307	-1	no_errors	ENST00000254853	ensembl	human	known	69_37n	missense	187	12.62	27	SNP	0.998	T
SLC6A3	6531	genome.wustl.edu	37	5	1432589	1432589	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:1432589C>T	ENST00000270349.9	-	4	770	c.643G>A	c.(643-645)Gag>Aag	p.E215K	SLC6A3_ENST00000453492.2_Missense_Mutation_p.E215K	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	215					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCAAAGTACTCGGCAGCAGGT	0.612																																						dbGAP											0													64.0	59.0	61.0					5																	1432589		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.643G>A	5.37:g.1432589C>T	ENSP00000270349:p.Glu215Lys		A2RUN4|Q14996	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine	p.E215K	ENST00000270349.9	37	c.643	CCDS3863.1	5	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668326	0.88348	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.76968	-1.06;-1.06;-1.06	4.34	4.34	0.51931	.	0.192779	0.43579	D	0.000557	D	0.89305	0.6677	M	0.93106	3.38	0.80722	D	1	D	0.76494	0.999	D	0.62955	0.909	D	0.92002	0.5611	10	0.87932	D	0	.	14.4007	0.67044	0.0:1.0:0.0:0.0	.	215	Q01959	SC6A3_HUMAN	K	215;215;141	ENSP00000270349:E215K;ENSP00000399806:E215K;ENSP00000429101:E141K	ENSP00000270349:E215K	E	-	1	0	SLC6A3	1485589	1.000000	0.71417	0.986000	0.45419	0.788000	0.44548	5.073000	0.64395	2.237000	0.73441	0.591000	0.81541	GAG	SLC6A3	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000142319		0.612	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A3	HGNC	protein_coding	OTTHUMT00000253650.3	117	0.00	0	C	NM_001044		1432589	1432589	-1	no_errors	ENST00000270349	ensembl	human	known	69_37n	missense	174	14.29	29	SNP	1.000	T
SLC6A5	9152	genome.wustl.edu	37	11	20636289	20636289	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:20636289T>C	ENST00000525748.1	+	6	1323	c.1050T>C	c.(1048-1050)gcT>gcC	p.A350A		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	350					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GCATGACCGCTTATCCCAACG	0.398																																						dbGAP											0													183.0	163.0	170.0					11																	20636289		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1050T>C	11.37:g.20636289T>C			O95288|Q4VAM7|Q9BX77	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.A350	ENST00000525748.1	37	c.1050	CCDS7854.1	11																																																																																			SLC6A5	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000165970		0.398	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A5	HGNC	protein_coding	OTTHUMT00000387497.2	270	0.00	0	T	NM_004211		20636289	20636289	+1	no_errors	ENST00000525748	ensembl	human	known	69_37n	silent	147	14.94	26	SNP	1.000	C
SLC6A6	6533	genome.wustl.edu	37	3	14509669	14509669	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:14509669G>A	ENST00000454876.2	+	9	1374	c.1045G>A	c.(1045-1047)Ggc>Agc	p.G349S	SLC6A6_ENST00000360861.3_Missense_Mutation_p.G349S			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	349					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TTCCATCCTGGGCTTCATGGC	0.527											OREG0015421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													155.0	142.0	146.0					3																	14509669		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1045G>A	3.37:g.14509669G>A	ENSP00000398063:p.Gly349Ser	695	B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine	p.G349S	ENST00000454876.2	37	c.1045	CCDS33705.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.412790	0.96072	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	D;D	0.87491	-2.26;-2.26	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.96479	0.8851	H	0.98629	4.285	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98266	1.0501	10	0.87932	D	0	.	18.7402	0.91770	0.0:0.0:1.0:0.0	.	349	P31641	SC6A6_HUMAN	S	349	ENSP00000398063:G349S;ENSP00000354107:G349S	ENSP00000354107:G349S	G	+	1	0	SLC6A6	14484673	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	2.418000	0.82041	0.467000	0.42956	GGC	SLC6A6	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000131389		0.527	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A6	HGNC	protein_coding	OTTHUMT00000340507.1	468	0.00	0	G	NM_003043		14509669	14509669	+1	no_errors	ENST00000360861	ensembl	human	known	69_37n	missense	500	10.32	58	SNP	1.000	A
SLC6A8	6535	genome.wustl.edu	37	X	152955960	152955960	+	Splice_Site	SNP	A	A	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:152955960A>T	ENST00000253122.5	+	2	869	c.393A>T	c.(391-393)aaA>aaT	p.K131N	SLC6A8_ENST00000430077.2_Splice_Site_p.K16N	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	131					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CCCTGTTCAAAGGTGAGCAGC	0.577																																						dbGAP											0													41.0	29.0	33.0					X																	152955960		2189	4277	6466	-	-	-	SO:0001630	splice_region_variant	0				CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.394+1A>T	X.37:g.152955960A>T			B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_creatine	p.K131N	ENST00000253122.5	37	c.393	CCDS14726.1	X	.	.	.	.	.	.	.	.	.	.	a	20.2	3.958134	0.73902	.	.	ENSG00000130821	ENST00000253122;ENST00000430077	T;T	0.76060	-0.99;-0.99	4.25	4.25	0.50352	.	.	.	.	.	D	0.89086	0.6615	H	0.96398	3.815	0.54753	D	0.999989	D;P;D	0.57257	0.979;0.887;0.958	D;P;P	0.66979	0.948;0.648;0.836	D	0.91411	0.5151	9	0.72032	D	0.01	.	11.5679	0.50815	1.0:0.0:0.0:0.0	.	131;150;131	D3DWV2;Q59EV7;P48029	.;.;SC6A8_HUMAN	N	131;16	ENSP00000253122:K131N;ENSP00000403041:K16N	ENSP00000253122:K131N	K	+	3	2	SLC6A8	152609154	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.889000	0.39718	1.566000	0.49654	0.356000	0.21956	AAA	SLC6A8	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000130821		0.577	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A8	HGNC	protein_coding	OTTHUMT00000061003.1	193	0.00	0	A		Missense_Mutation	152955960	152955960	+1	no_errors	ENST00000253122	ensembl	human	known	69_37n	missense	230	14.81	40	SNP	1.000	T
SLC7A9	11136	genome.wustl.edu	37	19	33353088	33353088	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:33353088C>T	ENST00000023064.4	-	6	831	c.640G>A	c.(640-642)Gcc>Acc	p.A214T	SLC7A9_ENST00000587772.1_Missense_Mutation_p.A214T|SLC7A9_ENST00000590341.1_Missense_Mutation_p.A214T|RN7SKP22_ENST00000365097.1_RNA	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	214					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GACAGCTGGGCGCCCTCGAAA	0.537																																					GBM(181;1335 2108 9644 44178 46689)	dbGAP											0													84.0	81.0	82.0					19																	33353088		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.640G>A	19.37:g.33353088C>T	ENSP00000023064:p.Ala214Thr		B2R9A6	Missense_Mutation	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.A214T	ENST00000023064.4	37	c.640	CCDS12425.1	19	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.417804	0.01136	.	.	ENSG00000021488	ENST00000023064	D	0.89746	-2.56	5.12	-10.2	0.00374	Amino acid permease domain (1);	0.648563	0.16644	N	0.205504	T	0.52191	0.1719	N	0.01091	-1.02	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.64630	-0.6362	10	0.02654	T	1	.	2.5291	0.04698	0.254:0.1875:0.0839:0.4746	.	214	P82251	BAT1_HUMAN	T	214	ENSP00000023064:A214T	ENSP00000023064:A214T	A	-	1	0	SLC7A9	38044928	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	-3.723000	0.00383	-2.637000	0.00431	-0.254000	0.11334	GCC	SLC7A9	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1	ENSG00000021488		0.537	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A9	HGNC	protein_coding	OTTHUMT00000450585.1	74	0.00	0	C			33353088	33353088	-1	no_errors	ENST00000023064	ensembl	human	known	69_37n	missense	114	18.57	26	SNP	0.000	T
SLC9C2	284525	genome.wustl.edu	37	1	173552700	173552700	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:173552700T>C	ENST00000367714.3	-	6	1007	c.585A>G	c.(583-585)gcA>gcG	p.A195A	SLC9C2_ENST00000536496.1_Silent_p.A93A|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	195					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										AAAAAATTGATGCGATGCTAC	0.299																																						dbGAP											0													55.0	60.0	58.0					1																	173552700		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.585A>G	1.37:g.173552700T>C			Q86UF3	Silent	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.A195	ENST00000367714.3	37	c.585	CCDS1308.1	1																																																																																			SLC9C2	-	pfam_Cation/H_exchanger	ENSG00000162753		0.299	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	41	0.00	0	T	NM_178527		173552700	173552700	-1	no_errors	ENST00000367714	ensembl	human	known	69_37n	silent	18	25.00	6	SNP	0.000	C
SLCO2A1	6578	genome.wustl.edu	37	3	133673861	133673861	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:133673861T>C	ENST00000310926.4	-	4	847	c.574A>G	c.(574-576)Atc>Gtc	p.I192V	SLCO2A1_ENST00000493729.1_Intron|SLCO2A1_ENST00000478651.1_5'Flank	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	192					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	ACATAGGAGATCCCAAATGGC	0.592																																						dbGAP											0													88.0	86.0	87.0					3																	133673861		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.574A>G	3.37:g.133673861T>C	ENSP00000311291:p.Ile192Val		Q86V98|Q8IUN2	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.I192V	ENST00000310926.4	37	c.574	CCDS3084.1	3	.	.	.	.	.	.	.	.	.	.	T	17.22	3.333771	0.60853	.	.	ENSG00000174640	ENST00000310926	T	0.38560	1.13	5.89	5.89	0.94794	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.050067	0.85682	D	0.000000	T	0.54208	0.1844	L	0.41710	1.295	0.80722	D	1	D;D	0.63880	0.976;0.993	P;D	0.63381	0.793;0.914	T	0.52741	-0.8535	10	0.48119	T	0.1	.	16.3123	0.82883	0.0:0.0:0.0:1.0	.	192;192	F8W9W8;Q92959	.;SO2A1_HUMAN	V	192	ENSP00000311291:I192V	ENSP00000311291:I192V	I	-	1	0	SLCO2A1	135156551	1.000000	0.71417	1.000000	0.80357	0.280000	0.26924	4.832000	0.62759	2.254000	0.74563	0.459000	0.35465	ATC	SLCO2A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000174640		0.592	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO2A1	HGNC	protein_coding	OTTHUMT00000357131.1	129	0.00	0	T	NM_005630		133673861	133673861	-1	no_errors	ENST00000310926	ensembl	human	known	69_37n	missense	90	10.00	10	SNP	1.000	C
SLFN13	146857	genome.wustl.edu	37	17	33771867	33771867	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:33771867G>C	ENST00000285013.6	-	3	1108	c.833C>G	c.(832-834)tCt>tGt	p.S278C	SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000526861.1_Missense_Mutation_p.S278C|SLFN13_ENST00000542635.1_Missense_Mutation_p.S278C|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000533791.1_Missense_Mutation_p.S278C	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	278						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGGCAACTTAGAAATTGCTCT	0.403																																						dbGAP											0													144.0	145.0	145.0					17																	33771867		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.833C>G	17.37:g.33771867G>C	ENSP00000285013:p.Ser278Cys		E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.S278C	ENST00000285013.6	37	c.833	CCDS32620.1	17	.	.	.	.	.	.	.	.	.	.	g	10.27	1.302810	0.23736	.	.	ENSG00000154760	ENST00000285013;ENST00000526861;ENST00000542635	T;T;T	0.60040	0.22;0.22;0.22	3.16	-0.924	0.10462	.	1.955520	0.02874	N	0.132061	T	0.53077	0.1774	M	0.64170	1.965	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.38757	-0.9646	10	0.72032	D	0.01	.	3.9673	0.09437	0.1505:0.0:0.2909:0.5586	.	278	Q68D06	SLN13_HUMAN	C	278	ENSP00000285013:S278C;ENSP00000434439:S278C;ENSP00000444016:S278C	ENSP00000285013:S278C	S	-	2	0	SLFN13	30795980	0.000000	0.05858	0.000000	0.03702	0.341000	0.28922	-0.881000	0.04179	-0.292000	0.08999	0.508000	0.49915	TCT	SLFN13	-	pfam_ATPase_AAA-4	ENSG00000154760		0.403	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN13	HGNC	protein_coding	OTTHUMT00000381883.1	117	0.00	0	G	NM_144682		33771867	33771867	-1	no_errors	ENST00000285013	ensembl	human	known	69_37n	missense	109	16.03	21	SNP	0.000	C
SMAD5	4090	genome.wustl.edu	37	5	135489389	135489390	+	3'UTR	INS	-	-	CC			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:135489389_135489390insCC	ENST00000514641.2	+	0	302_303				SMAD5_ENST00000545279.1_5'UTR|SMAD5_ENST00000545620.1_5'UTR			Q99717	SMAD5_HUMAN	SMAD family member 5						BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle contraction (GO:0060048)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|embryonic pattern specification (GO:0009880)|erythrocyte differentiation (GO:0030218)|germ cell development (GO:0007281)|intracellular signal transduction (GO:0035556)|Mullerian duct regression (GO:0001880)|osteoblast fate commitment (GO:0002051)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCACCTGTGATCTGTTCTTTCG	0.421																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			U59913	CCDS75308.1	5q31	2008-02-05	2006-11-06	2004-05-26		ENSG00000113658		"""SMADs"""	6771	protein-coding gene	gene with protein product		603110	"""MAD, mothers against decapentaplegic homolog 5 (Drosophila)"", ""SMAD, mothers against DPP homolog 5 (Drosophila)"""	MADH5		8673135	Standard	NM_005903		Approved	Dwfc, JV5-1	uc003lbl.1	Q99717		ENST00000514641.2:c.*300->CC	5.37:g.135489389_135489390insCC			O14688|Q15798|Q9UQA1	RNA	INS	-	NULL	ENST00000514641.2	37	NULL		5																																																																																			SMAD5	-	-	ENSG00000113658		0.421	SMAD5-001	KNOWN	basic	processed_transcript	SMAD5	HGNC	protein_coding	OTTHUMT00000372096.2	60	0.00	0	-	NM_005903		135489389	135489390	+1	no_errors	ENST00000509962	ensembl	human	known	69_37n	rna	14	12.50	2	INS	0.003:0.002	CC
SMARCA4	6597	genome.wustl.edu	37	19	11134234	11134234	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:11134234G>A	ENST00000429416.3	+	21	3181	c.2900G>A	c.(2899-2901)cGt>cAt	p.R967H	SMARCA4_ENST00000444061.3_Missense_Mutation_p.R967H|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R967H|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R967H|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R967H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R967H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R967H|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R967H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R967H	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	967					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ATCATCCGGCGTCTCCACAAA	0.567			"""F, N, Mis"""		NSCLC																																	dbGAP		Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)											66.0	59.0	62.0					19																	11134234		2203	4300	6503	-	-	-	SO:0001583	missense	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2900G>A	19.37:g.11134234G>A	ENSP00000395654:p.Arg967His		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.R967H	ENST00000429416.3	37	c.2900	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	G	33	5.218981	0.95104	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34	4.9	4.9	0.64082	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.96917	0.8993	M	0.84846	2.72	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.998;1.0;1.0	D	0.97526	1.0076	10	0.87932	D	0	-15.5478	16.9975	0.86372	0.0:0.0:1.0:0.0	.	967;967;967;967;967;187;967;967	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	H	967;967;1031;967;967;967;967;967	ENSP00000395654:R967H;ENSP00000350720:R967H;ENSP00000343896:R967H;ENSP00000445036:R967H;ENSP00000392837:R967H;ENSP00000397783:R967H;ENSP00000414727:R967H	ENSP00000343896:R967H	R	+	2	0	SMARCA4	10995234	1.000000	0.71417	0.477000	0.27303	0.999000	0.98932	9.411000	0.97342	2.542000	0.85734	0.655000	0.94253	CGT	SMARCA4	-	pfam_SNF2_N	ENSG00000127616		0.567	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	141	0.00	0	G	NM_003072		11134234	11134234	+1	no_errors	ENST00000358026	ensembl	human	known	69_37n	missense	234	12.64	34	SNP	1.000	A
SMARCB1	6598	genome.wustl.edu	37	22	24159112	24159112	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr22:24159112G>A	ENST00000263121.7	+	6	980	c.784G>A	c.(784-786)Gtc>Atc	p.V262I	SMARCB1_ENST00000407422.3_Missense_Mutation_p.V253I|SMARCB1_ENST00000407082.3_Missense_Mutation_p.V216I|SMARCB1_ENST00000477836.1_3'UTR|SMARCB1_ENST00000344921.6_Missense_Mutation_p.V271I	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	262	2 X approximate tandem repeats.				ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(3)|p.V262I(1)|p.E210fs*15(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				AGACCAGCGCGTCATCATCAA	0.602			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																																dbGAP	yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""		M	5	Unknown(3)|Substitution - Missense(1)|Deletion - Frameshift(1)	central_nervous_system(3)|ovary(1)|soft_tissue(1)											97.0	73.0	81.0					22																	24159112		2203	4300	6503	-	-	-	SO:0001583	missense	0			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.784G>A	22.37:g.24159112G>A	ENSP00000263121:p.Val262Ile		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx	p.V262I	ENST00000263121.7	37	c.784	CCDS13817.1	22	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452772	0.63290	.	.	ENSG00000099956	ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.77519	0.4142	L	0.31420	0.93	0.80722	D	1	D;D;D	0.59767	0.983;0.986;0.975	P;P;P	0.55055	0.767;0.742;0.742	T	0.74188	-0.3746	10	0.23891	T	0.37	-39.2253	17.8543	0.88758	0.0:0.0:1.0:0.0	.	271;253;262	G5E975;Q17S11;Q12824	.;.;SNF5_HUMAN	I	271;262;253;216	ENSP00000340883:V271I;ENSP00000263121:V262I;ENSP00000383984:V253I;ENSP00000385226:V216I	ENSP00000263121:V262I	V	+	1	0	SMARCB1	22489112	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	9.744000	0.98853	2.546000	0.85860	0.585000	0.79938	GTC	SMARCB1	-	pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx	ENSG00000099956		0.602	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCB1	HGNC	protein_coding	OTTHUMT00000319872.1	156	0.00	0	G	NM_003073		24159112	24159112	+1	no_errors	ENST00000263121	ensembl	human	known	69_37n	missense	86	32.28	41	SNP	1.000	A
SMARCC1	6599	genome.wustl.edu	37	3	47703959	47703959	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:47703959C>T	ENST00000254480.5	-	20	2142	c.2023G>A	c.(2023-2025)Gat>Aat	p.D675N	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	675					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		AGGGAAGCATCTGAATTCTCA	0.483																																						dbGAP											0													90.0	81.0	84.0					3																	47703959		2203	4300	6503	-	-	-	SO:0001583	missense	0			U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2023G>A	3.37:g.47703959C>T	ENSP00000254480:p.Asp675Asn		Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.D675N	ENST00000254480.5	37	c.2023	CCDS2758.1	3	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532005	0.64972	.	.	ENSG00000173473	ENST00000254480	T	0.46819	0.86	5.04	5.04	0.67666	Homeodomain-like (1);	0.050810	0.85682	D	0.000000	T	0.43188	0.1236	L	0.43701	1.375	0.80722	D	1	B	0.22346	0.068	B	0.24541	0.054	T	0.24440	-1.0160	10	0.27082	T	0.32	-25.7948	17.7277	0.88370	0.0:1.0:0.0:0.0	.	675	Q92922	SMRC1_HUMAN	N	675	ENSP00000254480:D675N	ENSP00000254480:D675N	D	-	1	0	SMARCC1	47678963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.627000	0.83176	2.490000	0.84030	0.591000	0.81541	GAT	SMARCC1	-	superfamily_Homeodomain-like	ENSG00000173473		0.483	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCC1	HGNC	protein_coding	OTTHUMT00000257491.1	159	0.00	0	C			47703959	47703959	-1	no_errors	ENST00000254480	ensembl	human	known	69_37n	missense	67	30.21	29	SNP	1.000	T
SMARCE1	6605	genome.wustl.edu	37	17	38788559	38788559	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:38788559C>T	ENST00000348513.6	-	8	1382	c.602G>A	c.(601-603)cGc>cAc	p.R201H	SMARCE1_ENST00000578044.1_Missense_Mutation_p.R131H|SMARCE1_ENST00000377808.4_Missense_Mutation_p.R166H|SMARCE1_ENST00000400122.3_Missense_Mutation_p.R131H|SMARCE1_ENST00000580419.1_Missense_Mutation_p.R166H|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000431889.2_Missense_Mutation_p.R183H|SMARCE1_ENST00000544009.1_Missense_Mutation_p.R131H	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	201					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				ACTGATGAGGCGGTGGTTTCT	0.478																																						dbGAP											0													90.0	84.0	86.0					17																	38788559		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.602G>A	17.37:g.38788559C>T	ENSP00000323967:p.Arg201His		B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R201H	ENST00000348513.6	37	c.602	CCDS11370.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.417321|4.417321	0.83449|0.83449	.|.	.|.	ENSG00000073584|ENSG00000073584	ENST00000400122|ENST00000348513;ENST00000544009;ENST00000431889;ENST00000377808	.|T;T;T	.|0.56941	.|0.43;0.43;2.26	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50803|0.50803	0.1637|0.1637	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.26445	.|0.033;0.149;0.033	.|B;B;B	.|0.15052	.|0.005;0.012;0.005	T|T	0.48305|0.48305	-0.9047|-0.9047	5|10	.|0.59425	.|D	.|0.04	.|.	20.0572|20.0572	0.97657|0.97657	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|166;166;201	.|C0IMW5;C0IMW4;Q969G3	.|.;.;SMCE1_HUMAN	T|H	27|201;131;183;166	.|ENSP00000323967:R201H;ENSP00000445370:R183H;ENSP00000367039:R166H	.|ENSP00000323967:R201H	A|R	-|-	1|2	0|0	SMARCE1|SMARCE1	36042085|36042085	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.656000|4.656000	0.61483|0.61483	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GCC|CGC	SMARCE1	-	NULL	ENSG00000073584		0.478	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCE1	HGNC	protein_coding	OTTHUMT00000257203.1	202	0.00	0	C	NM_003079		38788559	38788559	-1	no_errors	ENST00000348513	ensembl	human	known	69_37n	missense	25	16.67	5	SNP	1.000	T
SMC1A	8243	genome.wustl.edu	37	X	53409197	53409197	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:53409197C>T	ENST00000322213.4	-	22	3520	c.3393G>A	c.(3391-3393)ggG>ggA	p.G1131G	SMC1A_ENST00000469129.1_5'UTR	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	1131	Ala/Asp-rich (DA-box).				DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CTGTCTTCTCCCCGCCTGACA	0.577																																						dbGAP											0													74.0	56.0	62.0					X																	53409197		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.3393G>A	X.37:g.53409197C>T			O14995|Q16351|Q2M228	Silent	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin	p.G1131	ENST00000322213.4	37	c.3393	CCDS14352.1	X																																																																																			SMC1A	-	pfam_RecF/RecN/SMC	ENSG00000072501		0.577	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1A	HGNC	protein_coding	OTTHUMT00000056756.2	151	0.00	0	C	NM_006306		53409197	53409197	-1	no_errors	ENST00000322213	ensembl	human	known	69_37n	silent	63	17.11	13	SNP	0.995	T
SMC6	79677	genome.wustl.edu	37	2	17888625	17888625	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:17888625C>A	ENST00000448223.2	-	18	2136	c.1867G>T	c.(1867-1869)Gta>Tta	p.V623L	SMC6_ENST00000381272.4_Missense_Mutation_p.V649L|SMC6_ENST00000402989.1_Missense_Mutation_p.V623L|SMC6_ENST00000351948.4_Missense_Mutation_p.V623L	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	623	Flexible hinge.				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GACTGCATTACTGCACGAGCT	0.323																																						dbGAP											0													81.0	79.0	80.0					2																	17888625		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1867G>T	2.37:g.17888625C>A	ENSP00000404092:p.Val623Leu		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	NULL	p.V649L	ENST00000448223.2	37	c.1945	CCDS1690.1	2	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320551	0.60634	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.31510	2.59;2.59;2.59;2.59;1.49	6.02	2.1	0.27182	RecF/RecN/SMC (1);	0.169666	0.52532	D	0.000079	T	0.22322	0.0538	L	0.38531	1.155	0.46396	D	0.999026	B;B;B	0.32781	0.384;0.001;0.046	B;B;B	0.39971	0.315;0.01;0.14	T	0.03443	-1.1036	10	0.14252	T	0.57	.	5.5438	0.17053	0.128:0.6081:0.0:0.2639	.	649;649;623	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	L	623;623;649;623;649	ENSP00000404092:V623L;ENSP00000323439:V623L;ENSP00000370672:V649L;ENSP00000384539:V623L;ENSP00000408644:V649L	ENSP00000323439:V623L	V	-	1	0	SMC6	17752106	0.951000	0.32395	0.997000	0.53966	0.958000	0.62258	1.550000	0.36223	0.882000	0.36016	0.650000	0.86243	GTA	SMC6	-	NULL	ENSG00000163029		0.323	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC6	HGNC	protein_coding	OTTHUMT00000207359.1	67	0.00	0	C	NM_024624		17888625	17888625	-1	no_errors	ENST00000381272	ensembl	human	known	69_37n	missense	15	31.82	7	SNP	0.942	A
SMCR8	140775	genome.wustl.edu	37	17	18225993	18225993	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:18225993G>A	ENST00000406438.3	+	2	2903	c.2423G>A	c.(2422-2424)aGc>aAc	p.S808N	RP1-178F10.3_ENST00000577764.1_lincRNA	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	808						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CGCTACACGAGCATCCTGGAC	0.647																																						dbGAP											0													52.0	60.0	57.0					17																	18225993		2057	4193	6250	-	-	-	SO:0001583	missense	0			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.2423G>A	17.37:g.18225993G>A	ENSP00000385025:p.Ser808Asn		A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	pfam_Folliculin	p.S808N	ENST00000406438.3	37	c.2423	CCDS11195.2	17	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298343	0.81025	.	.	ENSG00000176994	ENST00000406438	T	0.43688	0.94	5.05	5.05	0.67936	.	0.146393	0.41097	U	0.000957	T	0.63510	0.2517	M	0.66939	2.045	0.46437	D	0.999042	D	0.89917	1.0	D	0.66716	0.946	T	0.66810	-0.5829	10	0.72032	D	0.01	-13.3566	18.7827	0.91941	0.0:0.0:1.0:0.0	.	808	Q8TEV9	SMCR8_HUMAN	N	808	ENSP00000385025:S808N	ENSP00000385025:S808N	S	+	2	0	SMCR8	18166718	1.000000	0.71417	0.998000	0.56505	0.864000	0.49448	7.007000	0.76335	2.529000	0.85273	0.563000	0.77884	AGC	SMCR8	-	NULL	ENSG00000176994		0.647	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR8	HGNC	protein_coding	OTTHUMT00000132065.2	141	0.00	0	G	NM_144775		18225993	18225993	+1	no_errors	ENST00000406438	ensembl	human	known	69_37n	missense	113	16.30	22	SNP	1.000	A
SMG9	56006	genome.wustl.edu	37	19	44237094	44237094	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:44237094T>C	ENST00000270066.6	-	13	1742	c.1400A>G	c.(1399-1401)cAg>cGg	p.Q467R	SMG9_ENST00000601170.1_Missense_Mutation_p.Q467R	NM_019108.2	NP_061981.2	Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	467					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|intracellular (GO:0005622)	identical protein binding (GO:0042802)			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						CACCAAGGACTGGAAACTGGG	0.587																																						dbGAP											0													79.0	75.0	76.0					19																	44237094		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008869	CCDS33043.2	19q13.31	2013-07-02	2013-07-02	2011-06-21	ENSG00000105771	ENSG00000105771			25763	protein-coding gene	gene with protein product		613176	"""chromosome 19 open reading frame 61"", ""smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C19orf61		11230166, 19417104	Standard	NM_019108		Approved	FLJ12886	uc002oxj.2	Q9H0W8	OTTHUMG00000150337	ENST00000270066.6:c.1400A>G	19.37:g.44237094T>C	ENSP00000270066:p.Gln467Arg		O60429|Q9H9A9	Missense_Mutation	SNP	pfam_Smg8/Smg9	p.Q467R	ENST00000270066.6	37	c.1400	CCDS33043.2	19	.	.	.	.	.	.	.	.	.	.	T	15.03	2.712731	0.48517	.	.	ENSG00000105771	ENST00000270066	.	.	.	5.38	4.36	0.52297	.	0.397857	0.27609	N	0.018618	T	0.23532	0.0569	N	0.14661	0.345	0.26930	N	0.96649	B	0.23650	0.089	B	0.14578	0.011	T	0.14008	-1.0488	9	0.22109	T	0.4	-5.1115	9.9555	0.41663	0.152:0.0:0.0:0.848	.	467	Q9H0W8	SMG9_HUMAN	R	467	.	ENSP00000270066:Q467R	Q	-	2	0	SMG9	48928934	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.529000	0.60588	0.861000	0.35504	0.459000	0.35465	CAG	SMG9	-	NULL	ENSG00000105771		0.587	SMG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG9	HGNC	protein_coding	OTTHUMT00000317668.1	177	0.00	0	T	NM_019108		44237094	44237094	-1	no_errors	ENST00000270066	ensembl	human	known	69_37n	missense	150	11.24	19	SNP	1.000	C
SMPD3	55512	genome.wustl.edu	37	16	68404921	68404921	+	Silent	SNP	G	G	A	rs548081099	byFrequency	TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:68404921G>A	ENST00000219334.5	-	3	1767	c.1164C>T	c.(1162-1164)gaC>gaT	p.D388D	SMPD3_ENST00000563226.1_Silent_p.D388D|SMPD3_ENST00000568373.1_Silent_p.D388D|SMPD3_ENST00000566009.1_5'UTR	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	388					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	AGACCCCGACGTCGTACAGGA	0.582													G|||	3	0.000599042	0.0	0.0	5008	,	,		18408	0.0		0.0	False		,,,				2504	0.0031					dbGAP											0													65.0	51.0	56.0					16																	68404921		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.1164C>T	16.37:g.68404921G>A			B7ZL82|Q2M1S8	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.D388	ENST00000219334.5	37	c.1164	CCDS10867.1	16																																																																																			SMPD3	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000103056		0.582	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD3	HGNC	protein_coding	OTTHUMT00000268895.3	118	0.00	0	G	NM_018667		68404921	68404921	-1	no_errors	ENST00000219334	ensembl	human	known	69_37n	silent	136	20.00	34	SNP	0.963	A
SNRNP200	23020	genome.wustl.edu	37	2	96943289	96943289	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:96943289A>G	ENST00000323853.5	-	41	5996	c.5919T>C	c.(5917-5919)cgT>cgC	p.R1973R	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1973	SEC63 2.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TGTCTGTGCAACGTTTGATAT	0.582																																						dbGAP											0													75.0	74.0	75.0					2																	96943289		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.5919T>C	2.37:g.96943289A>G			O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R1973	ENST00000323853.5	37	c.5919	CCDS2020.1	2																																																																																			SNRNP200	-	pfam_Sec63-dom,smart_Sec63-dom	ENSG00000144028		0.582	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	191	0.52	1	A	NM_014014		96943289	96943289	-1	no_errors	ENST00000323853	ensembl	human	known	69_37n	silent	147	11.90	20	SNP	0.966	G
SNRPD2	6633	genome.wustl.edu	37	19	46191653	46191653	+	Silent	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:46191653G>T	ENST00000342669.3	-	2	618	c.174C>A	c.(172-174)gcC>gcA	p.A58A	SNRPD2_ENST00000585392.1_5'UTR|SNRPD2_ENST00000590212.1_Silent_p.A58A|SNRPD2_ENST00000588599.1_Silent_p.A48A|SNRPD2_ENST00000587367.1_Silent_p.A48A|SNRPD2_ENST00000588301.1_Silent_p.A58A|SNRPD2_ENST00000391932.3_Silent_p.A48A	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	58					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		ACCTATCGAAGGCCTTCACGC	0.557																																						dbGAP											0													113.0	97.0	102.0					19																	46191653		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33053.1, CCDS54281.1	19q13.2-q13.3	2011-10-11	2002-08-29		ENSG00000125743	ENSG00000125743			11159	protein-coding gene	gene with protein product	"""snRNP core protein D2"""	601061	"""small nuclear ribonucleoprotein D2 polypeptide (16.5kD)"""	SNRPD1		7527560, 1701240	Standard	NM_004597		Approved	Sm-D2	uc002pcw.3	P62316		ENST00000342669.3:c.174C>A	19.37:g.46191653G>T			A8K797|J3KPM5|P43330	Silent	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.A58	ENST00000342669.3	37	c.174	CCDS33053.1	19																																																																																			SNRPD2	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	ENSG00000125743		0.557	SNRPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPD2	HGNC	protein_coding	OTTHUMT00000459648.1	240	0.41	1	G	NM_004597		46191653	46191653	-1	no_errors	ENST00000342669	ensembl	human	known	69_37n	silent	417	11.25	53	SNP	0.998	T
SNTB1	6641	genome.wustl.edu	37	8	121561136	121561136	+	Missense_Mutation	SNP	G	G	A	rs199549031		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:121561136G>A	ENST00000395601.3	-	6	1613	c.1199C>T	c.(1198-1200)aCg>aTg	p.T400M	SNTB1_ENST00000517992.1_Missense_Mutation_p.T400M	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	400	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			ACCAGTTCGCGTTGCAAAGGA	0.537																																						dbGAP											0													184.0	147.0	160.0					8																	121561136		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.1199C>T	8.37:g.121561136G>A	ENSP00000378965:p.Thr400Met		A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology	p.T400M	ENST00000395601.3	37	c.1199	CCDS6334.1	8	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325521	0.60743	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.28666	1.6;1.6	5.74	5.74	0.90152	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.53254	0.1785	M	0.67953	2.075	0.80722	D	1	D	0.62365	0.991	P	0.62560	0.904	T	0.41270	-0.9518	10	0.35671	T	0.21	.	19.9173	0.97066	0.0:0.0:1.0:0.0	.	400	Q13884	SNTB1_HUMAN	M	400	ENSP00000378965:T400M;ENSP00000431124:T400M	ENSP00000378965:T400M	T	-	2	0	SNTB1	121630317	1.000000	0.71417	0.954000	0.39281	0.066000	0.16364	5.781000	0.68964	2.707000	0.92482	0.563000	0.77884	ACG	SNTB1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000172164		0.537	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB1	HGNC	protein_coding	OTTHUMT00000381535.1	354	0.00	0	G	NM_021021		121561136	121561136	-1	no_errors	ENST00000395601	ensembl	human	known	69_37n	missense	73	29.13	30	SNP	1.000	A
SOCS6	9306	genome.wustl.edu	37	18	67992730	67992730	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr18:67992730G>A	ENST00000397942.3	+	2	1142	c.826G>A	c.(826-828)Gcc>Acc	p.A276T	SOCS6_ENST00000582322.1_Missense_Mutation_p.A276T	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	276					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CCTAGTTGTCGCCCCAGAGAT	0.587																																					Melanoma(84;1024 1361 24382 36583 42651)	dbGAP											0													162.0	142.0	149.0					18																	67992730		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.826G>A	18.37:g.67992730G>A	ENSP00000381034:p.Ala276Thr		Q8WUM3	Missense_Mutation	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.A276T	ENST00000397942.3	37	c.826	CCDS11998.1	18	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885269	0.33255	.	.	ENSG00000170677	ENST00000397942	T	0.26223	1.75	5.12	5.12	0.69794	.	0.466120	0.20865	N	0.084278	T	0.23766	0.0575	L	0.36672	1.1	0.40633	D	0.981872	B	0.28880	0.226	B	0.22753	0.041	T	0.04400	-1.0954	10	0.45353	T	0.12	-6.1322	18.5771	0.91159	0.0:0.0:1.0:0.0	.	276	O14544	SOCS6_HUMAN	T	276	ENSP00000381034:A276T	ENSP00000381034:A276T	A	+	1	0	SOCS6	66143710	0.997000	0.39634	0.409000	0.26459	0.194000	0.23727	3.030000	0.49720	2.371000	0.80710	0.561000	0.74099	GCC	SOCS6	-	NULL	ENSG00000170677		0.587	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS6	HGNC	protein_coding	OTTHUMT00000256270.2	268	0.00	0	G			67992730	67992730	+1	no_errors	ENST00000397942	ensembl	human	known	69_37n	missense	111	17.78	24	SNP	0.995	A
CAPN15	6650	genome.wustl.edu	37	16	599131	599131	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:599131A>G	ENST00000219611.2	+	5	1951	c.1588A>G	c.(1588-1590)Agg>Ggg	p.R530G	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	530	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CAGGGACCACAGGGCCACGTG	0.672																																						dbGAP											0													78.0	79.0	79.0					16																	599131		2199	4297	6496	-	-	-	SO:0001583	missense	0			U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.1588A>G	16.37:g.599131A>G	ENSP00000219611:p.Arg530Gly		B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.R530G	ENST00000219611.2	37	c.1588	CCDS10410.1	16	.	.	.	.	.	.	.	.	.	.	a	1.300	-0.605273	0.03717	.	.	ENSG00000103326	ENST00000219611	T	0.76839	-1.05	5.04	-4.62	0.03370	Peptidase C2, calpain, catalytic domain (3);	1.039910	0.07505	N	0.907807	T	0.53142	0.1778	N	0.13299	0.325	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31998	-0.9923	10	0.18276	T	0.48	.	4.166	0.10306	0.1972:0.121:0.4955:0.1863	.	530	O75808	CAN15_HUMAN	G	530	ENSP00000219611:R530G	ENSP00000219611:R530G	R	+	1	2	SOLH	539132	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.795000	0.04580	-0.956000	0.03631	-0.373000	0.07131	AGG	SOLH	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat	ENSG00000103326		0.672	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOLH	HGNC	protein_coding	OTTHUMT00000239271.1	100	0.00	0	A	NM_005632		599131	599131	+1	no_errors	ENST00000219611	ensembl	human	known	69_37n	missense	120	18.92	28	SNP	0.000	G
SORCS2	57537	genome.wustl.edu	37	4	7728554	7728554	+	Silent	SNP	G	G	A	rs535722463		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:7728554G>A	ENST00000507866.2	+	21	2902	c.2793G>A	c.(2791-2793)acG>acA	p.T931T	SORCS2_ENST00000329016.9_Silent_p.T759T	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	931					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TTTCGGACACGGGCGACGTGC	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		15895	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													93.0	108.0	103.0					4																	7728554		2103	4194	6297	-	-	-	SO:0001819	synonymous_variant	0			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2793G>A	4.37:g.7728554G>A			Q9P2L7	Silent	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.T931	ENST00000507866.2	37	c.2793	CCDS47008.1	4																																																																																			SORCS2	-	superfamily_PKD_dom	ENSG00000184985		0.652	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS2	HGNC	protein_coding	OTTHUMT00000358685.4	167	0.00	0	G	NM_020777		7728554	7728554	+1	no_errors	ENST00000507866	ensembl	human	known	69_37n	silent	173	14.36	29	SNP	0.000	A
SOX13	9580	genome.wustl.edu	37	1	204092806	204092806	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:204092806G>A	ENST00000367204.1	+	12	1358	c.1249G>A	c.(1249-1251)Gag>Aag	p.E417K		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	417					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CCACTTCCCCGAGTCCCGAAA	0.617											OREG0014126	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													33.0	38.0	36.0					1																	204092806		2163	4287	6450	-	-	-	SO:0001583	missense	0				CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.1249G>A	1.37:g.204092806G>A	ENSP00000356172:p.Glu417Lys	2142	B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E417K	ENST00000367204.1	37	c.1249	CCDS44299.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.770602	0.96914	.	.	ENSG00000143842	ENST00000367204	D	0.97906	-4.6	5.54	5.54	0.83059	High mobility group, superfamily (1);	0.055061	0.64402	D	0.000001	D	0.97343	0.9131	L	0.35487	1.065	0.47511	D	0.99944	D;D;D	0.76494	0.998;0.999;0.999	P;P;P	0.58130	0.709;0.833;0.833	D	0.98266	1.0501	10	0.72032	D	0.01	.	19.075	0.93158	0.0:0.0:1.0:0.0	.	284;284;417	B4DX26;B4E3N9;Q9UN79	.;.;SOX13_HUMAN	K	417	ENSP00000356172:E417K	ENSP00000356172:E417K	E	+	1	0	SOX13	202359429	1.000000	0.71417	0.970000	0.41538	0.959000	0.62525	7.181000	0.77682	2.606000	0.88127	0.655000	0.94253	GAG	SOX13	-	superfamily_HMG_superfamily	ENSG00000143842		0.617	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX13	HGNC	protein_coding	OTTHUMT00000087881.2	110	0.00	0	G	NM_005686		204092806	204092806	+1	no_errors	ENST00000367204	ensembl	human	known	69_37n	missense	185	13.43	29	SNP	1.000	A
SPAG16	79582	genome.wustl.edu	37	2	214878674	214878675	+	Splice_Site	INS	-	-	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:214878674_214878675insC	ENST00000331683.5	+	13	1495_1496		c.e13-1		SPAG16_ENST00000374309.3_Splice_Site	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16						cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TCTCTTTATAGTGAAAGATGCA	0.317																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1401-1->C	2.37:g.214878674_214878675insC			Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Frame_Shift_Ins	INS	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E469fs	ENST00000331683.5	37	c.1402_1401	CCDS2396.1	2																																																																																			SPAG16	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000144451		0.317	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG16	HGNC	protein_coding	OTTHUMT00000256601.2	83	0.00	0	-	NM_024532	Intron	214878674	214878675	+1	no_errors	ENST00000331683	ensembl	human	known	69_37n	frame_shift_ins	12	14.29	2	INS	1.000:1.000	C
SP100	6672	genome.wustl.edu	37	2	231309023	231309023	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:231309023A>G	ENST00000264052.5	+	4	756	c.401A>G	c.(400-402)tAc>tGc	p.Y134C	SP100_ENST00000340126.4_Missense_Mutation_p.Y134C|SP100_ENST00000409824.1_Missense_Mutation_p.Y109C|SP100_ENST00000341950.4_Missense_Mutation_p.Y134C|SP100_ENST00000427101.2_Missense_Mutation_p.Y109C|SP100_ENST00000409112.1_Missense_Mutation_p.Y134C|SP100_ENST00000409341.1_Missense_Mutation_p.Y134C|SP100_ENST00000409897.1_Missense_Mutation_p.Y99C	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	134	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATGCAGGAATACCCCGATTTA	0.363																																						dbGAP											0													128.0	129.0	129.0					2																	231309023		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.401A>G	2.37:g.231309023A>G	ENSP00000264052:p.Tyr134Cys		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.Y134C	ENST00000264052.5	37	c.401	CCDS2477.1	2	.	.	.	.	.	.	.	.	.	.	A	14.40	2.523527	0.44866	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000432979;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897	D;D;D;D;D;D;D;D;D	0.97941	-4.62;-4.62;-4.62;-4.62;-4.62;-4.62;-4.62;-4.62;-4.62	3.89	3.89	0.44902	Sp100 (2);	.	.	.	.	D	0.98457	0.9486	M	0.83384	2.64	0.09310	N	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D	0.93944	0.7226	9	0.87932	D	0	.	9.3921	0.38378	1.0:0.0:0.0:0.0	.	109;134;99;134;134;134;109;134	F8WFE2;B4E2B9;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;.;SP100_HUMAN;.;.;.	C	134;109;109;109;134;134;134;134;99	ENSP00000264052:Y134C;ENSP00000399389:Y109C;ENSP00000391616:Y109C;ENSP00000387311:Y109C;ENSP00000386404:Y134C;ENSP00000386427:Y134C;ENSP00000343023:Y134C;ENSP00000342729:Y134C;ENSP00000386998:Y99C	ENSP00000264052:Y134C	Y	+	2	0	SP100	231017267	0.994000	0.37717	0.106000	0.21319	0.056000	0.15407	3.341000	0.52151	1.997000	0.58415	0.455000	0.32223	TAC	SP100	-	pfam_Sp100	ENSG00000067066		0.363	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2	94	0.00	0	A	NM_003113		231309023	231309023	+1	no_errors	ENST00000340126	ensembl	human	known	69_37n	missense	54	32.50	26	SNP	0.127	G
SPAG17	200162	genome.wustl.edu	37	1	118693199	118693199	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:118693199delT	ENST00000336338.5	-	3	347	c.282delA	c.(280-282)aaafs	p.K94fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	94						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CACCTACAGGTTTTTTTGCCT	0.254																																						dbGAP											0													71.0	73.0	72.0					1																	118693199		2199	4287	6486	-	-	-	SO:0001589	frameshift_variant	0				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.282delA	1.37:g.118693199delT	ENSP00000337804:p.Lys94fs		Q8NAZ1|Q9NT21	Frame_Shift_Del	DEL	NULL	p.K94fs	ENST00000336338.5	37	c.282	CCDS899.1	1																																																																																			SPAG17	-	NULL	ENSG00000155761		0.254	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	47	0.00	0	T	NM_206996		118693199	118693199	-1	no_errors	ENST00000336338	ensembl	human	known	69_37n	frame_shift_del	8	27.27	3	DEL	0.043	-
SPATA2	9825	genome.wustl.edu	37	20	48522305	48522305	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:48522305A>G	ENST00000422556.1	-	3	1763	c.1414T>C	c.(1414-1416)Tgc>Cgc	p.C472R	SPATA2_ENST00000289431.5_Missense_Mutation_p.C472R|SPATA2_ENST00000543716.1_Missense_Mutation_p.C335R	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	472					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CACTGGGTGCAGGTGTTGGTG	0.587																																						dbGAP											0													118.0	109.0	112.0					20																	48522305		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.1414T>C	20.37:g.48522305A>G	ENSP00000416799:p.Cys472Arg		E1P626|O94857	Missense_Mutation	SNP	NULL	p.C472R	ENST00000422556.1	37	c.1414	CCDS13422.1	20	.	.	.	.	.	.	.	.	.	.	A	17.73	3.461630	0.63513	.	.	ENSG00000158480	ENST00000289431;ENST00000422556;ENST00000543716	T;T;T	0.70045	-0.45;-0.45;-0.36	4.94	3.84	0.44239	.	0.059727	0.64402	D	0.000002	T	0.76521	0.3999	M	0.63843	1.955	0.80722	D	1	D	0.71674	0.998	D	0.69142	0.962	T	0.77389	-0.2606	10	0.87932	D	0	-32.5014	10.4856	0.44719	0.9235:0.0:0.0764:0.0	.	472	Q9UM82	SPAT2_HUMAN	R	472;472;335	ENSP00000289431:C472R;ENSP00000416799:C472R;ENSP00000438855:C335R	ENSP00000289431:C472R	C	-	1	0	SPATA2	47955712	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.570000	0.90748	0.904000	0.36572	0.374000	0.22700	TGC	SPATA2	-	NULL	ENSG00000158480		0.587	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA2	HGNC	protein_coding	OTTHUMT00000079658.1	277	0.36	1	A	NM_006038		48522305	48522305	-1	no_errors	ENST00000289431	ensembl	human	known	69_37n	missense	380	19.37	92	SNP	1.000	G
SPATA21	374955	genome.wustl.edu	37	1	16727090	16727090	+	Intron	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:16727090G>A	ENST00000335496.1	-	11	1657				SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Intron	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21								calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		AGTTAAGCCCGAAGTGGGAAA	0.552																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"""EF-hand domain containing"""	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.1174+124C>T	1.37:g.16727090G>A			B9EK40|F5GXP5	RNA	SNP	-	NULL	ENST00000335496.1	37	NULL	CCDS172.1	1																																																																																			SPATA21	-	-	ENSG00000187144		0.552	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA21	HGNC	protein_coding	OTTHUMT00000006677.2	23	0.00	0	G	NM_198546		16727090	16727090	-1	no_errors	ENST00000466212	ensembl	human	known	69_37n	rna	30	14.29	5	SNP	0.000	A
SPNS2	124976	genome.wustl.edu	37	17	4434391	4434391	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:4434391G>A	ENST00000329078.3	+	5	979	c.769G>A	c.(769-771)Gga>Aga	p.G257R		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	257					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						GCAGGCAGCCGGAGACTGGCA	0.622																																						dbGAP											0													47.0	43.0	44.0					17																	4434391		1568	3582	5150	-	-	-	SO:0001583	missense	0			BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.769G>A	17.37:g.4434391G>A	ENSP00000333292:p.Gly257Arg		B9A1T3	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G257R	ENST00000329078.3	37	c.769	CCDS42237.1	17	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983297	0.93044	.	.	ENSG00000183018	ENST00000329078	T	0.71817	-0.6	4.42	4.42	0.53409	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.83880	0.5350	M	0.81112	2.525	0.80722	D	1	D	0.69078	0.997	D	0.70716	0.97	D	0.86941	0.2079	10	0.87932	D	0	.	15.5656	0.76290	0.0:0.0:1.0:0.0	.	257	Q8IVW8	SPNS2_HUMAN	R	257	ENSP00000333292:G257R	ENSP00000333292:G257R	G	+	1	0	SPNS2	4381140	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.734000	0.74801	2.002000	0.58637	0.462000	0.41574	GGA	SPNS2	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000183018		0.622	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS2	HGNC	protein_coding	OTTHUMT00000438802.1	113	0.00	0	G			4434391	4434391	+1	no_errors	ENST00000329078	ensembl	human	known	69_37n	missense	129	25.29	44	SNP	1.000	A
SPSB1	80176	genome.wustl.edu	37	1	9416157	9416157	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:9416157G>T	ENST00000328089.6	+	2	548	c.207G>T	c.(205-207)gaG>gaT	p.E69D	SPSB1_ENST00000357898.3_Missense_Mutation_p.E69D|SPSB1_ENST00000377399.2_Missense_Mutation_p.E69D	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	69	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		TTGTGAAGGAGGACGACAAGC	0.567																																						dbGAP											0													180.0	174.0	176.0					1																	9416157		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS102.1	1p36.22	2008-02-05			ENSG00000171621	ENSG00000171621			30628	protein-coding gene	gene with protein product		611657				15713673, 12076535	Standard	NM_025106		Approved	SSB-1	uc010oae.2	Q96BD6	OTTHUMG00000001279	ENST00000328089.6:c.207G>T	1.37:g.9416157G>T	ENSP00000330221:p.Glu69Asp		A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C	p.E69D	ENST00000328089.6	37	c.207	CCDS102.1	1	.	.	.	.	.	.	.	.	.	.	G	1.921	-0.448313	0.04572	.	.	ENSG00000171621	ENST00000328089;ENST00000450402;ENST00000357898;ENST00000377399	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.32	1.27	0.21489	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.050308	0.85682	D	0.000000	T	0.19525	0.0469	N	0.05534	-0.03	0.58432	D	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.11665	-1.0578	10	0.11182	T	0.66	-14.4257	11.4697	0.50261	0.2839:0.0:0.7161:0.0	.	69	Q96BD6	SPSB1_HUMAN	D	69	ENSP00000330221:E69D;ENSP00000409235:E69D;ENSP00000350573:E69D;ENSP00000366616:E69D	ENSP00000330221:E69D	E	+	3	2	SPSB1	9338744	1.000000	0.71417	0.966000	0.40874	0.581000	0.36288	0.984000	0.29565	-0.236000	0.09753	-0.797000	0.03246	GAG	SPSB1	-	superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY	ENSG00000171621		0.567	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPSB1	HGNC	protein_coding	OTTHUMT00000003727.2	212	0.00	0	G	NM_025106		9416157	9416157	+1	no_errors	ENST00000328089	ensembl	human	known	69_37n	missense	277	10.36	32	SNP	1.000	T
SPTBN1	6711	genome.wustl.edu	37	2	54859887	54859887	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:54859887T>G	ENST00000356805.4	+	17	4030	c.3749T>G	c.(3748-3750)gTg>gGg	p.V1250G	SPTBN1_ENST00000333896.5_Missense_Mutation_p.V1237G	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1250					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CAGGAGAAGGTGGACTCTATT	0.522																																						dbGAP											0													111.0	99.0	103.0					2																	54859887		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.3749T>G	2.37:g.54859887T>G	ENSP00000349259:p.Val1250Gly		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.V1250G	ENST00000356805.4	37	c.3749	CCDS33198.1	2	.	.	.	.	.	.	.	.	.	.	T	17.73	3.462549	0.63513	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.53206	0.63;0.63	5.46	5.46	0.80206	.	0.060985	0.64402	D	0.000003	T	0.57080	0.2029	M	0.73962	2.25	0.80722	D	1	B;B	0.32051	0.354;0.27	B;B	0.39971	0.211;0.315	T	0.62006	-0.6945	10	0.87932	D	0	.	15.5486	0.76129	0.0:0.0:0.0:1.0	.	1237;1250	Q01082-3;Q01082	.;SPTB2_HUMAN	G	1250;1237	ENSP00000349259:V1250G;ENSP00000334156:V1237G	ENSP00000334156:V1237G	V	+	2	0	SPTBN1	54713391	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.990000	0.70595	2.081000	0.62600	0.533000	0.62120	GTG	SPTBN1	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000115306		0.522	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	211	0.47	1	T			54859887	54859887	+1	no_errors	ENST00000356805	ensembl	human	known	69_37n	missense	148	13.37	23	SNP	1.000	G
SPTSSB	165679	genome.wustl.edu	37	3	161064051	161064052	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:161064051_161064052insA	ENST00000359175.4	-	3	1630_1631	c.60_61insT	c.(58-63)attagcfs	p.S21fs	SPTSSB_ENST00000497137.1_Frame_Shift_Ins_p.S21fs	NM_001040100.1	NP_001035189.1	Q8NFR3	SPTSB_HUMAN	serine palmitoyltransferase, small subunit B	21					sphingolipid biosynthetic process (GO:0030148)	integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)											GCACAGCAGCTAATGATTTGGT	0.421																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF458592	CCDS33887.1	3q26.1	2011-07-26	2011-07-26	2011-07-26	ENSG00000196542	ENSG00000196542			24045	protein-coding gene	gene with protein product	"""androgen down regulated in mouse prostate"", ""small subunit of serine palmitoyltransferase B"""	610412	"""chromosome 3 open reading frame 57"""	C3orf57		15777716, 19416851	Standard	NM_001040100		Approved	ADMP, ssSPTb	uc003fee.3	Q8NFR3	OTTHUMG00000159073	ENST00000359175.4:c.61dupT	3.37:g.161064053_161064053dupA	ENSP00000352097:p.Ser21fs		B2R5D3|D3DNM8|Q0P5S6	Frame_Shift_Ins	INS	pfam_Ser_palmitoyltrfase_ssu-like	p.S20fs	ENST00000359175.4	37	c.61_60	CCDS33887.1	3																																																																																			SPTSSB	-	pfam_Ser_palmitoyltrfase_ssu-like	ENSG00000196542		0.421	SPTSSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTSSB	HGNC	protein_coding	OTTHUMT00000353181.1	97	0.00	0	-	NM_145035		161064051	161064052	-1	no_errors	ENST00000359175	ensembl	human	known	69_37n	frame_shift_ins	15	11.76	2	INS	1.000:0.983	A
SQSTM1	8878	genome.wustl.edu	37	5	179263500	179263500	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:179263500C>T	ENST00000389805.4	+	8	1408	c.1230C>T	c.(1228-1230)ggC>ggT	p.G410G	SQSTM1_ENST00000360718.5_Silent_p.G326G|SQSTM1_ENST00000376929.3_Silent_p.G326G|C5orf45_ENST00000523267.1_5'Flank|C5orf45_ENST00000403396.2_3'UTR|SQSTM1_ENST00000402874.3_Silent_p.G326G|SQSTM1_ENST00000510187.1_Missense_Mutation_p.A327V	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	410	Interaction with NTRK1. {ECO:0000250}.|UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGATGAAGGCGGCTGGCTCA	0.577																																						dbGAP											0													109.0	115.0	113.0					5																	179263500		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"""Paget disease of bone 3"", ""oxidative stress induced like"""	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.1230C>T	5.37:g.179263500C>T			A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_OPR_PB1,smart_OPR_PB1,smart_Znf_ZZ,pfscan_Znf_ZZ	p.A327V	ENST00000389805.4	37	c.980	CCDS34317.1	5	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799952	0.31869	.	.	ENSG00000161011	ENST00000510187	T	0.15718	2.4	4.63	-6.15	0.02105	.	.	.	.	.	T	0.09158	0.0226	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20371	-1.0277	8	0.52906	T	0.07	-23.6347	3.3862	0.07272	0.2084:0.138:0.0872:0.5665	.	327	E7EMC7	.	V	327	ENSP00000424477:A327V	ENSP00000424477:A327V	A	+	2	0	SQSTM1	179196106	0.000000	0.05858	0.964000	0.40570	0.786000	0.44442	-4.337000	0.00250	-0.614000	0.05687	-0.448000	0.05591	GCG	SQSTM1	-	NULL	ENSG00000161011		0.577	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SQSTM1	HGNC	protein_coding	OTTHUMT00000319344.1	161	0.00	0	C			179263500	179263500	+1	no_errors	ENST00000510187	ensembl	human	putative	69_37n	missense	202	26.55	73	SNP	0.046	T
SRCAP	10847	genome.wustl.edu	37	16	30748610	30748610	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:30748610G>A	ENST00000262518.4	+	34	7634	c.7249G>A	c.(7249-7251)Gcc>Acc	p.A2417T	SRCAP_ENST00000395059.2_Missense_Mutation_p.A2355T|SRCAP_ENST00000344771.4_Missense_Mutation_p.A2259T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2417					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.A2417T(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGTCATATCCGCCCATCAAAC	0.637																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											78.0	75.0	76.0					16																	30748610		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7249G>A	16.37:g.30748610G>A	ENSP00000262518:p.Ala2417Thr		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.A2417T	ENST00000262518.4	37	c.7249	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	G	5.019	0.189230	0.09547	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90955	-2.75;-2.76;-2.76	4.4	-5.25	0.02781	.	1.436390	0.04632	N	0.403848	T	0.72228	0.3434	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68375	-0.5425	10	0.05525	T	0.97	1.5142	2.0521	0.03573	0.1637:0.137:0.4105:0.2887	.	2355;2417	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	T	2417;2355;2259	ENSP00000262518:A2417T;ENSP00000378499:A2355T;ENSP00000343042:A2259T	ENSP00000262518:A2417T	A	+	1	0	SRCAP	30656111	0.016000	0.18221	0.008000	0.14137	0.149000	0.21700	-0.022000	0.12480	-0.898000	0.03906	0.456000	0.33151	GCC	SRCAP	-	NULL	ENSG00000080603		0.637	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	134	0.00	0	G	NM_006662		30748610	30748610	+1	no_errors	ENST00000262518	ensembl	human	known	69_37n	missense	158	14.52	27	SNP	0.016	A
SRP19	6728	genome.wustl.edu	37	5	112200210	112200210	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:112200210T>C	ENST00000505459.1	+	3	329	c.174T>C	c.(172-174)ctT>ctC	p.L58L	CTC-487M23.8_ENST00000512790.1_3'UTR|CTC-554D6.1_ENST00000520401.1_3'UTR|SRP19_ENST00000515463.1_Missense_Mutation_p.L33S|CTC-487M23.8_ENST00000506997.1_3'UTR|SRP19_ENST00000282999.3_Silent_p.L58L	NM_001204193.1|NM_003135.2	NP_001191122.1|NP_003126.1	P09132	SRP19_HUMAN	signal recognition particle 19kDa	58					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|large_intestine(1)	3		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		CAGTTGGACTTAACGTATTTC	0.323																																						dbGAP											0													179.0	173.0	175.0					5																	112200210		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS4108.1, CCDS56375.1, CCDS56376.1, CCDS75286.1	5q21-q22	2008-07-18	2002-08-29		ENSG00000153037	ENSG00000153037			11300	protein-coding gene	gene with protein product		182175	"""signal recognition particle 19kD"""			2460823	Standard	NM_003135		Approved		uc011cvu.2	P09132	OTTHUMG00000128805	ENST00000505459.1:c.174T>C	5.37:g.112200210T>C			B2R4E9|D6RCQ5|Q05D77|Q96FG6	Missense_Mutation	SNP	NULL	p.L33S	ENST00000505459.1	37	c.98	CCDS4108.1	5	.	.	.	.	.	.	.	.	.	.	T	11.32	1.604121	0.28534	.	.	ENSG00000153037	ENST00000515463	.	.	.	5.91	-5.04	0.02964	.	0.127712	0.53938	D	0.000047	T	0.36744	0.0978	.	.	.	0.20821	N	0.999841	.	.	.	.	.	.	T	0.43310	-0.9399	6	0.87932	D	0	-0.8682	7.7939	0.29135	0.0:0.2602:0.4468:0.293	.	.	.	.	S	33	.	ENSP00000425562:L33S	L	+	2	0	SRP19	112228109	0.880000	0.30214	0.936000	0.37596	0.953000	0.61014	-0.237000	0.08990	-0.676000	0.05238	-0.478000	0.04885	TTA	SRP19	-	NULL	ENSG00000153037		0.323	SRP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP19	HGNC	protein_coding	OTTHUMT00000250737.3	344	0.00	0	T	NM_003135		112200210	112200210	+1	no_errors	ENST00000515463	ensembl	human	putative	69_37n	missense	228	16.18	44	SNP	0.789	C
SRPX2	27286	genome.wustl.edu	37	X	99919932	99919932	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:99919932G>C	ENST00000373004.3	+	5	945	c.517G>C	c.(517-519)Gag>Cag	p.E173Q		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	173	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GAGTGGAGGCGAGCCTGTATG	0.522																																						dbGAP											0													55.0	47.0	50.0					X																	99919932		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.517G>C	X.37:g.99919932G>C	ENSP00000362095:p.Glu173Gln		B3KQT3|Q8WW85	Missense_Mutation	SNP	pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,superfamily_Thioredoxin-like_fold,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP	p.E173Q	ENST00000373004.3	37	c.517	CCDS14471.1	X	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756653	0.31137	.	.	ENSG00000102359	ENST00000373004	T	0.64260	-0.09	5.74	4.87	0.63330	Complement control module (2);Sushi/SCR/CCP (3);	0.187493	0.56097	N	0.000031	T	0.47581	0.1453	N	0.20807	0.61	0.54753	D	0.999987	B	0.21606	0.058	B	0.21917	0.037	T	0.31806	-0.9930	9	.	.	.	-5.4438	15.5256	0.75901	0.0:0.1439:0.8561:0.0	.	173	O60687	SRPX2_HUMAN	Q	173	ENSP00000362095:E173Q	.	E	+	1	0	SRPX2	99806588	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.313000	0.51935	1.159000	0.42565	0.600000	0.82982	GAG	SRPX2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000102359		0.522	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX2	HGNC	protein_coding	OTTHUMT00000057486.1	224	0.00	0	G	NM_014467		99919932	99919932	+1	no_errors	ENST00000373004	ensembl	human	known	69_37n	missense	56	16.42	11	SNP	1.000	C
SSH1	54434	genome.wustl.edu	37	12	109185991	109185991	+	Intron	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:109185991G>A	ENST00000326495.5	-	14	1987				SSH1_ENST00000326470.5_Missense_Mutation_p.A666V|SSH1_ENST00000360239.3_Intron|SSH1_ENST00000551165.1_Missense_Mutation_p.A655V	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1						actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						tactacagaggctgaggtagg	0.602																																						dbGAP											0													19.0	27.0	25.0					12																	109185991		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1893+70C>T	12.37:g.109185991G>A			Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.A666V	ENST00000326495.5	37	c.1997	CCDS9121.1	12	.	.	.	.	.	.	.	.	.	.	G	5.125	0.208680	0.09757	.	.	ENSG00000084112	ENST00000551165;ENST00000326470	T;T	0.28895	1.59;1.59	1.78	1.78	0.24846	.	.	.	.	.	T	0.13030	0.0316	.	.	.	0.09310	N	0.999997	P;P	0.34684	0.463;0.463	B;B	0.21360	0.034;0.034	T	0.15983	-1.0418	8	0.19147	T	0.46	.	5.8675	0.18783	0.0:0.0:0.6902:0.3097	.	666;655	Q8WYL5-5;Q8WYL5-2	.;.	V	655;666	ENSP00000448824:A655V;ENSP00000326107:A666V	ENSP00000326107:A666V	A	-	2	0	SSH1	107710120	0.050000	0.20438	0.022000	0.16811	0.012000	0.07955	0.832000	0.27490	0.920000	0.36970	0.460000	0.39030	GCC	SSH1	-	NULL	ENSG00000084112		0.602	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSH1	HGNC	protein_coding	OTTHUMT00000403724.1	34	0.00	0	G	NM_018984		109185991	109185991	-1	no_errors	ENST00000326470	ensembl	human	known	69_37n	missense	31	31.91	15	SNP	0.029	A
SSPO	23145	genome.wustl.edu	37	7	149481144	149481144	+	RNA	DEL	C	C	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:149481144delC	ENST00000378016.2	+	0	2626							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGTGTGTGCCCCCCAGCTT	0.652																																						dbGAP											0										29,3809		12,5,1902	31.0	38.0	36.0			3.3	1.0	7		36	126,7826		61,4,3911	no	frameshift	SSPO	NM_198455.2		73,9,5813	A1A1,A1R,RR		1.5845,0.7556,1.3147			149481144	155,11635	2018	4168	6186	-	-	-			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149481144delC			Q76B61	RNA	DEL	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.652	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		72	0.00	0	C			149481144	149481144	+1	no_errors	ENST00000262089	ensembl	human	known	69_37n	rna	135	23.16	41	DEL	1.000	-
SSPO	23145	genome.wustl.edu	37	7	149500159	149500159	+	RNA	SNP	C	C	T	rs542382565		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:149500159C>T	ENST00000378016.2	+	0	7785							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCCCTGCCCCGGGGCCTCCC	0.701													T|||	1	0.000199681	0.0008	0.0	5008	,	,		14262	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													5.0	7.0	7.0					7																	149500159		2043	4136	6179	-	-	-			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149500159C>T			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.701	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		8	0.00	0	C			149500159	149500159	+1	no_errors	ENST00000378016	ensembl	human	known	69_37n	rna	22	24.14	7	SNP	0.008	T
SSRP1	6749	genome.wustl.edu	37	11	57099320	57099320	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:57099320A>G	ENST00000278412.2	-	9	1311	c.1045T>C	c.(1045-1047)Tca>Cca	p.S349P	snoU13_ENST00000459327.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	349					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						AGCAGTCCTGAGCTTGCCTTG	0.582																																					Colon(89;1000 1340 6884 23013 41819)	dbGAP											0													78.0	69.0	72.0					11																	57099320		2201	4296	6497	-	-	-	SO:0001583	missense	0			M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.1045T>C	11.37:g.57099320A>G	ENSP00000278412:p.Ser349Pro		Q5BJG8	Missense_Mutation	SNP	pfam_SSRP1_dom,pfam_DUF1747,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,prints_SSrcognition	p.S349P	ENST00000278412.2	37	c.1045	CCDS7952.1	11	.	.	.	.	.	.	.	.	.	.	A	17.93	3.508095	0.64410	.	.	ENSG00000149136	ENST00000278412	T	0.47177	0.85	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.47893	0.1470	L	0.49778	1.585	0.80722	D	1	B	0.27594	0.182	B	0.33960	0.173	T	0.43507	-0.9387	10	0.44086	T	0.13	.	15.6986	0.77521	1.0:0.0:0.0:0.0	.	349	Q08945	SSRP1_HUMAN	P	349	ENSP00000278412:S349P	ENSP00000278412:S349P	S	-	1	0	SSRP1	56855896	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.637000	0.91014	2.371000	0.80710	0.533000	0.62120	TCA	SSRP1	-	pfam_SSRP1_dom,pfam_DUF1747,prints_SSrcognition	ENSG00000149136		0.582	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSRP1	HGNC	protein_coding	OTTHUMT00000392460.1	167	0.00	0	A	NM_003146		57099320	57099320	-1	no_errors	ENST00000278412	ensembl	human	known	69_37n	missense	180	12.92	27	SNP	1.000	G
STAB1	23166	genome.wustl.edu	37	3	52541645	52541645	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:52541645G>A	ENST00000321725.6	+	19	2082	c.2006G>A	c.(2005-2007)tGc>tAc	p.C669Y		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	669					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGTGTGGACTGCCAAGCCCTG	0.587																																						dbGAP											0													62.0	57.0	59.0					3																	52541645		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2006G>A	3.37:g.52541645G>A	ENSP00000312946:p.Cys669Tyr		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EGF-like,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.C669Y	ENST00000321725.6	37	c.2006	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537826	0.65085	.	.	ENSG00000010327	ENST00000321725	D	0.89123	-2.47	4.42	3.47	0.39725	.	0.000000	0.85682	D	0.000000	D	0.93644	0.7970	M	0.82630	2.6	0.42390	D	0.992521	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93324	0.6695	10	0.48119	T	0.1	.	11.3346	0.49496	0.0:0.1844:0.8156:0.0	.	669;669	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	Y	669	ENSP00000312946:C669Y	ENSP00000312946:C669Y	C	+	2	0	STAB1	52516685	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.017000	0.49615	2.176000	0.68965	0.462000	0.41574	TGC	STAB1	-	NULL	ENSG00000010327		0.587	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	227	0.00	0	G	NM_015136		52541645	52541645	+1	no_errors	ENST00000321725	ensembl	human	known	69_37n	missense	254	10.84	31	SNP	1.000	A
STAG3	10734	genome.wustl.edu	37	7	99798463	99798463	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:99798463T>C	ENST00000426455.1	+	19	2339	c.1932T>C	c.(1930-1932)gcT>gcC	p.A644A	GATS_ENST00000436886.2_3'UTR|STAG3_ENST00000317296.5_Silent_p.A644A|STAG3_ENST00000394018.2_Silent_p.A586A|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	644					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCTTGAGGCTGGGGCGCATG	0.577																																						dbGAP											0													54.0	53.0	53.0					7																	99798463		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.1932T>C	7.37:g.99798463T>C			A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Silent	SNP	pfam_STAG,superfamily_ARM-type_fold	p.A644	ENST00000426455.1	37	c.1932	CCDS34703.1	7																																																																																			STAG3	-	superfamily_ARM-type_fold	ENSG00000066923		0.577	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	STAG3	HGNC	protein_coding	OTTHUMT00000338734.2	61	0.00	0	T	NM_012447		99798463	99798463	+1	no_errors	ENST00000317296	ensembl	human	known	69_37n	silent	36	16.28	7	SNP	0.138	C
STARD7	56910	genome.wustl.edu	37	2	96861094	96861094	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:96861094G>T	ENST00000337288.5	-	2	867	c.484C>A	c.(484-486)Ctt>Att	p.L162I	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	162	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.					mitochondrion (GO:0005739)	lipid binding (GO:0008289)			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						TACTGGTAAAGGTGGGTGCCT	0.473																																						dbGAP											0													82.0	64.0	70.0					2																	96861094		2203	4296	6499	-	-	-	SO:0001583	missense	0			AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"""StAR-related lipid transfer (START) domain containing"""	18063	protein-coding gene	gene with protein product			"""START domain containing 7"""				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.484C>A	2.37:g.96861094G>T	ENSP00000338030:p.Leu162Ile		D3DXG9|Q53T44|Q6GU43|Q969M6	Missense_Mutation	SNP	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	p.L162I	ENST00000337288.5	37	c.484	CCDS2017.2	2	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836877	0.91117	.	.	ENSG00000084090	ENST00000337288;ENST00000443962	T;T	0.53423	0.62;0.62	6.07	6.07	0.98685	Lipid-binding START (3);START-like domain (1);	0.066234	0.64402	D	0.000008	T	0.55832	0.1945	L	0.60957	1.885	0.53688	D	0.999972	P	0.36110	0.537	P	0.44647	0.456	T	0.49194	-0.8965	10	0.38643	T	0.18	-15.5414	18.1531	0.89682	0.0:0.0:1.0:0.0	.	162	Q9NQZ5	STAR7_HUMAN	I	162;61	ENSP00000338030:L162I;ENSP00000409410:L61I	ENSP00000338030:L162I	L	-	1	0	STARD7	96224821	1.000000	0.71417	0.993000	0.49108	0.973000	0.67179	4.729000	0.62008	2.885000	0.99019	0.655000	0.94253	CTT	STARD7	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	ENSG00000084090		0.473	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD7	HGNC	protein_coding	OTTHUMT00000252848.2	265	0.00	0	G			96861094	96861094	-1	no_errors	ENST00000337288	ensembl	human	known	69_37n	missense	94	11.32	12	SNP	0.999	T
STAT3	6774	genome.wustl.edu	37	17	40481576	40481576	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:40481576T>C	ENST00000264657.5	-	13	1541	c.1229A>G	c.(1228-1230)cAc>cGc	p.H410R	STAT3_ENST00000404395.3_Missense_Mutation_p.H410R|STAT3_ENST00000588969.1_Missense_Mutation_p.H410R|STAT3_ENST00000389272.3_Missense_Mutation_p.H312R|STAT3_ENST00000585517.1_Missense_Mutation_p.H410R	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	410					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		ACATACCAAGTGTTTGAATTC	0.498									Hyperimmunoglobulin E Recurrent Infection Syndrome																													dbGAP											0													114.0	115.0	115.0					17																	40481576		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1229A>G	17.37:g.40481576T>C	ENSP00000264657:p.His410Arg		A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.H410R	ENST00000264657.5	37	c.1229	CCDS32656.1	17	.	.	.	.	.	.	.	.	.	.	T	26.0	4.699209	0.88830	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.88277	-2.36;-2.36;-2.36	6.02	6.02	0.97574	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94132	0.8118	M	0.78049	2.395	0.80722	D	1	D;D;D	0.55172	0.962;0.97;0.97	P;D;D	0.66351	0.905;0.943;0.943	D	0.94548	0.7751	10	0.72032	D	0.01	-34.673	16.5446	0.84426	0.0:0.0:0.0:1.0	.	410;410;410	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	R	410;312;410	ENSP00000264657:H410R;ENSP00000373923:H312R;ENSP00000384943:H410R	ENSP00000264657:H410R	H	-	2	0	STAT3	37735102	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	8.040000	0.89188	2.311000	0.77944	0.533000	0.62120	CAC	STAT3	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000168610		0.498	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT3	HGNC	protein_coding	OTTHUMT00000319353.3	121	0.81	1	T	NM_139276, NM_003150		40481576	40481576	-1	no_errors	ENST00000264657	ensembl	human	known	69_37n	missense	76	17.39	16	SNP	1.000	C
STMN4	81551	genome.wustl.edu	37	8	27097623	27097624	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:27097623_27097624delCT	ENST00000265770.7	-	5	510_511	c.374_375delAG	c.(373-375)gagfs	p.E125fs	STMN4_ENST00000519614.1_Frame_Shift_Del_p.E125fs|STMN4_ENST00000519997.1_Frame_Shift_Del_p.E116fs|STMN4_ENST00000350889.4_Frame_Shift_Del_p.E152fs|STMN4_ENST00000523048.1_Frame_Shift_Del_p.E152fs|STMN4_ENST00000522908.1_Frame_Shift_Del_p.E152fs			Q9H169	STMN4_HUMAN	stathmin-like 4	125	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				regulation of microtubule polymerization or depolymerization (GO:0031110)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)	Lomustine(DB01206)	TTTGGATCACCTCTCTCTCATG	0.505																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS6055.1, CCDS64851.1, CCDS64852.1, CCDS64854.1	8p21.2	2006-12-09			ENSG00000015592	ENSG00000015592			16078	protein-coding gene	gene with protein product						11230166	Standard	NM_001283054		Approved	RB3	uc003xfj.3	Q9H169	OTTHUMG00000099461	ENST00000265770.7:c.374_375delAG	8.37:g.27097629_27097630delCT	ENSP00000265770:p.Glu125fs		B7Z2Z7|B7Z4I9|D3DSS8|D3DSS9|G5EA16|Q2TAB9	Frame_Shift_Del	DEL	pfam_Stathmin,superfamily_Stathmin,pirsf_Stathmin,prints_Stathmin	p.E152fs	ENST00000265770.7	37	c.456_455		8																																																																																			STMN4	-	pfam_Stathmin,superfamily_Stathmin,pirsf_Stathmin,prints_Stathmin	ENSG00000015592		0.505	STMN4-006	KNOWN	basic|appris_principal	protein_coding	STMN4	HGNC	protein_coding	OTTHUMT00000375941.1	425	0.00	0	CT	NM_030795		27097623	27097624	-1	no_errors	ENST00000350889	ensembl	human	known	69_37n	frame_shift_del	437	10.06	49	DEL	1.000:1.000	-
STAU2	27067	genome.wustl.edu	37	8	74529674	74529674	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:74529674T>C	ENST00000524300.1	-	7	773	c.423A>G	c.(421-423)ccA>ccG	p.P141P	STAU2_ENST00000522695.1_Silent_p.P109P|STAU2_ENST00000523558.1_5'UTR|STAU2_ENST00000522509.1_Silent_p.P109P|STAU2_ENST00000517542.1_Silent_p.P103P|STAU2_ENST00000355780.5_Silent_p.P109P|STAU2_ENST00000519961.1_Silent_p.P141P|STAU2_ENST00000521210.1_Silent_p.P37P|STAU2_ENST00000521451.1_5'UTR|STAU2_ENST00000521727.1_Silent_p.P121P	NM_001164380.1|NM_001164381.1	NP_001157852.1|NP_001157853.1	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	141	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TCTTAGGCACTGGGCAATGAT	0.313																																						dbGAP											0													92.0	88.0	89.0					8																	74529674		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000524300.1:c.423A>G	8.37:g.74529674T>C			B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Silent	SNP	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.P141	ENST00000524300.1	37	c.423	CCDS55247.1	8																																																																																			STAU2	-	smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	ENSG00000040341		0.313	STAU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAU2	HGNC	protein_coding	OTTHUMT00000379000.2	131	0.00	0	T	NM_001164380		74529674	74529674	-1	no_errors	ENST00000524300	ensembl	human	known	69_37n	silent	104	13.33	16	SNP	0.876	C
STON2	85439	genome.wustl.edu	37	14	81737004	81737004	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:81737004C>T	ENST00000267540.2	-	5	2823	c.2623G>A	c.(2623-2625)Gga>Aga	p.G875R	STON2_ENST00000555447.1_Intron	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	875	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CAGATGCTTCCCAAGGCTACC	0.488																																						dbGAP											0													199.0	186.0	190.0					14																	81737004		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.2623G>A	14.37:g.81737004C>T	ENSP00000267540:p.Gly875Arg		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD	p.G875R	ENST00000267540.2	37	c.2623	CCDS9875.1	14	.	.	.	.	.	.	.	.	.	.	C	9.454	1.091290	0.20471	.	.	ENSG00000140022	ENST00000267540	T	0.11063	2.81	4.94	-0.642	0.11486	.	0.838830	0.10391	N	0.680456	T	0.06508	0.0167	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37220	-0.9715	10	0.72032	D	0.01	-5.1768	3.7927	0.08727	0.1631:0.4369:0.0:0.4	.	875	Q8WXE9	STON2_HUMAN	R	875	ENSP00000267540:G875R	ENSP00000267540:G875R	G	-	1	0	STON2	80806757	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.073000	0.11468	0.208000	0.20626	-0.345000	0.07892	GGA	STON2	-	pirsf_Stonin	ENSG00000140022		0.488	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STON2	HGNC	protein_coding	OTTHUMT00000413317.1	236	0.00	0	C	NM_033104		81737004	81737004	-1	no_errors	ENST00000267540	ensembl	human	known	69_37n	missense	167	15.66	31	SNP	0.000	T
STX4	6810	genome.wustl.edu	37	16	31051129	31051129	+	3'UTR	SNP	G	G	A	rs34576482		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:31051129G>A	ENST00000313843.3	+	0	1214				STX4_ENST00000493902.1_3'UTR|STX4_ENST00000394998.1_3'UTR	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4						blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						GGATAATGTCGCACATTGTTG	0.577																																						dbGAP											0													258.0	195.0	216.0					16																	31051129		2197	4300	6497	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"""syntaxin 4A (placental)"""	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.*5G>A	16.37:g.31051129G>A			A8MXY0|Q15525|Q6FHE8	RNA	SNP	-	NULL	ENST00000313843.3	37	NULL	CCDS10700.1	16																																																																																			STX4	-	-	ENSG00000103496		0.577	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX4	HGNC	protein_coding	OTTHUMT00000255538.3	374	0.27	1	G	NM_004604		31051129	31051129	+1	no_errors	ENST00000493902	ensembl	human	known	69_37n	rna	396	25.93	139	SNP	0.000	A
STXBP5	134957	genome.wustl.edu	37	6	147525627	147525627	+	5'Flank	SNP	T	T	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:147525627T>G	ENST00000321680.6	+	0	0				STXBP5_ENST00000546097.1_5'UTR|STXBP5-AS1_ENST00000417502.1_RNA|STXBP5-AS1_ENST00000427394.1_RNA|STXBP5_ENST00000367481.3_5'UTR|STXBP5_ENST00000179882.6_5'Flank|STXBP5-AS1_ENST00000367477.3_RNA|STXBP5_ENST00000367480.3_5'Flank	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)						exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GGGGACCCCCTGTGCCTCCCC	0.701																																						dbGAP											0													7.0	10.0	9.0					6																	147525627		2137	4201	6338	-	-	-	SO:0001631	upstream_gene_variant	0			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766		6.37:g.147525627T>G	Exception_encountered		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	RNA	SNP	-	NULL	ENST00000321680.6	37	NULL	CCDS47499.1	6																																																																																			STXBP5-AS1	-	-	ENSG00000233452		0.701	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP5-AS1	HGNC	protein_coding	OTTHUMT00000042606.1	8	0.00	0	T			147525627	147525627	-1	no_errors	ENST00000367477	ensembl	human	known	69_37n	rna	17	22.73	5	SNP	0.005	G
SUN5	140732	genome.wustl.edu	37	20	31573619	31573619	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:31573619G>T	ENST00000356173.3	-	11	912	c.820C>A	c.(820-822)Ctc>Atc	p.L274I	SUN5_ENST00000375523.3_Missense_Mutation_p.L249I	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	274	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TGCAGCGTGAGGTTGGACAGG	0.587																																						dbGAP											0													174.0	128.0	143.0					20																	31573619		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.820C>A	20.37:g.31573619G>T	ENSP00000348496:p.Leu274Ile		A6NJ82|Q5T9R0	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.L274I	ENST00000356173.3	37	c.820	CCDS13209.1	20	.	.	.	.	.	.	.	.	.	.	G	4.242	0.043822	0.08196	.	.	ENSG00000167098	ENST00000356173;ENST00000375523	T;T	0.37752	1.18;1.18	5.71	-5.28	0.02755	Sad1/UNC-like, C-terminal (2);	0.775307	0.11768	N	0.531425	T	0.07593	0.0191	N	0.00465	-1.465	0.58432	D	0.999996	B	0.14805	0.011	B	0.16289	0.015	T	0.43523	-0.9386	10	0.07813	T	0.8	-10.9665	9.9462	0.41611	0.0:0.4595:0.1623:0.3782	.	274	Q8TC36	SUN5_HUMAN	I	274;249	ENSP00000348496:L274I;ENSP00000364673:L249I	ENSP00000348496:L274I	L	-	1	0	SUN5	31037280	0.045000	0.20229	0.511000	0.27724	0.729000	0.41735	-0.869000	0.04232	-0.323000	0.08602	-0.181000	0.13052	CTC	SUN5	-	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	ENSG00000167098		0.587	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN5	HGNC	protein_coding	OTTHUMT00000078659.1	571	0.00	0	G	NM_080675		31573619	31573619	-1	no_errors	ENST00000356173	ensembl	human	known	69_37n	missense	571	12.80	84	SNP	0.492	T
SURF4	6836	genome.wustl.edu	37	9	136231781	136231781	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:136231781C>A	ENST00000371989.3	-	5	607	c.478G>T	c.(478-480)Gga>Tga	p.G160*	SURF4_ENST00000485435.2_Intron|SURF4_ENST00000545297.1_Intron|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000371991.3_Nonsense_Mutation_p.G160*	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	160					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		ACCCTGCCTCCGAGCTGCATG	0.537																																						dbGAP											0													96.0	76.0	83.0					9																	136231781		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"""surfeit locus protein 4"", ""surface 4 integral membrane protein"""	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.478G>T	9.37:g.136231781C>A	ENSP00000361057:p.Gly160*		B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Nonsense_Mutation	SNP	pfam_Surf4	p.G160*	ENST00000371989.3	37	c.478	CCDS6968.1	9	.	.	.	.	.	.	.	.	.	.	C	37	6.165188	0.97338	.	.	ENSG00000148248	ENST00000371989;ENST00000541390;ENST00000371991	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-7.6197	17.4528	0.87597	0.0:1.0:0.0:0.0	.	.	.	.	X	160;151;160	.	ENSP00000361057:G160X	G	-	1	0	SURF4	135221602	1.000000	0.71417	0.603000	0.28903	0.988000	0.76386	7.693000	0.84214	2.360000	0.80028	0.484000	0.47621	GGA	SURF4	-	pfam_Surf4	ENSG00000148248		0.537	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF4	HGNC	protein_coding	OTTHUMT00000054886.1	121	0.00	0	C	NM_033161		136231781	136231781	-1	no_errors	ENST00000371989	ensembl	human	known	69_37n	nonsense	94	33.33	47	SNP	0.999	A
SYNJ1	8867	genome.wustl.edu	37	21	34003518	34003518	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr21:34003518T>C	ENST00000322229.7	-	31	4508	c.4509A>G	c.(4507-4509)ttA>ttG	p.L1503L	SYNJ1_ENST00000382491.3_Silent_p.L1456L|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000433931.2_Silent_p.L1542L|SYNJ1_ENST00000357345.3_3'UTR			O43426	SYNJ1_HUMAN	synaptojanin 1	1503	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GATTACCCAGTAAGTCTGAAC	0.418																																						dbGAP											0													130.0	126.0	127.0					21																	34003518		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.4509A>G	21.37:g.34003518T>C			O43425|O94984|Q4KMR1	Missense_Mutation	SNP	NULL	p.Y18C	ENST00000322229.7	37	c.53	CCDS54484.1	21	.	.	.	.	.	.	.	.	.	.	T	2.512	-0.312730	0.05422	.	.	ENSG00000159082	ENST00000479254;ENST00000490462;ENST00000478228	.	.	.	5.41	-10.8	0.00216	.	.	.	.	.	T	0.27063	0.0663	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.29671	-1.0004	4	.	.	.	.	11.0973	0.48152	0.0:0.2801:0.4881:0.2318	.	.	.	.	C	18	.	.	Y	-	2	0	SYNJ1	32925389	0.000000	0.05858	0.000000	0.03702	0.545000	0.35147	-2.513000	0.00957	-2.819000	0.00344	0.533000	0.62120	TAC	SYNJ1	-	NULL	ENSG00000159082		0.418	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	HGNC	protein_coding		188	0.00	0	T			34003518	34003518	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000479254	ensembl	human	putative	69_37n	missense	60	13.04	9	SNP	0.000	C
SYNPO2L	79933	genome.wustl.edu	37	10	75408536	75408536	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:75408536A>G	ENST00000394810.2	-	4	1023	c.874T>C	c.(874-876)Tcc>Ccc	p.S292P	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.S68P	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	292						cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					ACCCCTTTGGAGTGGGGGTTG	0.562																																						dbGAP											0													43.0	42.0	42.0					10																	75408536		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.874T>C	10.37:g.75408536A>G	ENSP00000378289:p.Ser292Pro		A5PKV9|Q68A20	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S292P	ENST00000394810.2	37	c.874	CCDS44438.1	10	.	.	.	.	.	.	.	.	.	.	A	17.58	3.424181	0.62733	.	.	ENSG00000166317	ENST00000372873;ENST00000372872;ENST00000394810	T;T;T	0.42131	0.98;2.69;2.69	4.65	4.65	0.58169	.	0.065980	0.64402	D	0.000007	T	0.61274	0.2334	M	0.61703	1.905	0.49299	D	0.999774	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.65615	-0.6125	10	0.87932	D	0	-17.7423	14.2253	0.65855	1.0:0.0:0.0:0.0	.	292;68	Q9H987;Q9H987-2	SYP2L_HUMAN;.	P	68;292;292	ENSP00000361964:S68P;ENSP00000361963:S292P;ENSP00000378289:S292P	ENSP00000361963:S292P	S	-	1	0	SYNPO2L	75078542	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.962000	0.70364	1.975000	0.57531	0.397000	0.26171	TCC	SYNPO2L	-	NULL	ENSG00000166317		0.562	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNPO2L	HGNC	protein_coding	OTTHUMT00000316562.2	77	0.00	0	A	NM_024875		75408536	75408536	-1	no_errors	ENST00000394810	ensembl	human	known	69_37n	missense	137	13.84	22	SNP	1.000	G
SYNRG	11276	genome.wustl.edu	37	17	35902636	35902636	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:35902636T>C	ENST00000339208.6	-	15	2780	c.2640A>G	c.(2638-2640)ggA>ggG	p.G880G	SYNRG_ENST00000394378.2_Silent_p.G802G|SYNRG_ENST00000345615.4_Silent_p.G802G|SYNRG_ENST00000346661.4_Silent_p.G880G|SYNRG_ENST00000585472.1_Silent_p.G801G|SYNRG_ENST00000502449.2_Intron|SYNRG_ENST00000591288.1_Intron	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	880					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TACTGTAGCTTCCAAAAGCAG	0.418																																						dbGAP											0													54.0	55.0	55.0					17																	35902636		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2640A>G	17.37:g.35902636T>C			A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	smart_EPS15_homology,pfscan_EPS15_homology	p.G880	ENST00000339208.6	37	c.2640	CCDS11321.1	17																																																																																			SYNRG	-	NULL	ENSG00000006114		0.418	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNRG	HGNC	protein_coding	OTTHUMT00000256811.2	54	0.00	0	T	NM_007247		35902636	35902636	-1	no_errors	ENST00000339208	ensembl	human	known	69_37n	silent	15	28.57	6	SNP	0.996	C
SYT7	9066	genome.wustl.edu	37	11	61295496	61295496	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:61295496G>A	ENST00000263846.4	-	5	840	c.513C>T	c.(511-513)agC>agT	p.S171S	SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000535826.1_Silent_p.S290S|SYT7_ENST00000539008.1_Silent_p.S454S|SYT7_ENST00000542670.1_Silent_p.S379S|SYT7_ENST00000542836.1_Silent_p.S215S|SYT7_ENST00000540677.1_Silent_p.S246S	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	171	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGAAGGGGTCGCTGGTGCCGC	0.587																																						dbGAP											0													106.0	101.0	102.0					11																	61295496		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.513C>T	11.37:g.61295496G>A			F5GZU9|Q08AH6	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_membr_targeting	p.S171	ENST00000263846.4	37	c.513	CCDS31577.1	11																																																																																			SYT7	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_C2_dom,pfscan_C2_membr_targeting	ENSG00000011347		0.587	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT7	HGNC	protein_coding	OTTHUMT00000398733.1	273	0.00	0	G	NM_004200		61295496	61295496	-1	no_errors	ENST00000263846	ensembl	human	known	69_37n	silent	317	12.81	47	SNP	0.899	A
SYTL4	94121	genome.wustl.edu	37	X	99956243	99956243	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:99956243T>C	ENST00000372989.1	-	6	740	c.409A>G	c.(409-411)Agg>Ggg	p.R137G	SYTL4_ENST00000263033.5_Missense_Mutation_p.R137G|SYTL4_ENST00000455616.1_Missense_Mutation_p.R137G|SYTL4_ENST00000276141.6_Missense_Mutation_p.R137G|SYTL4_ENST00000372981.1_Missense_Mutation_p.R137G|SYTL4_ENST00000454200.2_Missense_Mutation_p.R137G	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	137					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGGGACATCCTGATTATCTCA	0.453																																						dbGAP											0													126.0	110.0	115.0					X																	99956243		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.409A>G	X.37:g.99956243T>C	ENSP00000362080:p.Arg137Gly		Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,prints_Synaptotagmin	p.R137G	ENST00000372989.1	37	c.409	CCDS14472.1	X	.	.	.	.	.	.	.	.	.	.	t	19.81	3.895867	0.72639	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033;ENST00000372981	T;T;T;T;T;T	0.70986	1.66;1.66;1.64;1.66;1.66;-0.53	5.45	4.21	0.49690	.	0.043338	0.85682	D	0.000000	D	0.83399	0.5246	M	0.86028	2.79	0.36695	D	0.879782	D;D	0.89917	1.0;0.998	D;D	0.74023	0.982;0.94	D	0.87671	0.2541	9	.	.	.	-27.2475	10.9154	0.47133	0.0:0.0:0.2551:0.7449	.	137;137	Q96C24-2;Q96C24	.;SYTL4_HUMAN	G	137	ENSP00000362080:R137G;ENSP00000390252:R137G;ENSP00000403556:R137G;ENSP00000276141:R137G;ENSP00000263033:R137G;ENSP00000362072:R137G	.	R	-	1	2	SYTL4	99842899	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.081000	0.41596	1.938000	0.56188	0.483000	0.47432	AGG	SYTL4	-	NULL	ENSG00000102362		0.453	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL4	HGNC	protein_coding	OTTHUMT00000057488.1	363	0.27	1	T	NM_080737		99956243	99956243	-1	no_errors	ENST00000454200	ensembl	human	known	69_37n	missense	97	14.91	17	SNP	1.000	C
TAB2	23118	genome.wustl.edu	37	6	149699979	149699979	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:149699979A>G	ENST00000367456.1	+	4	1505	c.928A>G	c.(928-930)Agc>Ggc	p.S310G	TAB2_ENST00000286332.5_Missense_Mutation_p.S310G|TAB2_ENST00000536230.1_Missense_Mutation_p.S278G|TAB2_ENST00000538427.1_Missense_Mutation_p.S310G|TAB2_ENST00000392282.1_Missense_Mutation_p.S310G			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	310					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						TTCTGCCCATAGCCAATATAA	0.413																																						dbGAP											0													121.0	112.0	115.0					6																	149699979		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.928A>G	6.37:g.149699979A>G	ENSP00000356426:p.Ser310Gly		B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.S310G	ENST00000367456.1	37	c.928	CCDS5214.1	6	.	.	.	.	.	.	.	.	.	.	A	1.980	-0.434348	0.04669	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T;T	0.74106	-0.81;-0.81;-0.8;-0.8;-0.8	6.16	3.74	0.42951	.	0.155416	0.64402	N	0.000001	T	0.35566	0.0936	N	0.19112	0.55	0.54753	D	0.999989	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.16129	-1.0413	10	0.22109	T	0.4	-5.6524	6.721	0.23330	0.793:0.0:0.0737:0.1333	.	278;310	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	G	278;310;310;310;310	ENSP00000443206:S278G;ENSP00000376106:S310G;ENSP00000445752:S310G;ENSP00000356426:S310G;ENSP00000286332:S310G	ENSP00000286332:S310G	S	+	1	0	TAB2	149741672	1.000000	0.71417	0.955000	0.39395	0.026000	0.11368	5.457000	0.66672	0.529000	0.28599	-0.336000	0.08194	AGC	TAB2	-	NULL	ENSG00000055208		0.413	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB2	HGNC	protein_coding	OTTHUMT00000042633.3	221	0.00	0	A			149699979	149699979	+1	no_errors	ENST00000286332	ensembl	human	known	69_37n	missense	147	12.50	21	SNP	0.994	G
TACC2	10579	genome.wustl.edu	37	10	123997481	123997481	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:123997481A>G	ENST00000369005.1	+	18	8617	c.8277A>G	c.(8275-8277)atA>atG	p.I2759M	TACC2_ENST00000334433.3_Missense_Mutation_p.I2759M|TACC2_ENST00000515273.1_Missense_Mutation_p.I2686M|TACC2_ENST00000368999.1_Missense_Mutation_p.I849M|TACC2_ENST00000260733.3_Missense_Mutation_p.I837M|TACC2_ENST00000360561.3_Missense_Mutation_p.I807M|TACC2_ENST00000453444.2_Missense_Mutation_p.I2686M|TACC2_ENST00000513429.1_Missense_Mutation_p.I905M|TACC2_ENST00000358010.1_Missense_Mutation_p.I905M|TACC2_ENST00000515603.1_Missense_Mutation_p.I2637M|TACC2_ENST00000369001.1_Missense_Mutation_p.I386M|TACC2_ENST00000369004.3_Missense_Mutation_p.I819M|TACC2_ENST00000369000.1_Missense_Mutation_p.I382M	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2759					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACTAGATCATAACCAAGGAGA	0.438																																						dbGAP											0													84.0	89.0	87.0					10																	123997481		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.8277A>G	10.37:g.123997481A>G	ENSP00000358001:p.Ile2759Met		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.I2759M	ENST00000369005.1	37	c.8277	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	A	15.29	2.790615	0.50102	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733	T;T;T;T;T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	4.94	1.09	0.20402	.	0.199750	0.24927	N	0.034493	T	0.51329	0.1668	L	0.50333	1.59	0.09310	N	0.999995	D;D;D;D;P;P;P;P;D	0.76494	0.999;0.978;0.999;0.998;0.946;0.82;0.733;0.82;0.999	D;P;D;D;P;P;B;P;D	0.81914	0.993;0.888;0.993;0.991;0.859;0.521;0.358;0.6;0.995	T	0.32903	-0.9889	10	0.46703	T	0.11	-6.6063	7.9311	0.29904	0.4301:0.4816:0.0883:0.0	.	2686;819;2637;2686;807;837;382;905;2759	E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	M	2759;905;2686;2637;2759;905;2686;2672;386;382;807;849;819;837	ENSP00000358001:I2759M;ENSP00000425062:I905M;ENSP00000424467:I2686M;ENSP00000427618:I2637M;ENSP00000334280:I2759M;ENSP00000350701:I905M;ENSP00000395048:I2686M;ENSP00000357997:I386M;ENSP00000357996:I382M;ENSP00000353763:I807M;ENSP00000357995:I849M;ENSP00000422815:I819M;ENSP00000260733:I837M	ENSP00000260733:I837M	I	+	3	3	TACC2	123987471	0.694000	0.27738	0.999000	0.59377	0.849000	0.48306	-0.041000	0.12084	0.348000	0.23949	0.533000	0.62120	ATA	TACC2	-	pfam_TACC	ENSG00000138162		0.438	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	225	0.00	0	A			123997481	123997481	+1	no_errors	ENST00000334433	ensembl	human	known	69_37n	missense	144	15.79	27	SNP	0.997	G
TAF1L	138474	genome.wustl.edu	37	9	32633083	32633083	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:32633083C>T	ENST00000242310.4	-	1	2584	c.2495G>A	c.(2494-2496)cGc>cAc	p.R832H	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	832					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCAGAAAAGGCGGTAAATAAA	0.453																																						dbGAP											0													113.0	117.0	116.0					9																	32633083		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2495G>A	9.37:g.32633083C>T	ENSP00000418379:p.Arg832His		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.R832H	ENST00000242310.4	37	c.2495	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787100	0.49997	.	.	ENSG00000122728	ENST00000242310	T	0.19532	2.14	1.19	1.19	0.21007	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.51278	0.1665	H	0.94658	3.565	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.56679	-0.7939	10	0.87932	D	0	.	7.8312	0.29344	0.0:1.0:0.0:0.0	.	832	Q8IZX4	TAF1L_HUMAN	H	832	ENSP00000418379:R832H	ENSP00000418379:R832H	R	-	2	0	TAF1L	32623083	1.000000	0.71417	0.998000	0.56505	0.701000	0.40568	4.919000	0.63383	0.632000	0.30432	0.195000	0.17529	CGC	TAF1L	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591	ENSG00000122728		0.453	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	92	0.00	0	C			32633083	32633083	-1	no_errors	ENST00000242310	ensembl	human	known	69_37n	missense	65	22.35	19	SNP	1.000	T
TAF4	6874	genome.wustl.edu	37	20	60587944	60587944	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:60587944A>G	ENST00000252996.4	-	3	1567	c.1568T>C	c.(1567-1569)aTa>aCa	p.I523T	TAF4_ENST00000609045.1_5'Flank	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	523					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TTGCTTAATTATGGTAGTTGG	0.562																																						dbGAP											0													101.0	92.0	95.0					20																	60587944		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1568T>C	20.37:g.60587944A>G	ENSP00000252996:p.Ile523Thr		A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.I523T	ENST00000252996.4	37	c.1568	CCDS33500.1	20	.	.	.	.	.	.	.	.	.	.	A	17.38	3.374591	0.61735	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.26067	1.76;1.76	4.83	3.71	0.42584	.	0.000000	0.85682	D	0.000000	T	0.18800	0.0451	L	0.58101	1.795	0.58432	D	0.999999	B	0.28512	0.214	B	0.18263	0.021	T	0.03249	-1.1056	10	0.06236	T	0.91	-17.1125	9.3481	0.38120	0.9149:0.0:0.0851:0.0	.	523	O00268	TAF4_HUMAN	T	523;387	ENSP00000252996:I523T;ENSP00000399091:I387T	ENSP00000252996:I523T	I	-	2	0	TAF4	60021339	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.202000	0.89737	1.810000	0.52873	0.379000	0.24179	ATA	TAF4	-	NULL	ENSG00000130699		0.562	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF4	HGNC	protein_coding	OTTHUMT00000079968.2	150	0.00	0	A	NM_003185		60587944	60587944	-1	no_errors	ENST00000252996	ensembl	human	known	69_37n	missense	189	23.90	60	SNP	1.000	G
TAPBPL	55080	genome.wustl.edu	37	12	6562312	6562312	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:6562312T>C	ENST00000266556.7	+	2	309	c.144T>C	c.(142-144)cgT>cgC	p.R48R	TAPBPL_ENST00000545700.1_3'UTR|TAPBPL_ENST00000544021.1_Intron|CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	48					negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						GTGCGCACCGTGGAGCTCTCG	0.652																																						dbGAP											0													50.0	43.0	45.0					12																	6562312		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001005	CCDS8546.1	12p13.31	2013-01-11						"""Immunoglobulin superfamily / C1-set domain containing"""	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.144T>C	12.37:g.6562312T>C			Q9NWB8	Silent	SNP	pfam_Ig_C1-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like	p.R48	ENST00000266556.7	37	c.144	CCDS8546.1	12																																																																																			TAPBPL	-	NULL	ENSG00000139192		0.652	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAPBPL	HGNC	protein_coding	OTTHUMT00000399263.1	103	0.94	1	T	NM_018009		6562312	6562312	+1	no_errors	ENST00000266556	ensembl	human	known	69_37n	silent	94	12.04	13	SNP	0.000	C
TAS1R3	83756	genome.wustl.edu	37	1	1267243	1267243	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:1267243G>A	ENST00000339381.5	+	2	449	c.417G>A	c.(415-417)ctG>ctA	p.L139L		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	139					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		CCCGTGTGCTGGCTGTCATCG	0.647																																						dbGAP											0													45.0	49.0	48.0					1																	1267243		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.417G>A	1.37:g.1267243G>A			Q5TA49|Q8NGW9	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.L139	ENST00000339381.5	37	c.417	CCDS30556.1	1																																																																																			TAS1R3	-	pfam_ANF_lig-bd_rcpt	ENSG00000169962		0.647	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R3	HGNC	protein_coding	OTTHUMT00000008493.1	60	0.00	0	G			1267243	1267243	+1	no_errors	ENST00000339381	ensembl	human	known	69_37n	silent	76	24.75	25	SNP	0.945	A
TAS1R1	80835	genome.wustl.edu	37	1	6615560	6615560	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:6615560C>A	ENST00000333172.6	+	1	320	c.127C>A	c.(127-129)Ctg>Atg	p.L43M	TAS1R1_ENST00000351136.3_Missense_Mutation_p.L43M|NOL9_ENST00000377705.5_5'Flank|TAS1R1_ENST00000328191.4_Missense_Mutation_p.L43M	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	43					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CCTGGCAGGCCTGTTCCCTCT	0.607																																						dbGAP											0													50.0	46.0	47.0					1																	6615560		2198	4294	6492	-	-	-	SO:0001583	missense	0				CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.127C>A	1.37:g.6615560C>A	ENSP00000331867:p.Leu43Met		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.L43M	ENST00000333172.6	37	c.127	CCDS81.1	1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774328	0.31411	.	.	ENSG00000173662	ENST00000333172;ENST00000328191;ENST00000351136	D;D;D	0.88818	-2.43;-2.43;-2.43	4.28	-2.05	0.07321	.	0.567387	0.16528	N	0.210511	D	0.88764	0.6525	M	0.68593	2.085	0.09310	N	0.999996	D;P;P;P	0.58268	0.982;0.926;0.496;0.838	P;P;B;B	0.58210	0.548;0.835;0.126;0.163	T	0.79339	-0.1844	10	0.51188	T	0.08	.	3.1245	0.06402	0.3158:0.3737:0.0:0.3105	.	43;43;43;43	Q7RTX1-3;Q7RTX1-4;Q7RTX1-2;Q7RTX1	.;.;.;TS1R1_HUMAN	M	43	ENSP00000331867:L43M;ENSP00000327705:L43M;ENSP00000312558:L43M	ENSP00000327705:L43M	L	+	1	2	TAS1R1	6538147	0.314000	0.24563	0.379000	0.26080	0.364000	0.29643	-0.274000	0.08537	-0.261000	0.09405	0.455000	0.32223	CTG	TAS1R1	-	prints_GPCR_3	ENSG00000173662		0.607	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R1	HGNC	protein_coding	OTTHUMT00000004211.1	187	0.00	0	C			6615560	6615560	+1	no_errors	ENST00000333172	ensembl	human	known	69_37n	missense	267	12.17	37	SNP	0.299	A
TBC1D2	55357	genome.wustl.edu	37	9	100971232	100971232	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:100971232C>T	ENST00000375064.1	-	9	1906	c.1868G>A	c.(1867-1869)cGg>cAg	p.R623Q	TBC1D2_ENST00000342112.5_Missense_Mutation_p.R405Q|TBC1D2_ENST00000375063.1_Missense_Mutation_p.R163Q|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375066.5_Missense_Mutation_p.R623Q	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	623					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		TACTCCTGCCCGCAGTAGCTG	0.672																																						dbGAP											0													53.0	59.0	57.0					9																	100971232		2203	4298	6501	-	-	-	SO:0001583	missense	0			AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.1868G>A	9.37:g.100971232C>T	ENSP00000364205:p.Arg623Gln		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.R623Q	ENST00000375064.1	37	c.1868		9	.	.	.	.	.	.	.	.	.	.	C	36	5.816739	0.96982	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112;ENST00000375063	T;T;T;T	0.29142	3.5;3.5;3.5;1.58	5.71	5.71	0.89125	Rab-GAP/TBC domain (2);	0.000000	0.85682	D	0.000000	T	0.58509	0.2127	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.59295	-0.7481	10	0.62326	D	0.03	.	18.6224	0.91326	0.0:1.0:0.0:0.0	.	623;623	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	Q	623;623;405;163	ENSP00000364205:R623Q;ENSP00000364207:R623Q;ENSP00000341567:R405Q;ENSP00000364203:R163Q	ENSP00000341567:R405Q	R	-	2	0	TBC1D2	100011053	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.755000	0.85180	2.709000	0.92574	0.561000	0.74099	CGG	TBC1D2	-	superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom	ENSG00000095383		0.672	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	TBC1D2	HGNC	protein_coding	OTTHUMT00000053366.1	51	0.00	0	C	NM_018421		100971232	100971232	-1	no_errors	ENST00000375066	ensembl	human	known	69_37n	missense	66	32.00	32	SNP	1.000	T
TBC1D2	55357	genome.wustl.edu	37	9	100971409	100971409	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:100971409C>A	ENST00000375064.1	-	9	1729	c.1691G>T	c.(1690-1692)gGc>gTc	p.G564V	TBC1D2_ENST00000342112.5_Missense_Mutation_p.G346V|TBC1D2_ENST00000375063.1_Missense_Mutation_p.G104V|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375066.5_Missense_Mutation_p.G564V	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	564					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CGTCAGGAAGCCGTACTCATC	0.582																																						dbGAP											0													244.0	250.0	248.0					9																	100971409		2200	4297	6497	-	-	-	SO:0001583	missense	0			AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.1691G>T	9.37:g.100971409C>A	ENSP00000364205:p.Gly564Val		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.G564V	ENST00000375064.1	37	c.1691		9	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495404	0.85069	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112;ENST00000375063	T;T;T;T	0.30448	1.93;1.53;2.07;2.18	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.59810	0.2221	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.62144	-0.6916	10	0.87932	D	0	.	18.7676	0.91879	0.0:1.0:0.0:0.0	.	564;564	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	V	564;564;346;104	ENSP00000364205:G564V;ENSP00000364207:G564V;ENSP00000341567:G346V;ENSP00000364203:G104V	ENSP00000341567:G346V	G	-	2	0	TBC1D2	100011230	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.758000	0.85224	2.744000	0.94065	0.561000	0.74099	GGC	TBC1D2	-	NULL	ENSG00000095383		0.582	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	TBC1D2	HGNC	protein_coding	OTTHUMT00000053366.1	72	0.00	0	C	NM_018421		100971409	100971409	-1	no_errors	ENST00000375066	ensembl	human	known	69_37n	missense	77	12.50	11	SNP	1.000	A
TBC1D23	55773	genome.wustl.edu	37	3	100009479	100009479	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:100009479T>C	ENST00000394144.4	+	5	541	c.534T>C	c.(532-534)caT>caC	p.H178H	TBC1D23_ENST00000475134.1_Silent_p.H41H|TBC1D23_ENST00000344949.5_Silent_p.H178H|TBC1D23_ENST00000486274.1_3'UTR	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	178	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TCCAATACCATGAGCCTGAGC	0.368																																						dbGAP											0													80.0	82.0	81.0					3																	100009479		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.534T>C	3.37:g.100009479T>C			B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom	p.H178	ENST00000394144.4	37	c.534	CCDS56265.1	3																																																																																			TBC1D23	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000036054		0.368	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	TBC1D23	HGNC	protein_coding	OTTHUMT00000353150.1	114	0.00	0	T	NM_018309		100009479	100009479	+1	no_errors	ENST00000394144	ensembl	human	known	69_37n	silent	38	11.63	5	SNP	1.000	C
TBC1D28	254272	genome.wustl.edu	37	17	18541993	18541993	+	Missense_Mutation	SNP	G	G	A	rs201108698		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:18541993G>A	ENST00000345096.4	-	6	919	c.220C>T	c.(220-222)Cgt>Tgt	p.R74C	TBC1D28_ENST00000405044.1_Missense_Mutation_p.R74C|TBC1D28_ENST00000575570.1_5'Flank			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	74							Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						TTGTTGGTACGTTTACTTTCC	0.527													.|||	1	0.000199681	0.0	0.0014	5008	,	,		20770	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													118.0	116.0	117.0					17																	18541993		1956	4152	6108	-	-	-	SO:0001583	missense	0				CCDS42273.1	17p11.2	2008-10-27			ENSG00000189375	ENSG00000189375			26858	protein-coding gene	gene with protein product							Standard	NM_001039397		Approved	FLJ40244	uc002gud.2	Q2M2D7	OTTHUMG00000059054	ENST00000345096.4:c.220C>T	17.37:g.18541993G>A	ENSP00000339973:p.Arg74Cys		Q2M2E1	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom	p.R74C	ENST00000345096.4	37	c.220	CCDS42273.1	17	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	N	3.432	-0.115932	0.06881	.	.	ENSG00000189375	ENST00000345096;ENST00000405044	T;T	0.37235	1.21;1.21	0.977	-1.95	0.07548	Rab-GAP/TBC domain (1);	0.079016	0.50627	U	0.000120	T	0.22360	0.0539	L	0.39397	1.21	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.08472	-1.0720	10	0.52906	T	0.07	.	4.6461	0.12572	0.351:0.0:0.649:0.0	.	74	Q2M2D7	TBC28_HUMAN	C	74	ENSP00000339973:R74C;ENSP00000385821:R74C	ENSP00000339973:R74C	R	-	1	0	TBC1D28	18482718	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	0.580000	0.23803	-0.850000	0.04152	-0.856000	0.03024	CGT	TBC1D28	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000189375		0.527	TBC1D28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D28	HGNC	protein_coding	OTTHUMT00000130672.2	390	0.00	0	G	NM_001039397		18541993	18541993	-1	no_errors	ENST00000345096	ensembl	human	known	69_37n	missense	419	23.55	130	SNP	0.001	A
TBL2	26608	genome.wustl.edu	37	7	72987283	72987283	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:72987283C>T	ENST00000305632.5	-	5	857	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Missense_Mutation_p.A170T|TBL2_ENST00000452475.1_Missense_Mutation_p.A206T	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	206							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCACTGGAGGCAGTCATGATA	0.532																																						dbGAP											0													183.0	130.0	148.0					7																	72987283		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	11586	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.616G>A	7.37:g.72987283C>T	ENSP00000307260:p.Ala206Thr		Q9UQE2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A206T	ENST00000305632.5	37	c.616	CCDS5551.1	7	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703291	0.88924	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538;ENST00000452475	T;T;T	0.64618	-0.11;-0.11;-0.11	5.95	5.95	0.96441	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.208574	0.49305	D	0.000141	T	0.72028	0.3410	M	0.75615	2.305	0.80722	D	1	P;P	0.37207	0.587;0.587	P;P	0.45577	0.486;0.486	T	0.71912	-0.4449	10	0.51188	T	0.08	-8.8981	17.8584	0.88773	0.0:1.0:0.0:0.0	.	170;206	E9PF19;Q9Y4P3	.;TBL2_HUMAN	T	206;206;170;206	ENSP00000307260:A206T;ENSP00000413979:A170T;ENSP00000407371:A206T	ENSP00000307260:A206T	A	-	1	0	TBL2	72625219	1.000000	0.71417	0.961000	0.40146	0.970000	0.65996	5.694000	0.68272	2.821000	0.97095	0.561000	0.74099	GCC	TBL2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000106638		0.532	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL2	HGNC	protein_coding	OTTHUMT00000252233.3	398	0.00	0	C	NM_012453		72987283	72987283	-1	no_errors	ENST00000305632	ensembl	human	known	69_37n	missense	590	11.28	75	SNP	1.000	T
TBX15	6913	genome.wustl.edu	37	1	119466144	119466144	+	Missense_Mutation	SNP	T	T	G	rs556249835	byFrequency	TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:119466144T>G	ENST00000369429.3	-	5	785	c.776A>C	c.(775-777)aAg>aCg	p.K259T	TBX15_ENST00000207157.3_Missense_Mutation_p.K153T			Q96SF7	TBX15_HUMAN	T-box 15	259					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGGAACAGGCTTAGTGGGTGA	0.473													T|||	5	0.000998403	0.0	0.0	5008	,	,		20567	0.0		0.0	False		,,,				2504	0.0051					dbGAP											0													159.0	149.0	153.0					1																	119466144		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.776A>C	1.37:g.119466144T>G	ENSP00000358437:p.Lys259Thr		Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.K259T	ENST00000369429.3	37	c.776		1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.090608	0.55968	.	.	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429	D;D	0.88664	-2.41;-2.33	5.78	5.78	0.91487	p53-like transcription factor, DNA-binding (1);	0.000000	0.34725	U	0.003727	T	0.73814	0.3635	L	0.28192	0.835	0.80722	D	1	B	0.16166	0.016	B	0.29440	0.102	T	0.70761	-0.4784	10	0.08837	T	0.75	.	16.1205	0.81351	0.0:0.0:0.0:1.0	.	259	Q96SF7	TBX15_HUMAN	T	23;153;259	ENSP00000207157:K153T;ENSP00000358437:K259T	ENSP00000207157:K153T	K	-	2	0	TBX15	119267667	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.849000	0.62882	2.205000	0.71048	0.533000	0.62120	AAG	TBX15	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000092607		0.473	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	TBX15	HGNC	protein_coding	OTTHUMT00000034351.1	454	0.00	0	T	NM_152380		119466144	119466144	-1	no_errors	ENST00000369429	ensembl	human	known	69_37n	missense	54	12.90	8	SNP	1.000	G
TBX3	6926	genome.wustl.edu	37	12	115109929	115109929	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:115109929G>A	ENST00000257566.3	-	8	2338	c.1949C>T	c.(1948-1950)cCg>cTg	p.P650L	TBX3_ENST00000349155.2_Missense_Mutation_p.P630L	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	650	Transcription repression.				anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P650Q(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GCTGCCGTCCGGGACCGGCAC	0.746																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											9.0	9.0	9.0					12																	115109929		2152	4216	6368	-	-	-	SO:0001583	missense	0			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1949C>T	12.37:g.115109929G>A	ENSP00000257566:p.Pro650Leu		Q8TB20|Q9UKF8	Missense_Mutation	SNP	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.P650L	ENST00000257566.3	37	c.1949	CCDS9176.1	12	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331747	0.60853	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.90197	-2.63;-2.61	4.99	4.1	0.47936	.	9.385950	0.00397	N	0.000051	D	0.94245	0.8152	L	0.60455	1.87	0.58432	D	0.999996	D;B	0.65815	0.995;0.004	P;B	0.59115	0.852;0.001	T	0.82532	-0.0410	10	0.87932	D	0	.	12.1085	0.53825	0.0848:0.0:0.9152:0.0	.	630;650	O15119-2;O15119	.;TBX3_HUMAN	L	630;650;524	ENSP00000257567:P630L;ENSP00000257566:P650L	ENSP00000257566:P650L	P	-	2	0	TBX3	113594312	1.000000	0.71417	0.007000	0.13788	0.470000	0.32858	8.806000	0.91930	1.102000	0.41551	-0.140000	0.14226	CCG	TBX3	-	NULL	ENSG00000135111		0.746	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	HGNC	protein_coding	OTTHUMT00000404947.2	19	0.00	0	G	NM_016569, NM_005996		115109929	115109929	-1	no_errors	ENST00000257566	ensembl	human	known	69_37n	missense	40	25.93	14	SNP	0.772	A
TBXAS1	6916	genome.wustl.edu	37	7	139652455	139652455	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:139652455G>A	ENST00000458722.1	+	6	693	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	TBXAS1_ENST00000263552.6_Intron|TBXAS1_ENST00000425687.1_Intron|TBXAS1_ENST00000414508.2_Intron|TBXAS1_ENST00000336425.5_Intron|TBXAS1_ENST00000416849.2_Missense_Mutation_p.V187M|TBXAS1_ENST00000462275.1_Intron|TBXAS1_ENST00000436047.2_Intron|TBXAS1_ENST00000448866.1_Intron|TBXAS1_ENST00000411653.1_Intron			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	150					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	TGGTATCTATGTGAATCTCCA	0.403																																						dbGAP											0													149.0	128.0	134.0					7																	139652455		692	1591	2283	-	-	-	SO:0001583	missense	0			L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000458722.1:c.556G>A	7.37:g.139652455G>A	ENSP00000411274:p.Val186Met		B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.V187M	ENST00000458722.1	37	c.559		7	.	.	.	.	.	.	.	.	.	.	G	6.950	0.545119	0.13312	.	.	ENSG00000059377	ENST00000416849;ENST00000458722	T;T	0.69685	-0.42;-0.42	3.04	-6.09	0.02145	.	.	.	.	.	T	0.39655	0.1086	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.23084	-1.0198	9	0.51188	T	0.08	.	7.6398	0.28288	0.2897:0.1465:0.5639:0.0	.	187	E7EP08	.	M	187;186	ENSP00000389414:V187M;ENSP00000411274:V186M	ENSP00000389414:V187M	V	+	1	0	TBXAS1	139298924	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.716000	0.01878	-1.757000	0.01316	-0.218000	0.12543	GTG	TBXAS1	-	NULL	ENSG00000059377		0.403	TBXAS1-004	NOVEL	basic	protein_coding	TBXAS1	HGNC	protein_coding	OTTHUMT00000348376.1	127	0.78	1	G			139652455	139652455	+1	no_errors	ENST00000416849	ensembl	human	known	69_37n	missense	134	16.25	26	SNP	0.000	A
TCEA2	6919	genome.wustl.edu	37	20	62698301	62698301	+	Missense_Mutation	SNP	C	C	T	rs568253300		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:62698301C>T	ENST00000343484.5	+	3	338	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	TCEA2_ENST00000395053.3_Missense_Mutation_p.R57W|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000361317.2_Missense_Mutation_p.R30W	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	57	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CAACGCCCTTCGGAAGCAGAG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		19869	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													81.0	63.0	69.0					20																	62698301		2203	4300	6503	-	-	-	SO:0001583	missense	0			U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.169C>T	20.37:g.62698301C>T	ENSP00000343515:p.Arg57Trp		B3KNM1|Q8TD37|Q8TD38	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_TFIIS_N,pfam_Znf_TFIIS,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII	p.R57W	ENST00000343484.5	37	c.169	CCDS13553.1	20	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807777	0.70797	.	.	ENSG00000171703	ENST00000361317;ENST00000343484;ENST00000395053;ENST00000339217;ENST00000415602;ENST00000440819;ENST00000458442	.	.	.	4.99	2.74	0.32292	Transcription factor IIS, N-terminal (4);Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type (1);	0.000000	0.85682	D	0.000000	D	0.85813	0.5784	H	0.96633	3.855	0.53688	D	0.999973	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;0.994;1.0	D	0.88215	0.2893	9	0.87932	D	0	-16.888	10.3312	0.43823	0.1769:0.7399:0.0:0.0832	.	57;57;30;30;57	Q15560;Q6IB64;Q5JRI7;B3KNM1;Q86VL0	TCEA2_HUMAN;.;.;.;.	W	30;57;57;30;30;30;30	.	ENSP00000339432:R30W	R	+	1	2	TCEA2	62168745	0.830000	0.29337	0.998000	0.56505	0.984000	0.73092	0.119000	0.15626	1.231000	0.43661	0.563000	0.77884	CGG	TCEA2	-	pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pirsf_TF_IIS-rel,tigrfam_TFSII	ENSG00000171703		0.622	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEA2	HGNC	protein_coding	OTTHUMT00000080277.2	144	0.00	0	C	NM_198723		62698301	62698301	+1	no_errors	ENST00000343484	ensembl	human	known	69_37n	missense	237	10.19	27	SNP	0.892	T
TECTA	7007	genome.wustl.edu	37	11	121039473	121039473	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:121039473C>A	ENST00000392793.1	+	20	6109	c.5838C>A	c.(5836-5838)taC>taA	p.Y1946*	TECTA_ENST00000264037.2_Nonsense_Mutation_p.Y1946*			O75443	TECTA_HUMAN	tectorin alpha	1946	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AACATCCTTACCGCCAGGGTG	0.453																																						dbGAP											0													192.0	181.0	185.0					11																	121039473		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.5838C>A	11.37:g.121039473C>A	ENSP00000376543:p.Tyr1946*			Nonsense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_Zona_pellucida_Endoglin/CD105,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	p.Y1946*	ENST00000392793.1	37	c.5838	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	C	46	12.240068	0.99649	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	.	.	.	5.81	3.96	0.45880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7047	0.45948	0.0:0.7953:0.0:0.2047	.	.	.	.	X	1946	.	ENSP00000264037:Y1946X	Y	+	3	2	TECTA	120544683	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.996000	0.40776	0.815000	0.34398	0.557000	0.71058	TAC	TECTA	-	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	ENSG00000109927		0.453	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	361	0.00	0	C	NM_005422		121039473	121039473	+1	no_errors	ENST00000264037	ensembl	human	known	69_37n	nonsense	112	11.81	15	SNP	1.000	A
TFE3	7030	genome.wustl.edu	37	X	48895889	48895889	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:48895889T>C	ENST00000315869.7	-	4	872	c.613A>G	c.(613-615)Acc>Gcc	p.T205A	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	205					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						CCGAGTGTGGTGGACAGGTAC	0.662			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	dbGAP		Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	0													32.0	28.0	30.0					X																	48895889		2202	4299	6501	-	-	-	SO:0001583	missense	0			X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.613A>G	X.37:g.48895889T>C	ENSP00000314129:p.Thr205Ala		A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.T205A	ENST00000315869.7	37	c.613	CCDS14315.3	X	.	.	.	.	.	.	.	.	.	.	T	15.74	2.921381	0.52653	.	.	ENSG00000068323	ENST00000315869	T	0.15718	2.4	5.9	4.71	0.59529	.	0.101670	0.64402	D	0.000003	T	0.16854	0.0405	M	0.72118	2.19	0.41327	D	0.987217	P	0.37781	0.608	B	0.28991	0.097	T	0.04191	-1.0970	10	0.22109	T	0.4	-25.7119	11.2458	0.48996	0.0:0.0:0.1514:0.8486	.	205	P19532	TFE3_HUMAN	A	205	ENSP00000314129:T205A	ENSP00000314129:T205A	T	-	1	0	TFE3	48782833	0.998000	0.40836	0.888000	0.34837	0.729000	0.41735	2.898000	0.48672	0.810000	0.34279	0.417000	0.27973	ACC	TFE3	-	NULL	ENSG00000068323		0.662	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFE3	HGNC	protein_coding	OTTHUMT00000058872.2	145	0.00	0	T	NM_006521		48895889	48895889	-1	no_errors	ENST00000315869	ensembl	human	known	69_37n	missense	156	17.37	33	SNP	0.926	C
TFPI2	7980	genome.wustl.edu	37	7	93518425	93518425	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:93518425C>T	ENST00000222543.5	-	3	694	c.382G>A	c.(382-384)Ggt>Agt	p.G128S	AC002076.10_ENST00000435257.1_RNA|TFPI2_ENST00000545378.1_Intron|GNGT1_ENST00000455502.1_Intron	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	128	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TGACACCCACCGGAAAAGAAT	0.438																																						dbGAP											0													82.0	92.0	89.0					7																	93518425		2203	4300	6503	-	-	-	SO:0001583	missense	0			L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.382G>A	7.37:g.93518425C>T	ENSP00000222543:p.Gly128Ser		Q66ME8|Q8NAK6|Q9UC86	Missense_Mutation	SNP	pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.G128S	ENST00000222543.5	37	c.382	CCDS5632.1	7	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401998	0.62288	.	.	ENSG00000105825	ENST00000222543;ENST00000451238	T;T	0.59772	0.24;0.28	5.37	1.46	0.22682	Proteinase inhibitor I2, Kunitz metazoa (5);	0.153579	0.64402	N	0.000018	T	0.61426	0.2346	M	0.75264	2.295	0.09310	N	0.999991	D;D	0.63046	0.992;0.992	P;P	0.53313	0.723;0.723	T	0.53858	-0.8379	10	0.54805	T	0.06	.	5.2778	0.15659	0.1194:0.6283:0.1158:0.1365	.	117;128	Q8NAK6;P48307	.;TFPI2_HUMAN	S	128;49	ENSP00000222543:G128S;ENSP00000416370:G49S	ENSP00000222543:G128S	G	-	1	0	TFPI2	93356361	0.005000	0.15991	0.002000	0.10522	0.003000	0.03518	0.719000	0.25881	0.343000	0.23821	-0.373000	0.07131	GGT	TFPI2	-	pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	ENSG00000105825		0.438	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPI2	HGNC	protein_coding	OTTHUMT00000254720.2	36	0.00	0	C	NM_006528		93518425	93518425	-1	no_errors	ENST00000222543	ensembl	human	known	69_37n	missense	90	23.73	28	SNP	0.008	T
TG	7038	genome.wustl.edu	37	8	133918967	133918967	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:133918967G>T	ENST00000220616.4	+	17	3709	c.3669G>T	c.(3667-3669)gaG>gaT	p.E1223D	TG_ENST00000377869.1_Missense_Mutation_p.E1223D	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1223					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)		p.S1222fs*8(1)		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)		ACGCGTCGGAGGTGGTTGGTG	0.647																																						dbGAP											1	Deletion - Frameshift(1)	prostate(1)											75.0	68.0	70.0					8																	133918967		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.3669G>T	8.37:g.133918967G>T	ENSP00000220616:p.Glu1223Asp		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.E1223D	ENST00000220616.4	37	c.3669	CCDS34944.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.791|3.791	-0.043646|-0.043646	0.07452|0.07452	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616|ENST00000518505	T;T|.	0.61392|.	0.12;0.11|.	5.38|5.38	-10.8|-10.8	0.00216|0.00216	.|.	1.419820|.	0.04320|.	N|.	0.350592|.	T|T	0.07954|0.07954	0.0199|0.0199	N|N	0.04297|0.04297	-0.235|-0.235	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.14868|0.14868	-1.0457|-1.0457	10|5	0.02654|.	T|.	1|.	.|.	1.0832|1.0832	0.01647|0.01647	0.2932:0.3471:0.2143:0.1453|0.2932:0.3471:0.2143:0.1453	.|.	1223|.	P01266|.	THYG_HUMAN|.	D|M	1223;29;1223|167	ENSP00000367100:E1223D;ENSP00000220616:E1223D|.	ENSP00000220616:E1223D|.	E|R	+|+	3|2	2|0	TG|TG	133988149|133988149	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-6.037000|-6.037000	0.00084|0.00084	-2.006000|-2.006000	0.00958|0.00958	0.655000|0.655000	0.94253|0.94253	GAG|AGG	TG	-	pirsf_Thyroglobulin	ENSG00000042832		0.647	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	77	0.00	0	G	NM_003235		133918967	133918967	+1	no_errors	ENST00000220616	ensembl	human	known	69_37n	missense	131	16.03	25	SNP	0.000	T
TGFBR3	7049	genome.wustl.edu	37	1	92224261	92224261	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:92224261T>G	ENST00000525962.1	-	3	354	c.293A>C	c.(292-294)aAg>aCg	p.K98T	TGFBR3_ENST00000212355.4_Missense_Mutation_p.K98T|TGFBR3_ENST00000370399.2_Missense_Mutation_p.K98T|TGFBR3_ENST00000468996.2_5'UTR			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	98					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CACAACAGACTTGTGGTGGAT	0.507																																						dbGAP											0													159.0	138.0	145.0					1																	92224261		2203	4300	6503	-	-	-	SO:0001583	missense	0			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.293A>C	1.37:g.92224261T>G	ENSP00000436127:p.Lys98Thr		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.K98T	ENST00000525962.1	37	c.293	CCDS30770.1	1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.429864	0.83776	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	5.5	5.5	0.81552	.	0.049586	0.85682	D	0.000000	T	0.50069	0.1594	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.55579	-0.8119	10	0.87932	D	0	-23.0496	15.6112	0.76721	0.0:0.0:0.0:1.0	.	98;98	Q03167-2;Q03167	.;TGBR3_HUMAN	T	98	ENSP00000212355:K98T;ENSP00000359426:K98T;ENSP00000436127:K98T;ENSP00000432638:K98T	ENSP00000212355:K98T	K	-	2	0	TGFBR3	91996849	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.173000	0.71937	2.097000	0.63578	0.459000	0.35465	AAG	TGFBR3	-	NULL	ENSG00000069702		0.507	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFBR3	HGNC	protein_coding	OTTHUMT00000382308.1	223	0.00	0	T	NM_003243		92224261	92224261	-1	no_errors	ENST00000212355	ensembl	human	known	69_37n	missense	36	17.78	8	SNP	1.000	G
TGFBRAP1	9392	genome.wustl.edu	37	2	105885905	105885905	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:105885905G>T	ENST00000393359.2	-	11	2656	c.2230C>A	c.(2230-2232)Cac>Aac	p.H744N	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.H744N			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	744					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TCGGTGGCGTGGCGGTTCAGC	0.642																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	dbGAP											0													26.0	28.0	28.0					2																	105885905		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.2230C>A	2.37:g.105885905G>T	ENSP00000377027:p.His744Asn		A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron	p.H744N	ENST00000393359.2	37	c.2230	CCDS2067.1	2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338056	0.81911	.	.	ENSG00000135966	ENST00000393359;ENST00000258449;ENST00000543724	T;T	0.56275	0.47;0.47	5.54	5.54	0.83059	Vacuolar sorting protein 39/Transforming growth factor beta receptor-associated domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.69088	0.3072	M	0.72118	2.19	0.80722	D	1	D;P	0.54397	0.966;0.909	P;P	0.57548	0.676;0.823	T	0.69258	-0.5192	10	0.48119	T	0.1	-26.9518	19.4619	0.94921	0.0:0.0:1.0:0.0	.	199;744	B3KMM9;Q8WUH2	.;TGFA1_HUMAN	N	744;744;199	ENSP00000377027:H744N;ENSP00000258449:H744N	ENSP00000258449:H744N	H	-	1	0	TGFBRAP1	105252337	1.000000	0.71417	0.809000	0.32408	0.531000	0.34715	7.474000	0.81024	2.611000	0.88343	0.462000	0.41574	CAC	TGFBRAP1	-	pfam_VPS39/TGF_beta_rcpt-assoc_2	ENSG00000135966		0.642	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBRAP1	HGNC	protein_coding	OTTHUMT00000253354.2	73	0.00	0	G	NM_004257		105885905	105885905	-1	no_errors	ENST00000258449	ensembl	human	known	69_37n	missense	77	10.47	9	SNP	1.000	T
TGM1	7051	genome.wustl.edu	37	14	24724650	24724650	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:24724650G>A	ENST00000206765.6	-	11	1688	c.1565C>T	c.(1564-1566)gCc>gTc	p.A522V	TGM1_ENST00000544573.1_Missense_Mutation_p.A80V	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	522					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TGTGCCGATGGCCTTCTCCTC	0.542																																						dbGAP											0													142.0	113.0	123.0					14																	24724650		2203	4300	6503	-	-	-	SO:0001583	missense	0			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1565C>T	14.37:g.24724650G>A	ENSP00000206765:p.Ala522Val		B4DWR7|Q197M4	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.A522V	ENST00000206765.6	37	c.1565	CCDS9622.1	14	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189871	0.78789	.	.	ENSG00000092295	ENST00000206765;ENST00000544573	T;T	0.73681	-0.77;-0.77	5.42	4.53	0.55603	.	0.050078	0.85682	D	0.000000	T	0.52741	0.1753	N	0.20807	0.61	0.48511	D	0.999662	P	0.42692	0.787	B	0.33121	0.158	T	0.53521	-0.8427	10	0.21014	T	0.42	-37.7681	11.1913	0.48687	0.089:0.0:0.911:0.0	.	522	P22735	TGM1_HUMAN	V	522;80	ENSP00000206765:A522V;ENSP00000439446:A80V	ENSP00000206765:A522V	A	-	2	0	TGM1	23794490	0.496000	0.26059	1.000000	0.80357	0.994000	0.84299	1.211000	0.32382	2.531000	0.85337	0.655000	0.94253	GCC	TGM1	-	NULL	ENSG00000092295		0.542	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM1	HGNC	protein_coding	OTTHUMT00000073160.6	385	0.00	0	G	NM_000359		24724650	24724650	-1	no_errors	ENST00000206765	ensembl	human	known	69_37n	missense	263	26.87	97	SNP	1.000	A
TGM3	7053	genome.wustl.edu	37	20	2320545	2320545	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:2320545C>T	ENST00000381458.5	+	12	1909	c.1846C>T	c.(1846-1848)Ctc>Ttc	p.L616F		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	616					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CGTGCAGATGCTCTTCTCCAA	0.622																																						dbGAP											0													115.0	88.0	97.0					20																	2320545		2203	4300	6503	-	-	-	SO:0001583	missense	0			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1846C>T	20.37:g.2320545C>T	ENSP00000370867:p.Leu616Phe		A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.L616F	ENST00000381458.5	37	c.1846	CCDS33435.1	20	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122176	0.56613	.	.	ENSG00000125780	ENST00000381458	T	0.69040	-0.37	5.26	3.21	0.36854	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.513809	0.19862	N	0.104405	T	0.59891	0.2227	L	0.56769	1.78	0.34636	D	0.720099	P	0.49961	0.93	B	0.40101	0.319	T	0.72197	-0.4363	10	0.54805	T	0.06	-0.01	10.7733	0.46336	0.3425:0.6575:0.0:0.0	.	616	Q08188	TGM3_HUMAN	F	616	ENSP00000370867:L616F	ENSP00000370867:L616F	L	+	1	0	TGM3	2268545	0.041000	0.20044	1.000000	0.80357	0.832000	0.47134	-0.238000	0.08977	1.184000	0.42957	0.561000	0.74099	CTC	TGM3	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C	ENSG00000125780		0.622	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM3	HGNC	protein_coding	OTTHUMT00000077579.2	404	0.00	0	C	NM_003245		2320545	2320545	+1	no_errors	ENST00000381458	ensembl	human	known	69_37n	missense	188	25.98	66	SNP	1.000	T
TGS1	96764	genome.wustl.edu	37	8	56695306	56695306	+	Splice_Site	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:56695306G>T	ENST00000260129.5	+	2	578		c.e2-1			NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1						7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			CTGCTTCGCAGGGATCGAAAA	0.318																																					Esophageal Squamous(34;275 823 4842 34837 48447)	dbGAP											0													70.0	77.0	75.0					8																	56695306		2203	4298	6501	-	-	-	SO:0001630	splice_region_variant	0			AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.102-1G>T	8.37:g.56695306G>T			A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Splice_Site	SNP	-	e2-1	ENST00000260129.5	37	c.102-1	CCDS34894.1	8	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148057	0.57151	.	.	ENSG00000137574	ENST00000260129	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1982	0.86899	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TGS1	56857860	1.000000	0.71417	0.996000	0.52242	0.663000	0.39108	6.681000	0.74523	2.559000	0.86315	0.563000	0.77884	.	TGS1	-	-	ENSG00000137574		0.318	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGS1	HGNC	protein_coding	OTTHUMT00000378152.1	90	0.00	0	G	NM_024831	Intron	56695306	56695306	+1	no_errors	ENST00000260129	ensembl	human	known	69_37n	splice_site	77	13.48	12	SNP	1.000	T
THBS4	7060	genome.wustl.edu	37	5	79366572	79366572	+	Splice_Site	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:79366572A>G	ENST00000350881.2	+	12	1749	c.1559A>G	c.(1558-1560)cAg>cGg	p.Q520R	CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Splice_Site_p.Q429R|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	520					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CTGAATGAGCAGGTACCTGCT	0.498																																						dbGAP											0													102.0	89.0	94.0					5																	79366572		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1560+1A>G	5.37:g.79366572A>G			B2R909|Q86TG2	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.Q520R	ENST00000350881.2	37	c.1559	CCDS4049.1	5	.	.	.	.	.	.	.	.	.	.	A	10.38	1.334982	0.24253	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.98493	-4.96;-4.96	5.17	4.01	0.46588	.	0.114425	0.64402	D	0.000009	D	0.94804	0.8322	L	0.34521	1.04	0.80722	D	1	B	0.12630	0.006	B	0.12156	0.007	D	0.91055	0.4881	10	0.15952	T	0.53	-16.7114	10.8419	0.46720	0.9262:0.0:0.0738:0.0	.	520	P35443	TSP4_HUMAN	R	520;429	ENSP00000339730:Q520R;ENSP00000422298:Q429R	ENSP00000339730:Q520R	Q	+	2	0	THBS4	79402328	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	5.078000	0.64425	0.996000	0.38943	0.533000	0.62120	CAG	THBS4	-	pfam_Thrombospondin_3-like_rpt	ENSG00000113296		0.498	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS4	HGNC	protein_coding	OTTHUMT00000226977.1	245	0.00	0	A		Missense_Mutation	79366572	79366572	+1	no_errors	ENST00000350881	ensembl	human	known	69_37n	missense	105	11.76	14	SNP	1.000	G
THOC5	8563	genome.wustl.edu	37	22	29940566	29940566	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr22:29940566G>A	ENST00000490103.1	-	3	245	c.123C>T	c.(121-123)gcC>gcT	p.A41A	THOC5_ENST00000397871.1_Silent_p.A41A|THOC5_ENST00000397872.1_Silent_p.A41A|THOC5_ENST00000397873.2_Silent_p.A41A	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	41	Interaction with CSF1R. {ECO:0000250}.|Interaction with THOC7.				blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GATCCACCTCGGCCTCCTCAC	0.527																																						dbGAP											0													97.0	87.0	91.0					22																	29940566		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.123C>T	22.37:g.29940566G>A			O60839|Q9UPZ5	Silent	SNP	pfam_THO_Thoc5	p.A41	ENST00000490103.1	37	c.123	CCDS13859.1	22																																																																																			THOC5	-	NULL	ENSG00000100296		0.527	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC5	HGNC	protein_coding	OTTHUMT00000322097.1	139	0.71	1	G	NM_003678		29940566	29940566	-1	no_errors	ENST00000397871	ensembl	human	known	69_37n	silent	83	19.23	20	SNP	0.121	A
THRA	7067	genome.wustl.edu	37	17	38243001	38243001	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:38243001C>T	ENST00000264637.4	+	7	1198	c.618C>T	c.(616-618)gaC>gaT	p.D206D	THRA_ENST00000584985.1_Silent_p.D206D|THRA_ENST00000394121.4_Silent_p.D206D|THRA_ENST00000546243.1_Silent_p.D206D|THRA_ENST00000450525.2_Silent_p.D206D	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	206	Ligand-binding.				cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CCATGCCGGACGGAGACAAGG	0.577											OREG0024390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													95.0	72.0	80.0					17																	38243001		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.618C>T	17.37:g.38243001C>T		876	A8K3B5|P21205|Q8N6A1|Q96H73	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.D206	ENST00000264637.4	37	c.618	CCDS11360.1	17																																																																																			THRA	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000126351		0.577	THRA-001	KNOWN	basic|CCDS	protein_coding	THRA	HGNC	protein_coding	OTTHUMT00000257160.2	122	0.00	0	C			38243001	38243001	+1	no_errors	ENST00000264637	ensembl	human	known	69_37n	silent	120	22.29	35	SNP	0.608	T
TICAM1	148022	genome.wustl.edu	37	19	4816955	4816955	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:4816955G>A	ENST00000248244.5	-	2	1664	c.1435C>T	c.(1435-1437)Cga>Tga	p.R479*		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	479					apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GACCCCTGTCGCGTGAGGTTG	0.622																																						dbGAP											0													55.0	47.0	50.0					19																	4816955		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1435C>T	19.37:g.4816955G>A	ENSP00000248244:p.Arg479*		B3Y691|O75532|Q86XP8|Q96GA0	Nonsense_Mutation	SNP	superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam	p.R479*	ENST00000248244.5	37	c.1435	CCDS12136.1	19	.	.	.	.	.	.	.	.	.	.	G	37	6.561237	0.97667	.	.	ENSG00000127666	ENST00000248244	.	.	.	4.49	2.12	0.27331	.	0.532892	0.13642	N	0.372868	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3379	9.0711	0.36493	0.0:0.1296:0.6358:0.2346	.	.	.	.	X	479	.	ENSP00000248244:R479X	R	-	1	2	TICAM1	4767955	0.005000	0.15991	0.018000	0.16275	0.743000	0.42351	1.016000	0.29976	0.973000	0.38340	0.313000	0.20887	CGA	TICAM1	-	pirsf_Tol-interleuk_rcpt_adapt_Ticam	ENSG00000127666		0.622	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TICAM1	HGNC	protein_coding	OTTHUMT00000450435.1	76	0.00	0	G	NM_014261		4816955	4816955	-1	no_errors	ENST00000248244	ensembl	human	known	69_37n	nonsense	146	14.62	25	SNP	0.005	A
TIMM50	92609	genome.wustl.edu	37	19	39971352	39971352	+	5'Flank	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:39971352C>A	ENST00000607714.1	+	0	0				TIMM50_ENST00000599794.1_5'Flank|TIMM50_ENST00000544017.1_5'Flank|TIMM50_ENST00000314349.4_Silent_p.A56A			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)						cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCAAACGCGCCTGCGGCAATC	0.667																																						dbGAP											0													42.0	48.0	46.0					19																	39971352		2202	4300	6502	-	-	-	SO:0001631	upstream_gene_variant	0			BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8			19.37:g.39971352C>A	Exception_encountered		Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Silent	SNP	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF	p.A56	ENST00000607714.1	37	c.168		19																																																																																			TIMM50	-	NULL	ENSG00000105197		0.667	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	TIMM50	HGNC	protein_coding	OTTHUMT00000470728.1	75	0.00	0	C	NM_001001563		39971352	39971352	+1	no_errors	ENST00000314349	ensembl	human	known	69_37n	silent	153	16.39	30	SNP	0.000	A
TIMM9	26520	genome.wustl.edu	37	14	58875846	58875846	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:58875846A>G	ENST00000395159.2	-	6	701	c.176T>C	c.(175-177)aTg>aCg	p.M59T	TIMM9_ENST00000555593.1_Missense_Mutation_p.M59T|TIMM9_ENST00000555404.1_Missense_Mutation_p.M59T|RP11-517O13.1_ENST00000556734.1_RNA|TIMM9_ENST00000556007.2_Intron|TIMM9_ENST00000216463.4_5'UTR|TIMM9_ENST00000555061.1_Missense_Mutation_p.M59T	NM_012460.2	NP_036592.1	Q9Y5J7	TIM9_HUMAN	translocase of inner mitochondrial membrane 9 homolog (yeast)	59					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial intermembrane space protein transporter complex (GO:0042719)|mitochondrion (GO:0005739)	chaperone binding (GO:0051087)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			kidney(2)|skin(1)	3						TCTTTGTGTCATTTTTAAATA	0.378																																						dbGAP											0													81.0	75.0	77.0					14																	58875846		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF150100	CCDS9735.1	14q22.3-q24	2008-07-04	2001-11-28		ENSG00000100575	ENSG00000100575			11819	protein-coding gene	gene with protein product		607384	"""translocase of inner mitochondrial membrane 9 (yeast) homolog"""			10552927, 14726512	Standard	NM_012460		Approved	TIM9A	uc001xds.3	Q9Y5J7	OTTHUMG00000140322	ENST00000395159.2:c.176T>C	14.37:g.58875846A>G	ENSP00000378588:p.Met59Thr		B2R584	Missense_Mutation	SNP	pfam_Tim8/9/10/13_Znf-like,superfamily_Tim8/9/10/13_Znf-like	p.M59T	ENST00000395159.2	37	c.176	CCDS9735.1	14	.	.	.	.	.	.	.	.	.	.	A	12.34	1.909042	0.33721	.	.	ENSG00000100575	ENST00000395159;ENST00000555593;ENST00000555061;ENST00000555404	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	5.55	5.55	0.83447	.	0.113287	0.85682	D	0.000000	T	0.62134	0.2403	.	.	.	0.80722	D	1	P	0.46277	0.875	P	0.47891	0.56	T	0.62751	-0.6788	9	0.41790	T	0.15	-16.7996	15.517	0.75833	1.0:0.0:0.0:0.0	.	59	Q9Y5J7	TIM9_HUMAN	T	59	ENSP00000378588:M59T;ENSP00000451006:M59T;ENSP00000450638:M59T;ENSP00000451198:M59T	ENSP00000216463:M59T	M	-	2	0	TIMM9	57945599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.965000	0.93393	2.326000	0.78906	0.533000	0.62120	ATG	TIMM9	-	pfam_Tim8/9/10/13_Znf-like,superfamily_Tim8/9/10/13_Znf-like	ENSG00000100575		0.378	TIMM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM9	HGNC	protein_coding	OTTHUMT00000276936.2	96	0.00	0	A			58875846	58875846	-1	no_errors	ENST00000395159	ensembl	human	known	69_37n	missense	62	23.46	19	SNP	1.000	G
TKT	7086	genome.wustl.edu	37	3	53263358	53263358	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:53263358C>T	ENST00000462138.1	-	9	1290	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	TKT_ENST00000423525.2_Missense_Mutation_p.R401H|TKT_ENST00000423516.1_Missense_Mutation_p.R409H|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000296289.6_Missense_Mutation_p.R354H			P29401	TKT_HUMAN	transketolase	401					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		GGCGGCCATGCGAATCTGGTC	0.612																																					Colon(133;1506 2347 35238 42177)	dbGAP											0													56.0	51.0	53.0					3																	53263358		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.1202G>A	3.37:g.53263358C>T	ENSP00000417773:p.Arg401His		A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Missense_Mutation	SNP	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.R401H	ENST00000462138.1	37	c.1202	CCDS2871.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.212153	0.95069	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289;ENST00000414014	D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06	5.33	4.42	0.53409	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.96494	0.8856	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.995	D	0.97178	0.9849	10	0.87932	D	0	-25.2402	16.0767	0.80974	0.0:0.8665:0.1335:0.0	.	409;318;401	E7EPA7;B3KSI4;P29401	.;.;TKT_HUMAN	H	401;401;409;354;235	ENSP00000417773:R401H;ENSP00000405455:R401H;ENSP00000391481:R409H;ENSP00000296289:R354H	ENSP00000296289:R354H	R	-	2	0	TKT	53238398	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.079000	0.71291	2.490000	0.84030	0.655000	0.94253	CGC	TKT	-	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd	ENSG00000163931		0.612	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TKT	HGNC	protein_coding	OTTHUMT00000350356.1	80	0.00	0	C			53263358	53263358	-1	no_errors	ENST00000423525	ensembl	human	known	69_37n	missense	132	13.73	21	SNP	1.000	T
TLN1	7094	genome.wustl.edu	37	9	35707171	35707171	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:35707171C>T	ENST00000314888.9	-	37	5206	c.4853G>A	c.(4852-4854)cGg>cAg	p.R1618Q	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Missense_Mutation_p.R1618Q	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1618	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCGAGGGCCCGGGCTGTCTG	0.622																																						dbGAP											0													48.0	56.0	53.0					9																	35707171		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.4853G>A	9.37:g.35707171C>T	ENSP00000316029:p.Arg1618Gln		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.R1618Q	ENST00000314888.9	37	c.4853	CCDS35009.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.657016	0.96724	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.13778	2.56;2.56	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.21881	0.0527	M	0.84585	2.705	0.80722	D	1	D	0.53885	0.963	B	0.34991	0.193	T	0.30621	-0.9972	10	0.52906	T	0.07	-24.7838	19.7999	0.96502	0.0:1.0:0.0:0.0	.	1618	Q9Y490	TLN1_HUMAN	Q	1618	ENSP00000316029:R1618Q;ENSP00000442981:R1618Q	ENSP00000316029:R1618Q	R	-	2	0	TLN1	35697171	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.810000	0.86072	2.691000	0.91804	0.561000	0.74099	CGG	TLN1	-	superfamily_Vinculin/catenin	ENSG00000137076		0.622	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	37	0.00	0	C	NM_006289		35707171	35707171	-1	no_errors	ENST00000314888	ensembl	human	known	69_37n	missense	42	40.28	29	SNP	1.000	T
TLR5	7100	genome.wustl.edu	37	1	223283984	223283984	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:223283984T>C	ENST00000540964.1	-	4	2851	c.2390A>G	c.(2389-2391)cAg>cGg	p.Q797R	TLR5_ENST00000342210.6_Missense_Mutation_p.Q797R			O60602	TLR5_HUMAN	toll-like receptor 5	797	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CAACTGGTACTGGGACAAGGA	0.488																																						dbGAP											0													92.0	82.0	85.0					1																	223283984		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.2390A>G	1.37:g.223283984T>C	ENSP00000440643:p.Gln797Arg		B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.Q797R	ENST00000540964.1	37	c.2390	CCDS31033.1	1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.333401	0.60853	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.08193	3.12;3.12;3.12	5.35	3.0	0.34707	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.065335	0.64402	D	0.000008	T	0.19565	0.0470	L	0.57536	1.79	0.46927	D	0.999258	P	0.48911	0.917	D	0.63192	0.912	T	0.00201	-1.1926	10	0.56958	D	0.05	.	8.2662	0.31815	0.0:0.0698:0.1337:0.7965	.	797	O60602	TLR5_HUMAN	R	797	ENSP00000440643:Q797R;ENSP00000355846:Q797R;ENSP00000340089:Q797R	ENSP00000340089:Q797R	Q	-	2	0	TLR5	221350607	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	2.986000	0.49370	0.332000	0.23536	-0.399000	0.06403	CAG	TLR5	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom	ENSG00000187554		0.488	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR5	HGNC	protein_coding		141	0.00	0	T	NM_003268		223283984	223283984	-1	no_errors	ENST00000342210	ensembl	human	known	69_37n	missense	130	15.03	23	SNP	1.000	C
TLR5	7100	genome.wustl.edu	37	1	223286290	223286290	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:223286290G>A	ENST00000540964.1	-	4	545	c.84C>T	c.(82-84)ggC>ggT	p.G28G	TLR5_ENST00000342210.6_Silent_p.G28G			O60602	TLR5_HUMAN	toll-like receptor 5	28					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGGCTATTCGGCCATCAAAGG	0.527																																						dbGAP											0													56.0	55.0	56.0					1																	223286290		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.84C>T	1.37:g.223286290G>A			B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Silent	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.G28	ENST00000540964.1	37	c.84	CCDS31033.1	1																																																																																			TLR5	-	NULL	ENSG00000187554		0.527	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR5	HGNC	protein_coding		66	0.00	0	G	NM_003268		223286290	223286290	-1	no_errors	ENST00000342210	ensembl	human	known	69_37n	silent	68	10.53	8	SNP	0.000	A
TLR7	51284	genome.wustl.edu	37	X	12885643	12885643	+	5'UTR	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:12885643A>G	ENST00000380659.3	+	0	85				TLR7_ENST00000484204.1_3'UTR	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7						cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	GGCACCTCTCATGCTCTGCTC	0.398																																						dbGAP											0													223.0	160.0	179.0					X																	12885643		692	1591	2283	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.-55A>G	X.37:g.12885643A>G			D1CS69|Q9NR98	RNA	SNP	-	NULL	ENST00000380659.3	37	NULL	CCDS14151.1	X																																																																																			TLR7	-	-	ENSG00000196664		0.398	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR7	HGNC	protein_coding	OTTHUMT00000055769.1	387	0.26	1	A	NM_016562		12885643	12885643	+1	no_errors	ENST00000484204	ensembl	human	known	69_37n	rna	82	12.77	12	SNP	0.000	G
TM9SF2	9375	genome.wustl.edu	37	13	100193853	100193853	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr13:100193853A>G	ENST00000376387.4	+	9	1139	c.949A>G	c.(949-951)Atg>Gtg	p.M317V		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	317					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					CTTATCTGGAATGGTAGCTAT	0.368																																						dbGAP											0													245.0	219.0	227.0					13																	100193853		2203	4300	6503	-	-	-	SO:0001583	missense	0			U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.949A>G	13.37:g.100193853A>G	ENSP00000365567:p.Met317Val		A8K399|Q2TAY5	Missense_Mutation	SNP	pfam_EMP70	p.M317V	ENST00000376387.4	37	c.949	CCDS9493.1	13	.	.	.	.	.	.	.	.	.	.	A	17.19	3.326851	0.60743	.	.	ENSG00000125304	ENST00000376387	T	0.38722	1.12	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.46405	0.1391	M	0.71871	2.18	0.80722	D	1	B;B	0.24186	0.099;0.051	B;B	0.28305	0.088;0.088	T	0.43475	-0.9389	10	0.42905	T	0.14	-34.0539	15.1335	0.72545	1.0:0.0:0.0:0.0	.	283;317	E9PHW5;Q99805	.;TM9S2_HUMAN	V	317	ENSP00000365567:M317V	ENSP00000365567:M317V	M	+	1	0	TM9SF2	98991854	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.139000	0.94554	1.965000	0.57142	0.477000	0.44152	ATG	TM9SF2	-	pfam_EMP70	ENSG00000125304		0.368	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF2	HGNC	protein_coding	OTTHUMT00000045602.3	411	0.00	0	A			100193853	100193853	+1	no_errors	ENST00000376387	ensembl	human	known	69_37n	missense	107	11.57	14	SNP	1.000	G
TMC3	342125	genome.wustl.edu	37	15	81625307	81625307	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:81625307T>C	ENST00000359440.5	-	22	2891	c.2756A>G	c.(2755-2757)gAg>gGg	p.E919G	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.E920G	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GGGGTACAGCTCCACAATGTC	0.483																																						dbGAP											0													68.0	67.0	67.0					15																	81625307		1956	4143	6099	-	-	-	SO:0001583	missense	0			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2756A>G	15.37:g.81625307T>C	ENSP00000352413:p.Glu919Gly			Missense_Mutation	SNP	pfam_TMC	p.E919G	ENST00000359440.5	37	c.2756	CCDS45324.1	15	.	.	.	.	.	.	.	.	.	.	T	24.4	4.525948	0.85600	.	.	ENSG00000188869	ENST00000359440	T	0.79845	-1.31	5.31	5.31	0.75309	.	0.451681	0.17804	U	0.161465	D	0.82490	0.5048	M	0.61703	1.905	0.46499	D	0.999079	D	0.56035	0.974	P	0.47673	0.554	D	0.84819	0.0795	10	0.87932	D	0	-12.4572	15.2893	0.73854	0.0:0.0:0.0:1.0	.	919	Q7Z5M5	TMC3_HUMAN	G	919	ENSP00000352413:E919G	ENSP00000352413:E919G	E	-	2	0	TMC3	79412362	1.000000	0.71417	0.144000	0.22314	0.334000	0.28698	3.984000	0.56923	2.001000	0.58596	0.533000	0.62120	GAG	TMC3	-	NULL	ENSG00000188869		0.483	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMC3	HGNC	protein_coding	OTTHUMT00000417795.3	38	0.00	0	T	NM_181841		81625307	81625307	-1	no_errors	ENST00000359440	ensembl	human	known	69_37n	missense	28	22.22	8	SNP	1.000	C
TMEM190	147744	genome.wustl.edu	37	19	55889413	55889413	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:55889413G>A	ENST00000291934.3	+	5	394	c.376G>A	c.(376-378)Gtc>Atc	p.V126I	CTD-2105E13.15_ENST00000595064.1_RNA	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	transmembrane protein 190	126					hematopoietic progenitor cell differentiation (GO:0002244)	inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GTCCAAGTCCGTCTCGCTGCT	0.677																																						dbGAP											0													36.0	32.0	33.0					19																	55889413		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF442729	CCDS33113.1	19q13.42	2011-09-28				ENSG00000160472			29632	protein-coding gene	gene with protein product						21273369	Standard	NM_139172		Approved	MDAC1	uc002qkt.1	Q8WZ59		ENST00000291934.3:c.376G>A	19.37:g.55889413G>A	ENSP00000291934:p.Val126Ile		A6NJL5	Missense_Mutation	SNP	superfamily_P_trefoil	p.V126I	ENST00000291934.3	37	c.376	CCDS33113.1	19	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030539	0.54790	.	.	ENSG00000160472	ENST00000291934	.	.	.	3.02	1.97	0.26223	.	0.213389	0.23431	N	0.048248	T	0.14227	0.0344	L	0.27053	0.805	0.09310	N	1	P	0.38300	0.626	B	0.21151	0.033	T	0.19877	-1.0292	9	0.87932	D	0	-21.3174	5.8082	0.18452	0.1511:0.0:0.8489:0.0	.	126	Q8WZ59	TM190_HUMAN	I	126	.	ENSP00000291934:V126I	V	+	1	0	TMEM190	60581225	0.002000	0.14202	0.111000	0.21465	0.038000	0.13279	0.670000	0.25157	0.837000	0.34925	0.313000	0.20887	GTC	TMEM190	-	NULL	ENSG00000160472		0.677	TMEM190-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM190	HGNC	protein_coding	OTTHUMT00000453042.1	36	0.00	0	G	NM_139172		55889413	55889413	+1	no_errors	ENST00000291934	ensembl	human	known	69_37n	missense	89	15.09	16	SNP	0.133	A
TMPRSS7	344805	genome.wustl.edu	37	3	111795764	111795764	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:111795764A>G	ENST00000452346.2	+	16	2000	c.1997A>G	c.(1996-1998)tAt>tGt	p.Y666C	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.Y540C			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	666	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CTCGGGATGTATGTTCAGGGG	0.433																																						dbGAP											0													205.0	198.0	200.0					3																	111795764		1981	4180	6161	-	-	-	SO:0001583	missense	0			BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1997A>G	3.37:g.111795764A>G	ENSP00000398236:p.Tyr666Cys		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.Y540C	ENST00000452346.2	37	c.1619		3	.	.	.	.	.	.	.	.	.	.	A	16.48	3.133801	0.56828	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	T;T	0.61040	0.14;0.14	6.11	6.11	0.99139	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.552949	0.19234	N	0.119331	T	0.65554	0.2702	M	0.82517	2.595	0.36636	D	0.876577	P;P	0.43938	0.822;0.733	P;B	0.46850	0.529;0.286	T	0.73448	-0.3979	10	0.42905	T	0.14	.	9.1212	0.36788	0.9194:0.0:0.0806:0.0	.	666;540	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	C	666;654;640;540	ENSP00000398236:Y666C;ENSP00000411645:Y540C	ENSP00000411645:Y540C	Y	+	2	0	TMPRSS7	113278454	0.998000	0.40836	1.000000	0.80357	0.823000	0.46562	3.143000	0.50608	2.343000	0.79666	0.533000	0.62120	TAT	TMPRSS7	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000176040		0.433	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	TMPRSS7	HGNC	protein_coding	OTTHUMT00000347592.2	396	0.00	0	A	XM_293599		111795764	111795764	+1	no_errors	ENST00000419127	ensembl	human	known	69_37n	missense	166	12.17	23	SNP	1.000	G
TNKS2	80351	genome.wustl.edu	37	10	93601946	93601946	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:93601946delA	ENST00000371627.4	+	16	2236	c.1857delA	c.(1855-1857)acafs	p.T619fs		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	619					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.N622fs*29(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				CAGACCCTACAAAAAAAAACA	0.393																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)											66.0	69.0	68.0					10																	93601946		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1857delA	10.37:g.93601946delA	ENSP00000360689:p.Thr619fs		B2RBD3|Q9H8F2|Q9HAS4	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.N622fs	ENST00000371627.4	37	c.1857	CCDS7417.1	10																																																																																			TNKS2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000107854		0.393	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	HGNC	protein_coding	OTTHUMT00000049374.1	77	0.00	0	A	NM_025235		93601946	93601946	+1	no_errors	ENST00000371627	ensembl	human	known	69_37n	frame_shift_del	27	25.00	9	DEL	0.997	-
TNRC6B	23112	genome.wustl.edu	37	22	40719021	40719021	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr22:40719021G>T	ENST00000454349.2	+	23	5489	c.5278G>T	c.(5278-5280)Gga>Tga	p.G1760*	TNRC6B_ENST00000402203.1_Nonsense_Mutation_p.G956*|TNRC6B_ENST00000301923.9_Nonsense_Mutation_p.G956*|TNRC6B_ENST00000335727.9_Nonsense_Mutation_p.G1650*	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1760					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						AGATCCCGTGGGACCTGCTCT	0.647																																						dbGAP											0													19.0	23.0	21.0					22																	40719021		1959	4132	6091	-	-	-	SO:0001587	stop_gained	0			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.5278G>T	22.37:g.40719021G>T	ENSP00000401946:p.Gly1760*		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Nonsense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.G1760*	ENST00000454349.2	37	c.5278	CCDS54533.1	22	.	.	.	.	.	.	.	.	.	.	G	45	11.298062	0.99543	.	.	ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-5.0271	20.4238	0.99064	0.0:0.0:1.0:0.0	.	.	.	.	X	956;956;1760;1650;1650	.	ENSP00000306759:G956X	G	+	1	0	TNRC6B	39048967	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	6.230000	0.72301	2.828000	0.97474	0.655000	0.94253	GGA	TNRC6B	-	NULL	ENSG00000100354		0.647	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	TNRC6B	HGNC	protein_coding		49	0.00	0	G			40719021	40719021	+1	no_errors	ENST00000454349	ensembl	human	known	69_37n	nonsense	50	20.63	13	SNP	1.000	T
TNXB	7148	genome.wustl.edu	37	6	32039961	32039961	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:32039961A>T	ENST00000375244.3	-	13	4997	c.4796T>A	c.(4795-4797)gTc>gAc	p.V1599D	TNXB_ENST00000375247.2_Missense_Mutation_p.V1599D			P22105	TENX_HUMAN	tenascin XB	1681	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACCCTCAGGGACTGTCCATGA	0.622																																						dbGAP											0													34.0	36.0	36.0					6																	32039961		1970	4137	6107	-	-	-	SO:0001583	missense	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4796T>A	6.37:g.32039961A>T	ENSP00000364393:p.Val1599Asp		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.V1599D	ENST00000375244.3	37	c.4796		6	.	.	.	.	.	.	.	.	.	.	A	16.29	3.082335	0.55861	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57273	0.41;0.41	5.09	2.63	0.31362	.	0.433914	0.17202	N	0.183097	T	0.44973	0.1319	M	0.93062	3.375	0.09310	N	0.999994	P	0.40398	0.716	P	0.48189	0.57	T	0.51505	-0.8697	10	0.12430	T	0.62	.	5.4101	0.16344	0.7621:0.0:0.0851:0.1528	.	1599	P22105-3	.	D	1599	ENSP00000364393:V1599D;ENSP00000364396:V1599D	ENSP00000364393:V1599D	V	-	2	0	TNXB	32147939	0.997000	0.39634	0.180000	0.23079	0.865000	0.49528	2.382000	0.44345	0.257000	0.21650	0.482000	0.46254	GTC	TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168477		0.622	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	68	0.00	0	A	NM_019105		32039961	32039961	-1	no_errors	ENST00000375247	ensembl	human	known	69_37n	missense	105	12.50	15	SNP	0.055	T
TOP3A	7156	genome.wustl.edu	37	17	18205630	18205630	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:18205630C>A	ENST00000321105.5	-	7	976	c.762G>T	c.(760-762)gaG>gaT	p.E254D	TOP3A_ENST00000542570.1_Missense_Mutation_p.E159D|TOP3A_ENST00000540524.1_5'Flank	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	254					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CTTTGAACCGCTCCACCACAA	0.542																																						dbGAP											0													40.0	45.0	43.0					17																	18205630		2203	4300	6503	-	-	-	SO:0001583	missense	0			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.762G>T	17.37:g.18205630C>A	ENSP00000321636:p.Glu254Asp		A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.E254D	ENST00000321105.5	37	c.762	CCDS11194.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.99|12.99	2.104723|2.104723	0.37145|0.37145	.|.	.|.	ENSG00000177302|ENSG00000177302	ENST00000412083|ENST00000321105;ENST00000542570	.|T;T	.|0.24908	.|1.83;1.83	6.07|6.07	1.45|1.45	0.22620|0.22620	.|DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, domain 2 (1);DNA topoisomerase, type IA, central region, subdomain 1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.24586|0.24586	0.0596|0.0596	N|N	0.25094|0.25094	0.71|0.71	0.80722|0.80722	D|D	1|1	.|P;P	.|0.37636	.|0.603;0.603	.|P;P	.|0.48873	.|0.593;0.593	T|T	0.04191|0.04191	-1.0970|-1.0970	5|10	.|0.45353	.|T	.|0.12	-37.8814|-37.8814	10.3436|10.3436	0.43893|0.43893	0.0:0.6081:0.0:0.3919|0.0:0.6081:0.0:0.3919	.|.	.|159;254	.|B4DK80;Q13472	.|.;TOP3A_HUMAN	S|D	234|254;159	.|ENSP00000321636:E254D;ENSP00000442336:E159D	.|ENSP00000321636:E254D	A|E	-|-	1|3	0|2	TOP3A|TOP3A	18146355|18146355	0.998000|0.998000	0.40836|0.40836	0.999000|0.999000	0.59377|0.59377	0.931000|0.931000	0.56810|0.56810	0.567000|0.567000	0.23608|0.23608	0.444000|0.444000	0.26612|0.26612	0.655000|0.655000	0.94253|0.94253	GCG|GAG	TOP3A	-	pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_2,prints_Topo_IA	ENSG00000177302		0.542	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP3A	HGNC	protein_coding	OTTHUMT00000132052.2	45	0.00	0	C			18205630	18205630	-1	no_errors	ENST00000321105	ensembl	human	known	69_37n	missense	45	29.69	19	SNP	0.996	A
TOR3A	64222	genome.wustl.edu	37	1	179054887	179054887	+	Silent	SNP	C	C	T	rs547437958	byFrequency	TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:179054887C>T	ENST00000367627.3	+	3	1250	c.498C>T	c.(496-498)caC>caT	p.H166H	TOR3A_ENST00000352445.6_Silent_p.H166H	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	166					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TGTCGTTCCACGGCTGGTCTG	0.582													C|||	2	0.000399361	0.0	0.0	5008	,	,		20249	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													88.0	73.0	78.0					1																	179054887		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"""ATP-dependant interferon responsive"""	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.498C>T	1.37:g.179054887C>T			B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Silent	SNP	pfam_Torsin	p.H166	ENST00000367627.3	37	c.498	CCDS1329.1	1																																																																																			TOR3A	-	pfam_Torsin	ENSG00000186283		0.582	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR3A	HGNC	protein_coding	OTTHUMT00000084927.1	87	0.00	0	C	NM_022371		179054887	179054887	+1	no_errors	ENST00000367627	ensembl	human	known	69_37n	silent	153	15.00	27	SNP	0.636	T
TOX3	27324	genome.wustl.edu	37	16	52484429	52484429	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:52484429G>T	ENST00000219746.9	-	4	722	c.438C>A	c.(436-438)taC>taA	p.Y146*	TOX3_ENST00000407228.3_Nonsense_Mutation_p.Y141*	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	146					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)	p.Y141*(2)|p.Y146*(2)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GATCCTGCCGGTACTGGGACA	0.527																																						dbGAP											4	Substitution - Nonsense(4)	endometrium(4)											79.0	82.0	81.0					16																	52484429		2043	4190	6233	-	-	-	SO:0001587	stop_gained	0			U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.438C>A	16.37:g.52484429G>T	ENSP00000219746:p.Tyr146*		B4DRD0|B5MCW4	Nonsense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.Y146*	ENST00000219746.9	37	c.438	CCDS54009.1	16	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099757	0.37048	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	.	.	.	5.85	-0.102	0.13613	.	0.317042	0.30791	N	0.008875	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.3181	0.21202	0.3902:0.0:0.4882:0.1217	.	.	.	.	X	146;141	.	ENSP00000219746:Y146X	Y	-	3	2	TOX3	51041930	0.997000	0.39634	0.652000	0.29579	0.000000	0.00434	0.524000	0.22940	0.109000	0.17891	-1.283000	0.01379	TAC	TOX3	-	NULL	ENSG00000103460		0.527	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TOX3	HGNC	protein_coding	OTTHUMT00000422534.1	226	0.00	0	G	XM_049037		52484429	52484429	-1	no_errors	ENST00000219746	ensembl	human	known	69_37n	nonsense	42	19.23	10	SNP	0.995	T
TP53	7157	genome.wustl.edu	37	17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCAGCTCTCGGAACATCTCG	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(1)	GRCh37	CM004908	TP53	M							62.0	48.0	53.0					17																	7574003		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1024C>T	17.37:g.7574003G>A	ENSP00000269305:p.Arg342*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R342*	ENST00000269305.4	37	c.1024	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.061927	0.97246	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	3.43	0.39272	.	0.217683	0.37906	N	0.001893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-0.3792	6.4477	0.21885	0.0845:0.0:0.5925:0.323	.	.	.	.	X	342;342;331	.	ENSP00000269305:R342X	R	-	1	2	TP53	7514728	0.820000	0.29190	0.702000	0.30337	0.859000	0.49053	2.169000	0.42434	0.657000	0.30906	0.561000	0.74099	CGA	TP53	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	132	0.00	0	G	NM_000546		7574003	7574003	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	nonsense	61	29.07	25	SNP	0.307	A
TRAF2	7186	genome.wustl.edu	37	9	139802645	139802645	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:139802645C>T	ENST00000247668.2	+	5	542	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000536468.1_Missense_Mutation_p.R164W|TRAF2_ENST00000359662.3_Missense_Mutation_p.R216W	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	164					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CCTGAGCTGCCGGCATTGCCG	0.672																																						dbGAP											0													21.0	23.0	22.0					9																	139802645		2203	4299	6502	-	-	-	SO:0001583	missense	0			U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.490C>T	9.37:g.139802645C>T	ENSP00000247668:p.Arg164Trp		A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.R216W	ENST00000247668.2	37	c.646	CCDS7013.1	9	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729899	0.69074	.	.	ENSG00000127191	ENST00000419057;ENST00000536468;ENST00000429509;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645	T;T;T;T;T	0.37058	1.71;1.5;1.49;1.5;1.22	4.01	0.293	0.15742	Zinc finger, TRAF-type (1);	0.424966	0.24262	N	0.040065	T	0.46288	0.1385	M	0.62723	1.935	0.33745	D	0.619924	D;D;D;D	0.71674	0.985;0.985;0.998;0.977	P;P;P;P	0.61397	0.828;0.828;0.888;0.462	T	0.57183	-0.7855	10	0.72032	D	0.01	-11.5104	6.6666	0.23044	0.5778:0.2909:0.1314:0.0	.	153;164;216;164	Q12933-3;Q12933-4;Q12933-2;Q12933	.;.;.;TRAF2_HUMAN	W	164;164;164;188;164;216;216	ENSP00000405860:R164W;ENSP00000446414:R164W;ENSP00000406524:R164W;ENSP00000247668:R164W;ENSP00000352685:R216W	ENSP00000247668:R164W	R	+	1	2	TRAF2	138922466	0.998000	0.40836	0.777000	0.31699	0.959000	0.62525	0.909000	0.28558	0.227000	0.20999	0.561000	0.74099	CGG	TRAF2	-	pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF	ENSG00000127191		0.672	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF2	HGNC	protein_coding	OTTHUMT00000055166.1	29	0.00	0	C	NM_021138		139802645	139802645	+1	no_errors	ENST00000359662	ensembl	human	known	69_37n	missense	60	21.05	16	SNP	0.980	T
TRAK2	66008	genome.wustl.edu	37	2	202285229	202285229	+	Start_Codon_SNP	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:202285229A>G	ENST00000332624.3	-	2	430	c.2T>C	c.(1-3)aTg>aCg	p.M1T	TRAK2_ENST00000451703.1_5'UTR|TRAK2_ENST00000430254.1_Start_Codon_SNP_p.M1T	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	1					protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GGATTGACTCATGCAGGATCC	0.408																																						dbGAP											0													151.0	142.0	145.0					2																	202285229		2203	4300	6503	-	-	-	SO:0001582	initiator_codon_variant	0			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.2T>C	2.37:g.202285229A>G	ENSP00000328875:p.Met1Thr		E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.M1T	ENST00000332624.3	37	c.2	CCDS2347.1	2	.	.	.	.	.	.	.	.	.	.	A	17.54	3.415739	0.62511	.	.	ENSG00000115993	ENST00000332624;ENST00000430254;ENST00000440597	T;T	0.32515	3.24;1.45	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000010	T	0.48295	0.1492	.	.	.	0.80722	D	1	P;P	0.50156	0.717;0.932	P;P	0.58391	0.599;0.838	T	0.51434	-0.8706	9	0.87932	D	0	.	10.661	0.45702	1.0:0.0:0.0:0.0	.	1;1	E7EV21;O60296	.;TRAK2_HUMAN	T	1	ENSP00000328875:M1T;ENSP00000409333:M1T	ENSP00000328875:M1T	M	-	2	0	TRAK2	201993474	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.407000	0.44565	2.011000	0.59026	0.460000	0.39030	ATG	TRAK2	-	NULL	ENSG00000115993		0.408	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAK2	HGNC	protein_coding	OTTHUMT00000256284.3	177	0.00	0	A	NM_015049	Missense_Mutation	202285229	202285229	-1	no_errors	ENST00000332624	ensembl	human	known	69_37n	missense	83	15.31	15	SNP	1.000	G
TRAPPC9	83696	genome.wustl.edu	37	8	141231656	141231656	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:141231656G>T	ENST00000438773.2	-	17	2591	c.2458C>A	c.(2458-2460)Ctg>Atg	p.L820M	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.L918M|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.L811M	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	820					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GGACTGGACAGGGGAAAGCCA	0.493																																						dbGAP											0													84.0	71.0	75.0					8																	141231656		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.2458C>A	8.37:g.141231656G>T	ENSP00000405060:p.Leu820Met		Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	pfam_TRAPP_II_complex_Trs120	p.L918M	ENST00000438773.2	37	c.2752	CCDS55278.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.69|15.69	2.906622|2.906622	0.52333|0.52333	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773|ENST00000520857	.|.	.|.	.|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.065649|.	0.64402|.	D|.	0.000012|.	T|T	0.49762|0.49762	0.1576|0.1576	L|L	0.27053|0.27053	0.805|0.805	0.36276|0.36276	D|D	0.855457|0.855457	D;P;P;P|.	0.58268|.	0.982;0.889;0.834;0.919|.	P;P;B;P|.	0.62740|.	0.906;0.695;0.386;0.584|.	T|T	0.58901|0.58901	-0.7554|-0.7554	9|6	0.48119|0.54805	T|T	0.1|0.06	.|.	12.238|12.238	0.54526|0.54526	0.0:0.0:0.8301:0.1699|0.0:0.0:0.8301:0.1699	.|.	918;820;811;918|.	A6NIF0;Q96Q05;Q96Q05-3;Q96Q05-2|.	.;TPPC9_HUMAN;.;.|.	M|H	918;811;820|663	.|.	ENSP00000373978:L811M|ENSP00000430116:P663H	L|P	-|-	1|2	2|0	TRAPPC9|TRAPPC9	141300838|141300838	0.998000|0.998000	0.40836|0.40836	0.967000|0.967000	0.41034|0.41034	0.842000|0.842000	0.47809|0.47809	3.171000|3.171000	0.50824|0.50824	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	CTG|CCT	TRAPPC9	-	pfam_TRAPP_II_complex_Trs120	ENSG00000167632		0.493	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	TRAPPC9	HGNC	protein_coding	OTTHUMT00000377749.1	186	0.00	0	G	NM_031466		141231656	141231656	-1	no_errors	ENST00000389328	ensembl	human	known	69_37n	missense	134	18.29	30	SNP	0.963	T
TRIM24	8805	genome.wustl.edu	37	7	138252293	138252293	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:138252293C>A	ENST00000343526.4	+	10	1813	c.1598C>A	c.(1597-1599)cCt>cAt	p.P533H	TRIM24_ENST00000415680.2_Missense_Mutation_p.P499H|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	533					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GTTCTTCCTCCTCATCCTCAA	0.428																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	dbGAP											0													130.0	119.0	122.0					7																	138252293		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.1598C>A	7.37:g.138252293C>A	ENSP00000340507:p.Pro533His		A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain	p.P533H	ENST00000343526.4	37	c.1598	CCDS5847.1	7	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858087	0.51376	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.78707	-1.18;-1.2	5.75	5.75	0.90469	.	0.367898	0.31859	N	0.006953	T	0.75925	0.3916	L	0.44542	1.39	0.41364	D	0.987441	P;D	0.53151	0.93;0.958	P;P	0.51135	0.459;0.66	T	0.70766	-0.4783	10	0.12103	T	0.63	-7.967	14.3998	0.67034	0.1478:0.8522:0.0:0.0	.	533;499	O15164;O15164-2	TIF1A_HUMAN;.	H	533;444;499;457	ENSP00000340507:P533H;ENSP00000390829:P499H	ENSP00000340507:P533H	P	+	2	0	TRIM24	137902833	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.436000	0.44819	2.719000	0.93026	0.655000	0.94253	CCT	TRIM24	-	NULL	ENSG00000122779		0.428	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM24	HGNC	protein_coding	OTTHUMT00000341814.1	138	0.72	1	C	NM_015905		138252293	138252293	+1	no_errors	ENST00000343526	ensembl	human	known	69_37n	missense	45	10.00	5	SNP	1.000	A
TRIM33	51592	genome.wustl.edu	37	1	114969881	114969881	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:114969881C>T	ENST00000358465.2	-	8	1421	c.1338G>A	c.(1336-1338)cgG>cgA	p.R446R	TRIM33_ENST00000369543.2_Silent_p.R446R|TRIM33_ENST00000450349.2_Silent_p.R54R	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	446					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGGATCACACCGTGCTTTCA	0.358			T	RET	papillary thyroid																																	dbGAP		Dom	yes		1	1p13	51592	""" tripartite motif-containing 33 (PTC7,TIF1G)"""		E	0													106.0	106.0	106.0					1																	114969881		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1338G>A	1.37:g.114969881C>T			O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.G183D	ENST00000358465.2	37	c.548	CCDS872.1	1	.	.	.	.	.	.	.	.	.	.	C	7.627	0.677978	0.14841	.	.	ENSG00000197323	ENST00000448034	.	.	.	4.94	-4.97	0.03029	.	.	.	.	.	T	0.19765	0.0475	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41770	-0.9490	4	.	.	.	-9.9179	1.5316	0.02536	0.2383:0.3638:0.1293:0.2686	.	.	.	.	D	183	.	.	G	-	2	0	TRIM33	114771404	0.013000	0.17824	0.899000	0.35326	0.879000	0.50718	-1.223000	0.02962	-0.580000	0.05944	-0.302000	0.09304	GGT	TRIM33	-	NULL	ENSG00000197323		0.358	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM33	HGNC	protein_coding	OTTHUMT00000032854.1	113	0.00	0	C	NM_015906		114969881	114969881	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000448034	ensembl	human	known	69_37n	missense	21	19.23	5	SNP	0.164	T
TRIM46	80128	genome.wustl.edu	37	1	155148580	155148580	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:155148580A>G	ENST00000334634.4	+	3	542	c.542A>G	c.(541-543)gAg>gGg	p.E181G	TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000543729.1_Missense_Mutation_p.E188G|KRTCAP2_ENST00000490672.1_5'Flank|TRIM46_ENST00000545012.1_Missense_Mutation_p.E55G|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368382.1_Missense_Mutation_p.E158G|TRIM46_ENST00000392451.2_Missense_Mutation_p.E181G|TRIM46_ENST00000368385.4_Missense_Mutation_p.E181G|TRIM46_ENST00000368383.3_Missense_Mutation_p.E181G|KRTCAP2_ENST00000295682.4_5'Flank	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	181						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)			CCACCACTAGAGGCCACCAAG	0.637																																						dbGAP											0													107.0	101.0	103.0					1																	155148580		2203	4300	6503	-	-	-	SO:0001583	missense	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.542A>G	1.37:g.155148580A>G	ENSP00000334657:p.Glu181Gly		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	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.E181G	ENST00000334634.4	37	c.542	CCDS1097.1	1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.489428	0.84962	.	.	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000545012;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T;T;T	0.68479	0.67;0.41;-0.33;0.61;0.33;0.11;0.14	5.36	5.36	0.76844	.	0.057237	0.64402	D	0.000002	T	0.76414	0.3984	M	0.76170	2.325	0.42852	D	0.994084	D;D;P;D;D	0.89917	0.994;1.0;0.948;1.0;0.982	D;D;P;D;P	0.77557	0.909;0.99;0.533;0.99;0.873	T	0.80348	-0.1420	10	0.72032	D	0.01	.	13.6062	0.62048	1.0:0.0:0.0:0.0	.	168;181;158;181;181	F5H5Z2;Q5VT61;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;.;TRI46_HUMAN;.	G	188;168;181;55;181;181;158;181	ENSP00000442719:E188G;ENSP00000357369:E181G;ENSP00000440254:E55G;ENSP00000376245:E181G;ENSP00000357367:E181G;ENSP00000357366:E158G;ENSP00000334657:E181G	ENSP00000334657:E181G	E	+	2	0	TRIM46	153415204	1.000000	0.71417	0.964000	0.40570	0.991000	0.79684	8.810000	0.91950	2.154000	0.67381	0.533000	0.62120	GAG	TRIM46	-	NULL	ENSG00000163462		0.637	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM46	HGNC	protein_coding	OTTHUMT00000086728.1	86	0.00	0	A	NM_025058		155148580	155148580	+1	no_errors	ENST00000334634	ensembl	human	known	69_37n	missense	175	11.62	23	SNP	1.000	G
TRIM73	375593	genome.wustl.edu	37	7	75028494	75028494	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:75028494C>T	ENST00000437796.1	+	1	296	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	TRIM73_ENST00000450434.1_5'UTR|TRIM73_ENST00000323819.3_Missense_Mutation_p.R93W|TRIM73_ENST00000430211.1_Missense_Mutation_p.R93W|TRIM73_ENST00000447409.2_Missense_Mutation_p.R93W			Q86UV7	TRI73_HUMAN	tripartite motif containing 73	93						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						CGTGCACCACCGGAACCCGCT	0.667																																						dbGAP											0													7.0	20.0	16.0					7																	75028494		868	2273	3141	-	-	-	SO:0001583	missense	0			AF498998	CCDS34665.1	7q11.23	2013-01-09	2011-01-25	2006-03-31		ENSG00000178809		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	18162	protein-coding gene	gene with protein product		612549	"""tripartite motif-containing 50B"", ""tripartite motif-containing 73"""	TRIM50B			Standard	NM_198924		Approved		uc003udc.1	Q86UV7		ENST00000437796.1:c.277C>T	7.37:g.75028494C>T	ENSP00000417040:p.Arg93Trp		Q8N0S3	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.R93W	ENST00000437796.1	37	c.277	CCDS34665.1	7	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349968	0.61183	.	.	ENSG00000178809	ENST00000323819;ENST00000430211;ENST00000447409;ENST00000437796	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	2.31	2.31	0.28768	Zinc finger, RING/FYVE/PHD-type (2);Zinc finger, B-box (6);	0.385077	0.21047	N	0.081073	T	0.53094	0.1775	L	0.39633	1.23	0.25326	N	0.989079	D;D	0.76494	0.999;0.999	P;P	0.56648	0.803;0.803	T	0.39333	-0.9619	10	0.51188	T	0.08	.	9.2609	0.37612	0.0:0.7754:0.2246:0.0	.	93;93	Q86UV6;Q86UV7	TRI74_HUMAN;TRI73_HUMAN	W	93	ENSP00000318615:R93W;ENSP00000410121:R93W;ENSP00000407135:R93W;ENSP00000417040:R93W	ENSP00000318615:R93W	R	+	1	2	TRIM73	74866430	0.997000	0.39634	0.999000	0.59377	0.951000	0.60555	1.590000	0.36654	1.612000	0.50221	0.400000	0.26472	CGG	TRIM73	-	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	ENSG00000178809		0.667	TRIM73-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM73	HGNC	protein_coding	OTTHUMT00000342950.1	61	0.00	0	C			75028494	75028494	+1	no_errors	ENST00000323819	ensembl	human	known	69_37n	missense	115	21.77	32	SNP	0.996	T
TRIO	7204	genome.wustl.edu	37	5	14481719	14481719	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:14481719G>T	ENST00000344204.4	+	45	6481	c.6457G>T	c.(6457-6459)Gga>Tga	p.G2153*	TRIO_ENST00000537187.1_Nonsense_Mutation_p.G2153*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2153					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCGGCTGCAAGGATTCGACGT	0.488																																						dbGAP											0													149.0	146.0	147.0					5																	14481719		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6457G>T	5.37:g.14481719G>T	ENSP00000339299:p.Gly2153*		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.G2153*	ENST00000344204.4	37	c.6457	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	G	48	14.264826	0.99787	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206;ENST00000541447	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.885	0.92372	0.0:0.0:1.0:0.0	.	.	.	.	X	2153;2153;1840;233	.	ENSP00000339299:G2153X	G	+	1	0	TRIO	14534719	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.824000	0.99380	2.452000	0.82932	0.563000	0.77884	GGA	TRIO	-	NULL	ENSG00000038382		0.488	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	265	0.38	1	G	NM_007118		14481719	14481719	+1	no_errors	ENST00000344204	ensembl	human	known	69_37n	nonsense	253	10.25	29	SNP	1.000	T
TRIOBP	11078	genome.wustl.edu	37	22	38111850	38111850	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr22:38111850G>A	ENST00000406386.3	+	6	792	c.537G>A	c.(535-537)cgG>cgA	p.R179R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	179					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGAGGCCTCGGGAGGGGCCGA	0.647																																						dbGAP											0													33.0	41.0	38.0					22																	38111850		1918	4114	6032	-	-	-	SO:0001819	synonymous_variant	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.537G>A	22.37:g.38111850G>A			B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R179	ENST00000406386.3	37	c.537	CCDS43015.1	22																																																																																			TRIOBP	-	NULL	ENSG00000100106		0.647	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	44	0.00	0	G			38111850	38111850	+1	no_errors	ENST00000406386	ensembl	human	known	69_37n	silent	62	21.52	17	SNP	1.000	A
TRO	7216	genome.wustl.edu	37	X	54954167	54954167	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:54954167T>C	ENST00000173898.7	+	11	1943	c.1831T>C	c.(1831-1833)Tcc>Ccc	p.S611P	TRO_ENST00000420798.2_Missense_Mutation_p.S142P|TRO_ENST00000375041.2_Missense_Mutation_p.S214P|TRO_ENST00000319167.8_Missense_Mutation_p.S611P|TRO_ENST00000399736.1_Missense_Mutation_p.S214P|TRO_ENST00000375022.4_Missense_Mutation_p.S611P|SNORA11_ENST00000408823.1_RNA	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	611	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GGGCTTGCGCTCCTACCACGA	0.488																																						dbGAP											0													60.0	59.0	59.0					X																	54954167		2199	4300	6499	-	-	-	SO:0001583	missense	0			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1831T>C	X.37:g.54954167T>C	ENSP00000173898:p.Ser611Pro		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.S611P	ENST00000173898.7	37	c.1831	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	T	15.66	2.899265	0.52227	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T;T;T;T	0.05649	3.41;3.41;3.41;3.41;3.41;3.41	3.1	3.1	0.35709	.	.	.	.	.	T	0.20820	0.0501	M	0.70275	2.135	0.30932	N	0.726775	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.85130	0.992;0.979;0.994;0.997	T	0.03095	-1.1073	9	0.87932	D	0	.	8.7124	0.34391	0.0:0.0:0.0:1.0	.	214;214;611;611	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	P	611;611;611;214;214;142;214	ENSP00000173898:S611P;ENSP00000318278:S611P;ENSP00000364162:S611P;ENSP00000382641:S214P;ENSP00000405126:S142P;ENSP00000364181:S214P	ENSP00000173898:S611P	S	+	1	0	TRO	54970892	0.998000	0.40836	0.937000	0.37676	0.963000	0.63663	2.793000	0.47845	1.452000	0.47756	0.417000	0.27973	TCC	TRO	-	pfam_MAGE,pfscan_MAGE	ENSG00000067445		0.488	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	204	0.00	0	T	NM_016157		54954167	54954167	+1	no_errors	ENST00000173898	ensembl	human	known	69_37n	missense	71	13.41	11	SNP	0.988	C
TRPM2	7226	genome.wustl.edu	37	21	45833947	45833947	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr21:45833947G>A	ENST00000397928.1	+	20	3581	c.3136G>A	c.(3136-3138)Gcc>Acc	p.A1046T	TRPM2_ENST00000397932.2_Missense_Mutation_p.A1046T|TRPM2_ENST00000300482.5_Missense_Mutation_p.A1046T|TRPM2_ENST00000300481.9_Missense_Mutation_p.A1026T|TRPM2_ENST00000498430.1_3'UTR|AP001065.2_ENST00000423310.1_RNA|AP001065.2_ENST00000456880.1_RNA	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1046					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCTCCTCATCGCCATGTTCAA	0.657																																						dbGAP											0													175.0	180.0	178.0					21																	45833947		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3136G>A	21.37:g.45833947G>A	ENSP00000381023:p.Ala1046Thr		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like	p.A1046T	ENST00000397928.1	37	c.3136	CCDS13710.1	21	.	.	.	.	.	.	.	.	.	.	G	34	5.397769	0.96009	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	D;D;D;D	0.99239	-5.61;-5.61;-5.61;-5.61	4.65	4.65	0.58169	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99573	0.9846	M	0.93939	3.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97889	1.0296	10	0.87932	D	0	-29.977	17.9055	0.88917	0.0:0.0:1.0:0.0	.	1046;832;1046	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	T	1046;1046;1026;1046	ENSP00000300482:A1046T;ENSP00000381023:A1046T;ENSP00000300481:A1026T;ENSP00000381026:A1046T	ENSP00000300481:A1026T	A	+	1	0	TRPM2	44658375	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.376000	0.97181	2.304000	0.77564	0.591000	0.81541	GCC	TRPM2	-	pfam_Ion_trans_dom	ENSG00000142185		0.657	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	HGNC	protein_coding	OTTHUMT00000098086.1	243	0.00	0	G	NM_003307		45833947	45833947	+1	no_errors	ENST00000300482	ensembl	human	known	69_37n	missense	290	19.44	70	SNP	1.000	A
TRPM3	80036	genome.wustl.edu	37	9	73152124	73152124	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:73152124G>A	ENST00000377111.2	-	25	4112	c.3869C>T	c.(3868-3870)aCg>aTg	p.T1290M	TRPM3_ENST00000377106.1_Missense_Mutation_p.T1162M|TRPM3_ENST00000358082.3_Missense_Mutation_p.T1152M|TRPM3_ENST00000396285.1_Missense_Mutation_p.T1149M|TRPM3_ENST00000360823.2_Missense_Mutation_p.T1152M|TRPM3_ENST00000396280.5_Missense_Mutation_p.T1139M|TRPM3_ENST00000377110.3_Missense_Mutation_p.T1290M|TRPM3_ENST00000357533.2_Missense_Mutation_p.T1294M|TRPM3_ENST00000377105.1_Missense_Mutation_p.T1149M|TRPM3_ENST00000423814.3_Missense_Mutation_p.T1317M|TRPM3_ENST00000408909.2_Missense_Mutation_p.T1149M|TRPM3_ENST00000396292.4_Missense_Mutation_p.T1162M	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1315					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGCGGCGTCCGTGCAGTCTGA	0.602																																						dbGAP											0													118.0	109.0	112.0					9																	73152124		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3869C>T	9.37:g.73152124G>A	ENSP00000366315:p.Thr1290Met		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.T1317M	ENST00000377111.2	37	c.3950		9	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388788	0.61956	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T;T	0.57907	0.37;0.44;0.42;0.42;0.39;0.43;0.39;0.45;0.42;0.42;0.44	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.67757	0.2927	L	0.40543	1.245	0.58432	D	0.999998	D;D;D;D;D;D;D;P	0.89917	0.984;0.992;1.0;0.973;0.973;1.0;0.987;0.954	P;P;D;P;P;D;P;B	0.83275	0.831;0.753;0.996;0.571;0.473;0.996;0.85;0.421	T	0.63795	-0.6556	10	0.48119	T	0.1	-20.3982	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1290;1290;1280;1294;1152;1149;1262;1149	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.;.	M	1290;1290;1162;1152;1149;1294;1149;1149;1162;1152;1317	ENSP00000366315:T1290M;ENSP00000366314:T1290M;ENSP00000366310:T1162M;ENSP00000354066:T1152M;ENSP00000366309:T1149M;ENSP00000350140:T1294M;ENSP00000386127:T1149M;ENSP00000379581:T1149M;ENSP00000379587:T1162M;ENSP00000350791:T1152M;ENSP00000389542:T1317M	ENSP00000350140:T1294M	T	-	2	0	TRPM3	72341944	1.000000	0.71417	0.973000	0.42090	0.616000	0.37450	7.502000	0.81614	2.941000	0.99782	0.655000	0.94253	ACG	TRPM3	-	NULL	ENSG00000083067		0.602	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	139	0.00	0	G	NM_206945		73152124	73152124	-1	no_errors	ENST00000423814	ensembl	human	known	69_37n	missense	117	12.03	16	SNP	1.000	A
TRPV3	162514	genome.wustl.edu	37	17	3422087	3422087	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:3422087C>T	ENST00000576742.1	-	15	2189	c.1868G>A	c.(1867-1869)gGc>gAc	p.G623D	TRPV3_ENST00000572519.1_Missense_Mutation_p.G623D|TRPV3_ENST00000301365.4_Missense_Mutation_p.G623D	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	623					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GCTGAAGCTGCCGTAGGAGCT	0.542																																						dbGAP											0													99.0	89.0	92.0					17																	3422087		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1868G>A	17.37:g.3422087C>T	ENSP00000461518:p.Gly623Asp		Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel	p.G623D	ENST00000576742.1	37	c.1868	CCDS11029.1	17	.	.	.	.	.	.	.	.	.	.	c	11.67	1.706464	0.30232	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.85629	-2.01	5.66	5.66	0.87406	.	0.341831	0.29616	N	0.011646	T	0.69052	0.3068	N	0.14661	0.345	0.41674	D	0.989254	B;B;B;B;P;P;P	0.38677	0.024;0.018;0.351;0.018;0.589;0.642;0.589	B;B;B;B;B;B;B	0.29077	0.037;0.06;0.096;0.098;0.058;0.096;0.058	T	0.69562	-0.5112	10	0.21014	T	0.42	-12.6567	12.4936	0.55914	0.0:0.924:0.0:0.0759	.	607;607;623;607;623;623;623	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	D	623;623;607	ENSP00000301365:G623D	ENSP00000301365:G623D	G	-	2	0	TRPV3	3368837	1.000000	0.71417	0.998000	0.56505	0.615000	0.37417	4.101000	0.57769	2.861000	0.98227	0.650000	0.86243	GGC	TRPV3	-	NULL	ENSG00000167723		0.542	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPV3	HGNC	protein_coding	OTTHUMT00000207379.2	283	0.00	0	C	NM_145068		3422087	3422087	-1	no_errors	ENST00000301365	ensembl	human	known	69_37n	missense	165	13.16	25	SNP	0.959	T
TRPV2	51393	genome.wustl.edu	37	17	16335335	16335335	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:16335335T>C	ENST00000338560.7	+	12	2109	c.1710T>C	c.(1708-1710)aaT>aaC	p.N570N	TRPV2_ENST00000577397.1_Silent_p.N140N|TRPV2_ENST00000583241.1_3'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	570					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CAGGCCCCAATGCCACAGAGT	0.627																																						dbGAP											0													49.0	49.0	49.0					17																	16335335		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1710T>C	17.37:g.16335335T>C			A6NML2|A8K0Z0|Q9Y670	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel	p.N570	ENST00000338560.7	37	c.1710	CCDS32576.1	17																																																																																			TRPV2	-	tigrfam_TRP_channel	ENSG00000187688		0.627	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV2	HGNC	protein_coding	OTTHUMT00000130464.2	64	0.00	0	T	NM_016113		16335335	16335335	+1	no_errors	ENST00000338560	ensembl	human	known	69_37n	silent	55	19.12	13	SNP	0.000	C
TSC2	7249	genome.wustl.edu	37	16	2134657	2134657	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:2134657C>T	ENST00000219476.3	+	34	5064	c.4434C>T	c.(4432-4434)gaC>gaT	p.D1478D	TSC2_ENST00000382538.6_Silent_p.D1363D|TSC2_ENST00000353929.4_Silent_p.D1435D|TSC2_ENST00000439673.2_Silent_p.D1375D|TSC2_ENST00000401874.2_Silent_p.D1411D|TSC2_ENST00000350773.4_Silent_p.D1455D|TSC2_ENST00000568454.1_Silent_p.D1422D	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1478					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TAGAGAGGGACGCCTTAAAGA	0.652			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													dbGAP	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													33.0	39.0	37.0					16																	2134657		2195	4287	6482	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4434C>T	16.37:g.2134657C>T			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_Rap_GAP,pfscan_Rap_GAP	p.R206C	ENST00000219476.3	37	c.616	CCDS10458.1	16																																																																																			TSC2	-	NULL	ENSG00000103197		0.652	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	34	0.00	0	C	NM_000548		2134657	2134657	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000569110	ensembl	human	novel	69_37n	missense	60	11.76	8	SNP	0.002	T
TSHZ1	10194	genome.wustl.edu	37	18	73000322	73000322	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr18:73000322G>C	ENST00000580243.1	+	2	3308	c.2960G>C	c.(2959-2961)aGt>aCt	p.S987T	TSHZ1_ENST00000322038.5_Missense_Mutation_p.S942T			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	987					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACATACATAAGTCATTTGGAG	0.458																																						dbGAP											0													110.0	97.0	101.0					18																	73000322		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2960G>C	18.37:g.73000322G>C	ENSP00000464391:p.Ser987Thr		O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.S987T	ENST00000580243.1	37	c.2960		18	.	.	.	.	.	.	.	.	.	.	G	3.540	-0.093858	0.07053	.	.	ENSG00000179981	ENST00000322038	T	0.42131	0.98	5.1	1.81	0.25067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.236197	0.49305	D	0.000155	T	0.31606	0.0802	N	0.16602	0.42	0.31474	N	0.668065	B	0.31752	0.338	B	0.37015	0.239	T	0.34976	-0.9807	10	0.72032	D	0.01	-7.1213	14.6662	0.68910	0.0992:0.0:0.9008:0.0	.	987	Q6ZSZ6	TSH1_HUMAN	T	942	ENSP00000323584:S942T	ENSP00000323584:S942T	S	+	2	0	TSHZ1	71129310	1.000000	0.71417	0.960000	0.40013	0.824000	0.46624	0.967000	0.29344	-0.171000	0.10797	0.533000	0.62120	AGT	TSHZ1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000179981		0.458	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	TSHZ1	HGNC	protein_coding	OTTHUMT00000444913.1	190	0.00	0	G	NM_005786		73000322	73000322	+1	no_errors	ENST00000580243	ensembl	human	known	69_37n	missense	227	15.87	43	SNP	1.000	C
TSPYL5	85453	genome.wustl.edu	37	8	98289557	98289557	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:98289557C>T	ENST00000322128.3	-	1	619	c.516G>A	c.(514-516)gcG>gcA	p.A172A		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	172					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TCTCCCCTGCCGCCCCTTTCT	0.652																																						dbGAP											0													78.0	90.0	86.0					8																	98289557		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.516G>A	8.37:g.98289557C>T			B3KRF0|Q9C0B3	Silent	SNP	pfam_NAP_family	p.A172	ENST00000322128.3	37	c.516	CCDS34927.1	8																																																																																			TSPYL5	-	NULL	ENSG00000180543		0.652	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL5	HGNC	protein_coding	OTTHUMT00000380611.1	104	0.00	0	C	NM_033512		98289557	98289557	-1	no_errors	ENST00000322128	ensembl	human	known	69_37n	silent	212	22.26	61	SNP	0.001	T
TTC25	83538	genome.wustl.edu	37	17	40087052	40087052	+	RNA	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:40087052T>C	ENST00000591658.1	+	0	144							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				GCTCTACCTGTGCGGGGAATT	0.512																																						dbGAP											0													28.0	29.0	29.0					17																	40087052		1853	4094	5947	-	-	-			0			AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"""Tetratricopeptide (TTC) repeat domain containing"""	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40087052T>C			Q6NX40|Q6PJ04|Q9H0K5	RNA	SNP	-	NULL	ENST00000591658.1	37	NULL		17	.	.	.	.	.	.	.	.	.	.	T	4.010	-0.000811	0.07819	.	.	ENSG00000204815	ENST00000377540	.	.	.	5.65	4.58	0.56647	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.217945	0.47093	N	0.000253	T	0.15392	0.0371	N	0.02286	-0.61	0.32071	N	0.594437	B;B	0.23377	0.008;0.084	B;B	0.18871	0.002;0.023	T	0.16630	-1.0396	8	0.15499	T	0.54	-23.7711	6.3928	0.21595	0.0:0.2158:0.0:0.7842	.	26;26	C9JGW6;Q96NG3	.;TTC25_HUMAN	R	26	.	ENSP00000366763:C26R	C	+	1	0	AC091172.1	37340578	0.994000	0.37717	0.936000	0.37596	0.361000	0.29550	1.644000	0.37228	1.163000	0.42636	0.533000	0.62120	TGC	TTC25	-	-	ENSG00000204815		0.512	TTC25-001	KNOWN	basic	processed_transcript	TTC25	HGNC	processed_transcript	OTTHUMT00000449237.1	37	0.00	0	T	NM_031421		40087052	40087052	+1	no_errors	ENST00000377540	ensembl	human	known	69_37n	rna	60	17.81	13	SNP	0.885	C
TTC7B	145567	genome.wustl.edu	37	14	91247102	91247102	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr14:91247102G>A	ENST00000328459.6	-	3	546	c.425C>T	c.(424-426)gCa>gTa	p.A142V	TTC7B_ENST00000357056.2_Missense_Mutation_p.A142V	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	142										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GTAGGCTTCTGCGATCACCCG	0.587																																						dbGAP											0													81.0	86.0	84.0					14																	91247102		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.425C>T	14.37:g.91247102G>A	ENSP00000336127:p.Ala142Val		Q86U24|Q86VT3	Missense_Mutation	SNP	pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A142V	ENST00000328459.6	37	c.425	CCDS32140.1	14	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106920	0.77096	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000557766;ENST00000553948	T;T	0.62941	0.67;-0.01	5.65	5.65	0.86999	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.79429	0.4444	M	0.75615	2.305	0.80722	D	1	D	0.69078	0.997	D	0.70716	0.97	T	0.76473	-0.2946	10	0.37606	T	0.19	-12.5472	20.0965	0.97849	0.0:0.0:1.0:0.0	.	142	Q86TV6	TTC7B_HUMAN	V	40;142;142;40;40	ENSP00000349564:A142V;ENSP00000336127:A142V	ENSP00000336127:A142V	A	-	2	0	TTC7B	90316855	1.000000	0.71417	0.196000	0.23383	0.189000	0.23516	9.449000	0.97603	2.824000	0.97209	0.655000	0.94253	GCA	TTC7B	-	NULL	ENSG00000165914		0.587	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC7B	HGNC	protein_coding	OTTHUMT00000411364.2	115	0.00	0	G			91247102	91247102	-1	no_errors	ENST00000357056	ensembl	human	known	69_37n	missense	72	25.25	25	SNP	1.000	A
TTF2	8458	genome.wustl.edu	37	1	117634491	117634491	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:117634491A>G	ENST00000369466.4	+	17	2768	c.2724A>G	c.(2722-2724)tcA>tcG	p.S908S	MIR942_ENST00000401111.1_RNA	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	908					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CAGCAGACTCACCGAGATCCA	0.527																																						dbGAP											0													97.0	90.0	92.0					1																	117634491		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.2724A>G	1.37:g.117634491A>G			A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S908	ENST00000369466.4	37	c.2724	CCDS892.1	1																																																																																			TTF2	-	pfam_SNF2_N	ENSG00000116830		0.527	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF2	HGNC	protein_coding	OTTHUMT00000033277.3	165	0.60	1	A			117634491	117634491	+1	no_errors	ENST00000369466	ensembl	human	known	69_37n	silent	132	19.51	32	SNP	0.000	G
TTLL12	23170	genome.wustl.edu	37	22	43563971	43563971	+	3'UTR	SNP	T	T	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr22:43563971T>G	ENST00000216129.6	-	0	2041				TTLL12_ENST00000494035.1_3'UTR	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12						cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				AGAACTGAGGTTGGAATCCTG	0.622																																						dbGAP											0													62.0	59.0	60.0					22																	43563971		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.*43A>C	22.37:g.43563971T>G			Q20WK5|Q9UGU3	RNA	SNP	-	NULL	ENST00000216129.6	37	NULL	CCDS14047.1	22																																																																																			TTLL12	-	-	ENSG00000100304		0.622	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL12	HGNC	protein_coding	OTTHUMT00000319611.1	56	0.00	0	T	NM_015140		43563971	43563971	-1	no_errors	ENST00000494035	ensembl	human	known	69_37n	rna	97	13.04	15	SNP	0.000	G
TTLL7	79739	genome.wustl.edu	37	1	84417536	84417536	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:84417536A>G	ENST00000260505.8	-	3	526	c.149T>C	c.(148-150)tTt>tCt	p.F50S	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	50	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		ACCAATTTCAAACTTTGTCCC	0.343																																						dbGAP											0													80.0	83.0	82.0					1																	84417536		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.149T>C	1.37:g.84417536A>G	ENSP00000260505:p.Phe50Ser		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.F50S	ENST00000260505.8	37	c.149	CCDS690.2	1	.	.	.	.	.	.	.	.	.	.	A	17.45	3.393585	0.62066	.	.	ENSG00000137941	ENST00000260505;ENST00000370703	T	0.03496	3.91	5.37	4.16	0.48862	.	0.109678	0.64402	D	0.000005	T	0.00998	0.0033	N	0.16130	0.375	0.41524	D	0.988418	P	0.44195	0.828	B	0.35859	0.212	T	0.61964	-0.6954	10	0.52906	T	0.07	.	8.7919	0.34857	0.6681:0.0:0.0:0.3319	.	50	Q6ZT98	TTLL7_HUMAN	S	50	ENSP00000260505:F50S	ENSP00000260505:F50S	F	-	2	0	TTLL7	84190124	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.346000	0.65992	2.162000	0.67917	0.528000	0.53228	TTT	TTLL7	-	NULL	ENSG00000137941		0.343	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL7	HGNC	protein_coding	OTTHUMT00000027498.1	46	0.00	0	A	NM_024686		84417536	84417536	-1	no_errors	ENST00000260505	ensembl	human	known	69_37n	missense	41	12.77	6	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179456195	179456197	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	TCA	TCA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:179456195_179456197delTCA	ENST00000591111.1	-	254	55556_55558	c.55332_55334delTGA	c.(55330-55335)attgaa>ata	p.E18445del	TTN_ENST00000460472.2_In_Frame_Del_p.E11021del|TTN_ENST00000342992.6_In_Frame_Del_p.E17518del|TTN_ENST00000342175.6_In_Frame_Del_p.E11213del|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_In_Frame_Del_p.E20086del|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_In_Frame_Del_p.E11146del|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18445	Ig-like 106.				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)			CACAAGACCTTCAATTAATTTCA	0.374																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	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.55332_55334delTGA	2.37:g.179456195_179456197delTCA	ENSP00000465570:p.Glu18445del		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	In_Frame_Del	DEL	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.E17518in_frame_del	ENST00000591111.1	37	c.52553_52551		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like	ENSG00000155657		0.374	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	90	0.00	0	TCA	NM_133378		179456195	179456197	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	in_frame_del	14	17.65	3	DEL	1.000:1.000:1.000	-
TUBA3E	112714	genome.wustl.edu	37	2	130949541	130949541	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:130949541G>A	ENST00000312988.7	-	5	1316	c.1216C>T	c.(1216-1218)Cac>Tac	p.H406Y		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	406					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					ACGTACCAGTGCACAAAGGCC	0.607																																						dbGAP											0													118.0	117.0	117.0					2																	130949541		2203	4296	6499	-	-	-	SO:0001583	missense	0			BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.1216C>T	2.37:g.130949541G>A	ENSP00000318197:p.His406Tyr			Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin	p.H406Y	ENST00000312988.7	37	c.1216	CCDS2158.1	2	.	.	.	.	.	.	.	.	.	.	g	11.56	1.674898	0.29783	.	.	ENSG00000152086	ENST00000312988	D	0.87256	-2.23	2.96	2.0	0.26442	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.238346	0.24949	U	0.034313	D	0.90208	0.6939	M	0.93062	3.375	0.39275	D	0.964462	B	0.25312	0.123	B	0.36335	0.222	D	0.88555	0.3119	10	0.72032	D	0.01	.	9.3152	0.37930	0.0:0.2236:0.7764:0.0	.	406	Q6PEY2	TBA3E_HUMAN	Y	406	ENSP00000318197:H406Y	ENSP00000318197:H406Y	H	-	1	0	TUBA3E	130666011	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.772000	0.91757	0.514000	0.28300	0.455000	0.32223	CAC	TUBA3E	-	superfamily_Tub_FtsZ_C,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin	ENSG00000152086		0.607	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3E	HGNC	protein_coding	OTTHUMT00000254519.1	469	0.00	0	G	NM_207312		130949541	130949541	-1	no_errors	ENST00000312988	ensembl	human	known	69_37n	missense	475	11.71	63	SNP	1.000	A
TUBBP5	643224	genome.wustl.edu	37	9	141070116	141070116	+	RNA	SNP	G	G	A	rs376870088		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:141070116G>A	ENST00000503395.1	+	0	1196									tubulin, beta pseudogene 5									p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687																																						dbGAP											1	Substitution - Missense(1)	urinary_tract(1)																																								-	-	-			0			AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070116G>A				RNA	SNP	-	NULL	ENST00000503395.1	37	NULL		9																																																																																			TUBBP5	-	-	ENSG00000159247		0.687	TUBBP5-003	KNOWN	basic	processed_transcript	TUBBP5	HGNC	pseudogene	OTTHUMT00000373087.1	94	0.00	0	G	NR_027156		141070116	141070116	+1	no_errors	ENST00000290377	ensembl	human	known	69_37n	rna	165	10.81	20	SNP	1.000	A
TUBGCP5	114791	genome.wustl.edu	37	15	22863085	22863085	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:22863085C>T	ENST00000283645.4	+	15	2236	c.2106C>T	c.(2104-2106)tgC>tgT	p.C702C	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Silent_p.C702C	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	702					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		ATCTAGATTGCTGTGGAAATC	0.353																																						dbGAP											0													147.0	147.0	147.0					15																	22863085		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.2106C>T	15.37:g.22863085C>T			E9PB12|Q6IQ52|Q96PY8	Silent	SNP	pfam_Spc97_Spc98	p.C702	ENST00000283645.4	37	c.2106	CCDS10008.1	15																																																																																			TUBGCP5	-	pfam_Spc97_Spc98	ENSG00000153575		0.353	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP5	HGNC	protein_coding	OTTHUMT00000250998.2	140	0.00	0	C	NM_052903		22863085	22863085	+1	no_errors	ENST00000283645	ensembl	human	known	69_37n	silent	72	31.48	34	SNP	1.000	T
TUBGCP6	85378	genome.wustl.edu	37	22	50664266	50664266	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr22:50664266A>G	ENST00000248846.5	-	10	2044	c.1940T>C	c.(1939-1941)aTg>aCg	p.M647T	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.M647T|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	647					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CACCCTCTCCATGCGCCCAAC	0.617																																						dbGAP											0													62.0	55.0	57.0					22																	50664266		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1940T>C	22.37:g.50664266A>G	ENSP00000248846:p.Met647Thr		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.M647T	ENST00000248846.5	37	c.1940	CCDS14087.1	22	.	.	.	.	.	.	.	.	.	.	A	20.2	3.942599	0.73672	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.13901	2.9;2.55	5.19	5.19	0.71726	.	0.570986	0.19533	N	0.111984	T	0.33498	0.0865	L	0.59436	1.845	0.58432	D	0.999994	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.982	T	0.01697	-1.1293	10	0.45353	T	0.12	.	15.0451	0.71822	1.0:0.0:0.0:0.0	.	647;647	B2RWN4;Q96RT7	.;GCP6_HUMAN	T	647	ENSP00000248846:M647T;ENSP00000397387:M647T	ENSP00000248846:M647T	M	-	2	0	TUBGCP6	49006393	1.000000	0.71417	0.998000	0.56505	0.665000	0.39181	8.884000	0.92432	1.967000	0.57214	0.379000	0.24179	ATG	TUBGCP6	-	pfam_Spc97_Spc98	ENSG00000128159		0.617	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	HGNC	protein_coding	OTTHUMT00000075004.3	112	0.00	0	A	NM_020461		50664266	50664266	-1	no_errors	ENST00000248846	ensembl	human	known	69_37n	missense	154	15.85	29	SNP	1.000	G
TULP3	7289	genome.wustl.edu	37	12	3048601	3048601	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:3048601G>A	ENST00000448120.2	+	11	1371	c.1320G>A	c.(1318-1320)gcG>gcA	p.A440A	TULP3_ENST00000397132.2_Intron	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	440					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GTAAGCTGGCGTGTGAATGAG	0.547																																						dbGAP											0													162.0	136.0	145.0					12																	3048601		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"""Intraflagellar transport homologs"""	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.1320G>A	12.37:g.3048601G>A			B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Silent	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N	p.A440	ENST00000448120.2	37	c.1320	CCDS8519.1	12																																																																																			TULP3	-	superfamily_Tubby_C-like,prints_Tubby_C	ENSG00000078246		0.547	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TULP3	HGNC	protein_coding	OTTHUMT00000398468.1	294	0.00	0	G	NM_003324		3048601	3048601	+1	no_errors	ENST00000228245	ensembl	human	known	69_37n	silent	138	12.66	20	SNP	0.000	A
TXNDC11	51061	genome.wustl.edu	37	16	11785770	11785770	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:11785770T>C	ENST00000356957.3	-	9	1464	c.1357A>G	c.(1357-1359)Act>Gct	p.T453A	TXNDC11_ENST00000283033.5_Missense_Mutation_p.T426A|TXNDC11_ENST00000570917.1_5'Flank			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	453					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGCACCACAGTGTTGCAGCAG	0.652																																						dbGAP											0													45.0	42.0	43.0					16																	11785770		2197	4300	6497	-	-	-	SO:0001583	missense	0			BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1357A>G	16.37:g.11785770T>C	ENSP00000349439:p.Thr453Ala		O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.T453A	ENST00000356957.3	37	c.1357		16	.	.	.	.	.	.	.	.	.	.	T	15.47	2.843517	0.51057	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.51574	0.7;0.7	5.39	4.26	0.50523	.	0.112007	0.64402	D	0.000008	T	0.53384	0.1793	M	0.66939	2.045	0.44079	D	0.996838	P;P	0.52577	0.575;0.954	B;P	0.49829	0.146;0.623	T	0.54682	-0.8257	10	0.54805	T	0.06	-15.4369	10.7183	0.46026	0.1429:0.0:0.0:0.8571	.	453;426	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	A	453;426	ENSP00000349439:T453A;ENSP00000283033:T426A	ENSP00000283033:T426A	T	-	1	0	TXNDC11	11693271	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.511000	0.53400	0.827000	0.34685	0.459000	0.35465	ACT	TXNDC11	-	NULL	ENSG00000153066		0.652	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	TXNDC11	HGNC	protein_coding	OTTHUMT00000437057.1	77	0.00	0	T	NM_015914		11785770	11785770	-1	no_errors	ENST00000356957	ensembl	human	known	69_37n	missense	73	17.05	15	SNP	1.000	C
TXNDC5	81567	genome.wustl.edu	37	6	7889729	7889729	+	Splice_Site	DEL	T	T	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:7889729delT	ENST00000379757.4	-	6	855	c.818delA	c.(817-819)aag>ag	p.K273fs	TXNDC5_ENST00000539054.1_Splice_Site_p.K201fs|TXNDC5_ENST00000473453.1_Splice_Site_p.K165fs|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	273	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					CAGACGTACCTTTTTCCCATC	0.458																																					Ovarian(119;1430 1625 3928 26125 34589)	dbGAP											0													82.0	81.0	81.0					6																	7889729		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"""Protein disulfide isomerases"""	21073	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 15"""		"""thioredoxin domain containing 5"""				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.819+1A>-	6.37:g.7889729delT			B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Frame_Shift_Del	DEL	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase	p.K273fs	ENST00000379757.4	37	c.818	CCDS4505.1	6																																																																																			TXNDC5	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Disulphide_isomerase	ENSG00000239264		0.458	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC5	HGNC	protein_coding	OTTHUMT00000039792.1	75	0.00	0	T	NM_030810	Frame_Shift_Del	7889729	7889729	-1	no_errors	ENST00000379757	ensembl	human	known	69_37n	frame_shift_del	113	15.04	20	DEL	1.000	-
TXNRD2	10587	genome.wustl.edu	37	22	19906523	19906523	+	Silent	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr22:19906523G>T	ENST00000400521.1	-	4	240	c.234C>A	c.(232-234)acC>acA	p.T78T	TXNRD2_ENST00000400519.1_Silent_p.T77T|TXNRD2_ENST00000400518.1_Silent_p.T48T|TXNRD2_ENST00000542719.1_Silent_p.T48T|TXNRD2_ENST00000535882.1_Silent_p.T77T|TXNRD2_ENST00000334363.9_Silent_p.T78T|TXNRD2_ENST00000491939.1_5'UTR	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	78					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GGCCCCACCGGGTGCCTGGGA	0.572																																						dbGAP											0													22.0	24.0	24.0					22																	19906523		1955	4128	6083	-	-	-	SO:0001819	synonymous_variant	0			AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.234C>A	22.37:g.19906523G>T			O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Silent	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase	p.T77	ENST00000400521.1	37	c.231	CCDS42981.1	22																																																																																			TXNRD2	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,pfam_GIDA-rel,tigrfam_Thioredoxin/glutathione_Rdtase	ENSG00000184470		0.572	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	TXNRD2	HGNC	protein_coding	OTTHUMT00000314903.3	48	0.00	0	G	NM_006440		19906523	19906523	-1	no_errors	ENST00000535882	ensembl	human	known	69_37n	silent	39	29.31	17	SNP	0.991	T
TYK2	7297	genome.wustl.edu	37	19	10463747	10463747	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:10463747A>G	ENST00000525621.1	-	22	3536	c.3055T>C	c.(3055-3057)Tac>Cac	p.Y1019H	TYK2_ENST00000529422.1_5'UTR|TYK2_ENST00000524462.1_Missense_Mutation_p.Y834H|TYK2_ENST00000264818.6_Missense_Mutation_p.Y1019H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1019	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CGGTGGATGTAGTGCTGCGCG	0.682																																						dbGAP											0													56.0	51.0	53.0					19																	10463747		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3055T>C	19.37:g.10463747A>G	ENSP00000431885:p.Tyr1019His		Q6QB10|Q96CH0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.Y1019H	ENST00000525621.1	37	c.3055	CCDS12236.1	19	.	.	.	.	.	.	.	.	.	.	A	32	5.133049	0.94517	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529739	D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49	5.43	5.43	0.79202	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.287206	0.24206	N	0.040572	D	0.92034	0.7476	L	0.47016	1.485	0.54753	D	0.999989	D	0.89917	1.0	D	0.81914	0.995	D	0.92674	0.6152	10	0.87932	D	0	-33.7184	13.4282	0.61039	1.0:0.0:0.0:0.0	.	1019	P29597	TYK2_HUMAN	H	834;1019;1019;766;42	ENSP00000433203:Y834H;ENSP00000431885:Y1019H;ENSP00000264818:Y1019H;ENSP00000436155:Y42H	ENSP00000264818:Y1019H	Y	-	1	0	TYK2	10324747	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.367000	0.79558	2.078000	0.62432	0.459000	0.35465	TAC	TYK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000105397		0.682	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1	189	0.52	1	A			10463747	10463747	-1	no_errors	ENST00000264818	ensembl	human	known	69_37n	missense	287	12.77	42	SNP	1.000	G
UBLCP1	134510	genome.wustl.edu	37	5	158711931	158711931	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr5:158711931G>T	ENST00000296786.6	+	11	1275	c.949G>T	c.(949-951)Gga>Tga	p.G317*		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	317						nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAAGAAGCAAGGACAGTAGTT	0.343																																						dbGAP											0													140.0	142.0	141.0					5																	158711931		2203	4298	6501	-	-	-	SO:0001587	stop_gained	0			AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	28110	protein-coding gene	gene with protein product	"""CTD phosphatase-like with ubiquitin domain 1"""	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.949G>T	5.37:g.158711931G>T	ENSP00000296786:p.Gly317*		D3DQJ7|Q96DK5	Nonsense_Mutation	SNP	pfam_NIF,pfam_Ubiquitin,superfamily_HAD-like_dom,smart_Ubiquitin,smart_NIF,pfscan_NIF,pfscan_Ubiquitin_supergroup,tigrfam_HAD-SF_hydro_IIID	p.G317*	ENST00000296786.6	37	c.949	CCDS4345.1	5	.	.	.	.	.	.	.	.	.	.	G	38	7.125102	0.98081	.	.	ENSG00000164332	ENST00000296786	.	.	.	5.89	5.02	0.67125	.	0.250556	0.42294	D	0.000740	.	.	.	.	.	.	0.26061	N	0.981355	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-21.8598	13.1195	0.59318	0.0736:0.0:0.9264:0.0	.	.	.	.	X	317	.	ENSP00000296786:G317X	G	+	1	0	UBLCP1	158644509	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	5.394000	0.66285	1.493000	0.48517	0.643000	0.83706	GGA	UBLCP1	-	NULL	ENSG00000164332		0.343	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBLCP1	HGNC	protein_coding	OTTHUMT00000252650.2	241	0.00	0	G	NM_145049		158711931	158711931	+1	no_errors	ENST00000296786	ensembl	human	known	69_37n	nonsense	65	10.96	8	SNP	1.000	T
UBP1	7342	genome.wustl.edu	37	3	33450984	33450985	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:33450984_33450985insT	ENST00000283629.3	-	6	1193_1194	c.664_665insA	c.(664-666)acafs	p.T222fs	UBP1_ENST00000486388.1_5'Flank|UBP1_ENST00000283628.5_Frame_Shift_Ins_p.T222fs|UBP1_ENST00000447368.2_Frame_Shift_Ins_p.T222fs	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	222					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TAGATGATCTGTGTATTCTCCA	0.436																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.665dupA	3.37:g.33450985_33450985dupT	ENSP00000283629:p.Thr222fs		Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Frame_Shift_Ins	INS	pfam_CP2,superfamily_SAM/pointed	p.T222fs	ENST00000283629.3	37	c.665_664	CCDS2659.1	3																																																																																			UBP1	-	pfam_CP2	ENSG00000153560		0.436	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBP1	HGNC	protein_coding	OTTHUMT00000253249.2	174	0.00	0	-	NM_014517		33450984	33450985	-1	no_errors	ENST00000283628	ensembl	human	known	69_37n	frame_shift_ins	43	17.31	9	INS	1.000:1.000	T
UBXN11	91544	genome.wustl.edu	37	1	26612397	26612397	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:26612397C>T	ENST00000374222.1	-	10	1155	c.691G>A	c.(691-693)Gag>Aag	p.E231K	UBXN11_ENST00000535108.1_Missense_Mutation_p.E73K|UBXN11_ENST00000436301.2_Missense_Mutation_p.E156K|UBXN11_ENST00000374217.2_Missense_Mutation_p.E198K|UBXN11_ENST00000374221.3_Missense_Mutation_p.E231K|UBXN11_ENST00000374223.1_5'UTR|UBXN11_ENST00000314675.7_Missense_Mutation_p.E111K|UBXN11_ENST00000357089.4_Missense_Mutation_p.E198K			Q5T124	UBX11_HUMAN	UBX domain protein 11	231	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						GGGATGGGCTCGAGGGTACGC	0.627											OREG0013265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													52.0	59.0	56.0					1																	26612397		2045	4192	6237	-	-	-	SO:0001583	missense	0			AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.691G>A	1.37:g.26612397C>T	ENSP00000363339:p.Glu231Lys	788	D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	pfam_SEP_domain,superfamily_SEP_domain,pfscan_UBX	p.E231K	ENST00000374222.1	37	c.691	CCDS41288.1	1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562232	0.65538	.	.	ENSG00000158062	ENST00000314675;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217;ENST00000535108;ENST00000436301;ENST00000374215;ENST00000452980	T;T;T;T;T;T;T;T;T	0.51574	2.21;2.45;2.43;2.43;2.45;0.87;0.9;0.9;0.7	5.21	4.3	0.51218	SEP domain (2);	0.187445	0.45606	D	0.000360	T	0.62134	0.2403	L	0.53249	1.67	0.40299	D	0.978587	D;D;D;B;B;D	0.89917	1.0;1.0;1.0;0.141;0.141;1.0	D;D;D;B;B;D	0.80764	0.99;0.981;0.994;0.057;0.092;0.994	T	0.63668	-0.6585	10	0.45353	T	0.12	-31.7652	13.4112	0.60944	0.0:0.9236:0.0:0.0764	.	73;156;198;193;111;231	B7Z1T8;B7Z3N8;Q5T124-2;Q5T124-4;Q5T124-3;Q5T124	.;.;.;.;.;UBX11_HUMAN	K	111;198;231;231;198;73;156;193;198	ENSP00000324721:E111K;ENSP00000349601:E198K;ENSP00000363338:E231K;ENSP00000363339:E231K;ENSP00000363334:E198K;ENSP00000446034:E73K;ENSP00000393858:E156K;ENSP00000363332:E193K;ENSP00000410357:E198K	ENSP00000324721:E111K	E	-	1	0	UBXN11	26484984	0.984000	0.35163	0.916000	0.36221	0.083000	0.17756	2.757000	0.47557	1.349000	0.45751	-0.186000	0.12905	GAG	UBXN11	-	superfamily_SEP_domain	ENSG00000158062		0.627	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBXN11	HGNC	protein_coding	OTTHUMT00000009500.1	125	0.00	0	C	NM_145345		26612397	26612397	-1	no_errors	ENST00000374221	ensembl	human	known	69_37n	missense	165	12.70	24	SNP	0.994	T
UBXN2B	137886	genome.wustl.edu	37	8	59343210	59343210	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:59343210A>G	ENST00000399598.2	+	3	443	c.321A>G	c.(319-321)tcA>tcG	p.S107S	UBXN2B_ENST00000522978.1_3'UTR	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	107						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						CAAGAGCTTCAGGTGATGATA	0.348																																						dbGAP											0													55.0	53.0	53.0					8																	59343210		1837	4094	5931	-	-	-	SO:0001819	synonymous_variant	0			AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"""UBX domain containing"""	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.321A>G	8.37:g.59343210A>G			B3KWZ3	Missense_Mutation	SNP	pfam_SEP_domain,superfamily_SEP_domain,smart_SEP_domain	p.R53G	ENST00000399598.2	37	c.157	CCDS43741.1	8	.	.	.	.	.	.	.	.	.	.	A	9.946	1.218946	0.22373	.	.	ENSG00000215114	ENST00000521796	.	.	.	5.77	-1.72	0.08107	.	.	.	.	.	T	0.38453	0.1041	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30475	-0.9977	4	.	.	.	-26.1693	0.4583	0.00512	0.3865:0.2242:0.1486:0.2407	.	.	.	.	G	53	.	.	R	+	1	2	UBXN2B	59505764	0.992000	0.36948	0.939000	0.37840	0.996000	0.88848	0.251000	0.18257	-0.171000	0.10797	0.459000	0.35465	AGG	UBXN2B	-	NULL	ENSG00000215114		0.348	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN2B	HGNC	protein_coding	OTTHUMT00000378184.1	65	0.00	0	A	NM_001077619		59343210	59343210	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000521796	ensembl	human	putative	69_37n	missense	88	10.20	10	SNP	0.989	G
UCKL1	54963	genome.wustl.edu	37	20	62577054	62577054	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:62577054C>T	ENST00000354216.6	-	5	646	c.604G>A	c.(604-606)Gtc>Atc	p.V202I	MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000358711.3_Missense_Mutation_p.V202I|UCKL1_ENST00000369908.5_Missense_Mutation_p.V187I|UCKL1_ENST00000492660.1_5'UTR|UCKL1_ENST00000369892.3_Missense_Mutation_p.V202I	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	202					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AAGATGATGACGTTTGCACCA	0.607																																						dbGAP											0													132.0	125.0	127.0					20																	62577054		2202	4299	6501	-	-	-	SO:0001583	missense	0			AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.604G>A	20.37:g.62577054C>T	ENSP00000346155:p.Val202Ile		B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Missense_Mutation	SNP	pfam_PRK/URK,pfam_CPT,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase	p.V202I	ENST00000354216.6	37	c.604	CCDS13547.1	20	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838220	0.91117	.	.	ENSG00000198276	ENST00000354216;ENST00000369892;ENST00000358711;ENST00000369908	.	.	.	5.43	5.43	0.79202	Phosphoribulokinase/uridine kinase (1);	0.000000	0.85682	D	0.000000	T	0.65883	0.2734	L	0.41492	1.28	0.80722	D	1	D;D	0.63880	0.992;0.993	P;P	0.59487	0.623;0.858	T	0.65627	-0.6122	9	0.48119	T	0.1	-81.1394	17.4113	0.87486	0.0:1.0:0.0:0.0	.	187;202	B7Z8N2;Q9NWZ5	.;UCKL1_HUMAN	I	202;202;202;187	.	ENSP00000346155:V202I	V	-	1	0	UCKL1	62047498	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.526000	0.60566	2.558000	0.86282	0.491000	0.48974	GTC	UCKL1	-	pfam_PRK/URK,prints_PRK,tigrfam_Uridine_kinase	ENSG00000198276		0.607	UCKL1-001	KNOWN	basic|CCDS	protein_coding	UCKL1	HGNC	protein_coding	OTTHUMT00000080236.1	127	0.78	1	C	NM_017859		62577054	62577054	-1	no_errors	ENST00000354216	ensembl	human	known	69_37n	missense	200	18.37	45	SNP	1.000	T
ULK1	8408	genome.wustl.edu	37	12	132393760	132393760	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:132393760T>C	ENST00000321867.4	+	8	995	c.644T>C	c.(643-645)cTg>cCg	p.L215P		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TACCAGTGCCTGACGGGGAAG	0.677																																						dbGAP											0													72.0	43.0	53.0					12																	132393760		2198	4297	6495	-	-	-	SO:0001583	missense	0			AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.644T>C	12.37:g.132393760T>C	ENSP00000324560:p.Leu215Pro		Q9UQ28	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L215P	ENST00000321867.4	37	c.644	CCDS9274.1	12	.	.	.	.	.	.	.	.	.	.	T	22.7	4.321250	0.81580	.	.	ENSG00000177169	ENST00000321867;ENST00000537421	T;T	0.34072	1.38;1.38	4.77	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000021	T	0.73791	0.3632	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84540	0.0638	10	0.87932	D	0	-19.846	14.5802	0.68282	0.0:0.0:0.0:1.0	.	215	O75385	ULK1_HUMAN	P	215;132	ENSP00000324560:L215P;ENSP00000438953:L132P	ENSP00000324560:L215P	L	+	2	0	ULK1	130959713	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	6.178000	0.71968	1.900000	0.55004	0.254000	0.18369	CTG	ULK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000177169		0.677	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK1	HGNC	protein_coding	OTTHUMT00000397769.3	66	0.00	0	T			132393760	132393760	+1	no_errors	ENST00000321867	ensembl	human	known	69_37n	missense	117	13.24	18	SNP	1.000	C
ULK3	25989	genome.wustl.edu	37	15	75134765	75134765	+	Intron	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:75134765C>T	ENST00000440863.2	-	2	194				ULK3_ENST00000568667.1_Intron|ULK3_ENST00000569437.1_Intron	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3						autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						TGTCCTTCTGCGAGACAGGAG	0.557																																						dbGAP											0													182.0	178.0	179.0					15																	75134765		1961	4152	6113	-	-	-	SO:0001627	intron_variant	0			BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"""unc-51-like kinase 3 (C. elegans)"""				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.103-4G>A	15.37:g.75134765C>T			B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Missense_Mutation	SNP	NULL	p.R54H	ENST00000440863.2	37	c.161	CCDS45305.1	15																																																																																			ULK3	-	NULL	ENSG00000140474		0.557	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ULK3	HGNC	protein_coding	OTTHUMT00000421734.4	264	0.37	1	C	NM_015518		75134765	75134765	-1	no_errors	ENST00000562161	ensembl	human	known	69_37n	missense	367	13.41	57	SNP	0.000	T
UNC13A	23025	genome.wustl.edu	37	19	17767000	17767000	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:17767000C>A	ENST00000519716.2	-	10	974	c.975G>T	c.(973-975)gaG>gaT	p.E325D	UNC13A_ENST00000551649.1_Missense_Mutation_p.E325D|UNC13A_ENST00000252773.7_Missense_Mutation_p.E325D|UNC13A_ENST00000428389.2_Missense_Mutation_p.E413D|UNC13A_ENST00000552293.1_Missense_Mutation_p.E325D|UNC13A_ENST00000550896.1_Missense_Mutation_p.E325D	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	325	Glu-rich.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CCAGGTCCTCCTCCAGCTCTT	0.617																																						dbGAP											0													34.0	37.0	36.0					19																	17767000		2028	4048	6076	-	-	-	SO:0001583	missense	0			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.975G>T	19.37:g.17767000C>A	ENSP00000429562:p.Glu325Asp		E5RHY9	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.E413D	ENST00000519716.2	37	c.1239	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	C	7.279	0.608636	0.14002	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.81330	-1.46;-1.48;-1.46;-1.33;-1.33;-1.46	4.56	-9.12	0.00707	.	0.792346	0.11164	N	0.592793	T	0.52370	0.1730	N	0.08118	0	0.20975	N	0.999817	B	0.02656	0.0	B	0.01281	0.0	T	0.42882	-0.9425	10	0.17832	T	0.49	-0.462	8.6037	0.33760	0.1066:0.6167:0.1963:0.0803	.	325	Q9UPW8	UN13A_HUMAN	D	325;413;325;325;325;325	ENSP00000429562:E325D;ENSP00000400409:E413D;ENSP00000252773:E325D;ENSP00000447236:E325D;ENSP00000447572:E325D;ENSP00000446831:E325D	ENSP00000252773:E325D	E	-	3	2	UNC13A	17628000	0.000000	0.05858	0.891000	0.34965	0.698000	0.40448	-2.487000	0.00977	-2.148000	0.00798	-0.714000	0.03626	GAG	UNC13A	-	NULL	ENSG00000130477		0.617	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	142	0.00	0	C	XM_038604		17767000	17767000	-1	no_errors	ENST00000428389	ensembl	human	known	69_37n	missense	174	13.73	28	SNP	0.265	A
UNC13B	10497	genome.wustl.edu	37	9	35295831	35295831	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:35295831C>T	ENST00000378495.3	+	8	887	c.665C>T	c.(664-666)tCg>tTg	p.S222L	UNC13B_ENST00000396787.1_Missense_Mutation_p.S234L|UNC13B_ENST00000378496.4_Missense_Mutation_p.S222L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	222					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCGGTGCGATCGCCACAGCAG	0.547																																						dbGAP											0													99.0	80.0	86.0					9																	35295831		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.665C>T	9.37:g.35295831C>T	ENSP00000367756:p.Ser222Leu		Q5VYM8	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.S234L	ENST00000378495.3	37	c.701	CCDS6579.1	9	.	.	.	.	.	.	.	.	.	.	C	6.377	0.437622	0.12104	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496	D;T;T	0.82167	-1.58;0.98;0.98	5.8	4.67	0.58626	.	0.327070	0.22236	N	0.062760	T	0.59252	0.2180	N	0.01874	-0.695	0.20196	N	0.999929	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.42430	-0.9452	10	0.11485	T	0.65	0.8088	11.738	0.51775	0.0:0.0687:0.0:0.9313	.	222;222;222	Q2NKJ5;F8W8M9;O14795	.;.;UN13B_HUMAN	L	234;222;222	ENSP00000380006:S234L;ENSP00000367756:S222L;ENSP00000367757:S222L	ENSP00000367756:S222L	S	+	2	0	UNC13B	35285831	0.246000	0.23909	0.662000	0.29724	0.068000	0.16541	1.494000	0.35616	1.032000	0.39892	-0.324000	0.08512	TCG	UNC13B	-	NULL	ENSG00000198722		0.547	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13B	HGNC	protein_coding	OTTHUMT00000052296.1	226	0.00	0	C	NM_006377		35295831	35295831	+1	no_errors	ENST00000396787	ensembl	human	known	69_37n	missense	141	16.37	28	SNP	0.938	T
UNC5B	219699	genome.wustl.edu	37	10	73051401	73051401	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:73051401C>T	ENST00000335350.6	+	10	1923	c.1507C>T	c.(1507-1509)Ctg>Ttg	p.L503L	UNC5B_ENST00000373192.4_Silent_p.L492L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	503					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GGCTGACCTGCTGGGGGTCTT	0.652																																						dbGAP											0													51.0	53.0	52.0					10																	73051401		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1507C>T	10.37:g.73051401C>T			Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Silent	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Death,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.L503	ENST00000335350.6	37	c.1507	CCDS7309.1	10																																																																																			UNC5B	-	NULL	ENSG00000107731		0.652	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5B	HGNC	protein_coding	OTTHUMT00000048541.1	72	0.00	0	C	NM_170744		73051401	73051401	+1	no_errors	ENST00000335350	ensembl	human	known	69_37n	silent	96	12.73	14	SNP	1.000	T
UNK	85451	genome.wustl.edu	37	17	73808228	73808228	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:73808228A>C	ENST00000589666.1	+	3	460	c.350A>C	c.(349-351)gAg>gCg	p.E117A	UNK_ENST00000293218.3_Missense_Mutation_p.E193A	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	117							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGGACACTGAGCGCAGGTAC	0.567																																						dbGAP											0													108.0	116.0	114.0					17																	73808228		2200	4299	6499	-	-	-	SO:0001583	missense	0			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.350A>C	17.37:g.73808228A>C	ENSP00000464893:p.Glu117Ala			Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E193A	ENST00000589666.1	37	c.578	CCDS45778.2	17	.	.	.	.	.	.	.	.	.	.	A	27.5	4.836433	0.91117	.	.	ENSG00000132478	ENST00000293218	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.84960	0.5588	M	0.91872	3.25	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	D	0.88642	0.3176	9	0.87932	D	0	-22.543	15.0863	0.72155	1.0:0.0:0.0:0.0	.	117	Q9C0B0	UNK_HUMAN	A	193	.	ENSP00000293218:E193A	E	+	2	0	UNK	71319823	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.339000	0.96797	1.968000	0.57251	0.454000	0.30748	GAG	UNK	-	NULL	ENSG00000132478		0.567	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNK	HGNC	protein_coding	OTTHUMT00000448835.1	283	0.00	0	A	NM_001080419		73808228	73808228	+1	no_errors	ENST00000293218	ensembl	human	known	69_37n	missense	283	11.84	38	SNP	1.000	C
UQCRC2	7385	genome.wustl.edu	37	16	21969861	21969861	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:21969861A>G	ENST00000268379.4	+	4	1037	c.273A>G	c.(271-273)acA>acG	p.T91T	UQCRC2_ENST00000561553.1_Silent_p.T91T	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	91					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		TCAAGACGACAAAAGGAGCTT	0.328																																					Colon(123;450 1645 12841 25393 45623)	dbGAP											0													78.0	81.0	80.0					16																	21969861		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.273A>G	16.37:g.21969861A>G			B3KSN4|Q9BQ05	Silent	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.T91	ENST00000268379.4	37	c.273	CCDS10601.1	16																																																																																			UQCRC2	-	pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd	ENSG00000140740		0.328	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRC2	HGNC	protein_coding	OTTHUMT00000254466.1	85	0.00	0	A	NM_003366		21969861	21969861	+1	no_errors	ENST00000268379	ensembl	human	known	69_37n	silent	37	11.90	5	SNP	0.983	G
URB1	9875	genome.wustl.edu	37	21	33688978	33688978	+	Missense_Mutation	SNP	C	C	T	rs372120737		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr21:33688978C>T	ENST00000382751.3	-	38	6548	c.6433G>A	c.(6433-6435)Gtg>Atg	p.V2145M		NM_014825.2	NP_055640.2	O60287	NPA1P_HUMAN	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	2145						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(3)|skin(1)|stomach(1)	19						CTGCTCCTCACGGCACTGTCC	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		18599	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													37.0	45.0	42.0					21																	33688978		692	1591	2283	-	-	-	SO:0001583	missense	0			AB011111	CCDS46645.1	21q22.11	2006-11-28	2006-11-28	2006-11-28	ENSG00000142207	ENSG00000142207			17344	protein-coding gene	gene with protein product	nucleolar preribosomal-associated protein 1	608865	"""chromosome 21 open reading frame 108"""	C21orf108		9628581	Standard	NM_014825		Approved	KIAA0539, NPA1	uc002ypn.2	O60287	OTTHUMG00000064919	ENST00000382751.3:c.6433G>A	21.37:g.33688978C>T	ENSP00000372199:p.Val2145Met		D3DSE5|Q96NX1|Q9NYQ1	Missense_Mutation	SNP	pfam_Npa1_N,superfamily_ARM-type_fold	p.V2145M	ENST00000382751.3	37	c.6433	CCDS46645.1	21	.	.	.	.	.	.	.	.	.	.	C	9.742	1.165028	0.21538	.	.	ENSG00000142207	ENST00000382751	T	0.35973	1.28	5.5	3.49	0.39957	.	0.409062	0.27306	N	0.019970	T	0.30727	0.0774	L	0.54323	1.7	0.19575	N	0.999968	B	0.29531	0.247	B	0.22152	0.038	T	0.19647	-1.0299	10	0.42905	T	0.14	-31.6782	10.7594	0.46256	0.1199:0.5162:0.3638:0.0	.	2145	O60287	NPA1P_HUMAN	M	2145	ENSP00000372199:V2145M	ENSP00000372199:V2145M	V	-	1	0	URB1	32610849	0.024000	0.19004	0.319000	0.25293	0.020000	0.10135	0.281000	0.18810	1.325000	0.45301	-0.273000	0.10243	GTG	URB1	-	NULL	ENSG00000142207		0.602	URB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB1	HGNC	protein_coding	OTTHUMT00000139400.2	112	0.88	1	C			33688978	33688978	-1	no_errors	ENST00000382751	ensembl	human	known	69_37n	missense	101	27.66	39	SNP	0.198	T
USH2A	7399	genome.wustl.edu	37	1	215847781	215847781	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:215847781T>C	ENST00000307340.3	-	63	13858	c.13472A>G	c.(13471-13473)gAa>gGa	p.E4491G	USH2A_ENST00000366943.2_Missense_Mutation_p.E4491G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4491	Fibronectin type-III 30. {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)		ATAGCGTGTTTCCAAGCCTGT	0.443										HNSCC(13;0.011)																												dbGAP											0													151.0	149.0	150.0					1																	215847781		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.13472A>G	1.37:g.215847781T>C	ENSP00000305941:p.Glu4491Gly		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.E4491G	ENST00000307340.3	37	c.13472	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.251997	0.22880	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55413	0.52;0.52	4.41	3.28	0.37604	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.43416	U	0.000574	T	0.38480	0.1042	L	0.35593	1.075	0.46874	D	0.999232	B	0.12013	0.005	B	0.16722	0.016	T	0.11494	-1.0585	10	0.25106	T	0.35	.	9.7458	0.40446	0.0:0.0831:0.0:0.9169	.	4491	O75445	USH2A_HUMAN	G	4491	ENSP00000305941:E4491G;ENSP00000355910:E4491G	ENSP00000305941:E4491G	E	-	2	0	USH2A	213914404	1.000000	0.71417	0.908000	0.35775	0.095000	0.18619	3.976000	0.56867	0.666000	0.31087	0.383000	0.25322	GAA	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	107	0.00	0	T	NM_007123		215847781	215847781	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	missense	27	10.00	3	SNP	1.000	C
USHBP1	83878	genome.wustl.edu	37	19	17373491	17373491	+	Missense_Mutation	SNP	C	C	T	rs371341185		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:17373491C>T	ENST00000252597.3	-	4	685	c.512G>A	c.(511-513)cGa>cAa	p.R171Q	USHBP1_ENST00000431146.2_Missense_Mutation_p.R107Q|USHBP1_ENST00000598570.1_5'UTR	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						AGCTGCCTCTCGCTGGCAGCT	0.677																																						dbGAP											0													45.0	45.0	45.0					19																	17373491		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.512G>A	19.37:g.17373491C>T	ENSP00000252597:p.Arg171Gln			Missense_Mutation	SNP	pfam_USH1C-bd_PDZ_domain	p.R171Q	ENST00000252597.3	37	c.512	CCDS12353.1	19	.	.	.	.	.	.	.	.	.	.	C	8.911	0.958636	0.18507	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T	0.18174	2.24;2.23	3.96	1.74	0.24563	.	0.795008	0.10596	N	0.656187	T	0.07863	0.0197	N	0.12182	0.205	0.27295	N	0.957748	B;B;B	0.13145	0.003;0.007;0.007	B;B;B	0.04013	0.001;0.001;0.001	T	0.43261	-0.9402	10	0.13470	T	0.59	-7.6844	5.1536	0.15023	0.0:0.6519:0.0:0.3481	.	107;171;171	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	Q	171;107;171	ENSP00000252597:R171Q;ENSP00000407902:R107Q	ENSP00000252597:R171Q	R	-	2	0	USHBP1	17234491	0.058000	0.20735	0.310000	0.25168	0.041000	0.13682	0.235000	0.17948	0.184000	0.20083	-0.444000	0.05651	CGA	USHBP1	-	NULL	ENSG00000130307		0.677	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USHBP1	HGNC	protein_coding	OTTHUMT00000463328.1	99	0.00	0	C	NM_031941		17373491	17373491	-1	no_errors	ENST00000252597	ensembl	human	known	69_37n	missense	161	10.06	18	SNP	0.656	T
USP1	7398	genome.wustl.edu	37	1	62910505	62910505	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:62910505delA	ENST00000339950.4	+	6	1469	c.654delA	c.(652-654)ctafs	p.L218fs	USP1_ENST00000371146.1_Frame_Shift_Del_p.L218fs	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	218	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		GCCAACTCCTAAAAAAAGAAG	0.358																																					Ovarian(122;1846 2315 3982 19504)	dbGAP											0													68.0	74.0	72.0					1																	62910505		2202	4299	6501	-	-	-	SO:0001589	frameshift_variant	0				CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"""Ubiquitin-specific peptidases"""	12607	protein-coding gene	gene with protein product		603478	"""ubiquitin specific protease 1"""			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.654delA	1.37:g.62910505delA	ENSP00000343526:p.Leu218fs		A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Frame_Shift_Del	DEL	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E221fs	ENST00000339950.4	37	c.654	CCDS621.1	1																																																																																			USP1	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000162607		0.358	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP1	HGNC	protein_coding	OTTHUMT00000024881.1	47	0.00	0	A	NM_001017415		62910505	62910505	+1	no_errors	ENST00000339950	ensembl	human	known	69_37n	frame_shift_del	16	30.43	7	DEL	1.000	-
USP13	8975	genome.wustl.edu	37	3	179483613	179483613	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:179483613C>A	ENST00000263966.3	+	19	2861	c.2390C>A	c.(2389-2391)cCt>cAt	p.P797H	USP13_ENST00000496897.1_Missense_Mutation_p.P732H	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	797	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CCCGAAGGACCTAGAGTCAAG	0.458																																						dbGAP											0													102.0	98.0	100.0					3																	179483613		2203	4300	6503	-	-	-	SO:0001583	missense	0			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.2390C>A	3.37:g.179483613C>A	ENSP00000263966:p.Pro797His		A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_UBA/transl_elong_EF1B_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.P797H	ENST00000263966.3	37	c.2390	CCDS3235.1	3	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124978	0.77436	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	T;T	0.15487	2.42;2.42	5.61	5.61	0.85477	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.054557	0.85682	D	0.000000	T	0.48677	0.1513	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.50242	-0.8851	10	0.59425	D	0.04	-13.5428	19.6288	0.95691	0.0:1.0:0.0:0.0	.	797	Q92995	UBP13_HUMAN	H	797;732	ENSP00000263966:P797H;ENSP00000417146:P732H	ENSP00000263966:P797H	P	+	2	0	USP13	180966307	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.186000	0.77722	2.632000	0.89209	0.655000	0.94253	CCT	USP13	-	pfam_Peptidase_C19,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19	ENSG00000058056		0.458	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP13	HGNC	protein_coding	OTTHUMT00000349617.1	224	0.00	0	C			179483613	179483613	+1	no_errors	ENST00000263966	ensembl	human	known	69_37n	missense	121	10.95	15	SNP	1.000	A
USP24	23358	genome.wustl.edu	37	1	55546997	55546997	+	Missense_Mutation	SNP	A	A	T	rs375063988		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:55546997A>T	ENST00000294383.6	-	59	7075	c.7076T>A	c.(7075-7077)gTt>gAt	p.V2359D	USP24_ENST00000407756.1_Missense_Mutation_p.V2199D	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2359					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AAGCTTACCAACATTCCTTTG	0.368																																						dbGAP											0													227.0	220.0	223.0					1																	55546997		1940	4126	6066	-	-	-	SO:0001583	missense	0			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.7076T>A	1.37:g.55546997A>T	ENSP00000294383:p.Val2359Asp		Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19	p.V2359D	ENST00000294383.6	37	c.7076	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.441978	0.43326	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02216	4.39;4.4	5.99	5.99	0.97316	.	0.366329	0.25456	N	0.030556	T	0.02304	0.0071	N	0.22421	0.69	0.58432	D	0.999999	B	0.26935	0.164	B	0.19946	0.027	T	0.62397	-0.6863	10	0.19590	T	0.45	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	2199	B7WPF4	.	D	2359;2199	ENSP00000294383:V2359D;ENSP00000385700:V2199D	ENSP00000294383:V2359D	V	-	2	0	USP24	55319585	1.000000	0.71417	0.997000	0.53966	0.833000	0.47200	5.164000	0.64954	2.291000	0.77112	0.533000	0.62120	GTT	USP24	-	superfamily_ARM-type_fold	ENSG00000162402		0.368	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	206	0.00	0	A			55546997	55546997	-1	no_errors	ENST00000294383	ensembl	human	known	69_37n	missense	25	16.67	5	SNP	0.996	T
USP5	8078	genome.wustl.edu	37	12	6972332	6972332	+	Intron	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr12:6972332G>A	ENST00000229268.8	+	15	1814				USP5_ENST00000389231.5_Intron|USP5_ENST00000541969.1_3'UTR	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)						positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						AGCTGCTGAGGTGACCCTTTT	0.582																																						dbGAP											0													41.0	39.0	39.0					12																	6972332		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1763-18G>A	12.37:g.6972332G>A			D3DUS7|D3DUS8|Q96J22	RNA	SNP	-	NULL	ENST00000229268.8	37	NULL	CCDS41743.1	12																																																																																			USP5	-	-	ENSG00000111667		0.582	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP5	HGNC	protein_coding	OTTHUMT00000402982.1	47	0.00	0	G			6972332	6972332	+1	no_errors	ENST00000541969	ensembl	human	known	69_37n	rna	62	29.55	26	SNP	0.017	A
VCL	7414	genome.wustl.edu	37	10	75865016	75865016	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:75865016G>A	ENST00000211998.4	+	16	2433	c.2339G>A	c.(2338-2340)cGt>cAt	p.R780H	VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_3'UTR|VCL_ENST00000372755.3_Missense_Mutation_p.R780H	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	780	N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CCCAAGTTCCGTGAGGCTGTG	0.547																																						dbGAP											0													77.0	62.0	67.0					10																	75865016		2203	4300	6503	-	-	-	SO:0001583	missense	0			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.2339G>A	10.37:g.75865016G>A	ENSP00000211998:p.Arg780His		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin	p.R780H	ENST00000211998.4	37	c.2339	CCDS7341.1	10	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999456	0.93227	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.39056	1.1;1.1;1.1	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.61540	0.2355	L	0.51422	1.61	0.80722	D	1	D;P;D	0.76494	0.999;0.742;0.999	D;B;D	0.80764	0.98;0.086;0.994	T	0.54490	-0.8286	10	0.40728	T	0.16	.	20.422	0.99049	0.0:0.0:1.0:0.0	.	707;780;780	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	H	780;780;687;707;452	ENSP00000361841:R780H;ENSP00000211998:R780H;ENSP00000415489:R452H	ENSP00000211998:R780H	R	+	2	0	VCL	75535022	1.000000	0.71417	0.983000	0.44433	0.999000	0.98932	9.476000	0.97823	2.832000	0.97577	0.655000	0.94253	CGT	VCL	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000035403		0.547	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	VCL	HGNC	protein_coding		56	0.00	0	G	NM_003373, NM_014000		75865016	75865016	+1	no_errors	ENST00000211998	ensembl	human	known	69_37n	missense	39	18.75	9	SNP	1.000	A
VPS13D	55187	genome.wustl.edu	37	1	12309333	12309333	+	Silent	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:12309333C>A	ENST00000358136.3	+	6	631	c.501C>A	c.(499-501)tcC>tcA	p.S167S	VPS13D_ENST00000356315.4_Silent_p.S167S	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCAATCCCTCCCATCCTTTTG	0.403																																						dbGAP											0													178.0	147.0	157.0					1																	12309333		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.501C>A	1.37:g.12309333C>A				Silent	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.S167	ENST00000358136.3	37	c.501	CCDS30588.1	1																																																																																			VPS13D	-	NULL	ENSG00000048707		0.403	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	481	0.00	0	C	NM_015378		12309333	12309333	+1	no_errors	ENST00000358136	ensembl	human	known	69_37n	silent	139	18.24	31	SNP	0.998	A
VPS13D	55187	genome.wustl.edu	37	1	12343611	12343611	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:12343611G>A	ENST00000358136.3	+	21	5582	c.5452G>A	c.(5452-5454)Gat>Aat	p.D1818N	VPS13D_ENST00000356315.4_Missense_Mutation_p.D1818N	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TAATTGCTTGGATGTGCTGAT	0.433																																						dbGAP											0													184.0	177.0	180.0					1																	12343611		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.5452G>A	1.37:g.12343611G>A	ENSP00000350854:p.Asp1818Asn			Nonsense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.W640*	ENST00000358136.3	37	c.1920	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.110381|5.110381	0.94292|0.94292	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.54279|.	0.58;0.59|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.78027|.	0.4219|.	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.996|.	T|.	0.75581|.	-0.3268|.	10|.	0.32370|.	T|.	0.25|.	.|.	20.3206|20.3206	0.98668|0.98668	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1818;1818|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	N|X	1818|640	ENSP00000348666:D1818N;ENSP00000350854:D1818N|.	ENSP00000348666:D1818N|.	D|W	+|+	1|3	0|0	VPS13D|VPS13D	12266198|12266198	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.476000|9.476000	0.97823|0.97823	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	GAT|TGG	VPS13D	-	NULL	ENSG00000048707		0.433	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	212	0.00	0	G	NM_015378		12343611	12343611	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000011700	ensembl	human	novel	69_37n	nonsense	49	15.52	9	SNP	1.000	A
VPS16	64601	genome.wustl.edu	37	20	2842330	2842330	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:2842330C>T	ENST00000380445.3	+	9	951	c.879C>T	c.(877-879)ggC>ggT	p.G293G	VPS16_ENST00000380443.3_5'Flank|VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Silent_p.G293G|PTPRA_ENST00000380393.3_5'Flank	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	293					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TGGTGGTGGGCGATGCACCCG	0.617																																						dbGAP											0													80.0	69.0	73.0					20																	2842330		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.879C>T	20.37:g.2842330C>T			Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Silent	SNP	pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16	p.G293	ENST00000380445.3	37	c.879	CCDS13036.1	20																																																																																			VPS16	-	pfam_Vps16_N,pirsf_VPS16	ENSG00000215305		0.617	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS16	HGNC	protein_coding	OTTHUMT00000077658.2	312	0.64	2	C	NM_022575		2842330	2842330	+1	no_errors	ENST00000380445	ensembl	human	known	69_37n	silent	252	12.11	35	SNP	0.531	T
WAPAL	23063	genome.wustl.edu	37	10	88206188	88206188	+	Missense_Mutation	SNP	G	G	A	rs113314659		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:88206188G>A	ENST00000298767.5	-	16	3605	c.3133C>T	c.(3133-3135)Cgg>Tgg	p.R1045W	WAPAL_ENST00000263070.7_Missense_Mutation_p.R257W|WAPAL_ENST00000372075.1_Missense_Mutation_p.R257W|WAPAL_ENST00000484070.1_5'Flank	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	1045	WAPL. {ECO:0000255|PROSITE- ProRule:PRU00603}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TGGGCTGCCCGCTCTCGCTCA	0.383																																						dbGAP											0													80.0	73.0	76.0					10																	88206188		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.3133C>T	10.37:g.88206188G>A	ENSP00000298767:p.Arg1045Trp		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	pfam_WAPL_prot,superfamily_ARM-type_fold	p.R1130W	ENST00000298767.5	37	c.3388	CCDS7375.1	10	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011167	0.75046	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076;ENST00000372075;ENST00000263070	T	0.51071	0.72	5.78	1.53	0.23141	Armadillo-type fold (1);	0.134805	0.51477	D	0.000085	T	0.56140	0.1965	L	0.36672	1.1	0.29418	N	0.860752	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;P	0.67548	0.927;0.952;0.927;0.855	T	0.60520	-0.7247	10	0.87932	D	0	.	15.1739	0.72896	0.0:0.0:0.5023:0.4977	.	1039;1083;1045;1082	B2RTX8;E9PH12;Q7Z5K2;Q7Z5K2-2	.;.;WAPL_HUMAN;.	W	1130;1045;1130;257;257	ENSP00000298767:R1045W	ENSP00000263070:R257W	R	-	1	2	WAPAL	88196168	1.000000	0.71417	0.874000	0.34290	0.977000	0.68977	3.997000	0.57016	0.011000	0.14865	0.655000	0.94253	CGG	WAPAL	-	superfamily_ARM-type_fold	ENSG00000062650		0.383	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WAPAL	HGNC	protein_coding	OTTHUMT00000049151.2	151	0.66	1	G	NM_015045		88206188	88206188	-1	no_errors	ENST00000342368	ensembl	human	known	69_37n	missense	84	12.37	12	SNP	1.000	A
VWA2	340706	genome.wustl.edu	37	10	116014800	116014800	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:116014800C>A	ENST00000392982.3	+	4	504	c.254C>A	c.(253-255)cCc>cAc	p.P85H	VWA2_ENST00000603594.1_Missense_Mutation_p.P85H			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	85	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GACATCAGCCCCGAGAGGGTG	0.517																																						dbGAP											0													169.0	147.0	155.0					10																	116014800		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.254C>A	10.37:g.116014800C>A	ENSP00000376708:p.Pro85His		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	pfam_VWF_A,pfam_EGF-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A	p.P85H	ENST00000392982.3	37	c.254		10	.	.	.	.	.	.	.	.	.	.	C	14.44	2.537538	0.45176	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	D	0.85013	-1.93	5.87	-0.891	0.10573	von Willebrand factor, type A (3);	0.407682	0.27189	N	0.020502	D	0.90459	0.7012	M	0.92268	3.29	0.09310	N	1	D;D	0.61080	0.989;0.986	P;P	0.61533	0.89;0.825	T	0.82186	-0.0582	10	0.54805	T	0.06	.	5.0938	0.14723	0.13:0.4652:0.0:0.4048	.	85;85	Q5GFL6;Q5GFL6-2	VWA2_HUMAN;.	H	85	ENSP00000376708:P85H	ENSP00000298715:P85H	P	+	2	0	VWA2	116004790	0.002000	0.14202	0.000000	0.03702	0.378000	0.30076	0.681000	0.25320	-0.351000	0.08249	0.655000	0.94253	CCC	VWA2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000165816		0.517	VWA2-001	KNOWN	basic|appris_principal	protein_coding	VWA2	HGNC	protein_coding	OTTHUMT00000050456.3	169	0.00	0	C	NM_198496		116014800	116014800	+1	no_errors	ENST00000392982	ensembl	human	known	69_37n	missense	127	18.06	28	SNP	0.007	A
WASF1	8936	genome.wustl.edu	37	6	110422810	110422810	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:110422810T>C	ENST00000392589.1	-	10	2339	c.1503A>G	c.(1501-1503)ctA>ctG	p.L501L	WASF1_ENST00000392587.2_Silent_p.L501L|WASF1_ENST00000392588.1_Silent_p.L501L|WASF1_ENST00000359451.2_Silent_p.L501L|WASF1_ENST00000392586.1_Silent_p.L501L	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	501	WH2. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		TTGCTTCCAGTAGCACACTCC	0.408																																						dbGAP											0													128.0	126.0	127.0					6																	110422810		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"""A-kinase anchor proteins"""	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.1503A>G	6.37:g.110422810T>C			E1P5F2|Q5SZK7	Silent	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.L501	ENST00000392589.1	37	c.1503	CCDS5080.1	6																																																																																			WASF1	-	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	ENSG00000112290		0.408	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF1	HGNC	protein_coding	OTTHUMT00000041784.3	305	0.00	0	T	NM_003931		110422810	110422810	-1	no_errors	ENST00000359451	ensembl	human	known	69_37n	silent	40	16.67	8	SNP	0.983	C
WASF1	8936	genome.wustl.edu	37	6	110424708	110424708	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr6:110424708G>A	ENST00000392589.1	-	9	1602	c.766C>T	c.(766-768)Cca>Tca	p.P256S	WASF1_ENST00000392587.2_Missense_Mutation_p.P256S|WASF1_ENST00000392588.1_Missense_Mutation_p.P256S|WASF1_ENST00000359451.2_Missense_Mutation_p.P256S|WASF1_ENST00000392586.1_Missense_Mutation_p.P256S	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	256					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		TGACTAAATGGCAAGGCAGAA	0.423																																						dbGAP											0													158.0	138.0	145.0					6																	110424708		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"""A-kinase anchor proteins"""	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.766C>T	6.37:g.110424708G>A	ENSP00000376368:p.Pro256Ser		E1P5F2|Q5SZK7	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.P256S	ENST00000392589.1	37	c.766	CCDS5080.1	6	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090589	0.76756	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.51	5.51	0.81932	.	0.099573	0.64402	D	0.000001	T	0.46444	0.1393	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.52102	-0.8620	10	0.48119	T	0.1	.	19.7791	0.96410	0.0:0.0:1.0:0.0	.	256	Q92558	WASF1_HUMAN	S	256	ENSP00000376365:P256S;ENSP00000376366:P256S;ENSP00000376368:P256S;ENSP00000376367:P256S;ENSP00000352425:P256S	ENSP00000352425:P256S	P	-	1	0	WASF1	110531401	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.226000	0.95229	2.763000	0.94921	0.650000	0.86243	CCA	WASF1	-	NULL	ENSG00000112290		0.423	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF1	HGNC	protein_coding	OTTHUMT00000041784.3	359	0.00	0	G	NM_003931		110424708	110424708	-1	no_errors	ENST00000359451	ensembl	human	known	69_37n	missense	35	18.60	8	SNP	1.000	A
WBSCR17	64409	genome.wustl.edu	37	7	70800547	70800547	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:70800547T>C	ENST00000333538.5	+	2	884	c.250T>C	c.(250-252)Tcc>Ccc	p.S84P	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	84					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CTTATCCAAATCCCTTGGGCT	0.468																																						dbGAP											0													34.0	40.0	38.0					7																	70800547		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.250T>C	7.37:g.70800547T>C	ENSP00000329654:p.Ser84Pro		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.S84P	ENST00000333538.5	37	c.250	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	T	6.165	0.398572	0.11696	.	.	ENSG00000185274	ENST00000333538;ENST00000447516	T;T	0.55760	0.5;1.87	4.89	4.89	0.63831	.	2.493090	0.01111	N	0.005564	T	0.33962	0.0881	N	0.04508	-0.205	0.58432	D	0.999999	B	0.10296	0.003	B	0.06405	0.002	T	0.23547	-1.0185	10	0.02654	T	1	.	13.8154	0.63287	0.0:0.0:0.0:1.0	.	84	Q6IS24	GLTL3_HUMAN	P	84;62	ENSP00000329654:S84P;ENSP00000392019:S62P	ENSP00000329654:S84P	S	+	1	0	WBSCR17	70438483	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.525000	0.81892	2.045000	0.60652	0.402000	0.26972	TCC	WBSCR17	-	NULL	ENSG00000185274		0.468	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	16	0.00	0	T	NM_022479		70800547	70800547	+1	no_errors	ENST00000333538	ensembl	human	known	69_37n	missense	14	39.13	9	SNP	1.000	C
WDR19	57728	genome.wustl.edu	37	4	39276470	39276470	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:39276470G>T	ENST00000399820.3	+	33	3762	c.3608G>T	c.(3607-3609)aGg>aTg	p.R1203M	WDR19_ENST00000288634.7_Missense_Mutation_p.R1043M	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1203					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						GAGTGTCACAGGGCAGGCCTG	0.483																																						dbGAP											0													157.0	146.0	150.0					4																	39276470		2005	4181	6186	-	-	-	SO:0001583	missense	0			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.3608G>T	4.37:g.39276470G>T	ENSP00000382717:p.Arg1203Met		B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.R1203M	ENST00000399820.3	37	c.3608	CCDS47042.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.147169	0.94603	.	.	ENSG00000157796	ENST00000399820;ENST00000288634	T;T	0.72835	-0.69;-0.62	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.87787	0.6265	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.89612	0.3842	10	0.87932	D	0	-19.6966	19.7838	0.96428	0.0:0.0:1.0:0.0	.	1203	Q8NEZ3	WDR19_HUMAN	M	1203;1043	ENSP00000382717:R1203M;ENSP00000288634:R1043M	ENSP00000288634:R1043M	R	+	2	0	WDR19	38952865	1.000000	0.71417	0.993000	0.49108	0.931000	0.56810	9.822000	0.99363	2.664000	0.90586	0.591000	0.81541	AGG	WDR19	-	NULL	ENSG00000157796		0.483	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR19	HGNC	protein_coding	OTTHUMT00000360689.1	286	0.00	0	G			39276470	39276470	+1	no_errors	ENST00000399820	ensembl	human	known	69_37n	missense	154	10.92	19	SNP	1.000	T
WDR17	116966	genome.wustl.edu	37	4	177095863	177095863	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr4:177095863A>G	ENST00000280190.4	+	28	3716	c.3560A>G	c.(3559-3561)tAc>tGc	p.Y1187C	WDR17_ENST00000508596.1_Missense_Mutation_p.Y1148C|WDR17_ENST00000393643.2_Missense_Mutation_p.Y1163C|WDR17_ENST00000507824.2_Missense_Mutation_p.Y1162C			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1187										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTTTATGAGTACACAAGGTAA	0.353																																						dbGAP											0													124.0	110.0	115.0					4																	177095863		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3560A>G	4.37:g.177095863A>G	ENSP00000280190:p.Tyr1187Cys		E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Y1187C	ENST00000280190.4	37	c.3560	CCDS3825.1	4	.	.	.	.	.	.	.	.	.	.	A	19.83	3.899448	0.72754	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.60299	0.2;0.2;0.2	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000001	T	0.74891	0.3776	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.944;0.998;0.998	T	0.76195	-0.3048	10	0.49607	T	0.09	-14.3901	15.799	0.78436	1.0:0.0:0.0:0.0	.	1163;1148;1187	E7EP77;E7EQX0;Q8IZU2	.;.;WDR17_HUMAN	C	1148;1163;1187;1163	ENSP00000422763:Y1148C;ENSP00000377258:Y1163C;ENSP00000280190:Y1187C	ENSP00000280190:Y1187C	Y	+	2	0	WDR17	177332857	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.972000	0.76110	2.206000	0.71126	0.482000	0.46254	TAC	WDR17	-	NULL	ENSG00000150627		0.353	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	229	0.00	0	A			177095863	177095863	+1	no_errors	ENST00000280190	ensembl	human	known	69_37n	missense	99	11.61	13	SNP	1.000	G
WDR35	57539	genome.wustl.edu	37	2	20175335	20175335	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:20175335C>T	ENST00000345530.3	-	6	641	c.526G>A	c.(526-528)Gca>Aca	p.A176T	WDR35_ENST00000281405.4_Missense_Mutation_p.A176T|WDR35_ENST00000416055.2_5'UTR	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	176					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCCATTTGCCATTCCAAAA	0.343																																						dbGAP											0													99.0	88.0	92.0					2																	20175335		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.526G>A	2.37:g.20175335C>T	ENSP00000314444:p.Ala176Thr		B3KVI5|Q4ZG01|Q8NE11	Nonsense_Mutation	SNP	NULL	p.W21*	ENST00000345530.3	37	c.63	CCDS33152.1	2	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319685	0.60524	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.37235	1.21;1.21	5.11	4.24	0.50183	WD40/YVTN repeat-like-containing domain (1);	0.166793	0.52532	N	0.000075	T	0.25606	0.0623	L	0.31664	0.95	0.80722	D	1	B;B	0.15719	0.014;0.001	B;B	0.15870	0.014;0.006	T	0.04915	-1.0918	10	0.15066	T	0.55	-10.043	13.1604	0.59540	0.0:0.9222:0.0:0.0778	.	176;176	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	T	176	ENSP00000314444:A176T;ENSP00000281405:A176T	ENSP00000281405:A176T	A	-	1	0	WDR35	20038816	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.690000	0.47001	1.295000	0.44724	0.563000	0.77884	GCA	WDR35	-	NULL	ENSG00000118965		0.343	WDR35-001	KNOWN	basic|CCDS	protein_coding	WDR35	HGNC	protein_coding	OTTHUMT00000207472.2	137	0.00	0	C	NM_020779		20175335	20175335	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000445063	ensembl	human	known	69_37n	nonsense	24	17.24	5	SNP	1.000	T
WDR49	151790	genome.wustl.edu	37	3	167277883	167277883	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:167277883A>C	ENST00000308378.3	-	5	925	c.620T>G	c.(619-621)cTt>cGt	p.L207R	WDR49_ENST00000453925.2_Missense_Mutation_p.L260R|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.L32R	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	207										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GCCAGTCAAAAGCCGAGTCTC	0.453																																						dbGAP											0													185.0	170.0	175.0					3																	167277883		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.620T>G	3.37:g.167277883A>C	ENSP00000311343:p.Leu207Arg		Q8N297	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L207R	ENST00000308378.3	37	c.620	CCDS3201.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.77|17.77	3.471841|3.471841	0.63737|0.63737	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000472600|ENST00000308378;ENST00000476376;ENST00000453925;ENST00000466760	.|T;T;T;T	.|0.79247	.|-0.51;-0.51;-0.51;-1.25	4.94|4.94	4.94|4.94	0.65067|0.65067	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90235|0.90235	0.6947|0.6947	M|M	0.93016|0.93016	3.37|3.37	0.35917|0.35917	D|D	0.831527|0.831527	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.83275	.|0.995;0.996	D|D	0.94751|0.94751	0.7927|0.7927	5|10	.|0.87932	.|D	.|0	.|.	13.8799|13.8799	0.63676|0.63676	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|260;207	.|E7EQK3;Q8IV35	.|.;WDR49_HUMAN	V|R	272|207;32;260;100	.|ENSP00000311343:L207R;ENSP00000420508:L32R;ENSP00000410863:L260R;ENSP00000418718:L100R	.|ENSP00000311343:L207R	F|L	-|-	1|2	0|0	WDR49|WDR49	168760577|168760577	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.735000|0.735000	0.41995|0.41995	7.130000|7.130000	0.77235|0.77235	1.983000|1.983000	0.57843|0.57843	0.482000|0.482000	0.46254|0.46254	TTT|CTT	WDR49	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000174776		0.453	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR49	HGNC	protein_coding	OTTHUMT00000350592.3	290	0.34	1	A	NM_178824		167277883	167277883	-1	no_errors	ENST00000308378	ensembl	human	known	69_37n	missense	91	10.78	11	SNP	1.000	C
WDR72	256764	genome.wustl.edu	37	15	54015098	54015099	+	Frame_Shift_Ins	INS	-	-	AATT	rs200899249		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:54015098_54015099insAATT	ENST00000396328.1	-	3	399_400	c.160_161insAATT	c.(160-162)gcgfs	p.A54fs	WDR72_ENST00000360509.5_Frame_Shift_Ins_p.A54fs|WDR72_ENST00000557913.1_Frame_Shift_Ins_p.A54fs|WDR72_ENST00000559418.1_Frame_Shift_Ins_p.A54fs	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	54										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GAGTTCTTTCGCTGAAATCTGA	0.351																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.160_161insAATT	15.37:g.54015098_54015099insAATT	ENSP00000379619:p.Ala54fs		Q7Z3I3|Q8N8X2	Frame_Shift_Ins	INS	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A54fs	ENST00000396328.1	37	c.161_160	CCDS10151.1	15																																																																																			WDR72	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000166415		0.351	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR72	HGNC	protein_coding	OTTHUMT00000254893.2	95	0.00	0	-	NM_182758		54015098	54015099	-1	no_errors	ENST00000360509	ensembl	human	known	69_37n	frame_shift_ins	14	12.50	2	INS	0.998:1.000	AATT
WDR88	126248	genome.wustl.edu	37	19	33655137	33655137	+	Missense_Mutation	SNP	G	G	A	rs11668547		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:33655137G>A	ENST00000355868.3	+	9	1191	c.1115G>A	c.(1114-1116)aGc>aAc	p.S372N	WDR88_ENST00000361680.2_Missense_Mutation_p.S372N	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	372										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					GTTGCCATTAGCAACAACAAG	0.373																																						dbGAP											0													163.0	151.0	155.0					19																	33655137		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.1115G>A	19.37:g.33655137G>A	ENSP00000348129:p.Ser372Asn		Q8NEF8	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_PQQ_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_PQQ_beta_propeller_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S372N	ENST00000355868.3	37	c.1115	CCDS12429.1	19	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152301	0.57259	.	.	ENSG00000166359	ENST00000355868;ENST00000361680	T;T	0.54675	0.56;0.56	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.189542	0.52532	D	0.000062	T	0.66684	0.2814	L	0.42744	1.35	0.25418	N	0.9883	D	0.89917	1.0	D	0.91635	0.999	T	0.61983	-0.6950	10	0.87932	D	0	.	17.2585	0.87064	0.0:0.0:1.0:0.0	.	372	Q6ZMY6	WDR88_HUMAN	N	372	ENSP00000348129:S372N;ENSP00000355148:S372N	ENSP00000348129:S372N	S	+	2	0	WDR88	38346977	1.000000	0.71417	0.546000	0.28166	0.488000	0.33401	5.106000	0.64597	2.413000	0.81919	0.561000	0.74099	AGC	WDR88	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000166359		0.373	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR88	HGNC	protein_coding	OTTHUMT00000450840.1	376	0.00	0	G	NM_173479		33655137	33655137	+1	no_errors	ENST00000355868	ensembl	human	known	69_37n	missense	154	17.20	32	SNP	0.980	A
WDR87	83889	genome.wustl.edu	37	19	38383936	38383936	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:38383936A>G	ENST00000303868.5	-	4	2514	c.2290T>C	c.(2290-2292)Tat>Cat	p.Y764H	WDR87_ENST00000447313.2_Missense_Mutation_p.Y803H	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	764										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						AATATCTGATAGGGGTTGAGT	0.502																																						dbGAP											0													99.0	85.0	89.0					19																	38383936		692	1591	2283	-	-	-	SO:0001583	missense	0			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.2290T>C	19.37:g.38383936A>G	ENSP00000368025:p.Tyr764His		Q9BWV9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y803H	ENST00000303868.5	37	c.2407	CCDS46063.1	19	.	.	.	.	.	.	.	.	.	.	A	13.52	2.262289	0.39995	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.11930	2.73;2.74	5.24	5.24	0.73138	.	0.485642	0.19436	N	0.114320	T	0.35068	0.0919	M	0.72894	2.215	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.14062	-1.0486	10	0.72032	D	0.01	-25.863	11.4414	0.50099	1.0:0.0:0.0:0.0	.	764;803	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	H	803;764	ENSP00000405012:Y803H;ENSP00000368025:Y764H	ENSP00000368025:Y764H	Y	-	1	0	WDR87	43075776	0.296000	0.24398	0.723000	0.30687	0.925000	0.55904	3.053000	0.49901	2.186000	0.69663	0.523000	0.50628	TAT	WDR87	-	NULL	ENSG00000171804		0.502	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	184	0.00	0	A	XM_940478		38383936	38383936	-1	no_errors	ENST00000447313	ensembl	human	known	69_37n	missense	80	12.09	11	SNP	0.024	G
WDR92	116143	genome.wustl.edu	37	2	68358525	68358525	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:68358525C>T	ENST00000295121.6	-	8	1035	c.919G>A	c.(919-921)Gtc>Atc	p.V307I	RP11-474G23.1_ENST00000406334.3_3'UTR|WDR92_ENST00000492039.2_5'UTR	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	307					apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968)		methylated histone binding (GO:0035064)			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						GAACCTGCGACTCCCATTTCT	0.438																																						dbGAP											0													111.0	104.0	106.0					2																	68358525		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056303	CCDS1884.1, CCDS58712.1	2p14	2013-01-09			ENSG00000243667	ENSG00000243667		"""WD repeat domain containing"""	25176	protein-coding gene	gene with protein product		610729				16487927	Standard	NM_138458		Approved	FLJ31741, Monad	uc002see.2	Q96MX6	OTTHUMG00000152561	ENST00000295121.6:c.919G>A	2.37:g.68358525C>T	ENSP00000295121:p.Val307Ile		Q96CR6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V307I	ENST00000295121.6	37	c.919	CCDS1884.1	2	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677254	0.68042	.	.	ENSG00000243667	ENST00000295121	D	0.90563	-2.69	5.77	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.56097	D	0.000032	D	0.88680	0.6502	M	0.66297	2.02	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	D	0.84504	0.0618	10	0.44086	T	0.13	.	12.893	0.58082	0.0:0.925:0.0:0.075	.	307	Q96MX6	WDR92_HUMAN	I	307	ENSP00000295121:V307I	ENSP00000295121:V307I	V	-	1	0	WDR92	68212029	1.000000	0.71417	0.865000	0.33974	0.979000	0.70002	5.733000	0.68571	2.890000	0.99128	0.585000	0.79938	GTC	WDR92	-	superfamily_WD40_repeat_dom	ENSG00000243667		0.438	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR92	HGNC	protein_coding	OTTHUMT00000251754.2	86	0.00	0	C	NM_138458		68358525	68358525	-1	no_errors	ENST00000295121	ensembl	human	known	69_37n	missense	28	12.50	4	SNP	0.998	T
WHAMMP3	339005	genome.wustl.edu	37	15	23205108	23205108	+	RNA	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:23205108C>T	ENST00000400153.2	-	0	746					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		GTGGTTGCCACGGTAACTAAT	0.393																																						dbGAP											0																																										-	-	-			0			BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205108C>T			Q1A5X8|Q52M16|Q52M18	RNA	SNP	-	NULL	ENST00000400153.2	37	NULL		15																																																																																			WHAMMP3	-	-	ENSG00000187667		0.393	WHAMMP3-001	KNOWN	basic	processed_transcript	WHAMMP3	HGNC	pseudogene	OTTHUMT00000415907.1	280	0.00	0	C	NR_003521		23205108	23205108	-1	no_errors	ENST00000400153	ensembl	human	known	69_37n	rna	242	11.31	31	SNP	1.000	T
WHAMMP2	440253	genome.wustl.edu	37	15	28989968	28989968	+	RNA	SNP	G	G	T	rs200083792	byFrequency	TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr15:28989968G>T	ENST00000512149.2	+	0	0					NR_026589.1				WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 2																		GAATGGACCAGACGGGCTGGA	0.408																																						dbGAP											0																																										-	-	-			0			BC035099		15q13.1	2014-03-20	2011-06-24	2011-06-24	ENSG00000248334	ENSG00000248334			32360	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 2 (pseudogene)"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 2 (pseudogene)"""	WHDC1L2, WHAMML2			Standard	NR_026589		Approved		uc010uap.2		OTTHUMG00000176340		15.37:g.28989968G>T				RNA	SNP	-	NULL	ENST00000512149.2	37	NULL		15																																																																																			WHAMMP2	-	-	ENSG00000248334		0.408	WHAMMP2-003	PUTATIVE	basic	processed_transcript	WHAMMP2	HGNC	pseudogene	OTTHUMT00000431783.1	49	0.00	0	G	NR_026589		28989968	28989968	+1	no_errors	ENST00000508764	ensembl	human	putative	69_37n	rna	41	12.77	6	SNP	0.204	T
WNT2B	7482	genome.wustl.edu	37	1	113059818	113059818	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:113059818C>T	ENST00000369684.4	+	4	1242	c.757C>T	c.(757-759)Cgt>Tgt	p.R253C	WNT2B_ENST00000256640.5_Missense_Mutation_p.R161C|WNT2B_ENST00000369686.5_Missense_Mutation_p.R234C|RP4-671G15.2_ENST00000608357.1_RNA	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	253					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACCTGCTGGCGTGCACTCTC	0.607																																						dbGAP											0													83.0	67.0	72.0					1																	113059818		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"""Wingless-type MMTV integration sites"""	12781	protein-coding gene	gene with protein product	"""XWNT2, Xenopus, homolog of"", ""wingless-type MMTV integration site family, member 13"""	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.757C>T	1.37:g.113059818C>T	ENSP00000358698:p.Arg253Cys		O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2	p.R253C	ENST00000369684.4	37	c.757	CCDS847.1	1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456559	0.84317	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.76968	-1.06;-1.06;-1.06	5.53	4.59	0.56863	.	0.320146	0.31936	N	0.006825	T	0.77412	0.4126	M	0.79805	2.47	0.80722	D	1	P;D	0.60160	0.919;0.987	P;P	0.52710	0.601;0.707	T	0.80455	-0.1375	10	0.59425	D	0.04	.	9.3549	0.38159	0.1502:0.774:0.0:0.0758	.	253;234	Q93097;Q93097-2	WNT2B_HUMAN;.	C	161;234;253	ENSP00000256640:R161C;ENSP00000358700:R234C;ENSP00000358698:R253C	ENSP00000256640:R161C	R	+	1	0	WNT2B	112861341	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.171000	0.42453	1.269000	0.44280	0.555000	0.69702	CGT	WNT2B	-	pfam_Wnt,smart_Wnt	ENSG00000134245		0.607	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT2B	HGNC	protein_coding	OTTHUMT00000030692.1	133	0.00	0	C	NM_004185		113059818	113059818	+1	no_errors	ENST00000369684	ensembl	human	known	69_37n	missense	115	12.21	16	SNP	1.000	T
WRN	7486	genome.wustl.edu	37	8	30999101	30999101	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr8:30999101C>T	ENST00000298139.5	+	25	3372	c.3123C>T	c.(3121-3123)tgC>tgT	p.C1041C		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1041					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.C1041C(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TGAAGATTTGCGCCCTTACGA	0.403			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	dbGAP	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"""L, E, M, O"""	1	Substitution - coding silent(1)	endometrium(1)											103.0	101.0	102.0					8																	30999101		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.3123C>T	8.37:g.30999101C>T			A1KYY9	Silent	SNP	pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.C1041	ENST00000298139.5	37	c.3123	CCDS6082.1	8																																																																																			WRN	-	pfam_RQC_domain,smart_RQC_domain	ENSG00000165392		0.403	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	HGNC	protein_coding	OTTHUMT00000376248.1	104	0.00	0	C			30999101	30999101	+1	no_errors	ENST00000298139	ensembl	human	known	69_37n	silent	65	14.47	11	SNP	0.917	T
WWP2	11060	genome.wustl.edu	37	16	69973017	69973017	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:69973017G>A	ENST00000359154.2	+	22	2532	c.2431G>A	c.(2431-2433)Gaa>Aaa	p.E811K	WWP2_ENST00000356003.2_Missense_Mutation_p.E811K|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Missense_Mutation_p.E811K|WWP2_ENST00000568684.1_Missense_Mutation_p.E372K|WWP2_ENST00000542271.1_Missense_Mutation_p.E695K	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	811	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGATTTGCCGAACTCATCGG	0.602																																						dbGAP											0													72.0	59.0	63.0					16																	69973017		2197	4299	6496	-	-	-	SO:0001583	missense	0			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.2431G>A	16.37:g.69973017G>A	ENSP00000352069:p.Glu811Lys		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP	p.E811K	ENST00000359154.2	37	c.2431	CCDS10885.1	16	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458325	0.84317	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.16	5.16	0.70880	HECT (4);	0.000000	0.85682	D	0.000000	T	0.69984	0.3172	L	0.59912	1.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68926	-0.5280	9	.	.	.	.	18.6562	0.91455	0.0:0.0:1.0:0.0	.	811	O00308	WWP2_HUMAN	K	811;811;811;698;695	ENSP00000352069:E811K;ENSP00000396871:E811K;ENSP00000348283:E811K;ENSP00000445616:E695K	.	E	+	1	0	WWP2	68530518	1.000000	0.71417	0.726000	0.30738	0.138000	0.21146	9.869000	0.99810	2.410000	0.81850	0.561000	0.74099	GAA	WWP2	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000198373		0.602	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP2	HGNC	protein_coding	OTTHUMT00000268954.1	222	0.00	0	G	NM_007014		69973017	69973017	+1	no_errors	ENST00000356003	ensembl	human	known	69_37n	missense	225	28.25	89	SNP	1.000	A
XPNPEP2	7512	genome.wustl.edu	37	X	128877936	128877936	+	Splice_Site	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:128877936G>A	ENST00000371106.3	+	3	315		c.e3-1		XPNPEP2_ENST00000371105.3_Splice_Site	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound							anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TCATCTGTCAGTACCTTCCAG	0.512																																						dbGAP											0													198.0	164.0	175.0					X																	128877936		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.124-1G>A	X.37:g.128877936G>A			A0AV16|O75994	Splice_Site	SNP	-	e3-1	ENST00000371106.3	37	c.124-1	CCDS14613.1	X	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497285	0.64186	.	.	ENSG00000122121	ENST00000371105;ENST00000371106	.	.	.	5.46	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3233	0.37977	0.1013:0.0:0.8987:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	XPNPEP2	128705617	1.000000	0.71417	0.948000	0.38648	0.898000	0.52572	7.937000	0.87672	1.076000	0.40961	0.513000	0.50165	.	XPNPEP2	-	-	ENSG00000122121		0.512	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPNPEP2	HGNC	protein_coding	OTTHUMT00000058210.1	389	0.00	0	G	NM_003399	Intron	128877936	128877936	+1	no_errors	ENST00000371106	ensembl	human	known	69_37n	splice_site	429	25.35	146	SNP	1.000	A
YOD1	55432	genome.wustl.edu	37	1	207222861	207222861	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:207222861C>A	ENST00000315927.4	-	2	597	c.551G>T	c.(550-552)cGc>cTc	p.R184L	YOD1_ENST00000391927.1_Missense_Mutation_p.R140L|PFKFB2_ENST00000411990.2_5'UTR|YOD1_ENST00000367084.1_Missense_Mutation_p.R140L	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	184	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)	p.R184H(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					TGCTATGAGGCGTCTCATCTC	0.468																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											98.0	95.0	96.0					1																	207222861		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"""OTU domain containing"""	25035	protein-coding gene	gene with protein product		612023	"""YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)"", ""YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"""				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.551G>T	1.37:g.207222861C>A	ENSP00000326813:p.Arg184Leu		B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.R184L	ENST00000315927.4	37	c.551	CCDS31002.1	1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183615	0.38609	.	.	ENSG00000180667	ENST00000367084;ENST00000315927;ENST00000391927	T;T;T	0.31247	1.5;1.5;1.5	5.71	2.4	0.29515	Ovarian tumour, otubain (2);	0.237415	0.49916	D	0.000125	T	0.20373	0.0490	N	0.20986	0.625	0.80722	D	1	B;B	0.32010	0.21;0.351	B;B	0.35607	0.058;0.206	T	0.05053	-1.0909	10	0.31617	T	0.26	-0.5815	9.5812	0.39488	0.0:0.6315:0.0:0.3685	.	140;184	Q5VVQ6-2;Q5VVQ6	.;OTU1_HUMAN	L	140;184;140	ENSP00000356051:R140L;ENSP00000326813:R184L;ENSP00000375793:R140L	ENSP00000326813:R184L	R	-	2	0	YOD1	205289484	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.162000	0.42367	0.770000	0.33336	0.655000	0.94253	CGC	YOD1	-	pfam_OTU,pfscan_OTU	ENSG00000180667		0.468	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	YOD1	HGNC	protein_coding	OTTHUMT00000087837.1	162	0.00	0	C	NM_018566		207222861	207222861	-1	no_errors	ENST00000315927	ensembl	human	known	69_37n	missense	206	30.43	91	SNP	0.994	A
MAP3K19	80122	genome.wustl.edu	37	2	135743899	135743899	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr2:135743899G>A	ENST00000375845.3	-	7	2573	c.2543C>T	c.(2542-2544)cCa>cTa	p.P848L	MAP3K19_ENST00000392915.1_Missense_Mutation_p.P865L|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P735L|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	848							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										AGGGATAAATGGGATCTGGTG	0.413																																						dbGAP											0													121.0	118.0	119.0					2																	135743899		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2543C>T	2.37:g.135743899G>A	ENSP00000365005:p.Pro848Leu		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P848L	ENST00000375845.3	37	c.2543	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	G	5.074	0.199326	0.09652	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.71579	-0.47;-0.45;1.9;-0.58	4.67	3.71	0.42584	.	1.274970	0.05531	N	0.563950	T	0.67850	0.2937	L	0.42245	1.32	0.18873	N	0.999982	B;B;B	0.29301	0.0;0.241;0.0	B;B;B	0.32533	0.001;0.147;0.0	T	0.58020	-0.7710	10	0.52906	T	0.07	.	11.7446	0.51813	0.0:0.0:0.813:0.187	.	735;865;848	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	L	848;735;865;238	ENSP00000365005:P848L;ENSP00000351140:P735L;ENSP00000376647:P865L;ENSP00000392827:P238L	ENSP00000351140:P735L	P	-	2	0	YSK4	135460369	0.000000	0.05858	0.038000	0.18304	0.487000	0.33371	0.631000	0.24568	2.400000	0.81607	0.455000	0.32223	CCA	YSK4	-	NULL	ENSG00000176601		0.413	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YSK4	HGNC	protein_coding	OTTHUMT00000158244.1	169	0.00	0	G	NM_025052		135743899	135743899	-1	no_errors	ENST00000375845	ensembl	human	known	69_37n	missense	62	18.42	14	SNP	0.008	A
ZBTB38	253461	genome.wustl.edu	37	3	141162773	141162773	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:141162773C>T	ENST00000514251.1	+	4	1822	c.1543C>T	c.(1543-1545)Cga>Tga	p.R515*	ZBTB38_ENST00000441582.2_Nonsense_Mutation_p.R515*|ZBTB38_ENST00000321464.5_Nonsense_Mutation_p.R516*					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GGGAGAAAGACGATATCAGTG	0.398																																						dbGAP											0													94.0	87.0	89.0					3																	141162773		1904	4124	6028	-	-	-	SO:0001587	stop_gained	0			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1543C>T	3.37:g.141162773C>T	ENSP00000426387:p.Arg515*			Nonsense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R516*	ENST00000514251.1	37	c.1546	CCDS43157.1	3	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953714	0.92660	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	.	.	.	5.39	4.5	0.54988	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.807	15.1705	0.72869	0.1522:0.8478:0.0:0.0	.	.	.	.	X	515;515;515;516	.	.	R	+	1	2	ZBTB38	142645463	1.000000	0.71417	0.990000	0.47175	0.701000	0.40568	2.878000	0.48515	1.239000	0.43787	-0.284000	0.09977	CGA	ZBTB38	-	pfscan_Znf_C2H2	ENSG00000177311		0.398	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	101	0.00	0	C			141162773	141162773	+1	no_errors	ENST00000321464	ensembl	human	known	69_37n	nonsense	32	11.11	4	SNP	1.000	T
ZBTB7A	51341	genome.wustl.edu	37	19	4055153	4055153	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:4055153C>T	ENST00000322357.4	-	2	356	c.78G>A	c.(76-78)gaG>gaA	p.E26E	ZBTB7A_ENST00000601588.1_Silent_p.E26E	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	26					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTCCGCTGCTCGTTCAGCC	0.697																																						dbGAP											0													25.0	27.0	26.0					19																	4055153		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.78G>A	19.37:g.4055153C>T			D6W619|O00456|Q14D41|Q5XG86	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E26	ENST00000322357.4	37	c.78	CCDS12119.1	19																																																																																			ZBTB7A	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold	ENSG00000178951		0.697	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7A	HGNC	protein_coding	OTTHUMT00000457621.2	44	0.00	0	C	NM_015898		4055153	4055153	-1	no_errors	ENST00000322357	ensembl	human	known	69_37n	silent	59	10.45	7	SNP	1.000	T
ZNF112	7771	genome.wustl.edu	37	19	44832281	44832281	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:44832281G>T	ENST00000337401.4	-	5	2135	c.2047C>A	c.(2047-2049)Cat>Aat	p.H683N	ZNF112_ENST00000536500.1_Missense_Mutation_p.H700N|ZNF112_ENST00000354340.4_Missense_Mutation_p.H677N	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	683					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ACCCTCTGATGGGCCAAAAGT	0.438																																						dbGAP											0													79.0	71.0	74.0					19																	44832281		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2047C>A	19.37:g.44832281G>T	ENSP00000337081:p.His683Asn		A4FU53|Q9HCA7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H700N	ENST00000337401.4	37	c.2098	CCDS54276.1	19	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045156	0.75846	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	D;D;D	0.86865	-2.18;-2.18;-2.18	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35040	N	0.003494	D	0.95258	0.8462	M	0.93678	3.445	0.48975	D	0.999736	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96402	0.9297	10	0.87932	D	0	-26.4745	17.4332	0.87544	0.0:0.0:1.0:0.0	.	682;700;683	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	N	683;683;677;700;682	ENSP00000337081:H683N;ENSP00000346305:H677N;ENSP00000441990:H700N	ENSP00000253426:H682N	H	-	1	0	ZNF285	49524121	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.482000	0.81143	2.484000	0.83849	0.655000	0.94253	CAT	ZFP112	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000062370		0.438	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFP112	HGNC	protein_coding	OTTHUMT00000460744.1	112	0.00	0	G	NM_013380		44832281	44832281	-1	no_errors	ENST00000536500	ensembl	human	known	69_37n	missense	15	31.82	7	SNP	1.000	T
ZFP90	146198	genome.wustl.edu	37	16	68597461	68597461	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:68597461C>T	ENST00000570495.1	+	5	1063	c.771C>T	c.(769-771)acC>acT	p.T257T	ZFP90_ENST00000398253.2_Silent_p.T257T|ZFP90_ENST00000563169.2_Silent_p.T257T			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	257					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		ATGAATGTACCGACTGTGGGA	0.428																																						dbGAP											0													97.0	106.0	103.0					16																	68597461		2150	4272	6422	-	-	-	SO:0001819	synonymous_variant	0			AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.771C>T	16.37:g.68597461C>T			B2RU00|B3KVE7|Q49AD1|Q96MQ6	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.T257	ENST00000570495.1	37	c.771	CCDS42183.1	16	.	.	.	.	.	.	.	.	.	.	C	9.766	1.171500	0.21704	.	.	ENSG00000184939	ENST00000327567	.	.	.	5.7	0.634	0.17718	.	.	.	.	.	T	0.40119	0.1104	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15407	-1.0438	5	0.25751	T	0.34	-2.9245	1.6274	0.02726	0.1264:0.1457:0.2616:0.4664	.	.	.	.	L	29	.	ENSP00000329859:P29L	P	+	2	0	ZFP90	67154962	0.000000	0.05858	0.988000	0.46212	0.956000	0.61745	-1.452000	0.02385	-0.113000	0.11958	-0.295000	0.09555	CCG	ZFP90	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000184939		0.428	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP90	HGNC	protein_coding	OTTHUMT00000436217.3	46	0.00	0	C	XM_085375		68597461	68597461	+1	no_errors	ENST00000398253	ensembl	human	known	69_37n	silent	8	38.46	5	SNP	0.955	T
ZGPAT	84619	genome.wustl.edu	37	20	62366769	62366769	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:62366769C>T	ENST00000328969.5	+	6	1437	c.1310C>T	c.(1309-1311)gCg>gTg	p.A437V	LIME1_ENST00000309546.3_5'Flank|ZGPAT_ENST00000369967.3_Missense_Mutation_p.A417V|ZGPAT_ENST00000448100.2_Missense_Mutation_p.A417V|RP4-583P15.15_ENST00000490623.2_Missense_Mutation_p.R323W|ZGPAT_ENST00000355969.6_Missense_Mutation_p.A417V|ZGPAT_ENST00000357119.4_Missense_Mutation_p.A408V|RP4-583P15.14_ENST00000467211.1_5'Flank	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	437					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|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)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCGGCCCCAGCGGGGAGGAGG	0.637																																						dbGAP											0													20.0	24.0	22.0					20																	62366769		2194	4292	6486	-	-	-	SO:0001583	missense	0			AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.1310C>T	20.37:g.62366769C>T	ENSP00000332013:p.Ala437Val		E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Missense_Mutation	SNP	pfam_G_patch_dom,smart_Znf_CCCH,smart_G_patch_dom,pfscan_G_patch_dom	p.A437V	ENST00000328969.5	37	c.1310	CCDS13534.1	20	.	.	.	.	.	.	.	.	.	.	C	6.983	0.551381	0.13374	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000369967;ENST00000328969	T;T;T;T;T	0.23552	1.9;1.9;1.91;1.9;1.91	5.69	-0.0546	0.13813	.	0.799605	0.11627	N	0.545140	T	0.09642	0.0237	N	0.19112	0.55	0.09310	N	1	P;B;B	0.39920	0.695;0.389;0.335	B;B;B	0.28553	0.091;0.036;0.052	T	0.22591	-1.0212	10	0.15952	T	0.53	0.0427	4.0381	0.09738	0.0953:0.4989:0.1635:0.2423	.	408;437;417	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	V	417;417;408;417;437	ENSP00000391176:A417V;ENSP00000348242:A417V;ENSP00000349634:A408V;ENSP00000358984:A417V;ENSP00000332013:A437V	ENSP00000332013:A437V	A	+	2	0	ZGPAT	61837213	0.003000	0.15002	0.000000	0.03702	0.005000	0.04900	1.853000	0.39358	0.320000	0.23234	0.563000	0.77884	GCG	ZGPAT	-	NULL	ENSG00000197114		0.637	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	ZGPAT	HGNC	protein_coding	OTTHUMT00000080214.1	17	0.00	0	C	NM_181484		62366769	62366769	+1	no_errors	ENST00000328969	ensembl	human	known	69_37n	missense	59	20.00	15	SNP	0.000	T
ZMAT1	84460	genome.wustl.edu	37	X	101139430	101139430	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:101139430C>T	ENST00000372782.3	-	7	1016	c.969G>A	c.(967-969)aaG>aaA	p.K323K	ZMAT1_ENST00000458570.1_Silent_p.K152K|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Silent_p.K323K	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	323						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TGAAACAAGTCTTTGGATCTA	0.388																																						dbGAP											0													120.0	112.0	115.0					X																	101139430		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.969G>A	X.37:g.101139430C>T			Q8NDS3|Q96JN6	Silent	SNP	superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like	p.K323	ENST00000372782.3	37	c.969	CCDS35348.1	X																																																																																			ZMAT1	-	superfamily_Asn/Gln_tRNA_amidoTrfrase-rel	ENSG00000166432		0.388	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	HGNC	protein_coding	OTTHUMT00000057598.1	107	0.00	0	C			101139430	101139430	-1	no_errors	ENST00000372782	ensembl	human	known	69_37n	silent	22	18.52	5	SNP	0.187	T
ZMAT1	84460	genome.wustl.edu	37	X	101139436	101139436	+	Missense_Mutation	SNP	A	A	C	rs200366802		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:101139436A>C	ENST00000372782.3	-	7	1010	c.963T>G	c.(961-963)gaT>gaG	p.D321E	ZMAT1_ENST00000458570.1_Missense_Mutation_p.D150E|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.D321E	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	321						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						AAGTCTTTGGATCTAGTCCTC	0.393																																						dbGAP											0													125.0	116.0	119.0					X																	101139436		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.963T>G	X.37:g.101139436A>C	ENSP00000361868:p.Asp321Glu		Q8NDS3|Q96JN6	Missense_Mutation	SNP	superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like	p.D321E	ENST00000372782.3	37	c.963	CCDS35348.1	X	.	.	.	.	.	.	.	.	.	.	A	1.840	-0.467732	0.04476	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.25085	2.42;2.42;1.82	4.32	-7.79	0.01218	.	0.588242	0.15322	N	0.268513	T	0.09247	0.0228	N	0.17674	0.51	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.32640	-0.9899	10	0.09590	T	0.72	-2.8332	5.6725	0.17731	0.1822:0.5808:0.091:0.146	.	321	Q5H9K5	ZMAT1_HUMAN	E	321;321;150	ENSP00000361868:D321E;ENSP00000437529:D321E;ENSP00000413044:D150E	ENSP00000361868:D321E	D	-	3	2	ZMAT1	101026092	0.983000	0.35010	0.024000	0.17045	0.487000	0.33371	0.041000	0.13927	-1.782000	0.01275	-1.354000	0.01226	GAT	ZMAT1	-	superfamily_Asn/Gln_tRNA_amidoTrfrase-rel	ENSG00000166432		0.393	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	HGNC	protein_coding	OTTHUMT00000057598.1	108	0.00	0	A			101139436	101139436	-1	no_errors	ENST00000372782	ensembl	human	known	69_37n	missense	22	18.52	5	SNP	0.024	C
ZIC3	7547	genome.wustl.edu	37	X	136649035	136649035	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:136649035C>T	ENST00000287538.5	+	1	735	c.185C>T	c.(184-186)gCg>gTg	p.A62V	RP1-137H15.2_ENST00000442841.1_RNA|RP1-137H15.2_ENST00000456631.1_RNA|ZIC3_ENST00000370606.3_Missense_Mutation_p.A62V	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	62					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|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)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					AGCCCTGCCGCGGCGCACGAT	0.687																																						dbGAP											0													5.0	4.0	4.0					X																	136649035		1820	3490	5310	-	-	-	SO:0001583	missense	0			AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.185C>T	X.37:g.136649035C>T	ENSP00000287538:p.Ala62Val		B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A62V	ENST00000287538.5	37	c.185	CCDS14663.1	X	.	.	.	.	.	.	.	.	.	.	c	12.04	1.818043	0.32145	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.11821	2.74;2.79	4.46	4.46	0.54185	.	0.257767	0.38326	N	0.001731	T	0.07234	0.0183	N	0.14661	0.345	0.28706	N	0.90382	P	0.47545	0.897	B	0.35859	0.212	T	0.12553	-1.0543	10	0.48119	T	0.1	.	11.3793	0.49748	0.0:1.0:0.0:0.0	.	62	O60481	ZIC3_HUMAN	V	62	ENSP00000287538:A62V;ENSP00000359638:A62V	ENSP00000287538:A62V	A	+	2	0	ZIC3	136476701	0.147000	0.22687	0.513000	0.27749	0.685000	0.39939	1.053000	0.30442	2.062000	0.61559	0.597000	0.82753	GCG	ZIC3	-	NULL	ENSG00000156925		0.687	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC3	HGNC	protein_coding	OTTHUMT00000058526.1	20	0.00	0	C			136649035	136649035	+1	no_errors	ENST00000287538	ensembl	human	known	69_37n	missense	19	24.00	6	SNP	0.831	T
ZMYM2	7750	genome.wustl.edu	37	13	20580593	20580593	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr13:20580593A>G	ENST00000382874.2	+	7	1569	c.1379A>G	c.(1378-1380)aAt>aGt	p.N460S	ZMYM2_ENST00000382871.2_Missense_Mutation_p.N460S|ZMYM2_ENST00000382883.3_Intron|ZMYM2_ENST00000382881.3_Missense_Mutation_p.N373S|ZMYM2_ENST00000382869.3_Missense_Mutation_p.N460S	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AGAATGGCCAATGGTTTAATA	0.353																																						dbGAP											0													90.0	86.0	87.0					13																	20580593		1868	4118	5986	-	-	-	SO:0001583	missense	0			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.1379A>G	13.37:g.20580593A>G	ENSP00000372327:p.Asn460Ser		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.N460S	ENST00000382874.2	37	c.1379	CCDS45016.1	13	.	.	.	.	.	.	.	.	.	.	A	22.4	4.286785	0.80803	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382881;ENST00000382874;ENST00000382871	T;T;T;T	0.20598	2.06;2.14;2.06;2.06	4.98	4.98	0.66077	TRASH (1);Zinc finger, MYM-type (1);	0.000000	0.85682	D	0.000000	T	0.48677	0.1513	M	0.82323	2.585	0.80722	D	1	P;D	0.89917	0.794;1.0	P;D	0.71656	0.702;0.974	T	0.52815	-0.8525	10	0.46703	T	0.11	3.0842	14.9986	0.71451	1.0:0.0:0.0:0.0	.	460;373	Q9UBW7;Q9UBW7-2	ZMYM2_HUMAN;.	S	460;460;373;460;460	ENSP00000372322:N460S;ENSP00000372334:N373S;ENSP00000372327:N460S;ENSP00000372324:N460S	ENSP00000372322:N460S	N	+	2	0	ZMYM2	19478593	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.901000	0.92560	1.997000	0.58415	0.533000	0.62120	AAT	ZMYM2	-	pfam_Znf_MYM,smart_TRASH	ENSG00000121741		0.353	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044051.2	169	0.00	0	A	NM_003453		20580593	20580593	+1	no_errors	ENST00000382869	ensembl	human	known	69_37n	missense	33	13.16	5	SNP	1.000	G
ZMYM6	9204	genome.wustl.edu	37	1	35477589	35477589	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:35477589G>T	ENST00000357182.4	-	8	1191	c.964C>A	c.(964-966)Cat>Aat	p.H322N	ZMYM6_ENST00000487874.1_Missense_Mutation_p.H322N|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.H322N	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	322					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTACAACTATGACATGAAACC	0.363																																						dbGAP											0													128.0	117.0	120.0					1																	35477589		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.964C>A	1.37:g.35477589G>T	ENSP00000349708:p.His322Asn		B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH	p.H322N	ENST00000357182.4	37	c.964	CCDS387.2	1	.	.	.	.	.	.	.	.	.	.	G	5.129	0.209401	0.09757	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	T;T	0.22134	1.97;3.15	5.13	4.15	0.48705	TRASH (1);	0.109599	0.64402	D	0.000012	T	0.06962	0.0177	N	0.01751	-0.74	0.31428	N	0.673455	B;B;B	0.15473	0.002;0.013;0.0	B;B;B	0.15870	0.003;0.014;0.003	T	0.16100	-1.0414	10	0.07482	T	0.82	-18.2343	11.2986	0.49292	0.0:0.0:0.6593:0.3407	.	225;322;322	B4DWC0;O95789;O95789-1	.;ZMYM6_HUMAN;.	N	322	ENSP00000362437:H322N;ENSP00000349708:H322N	ENSP00000349708:H322N	H	-	1	0	ZMYM6	35250176	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.571000	0.36450	2.827000	0.97445	0.650000	0.86243	CAT	ZMYM6	-	smart_TRASH	ENSG00000163867		0.363	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM6	HGNC	protein_coding	OTTHUMT00000011999.1	233	0.00	0	G	NM_007167		35477589	35477589	-1	no_errors	ENST00000357182	ensembl	human	known	69_37n	missense	76	13.64	12	SNP	1.000	T
ZMYM4	9202	genome.wustl.edu	37	1	35851068	35851068	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:35851068C>T	ENST00000314607.6	+	10	1675	c.1595C>T	c.(1594-1596)gCg>gTg	p.A532V	ZMYM4_ENST00000373297.2_Intron	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	532					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACACCGTGTGCGCTTTGCAAA	0.328																																						dbGAP											0													87.0	90.0	89.0					1																	35851068		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1595C>T	1.37:g.35851068C>T	ENSP00000322915:p.Ala532Val		A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	pfam_DUF3504,pfam_Znf_MYM,smart_TRASH	p.A532V	ENST00000314607.6	37	c.1595	CCDS389.1	1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636143	0.47049	.	.	ENSG00000146463	ENST00000314607	T	0.25414	1.8	5.17	5.17	0.71159	TRASH (1);	0.322089	0.33005	N	0.005397	T	0.26340	0.0643	L	0.43152	1.355	0.80722	D	1	B	0.18968	0.032	B	0.17098	0.017	T	0.02852	-1.1102	10	0.31617	T	0.26	-1.6271	19.0377	0.92986	0.0:1.0:0.0:0.0	.	532	Q5VZL5	ZMYM4_HUMAN	V	532	ENSP00000322915:A532V	ENSP00000322915:A532V	A	+	2	0	ZMYM4	35623655	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.164000	0.58190	2.567000	0.86603	0.591000	0.81541	GCG	ZMYM4	-	smart_TRASH	ENSG00000146463		0.328	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM4	HGNC	protein_coding	OTTHUMT00000012207.3	64	0.00	0	C	NM_005095		35851068	35851068	+1	no_errors	ENST00000314607	ensembl	human	known	69_37n	missense	25	30.56	11	SNP	1.000	T
ZNF143	7702	genome.wustl.edu	37	11	9547007	9547007	+	Intron	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr11:9547007C>T	ENST00000396602.2	+	15	1952				ZNF143_ENST00000299606.2_Intron|ZNF143_ENST00000396597.3_Intron|ZNF143_ENST00000530463.1_Intron|ZNF143_ENST00000396604.1_Intron	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143						gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		CACTGTGCTTCGTGTATAACC	0.453																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.1833+74C>T	11.37:g.9547007C>T			A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Silent	SNP	NULL	p.F161	ENST00000396602.2	37	c.483	CCDS7799.2	11																																																																																			ZNF143	-	NULL	ENSG00000166478		0.453	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF143	HGNC	protein_coding	OTTHUMT00000313921.2	143	0.00	0	C	NM_003442		9547007	9547007	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000447186	ensembl	human	putative	69_37n	silent	65	24.42	21	SNP	0.000	T
ZNF181	339318	genome.wustl.edu	37	19	35232519	35232519	+	Silent	SNP	G	G	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:35232519G>C	ENST00000492450.1	+	4	1322	c.1233G>C	c.(1231-1233)ctG>ctC	p.L411L	ZNF181_ENST00000459757.2_Silent_p.L410L|ZNF181_ENST00000392232.3_Silent_p.L455L			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	411					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(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			ACAAATGTCTGAAAGTCTTTA	0.383																																						dbGAP											0													44.0	43.0	43.0					19																	35232519		2194	4286	6480	-	-	-	SO:0001819	synonymous_variant	0			BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.1233G>C	19.37:g.35232519G>C			B7ZKX3|Q49A75	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L411	ENST00000492450.1	37	c.1233	CCDS32990.2	19																																																																																			ZNF181	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197841		0.383	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ZNF181	HGNC	protein_coding	OTTHUMT00000349005.3	89	0.00	0	G	NM_001029997		35232519	35232519	+1	no_errors	ENST00000492450	ensembl	human	known	69_37n	silent	46	14.81	8	SNP	1.000	C
ZNF181	339318	genome.wustl.edu	37	19	35232522	35232522	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:35232522A>G	ENST00000492450.1	+	4	1325	c.1236A>G	c.(1234-1236)aaA>aaG	p.K412K	ZNF181_ENST00000459757.2_Silent_p.K411K|ZNF181_ENST00000392232.3_Silent_p.K456K			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	412					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(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AATGTCTGAAAGTCTTTAGTA	0.388																																						dbGAP											0													43.0	42.0	42.0					19																	35232522		2193	4285	6478	-	-	-	SO:0001819	synonymous_variant	0			BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.1236A>G	19.37:g.35232522A>G			B7ZKX3|Q49A75	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K412	ENST00000492450.1	37	c.1236	CCDS32990.2	19																																																																																			ZNF181	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197841		0.388	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ZNF181	HGNC	protein_coding	OTTHUMT00000349005.3	87	0.00	0	A	NM_001029997		35232522	35232522	+1	no_errors	ENST00000492450	ensembl	human	known	69_37n	silent	42	16.00	8	SNP	0.861	G
ZNF232	7775	genome.wustl.edu	37	17	5009308	5009308	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:5009308T>C	ENST00000250076.3	-	5	1800	c.1146A>G	c.(1144-1146)tcA>tcG	p.S382S	ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Silent_p.S373S|ZNF232_ENST00000575538.1_5'Flank	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	355					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)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						GCTTCTCTCCTGAGTGAATCC	0.443																																						dbGAP											0													80.0	82.0	82.0					17																	5009308		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.1146A>G	17.37:g.5009308T>C				Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S382	ENST00000250076.3	37	c.1146	CCDS11068.1	17																																																																																			ZNF232	-	pfscan_Znf_C2H2	ENSG00000167840		0.443	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF232	HGNC	protein_coding	OTTHUMT00000216915.1	190	0.00	0	T	NM_014519		5009308	5009308	-1	no_errors	ENST00000250076	ensembl	human	known	69_37n	silent	189	14.48	32	SNP	1.000	C
ZNF235	9310	genome.wustl.edu	37	19	44792637	44792637	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:44792637delT	ENST00000291182.4	-	5	1053	c.951delA	c.(949-951)aaafs	p.K317fs	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	317					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)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				ACCAATAGCGTTTTTTCCCAG	0.448																																						dbGAP											0													124.0	116.0	119.0					19																	44792637		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.951delA	19.37:g.44792637delT	ENSP00000291182:p.Lys317fs		B4DTQ7|O14898|O14899|Q17RR8	Frame_Shift_Del	DEL	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.K317fs	ENST00000291182.4	37	c.951	CCDS33048.1	19																																																																																			ZNF235	-	NULL	ENSG00000159917		0.448	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF235	HGNC	protein_coding	OTTHUMT00000460732.1	159	0.00	0	T			44792637	44792637	-1	no_errors	ENST00000291182	ensembl	human	known	69_37n	frame_shift_del	24	17.24	5	DEL	1.000	-
ZNF248	57209	genome.wustl.edu	37	10	38121071	38121071	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:38121071T>C	ENST00000395867.3	-	6	1762	c.1212A>G	c.(1210-1212)ggA>ggG	p.G404G	ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Silent_p.G404G|AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	404					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						AGGGCTTCTCTCCTGTGTGTG	0.453																																						dbGAP											0													106.0	108.0	107.0					10																	38121071		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.1212A>G	10.37:g.38121071T>C			Q8NDV8|Q9UMP3	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.G404	ENST00000395867.3	37	c.1212	CCDS7194.1	10																																																																																			ZNF248	-	pfscan_Znf_C2H2	ENSG00000198105		0.453	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF248	HGNC	protein_coding	OTTHUMT00000047609.1	166	0.00	0	T	NM_021045		38121071	38121071	-1	no_errors	ENST00000357328	ensembl	human	known	69_37n	silent	35	14.63	6	SNP	0.967	C
ZNF248	57209	genome.wustl.edu	37	10	38121094	38121094	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:38121094G>C	ENST00000395867.3	-	6	1739	c.1189C>G	c.(1189-1191)Caa>Gaa	p.Q397E	ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.Q397E|AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CTCTGATGTTGAGTGAGGTTT	0.468																																						dbGAP											0													101.0	102.0	101.0					10																	38121094		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.1189C>G	10.37:g.38121094G>C	ENSP00000379208:p.Gln397Glu		Q8NDV8|Q9UMP3	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.Q397E	ENST00000395867.3	37	c.1189	CCDS7194.1	10	.	.	.	.	.	.	.	.	.	.	G	1.584	-0.530828	0.04112	.	.	ENSG00000198105	ENST00000395867;ENST00000357328	T;T	0.16324	2.35;2.35	4.6	3.62	0.41486	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000272	T	0.07683	0.0193	N	0.13140	0.3	0.09310	N	1	B	0.30634	0.288	B	0.26416	0.069	T	0.29336	-1.0015	10	0.02654	T	1	.	11.876	0.52548	0.0:0.0:0.8251:0.1749	.	397	Q8NDW4	ZN248_HUMAN	E	397	ENSP00000379208:Q397E;ENSP00000349882:Q397E	ENSP00000349882:Q397E	Q	-	1	0	ZNF248	38161100	0.000000	0.05858	0.996000	0.52242	0.979000	0.70002	-0.407000	0.07178	2.550000	0.86006	0.557000	0.71058	CAA	ZNF248	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198105		0.468	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF248	HGNC	protein_coding	OTTHUMT00000047609.1	152	0.00	0	G	NM_021045		38121094	38121094	-1	no_errors	ENST00000357328	ensembl	human	known	69_37n	missense	40	20.00	10	SNP	0.015	C
ZNF267	10308	genome.wustl.edu	37	16	31927702	31927702	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:31927702G>C	ENST00000300870.10	+	4	2341	c.2132G>C	c.(2131-2133)aGt>aCt	p.S711T		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	711					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AGAAGTCATAGTGGAGAGAGA	0.418																																						dbGAP											0													92.0	85.0	88.0					16																	31927702		2197	4300	6497	-	-	-	SO:0001583	missense	0			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.2132G>C	16.37:g.31927702G>C	ENSP00000300870:p.Ser711Thr		A0JNZ9|Q8NE41|Q9NRJ0	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.S711T	ENST00000300870.10	37	c.2132	CCDS32440.1	16	.	.	.	.	.	.	.	.	.	.	.	4.232	0.042047	0.08196	.	.	ENSG00000185947	ENST00000300870	T	0.12879	2.64	0.468	-0.879	0.10613	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04497	0.0123	N	0.05619	-0.005	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46596	-0.9180	9	0.02654	T	1	.	6.1233	0.20165	0.0:0.6235:0.3765:0.0	.	711	Q14586	ZN267_HUMAN	T	711	ENSP00000300870:S711T	ENSP00000300870:S711T	S	+	2	0	ZNF267	31835203	0.786000	0.28738	0.321000	0.25320	0.294000	0.27393	1.541000	0.36126	-0.445000	0.07159	-0.440000	0.05779	AGT	ZNF267	-	pfscan_Znf_C2H2	ENSG00000185947		0.418	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF267	HGNC	protein_coding	OTTHUMT00000432446.2	161	0.62	1	G	NM_003414		31927702	31927702	+1	no_errors	ENST00000300870	ensembl	human	known	69_37n	missense	53	13.11	8	SNP	0.998	C
ZNF281	23528	genome.wustl.edu	37	1	200378119	200378119	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:200378119C>T	ENST00000294740.3	-	2	839	c.715G>A	c.(715-717)Gca>Aca	p.A239T	ZNF281_ENST00000367352.3_Missense_Mutation_p.A203T|ZNF281_ENST00000367353.1_Missense_Mutation_p.A239T	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	239					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TTGGAAGATGCACTTGGCTTC	0.488																																						dbGAP											0													175.0	159.0	165.0					1																	200378119		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.715G>A	1.37:g.200378119C>T	ENSP00000294740:p.Ala239Thr		A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A239T	ENST00000294740.3	37	c.715	CCDS1402.1	1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380981	0.24944	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352	T;T;T	0.12147	2.71;2.71;2.71	5.64	5.64	0.86602	.	0.065397	0.64402	D	0.000011	T	0.19685	0.0473	L	0.36672	1.1	0.35057	D	0.761192	D;D	0.61697	0.99;0.97	P;P	0.54346	0.749;0.749	T	0.04650	-1.0936	10	0.08599	T	0.76	-0.8015	17.8955	0.88886	0.0:1.0:0.0:0.0	.	203;239	A6NF48;Q9Y2X9	.;ZN281_HUMAN	T	239;239;203	ENSP00000294740:A239T;ENSP00000356322:A239T;ENSP00000356321:A203T	ENSP00000294740:A239T	A	-	1	0	ZNF281	198644742	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	1.511000	0.35801	2.644000	0.89710	0.655000	0.94253	GCA	ZNF281	-	NULL	ENSG00000162702		0.488	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF281	HGNC	protein_coding	OTTHUMT00000086879.2	222	0.00	0	C	NM_012482		200378119	200378119	-1	no_errors	ENST00000294740	ensembl	human	known	69_37n	missense	412	16.53	82	SNP	1.000	T
ZNF333	84449	genome.wustl.edu	37	19	14805938	14805938	+	Silent	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:14805938C>A	ENST00000292530.6	+	3	211	c.120C>A	c.(118-120)gcC>gcA	p.A40A	ZNF333_ENST00000601134.1_Silent_p.A40A|ZNF333_ENST00000540689.2_Silent_p.A40A|ZNF333_ENST00000601629.1_3'UTR|ZNF333_ENST00000536363.1_5'UTR	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	40	KRAB 1. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GGACCCTGGCCTCCAGGGGTA	0.582																																					NSCLC(60;75 1281 16985 25154 29885)	dbGAP											0													101.0	84.0	90.0					19																	14805938		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.120C>A	19.37:g.14805938C>A			Q6P2E6|Q86WS6|Q8TDL0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A40	ENST00000292530.6	37	c.120	CCDS12316.1	19																																																																																			ZNF333	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000160961		0.582	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF333	HGNC	protein_coding	OTTHUMT00000466496.1	198	0.00	0	C	NM_032433		14805938	14805938	+1	no_errors	ENST00000292530	ensembl	human	known	69_37n	silent	198	12.39	28	SNP	0.000	A
ZNF341	84905	genome.wustl.edu	37	20	32333047	32333047	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:32333047A>G	ENST00000375200.1	+	3	646	c.281A>G	c.(280-282)tAc>tGc	p.Y94C	ZNF341_ENST00000342427.2_Missense_Mutation_p.Y94C	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	94					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						AACAGCATCTACCCACCTTCG	0.562																																						dbGAP											0													51.0	53.0	53.0					20																	32333047		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.281A>G	20.37:g.32333047A>G	ENSP00000364346:p.Tyr94Cys		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y94C	ENST00000375200.1	37	c.281		20	.	.	.	.	.	.	.	.	.	.	A	20.8	4.042942	0.75732	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.10382	3.13;2.88	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.30293	0.0760	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.986;0.994	T	0.00899	-1.1522	10	0.41790	T	0.15	-34.5574	15.4099	0.74911	1.0:0.0:0.0:0.0	.	94;94	Q9BYN7;Q9BYN7-2	ZN341_HUMAN;.	C	94	ENSP00000344308:Y94C;ENSP00000364346:Y94C	ENSP00000344308:Y94C	Y	+	2	0	ZNF341	31796708	1.000000	0.71417	0.998000	0.56505	0.627000	0.37826	8.656000	0.91102	2.131000	0.65755	0.460000	0.39030	TAC	ZNF341	-	NULL	ENSG00000131061		0.562	ZNF341-201	KNOWN	basic	protein_coding	ZNF341	HGNC	protein_coding		139	0.00	0	A			32333047	32333047	+1	no_errors	ENST00000375200	ensembl	human	known	69_37n	missense	152	16.48	30	SNP	1.000	G
ZNF335	63925	genome.wustl.edu	37	20	44580825	44580825	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:44580825G>A	ENST00000322927.2	-	20	3250	c.3150C>T	c.(3148-3150)ccC>ccT	p.P1050P	ZNF335_ENST00000426788.1_Silent_p.P895P	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1050					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				AGGGGCAGTCGGGGCACTTGA	0.602																																						dbGAP											0													19.0	23.0	21.0					20																	44580825		2202	4292	6494	-	-	-	SO:0001819	synonymous_variant	0			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.3150C>T	20.37:g.44580825G>A			B4DLG7|Q548D0|Q9H684	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1050	ENST00000322927.2	37	c.3150	CCDS13389.1	20																																																																																			ZNF335	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198026		0.602	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	HGNC	protein_coding	OTTHUMT00000079553.1	12	0.00	0	G	NM_022095		44580825	44580825	-1	no_errors	ENST00000322927	ensembl	human	known	69_37n	silent	28	20.00	7	SNP	0.001	A
ZNF37A	7587	genome.wustl.edu	37	10	38406330	38406330	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:38406330delC	ENST00000361085.5	+	7	596	c.251delC	c.(250-252)accfs	p.T84fs	ZNF37A_ENST00000351773.3_Frame_Shift_Del_p.T84fs	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	84					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)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TTAATTAATACCAGTAGAAAC	0.308																																						dbGAP											0													46.0	55.0	52.0					10																	38406330		2198	4281	6479	-	-	-	SO:0001589	frameshift_variant	0			X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.251delC	10.37:g.38406330delC	ENSP00000354377:p.Thr84fs		B3KRQ3|D3DRZ3|Q96B88	Frame_Shift_Del	DEL	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.S85fs	ENST00000361085.5	37	c.251	CCDS31183.1	10																																																																																			ZNF37A	-	NULL	ENSG00000075407		0.308	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF37A	HGNC	protein_coding	OTTHUMT00000047624.2	37	0.00	0	C	NM_003421		38406330	38406330	+1	no_errors	ENST00000351773	ensembl	human	known	69_37n	frame_shift_del	5	28.57	2	DEL	0.042	-
ZNF41	7592	genome.wustl.edu	37	X	47306831	47306831	+	Nonstop_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chrX:47306831A>G	ENST00000377065.4	-	5	2977	c.2338T>C	c.(2338-2340)Tga>Cga	p.*780R	ZNF41_ENST00000313116.7_Nonstop_Mutation_p.*780R|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Nonstop_Mutation_p.*790R	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	0					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(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				AGACTTTCTCAGTCACTGGCT	0.428																																						dbGAP											0													105.0	97.0	100.0					X																	47306831		2203	4300	6503	-	-	-	SO:0001578	stop_lost	0			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.2338T>C	X.37:g.47306831A>G	ENSP00000366265:p.*780Glyext*16		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Nonstop_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.*790R	ENST00000377065.4	37	c.2368	CCDS14279.1	X	.	.	.	.	.	.	.	.	.	.	A	14.41	2.527842	0.44969	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	.	.	.	3.58	2.38	0.29361	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2197	0.20675	0.7436:0.2564:0.0:0.0	.	.	.	.	R	780;780;790	.	.	X	-	1	0	ZNF41	47191775	0.004000	0.15560	0.029000	0.17559	0.798000	0.45092	0.484000	0.22308	0.561000	0.29186	0.486000	0.48141	TGA	ZNF41	-	NULL	ENSG00000147124		0.428	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF41	HGNC	protein_coding	OTTHUMT00000056429.1	85	0.00	0	A	NM_153380		47306831	47306831	-1	no_errors	ENST00000397050	ensembl	human	known	69_37n	nonstop	51	20.31	13	SNP	0.552	G
ZNF438	220929	genome.wustl.edu	37	10	31139119	31139119	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:31139119A>G	ENST00000361310.3	-	6	544	c.215T>C	c.(214-216)cTg>cCg	p.L72P	ZNF438_ENST00000331737.6_Missense_Mutation_p.L62P|ZNF438_ENST00000436087.2_Missense_Mutation_p.L72P|ZNF438_ENST00000538351.2_Missense_Mutation_p.L23P|ZNF438_ENST00000444692.2_Missense_Mutation_p.L62P|ZNF438_ENST00000442986.1_Missense_Mutation_p.L72P|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000413025.1_Missense_Mutation_p.L72P|ZNF438_ENST00000452305.1_Missense_Mutation_p.L62P			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	72					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CATCCCCAGCAGCTTGGAGTT	0.532																																						dbGAP											0													142.0	136.0	138.0					10																	31139119		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.215T>C	10.37:g.31139119A>G	ENSP00000354663:p.Leu72Pro		A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L72P	ENST00000361310.3	37	c.215	CCDS7168.1	10	.	.	.	.	.	.	.	.	.	.	G	1.088	-0.664976	0.03428	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351	T;T;T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34	5.63	5.63	0.86233	.	0.148533	0.64402	N	0.000007	T	0.14098	0.0341	N	0.00092	-2.175	0.37303	D	0.90876	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42050	-0.9474	10	0.02654	T	1	-2.8705	13.9055	0.63834	0.0733:0.0:0.9267:0.0	.	72;62	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	P	62;72;72;72;72;62;62;23	ENSP00000333571:L62P;ENSP00000354663:L72P;ENSP00000406934:L72P;ENSP00000412363:L72P;ENSP00000387546:L72P;ENSP00000413060:L62P;ENSP00000410898:L62P;ENSP00000445461:L23P	ENSP00000333571:L62P	L	-	2	0	ZNF438	31179125	1.000000	0.71417	0.006000	0.13384	0.054000	0.15201	7.266000	0.78452	1.398000	0.46701	-0.119000	0.15052	CTG	ZNF438	-	NULL	ENSG00000183621		0.532	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF438	HGNC	protein_coding	OTTHUMT00000277006.1	193	0.00	0	A	NM_182755		31139119	31139119	-1	no_errors	ENST00000361310	ensembl	human	known	69_37n	missense	182	14.42	31	SNP	0.995	G
ZNF479	90827	genome.wustl.edu	37	7	57188176	57188177	+	Frame_Shift_Ins	INS	-	-	A	rs201085269	byFrequency	TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:57188176_57188177insA	ENST00000331162.4	-	5	1215_1216	c.945_946insT	c.(943-948)cacaagfs	p.K316fs		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	316					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGAATTCTCTTGTGGTCAGTGA	0.441																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.945_946insT	7.37:g.57188176_57188177insA	ENSP00000333776:p.Lys316fs			Frame_Shift_Ins	INS	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.K315fs	ENST00000331162.4	37	c.946_945	CCDS43590.1	7																																																																																			ZNF479	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000185177		0.441	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1	66	0.00	0	-	XM_291202		57188176	57188177	-1	no_errors	ENST00000331162	ensembl	human	known	69_37n	frame_shift_ins	12	14.29	2	INS	0.010:0.055	A
ZNF485	220992	genome.wustl.edu	37	10	44112691	44112691	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:44112691T>C	ENST00000361807.3	+	5	1394	c.1200T>C	c.(1198-1200)caT>caC	p.H400H	ZNF485_ENST00000374437.2_Silent_p.H309H|ZNF485_ENST00000374435.3_Silent_p.H400H	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	400					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TTGTTGAACATCAGAGACTCC	0.408																																						dbGAP											0													50.0	51.0	50.0					10																	44112691		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.1200T>C	10.37:g.44112691T>C			B4DSE6|Q96CL0	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.H400	ENST00000361807.3	37	c.1200	CCDS7205.2	10																																																																																			ZNF485	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198298		0.408	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF485	HGNC	protein_coding	OTTHUMT00000047719.2	38	0.00	0	T	NM_145312		44112691	44112691	+1	no_errors	ENST00000361807	ensembl	human	known	69_37n	silent	66	17.28	14	SNP	0.992	C
ZNF486	90649	genome.wustl.edu	37	19	20308650	20308650	+	Silent	SNP	A	A	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:20308650A>T	ENST00000335117.8	+	4	1188	c.1131A>T	c.(1129-1131)ccA>ccT	p.P377P	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	377					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						GAGAGAAACCATACAAATGTG	0.423																																						dbGAP											0													39.0	42.0	41.0					19																	20308650		2177	4284	6461	-	-	-	SO:0001819	synonymous_variant	0			BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.1131A>T	19.37:g.20308650A>T			Q0VG00	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.P377	ENST00000335117.8	37	c.1131	CCDS46029.1	19																																																																																			ZNF486	-	pfscan_Znf_C2H2	ENSG00000256229		0.423	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF486	HGNC	protein_coding	OTTHUMT00000447843.2	27	0.00	0	A	NM_052852		20308650	20308650	+1	no_errors	ENST00000335117	ensembl	human	known	69_37n	silent	19	17.39	4	SNP	0.883	T
ZNF512B	57473	genome.wustl.edu	37	20	62592727	62592727	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr20:62592727G>A	ENST00000450537.1	-	16	2422	c.2362C>T	c.(2362-2364)Ctg>Ttg	p.L788L	ZNF512B_ENST00000217130.3_Silent_p.L788L|ZNF512B_ENST00000369888.1_Silent_p.L788L			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	788					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTCGGACACAGCAGACAGCGG	0.622																																						dbGAP											0													107.0	94.0	98.0					20																	62592727		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.2362C>T	20.37:g.62592727G>A			Q08AK9|Q9ULM4	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L788	ENST00000450537.1	37	c.2362	CCDS13548.1	20																																																																																			ZNF512B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196700		0.622	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF512B	HGNC	protein_coding	OTTHUMT00000080246.1	114	0.00	0	G	NM_020713		62592727	62592727	-1	no_errors	ENST00000217130	ensembl	human	known	69_37n	silent	216	18.66	50	SNP	1.000	A
ZNF536	9745	genome.wustl.edu	37	19	30934485	30934485	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:30934485C>A	ENST00000355537.3	+	2	163	c.16C>A	c.(16-18)Ctg>Atg	p.L6M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	6					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGAAGCGAGCCTGTGCCTTGG	0.597																																						dbGAP											0													94.0	98.0	97.0					19																	30934485		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.16C>A	19.37:g.30934485C>A	ENSP00000347730:p.Leu6Met		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L6M	ENST00000355537.3	37	c.16	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099453	0.56183	.	.	ENSG00000198597	ENST00000355537	T	0.19105	2.17	5.46	4.37	0.52481	.	0.000000	0.64402	D	0.000001	T	0.28499	0.0705	L	0.32530	0.975	0.46901	D	0.999246	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.08953	-1.0697	10	0.87932	D	0	-17.1402	3.5303	0.07774	0.0:0.6419:0.0:0.3581	.	6;6	A7E228;O15090	.;ZN536_HUMAN	M	6	ENSP00000347730:L6M	ENSP00000347730:L6M	L	+	1	2	ZNF536	35626325	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	5.867000	0.69597	2.579000	0.87056	0.462000	0.41574	CTG	ZNF536	-	NULL	ENSG00000198597		0.597	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	53	0.00	0	C	NM_014717		30934485	30934485	+1	no_errors	ENST00000355537	ensembl	human	known	69_37n	missense	67	11.69	9	SNP	1.000	A
ZNF567	163081	genome.wustl.edu	37	19	37211028	37211028	+	Missense_Mutation	SNP	C	C	G	rs561071751		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:37211028C>G	ENST00000536254.2	+	6	1624	c.1402C>G	c.(1402-1404)Cag>Gag	p.Q468E	ZNF567_ENST00000392163.2_Missense_Mutation_p.Q437E|ZNF567_ENST00000588311.1_Missense_Mutation_p.Q437E|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000585696.1_Missense_Mutation_p.Q437E|ZNF567_ENST00000360729.4_Missense_Mutation_p.Q437E			Q8N184	ZN567_HUMAN	zinc finger protein 567	468					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(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TGTAGCACATCAGAGAACACA	0.433																																						dbGAP											0													84.0	86.0	85.0					19																	37211028		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1402C>G	19.37:g.37211028C>G	ENSP00000441838:p.Gln468Glu		B3KX49|Q6N044	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.Q468E	ENST00000536254.2	37	c.1402		19	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810080	0.32053	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.35605	1.3;1.3;1.3	4.88	3.85	0.44370	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.166731	0.28908	N	0.013750	T	0.23410	0.0566	N	0.11892	0.195	0.80722	D	1	P;P	0.43314	0.793;0.803	B;P	0.46208	0.177;0.507	T	0.01371	-1.1372	10	0.54805	T	0.06	.	5.6584	0.17654	0.1962:0.7063:0.0:0.0975	.	468;437	Q8N184;F8WEL6	ZN567_HUMAN;.	E	468;412;437;467;437	ENSP00000441838:Q468E;ENSP00000353957:Q437E;ENSP00000376003:Q437E	ENSP00000353957:Q437E	Q	+	1	0	ZNF567	41902868	0.004000	0.15560	1.000000	0.80357	0.956000	0.61745	0.288000	0.18939	2.694000	0.91930	0.561000	0.74099	CAG	ZNF567	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189042		0.433	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	ZNF567	HGNC	protein_coding	OTTHUMT00000453549.1	107	0.00	0	C	NM_152603		37211028	37211028	+1	no_errors	ENST00000536254	ensembl	human	known	69_37n	missense	25	26.47	9	SNP	1.000	G
ZNF567	163081	genome.wustl.edu	37	19	37211190	37211190	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:37211190C>G	ENST00000536254.2	+	6	1786	c.1564C>G	c.(1564-1566)Cta>Gta	p.L522V	ZNF567_ENST00000392163.2_Missense_Mutation_p.L491V|ZNF567_ENST00000588311.1_Missense_Mutation_p.L491V|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000585696.1_Missense_Mutation_p.L491V|ZNF567_ENST00000360729.4_Missense_Mutation_p.L491V			Q8N184	ZN567_HUMAN	zinc finger protein 567	522					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(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAATCTCAATCTACATCAGAG	0.388																																						dbGAP											0													52.0	53.0	53.0					19																	37211190		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1564C>G	19.37:g.37211190C>G	ENSP00000441838:p.Leu522Val		B3KX49|Q6N044	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.L522V	ENST00000536254.2	37	c.1564		19	.	.	.	.	.	.	.	.	.	.	C	4.209	0.037563	0.08148	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.17370	2.28;2.28;2.28	4.98	-0.85	0.10720	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.253832	0.20821	N	0.085070	T	0.13372	0.0324	N	0.05050	-0.12	0.09310	N	1	P;D	0.61697	0.939;0.99	P;D	0.72982	0.795;0.979	T	0.24657	-1.0154	10	0.20519	T	0.43	.	5.1474	0.14993	0.138:0.5388:0.0:0.3231	.	522;491	Q8N184;F8WEL6	ZN567_HUMAN;.	V	522;466;491;521;491	ENSP00000441838:L522V;ENSP00000353957:L491V;ENSP00000376003:L491V	ENSP00000353957:L491V	L	+	1	2	ZNF567	41903030	0.000000	0.05858	0.042000	0.18584	0.955000	0.61496	-2.549000	0.00930	0.091000	0.17302	0.561000	0.74099	CTA	ZNF567	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189042		0.388	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	ZNF567	HGNC	protein_coding	OTTHUMT00000453549.1	92	0.00	0	C	NM_152603		37211190	37211190	+1	no_errors	ENST00000536254	ensembl	human	known	69_37n	missense	24	17.24	5	SNP	0.000	G
ZNF540	163255	genome.wustl.edu	37	19	38103537	38103537	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:38103537A>G	ENST00000592533.1	+	5	1688	c.1356A>G	c.(1354-1356)tcA>tcG	p.S452S	ZNF540_ENST00000589117.1_Silent_p.S420S|ZNF540_ENST00000316433.4_Silent_p.S452S|ZNF540_ENST00000343599.5_Silent_p.S452S	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	452					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGCTTCGTTCAGTCCTTACTG	0.403																																						dbGAP											0													83.0	80.0	81.0					19																	38103537		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1356A>G	19.37:g.38103537A>G			A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	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.S452	ENST00000592533.1	37	c.1356	CCDS12506.1	19																																																																																			ZNF540	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171817		0.403	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF540	HGNC	protein_coding	OTTHUMT00000459481.1	154	0.00	0	A	NM_152606		38103537	38103537	+1	no_errors	ENST00000316433	ensembl	human	known	69_37n	silent	60	10.45	7	SNP	0.000	G
ZNF575	284346	genome.wustl.edu	37	19	44039689	44039689	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:44039689C>T	ENST00000314228.5	+	4	1100	c.588C>T	c.(586-588)cgC>cgT	p.R196R	ZNF575_ENST00000601282.1_Silent_p.R196R|ZNF575_ENST00000458714.2_Silent_p.R295R	NM_174945.2	NP_777605.1	Q86XF7	ZN575_HUMAN	zinc finger protein 575	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4		Prostate(69;0.0199)				CCGCCCATCGCCTATGTCACG	0.692																																						dbGAP											0													36.0	40.0	39.0					19																	44039689		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			BC043611	CCDS12623.1	19q13.31	2013-09-20			ENSG00000176472	ENSG00000176472		"""Zinc fingers, C2H2-type"""	27606	protein-coding gene	gene with protein product							Standard	NM_174945		Approved	FLJ32567	uc002ows.3	Q86XF7	OTTHUMG00000182698	ENST00000314228.5:c.588C>T	19.37:g.44039689C>T			B4DX54	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R295	ENST00000314228.5	37	c.885	CCDS12623.1	19																																																																																			ZNF575	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000176472		0.692	ZNF575-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF575	HGNC	protein_coding	OTTHUMT00000463191.1	64	0.00	0	C	NM_174945		44039689	44039689	+1	no_errors	ENST00000458714	ensembl	human	known	69_37n	silent	114	15.56	21	SNP	0.883	T
ZNF615	284370	genome.wustl.edu	37	19	52496873	52496874	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:52496873_52496874delAT	ENST00000602063.1	-	6	1804_1805	c.1455_1456delAT	c.(1453-1458)atatgcfs	p.IC485fs	ZNF615_ENST00000391795.3_Frame_Shift_Del_p.IC490fs|ZNF615_ENST00000376716.5_Frame_Shift_Del_p.IC485fs|ZNF615_ENST00000598071.1_Frame_Shift_Del_p.IC496fs|ZNF615_ENST00000594083.1_Frame_Shift_Del_p.IC496fs			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	485					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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CAATCATTGCATATATATGGCT	0.436																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1455_1456delAT	19.37:g.52496879_52496880delAT	ENSP00000473089:p.Ile485fs		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Frame_Shift_Del	DEL	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.I490fs	ENST00000602063.1	37	c.1471_1470	CCDS12846.1	19																																																																																			ZNF615	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197619		0.436	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF615	HGNC	protein_coding	OTTHUMT00000462391.1	409	0.00	0	AT	NM_198480		52496873	52496874	-1	no_errors	ENST00000391795	ensembl	human	known	69_37n	frame_shift_del	141	16.28	28	DEL	0.917:0.027	-
ZNF626	199777	genome.wustl.edu	37	19	20807622	20807622	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:20807622G>T	ENST00000601440.1	-	4	1207	c.1061C>A	c.(1060-1062)tCt>tAt	p.S354Y	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AGTAAGGGTAGAGGAGTACTT	0.398																																						dbGAP											0													90.0	97.0	95.0					19																	20807622		2161	4282	6443	-	-	-	SO:0001583	missense	0			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1061C>A	19.37:g.20807622G>T	ENSP00000469958:p.Ser354Tyr		Q8N8T4|Q96QM1	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.S354Y	ENST00000601440.1	37	c.1061	CCDS42535.1	19	.	.	.	.	.	.	.	.	.	.	N	9.890	1.203969	0.22205	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	-1.5	0.08691	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.53578	0.1805	M	0.64630	1.985	0.09310	N	1	D	0.76494	0.999	D	0.72338	0.977	T	0.43327	-0.9398	8	0.87932	D	0	.	5.8733	0.18814	0.0:0.3295:0.6705:0.0	.	354	Q68DY1	ZN626_HUMAN	Y	354;278;354	.	ENSP00000445201:S354Y	S	-	2	0	ZNF626	20599462	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.611000	0.05622	0.284000	0.22305	0.289000	0.19496	TCT	ZNF626	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188171		0.398	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF626	HGNC	protein_coding	OTTHUMT00000447845.2	129	0.77	1	G	NM_145297		20807622	20807622	-1	no_errors	ENST00000305570	ensembl	human	known	69_37n	missense	52	13.33	8	SNP	0.000	T
ZNF628	89887	genome.wustl.edu	37	19	55995297	55995297	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:55995297G>A	ENST00000598519.1	+	3	3290	c.2737G>A	c.(2737-2739)Gag>Aag	p.E913K	ZNF628_ENST00000391718.2_Missense_Mutation_p.E909K|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000587400.1_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	913					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(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GGGGGATGGCGAGGCCAGCAC	0.667																																						dbGAP											0													30.0	25.0	27.0					19																	55995297		2198	4298	6496	-	-	-	SO:0001583	missense	0			AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.2737G>A	19.37:g.55995297G>A	ENSP00000469591:p.Glu913Lys		Q86X34	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E909K	ENST00000598519.1	37	c.2725	CCDS33116.3	19	.	.	.	.	.	.	.	.	.	.	.	12.71	2.018954	0.35606	.	.	ENSG00000197483	ENST00000391718	T	0.08193	3.12	3.81	3.81	0.43845	.	0.335587	0.21303	U	0.076761	T	0.05181	0.0138	N	0.19112	0.55	0.09310	N	0.999995	B	0.33857	0.429	B	0.19666	0.026	T	0.34625	-0.9821	10	0.51188	T	0.08	.	11.5649	0.50798	0.0:0.0:1.0:0.0	.	909	Q5EBL2	ZN628_HUMAN	K	909	ENSP00000375598:E909K	ENSP00000375598:E909K	E	+	1	0	ZNF628	60687109	0.939000	0.31865	0.650000	0.29550	0.386000	0.30323	1.769000	0.38522	1.850000	0.53721	0.289000	0.19496	GAG	ZNF628	-	NULL	ENSG00000197483		0.667	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF628	HGNC	protein_coding	OTTHUMT00000317934.2	54	0.00	0	G	XM_058964		55995297	55995297	+1	no_errors	ENST00000391718	ensembl	human	known	69_37n	missense	81	23.58	25	SNP	0.489	A
ZNF652	22834	genome.wustl.edu	37	17	47375977	47375977	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr17:47375977delG	ENST00000362063.2	-	6	1937	c.1619delC	c.(1618-1620)cctfs	p.P540fs	ZNF652_ENST00000430262.2_Frame_Shift_Del_p.P540fs	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	540	Mediates interaction with CBFA2T3.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			gatgggccgagggGGAAGAGT	0.597																																						dbGAP											0													60.0	64.0	63.0					17																	47375977		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.1619delC	17.37:g.47375977delG	ENSP00000354686:p.Pro540fs		A4QPD9|Q5H9Q0	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P540fs	ENST00000362063.2	37	c.1619	CCDS32677.1	17																																																																																			ZNF652	-	NULL	ENSG00000198740		0.597	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF652	HGNC	protein_coding	OTTHUMT00000364524.1	457	0.00	0	G	NM_014897		47375977	47375977	-1	no_errors	ENST00000362063	ensembl	human	known	69_37n	frame_shift_del	175	10.20	20	DEL	0.935	-
ZNF660	285349	genome.wustl.edu	37	3	44636312	44636312	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:44636312G>A	ENST00000322734.2	+	3	960	c.627G>A	c.(625-627)caG>caA	p.Q209Q	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	209					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TGGACCATCAGAGAATTCACA	0.378																																						dbGAP											0													79.0	86.0	84.0					3																	44636312		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"""Zinc fingers, C2H2-type"""	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.627G>A	3.37:g.44636312G>A			Q7Z331|Q8N9M8	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q209	ENST00000322734.2	37	c.627	CCDS2716.1	3																																																																																			ZNF660	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000144792		0.378	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF660	HGNC	protein_coding	OTTHUMT00000256756.4	112	0.00	0	G	NM_173658		44636312	44636312	+1	no_errors	ENST00000322734	ensembl	human	known	69_37n	silent	93	11.32	12	SNP	1.000	A
ZNF675	171392	genome.wustl.edu	37	19	23836448	23836448	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:23836448A>G	ENST00000359788.4	-	4	1455	c.1287T>C	c.(1285-1287)tgT>tgC	p.C429C	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	429					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAGCTTTGCCACATTCTTCAC	0.373																																						dbGAP											0													52.0	56.0	55.0					19																	23836448		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.1287T>C	19.37:g.23836448A>G			Q8N211	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.C429	ENST00000359788.4	37	c.1287	CCDS32981.1	19																																																																																			ZNF675	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197372		0.373	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF675	HGNC	protein_coding	OTTHUMT00000466433.1	44	0.00	0	A	NM_138330		23836448	23836448	-1	no_errors	ENST00000359788	ensembl	human	known	69_37n	silent	20	16.67	4	SNP	1.000	G
ZNF681	148213	genome.wustl.edu	37	19	23927314	23927314	+	Silent	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:23927314G>A	ENST00000402377.3	-	4	1179	c.1038C>T	c.(1036-1038)gcC>gcT	p.A346A	ZNF681_ENST00000395385.3_Silent_p.A277A	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	346					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)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACTGGTTAAAGGCTTTGCCAC	0.433																																						dbGAP											0													88.0	91.0	90.0					19																	23927314		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1038C>T	19.37:g.23927314G>A			B3KVF7	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.A346	ENST00000402377.3	37	c.1038	CCDS12414.2	19																																																																																			ZNF681	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196172		0.433	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	HGNC	protein_coding	OTTHUMT00000320248.2	128	0.00	0	G	NM_138286		23927314	23927314	-1	no_errors	ENST00000402377	ensembl	human	known	69_37n	silent	57	14.93	10	SNP	0.032	A
ZNF697	90874	genome.wustl.edu	37	1	120165810	120165810	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:120165810A>G	ENST00000421812.2	-	3	1275	c.1156T>C	c.(1156-1158)Tgc>Cgc	p.C386R		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	386					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		CGCTTGCCGCACTCGCCACAG	0.682																																						dbGAP											0													11.0	12.0	11.0					1																	120165810		2195	4283	6478	-	-	-	SO:0001583	missense	0			AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"""Zinc fingers, C2H2-type"""	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1156T>C	1.37:g.120165810A>G	ENSP00000396857:p.Cys386Arg		Q96IT2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C386R	ENST00000421812.2	37	c.1156	CCDS44202.1	1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.080302	0.36662	.	.	ENSG00000143067	ENST00000421812	D	0.85955	-2.05	4.77	4.77	0.60923	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94361	0.8187	H	0.98089	4.145	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.95869	0.8889	9	0.87932	D	0	.	12.5629	0.56293	1.0:0.0:0.0:0.0	.	386	Q5TEC3	ZN697_HUMAN	R	386	ENSP00000396857:C386R	ENSP00000396857:C386R	C	-	1	0	ZNF697	119967333	1.000000	0.71417	1.000000	0.80357	0.145000	0.21501	9.173000	0.94815	1.931000	0.55961	0.460000	0.39030	TGC	ZNF697	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000143067		0.682	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF697	HGNC	protein_coding	OTTHUMT00000036349.3	40	0.00	0	A	XM_371286		120165810	120165810	-1	no_errors	ENST00000421812	ensembl	human	known	69_37n	missense	54	12.70	8	SNP	1.000	G
ZNF71	58491	genome.wustl.edu	37	19	57133465	57133465	+	Silent	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:57133465C>T	ENST00000328070.6	+	3	1044	c.810C>T	c.(808-810)taC>taT	p.Y270Y		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	270					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(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		AGAAGCCGTACGTGTGCCCCG	0.677																																						dbGAP											0													51.0	54.0	53.0					19																	57133465		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.810C>T	19.37:g.57133465C>T			Q15919|Q9UC09|Q9UQD3	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y270	ENST00000328070.6	37	c.810	CCDS12947.1	19																																																																																			ZNF71	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197951		0.677	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF71	HGNC	protein_coding	OTTHUMT00000459798.2	130	0.00	0	C	NM_021216		57133465	57133465	+1	no_errors	ENST00000328070	ensembl	human	known	69_37n	silent	193	18.57	44	SNP	0.001	T
ZNF717	100131827	genome.wustl.edu	37	3	75787116	75787117	+	Frame_Shift_Ins	INS	-	-	GG	rs77490669	byFrequency	TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr3:75787116_75787117insGG	ENST00000478296.1	-	4	1783_1784	c.1507_1508insCC	c.(1507-1509)catfs	p.H503fs	ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000491507.1_Intron|MIR4273_ENST00000582824.1_RNA|ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.H546fs|ZNF717_ENST00000422325.1_Frame_Shift_Ins_p.H553fs			Q9BY31	ZN717_HUMAN	zinc finger protein 717	546					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)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						AGTTCTGTGATGTACTGTAAGG	0.401																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000478296.1:c.1507_1508insCC	3.37:g.75787116_75787117insGG	ENSP00000419377:p.His503fs			Frame_Shift_Ins	INS	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.H553fs	ENST00000478296.1	37	c.1658_1657		3																																																																																			ZNF717	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000227124		0.401	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	ZNF717	HGNC	protein_coding	OTTHUMT00000352764.2	16	0.00	0	-	NM_001128223		75787116	75787117	-1	no_errors	ENST00000422325	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	1.000:0.994	GG
ZNF727	442319	genome.wustl.edu	37	7	63538609	63538609	+	Silent	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:63538609A>G	ENST00000550760.3	+	4	1361	c.1182A>G	c.(1180-1182)aaA>aaG	p.K394K	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	394					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(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						CTGGAGAGAAACCCTACAAAT	0.373																																						dbGAP											0													24.0	23.0	23.0					7																	63538609		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0					7q11.21	2014-09-09	2014-09-09	2014-09-09	ENSG00000214652	ENSG00000214652		"""Zinc fingers, C2H2-type"", ""-"""	22785	pseudogene	pseudogene			"""zinc finger protein 727, pseudogene"""	ZNF727P			Standard	NM_001159522		Approved		uc011kdm.2	A8MUV8	OTTHUMG00000156536	ENST00000550760.3:c.1182A>G	7.37:g.63538609A>G				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.K394	ENST00000550760.3	37	c.1182	CCDS55113.1	7																																																																																			ZNF727	-	pfscan_Znf_C2H2	ENSG00000257482		0.373	ZNF727-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF727	HGNC	protein_coding		56	0.00	0	A	NM_001159522		63538609	63538609	+1	no_errors	ENST00000550760	ensembl	human	known	69_37n	silent	18	18.18	4	SNP	0.998	G
ZNF727	442319	genome.wustl.edu	37	7	63538638	63538638	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:63538638G>C	ENST00000550760.3	+	4	1390	c.1211G>C	c.(1210-1212)aGc>aCc	p.S404T	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	404					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(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						TGTGGCAAAAGCTTTACCTGC	0.388																																						dbGAP											0													27.0	26.0	26.0					7																	63538638		692	1591	2283	-	-	-	SO:0001583	missense	0					7q11.21	2014-09-09	2014-09-09	2014-09-09	ENSG00000214652	ENSG00000214652		"""Zinc fingers, C2H2-type"", ""-"""	22785	pseudogene	pseudogene			"""zinc finger protein 727, pseudogene"""	ZNF727P			Standard	NM_001159522		Approved		uc011kdm.2	A8MUV8	OTTHUMG00000156536	ENST00000550760.3:c.1211G>C	7.37:g.63538638G>C	ENSP00000447987:p.Ser404Thr			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.S404T	ENST00000550760.3	37	c.1211	CCDS55113.1	7	.	.	.	.	.	.	.	.	.	.	G	3.801	-0.041725	0.07452	.	.	ENSG00000257482	ENST00000550760	T	0.41400	1.0	0.926	-1.85	0.07784	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24547	0.0595	N	0.26162	0.8	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.19484	-1.0304	8	.	.	.	.	6.7928	0.23709	0.0:0.4348:0.5652:0.0	.	404	A8MUV8	ZN727_HUMAN	T	404	ENSP00000447987:S404T	.	S	+	2	0	ZNF727	63176073	0.000000	0.05858	0.112000	0.21494	0.102000	0.19082	-0.882000	0.04174	-1.360000	0.02172	-1.378000	0.01179	AGC	ZNF727	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000257482		0.388	ZNF727-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF727	HGNC	protein_coding		56	0.00	0	G	NM_001159522		63538638	63538638	+1	no_errors	ENST00000550760	ensembl	human	known	69_37n	missense	21	22.22	6	SNP	0.911	C
ZNF727	442319	genome.wustl.edu	37	7	63538656	63538656	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr7:63538656A>G	ENST00000550760.3	+	4	1408	c.1229A>G	c.(1228-1230)aAc>aGc	p.N410S	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	410					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(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						TGCTCCTCAAACCTTATTAAA	0.383																																						dbGAP											0													29.0	27.0	27.0					7																	63538656		692	1591	2283	-	-	-	SO:0001583	missense	0					7q11.21	2014-09-09	2014-09-09	2014-09-09	ENSG00000214652	ENSG00000214652		"""Zinc fingers, C2H2-type"", ""-"""	22785	pseudogene	pseudogene			"""zinc finger protein 727, pseudogene"""	ZNF727P			Standard	NM_001159522		Approved		uc011kdm.2	A8MUV8	OTTHUMG00000156536	ENST00000550760.3:c.1229A>G	7.37:g.63538656A>G	ENSP00000447987:p.Asn410Ser			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.N410S	ENST00000550760.3	37	c.1229	CCDS55113.1	7	.	.	.	.	.	.	.	.	.	.	A	0.480	-0.880110	0.02530	.	.	ENSG00000257482	ENST00000550760	T	0.41400	1.0	0.926	-1.85	0.07784	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13586	0.0329	N	0.02960	-0.455	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19353	-1.0308	8	.	.	.	.	1.5277	0.02529	0.4416:0.0:0.2522:0.3062	.	410	A8MUV8	ZN727_HUMAN	S	410	ENSP00000447987:N410S	.	N	+	2	0	ZNF727	63176091	0.000000	0.05858	0.012000	0.15200	0.010000	0.07245	-1.550000	0.02180	-0.881000	0.03992	-0.981000	0.02577	AAC	ZNF727	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000257482		0.383	ZNF727-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF727	HGNC	protein_coding		58	0.00	0	A	NM_001159522		63538656	63538656	+1	no_errors	ENST00000550760	ensembl	human	known	69_37n	missense	20	22.22	6	SNP	0.001	G
ZNF75A	7627	genome.wustl.edu	37	16	3367335	3367335	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:3367335G>A	ENST00000574298.1	+	6	830	c.357G>A	c.(355-357)atG>atA	p.M119I	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.M119I(1)		breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						ATTTTGATATGCACAGAGTGG	0.388																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											66.0	64.0	65.0					16																	3367335		2197	4300	6497	-	-	-	SO:0001583	missense	0			X91826	CCDS10501.1	16p13.11	2013-01-08			ENSG00000162086	ENSG00000162086		"""Zinc fingers, C2H2-type"", ""-"""	13146	protein-coding gene	gene with protein product		601473				8661144	Standard	NM_153028		Approved	FLJ31529	uc002cut.4	Q96N20	OTTHUMG00000129356	ENST00000574298.1:c.357G>A	16.37:g.3367335G>A	ENSP00000459566:p.Met119Ile		Q0VDI8|Q92669	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.M119I	ENST00000574298.1	37	c.357	CCDS10501.1	16	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.070764	0.00379	.	.	ENSG00000162086	ENST00000293995	.	.	.	4.57	-9.14	0.00701	.	2.293110	0.01981	N	0.044822	T	0.08088	0.0202	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32561	-0.9902	9	0.44086	T	0.13	.	1.3578	0.02186	0.3455:0.0829:0.2317:0.3399	.	119	Q96N20	ZN75A_HUMAN	I	119	.	ENSP00000293995:M119I	M	+	3	0	ZNF75A	3307336	0.000000	0.05858	0.000000	0.03702	0.380000	0.30137	-2.388000	0.01059	-2.898000	0.00313	-1.469000	0.01011	ATG	ZNF75A	-	NULL	ENSG00000162086		0.388	ZNF75A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF75A	HGNC	protein_coding	OTTHUMT00000251506.2	77	0.00	0	G	NM_153028		3367335	3367335	+1	no_errors	ENST00000574298	ensembl	human	known	69_37n	missense	40	16.67	8	SNP	0.000	A
ZNF77	58492	genome.wustl.edu	37	19	2933700	2933700	+	Silent	SNP	G	G	A	rs182295943		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:2933700G>A	ENST00000314531.4	-	4	1517	c.1425C>T	c.(1423-1425)caC>caT	p.H475H		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTACTGAGCGTGGCTGAAGG	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		24395	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													149.0	140.0	143.0					19																	2933700		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1425C>T	19.37:g.2933700G>A			Q86XJ3|Q9NPP0	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.H475	ENST00000314531.4	37	c.1425	CCDS12099.1	19																																																																																			ZNF77	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000175691		0.507	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF77	HGNC	protein_coding	OTTHUMT00000451924.1	482	0.00	0	G	NM_021217		2933700	2933700	-1	no_errors	ENST00000314531	ensembl	human	known	69_37n	silent	367	23.70	114	SNP	0.000	A
ZNF782	158431	genome.wustl.edu	37	9	99581357	99581357	+	Silent	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr9:99581357T>C	ENST00000481138.1	-	6	1609	c.948A>G	c.(946-948)ggA>ggG	p.G316G	ZNF782_ENST00000535338.1_Silent_p.G184G|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	316					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)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TGAAACTTTTTCCATATTCAA	0.408																																						dbGAP											0													112.0	110.0	110.0					9																	99581357		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.948A>G	9.37:g.99581357T>C			B2RNR0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K305E	ENST00000481138.1	37	c.913	CCDS35075.1	9	.	.	.	.	.	.	.	.	.	.	T	9.927	1.213800	0.22289	.	.	ENSG00000196597	ENST00000289032	.	.	.	3.25	2.12	0.27331	.	.	.	.	.	T	0.51822	0.1697	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41840	-0.9486	4	.	.	.	.	4.7835	0.13213	0.0:0.2564:0.0:0.7436	.	.	.	.	E	305	.	.	K	-	1	0	ZNF782	98621178	0.000000	0.05858	0.407000	0.26434	0.519000	0.34347	-0.457000	0.06745	0.654000	0.30846	0.524000	0.50904	AAA	ZNF782	-	NULL	ENSG00000196597		0.408	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF782	HGNC	protein_coding	OTTHUMT00000356810.1	56	0.00	0	T	NM_001001662		99581357	99581357	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000289032	ensembl	human	putative	69_37n	missense	26	16.13	5	SNP	0.995	C
ZNF805	390980	genome.wustl.edu	37	19	57765022	57765022	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:57765022C>T	ENST00000414468.2	+	4	835	c.835C>T	c.(835-837)Cgg>Tgg	p.R279W	ZNF805_ENST00000354309.4_Missense_Mutation_p.R146W|ZNF805_ENST00000535550.1_Missense_Mutation_p.R146W	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	279					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						CCAGCACCAGCGGATTCACAG	0.527																																						dbGAP											0													43.0	43.0	43.0					19																	57765022		692	1591	2283	-	-	-	SO:0001583	missense	0			AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"""Zinc fingers, C2H2-type"", ""-"""	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.835C>T	19.37:g.57765022C>T	ENSP00000412999:p.Arg279Trp		B4DNM5	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.R279W	ENST00000414468.2	37	c.835	CCDS46207.1	19	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842269	0.51057	.	.	ENSG00000204524	ENST00000535550;ENST00000414468;ENST00000354309	T;T;T	0.25579	1.79;1.79;1.79	4.34	1.78	0.24846	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.823689	0.09982	N	0.730919	T	0.59878	0.2226	H	0.95114	3.625	0.19775	N	0.999951	D	0.89917	1.0	D	0.97110	1.0	T	0.41945	-0.9480	10	0.87932	D	0	.	7.4953	0.27485	0.4294:0.4443:0.1264:0.0	.	279	Q5CZA5	ZN805_HUMAN	W	146;279;146	ENSP00000440067:R146W;ENSP00000412999:R279W;ENSP00000365414:R146W	ENSP00000365414:R146W	R	+	1	2	ZNF805	62456834	0.000000	0.05858	0.998000	0.56505	0.965000	0.64279	-0.321000	0.08018	0.508000	0.28173	0.655000	0.94253	CGG	ZNF805	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204524		0.527	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF805	HGNC	protein_coding	OTTHUMT00000465722.1	188	0.53	1	C	NM_001023563		57765022	57765022	+1	no_errors	ENST00000414468	ensembl	human	known	69_37n	missense	50	29.58	21	SNP	0.364	T
ZNF814	730051	genome.wustl.edu	37	19	58384385	58384385	+	Silent	SNP	T	T	C	rs565802666	byFrequency	TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:58384385T>C	ENST00000435989.2	-	3	2607	c.2373A>G	c.(2371-2373)aaA>aaG	p.K791K	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	791					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TGTGAACTCTTTTGTGTTTTG	0.413													.|||	2	0.000399361	0.0008	0.0	5008	,	,		20803	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													74.0	63.0	66.0					19																	58384385		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.2373A>G	19.37:g.58384385T>C			A6NF35	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.K791	ENST00000435989.2	37	c.2373	CCDS46212.1	19																																																																																			ZNF814	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204514		0.413	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	147	0.00	0	T	XM_001725708		58384385	58384385	-1	no_errors	ENST00000435989	ensembl	human	known	69_37n	silent	63	11.27	8	SNP	0.000	C
ZNF99	7652	genome.wustl.edu	37	19	22941129	22941129	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:22941129T>C	ENST00000596209.1	-	4	1672	c.1582A>G	c.(1582-1584)Aag>Gag	p.K528E	ZNF99_ENST00000397104.3_Missense_Mutation_p.K437E	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	528					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGAATTATCTTATGTTTTCTA	0.333																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1582A>G	19.37:g.22941129T>C	ENSP00000472969:p.Lys528Glu		M0R335	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.K437E	ENST00000596209.1	37	c.1309	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	-	9.990	1.230549	0.22542	.	.	ENSG00000213973	ENST00000397104	T	0.18016	2.24	1.29	-1.59	0.08453	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16085	0.0387	N	0.17800	0.525	0.09310	N	1	P	0.51147	0.942	P	0.54270	0.747	T	0.22417	-1.0217	9	0.45353	T	0.12	.	7.2218	0.25992	0.0:0.0:0.6996:0.3004	.	437	A8MXY4	ZNF99_HUMAN	E	437	ENSP00000380293:K437E	ENSP00000380293:K437E	K	-	1	0	ZNF99	22732969	0.000000	0.05858	0.001000	0.08648	0.045000	0.14185	-1.164000	0.03135	-0.293000	0.08986	0.329000	0.21502	AAG	ZNF99	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213973		0.333	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	28	0.00	0	T	XM_065124		22941129	22941129	-1	no_errors	ENST00000397104	ensembl	human	known	69_37n	missense	11	42.11	8	SNP	0.006	C
ZNF814	730051	genome.wustl.edu	37	19	58384394	58384394	+	Silent	SNP	T	T	A	rs534434666		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:58384394T>A	ENST00000435989.2	-	3	2598	c.2364A>T	c.(2362-2364)acA>acT	p.T788T	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	788					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTTTGTGTTTTGTGAAACTGG	0.408													.|||	1	0.000199681	0.0	0.0	5008	,	,		20640	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													75.0	62.0	66.0					19																	58384394		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.2364A>T	19.37:g.58384394T>A			A6NF35	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.T788	ENST00000435989.2	37	c.2364	CCDS46212.1	19																																																																																			ZNF814	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204514		0.408	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	142	0.00	0	T	XM_001725708		58384394	58384394	-1	no_errors	ENST00000435989	ensembl	human	known	69_37n	silent	60	11.59	8	SNP	0.000	A
ZNRF1	84937	genome.wustl.edu	37	16	75033946	75033946	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr16:75033946A>G	ENST00000335325.4	+	1	1019	c.377A>G	c.(376-378)gAt>gGt	p.D126G	ZNRF1_ENST00000566250.1_Missense_Mutation_p.D126G|ZNRF1_ENST00000567962.1_Missense_Mutation_p.D126G|WDR59_ENST00000562331.1_5'Flank|ZNRF1_ENST00000320619.6_Missense_Mutation_p.D126G	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase	126					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)	1						TCGCTGGCGGATGCTCTACCT	0.672																																						dbGAP											0													32.0	32.0	32.0					16																	75033946		2195	4299	6494	-	-	-	SO:0001583	missense	0			AF378524	CCDS10912.1	16q22.3	2013-01-09	2012-02-23		ENSG00000186187	ENSG00000186187		"""RING-type (C3HC4) zinc fingers"""	18452	protein-coding gene	gene with protein product		612060	"""zinc and ring finger 1"""				Standard	NM_032268		Approved	nin283, FLJ14846, DKFZp434E229	uc002fdl.1	Q8ND25	OTTHUMG00000137606	ENST00000335325.4:c.377A>G	16.37:g.75033946A>G	ENSP00000335091:p.Asp126Gly		D3DUJ9|Q9H083	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.D126G	ENST00000335325.4	37	c.377	CCDS10912.1	16	.	.	.	.	.	.	.	.	.	.	A	16.46	3.130048	0.56721	.	.	ENSG00000186187	ENST00000320619;ENST00000335325	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	N	0.16368	0.405	0.54753	D	0.999989	P;B;P	0.38800	0.648;0.014;0.516	B;B;B	0.41088	0.347;0.036;0.188	T	0.16719	-1.0393	9	0.07644	T	0.81	-2.6239	13.8521	0.63504	1.0:0.0:0.0:0.0	.	126;126;126	B4DG67;Q8ND25-2;Q8ND25	.;.;ZNRF1_HUMAN	G	126	.	ENSP00000323362:D126G	D	+	2	0	ZNRF1	73591447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.749000	0.85096	2.182000	0.69389	0.528000	0.53228	GAT	ZNRF1	-	NULL	ENSG00000186187		0.672	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNRF1	HGNC	protein_coding	OTTHUMT00000269020.2	114	0.87	1	A			75033946	75033946	+1	no_errors	ENST00000320619	ensembl	human	known	69_37n	missense	121	21.43	33	SNP	1.000	G
ZNRF4	148066	genome.wustl.edu	37	19	5455986	5455986	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:5455986C>T	ENST00000222033.4	+	1	561	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	162	PA.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CGTGCTGATCCGCCGCTACGA	0.667																																						dbGAP											0													32.0	35.0	34.0					19																	5455986		2136	4244	6380	-	-	-	SO:0001583	missense	0			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.484C>T	19.37:g.5455986C>T	ENSP00000222033:p.Arg162Cys		A8K886|O75866	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R162C	ENST00000222033.4	37	c.484	CCDS42475.1	19	.	.	.	.	.	.	.	.	.	.	C	13.72	2.322271	0.41096	.	.	ENSG00000105428	ENST00000222033	T	0.09255	3.0	4.65	4.65	0.58169	Protease-associated domain, PA (1);	0.067181	0.64402	U	0.000015	T	0.32615	0.0835	M	0.92459	3.31	0.22050	N	0.999398	D	0.56521	0.976	P	0.52031	0.688	T	0.42666	-0.9438	10	0.72032	D	0.01	-27.1863	14.2204	0.65823	0.0:1.0:0.0:0.0	.	162	Q8WWF5	ZNRF4_HUMAN	C	162	ENSP00000222033:R162C	ENSP00000222033:R162C	R	+	1	0	ZNRF4	5406986	0.931000	0.31567	0.021000	0.16686	0.106000	0.19336	1.265000	0.33027	2.140000	0.66376	0.491000	0.48974	CGC	ZNRF4	-	pfam_Protease-assoc_domain	ENSG00000105428		0.667	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRF4	HGNC	protein_coding	OTTHUMT00000450924.1	25	0.00	0	C	NM_181710		5455986	5455986	+1	no_errors	ENST00000222033	ensembl	human	known	69_37n	missense	34	28.57	14	SNP	0.070	T
ZRANB1	54764	genome.wustl.edu	37	10	126670316	126670316	+	Missense_Mutation	SNP	C	C	A	rs59394223		TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr10:126670316C>A	ENST00000359653.4	+	6	1837	c.1466C>A	c.(1465-1467)tCt>tAt	p.S489Y	ZRANB1_ENST00000471421.1_3'UTR	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	489	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TCATGGTATTCTCAGAGCTTT	0.348																																						dbGAP											0													129.0	131.0	130.0					10																	126670316		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1466C>A	10.37:g.126670316C>A	ENSP00000352676:p.Ser489Tyr		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2	p.S489Y	ENST00000359653.4	37	c.1466	CCDS7642.1	10	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287038	0.80803	.	.	ENSG00000019995	ENST00000359653	T	0.19669	2.13	5.61	4.71	0.59529	Ovarian tumour, otubain (2);	0.055938	0.64402	D	0.000001	T	0.33760	0.0874	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	T	0.09751	-1.0660	10	0.72032	D	0.01	-16.0706	14.2495	0.66011	0.0:0.9287:0.0:0.0713	.	489	Q9UGI0	ZRAN1_HUMAN	Y	489	ENSP00000352676:S489Y	ENSP00000352676:S489Y	S	+	2	0	ZRANB1	126660306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.440000	0.80464	1.368000	0.46115	0.655000	0.94253	TCT	ZRANB1	-	pfam_OTU,pfscan_OTU	ENSG00000019995		0.348	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZRANB1	HGNC	protein_coding	OTTHUMT00000050898.1	218	0.00	0	C	NM_017580		126670316	126670316	+1	no_errors	ENST00000359653	ensembl	human	known	69_37n	missense	71	18.39	16	SNP	1.000	A
ZSWIM4	65249	genome.wustl.edu	37	19	13910714	13910714	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:13910714G>A	ENST00000254323.2	+	2	523	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	CTD-3252C9.2_ENST00000591242.1_RNA	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	112							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GAGCGGGGCCGTGGACCGCGT	0.652																																						dbGAP											0													32.0	31.0	31.0					19																	13910714		2203	4298	6501	-	-	-	SO:0001583	missense	0			AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.334G>A	19.37:g.13910714G>A	ENSP00000254323:p.Val112Met			Missense_Mutation	SNP	pfscan_Znf_SWIM	p.V112M	ENST00000254323.2	37	c.334	CCDS32924.1	19	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912060	0.72983	.	.	ENSG00000132003	ENST00000254323	T	0.66638	-0.22	4.31	4.31	0.51392	.	0.797950	0.10264	N	0.695609	T	0.81664	0.4870	M	0.85859	2.78	0.80722	D	1	D	0.76494	0.999	P	0.58331	0.837	T	0.81936	-0.0705	10	0.87932	D	0	-11.4816	14.3012	0.66355	0.0:0.0:1.0:0.0	.	112	Q9H7M6	ZSWM4_HUMAN	M	112	ENSP00000254323:V112M	ENSP00000254323:V112M	V	+	1	0	ZSWIM4	13771714	1.000000	0.71417	0.516000	0.27786	0.928000	0.56348	8.352000	0.90075	1.946000	0.56461	0.484000	0.47621	GTG	ZSWIM4	-	NULL	ENSG00000132003		0.652	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM4	HGNC	protein_coding	OTTHUMT00000457457.1	36	0.00	0	G	XM_031342		13910714	13910714	+1	no_errors	ENST00000254323	ensembl	human	known	69_37n	missense	72	14.12	12	SNP	1.000	A
ZSCAN5A	79149	genome.wustl.edu	37	19	56736149	56736149	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr19:56736149C>T	ENST00000587340.1	-	4	962	c.267G>A	c.(265-267)atG>atA	p.M89I	ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.M89I|ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.M89I|ZSCAN5A_ENST00000254165.3_Intron			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	89	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGAACTGCTCCATCACCAGCA	0.557																																						dbGAP											0													17.0	18.0	18.0					19																	56736149		2168	4255	6423	-	-	-	SO:0001583	missense	0			AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.267G>A	19.37:g.56736149C>T	ENSP00000467631:p.Met89Ile		B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.M89I	ENST00000587340.1	37	c.267	CCDS12941.1	19	.	.	.	.	.	.	.	.	.	.	C	8.085	0.773271	0.16051	.	.	ENSG00000131848	ENST00000391713	T	0.03982	3.74	2.27	0.0914	0.14468	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.13372	0.0324	M	0.63428	1.95	0.22796	N	0.998727	D	0.54964	0.969	D	0.70227	0.968	T	0.13308	-1.0514	9	0.72032	D	0.01	.	4.3573	0.11185	0.0:0.6485:0.0:0.3515	.	89	Q9BUG6	ZSA5A_HUMAN	I	89	ENSP00000375593:M89I	ENSP00000375593:M89I	M	-	3	0	ZSCAN5A	61427961	1.000000	0.71417	0.282000	0.24776	0.113000	0.19764	1.426000	0.34870	0.091000	0.17302	-0.339000	0.08088	ATG	ZSCAN5A	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000131848		0.557	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZSCAN5A	HGNC	protein_coding	OTTHUMT00000458110.1	55	0.00	0	C	NM_024303		56736149	56736149	-1	no_errors	ENST00000391713	ensembl	human	known	69_37n	missense	60	10.45	7	SNP	0.359	T
ZYG11B	79699	genome.wustl.edu	37	1	53267560	53267560	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A128-01A-11D-A10M-09	TCGA-AO-A128-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	46ae2a1c-e694-4a86-b127-e6fbaa676b69	cf7bd3e2-fe1d-43bc-a1dd-14197984162e	g.chr1:53267560A>G	ENST00000294353.6	+	9	1700	c.1555A>G	c.(1555-1557)Agt>Ggt	p.S519G	ZYG11B_ENST00000545132.1_Missense_Mutation_p.S519G|ZYG11B_ENST00000443756.2_Intron	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	519										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						ATTTACTTTGAGTGCACTTTG	0.343																																						dbGAP											0													63.0	61.0	62.0					1																	53267560		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1555A>G	1.37:g.53267560A>G	ENSP00000294353:p.Ser519Gly		Q8N2X3|Q9H8L8	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S519G	ENST00000294353.6	37	c.1555	CCDS30717.1	1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.664236	0.88251	.	.	ENSG00000162378	ENST00000545132;ENST00000294353	T;T	0.47528	0.84;0.84	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60599	0.2281	M	0.82323	2.585	0.80722	D	1	D	0.53745	0.962	P	0.48227	0.571	T	0.68845	-0.5301	10	0.66056	D	0.02	.	15.6592	0.77169	1.0:0.0:0.0:0.0	.	519	Q9C0D3	ZY11B_HUMAN	G	519	ENSP00000441315:S519G;ENSP00000294353:S519G	ENSP00000294353:S519G	S	+	1	0	ZYG11B	53040148	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.243000	0.95416	2.095000	0.63458	0.482000	0.46254	AGT	ZYG11B	-	superfamily_ARM-type_fold	ENSG00000162378		0.343	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZYG11B	HGNC	protein_coding	OTTHUMT00000024749.1	67	0.00	0	A	NM_024646		53267560	53267560	+1	no_errors	ENST00000294353	ensembl	human	known	69_37n	missense	22	26.67	8	SNP	1.000	G
