#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ACACA	31	genome.wustl.edu	37	17	35518738	35518738	+	Missense_Mutation	SNP	T	T	C	rs367676848		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr17:35518738T>C	ENST00000394406.2	-	42	5385	c.5195A>G	c.(5194-5196)cAt>cGt	p.H1732R	ACACA_ENST00000335166.5_Missense_Mutation_p.H1654R|ACACA_ENST00000353139.5_Missense_Mutation_p.H1769R|ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000360679.3_Missense_Mutation_p.H1674R	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1732	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)	ATGAAACATATGGCGAATTTC	0.453																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0								T	ARG/HIS,ARG/HIS,ARG/HIS,ARG/HIS,ARG/HIS	1,4405	2.1+/-5.4	0,1,2202	186.0	147.0	160.0		5195,4961,5021,5195,5306	5.0	1.0	17		160	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	ACACA	NM_198839.1,NM_198838.1,NM_198837.1,NM_198836.1,NM_198834.1	29,29,29,29,29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	1732/2347,1654/2269,1674/2289,1732/2347,1769/2384	35518738	1,13005	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.5195A>G	17.37:g.35518738T>C	ENSP00000377928:p.His1732Arg		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.H1769R	ENST00000394406.2	37	c.5306	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	T	14.95	2.689209	0.48097	2.27E-4	0.0	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39	5.01	5.01	0.66863	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94807	0.8323	L	0.49455	1.56	0.80722	D	1	B;B;B;B	0.33280	0.066;0.405;0.013;0.01	B;B;B;B	0.31547	0.021;0.132;0.005;0.003	D	0.94012	0.7285	10	0.35671	T	0.21	-16.4961	15.0301	0.71698	0.0:0.0:0.0:1.0	.	431;1769;1732;1674	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	R	1769;1674;1732;1756;1654;431	ENSP00000344789:H1769R;ENSP00000353898:H1674R;ENSP00000377928:H1732R;ENSP00000335323:H1654R	ENSP00000335323:H1654R	H	-	2	0	ACACA	32592851	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.997000	0.88414	2.014000	0.59158	0.383000	0.25322	CAT	ACACA	-	pfam_Carboxyl_trans,pfscan_COA_CT_N	ENSG00000132142		0.453	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	-	0.00	40	0	T	NM_198836		35518738	-1	tier1	-	no_errors	ENST00000353139	ensembl	human	known	74_37	missense	8.16	44	4	SNP	1.000	C
ADAT1	23536	genome.wustl.edu	37	16	75637047	75637047	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr16:75637047G>T	ENST00000307921.3	-	10	1457	c.1312C>A	c.(1312-1314)Ctc>Atc	p.L438I	ADAT1_ENST00000568478.1_5'Flank|RP11-77K12.8_ENST00000564489.1_RNA	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	438	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						GATCTGAAGAGTTCCACTTTG	0.418																																																	0													278.0	264.0	269.0					16																	75637047		2198	4300	6498	SO:0001583	missense	0			AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.1312C>A	16.37:g.75637047G>T	ENSP00000310015:p.Leu438Ile		Q9NVB7|Q9UNG3	Missense_Mutation	SNP	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	p.L438I	ENST00000307921.3	37	c.1312	CCDS10922.1	16	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480687	0.63849	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	D	0.95690	-3.78	5.5	4.55	0.56014	Adenosine deaminase/editase (3);	0.120339	0.56097	D	0.000031	D	0.95592	0.8567	M	0.63843	1.955	0.48901	D	0.999727	P	0.51537	0.946	P	0.56514	0.8	D	0.94200	0.7449	10	0.39692	T	0.17	-6.7155	8.8454	0.35168	0.1712:0.0:0.8288:0.0	.	438	Q9BUB4	ADAT1_HUMAN	I	438;409	ENSP00000310015:L438I	ENSP00000310015:L438I	L	-	1	0	ADAT1	74194548	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	1.228000	0.32588	1.453000	0.47775	0.650000	0.86243	CTC	ADAT1	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000065457		0.418	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAT1	HGNC	protein_coding	OTTHUMT00000269027.1	-	0.00	44	0	G	NM_012091		75637047	-1	tier1	-	no_errors	ENST00000307921	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T
ADH6	130	genome.wustl.edu	37	4	100137153	100137153	+	Intron	SNP	G	G	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr4:100137153G>T	ENST00000237653.7	-	2	505				RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000394899.2_Intron|ADH6_ENST00000407820.2_Intron|ADH6_ENST00000394897.1_Intron|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)						ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	TATCTGGCTGGATTTAAAAAT	0.274																																																	0																																										SO:0001627	intron_variant	0			AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.120+164C>A	4.37:g.100137153G>T			B3KS45|Q58F53	RNA	SNP	-	NULL	ENST00000237653.7	37	NULL	CCDS3647.1	4																																																																																			ADH6	-	-	ENSG00000172955		0.274	ADH6-003	KNOWN	basic|CCDS	protein_coding	ADH6	HGNC	protein_coding	OTTHUMT00000253665.1	-	0.00	27	0	G	NM_000672		100137153	-1	tier1	-	no_errors	ENST00000513262	ensembl	human	putative	74_37	rna	21.43	22	6	SNP	0.004	T
AGO4	192670	genome.wustl.edu	37	1	36290920	36290920	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:36290920A>G	ENST00000373210.3	+	4	558	c.313A>G	c.(313-315)Atg>Gtg	p.M105V		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	105					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										TTAGGTTGATATGGAGGTGAC	0.398																																																	0													186.0	183.0	184.0					1																	36290920		2203	4300	6503	SO:0001583	missense	0			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.313A>G	1.37:g.36290920A>G	ENSP00000362306:p.Met105Val		A7MD27	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.M105V	ENST00000373210.3	37	c.313	CCDS397.1	1	.	.	.	.	.	.	.	.	.	.	A	6.693	0.496581	0.12762	.	.	ENSG00000134698	ENST00000373210	T	0.08282	3.11	5.82	5.82	0.92795	Argonaute/Dicer protein, PAZ (1);	0.047822	0.85682	D	0.000000	T	0.02119	0.0066	N	0.00389	-1.56	0.41346	D	0.987332	B	0.02656	0.0	B	0.01281	0.0	T	0.41928	-0.9481	10	0.06757	T	0.87	-18.6971	11.2904	0.49247	0.864:0.0:0.0:0.136	.	105	Q9HCK5	AGO4_HUMAN	V	105	ENSP00000362306:M105V	ENSP00000362306:M105V	M	+	1	0	EIF2C4	36063507	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.367000	0.44213	2.222000	0.72286	0.533000	0.62120	ATG	AGO4	-	superfamily_PAZ_dom	ENSG00000134698		0.398	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGO4	HGNC	protein_coding	OTTHUMT00000012213.3	-	0.00	47	0	A	NM_017629		36290920	+1	tier1	-	no_errors	ENST00000373210	ensembl	human	known	74_37	missense	16.33	41	8	SNP	1.000	G
AKAP9	10142	genome.wustl.edu	37	7	91624022	91624022	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr7:91624022G>A	ENST00000359028.2	+	7	925	c.700G>A	c.(700-702)Gat>Aat	p.D234N	AKAP9_ENST00000356239.3_Missense_Mutation_p.D222N|AKAP9_ENST00000394564.1_Missense_Mutation_p.D222N|AKAP9_ENST00000358100.2_Missense_Mutation_p.D234N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	234	Gln-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAGAGAAAAGGATGAGACAAT	0.313			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													63.0	65.0	64.0					7																	91624022		2203	4296	6499	SO:0001583	missense	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.700G>A	7.37:g.91624022G>A	ENSP00000351922:p.Asp234Asn		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB	p.D234N	ENST00000359028.2	37	c.700		7	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187711	0.78789	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565;ENST00000394564;ENST00000438114	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	4.94	4.94	0.65067	.	0.000000	0.37261	N	0.002171	T	0.58308	0.2113	L	0.27053	0.805	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.91635	0.999;0.995;0.996;0.993	T	0.62520	-0.6837	10	0.59425	D	0.04	.	18.5538	0.91075	0.0:0.0:1.0:0.0	.	222;222;234;222	Q99996-2;Q99996-3;A4D1E4;Q6PJH3	.;.;.;.	N	222;234;234;234;234;222;173	ENSP00000348573:D222N;ENSP00000351922:D234N;ENSP00000350813:D234N;ENSP00000378065:D222N;ENSP00000391704:D173N	ENSP00000348573:D222N	D	+	1	0	AKAP9	91461958	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.143000	0.94623	2.440000	0.82611	0.655000	0.94253	GAT	AKAP9	-	NULL	ENSG00000127914		0.313	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding			0.00	22	0	G	NM_005751		91624022	+1			no_errors	ENST00000359028	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	A
AKT3	10000	genome.wustl.edu	37	1	243675719	243675719	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:243675719G>T	ENST00000366539.1	-	13	1461	c.1261C>A	c.(1261-1263)Cct>Act	p.P421T	AKT3_ENST00000336199.5_Missense_Mutation_p.P421T|AKT3_ENST00000366540.1_Missense_Mutation_p.P421T|AKT3_ENST00000263826.5_Missense_Mutation_p.P421T			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	421	AGC-kinase C-terminal.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			GGTTTAAAAGGAGGTACAAGC	0.313																																																	0													75.0	77.0	76.0					1																	243675719		2200	4297	6497	SO:0001583	missense	0			AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.1261C>A	1.37:g.243675719G>T	ENSP00000355497:p.Pro421Thr		Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom	p.P421T	ENST00000366539.1	37	c.1261	CCDS31077.1	1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926136	0.92319	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.88	5.88	0.94601	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.053435	0.85682	D	0.000000	T	0.81484	0.4832	H	0.95504	3.68	0.80722	D	1	D;D	0.63880	0.993;0.991	P;D	0.66196	0.876;0.942	D	0.86184	0.1608	10	0.87932	D	0	.	20.2279	0.98344	0.0:0.0:1.0:0.0	.	421;421	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	T	421	ENSP00000336943:P421T;ENSP00000355498:P421T;ENSP00000355497:P421T;ENSP00000263826:P421T	ENSP00000263826:P421T	P	-	1	0	AKT3	241742342	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.778000	0.95560	0.655000	0.94253	CCT	AKT3	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C	ENSG00000117020		0.313	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKT3	HGNC	protein_coding	OTTHUMT00000096479.1		0.00	32	0	G	NM_181690		243675719	-1			no_errors	ENST00000263826	ensembl	human	known	74_37	missense	9.26	49	5	SNP	1.000	T
ANKS1B	56899	genome.wustl.edu	37	12	99548119	99548119	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr12:99548119G>T	ENST00000547776.2	-	15	2473	c.2474C>A	c.(2473-2475)cCt>cAt	p.P825H	ANKS1B_ENST00000549025.2_5'UTR|ANKS1B_ENST00000549558.2_Missense_Mutation_p.P51H|ANKS1B_ENST00000332712.7_Missense_Mutation_p.P51H|ANKS1B_ENST00000546960.1_Missense_Mutation_p.P51H|ANKS1B_ENST00000550693.2_Missense_Mutation_p.P51H|ANKS1B_ENST00000329257.7_Missense_Mutation_p.P825H|ANKS1B_ENST00000547010.1_Missense_Mutation_p.P401H|ANKS1B_ENST00000547446.1_Missense_Mutation_p.P20H|ANKS1B_ENST00000549493.2_Missense_Mutation_p.P51H|ANKS1B_ENST00000546568.1_Missense_Mutation_p.P51H	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	825	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CTCGTACTGAGGTAGCCCAAT	0.498																																																	0													108.0	111.0	110.0					12																	99548119		2006	4169	6175	SO:0001583	missense	0			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2474C>A	12.37:g.99548119G>T	ENSP00000449629:p.Pro825His		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt	p.P825H	ENST00000547776.2	37	c.2474	CCDS55872.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.983|5.983	0.365335|0.365335	0.11352|0.11352	.|.	.|.	ENSG00000185046|ENSG00000185046	ENST00000550778|ENST00000549558;ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000550693;ENST00000549493;ENST00000547446;ENST00000546568;ENST00000332712;ENST00000546960;ENST00000552245	.|T;T;T;T;T;T;T;T;T;T	.|0.51325	.|0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.96|5.96	5.96|5.96	0.96718|0.96718	.|Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	.|0.215850	.|0.42172	.|D	.|0.000744	T|T	0.66257|0.66257	0.2771|0.2771	L|L	0.59436|0.59436	1.845|1.845	0.26037|0.26037	N|N	0.981656|0.981656	.|D;B;P;D;B;B;P;P;D;P	.|0.89917	.|0.978;0.019;0.733;0.971;0.07;0.02;0.825;0.765;1.0;0.855	.|P;B;B;P;B;B;P;P;D;P	.|0.72982	.|0.791;0.04;0.4;0.814;0.04;0.04;0.518;0.529;0.979;0.667	T|T	0.59440|0.59440	-0.7454|-0.7454	5|9	.|.	.|.	.|.	-10.0979|-10.0979	18.6025|18.6025	0.91253|0.91253	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|20;51;51;51;39;51;51;401;825;51	.|F8VPM3;Q7Z6G8-4;Q7Z6G8-5;F8VZ47;F8VQW6;Q7Z6G8-2;Q7Z6G8-3;Q7Z6G8-6;Q7Z6G8;Q7Z6G8-7	.|.;.;.;.;.;.;.;.;ANS1B_HUMAN;.	I|H	97|51;825;401;825;400;51;51;20;51;51;51;51	.|ENSP00000448993:P51H;ENSP00000449629:P825H;ENSP00000448512:P401H;ENSP00000331381:P825H;ENSP00000447999:P51H;ENSP00000448203:P51H;ENSP00000450015:P20H;ENSP00000448205:P51H;ENSP00000332683:P51H;ENSP00000447839:P51H	.|.	L|P	-|-	1|2	0|0	ANKS1B|ANKS1B	98072250|98072250	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.095000|4.095000	0.57728|0.57728	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	CTC|CCT	ANKS1B	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000185046		0.498	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	HGNC	protein_coding	OTTHUMT00000408421.3		0.00	38	0	G	NM_020140		99548119	-1			no_errors	ENST00000329257	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T
AP3B1	8546	genome.wustl.edu	37	5	77477446	77477446	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr5:77477446G>T	ENST00000255194.6	-	8	1002	c.827C>A	c.(826-828)tCt>tAt	p.S276Y	AP3B1_ENST00000519295.1_Missense_Mutation_p.S227Y	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	276					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ATCATCATCAGATTCGTAGAA	0.348									Hermansky-Pudlak syndrome																																								0													116.0	113.0	114.0					5																	77477446		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.827C>A	5.37:g.77477446G>T	ENSP00000255194:p.Ser276Tyr		E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	p.S276Y	ENST00000255194.6	37	c.827	CCDS4041.1	5	.	.	.	.	.	.	.	.	.	.	G	27.7	4.850867	0.91277	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.58940	0.3;0.31	5.93	5.93	0.95920	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78836	0.4346	M	0.80183	2.485	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.80084	-0.1530	10	0.87932	D	0	-14.6804	20.3368	0.98748	0.0:0.0:1.0:0.0	.	276	O00203	AP3B1_HUMAN	Y	276;227;276;180	ENSP00000255194:S276Y;ENSP00000430597:S227Y	ENSP00000255194:S276Y	S	-	2	0	AP3B1	77513202	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	9.444000	0.97578	2.805000	0.96524	0.655000	0.94253	TCT	AP3B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	ENSG00000132842		0.348	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	HGNC	protein_coding	OTTHUMT00000225548.2		0.00	35	0	G			77477446	-1			no_errors	ENST00000255194	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T
APOA1	335	genome.wustl.edu	37	11	116706854	116706854	+	Silent	SNP	C	C	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr11:116706854C>T	ENST00000236850.4	-	4	839	c.474G>A	c.(472-474)ctG>ctA	p.L158L	AP006216.12_ENST00000444200.1_RNA|APOA1_ENST00000375320.1_Silent_p.L158L|APOA1_ENST00000375329.2_Silent_p.L136L|APOA1_ENST00000359492.2_Silent_p.L158L|APOA1_ENST00000375323.1_Silent_p.L158L	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN	apolipoprotein A-I	158	10 X approximate tandem repeats.				adrenal gland development (GO:0030325)|blood coagulation (GO:0007596)|blood vessel endothelial cell migration (GO:0043534)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor signaling pathway (GO:0007186)|glucocorticoid metabolic process (GO:0008211)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|integrin-mediated signaling pathway (GO:0007229)|lipid storage (GO:0019915)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|negative chemotaxis (GO:0050919)|negative regulation of cell adhesion molecule production (GO:0060354)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of lipase activity (GO:0060192)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|peripheral nervous system axon regeneration (GO:0014012)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of hydrolase activity (GO:0051345)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transferase activity (GO:0051347)|protein oxidation (GO:0018158)|protein stabilization (GO:0050821)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein phosphorylation (GO:0001932)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to nutrient (GO:0007584)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	apolipoprotein A-I receptor binding (GO:0034191)|apolipoprotein receptor binding (GO:0034190)|beta-amyloid binding (GO:0001540)|chemorepellent activity (GO:0045499)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|enzyme binding (GO:0019899)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|identical protein binding (GO:0042802)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GCAGCTCGTGCAGCTTCTGGC	0.677																																																	0													27.0	27.0	27.0					11																	116706854		2201	4292	6493	SO:0001819	synonymous_variant	0			X02162	CCDS8378.1	11q23-q24	2014-09-17			ENSG00000118137	ENSG00000118137		"""Apolipoproteins"""	600	protein-coding gene	gene with protein product		107680					Standard	NM_000039		Approved		uc001ppv.1	P02647	OTTHUMG00000046112	ENST00000236850.4:c.474G>A	11.37:g.116706854C>T			A8K866|Q6LDN9|Q6Q785|Q9UCS8|Q9UCT8	Silent	SNP	pfam_ApoA1_A4_E	p.L158	ENST00000236850.4	37	c.474	CCDS8378.1	11																																																																																			APOA1	-	pfam_ApoA1_A4_E	ENSG00000118137		0.677	APOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA1	HGNC	protein_coding	OTTHUMT00000106281.2		0.00	30	0	C	NM_000039		116706854	-1			no_errors	ENST00000236850	ensembl	human	known	74_37	silent	9.09	30	3	SNP	0.989	T
ASB5	140458	genome.wustl.edu	37	4	177158564	177158564	+	Intron	SNP	G	G	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr4:177158564G>A	ENST00000296525.3	-	2	310				ASB5_ENST00000511879.1_5'UTR|ASB5_ENST00000512254.1_Intron	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		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;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		AATATCTGCGGACATAGTTTG	0.398																																																	0																																										SO:0001627	intron_variant	0			AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.197-12072C>T	4.37:g.177158564G>A			Q8N7B5	RNA	SNP	-	NULL	ENST00000296525.3	37	NULL	CCDS3827.1	4																																																																																			ASB5	-	-	ENSG00000164122		0.398	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB5	HGNC	protein_coding	OTTHUMT00000362344.1	-	0.00	64	0	G			177158564	-1	tier1	-	no_errors	ENST00000511879	ensembl	human	known	74_37	rna	21.18	67	18	SNP	0.863	A
ASPM	259266	genome.wustl.edu	37	1	197070956	197070956	+	Missense_Mutation	SNP	C	C	A	rs545567176		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:197070956C>A	ENST00000367409.4	-	18	7681	c.7425G>T	c.(7423-7425)aaG>aaT	p.K2475N	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2475	IQ 26. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTGTAACTTCTTCTTTACCA	0.378																																																	0													95.0	95.0	95.0					1																	197070956		2203	4298	6501	SO:0001583	missense	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7425G>T	1.37:g.197070956C>A	ENSP00000356379:p.Lys2475Asn		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.K2475N	ENST00000367409.4	37	c.7425	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	c	13.50	2.254563	0.39896	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.72725	-0.68	4.83	-0.257	0.12979	.	0.072712	0.56097	D	0.000028	T	0.74794	0.3763	M	0.72353	2.195	0.24537	N	0.994086	P;D	0.54397	0.952;0.966	P;P	0.62014	0.706;0.897	T	0.63717	-0.6574	10	0.38643	T	0.18	.	5.0737	0.14620	0.1505:0.236:0.0:0.6136	.	461;2475	E7EQ84;Q8IZT6	.;ASPM_HUMAN	N	2475;461	ENSP00000356379:K2475N	ENSP00000356376:K461N	K	-	3	2	ASPM	195337579	0.000000	0.05858	0.010000	0.14722	0.770000	0.43624	-0.245000	0.08890	-0.084000	0.12595	0.558000	0.71614	AAG	ASPM	-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000066279		0.378	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	-	0.00	86	0	C	NM_018136		197070956	-1	tier1	-	no_errors	ENST00000367409	ensembl	human	known	74_37	missense	13.11	106	16	SNP	0.021	A
ASTL	431705	genome.wustl.edu	37	2	96789707	96789707	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr2:96789707G>A	ENST00000342380.2	-	9	1177	c.1178C>T	c.(1177-1179)aCc>aTc	p.T393I		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TGTGGGCTTGGTGGACACTCC	0.607																																																	0													70.0	76.0	74.0					2																	96789707		2203	4300	6503	SO:0001583	missense	0			AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.1178C>T	2.37:g.96789707G>A	ENSP00000343674:p.Thr393Ile			Missense_Mutation	SNP	pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A	p.T393I	ENST00000342380.2	37	c.1178	CCDS33249.1	2	.	.	.	.	.	.	.	.	.	.	G	12.00	1.805879	0.31961	.	.	ENSG00000188886	ENST00000342380	T	0.69435	-0.4	4.32	0.303	0.15791	.	0.938290	0.08787	N	0.893859	T	0.49098	0.1537	L	0.27053	0.805	0.09310	N	1	B	0.17465	0.022	B	0.10450	0.005	T	0.42344	-0.9457	10	0.87932	D	0	0.0763	3.5189	0.07735	0.3075:0.0:0.5148:0.1777	.	393	Q6HA08	ASTL_HUMAN	I	393	ENSP00000343674:T393I	ENSP00000343674:T393I	T	-	2	0	ASTL	96153434	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.411000	0.21115	-0.056000	0.13221	0.555000	0.69702	ACC	ASTL	-	NULL	ENSG00000188886		0.607	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTL	HGNC	protein_coding	OTTHUMT00000338801.1	-	0.00	41	0	G			96789707	-1	tier1	-	no_errors	ENST00000342380	ensembl	human	known	74_37	missense	14.63	35	6	SNP	0.000	A
ASXL3	80816	genome.wustl.edu	37	18	31323088	31323088	+	Silent	SNP	G	G	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr18:31323088G>A	ENST00000269197.5	+	12	3276	c.3276G>A	c.(3274-3276)gaG>gaA	p.E1092E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1092					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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GTCCAGGAGAGGGTGGAAAGA	0.577																																																	0													47.0	49.0	48.0					18																	31323088		1941	4127	6068	SO:0001819	synonymous_variant	0			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3276G>A	18.37:g.31323088G>A			Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	superfamily_Znf_FYVE_PHD	p.E1092	ENST00000269197.5	37	c.3276	CCDS45847.1	18																																																																																			ASXL3	-	NULL	ENSG00000141431		0.577	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	-	0.00	31	0	G			31323088	+1	tier1	-	no_errors	ENST00000269197	ensembl	human	known	74_37	silent	18.75	26	6	SNP	0.934	A
ATAD3A	55210	genome.wustl.edu	37	1	1458215	1458215	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:1458215A>T	ENST00000378755.5	+	8	1080	c.986A>T	c.(985-987)aAg>aTg	p.K329M	ATAD3A_ENST00000378756.3_Missense_Mutation_p.K281M|ATAD3A_ENST00000536055.1_Missense_Mutation_p.K202M	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	329					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)		CGGCTGGGGAAGCCGTCCCTA	0.667																																																	0													24.0	33.0	30.0					1																	1458215		2195	4297	6492	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.986A>T	1.37:g.1458215A>T	ENSP00000368030:p.Lys329Met		B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Missense_Mutation	SNP	pfam_DUF3523,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K329M	ENST00000378755.5	37	c.986	CCDS31.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	15.16|15.16	2.750913|2.750913	0.49257|0.49257	.|.	.|.	ENSG00000197785|ENSG00000197785	ENST00000339113|ENST00000378756;ENST00000378755;ENST00000536055	.|D;D;D	.|0.95622	.|-3.51;-3.37;-3.76	5.11|5.11	2.71|2.71	0.32032|0.32032	.|ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523 (1);	.|0.152328	.|0.64402	.|N	.|0.000020	D|D	0.97576|0.97576	0.9206|0.9206	M|M	0.92122|0.92122	3.275|3.275	0.58432|0.58432	D|D	0.999993|0.999993	.|D;D	.|0.65815	.|0.995;0.995	.|D;D	.|0.71184	.|0.953;0.972	D|D	0.96136|0.96136	0.9096|0.9096	5|10	.|0.87932	.|D	.|0	.|.	7.1521|7.1521	0.25616|0.25616	0.7752:0.1471:0.0777:0.0|0.7752:0.1471:0.0777:0.0	.|.	.|281;329	.|D2K8Q1;Q9NVI7	.|.;ATD3A_HUMAN	D|M	266|281;329;202	.|ENSP00000368031:K281M;ENSP00000368030:K329M;ENSP00000439290:K202M	.|ENSP00000368030:K329M	E|K	+|+	3|2	2|0	ATAD3A|ATAD3A	1448078|1448078	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.013000|0.013000	0.08279|0.08279	4.563000|4.563000	0.60823|0.60823	0.257000|0.257000	0.21650|0.21650	0.528000|0.528000	0.53228|0.53228	GAA|AAG	ATAD3A	-	pfam_DUF3523	ENSG00000197785		0.667	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	ATAD3A	HGNC	protein_coding	OTTHUMT00000001365.1	-	0.00	97	0	A	NM_018188		1458215	+1	tier1	-	no_errors	ENST00000378755	ensembl	human	known	74_37	missense	15.70	102	19	SNP	1.000	T
ATP13A1	57130	genome.wustl.edu	37	19	19758016	19758016	+	Silent	SNP	T	T	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr19:19758016T>A	ENST00000357324.6	-	22	3053	c.3027A>T	c.(3025-3027)ggA>ggT	p.G1009G	ATP13A1_ENST00000291503.5_Silent_p.G891G	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	1009						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGAACTTGACTCCCTCCAGGT	0.617																																					Esophageal Squamous(142;920 1789 9047 14684 24777)												0													84.0	94.0	91.0					19																	19758016		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.3027A>T	19.37:g.19758016T>A			B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.G1009	ENST00000357324.6	37	c.3027	CCDS32970.2	19																																																																																			ATP13A1	-	tigrfam_ATPase_P-typ_Cation_typ_V	ENSG00000105726		0.617	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A1	HGNC	protein_coding	OTTHUMT00000329005.1	-	0.00	39	0	T	NM_020410		19758016	-1	tier1	-	no_errors	ENST00000357324	ensembl	human	known	74_37	silent	16.67	25	5	SNP	0.010	A
ATP2B4	493	genome.wustl.edu	37	1	203672839	203672839	+	Missense_Mutation	SNP	G	G	T	rs200430665		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:203672839G>T	ENST00000357681.5	+	8	2120	c.997G>T	c.(997-999)Gac>Tac	p.D333Y	ATP2B4_ENST00000367218.3_Missense_Mutation_p.D333Y|ATP2B4_ENST00000367219.3_Missense_Mutation_p.D321Y|ATP2B4_ENST00000391954.2_Missense_Mutation_p.D333Y|ATP2B4_ENST00000341360.2_Missense_Mutation_p.D333Y	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	333					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGAGGGAATCGACAATGAGGA	0.532																																																	0													108.0	98.0	101.0					1																	203672839		2203	4300	6503	SO:0001583	missense	0			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.997G>T	1.37:g.203672839G>T	ENSP00000350310:p.Asp333Tyr		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.D333Y	ENST00000357681.5	37	c.997	CCDS1440.1	1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177269	0.57692	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.93247	-3.19;-3.18;-3.19;-3.16;-3.18	6.17	5.26	0.73747	ATPase, P-type, ATPase-associated domain (1);	0.246163	0.29868	N	0.010988	D	0.95401	0.8507	L	0.54323	1.7	0.50039	D	0.999844	D;D;D	0.89917	0.999;0.984;1.0	D;P;D	0.91635	0.98;0.902;0.999	D	0.95051	0.8187	10	0.46703	T	0.11	-30.8825	14.2603	0.66080	0.0718:0.0:0.9282:0.0	.	333;333;333	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	Y	333;333;321;333;333	ENSP00000350310:D333Y;ENSP00000356187:D333Y;ENSP00000356188:D321Y;ENSP00000375816:D333Y;ENSP00000340930:D333Y	ENSP00000340930:D333Y	D	+	1	0	ATP2B4	201939462	1.000000	0.71417	0.173000	0.22940	0.223000	0.24884	9.853000	0.99521	1.620000	0.50308	0.655000	0.94253	GAC	ATP2B4	-	pfam_ATPase_P-typ_transduc_dom_A	ENSG00000058668		0.532	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1	-	0.00	34	0	G	NM_001001396		203672839	+1	tier1	-	no_errors	ENST00000357681	ensembl	human	known	74_37	missense	14.29	18	3	SNP	0.985	T
ATXN7	6314	genome.wustl.edu	37	3	63898558	63898558	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr3:63898558G>T	ENST00000295900.6	+	3	834	c.284G>T	c.(283-285)tGg>tTg	p.W95L	ATXN7_ENST00000538065.1_Missense_Mutation_p.W95L|ATXN7_ENST00000398590.3_Missense_Mutation_p.W95L|ATXN7_ENST00000487717.1_Missense_Mutation_p.W95L	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	95					cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GGACAGTCGTGGAATCTGTGG	0.692																																																	0													54.0	59.0	58.0					3																	63898558		2019	4179	6198	SO:0001583	missense	0			AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.284G>T	3.37:g.63898558G>T	ENSP00000295900:p.Trp95Leu		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	pfam_SCA7_dom	p.W95L	ENST00000295900.6	37	c.284	CCDS43102.1	3	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236397	0.58886	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000539129	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	4.17	3.29	0.37713	.	0.082708	0.52532	N	0.000064	T	0.50343	0.1610	M	0.66297	2.02	0.80722	D	1	B;D	0.63880	0.001;0.993	B;D	0.66196	0.002;0.942	T	0.52472	-0.8571	10	0.62326	D	0.03	-4.2505	13.3046	0.60345	0.0:0.0:0.8403:0.1597	.	95;95	O15265-2;O15265	.;ATX7_HUMAN	L	95	ENSP00000381590:W95L;ENSP00000295900:W95L;ENSP00000420234:W95L;ENSP00000439585:W95L	ENSP00000295900:W95L	W	+	2	0	ATXN7	63873598	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.361000	0.73070	0.729000	0.32403	-0.203000	0.12734	TGG	ATXN7	-	NULL	ENSG00000163635		0.692	ATXN7-001	KNOWN	basic|CCDS	protein_coding	ATXN7	HGNC	protein_coding	OTTHUMT00000352070.1	-	0.00	76	0	G	NM_000333		63898558	+1	tier1	-	no_errors	ENST00000398590	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T
BACH2	60468	genome.wustl.edu	37	6	90642291	90642291	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr6:90642291C>T	ENST00000257749.4	-	9	3069	c.2362G>A	c.(2362-2364)Gag>Aag	p.E788K	BACH2_ENST00000343122.3_Missense_Mutation_p.E788K|BACH2_ENST00000537989.1_Missense_Mutation_p.E788K	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	788						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GTACAATTCTCGGAGGTGTTG	0.632																																																	0																																										SO:0001583	missense	0			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.2362G>A	6.37:g.90642291C>T	ENSP00000257749:p.Glu788Lys		E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.E788K	ENST00000257749.4	37	c.2362	CCDS5026.1	6	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193093	0.38707	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.38401	1.14;1.14;1.14	5.51	5.51	0.81932	.	0.174143	0.49916	D	0.000126	T	0.21347	0.0514	L	0.54323	1.7	0.58432	D	0.999995	B	0.28880	0.226	B	0.17098	0.017	T	0.04607	-1.0939	10	0.21014	T	0.42	-0.0097	19.4133	0.94685	0.0:1.0:0.0:0.0	.	788	Q9BYV9	BACH2_HUMAN	K	788	ENSP00000257749:E788K;ENSP00000437473:E788K;ENSP00000345642:E788K	ENSP00000257749:E788K	E	-	1	0	BACH2	90699012	0.999000	0.42202	0.994000	0.49952	0.871000	0.50021	5.311000	0.65786	2.579000	0.87056	0.561000	0.74099	GAG	BACH2	-	NULL	ENSG00000112182		0.632	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BACH2	HGNC	protein_coding	OTTHUMT00000041522.2		0.00	33	0	C	NM_021813		90642291	-1			no_errors	ENST00000257749	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	T
BNIP2	663	genome.wustl.edu	37	15	59970196	59970196	+	Missense_Mutation	SNP	C	C	T	rs144319954		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr15:59970196C>T	ENST00000607373.1	-	5	588	c.386G>A	c.(385-387)cGc>cAc	p.R129H	BNIP2_ENST00000267859.3_Missense_Mutation_p.R250H|BNIP2_ENST00000415213.2_Missense_Mutation_p.R191H	NM_004330.2	NP_004321.2	Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	129					apoptotic process (GO:0006915)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|positive regulation of GTPase activity (GO:0043547)|positive regulation of muscle cell differentiation (GO:0051149)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						CATACGCCAGCGTCGTCCATC	0.418																																					Ovarian(174;1936 1978 6671 8240 38212)												0								C	HIS/ARG	0,4380		0,0,2190	158.0	142.0	147.0		749	5.7	1.0	15	dbSNP_134	147	1,8579	1.2+/-3.3	0,1,4289	no	missense	BNIP2	NM_004330.2	29	0,1,6479	TT,TC,CC		0.0117,0.0,0.0077	possibly-damaging	250/436	59970196	1,12959	2190	4290	6480	SO:0001583	missense	0			U15173	CCDS10174.2	15q21.3	2008-07-18	2002-08-29		ENSG00000140299	ENSG00000140299			1083	protein-coding gene	gene with protein product		603292	"""BCL2/adenovirus E1B 19kD-interacting protein 2"""			7954800	Standard	NM_004330		Approved	Nip2, BNIP-2	uc010uhc.2	Q12982	OTTHUMG00000132727	ENST00000607373.1:c.386G>A	15.37:g.59970196C>T	ENSP00000475320:p.Arg129His		B4DS94	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.R250H	ENST00000607373.1	37	c.749		15	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840316	0.91117	0.0	1.17E-4	ENSG00000140299	ENST00000267859;ENST00000415213;ENST00000439052	T;T;T	0.56103	1.1;1.11;0.48	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.43411	0.1246	N	0.25647	0.755	0.80722	D	1	P;P	0.40083	0.702;0.653	B;B	0.37780	0.258;0.254	T	0.23048	-1.0199	9	.	.	.	-2.2927	19.8753	0.96867	0.0:1.0:0.0:0.0	.	129;191	Q12982;Q12982-2	BNIP2_HUMAN;.	H	250;191;7	ENSP00000267859:R250H;ENSP00000412767:R191H;ENSP00000393644:R7H	.	R	-	2	0	BNIP2	57757488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.453000	0.60061	2.711000	0.92665	0.655000	0.94253	CGC	BNIP2	-	pfam_Bcl2-/adenovirus-E1B	ENSG00000140299		0.418	BNIP2-012	NOVEL	basic|appris_principal	protein_coding	BNIP2	HGNC	protein_coding	OTTHUMT00000470740.1	-	0.00	34	0	C	NM_004330		59970196	-1	tier1	rs144319954	no_errors	ENST00000267859	ensembl	human	known	74_37	missense	17.02	39	8	SNP	1.000	T
BRINP2	57795	genome.wustl.edu	37	1	177250911	177250911	+	3'UTR	SNP	C	C	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:177250911C>A	ENST00000361539.4	+	0	2911				BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2						cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											AGCCTCAGATCTGTAAAGTTG	0.458																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.*247C>A	1.37:g.177250911C>A			O95560|Q6ZWC1|Q7LCZ9|Q8N360	RNA	SNP	-	NULL	ENST00000361539.4	37	NULL	CCDS1320.1	1																																																																																			BRINP2	-	-	ENSG00000198797		0.458	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP2	HGNC	protein_coding	OTTHUMT00000084599.1	-	0.00	38	0	C	NM_021165		177250911	+1	tier1	-	no_errors	ENST00000478325	ensembl	human	known	74_37	rna	16.39	51	10	SNP	0.091	A
C12orf66	144577	genome.wustl.edu	37	12	64609541	64609541	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr12:64609541C>A	ENST00000398055.3	-	2	491	c.438G>T	c.(436-438)atG>atT	p.M146I	C12orf66_ENST00000311915.8_Missense_Mutation_p.M146I|C12orf66_ENST00000544871.1_Missense_Mutation_p.M93I	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	146										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						TGAGGGTGTACATCTTCTCAT	0.507																																																	0													76.0	73.0	74.0					12																	64609541		2001	4185	6186	SO:0001583	missense	0				CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.438G>T	12.37:g.64609541C>A	ENSP00000381132:p.Met146Ile		C9JX54|Q8IYA0	Missense_Mutation	SNP	pfam_DUF2003	p.M146I	ENST00000398055.3	37	c.438	CCDS41803.1	12	.	.	.	.	.	.	.	.	.	.	C	20.2	3.958063	0.73902	.	.	ENSG00000174206	ENST00000311915;ENST00000544871;ENST00000398055	T;T;T	0.43688	0.94;0.94;0.94	5.95	5.95	0.96441	.	0.034571	0.85682	D	0.000000	T	0.50463	0.1617	L	0.60455	1.87	0.80722	D	1	B;P	0.38978	0.426;0.652	B;B	0.44224	0.085;0.444	T	0.33343	-0.9872	9	.	.	.	-28.9084	20.3719	0.98893	0.0:1.0:0.0:0.0	.	93;146	F5H2Q3;Q96MD2	.;CL066_HUMAN	I	146;93;146	ENSP00000311486:M146I;ENSP00000445481:M93I;ENSP00000381132:M146I	.	M	-	3	0	C12orf66	62895808	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.801000	0.69115	2.826000	0.97356	0.491000	0.48974	ATG	C12orf66	-	pfam_DUF2003	ENSG00000174206		0.507	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf66	HGNC	protein_coding	OTTHUMT00000400921.1	-	0.00	61	0	C	NM_152440		64609541	-1	tier1	-	no_errors	ENST00000398055	ensembl	human	known	74_37	missense	16.05	68	13	SNP	1.000	A
C17orf62	79415	genome.wustl.edu	37	17	80407052	80407052	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr17:80407052G>T	ENST00000437807.2	-	3	396	c.79C>A	c.(79-81)Ctg>Atg	p.L27M	C17orf62_ENST00000578919.1_Missense_Mutation_p.L27M|C17orf62_ENST00000578913.1_Missense_Mutation_p.L27M|C17orf62_ENST00000336995.7_De_novo_Start_OutOfFrame|C17orf62_ENST00000342572.8_Intron|C17orf62_ENST00000434650.2_Missense_Mutation_p.L27M|C17orf62_ENST00000306645.5_Missense_Mutation_p.L27M|C17orf62_ENST00000577436.1_Missense_Mutation_p.L27M|C17orf62_ENST00000583617.1_Missense_Mutation_p.L27M|C17orf62_ENST00000585080.1_Missense_Mutation_p.L27M|C17orf62_ENST00000577732.1_Missense_Mutation_p.L27M|C17orf62_ENST00000585064.1_Missense_Mutation_p.L27M|C17orf62_ENST00000583359.1_5'UTR	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	27						integral component of membrane (GO:0016021)				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TTACCAACCAGCAGGGACCAG	0.547																																																	0													31.0	27.0	28.0					17																	80407052		2189	4296	6485	SO:0001583	missense	0			AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927			28672	protein-coding gene	gene with protein product							Standard	NM_001100407		Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000437807.2:c.79C>A	17.37:g.80407052G>T	ENSP00000388909:p.Leu27Met		E1B6X3|Q96NR1	Missense_Mutation	SNP	NULL	p.L27M	ENST00000437807.2	37	c.79	CCDS32776.1	17	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714158	0.68730	.	.	ENSG00000178927	ENST00000437807;ENST00000306645;ENST00000434650	.	.	.	4.01	2.0	0.26442	.	.	.	.	.	T	0.66626	0.2808	M	0.70275	2.135	0.80722	D	1	D;D	0.61080	0.989;0.98	P;P	0.58928	0.848;0.804	T	0.65088	-0.6253	8	0.72032	D	0.01	.	7.8844	0.29642	0.2716:0.0:0.7284:0.0	.	27;27	E1B6X3;Q9BQA9	.;CQ062_HUMAN	M	27	.	ENSP00000307765:L27M	L	-	1	2	C17orf62	78000341	1.000000	0.71417	0.946000	0.38457	0.989000	0.77384	3.507000	0.53371	0.197000	0.20387	0.491000	0.48974	CTG	C17orf62	-	NULL	ENSG00000178927		0.547	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C17orf62	HGNC	protein_coding	OTTHUMT00000443260.1	-	0.00	50	0	G	NM_001033046		80407052	-1	tier1	-	no_errors	ENST00000306645	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.994	T
ZGRF1	55345	genome.wustl.edu	37	4	113506828	113506828	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr4:113506828A>G	ENST00000505019.1	-	14	4095	c.3970T>C	c.(3970-3972)Tca>Cca	p.S1324P		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1324						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TCAACTTTTGAAAGAGCTTTC	0.308																																																	0													80.0	78.0	79.0					4																	113506828		2203	4299	6502	SO:0001583	missense	0																														ENST00000505019.1:c.3970T>C	4.37:g.113506828A>G	ENSP00000424737:p.Ser1324Pro		B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase	p.S1324P	ENST00000505019.1	37	c.3970		4	.	.	.	.	.	.	.	.	.	.	A	16.52	3.145553	0.57044	.	.	ENSG00000138658	ENST00000505019	D	0.82984	-1.67	5.65	3.11	0.35812	.	0.267337	0.26341	N	0.024940	D	0.83631	0.5296	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	P	0.62491	0.903	T	0.80379	-0.1407	10	0.35671	T	0.21	-20.9568	12.8693	0.57957	0.6106:0.3894:0.0:0.0	.	1324	G5EA02	.	P	1324	ENSP00000424737:S1324P	ENSP00000404365:S222P	S	-	1	0	C4orf21	113726277	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	2.470000	0.45119	0.369000	0.24510	0.528000	0.53228	TCA	C4orf21	-	NULL	ENSG00000138658		0.308	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	-	0.00	42	0	A			113506828	-1	tier1	-	no_errors	ENST00000505019	ensembl	human	known	74_37	missense	16.67	35	7	SNP	0.973	G
C9orf43	257169	genome.wustl.edu	37	9	116186500	116186500	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr9:116186500G>T	ENST00000288462.4	+	8	1157	c.711G>T	c.(709-711)ttG>ttT	p.L237F	C9orf43_ENST00000374165.1_Missense_Mutation_p.L237F	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	237										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						AGATAAAATTGGCCATGATGA	0.458																																																	0													174.0	179.0	178.0					9																	116186500		2203	4300	6503	SO:0001583	missense	0			BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.711G>T	9.37:g.116186500G>T	ENSP00000288462:p.Leu237Phe			Missense_Mutation	SNP	NULL	p.L237F	ENST00000288462.4	37	c.711	CCDS6796.1	9	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008308	0.35415	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.65178	-0.14;-0.14	4.33	2.5	0.30297	.	0.000000	0.36854	N	0.002369	T	0.64918	0.2642	L	0.34521	1.04	0.29210	N	0.874646	D	0.89917	1.0	D	0.97110	1.0	T	0.58803	-0.7572	10	0.87932	D	0	-9.6532	6.7319	0.23388	0.1988:0.0:0.8012:0.0	.	237	Q8TAL5	CI043_HUMAN	F	237	ENSP00000363280:L237F;ENSP00000288462:L237F	ENSP00000288462:L237F	L	+	3	2	C9orf43	115226321	0.999000	0.42202	0.780000	0.31762	0.253000	0.25986	1.507000	0.35758	0.768000	0.33290	0.563000	0.77884	TTG	C9orf43	-	NULL	ENSG00000157653		0.458	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C9orf43	HGNC	protein_coding	OTTHUMT00000053739.1	-	0.00	21	0	G	NM_152786		116186500	+1	tier1	-	no_errors	ENST00000288462	ensembl	human	known	74_37	missense	14.89	40	7	SNP	0.867	T
CAPN6	827	genome.wustl.edu	37	X	110495711	110495711	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chrX:110495711C>A	ENST00000324068.1	-	5	690	c.523G>T	c.(523-525)Gag>Tag	p.E175*	CAPN6_ENST00000541758.1_Intron	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	175	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TCCAGGGCCTCATAACAGCCT	0.428																																																	0													91.0	74.0	80.0					X																	110495711		2203	4300	6503	SO:0001587	stop_gained	0			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.523G>T	X.37:g.110495711C>A	ENSP00000317214:p.Glu175*		D3DUY7|Q9UEQ1|Q9UJA8	Nonsense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.E175*	ENST00000324068.1	37	c.523	CCDS14555.1	X	.	.	.	.	.	.	.	.	.	.	C	39	7.692425	0.98438	.	.	ENSG00000077274	ENST00000324068	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9715	0.92716	0.0:1.0:0.0:0.0	.	.	.	.	X	175	.	ENSP00000317214:E175X	E	-	1	0	CAPN6	110382367	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.954000	0.63631	2.527000	0.85204	0.600000	0.82982	GAG	CAPN6	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	ENSG00000077274		0.428	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN6	HGNC	protein_coding	OTTHUMT00000057922.1	-	0.00	19	0	C			110495711	-1	tier1	-	no_errors	ENST00000324068	ensembl	human	known	74_37	nonsense	19.51	33	8	SNP	1.000	A
CCDC62	84660	genome.wustl.edu	37	12	123282748	123282748	+	Splice_Site	SNP	G	G	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr12:123282748G>T	ENST00000253079.6	+	8	1321		c.e8+1		CCDC62_ENST00000392441.4_Splice_Site|CCDC62_ENST00000392440.2_Splice_Site|CCDC62_ENST00000537566.1_Splice_Site	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62						cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TGGACTCCAGGTAATCTTAGC	0.378																																																	0													52.0	52.0	52.0					12																	123282748		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.977+1G>T	12.37:g.123282748G>T			A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Splice_Site	SNP	-	e8+1	ENST00000253079.6	37	c.977+1	CCDS9238.1	12	.	.	.	.	.	.	.	.	.	.	.	16.09	3.025226	0.54683	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000537566;ENST00000392440	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.485	0.61359	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC62	121848701	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	4.649000	0.61433	2.257000	0.74773	0.637000	0.83480	.	CCDC62	-	-	ENSG00000130783		0.378	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC62	HGNC	protein_coding	OTTHUMT00000400930.1		0.00	34	0	G	NM_032573	Intron	123282748	+1			no_errors	ENST00000253079	ensembl	human	known	74_37	splice_site	5.13	37	2	SNP	1.000	T
CDH22	64405	genome.wustl.edu	37	20	44856175	44856175	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr20:44856175C>A	ENST00000372262.3	-	3	1042	c.642G>T	c.(640-642)gaG>gaT	p.E214D	CDH22_ENST00000537909.1_Missense_Mutation_p.E214D	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	214	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TGAAGTGGTGCTCGCCGTCCA	0.736																																																	0													25.0	21.0	23.0					20																	44856175		2203	4298	6501	SO:0001583	missense	0			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.642G>T	20.37:g.44856175C>A	ENSP00000361336:p.Glu214Asp		B9EGK7|O43205	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E214D	ENST00000372262.3	37	c.642	CCDS13395.1	20	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386366	0.82902	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.52295	0.67;0.67	5.14	3.22	0.36961	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.48960	0.1529	N	0.20610	0.595	0.43058	D	0.994676	D	0.69078	0.997	D	0.65773	0.938	T	0.52003	-0.8633	10	0.87932	D	0	.	10.332	0.43829	0.0:0.8431:0.0:0.1569	.	214	Q9UJ99	CAD22_HUMAN	D	214	ENSP00000361336:E214D;ENSP00000437790:E214D	ENSP00000361336:E214D	E	-	3	2	CDH22	44289582	0.995000	0.38212	1.000000	0.80357	0.962000	0.63368	0.566000	0.23593	0.748000	0.32831	0.563000	0.77884	GAG	CDH22	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000149654		0.736	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH22	HGNC	protein_coding	OTTHUMT00000080491.1	-	0.00	42	0	C	NM_021248		44856175	-1	tier1	-	no_errors	ENST00000372262	ensembl	human	known	74_37	missense	22.64	41	12	SNP	0.998	A
CENPT	80152	genome.wustl.edu	37	16	67865492	67865492	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr16:67865492A>G	ENST00000562787.1	-	9	1095	c.547T>C	c.(547-549)Tct>Cct	p.S183P	CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000440851.2_Missense_Mutation_p.S183P|CENPT_ENST00000445712.2_Missense_Mutation_p.S80P|CENPT_ENST00000564817.1_Missense_Mutation_p.S183P|CENPT_ENST00000219172.3_Missense_Mutation_p.S183P	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	183	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GTGAGGGAAGAGGCATCAGCA	0.557																																																	0													84.0	91.0	89.0					16																	67865492		2012	4175	6187	SO:0001583	missense	0			AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.547T>C	16.37:g.67865492A>G	ENSP00000457810:p.Ser183Pro		Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	superfamily_Histone-fold	p.S183P	ENST00000562787.1	37	c.547	CCDS42182.1	16	.	.	.	.	.	.	.	.	.	.	A	19.05	3.752452	0.69533	.	.	ENSG00000102901	ENST00000440851;ENST00000219172;ENST00000445712	T;T;T	0.60672	0.17;0.17;0.17	5.87	3.66	0.41972	.	0.334600	0.29737	N	0.011321	T	0.54791	0.1880	M	0.74881	2.28	0.09310	N	0.999991	B;B;B	0.29115	0.197;0.233;0.197	B;B;B	0.30716	0.119;0.104;0.119	T	0.51419	-0.8708	10	0.46703	T	0.11	-6.8478	7.5152	0.27596	0.8324:0.0:0.1676:0.0	.	80;183;183	B4DMP9;Q96BT3;B3KPB2	.;CENPT_HUMAN;.	P	183;183;80	ENSP00000400140:S183P;ENSP00000219172:S183P;ENSP00000411594:S80P	ENSP00000219172:S183P	S	-	1	0	CENPT	66422993	0.200000	0.23398	0.874000	0.34290	0.687000	0.40016	0.832000	0.27490	0.583000	0.29574	0.533000	0.62120	TCT	CENPT	-	NULL	ENSG00000102901		0.557	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPT	HGNC	protein_coding	OTTHUMT00000422020.1		0.00	16	0	A	NM_025082		67865492	-1			no_errors	ENST00000219172	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.098	G
CERS5	91012	genome.wustl.edu	37	12	50531578	50531578	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr12:50531578T>C	ENST00000317551.6	-	6	693	c.569A>G	c.(568-570)tAt>tGt	p.Y190C	CERS5_ENST00000422340.2_Missense_Mutation_p.Y132C	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	190	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CATGATATAATAGTGATAAAG	0.413																																																	0													98.0	96.0	97.0					12																	50531578		2203	4300	6503	SO:0001583	missense	0				CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"""Homeoboxes / CERS class"""	23749	protein-coding gene	gene with protein product		615335	"""LAG1 longevity assurance homolog 5 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 5"""	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.569A>G	12.37:g.50531578T>C	ENSP00000325485:p.Tyr190Cys		B4DV54	Missense_Mutation	SNP	pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom	p.Y190C	ENST00000317551.6	37	c.569	CCDS8801.1	12	.	.	.	.	.	.	.	.	.	.	T	20.0	3.931107	0.73327	.	.	ENSG00000139624	ENST00000551005;ENST00000317551;ENST00000422340	D;D;D	0.88509	-2.39;-2.39;-2.39	5.14	5.14	0.70334	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95971	0.8688	H	0.94264	3.515	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.91635	0.997;0.984;0.999	D	0.97111	0.9804	10	0.87932	D	0	-14.1322	15.4337	0.75125	0.0:0.0:0.0:1.0	.	132;190;109	B4DV54;Q8N5B7;F8W0U5	.;CERS5_HUMAN;.	C	109;190;132	ENSP00000447556:Y109C;ENSP00000325485:Y190C;ENSP00000389050:Y132C	ENSP00000325485:Y190C	Y	-	2	0	CERS5	48817845	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	7.841000	0.86834	2.291000	0.77112	0.533000	0.62120	TAT	CERS5	-	pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom	ENSG00000139624		0.413	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CERS5	HGNC	protein_coding	OTTHUMT00000406069.3	-	0.00	35	0	T	NM_147190		50531578	-1	tier1	-	no_errors	ENST00000317551	ensembl	human	known	74_37	missense	23.08	30	9	SNP	1.000	C
CERS6	253782	genome.wustl.edu	37	2	169626102	169626102	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr2:169626102C>T	ENST00000305747.6	+	10	1672	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V	CERS6-AS1_ENST00000425636.2_RNA|CERS6_ENST00000392687.4_Missense_Mutation_p.A370V	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	362					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CCCCACACTGCGACAACCACC	0.498																																																	0													100.0	97.0	98.0					2																	169626102		2203	4300	6503	SO:0001583	missense	0			BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"""Homeoboxes / CERS class"""	23826	protein-coding gene	gene with protein product		615336	"""LAG1 longevity assurance homolog 6 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 6"""	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.1085C>T	2.37:g.169626102C>T	ENSP00000306579:p.Ala362Val		Q32M63|Q8N617	Missense_Mutation	SNP	pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom	p.A370V	ENST00000305747.6	37	c.1109	CCDS2228.1	2	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590321	0.66105	.	.	ENSG00000172292	ENST00000305747;ENST00000392687	T;T	0.12039	2.89;2.72	5.97	5.09	0.68999	.	0.534882	0.23141	N	0.051474	T	0.09202	0.0227	N	0.13235	0.315	0.09310	N	0.999999	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.22243	-1.0222	10	0.27785	T	0.31	0.1654	14.6038	0.68463	0.0:0.9304:0.0:0.0696	.	370;362	Q32M63;Q6ZMG9	.;CERS6_HUMAN	V	362;370	ENSP00000306579:A362V;ENSP00000376453:A370V	ENSP00000306579:A362V	A	+	2	0	CERS6	169334348	0.023000	0.18921	0.687000	0.30102	0.992000	0.81027	2.794000	0.47853	2.831000	0.97527	0.655000	0.94253	GCG	CERS6	-	pirsf_Longevity_assurance_LAG1_LAC1	ENSG00000172292		0.498	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERS6	HGNC	protein_coding	OTTHUMT00000255235.2		0.00	38	0	C	NM_203463		169626102	+1			no_errors	ENST00000392687	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.233	T
CFDP1	10428	genome.wustl.edu	37	16	75327732	75327732	+	3'UTR	DEL	A	A	-	rs149574560		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr16:75327732delA	ENST00000283882.3	-	0	1150					NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1						cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|negative regulation of fibroblast apoptotic process (GO:2000270)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						TTCAATGTAGAAAAAAAAAAG	0.303																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB009285	CCDS10916.1	16q22.2-q22.3	2011-08-12			ENSG00000153774	ENSG00000153774			1873	protein-coding gene	gene with protein product	"""Bucentaur"", ""centromere protein 29"""	608108				9602175, 9006920, 11992732	Standard	NM_006324		Approved	BCNT, p97, CP27, SWC5, Yeti, CENP-29	uc002fdy.3	Q9UEE9	OTTHUMG00000137615	ENST00000283882.3:c.*118T>-	16.37:g.75327732delA			O00393|O00404|Q9UEF0|Q9UEF1|Q9UEF8	RNA	DEL	-	NULL	ENST00000283882.3	37	NULL	CCDS10916.1	16																																																																																			CFDP1	-	-	ENSG00000153774		0.303	CFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFDP1	HGNC	protein_coding	OTTHUMT00000269031.2		0.00	16	0	A	NM_006324		75327732	-1	tier1		no_errors	ENST00000570103	ensembl	human	known	74_37	rna	15.00	17	3	DEL	0.940	-
CIR1	9541	genome.wustl.edu	37	2	175213649	175213649	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr2:175213649T>C	ENST00000342016.3	-	10	1021	c.929A>G	c.(928-930)aAg>aGg	p.K310R	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	310	Lys/Ser-rich.				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						AGACTTGTCCTTCTCTTCAGA	0.373																																																	0													176.0	178.0	177.0					2																	175213649		2203	4300	6503	SO:0001583	missense	0			AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"""recepin"", ""CBF1 interacting corepressor"""	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.929A>G	2.37:g.175213649T>C	ENSP00000339723:p.Lys310Arg		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Missense_Mutation	SNP	pfam_CIR_N_dom,superfamily_Znf_CCHC	p.K310R	ENST00000342016.3	37	c.929	CCDS2256.1	2	.	.	.	.	.	.	.	.	.	.	T	7.699	0.692671	0.15039	.	.	ENSG00000138433	ENST00000342016	.	.	.	5.16	-2.28	0.06826	.	1.043300	0.07461	N	0.900616	T	0.30727	0.0774	L	0.42245	1.32	0.09310	N	0.999997	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.28681	-1.0036	9	0.34782	T	0.22	.	5.9791	0.19397	0.0:0.3147:0.1283:0.5571	.	310;310	A0PJI7;Q86X95	.;CIR1_HUMAN	R	310	.	ENSP00000339723:K310R	K	-	2	0	CIR1	174921895	0.833000	0.29383	0.060000	0.19600	0.790000	0.44656	0.679000	0.25291	-0.323000	0.08602	-0.263000	0.10527	AAG	CIR1	-	NULL	ENSG00000138433		0.373	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIR1	HGNC	protein_coding	OTTHUMT00000255460.1	-	0.00	32	0	T	NM_004882		175213649	-1	tier1	-	no_errors	ENST00000342016	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.093	C
COL15A1	1306	genome.wustl.edu	37	9	101811974	101811974	+	Silent	SNP	C	C	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr9:101811974C>T	ENST00000375001.3	+	29	3219	c.2796C>T	c.(2794-2796)ggC>ggT	p.G932G		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	932	Triple-helical region 5 (COL5).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCCTTCAGGGCCCACCTGGCT	0.557																																																	0													62.0	62.0	62.0					9																	101811974		2203	4300	6503	SO:0001819	synonymous_variant	0			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2796C>T	9.37:g.101811974C>T			Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.G932	ENST00000375001.3	37	c.2796	CCDS35081.1	9																																																																																			COL15A1	-	superfamily_C-type_lectin_fold	ENSG00000204291		0.557	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	HGNC	protein_coding	OTTHUMT00000053386.3	-	0.00	57	0	C	NM_001855		101811974	+1	tier1	-	no_errors	ENST00000375001	ensembl	human	known	74_37	silent	37.70	38	23	SNP	0.945	T
COL2A1	1280	genome.wustl.edu	37	12	48391685	48391685	+	Missense_Mutation	SNP	G	G	A	rs201234519		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr12:48391685G>A	ENST00000380518.3	-	6	562	c.398C>T	c.(397-399)cCc>cTc	p.P133L	COL2A1_ENST00000337299.6_Missense_Mutation_p.P64L	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	133					axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ATCCCCTCTGGGTCCTTGTTC	0.552																																																	0													166.0	181.0	176.0					12																	48391685		2203	4300	6503	SO:0001583	missense	0			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.398C>T	12.37:g.48391685G>A	ENSP00000369889:p.Pro133Leu		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.P133L	ENST00000380518.3	37	c.398	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357536	0.82243	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.94862	-3.54;-3.54	5.09	5.09	0.68999	.	0.064498	0.64402	D	0.000008	D	0.92773	0.7702	L	0.45285	1.41	0.80722	D	1	B;B	0.30851	0.253;0.297	B;B	0.35413	0.128;0.202	D	0.91955	0.5574	10	0.72032	D	0.01	.	17.8084	0.88608	0.0:0.0:1.0:0.0	.	64;133	P02458-1;P02458	.;CO2A1_HUMAN	L	133;64;64	ENSP00000369889:P133L;ENSP00000338213:P64L	ENSP00000338213:P64L	P	-	2	0	COL2A1	46677952	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.233000	0.58651	2.820000	0.97059	0.650000	0.86243	CCC	COL2A1	-	pfam_Collagen	ENSG00000139219		0.552	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	-	0.00	20	0	G	NM_001844		48391685	-1	tier1	-	no_errors	ENST00000380518	ensembl	human	known	74_37	missense	27.59	21	8	SNP	1.000	A
COL8A1	1295	genome.wustl.edu	37	3	99514062	99514062	+	Missense_Mutation	SNP	G	G	T	rs369684623		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr3:99514062G>T	ENST00000261037.3	+	5	1697	c.1317G>T	c.(1315-1317)aaG>aaT	p.K439N	COL8A1_ENST00000273342.4_Missense_Mutation_p.K439N	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	439	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						TCCCAGGAAAGCCAGGTTTCC	0.592																																																	0													37.0	35.0	36.0					3																	99514062		2202	4300	6502	SO:0001583	missense	0			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1317G>T	3.37:g.99514062G>T	ENSP00000261037:p.Lys439Asn		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.K439N	ENST00000261037.3	37	c.1317	CCDS2934.1	3	.	.	.	.	.	.	.	.	.	.	G	12.28	1.889134	0.33348	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.93604	-3.25;-3.25	5.95	4.97	0.65823	.	0.159108	0.56097	D	0.000040	D	0.85944	0.5815	L	0.39085	1.19	0.44908	D	0.997925	P;P	0.44734	0.842;0.675	B;B	0.38428	0.273;0.203	T	0.81711	-0.0808	10	0.26408	T	0.33	.	4.4838	0.11780	0.1246:0.0:0.6523:0.2231	.	440;439	E7EPK9;P27658	.;CO8A1_HUMAN	N	439	ENSP00000261037:K439N;ENSP00000273342:K439N	ENSP00000261037:K439N	K	+	3	2	COL8A1	100996752	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.154000	0.31688	2.817000	0.96982	0.563000	0.77884	AAG	COL8A1	-	pfam_Collagen	ENSG00000144810		0.592	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL8A1	HGNC	protein_coding	OTTHUMT00000309001.1	-	0.00	46	0	G	NM_001850		99514062	+1	tier1	-	no_errors	ENST00000261037	ensembl	human	known	74_37	missense	16.67	55	11	SNP	1.000	T
COL6A6	131873	genome.wustl.edu	37	3	130325811	130325811	+	Splice_Site	SNP	G	G	T	rs533837767		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr3:130325811G>T	ENST00000358511.6	+	20	4720		c.e20+1		COL6A6_ENST00000453409.2_Splice_Site	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6						cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGGCCCACAGGTACAATGATT	0.358																																																	0													82.0	78.0	79.0					3																	130325811		1849	4089	5938	SO:0001630	splice_region_variant	0			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.4689+1G>T	3.37:g.130325811G>T			A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Splice_Site	SNP	-	e20+1	ENST00000358511.6	37	c.4689+1	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628758	0.46944	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6146	0.68539	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL6A6	131808501	1.000000	0.71417	0.998000	0.56505	0.482000	0.33219	4.676000	0.61627	2.530000	0.85305	0.655000	0.94253	.	COL6A6	-	-	ENSG00000206384		0.358	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	-	0.00	41	0	G	NM_001102608	Intron	130325811	+1	tier1	-	no_errors	ENST00000358511	ensembl	human	known	74_37	splice_site	8.00	46	4	SNP	1.000	T
CTNNA2	1496	genome.wustl.edu	37	2	80085292	80085292	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr2:80085292C>T	ENST00000402739.4	+	3	457	c.452C>T	c.(451-453)tCc>tTc	p.S151F	CTNNA2_ENST00000496558.1_Missense_Mutation_p.S151F|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S185F|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S151F|CTNNA2_ENST00000466387.1_Missense_Mutation_p.S151F|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S151F	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	151					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGACTTTTATCCCATCTGAAA	0.483																																																	0													60.0	59.0	60.0					2																	80085292		2008	4171	6179	SO:0001583	missense	0				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.452C>T	2.37:g.80085292C>T	ENSP00000384638:p.Ser151Phe		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.S185F	ENST00000402739.4	37	c.554		2	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122197	0.56613	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16	5.67	5.67	0.87782	.	0.385949	0.26742	N	0.022722	T	0.27278	0.0669	N	0.19112	0.55	0.45914	D	0.998757	B;B;B	0.17038	0.002;0.02;0.02	B;B;B	0.24848	0.016;0.056;0.056	T	0.05338	-1.0891	10	0.51188	T	0.08	.	13.0205	0.58784	0.0:0.9269:0.0:0.0731	.	151;151;151	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	F	151;151;185;151;151;151	ENSP00000418191:S151F;ENSP00000419295:S151F;ENSP00000355398:S185F;ENSP00000384638:S151F;ENSP00000444675:S151F;ENSP00000441705:S151F	ENSP00000355398:S185F	S	+	2	0	CTNNA2	79938800	1.000000	0.71417	0.981000	0.43875	0.975000	0.68041	3.143000	0.50608	2.677000	0.91161	0.655000	0.94253	TCC	CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000066032		0.483	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	-	0.00	36	0	C	NM_004389		80085292	+1	tier1	-	no_errors	ENST00000361291	ensembl	human	known	74_37	missense	17.31	43	9	SNP	0.969	T
CYFIP2	26999	genome.wustl.edu	37	5	156747664	156747664	+	Splice_Site	SNP	G	G	T	rs372630008		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr5:156747664G>T	ENST00000521420.1	+	14	1538	c.1447G>T	c.(1447-1449)Gtc>Ttc	p.V483F	CYFIP2_ENST00000435847.2_Splice_Site_p.V183F|CYFIP2_ENST00000541131.1_Splice_Site_p.V434F|CYFIP2_ENST00000522463.1_Splice_Site_p.V313F|CYFIP2_ENST00000318218.6_Splice_Site_p.V509F|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000347377.6_Splice_Site_p.V509F|CYFIP2_ENST00000377576.3_Splice_Site_p.V509F					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTCCCCAGCGTCCTACAGGC	0.542																																																	0													56.0	56.0	56.0					5																	156747664		1966	4138	6104	SO:0001630	splice_region_variant	0			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1446-1G>T	5.37:g.156747664G>T				Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.V509F	ENST00000521420.1	37	c.1525		5	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660281	0.88154	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.64	5.64	0.86602	.	0.109027	0.64402	D	0.000007	T	0.64338	0.2589	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D	0.69078	0.989;0.997;0.992;0.997;0.99;0.987	D;D;D;D;D;D	0.73708	0.923;0.981;0.932;0.966;0.94;0.962	T	0.65253	-0.6213	10	0.72032	D	0.01	-37.2044	19.7154	0.96115	0.0:0.0:1.0:0.0	.	373;313;483;509;509;509	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	F	509;313;483;509;509;434;183	ENSP00000325817:V509F;ENSP00000428009:V313F;ENSP00000430904:V483F;ENSP00000313567:V509F;ENSP00000366799:V509F;ENSP00000444645:V434F;ENSP00000403793:V183F	ENSP00000325817:V509F	V	+	1	0	CYFIP2	156680242	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	9.814000	0.99346	2.664000	0.90586	0.655000	0.94253	GTC	CYFIP2	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000055163		0.542	CYFIP2-001	NOVEL	basic	protein_coding	CYFIP2	HGNC	protein_coding	OTTHUMT00000373710.1		0.00	49	0	G	NM_001037332	Missense_Mutation	156747664	+1			no_errors	ENST00000318218	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	T
DCC	1630	genome.wustl.edu	37	18	50278474	50278474	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr18:50278474G>T	ENST00000442544.2	+	2	758	c.142G>T	c.(142-144)Gat>Tat	p.D48Y	DCC_ENST00000412726.1_5'Flank	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	48	Ig-like C2-type 1.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.D48H(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGAACCTTCTGATGCCGTCAC	0.473																																																	1	Substitution - Missense(1)	lung(1)											57.0	58.0	57.0					18																	50278474		2203	4300	6503	SO:0001583	missense	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.142G>T	18.37:g.50278474G>T	ENSP00000389140:p.Asp48Tyr			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D48Y	ENST00000442544.2	37	c.142	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885154	0.91814	.	.	ENSG00000187323	ENST00000442544	T	0.01725	4.67	5.66	5.66	0.87406	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.15219	0.0367	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00243	-1.1884	10	0.87932	D	0	.	18.5252	0.90969	0.0:0.0:1.0:0.0	.	48	P43146	DCC_HUMAN	Y	48	ENSP00000389140:D48Y	ENSP00000389140:D48Y	D	+	1	0	DCC	48532472	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	9.457000	0.97630	2.676000	0.91093	0.655000	0.94253	GAT	DCC	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000187323		0.473	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3		0.00	34	0	G	NM_005215		50278474	+1			no_errors	ENST00000442544	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	T
DLK2	65989	genome.wustl.edu	37	6	43418528	43418529	+	Frame_Shift_Ins	INS	-	-	AA	rs35192247	byFrequency	TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr6:43418528_43418529insAA	ENST00000357338.3	-	6	1600_1601	c.900_901insTT	c.(898-903)gctgggfs	p.G301fs	DLK2_ENST00000414245.1_Frame_Shift_Ins_p.G295fs|DLK2_ENST00000372485.1_Frame_Shift_Ins_p.G295fs|DLK2_ENST00000372488.3_Frame_Shift_Ins_p.G301fs	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	301			G -> R (in dbSNP:rs35192247).		negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCACCTAGCCCAGCCTCTTGCC	0.668																																																	0																																										SO:0001589	frameshift_variant	0			AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"""EGF-like-domain, multiple 9"""	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.900_901insTT	6.37:g.43418528_43418529insAA	ENSP00000349893:p.Gly301fs		B3KNZ7|Q5T3T8|Q9BQ54	Frame_Shift_Ins	INS	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G300fs	ENST00000357338.3	37	c.901_900	CCDS4897.1	6																																																																																			DLK2	-	NULL	ENSG00000171462		0.668	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DLK2	HGNC	protein_coding	OTTHUMT00000040618.1		0.00	11	0	-	NM_023932		43418529	-1	tier1		no_errors	ENST00000357338	ensembl	human	known	74_37	frame_shift_ins	15.79	16	3	INS	0.909:0.004	AA
DPP7	29952	genome.wustl.edu	37	9	140007735	140007735	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr9:140007735A>T	ENST00000371579.2	-	6	630	c.626T>A	c.(625-627)tTt>tAt	p.F209Y		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	209						cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		CTGGCCCTCAAAGTCCTGGGG	0.627																																																	0													59.0	61.0	60.0					9																	140007735		2202	4300	6502	SO:0001583	missense	0			AF154502	CCDS7030.1	9q34.3	2008-02-05	2006-01-12		ENSG00000176978	ENSG00000176978			14892	protein-coding gene	gene with protein product		610537	"""dipeptidylpeptidase 7"""			10477574, 11139392	Standard	XM_005266075		Approved	DPPII	uc004clh.3	Q9UHL4	OTTHUMG00000020977	ENST00000371579.2:c.626T>A	9.37:g.140007735A>T	ENSP00000360635:p.Phe209Tyr		A8K7U7|Q5VSF1|Q969X4	Missense_Mutation	SNP	pfam_Peptidase_S28,pfam_AB_hydrolase_1	p.F209Y	ENST00000371579.2	37	c.626	CCDS7030.1	9	.	.	.	.	.	.	.	.	.	.	A	22.0	4.227120	0.79576	.	.	ENSG00000176978	ENST00000371579	T	0.13778	2.56	5.11	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.21962	0.0529	M	0.64260	1.97	0.45852	D	0.998718	P	0.46656	0.882	P	0.51866	0.682	T	0.01102	-1.1451	10	0.30078	T	0.28	-13.7172	9.6369	0.39814	0.8247:0.1753:0.0:0.0	.	209	Q9UHL4	DPP2_HUMAN	Y	209	ENSP00000360635:F209Y	ENSP00000360635:F209Y	F	-	2	0	DPP7	139127556	0.968000	0.33430	0.793000	0.32043	0.752000	0.42762	2.207000	0.42788	1.941000	0.56285	0.459000	0.35465	TTT	DPP7	-	pfam_Peptidase_S28,pfam_AB_hydrolase_1	ENSG00000176978		0.627	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP7	HGNC	protein_coding	OTTHUMT00000055279.1	-	0.00	74	0	A	NM_013379		140007735	-1	tier1	-	no_errors	ENST00000371579	ensembl	human	known	74_37	missense	11.48	108	14	SNP	0.978	T
DSG1	1828	genome.wustl.edu	37	18	28911754	28911754	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr18:28911754C>A	ENST00000257192.4	+	6	820	c.608C>A	c.(607-609)cCt>cAt	p.P203H		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	203	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.P203L(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGACAAGAACCTTCAGATTCA	0.333																																																	1	Substitution - Missense(1)	lung(1)											80.0	78.0	79.0					18																	28911754		2203	4298	6501	SO:0001583	missense	0			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.608C>A	18.37:g.28911754C>A	ENSP00000257192:p.Pro203His		B7Z845	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin	p.P203H	ENST00000257192.4	37	c.608	CCDS11896.1	18	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878461	0.72294	.	.	ENSG00000134760	ENST00000257192	T	0.54675	0.56	5.55	5.55	0.83447	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000019	T	0.76948	0.4059	M	0.85859	2.78	0.80722	D	1	D	0.61080	0.989	D	0.74674	0.984	T	0.80358	-0.1416	10	0.87932	D	0	.	19.4944	0.95065	0.0:1.0:0.0:0.0	.	203	Q02413	DSG1_HUMAN	H	203	ENSP00000257192:P203H	ENSP00000257192:P203H	P	+	2	0	DSG1	27165752	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.470000	0.53100	2.597000	0.87782	0.655000	0.94253	CCT	DSG1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000134760		0.333	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG1	HGNC	protein_coding	OTTHUMT00000254947.1		0.00	30	0	C	NM_001942		28911754	+1			no_errors	ENST00000257192	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A
ERMAP	114625	genome.wustl.edu	37	1	43308661	43308661	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:43308661G>T	ENST00000372517.2	+	12	1430	c.1186G>T	c.(1186-1188)Gaa>Taa	p.E396*	RP11-342M1.3_ENST00000444563.1_RNA|ERMAP_ENST00000328249.3_Nonsense_Mutation_p.E306*|ERMAP_ENST00000372514.3_Nonsense_Mutation_p.E396*|RP11-342M1.3_ENST00000414798.1_RNA|RP11-342M1.3_ENST00000416809.2_RNA|RP11-342M1.3_ENST00000425076.1_RNA|ERMAP_ENST00000487556.1_3'UTR	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	396	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.		Missing (in Sc-3 allele).			cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCCTTTCTTTGAACCTTGCCT	0.453																																																	0													137.0	147.0	144.0					1																	43308661		2203	4300	6503	SO:0001587	stop_gained	0			AF311284	CCDS475.1	1p34	2014-07-19	2006-02-23		ENSG00000164010	ENSG00000164010		"""Blood group antigens"", ""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	15743	protein-coding gene	gene with protein product		609017	"""Radin blood group"", ""Scianna blood group"", ""erythroblast membrane-associated protein"", ""erythroblast membrane-associated protein (RD and SC blood groups)"""	RD, SC		11549310	Standard	XM_005270415		Approved	BTN5	uc001cie.1	Q96PL5	OTTHUMG00000007619	ENST00000372517.2:c.1186G>T	1.37:g.43308661G>T	ENSP00000361595:p.Glu396*		D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin	p.E396*	ENST00000372517.2	37	c.1186	CCDS475.1	1	.	.	.	.	.	.	.	.	.	.	G	38	7.163980	0.98107	.	.	ENSG00000164010	ENST00000372517;ENST00000372514;ENST00000328249	.	.	.	5.4	5.4	0.78164	.	0.569571	0.17056	N	0.188736	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	11.5822	0.50898	0.0:0.0:0.8223:0.1776	.	.	.	.	X	396;396;306	.	ENSP00000332439:E306X	E	+	1	0	ERMAP	43081248	0.762000	0.28451	1.000000	0.80357	0.992000	0.81027	0.319000	0.19522	2.814000	0.96858	0.655000	0.94253	GAA	ERMAP	-	superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000164010		0.453	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERMAP	HGNC	protein_coding	OTTHUMT00000020180.1		0.00	42	0	G	NM_018538		43308661	+1			no_errors	ENST00000372514	ensembl	human	known	74_37	nonsense	7.02	53	4	SNP	0.999	T
ESR2	2100	genome.wustl.edu	37	14	64746800	64746800	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr14:64746800T>C	ENST00000341099.4	-	3	851	c.434A>G	c.(433-435)gAt>gGt	p.D145G	ESR2_ENST00000353772.3_Missense_Mutation_p.D145G|ESR2_ENST00000554572.1_Missense_Mutation_p.D145G|ESR2_ENST00000553796.1_Missense_Mutation_p.D145G|ESR2_ENST00000555278.1_Missense_Mutation_p.D145G|ESR2_ENST00000557772.1_Missense_Mutation_p.D145G|ESR2_ENST00000358599.5_Missense_Mutation_p.D145G|ESR2_ENST00000542956.1_Missense_Mutation_p.D145G|ESR2_ENST00000267525.6_Missense_Mutation_p.D145G|ESR2_ENST00000555483.1_Intron|ESR2_ENST00000357782.2_Missense_Mutation_p.D145G	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	145	Modulating.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GAAGTGAGCATCCCTCTTTGA	0.473																																																	0													244.0	220.0	228.0					14																	64746800		2203	4300	6503	SO:0001583	missense	0			X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.434A>G	14.37:g.64746800T>C	ENSP00000343925:p.Asp145Gly		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.D145G	ENST00000341099.4	37	c.434	CCDS9762.1	14	.	.	.	.	.	.	.	.	.	.	T	18.44	3.623865	0.66901	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;D	0.90788	-2.72;-2.67;-2.65;-2.65;-2.65;-2.73;-2.72;-2.73;-2.72;-2.57;-2.33	5.56	5.56	0.83823	Zinc finger, NHR/GATA-type (1);	0.049526	0.85682	D	0.000000	D	0.92691	0.7677	L	0.41573	1.285	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.974;0.968;0.968;0.985	D;P;P;P;P	0.67900	0.954;0.642;0.712;0.851;0.824	D	0.93623	0.6949	10	0.87932	D	0	.	15.708	0.77602	0.0:0.0:0.0:1.0	.	145;145;145;145;145	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	G	145	ENSP00000452485:D145G;ENSP00000441792:D145G;ENSP00000450699:D145G;ENSP00000335551:D145G;ENSP00000351412:D145G;ENSP00000450488:D145G;ENSP00000452426:D145G;ENSP00000350427:D145G;ENSP00000451582:D145G;ENSP00000343925:D145G;ENSP00000267525:D145G	ENSP00000267525:D145G	D	-	2	0	ESR2	63816553	1.000000	0.71417	1.000000	0.80357	0.154000	0.21943	4.904000	0.63279	2.120000	0.65058	0.455000	0.32223	GAT	ESR2	-	NULL	ENSG00000140009		0.473	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR2	HGNC	protein_coding	OTTHUMT00000280621.1	-	0.00	52	0	T			64746800	-1	tier1	-	no_errors	ENST00000341099	ensembl	human	known	74_37	missense	12.68	62	9	SNP	1.000	C
FAM230A	653203	genome.wustl.edu	37	22	20709091	20709091	+	Missense_Mutation	SNP	G	G	A	rs577466293	byFrequency	TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr22:20709091G>A	ENST00000434783.3	+	8	1007	c.823G>A	c.(823-825)Gct>Act	p.A275T	USP41_ENST00000454608.2_Intron|USP41_ENST00000486536.2_Intron					family with sequence similarity 230, member A																		CCAGGGCATCGCTAACGAGGA	0.677													g|||	19	0.00379393	0.0	0.0014	5008	,	,		18273	0.0		0.0099	False		,,,				2504	0.0082																0																																										SO:0001583	missense	0			JX456222		22q11.21	2014-08-13			ENSG00000188280	ENSG00000188280			45045	other	unknown							Standard	XM_006724099		Approved	DGCR15			OTTHUMG00000150686	ENST00000434783.3:c.823G>A	22.37:g.20709091G>A	ENSP00000463576:p.Ala275Thr			Missense_Mutation	SNP	pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom	p.A275T	ENST00000434783.3	37	c.823		22																																																																																			FAM230A	-	superfamily_Kinase-like_dom	ENSG00000188280		0.677	FAM230A-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FAM230A	HGNC	protein_coding	OTTHUMT00000319609.4	-	0.00	65	0	G			20709091	+1	tier1	-	no_errors	ENST00000434783	ensembl	human	known	74_37	missense	9.43	95	10	SNP	0.830	A
EWSR1	2130	genome.wustl.edu	37	22	29686476	29686476	+	Intron	SNP	A	A	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr22:29686476A>T	ENST00000397938.2	+	9	1293				EWSR1_ENST00000332050.6_Intron|EWSR1_ENST00000406548.1_Intron|EWSR1_ENST00000414183.2_Intron|EWSR1_ENST00000332035.6_Intron|EWSR1_ENST00000333395.6_Missense_Mutation_p.N350I|EWSR1_ENST00000331029.7_Intron	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CGGCAGCATAATGAAAAGTGG	0.358			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																			Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"""L, M"""	0													51.0	45.0	47.0					22																	29686476		1568	3582	5150	SO:0001627	intron_variant	0				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.975-1075A>T	22.37:g.29686476A>T			B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	NULL	p.N350I	ENST00000397938.2	37	c.1049	CCDS13851.1	22	.	.	.	.	.	.	.	.	.	.	A	13.13	2.144129	0.37825	.	.	ENSG00000182944	ENST00000333395	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	T	0.60919	0.2306	.	.	.	0.80722	D	1	B	0.34264	0.446	B	0.37047	0.24	T	0.65129	-0.6243	7	0.87932	D	0	.	15.622	0.76813	1.0:0.0:0.0:0.0	.	350	Q9BWA2	.	I	350	.	ENSP00000327456:N350I	N	+	2	0	EWSR1	28016476	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.173000	0.89680	2.102000	0.63906	0.533000	0.62120	AAT	EWSR1	-	NULL	ENSG00000182944		0.358	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EWSR1	HGNC	protein_coding	OTTHUMT00000321345.1		0.00	17	0	A	NM_005243		29686476	+1			no_errors	ENST00000333395	ensembl	human	putative	74_37	missense	12.00	22	3	SNP	1.000	T
FEZF2	55079	genome.wustl.edu	37	3	62355953	62355953	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr3:62355953G>C	ENST00000283268.3	-	5	1479	c.1185C>G	c.(1183-1185)aaC>aaG	p.N395K	FEZF2_ENST00000475839.1_Missense_Mutation_p.N395K|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|FEZF2_ENST00000486811.1_Missense_Mutation_p.N395K	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	395					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GGAAGGCCTTGTTGCAGATGG	0.498																																					NSCLC(170;1772 2053 12525 15604 23984)												0													279.0	257.0	265.0					3																	62355953		2203	4300	6503	SO:0001583	missense	0			AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.1185C>G	3.37:g.62355953G>C	ENSP00000283268:p.Asn395Lys		A8K349|Q9BZ91|Q9NWB9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N395K	ENST00000283268.3	37	c.1185	CCDS2897.1	3	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842371	0.71488	.	.	ENSG00000153266	ENST00000486811;ENST00000283268;ENST00000475839	T;T;T	0.12569	2.67;2.67;2.67	5.86	4.97	0.65823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.042291	0.85682	D	0.000000	T	0.13798	0.0334	L	0.28608	0.87	0.80722	D	1	P	0.38827	0.649	B	0.38985	0.287	T	0.02464	-1.1155	10	0.72032	D	0.01	-23.647	16.2736	0.82632	0.0:0.0:0.8663:0.1337	.	395	Q8TBJ5	FEZF2_HUMAN	K	395	ENSP00000418589:N395K;ENSP00000283268:N395K;ENSP00000418804:N395K	ENSP00000283268:N395K	N	-	3	2	FEZF2	62330993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.922000	0.63404	1.459000	0.47892	0.655000	0.94253	AAC	FEZF2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000153266		0.498	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF2	HGNC	protein_coding	OTTHUMT00000351813.1	-	0.00	159	0	G	NM_018008		62355953	-1	tier1	-	no_errors	ENST00000283268	ensembl	human	known	74_37	missense	15.82	132	25	SNP	1.000	C
FLAD1	80308	genome.wustl.edu	37	1	154960867	154960867	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:154960867T>G	ENST00000292180.3	+	2	981	c.659T>G	c.(658-660)cTa>cGa	p.L220R	FLAD1_ENST00000295530.2_5'UTR|FLAD1_ENST00000368428.1_5'Flank|FLAD1_ENST00000368433.1_Missense_Mutation_p.L220R|FLAD1_ENST00000368431.3_Missense_Mutation_p.L121R|FLAD1_ENST00000368432.1_Missense_Mutation_p.L123R|FLAD1_ENST00000315144.10_Missense_Mutation_p.L123R|FLAD1_ENST00000405236.2_Missense_Mutation_p.L121R|FLAD1_ENST00000487371.1_3'UTR	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	220					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGGGAGAAGCTATCATTGGTG	0.567																																																	0													79.0	80.0	80.0					1																	154960867		2203	4300	6503	SO:0001583	missense	0				CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.659T>G	1.37:g.154960867T>G	ENSP00000292180:p.Leu220Arg		Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom	p.L121R	ENST00000292180.3	37	c.362	CCDS1078.1	1	.	.	.	.	.	.	.	.	.	.	T	19.42	3.824810	0.71143	.	.	ENSG00000160688	ENST00000368433;ENST00000315144;ENST00000368432;ENST00000368431;ENST00000292180;ENST00000405236	.	.	.	5.81	5.81	0.92471	Molybdopterin binding (4);	0.306106	0.31279	N	0.007929	T	0.75729	0.3889	M	0.81942	2.565	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.74348	0.983;0.946	T	0.79453	-0.1797	9	0.62326	D	0.03	-5.4448	15.8376	0.78811	0.0:0.0:0.0:1.0	.	220;121	Q8NFF5;Q8NFF5-4	FAD1_HUMAN;.	R	220;123;123;121;220;121	.	ENSP00000292180:L220R	L	+	2	0	FLAD1	153227491	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	5.946000	0.70234	2.225000	0.72522	0.379000	0.24179	CTA	FLAD1	-	pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom	ENSG00000160688		0.567	FLAD1-001	NOVEL	basic|CCDS	protein_coding	FLAD1	HGNC	protein_coding	OTTHUMT00000091089.1	-	0.00	45	0	T	NM_025207		154960867	+1	tier1	-	no_errors	ENST00000405236	ensembl	human	known	74_37	missense	16.36	46	9	SNP	1.000	G
FOXL1	2300	genome.wustl.edu	37	16	86613176	86613176	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr16:86613176delG	ENST00000320241.3	+	1	1062	c.847delG	c.(847-849)gggfs	p.G284fs		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	284					heart development (GO:0007507)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|Peyer's patch morphogenesis (GO:0061146)|proteoglycan biosynthetic process (GO:0030166)|regulation of Wnt signaling pathway (GO:0030111)|transcription, DNA-templated (GO:0006351)|visceral mesoderm-endoderm interaction involved in midgut development (GO:0007495)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CGAACTCCTAGGGGGTGCCAA	0.662																																					NSCLC(163;308 2020 10889 11476 18208)												0													17.0	20.0	19.0					16																	86613176		2197	4299	6496	SO:0001589	frameshift_variant	0			AF315075	CCDS10959.1	16q24	2014-07-15			ENSG00000176678	ENSG00000176678		"""Forkhead boxes"""	3817	protein-coding gene	gene with protein product		603252		FKHL11		7957066	Standard	NM_005250		Approved	FREAC7, FKH6	uc002fjr.3	Q12952	OTTHUMG00000137653	ENST00000320241.3:c.847delG	16.37:g.86613176delG	ENSP00000326272:p.Gly284fs		Q17RR1|Q9H242	Frame_Shift_Del	DEL	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.G284fs	ENST00000320241.3	37	c.847	CCDS10959.1	16																																																																																			FOXL1	-	NULL	ENSG00000176678		0.662	FOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXL1	HGNC	protein_coding	OTTHUMT00000269105.2		0.00	41	0	G	NM_005250		86613176	+1	tier1		no_errors	ENST00000320241	ensembl	human	known	74_37	frame_shift_del	6.25	30	2	DEL	0.361	-
FUT5	2527	genome.wustl.edu	37	19	5867038	5867038	+	Silent	SNP	G	G	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr19:5867038G>A	ENST00000588525.1	-	2	786	c.699C>T	c.(697-699)gaC>gaT	p.D233D	FUT5_ENST00000252675.5_Silent_p.D233D	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	233					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GTCCGTACACGTCCACCTTGA	0.637																																																	0													40.0	40.0	40.0					19																	5867038		2197	4290	6487	SO:0001819	synonymous_variant	0				CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"""Fucosyltransferases"""	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.699C>T	19.37:g.5867038G>A			A8K4X2	Silent	SNP	pfam_Glyco_trans_10	p.D233	ENST00000588525.1	37	c.699	CCDS12154.1	19																																																																																			FUT5	-	pfam_Glyco_trans_10	ENSG00000130383		0.637	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT5	HGNC	protein_coding	OTTHUMT00000452213.1	-	0.00	62	0	G	NM_002034		5867038	-1	tier1	-	no_errors	ENST00000252675	ensembl	human	known	74_37	silent	19.74	61	15	SNP	0.554	A
GOLGA2P5	55592	genome.wustl.edu	37	12	100562921	100562921	+	RNA	DEL	T	T	-			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr12:100562921delT	ENST00000397112.4	-	0	599					NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						GTCTCATTTGTTTTttttttt	0.403																																																	0																																												0																															12.37:g.100562921delT			Q9NSV2	RNA	DEL	-	NULL	ENST00000397112.4	37	NULL		12																																																																																			GOLGA2B	-	-	ENSG00000238105		0.403	GOLGA2B-004	KNOWN	basic	processed_transcript	GOLGA2P5	Clone_based_vega_gene	pseudogene	OTTHUMT00000396439.2		0.00	16	0	T			100562921	-1	tier1		no_errors	ENST00000421840	ensembl	human	known	74_37	rna	13.04	20	3	DEL	0.000	-
GPR83	10888	genome.wustl.edu	37	11	94126685	94126686	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr11:94126685_94126686insA	ENST00000243673.2	-	3	783_784	c.612_613insT	c.(610-615)catgctfs	p.A205fs	GPR83_ENST00000539203.2_Frame_Shift_Ins_p.A163fs	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	205					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGGCAGATAGCATGTGGGAGTG	0.485																																																	0																																										SO:0001589	frameshift_variant	0			AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.613dupT	11.37:g.94126686_94126686dupA	ENSP00000243673:p.Ala205fs		B0M0K5|Q6NWR4|Q9P1Y8	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.A204fs	ENST00000243673.2	37	c.613_612	CCDS8297.1	11																																																																																			GPR83	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000123901		0.485	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR83	HGNC	protein_coding	OTTHUMT00000396232.1		0.00	64	0	-	NM_016540		94126686	-1	tier1		no_errors	ENST00000243673	ensembl	human	known	74_37	frame_shift_ins	20.48	66	17	INS	1.000:0.938	A
GPR98	84059	genome.wustl.edu	37	5	90041550	90041550	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr5:90041550G>T	ENST00000405460.2	+	52	11008	c.10912G>T	c.(10912-10914)Gat>Tat	p.D3638Y		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3638					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)			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)		TGGCATTAATGATTCTGTAAC	0.358																																																	0													114.0	103.0	106.0					5																	90041550		1870	4110	5980	SO:0001583	missense	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.10912G>T	5.37:g.90041550G>T	ENSP00000384582:p.Asp3638Tyr		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.D3638Y	ENST00000405460.2	37	c.10912	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.96|10.96	1.498021|1.498021	0.26861|0.26861	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.28255|.	1.62|.	5.59|5.59	1.6|1.6	0.23607|0.23607	.|.	0.285490|.	0.44902|.	D|.	0.000414|.	T|T	0.38241|0.38241	0.1033|0.1033	N|N	0.24115|0.24115	0.695|0.695	0.47905|0.47905	D|D	0.99954|0.99954	B;B|.	0.17852|.	0.024;0.016|.	B;B|.	0.17722|.	0.019;0.009|.	T|T	0.07520|0.07520	-1.0768|-1.0768	10|5	0.49607|.	T|.	0.09|.	.|.	6.6715|6.6715	0.23070|0.23070	0.3405:0.1197:0.5399:0.0|0.3405:0.1197:0.5399:0.0	.|.	3638;3638|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	Y|I	3638|1203	ENSP00000384582:D3638Y|.	ENSP00000296619:D3638Y|.	D|M	+|+	1|3	0|0	GPR98|GPR98	90077306|90077306	0.969000|0.969000	0.33509|0.33509	0.081000|0.081000	0.20488|0.20488	0.859000|0.859000	0.49053|0.49053	0.630000|0.630000	0.24553|0.24553	0.722000|0.722000	0.32252|0.32252	0.563000|0.563000	0.77884|0.77884	GAT|ATG	GPR98	-	NULL	ENSG00000164199		0.358	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	-	0.00	38	0	G	NM_032119		90041550	+1	tier1	-	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.687	T
GSDMA	284110	genome.wustl.edu	37	17	38122104	38122104	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr17:38122104G>T	ENST00000301659.4	+	2	282	c.164G>T	c.(163-165)cGc>cTc	p.R55L		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	55					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CGGTACGTCCGCACCGACTAC	0.617																																																	0													27.0	31.0	29.0					17																	38122104		1991	4146	6137	SO:0001583	missense	0			AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"""gasdermin"", ""gasdermin 1"""	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.164G>T	17.37:g.38122104G>T	ENSP00000301659:p.Arg55Leu		Q32MC5|Q86VE7|Q8N1M6	Missense_Mutation	SNP	pfam_Gasdermin	p.R55L	ENST00000301659.4	37	c.164	CCDS45669.1	17	.	.	.	.	.	.	.	.	.	.	G	11.52	1.664646	0.29604	.	.	ENSG00000167914	ENST00000301659	T	0.21734	1.99	5.51	-4.0	0.04057	.	0.770342	0.12083	N	0.501103	T	0.16727	0.0402	M	0.65975	2.015	0.21627	N	0.999616	B	0.28470	0.213	B	0.32864	0.154	T	0.41466	-0.9507	10	0.10636	T	0.68	-0.5448	5.3222	0.15887	0.4446:0.2635:0.2919:0.0	.	55	Q96QA5	GSDMA_HUMAN	L	55	ENSP00000301659:R55L	ENSP00000301659:R55L	R	+	2	0	GSDMA	35375630	0.085000	0.21516	0.070000	0.20053	0.810000	0.45777	-0.337000	0.07852	-0.576000	0.05974	0.462000	0.41574	CGC	GSDMA	-	pfam_Gasdermin	ENSG00000167914		0.617	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMA	HGNC	protein_coding	OTTHUMT00000446847.1	-	0.00	37	0	G	NM_178171		38122104	+1	tier1	-	no_errors	ENST00000301659	ensembl	human	known	74_37	missense	19.15	38	9	SNP	0.242	T
HERC2P9	440248	genome.wustl.edu	37	15	28929558	28929558	+	RNA	SNP	A	A	G			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr15:28929558A>G	ENST00000528584.1	+	0	2095					NR_036443.1				hect domain and RLD 2 pseudogene 9																		AGGGTGTCCGACTACGTGGGT	0.557																																																	0																																												0			BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28929558A>G				RNA	SNP	-	NULL	ENST00000528584.1	37	NULL		15																																																																																			HERC2P9	-	-	ENSG00000206149		0.557	HERC2P9-002	KNOWN	basic	processed_transcript	HERC2P9	HGNC	pseudogene	OTTHUMT00000393268.1	-	0.00	48	0	A	NR_036443		28929558	+1	tier1	-	no_errors	ENST00000528584	ensembl	human	known	74_37	rna	19.40	54	13	SNP	0.325	G
HIST1H2AK	8330	genome.wustl.edu	37	6	27805782	27805783	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr6:27805782_27805783insA	ENST00000330180.2	-	1	334_335	c.335_336insT	c.(334-336)atcfs	p.I112fs	HIST1H2BN_ENST00000606613.1_5'Flank|HIST1H2BN_ENST00000396980.3_5'Flank	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	112						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						GCACGGCCTGGATATTGGGCAG	0.574																																																	0																																										SO:0001589	frameshift_variant	0			Z83739	CCDS4632.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000184348	ENSG00000275221		"""Histones / Replication-dependent"""	4726	protein-coding gene	gene with protein product		602788	"""H2A histone family, member D"", ""histone 1, H2ak"""	H2AFD		9439656, 12408966	Standard	NM_003510		Approved	H2A/d	uc003njs.3	P0C0S8	OTTHUMG00000016382	ENST00000330180.2:c.336dupT	6.37:g.27805783_27805783dupA	ENSP00000330307:p.Ile112fs		P02261|Q2M1R2|Q76PA6	Frame_Shift_Ins	INS	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.Q113fs	ENST00000330180.2	37	c.336_335	CCDS4632.1	6																																																																																			HIST1H2AK	-	superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000184348		0.574	HIST1H2AK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AK	HGNC	protein_coding	OTTHUMT00000043814.1		0.00	158	0	-	NM_003510		27805783	-1	tier1		no_errors	ENST00000330180	ensembl	human	known	74_37	frame_shift_ins	12.37	163	23	INS	1.000:1.000	A
HSPA12A	259217	genome.wustl.edu	37	10	118443327	118443327	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr10:118443327G>T	ENST00000369209.3	-	7	914	c.810C>A	c.(808-810)gaC>gaA	p.D270E		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	270						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CTCCTACTGTGTCACTGCCGC	0.572																																																	0													71.0	87.0	82.0					10																	118443327		2077	4191	6268	SO:0001583	missense	0			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.810C>A	10.37:g.118443327G>T	ENSP00000358211:p.Asp270Glu			Missense_Mutation	SNP	NULL	p.D270E	ENST00000369209.3	37	c.810	CCDS41569.1	10	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898687	0.52227	.	.	ENSG00000165868	ENST00000369209	T	0.40756	1.02	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.29882	0.0747	L	0.32530	0.975	0.58432	D	0.999997	B	0.06786	0.001	B	0.09377	0.004	T	0.10706	-1.0618	10	0.02654	T	1	.	15.1662	0.72828	0.0:0.1401:0.8599:0.0	.	270	O43301	HS12A_HUMAN	E	270	ENSP00000358211:D270E	ENSP00000358211:D270E	D	-	3	2	HSPA12A	118433317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.340000	0.52143	2.875000	0.98604	0.643000	0.83706	GAC	HSPA12A	-	NULL	ENSG00000165868		0.572	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12A	HGNC	protein_coding	OTTHUMT00000050530.1		0.00	49	0	G	NM_025015		118443327	-1			no_errors	ENST00000369209	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T
HUWE1	10075	genome.wustl.edu	37	X	53573489	53573489	+	Missense_Mutation	SNP	A	A	C			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chrX:53573489A>C	ENST00000342160.3	-	69	11280	c.10823T>G	c.(10822-10824)cTc>cGc	p.L3608R	HUWE1_ENST00000262854.6_Missense_Mutation_p.L3608R|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3608					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCCCCGGGAGAGCTGCAGTAG	0.522																																																	0													52.0	47.0	49.0					X																	53573489		2203	4300	6503	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10823T>G	X.37:g.53573489A>C	ENSP00000340648:p.Leu3608Arg		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.L3608R	ENST00000342160.3	37	c.10823	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	A	13.99	2.401894	0.42613	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.54675	0.56;0.56	5.57	5.57	0.84162	.	1.541490	0.05182	N	0.501570	T	0.72244	0.3436	L	0.52905	1.665	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.80764	0.986;0.994	T	0.53570	-0.8420	10	0.87932	D	0	.	13.6978	0.62591	1.0:0.0:0.0:0.0	.	3608;3592	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	R	3608	ENSP00000340648:L3608R;ENSP00000262854:L3608R	ENSP00000262854:L3608R	L	-	2	0	HUWE1	53590214	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	8.387000	0.90167	1.878000	0.54408	0.486000	0.48141	CTC	HUWE1	-	NULL	ENSG00000086758		0.522	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0.00	14	0	A	XM_497119		53573489	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	26.32	14	5	SNP	1.000	C
ITGA7	3679	genome.wustl.edu	37	12	56092633	56092633	+	Missense_Mutation	SNP	G	G	T	rs563941470		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr12:56092633G>T	ENST00000555728.1	-	7	1019	c.991C>A	c.(991-993)Cgc>Agc	p.R331S	ITGA7_ENST00000394229.2_Missense_Mutation_p.R287S|ITGA7_ENST00000347027.6_Missense_Mutation_p.R287S|ITGA7_ENST00000257879.6_Missense_Mutation_p.R287S|ITGA7_ENST00000257880.7_Missense_Mutation_p.R331S|ITGA7_ENST00000452168.2_Missense_Mutation_p.R194S|ITGA7_ENST00000553804.1_Missense_Mutation_p.R291S|ITGA7_ENST00000394230.2_Missense_Mutation_p.R291S			Q13683	ITA7_HUMAN	integrin, alpha 7	331					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)	p.R291fs*42(1)|p.R287fs*42(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGGTTGGCGCGGGGGGCTCCA	0.622																																																	2	Insertion - Frameshift(2)	lung(2)											26.0	25.0	26.0					12																	56092633		2201	4297	6498	SO:0001583	missense	0				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.991C>A	12.37:g.56092633G>T	ENSP00000452387:p.Arg331Ser		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.R331S	ENST00000555728.1	37	c.991		12	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250909	0.80135	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728;ENST00000557257	T;T;T;T;T;T;T;T;T	0.74106	-0.81;1.04;1.04;-0.81;1.04;-0.81;1.04;1.04;1.04	4.46	3.49	0.39957	.	0.076340	0.51477	D	0.000095	D	0.85031	0.5604	M	0.83483	2.645	0.58432	D	0.999997	D;D;D;P	0.76494	0.999;0.998;0.996;0.941	D;D;D;P	0.74348	0.983;0.98;0.971;0.723	D	0.86677	0.1914	10	0.87932	D	0	.	11.6755	0.51427	0.0:0.0:0.8227:0.1773	.	194;331;291;350	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	S	291;287;287;194;331;291;287;331;331;129	ENSP00000452120:R291S;ENSP00000257879:R287S;ENSP00000343009:R287S;ENSP00000393844:R194S;ENSP00000257880:R331S;ENSP00000377777:R291S;ENSP00000377776:R287S;ENSP00000452387:R331S;ENSP00000450578:R129S	ENSP00000257879:R287S	R	-	1	0	ITGA7	54378900	0.818000	0.29161	1.000000	0.80357	0.974000	0.67602	1.077000	0.30741	2.489000	0.83994	0.491000	0.48974	CGC	ITGA7	-	smart_Int_alpha_beta-p,prints_Integrin_alpha	ENSG00000135424		0.622	ITGA7-014	KNOWN	basic	protein_coding	ITGA7	HGNC	protein_coding	OTTHUMT00000410138.1	-	0.00	34	0	G	NM_002206		56092633	-1	tier1	-	no_errors	ENST00000555728	ensembl	human	known	74_37	missense	20.00	36	9	SNP	1.000	T
KIAA0922	23240	genome.wustl.edu	37	4	154471245	154471245	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr4:154471245G>C	ENST00000409663.3	+	4	312	c.260G>C	c.(259-261)aGt>aCt	p.S87T	KIAA0922_ENST00000440693.1_Missense_Mutation_p.S87T|KIAA0922_ENST00000409959.3_Missense_Mutation_p.S87T	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	87						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AAACTATTTAGTGGAAAAGGC	0.264																																																	0													71.0	62.0	65.0					4																	154471245		692	1585	2277	SO:0001583	missense	0			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.260G>C	4.37:g.154471245G>C	ENSP00000386574:p.Ser87Thr		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.S87T	ENST00000409663.3	37	c.260	CCDS3783.2	4	.	.	.	.	.	.	.	.	.	.	G	7.676	0.688013	0.14973	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959	T;T;T	0.18016	2.5;2.24;2.5	5.77	4.01	0.46588	.	.	.	.	.	T	0.13286	0.0322	L	0.39898	1.24	0.23487	N	0.997572	B;B	0.12013	0.005;0.003	B;B	0.12156	0.007;0.004	T	0.28618	-1.0038	9	0.27785	T	0.31	.	6.1553	0.20334	0.1888:0.0:0.6585:0.1527	.	87;87	A2VDJ0-5;A2VDJ0	.;T131L_HUMAN	T	87	ENSP00000386574:S87T;ENSP00000409663:S87T;ENSP00000386787:S87T	ENSP00000386574:S87T	S	+	2	0	KIAA0922	154690695	0.995000	0.38212	0.984000	0.44739	0.996000	0.88848	0.963000	0.29293	0.853000	0.35312	0.655000	0.94253	AGT	KIAA0922	-	NULL	ENSG00000121210		0.264	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0922	HGNC	protein_coding	OTTHUMT00000330370.1	-	0.00	31	0	G	NM_015196		154471245	+1	tier1	-	no_errors	ENST00000409959	ensembl	human	known	74_37	missense	30.56	25	11	SNP	0.999	C
LEMD3	23592	genome.wustl.edu	37	12	65564146	65564146	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr12:65564146A>T	ENST00000308330.2	+	1	796	c.770A>T	c.(769-771)aAc>aTc	p.N257I	LEMD3_ENST00000541171.1_3'UTR	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	257					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TGCCGGGAAAACTATTCGGAC	0.632																																																	0													26.0	28.0	27.0					12																	65564146		2203	4299	6502	SO:0001583	missense	0			AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.770A>T	12.37:g.65564146A>T	ENSP00000308369:p.Asn257Ile		Q9NT47|Q9NYA5	Missense_Mutation	SNP	pfam_Inner-Nucl-membr_MAN1,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom	p.N257I	ENST00000308330.2	37	c.770	CCDS8972.1	12	.	.	.	.	.	.	.	.	.	.	A	17.13	3.311137	0.60414	.	.	ENSG00000174106	ENST00000308330	T	0.45668	0.89	3.58	3.58	0.41010	.	0.355198	0.23868	U	0.043777	T	0.20577	0.0495	N	0.08118	0	0.33385	D	0.575353	B;B	0.33379	0.41;0.41	B;B	0.28784	0.094;0.094	T	0.28202	-1.0051	9	.	.	.	-2.4712	12.8914	0.58073	1.0:0.0:0.0:0.0	.	257;257	B4E2K7;Q9Y2U8	.;MAN1_HUMAN	I	257	ENSP00000308369:N257I	.	N	+	2	0	LEMD3	63850413	1.000000	0.71417	0.982000	0.44146	0.977000	0.68977	4.817000	0.62650	1.859000	0.53934	0.379000	0.24179	AAC	LEMD3	-	NULL	ENSG00000174106		0.632	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEMD3	HGNC	protein_coding	OTTHUMT00000401312.2		0.00	14	0	A			65564146	+1			no_errors	ENST00000308330	ensembl	human	known	74_37	missense	16.67	25	5	SNP	0.985	T
LINC00304	283860	genome.wustl.edu	37	16	89226823	89226823	+	lincRNA	SNP	A	A	G			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr16:89226823A>G	ENST00000321214.2	+	0	545					NR_024347.2		Q8N9R0	CP081_HUMAN	long intergenic non-protein coding RNA 304																		TCCTCACCCGAAGACCCCCCG	0.672																																																	0																																												0			AK094020		16q24.3	2012-11-19	2011-08-10	2011-08-10	ENSG00000180422	ENSG00000180422		"""Long non-coding RNAs"""	26713	non-coding RNA	RNA, long non-coding			"""chromosome 16 open reading frame 81"", ""non-protein coding RNA 304"""	C16orf81, NCRNA00304			Standard	NR_024347		Approved	FLJ36701	uc002fms.3	Q8N9R0	OTTHUMG00000175524		16.37:g.89226823A>G				RNA	SNP	-	NULL	ENST00000321214.2	37	NULL		16																																																																																			LINC00304	-	-	ENSG00000180422		0.672	LINC00304-001	KNOWN	basic	lincRNA	LINC00304	HGNC	lincRNA	OTTHUMT00000430368.1	-	0.00	25	0	A	NR_024347		89226823	+1	tier1	-	no_errors	ENST00000321214	ensembl	human	known	74_37	rna	18.75	26	6	SNP	0.389	G
LMAN1	3998	genome.wustl.edu	37	18	57016376	57016376	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr18:57016376delA	ENST00000251047.5	-	6	1449	c.732delT	c.(730-732)tttfs	p.F244fs	LMAN1_ENST00000587940.1_5'UTR	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	244	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CAGATATTCCAAAATGCCCTT	0.353																																																	0													115.0	115.0	115.0					18																	57016376		2203	4300	6503	SO:0001589	frameshift_variant	0			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.732delT	18.37:g.57016376delA	ENSP00000251047:p.Phe244fs		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Frame_Shift_Del	DEL	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_box_dom	p.F244fs	ENST00000251047.5	37	c.732	CCDS11974.1	18																																																																																			LMAN1	-	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	ENSG00000074695		0.353	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMAN1	HGNC	protein_coding	OTTHUMT00000256129.2		0.00	22	0	A	NM_005570		57016376	-1	tier1		no_errors	ENST00000251047	ensembl	human	known	74_37	frame_shift_del	8.70	21	2	DEL	1.000	-
MYT1L	23040	genome.wustl.edu	37	2	2328454	2328454	+	Intron	SNP	C	C	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr2:2328454C>A	ENST00000399161.2	-	1	228				AC009232.2_ENST00000448106.1_lincRNA|MYT1L_ENST00000428368.2_Intron	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like						cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTGCGAGTCCCGCCTGTGCTG	0.627																																																	0																																										SO:0001627	intron_variant	0			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.520+6284G>T	2.37:g.2328454C>A			A7E2C7|B2RP54|Q6IQ17|Q9UPP6	RNA	SNP	-	NULL	ENST00000399161.2	37	NULL		2																																																																																			AC009232.2	-	-	ENSG00000225619		0.627	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	LOC730811	Clone_based_vega_gene	protein_coding	OTTHUMT00000322493.1	-	0.00	35	0	C	NM_015025		2328454	+1	tier1	-	no_errors	ENST00000422175	ensembl	human	known	74_37	rna	14.89	40	7	SNP	0.000	A
LRPPRC	10128	genome.wustl.edu	37	2	44187730	44187730	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr2:44187730C>A	ENST00000260665.7	-	13	1589	c.1532G>T	c.(1531-1533)gGa>gTa	p.G511V	LRPPRC_ENST00000409946.1_Missense_Mutation_p.G511V	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	511					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACTTCTCAATCCAGCTTGAGA	0.323																																																	0													158.0	153.0	155.0					2																	44187730		2203	4300	6503	SO:0001583	missense	0			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1532G>T	2.37:g.44187730C>A	ENSP00000260665:p.Gly511Val		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.G511V	ENST00000260665.7	37	c.1532	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	C	3.718	-0.058206	0.07317	.	.	ENSG00000138095	ENST00000465633;ENST00000260665;ENST00000409946	T;T	0.54866	0.55;0.59	4.93	2.49	0.30216	.	0.284462	0.36893	N	0.002351	T	0.26048	0.0635	N	0.08118	0	0.80722	D	1	B;B	0.17038	0.002;0.02	B;B	0.14023	0.001;0.01	T	0.03630	-1.1018	10	0.16896	T	0.51	-23.7981	6.6429	0.22919	0.0:0.0789:0.1542:0.7669	.	411;511	F5H4J6;P42704	.;LPPRC_HUMAN	V	411;511;511	ENSP00000260665:G511V;ENSP00000386234:G511V	ENSP00000260665:G511V	G	-	2	0	LRPPRC	44041234	1.000000	0.71417	0.071000	0.20095	0.013000	0.08279	1.562000	0.36353	0.360000	0.24265	-1.377000	0.01181	GGA	LRPPRC	-	NULL	ENSG00000138095		0.323	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	-	0.00	55	0	C	NM_133259		44187730	-1	tier1	-	no_errors	ENST00000260665	ensembl	human	known	74_37	missense	18.06	59	13	SNP	0.885	A
LTK	4058	genome.wustl.edu	37	15	41797421	41797421	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr15:41797421delT	ENST00000263800.6	-	15	2006	c.1910delA	c.(1909-1911)aatfs	p.N637fs	LTK_ENST00000453182.2_Frame_Shift_Del_p.N507fs|LTK_ENST00000355166.5_Frame_Shift_Del_p.N576fs|LTK_ENST00000561619.1_Frame_Shift_Del_p.N335fs	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	637	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GATGAAGTGATTTTCCTCCAG	0.597										TSP Lung(18;0.14)																																							0													68.0	61.0	63.0					15																	41797421		2203	4300	6503	SO:0001589	frameshift_variant	0			D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1910delA	15.37:g.41797421delT	ENSP00000263800:p.Asn637fs		A6NNJ8|B4DL89|E9PFX4	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N637fs	ENST00000263800.6	37	c.1910	CCDS10077.1	15																																																																																			LTK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000062524		0.597	LTK-001	KNOWN	basic|CCDS	protein_coding	LTK	HGNC	protein_coding	OTTHUMT00000252690.2		0.00	40	0	T			41797421	-1	tier1		no_errors	ENST00000263800	ensembl	human	known	74_37	frame_shift_del	10.00	18	2	DEL	1.000	-
LZTR1	8216	genome.wustl.edu	37	22	21348236	21348236	+	Silent	SNP	C	C	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr22:21348236C>T	ENST00000215739.8	+	13	1736	c.1377C>T	c.(1375-1377)caC>caT	p.H459H	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Silent_p.H440H	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	459	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGCAGGGCCACGTAGCCATTG	0.647																																																	0													37.0	38.0	38.0					22																	21348236		2203	4300	6503	SO:0001819	synonymous_variant	0			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1377C>T	22.37:g.21348236C>T			Q14776|Q20WK0	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.H459	ENST00000215739.8	37	c.1377	CCDS33606.1	22																																																																																			LZTR1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000099949		0.647	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	-	0.00	49	0	C	NM_006767		21348236	+1	tier1	-	no_errors	ENST00000215739	ensembl	human	known	74_37	silent	20.75	42	11	SNP	0.953	T
MAB21L2	10586	genome.wustl.edu	37	4	151504688	151504688	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr4:151504688A>T	ENST00000317605.4	+	1	1612	c.507A>T	c.(505-507)caA>caT	p.Q169H	LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000357115.3_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	169					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		ATGTGGTGCAAATCACTCCGG	0.642																																																	0													79.0	79.0	79.0					4																	151504688		2203	4300	6503	SO:0001583	missense	0			AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.507A>T	4.37:g.151504688A>T	ENSP00000324701:p.Gln169His		B3KP37|Q9HBA7	Missense_Mutation	SNP	pfam_Mab-21_dom,pfscan_Ricin_B_lectin	p.Q169H	ENST00000317605.4	37	c.507	CCDS3774.1	4	.	.	.	.	.	.	.	.	.	.	A	19.66	3.868911	0.72065	.	.	ENSG00000181541	ENST00000317605	T	0.08458	3.09	5.67	-6.79	0.01715	.	0.000000	0.85682	D	0.000000	T	0.25044	0.0608	M	0.83312	2.635	0.49483	D	0.999792	D	0.56968	0.978	D	0.62955	0.909	T	0.45600	-0.9250	10	0.42905	T	0.14	-7.3772	20.6793	0.99705	0.1956:0.0:0.8044:0.0	.	169	Q9Y586	MB212_HUMAN	H	169	ENSP00000324701:Q169H	ENSP00000324701:Q169H	Q	+	3	2	MAB21L2	151724138	0.898000	0.30612	0.911000	0.35937	0.995000	0.86356	0.017000	0.13399	-1.069000	0.03153	0.459000	0.35465	CAA	MAB21L2	-	pfam_Mab-21_dom	ENSG00000181541		0.642	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L2	HGNC	protein_coding	OTTHUMT00000364937.1		0.00	19	0	A	NM_006439		151504688	+1			no_errors	ENST00000317605	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.981	T
MAP4K5	11183	genome.wustl.edu	37	14	50914184	50914184	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr14:50914184G>T	ENST00000013125.4	-	16	1408	c.1090C>A	c.(1090-1092)Cca>Aca	p.P364T	RP11-406H23.2_ENST00000555257.1_lincRNA	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	364					activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					ATGAAATTTGGGTCTGATGAC	0.279																																																	0													36.0	34.0	35.0					14																	50914184		1773	4029	5802	SO:0001583	missense	0			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.1090C>A	14.37:g.50914184G>T	ENSP00000013125:p.Pro364Thr		Q8IYF6	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.P364T	ENST00000013125.4	37	c.1090		14	.	.	.	.	.	.	.	.	.	.	G	7.318	0.616287	0.14129	.	.	ENSG00000012983	ENST00000013125	T	0.71461	-0.57	5.32	3.38	0.38709	Protein kinase-like domain (1);	0.208893	0.40554	N	0.001077	T	0.50752	0.1634	N	0.22421	0.69	0.30781	N	0.741991	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45338	-0.9268	10	0.20519	T	0.43	.	7.6167	0.28163	0.0893:0.0:0.6937:0.217	.	38;364;364	B3KWC4;B2R928;Q9Y4K4	.;.;M4K5_HUMAN	T	364	ENSP00000013125:P364T	ENSP00000013125:P364T	P	-	1	0	MAP4K5	49983934	0.997000	0.39634	1.000000	0.80357	0.756000	0.42949	1.159000	0.31749	1.371000	0.46172	0.455000	0.32223	CCA	MAP4K5	-	superfamily_Kinase-like_dom	ENSG00000012983		0.279	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	MAP4K5	HGNC	protein_coding	OTTHUMT00000410880.1	-	0.00	71	0	G	NM_006575		50914184	-1	tier1	-	no_errors	ENST00000013125	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T
MBP	4155	genome.wustl.edu	37	18	74696752	74696752	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr18:74696752C>T	ENST00000528160.1	-	2	154	c.101G>A	c.(100-102)cGc>cAc	p.R34H	MBP_ENST00000527041.1_Intron|MBP_ENST00000578193.1_Silent_p.T150T|RP11-862L9.3_ENST00000582546.1_RNA|RP11-862L9.3_ENST00000580580.1_RNA|RP11-862L9.3_ENST00000582763.1_RNA|MBP_ENST00000397869.3_Silent_p.T215T|MBP_ENST00000397865.5_Silent_p.T139T|MBP_ENST00000359645.3_Silent_p.T165T|MBP_ENST00000397875.3_Silent_p.T160T|MBP_ENST00000397866.4_Silent_p.T150T|MBP_ENST00000382582.3_Silent_p.T176T|MBP_ENST00000354542.4_Intron|MBP_ENST00000580402.1_Silent_p.T283T|MBP_ENST00000579129.1_Intron|MBP_ENST00000526111.1_Silent_p.T128T|MBP_ENST00000355994.2_Silent_p.T283T			P13727	PRG2_HUMAN	myelin basic protein	0					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	TTTTGGAAAGCGTGCCCTGGG	0.557																																					NSCLC(17;72 1131 19392)												0													80.0	82.0	82.0					18																	74696752		2203	4300	6503	SO:0001583	missense	0				CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000528160.1:c.101G>A	18.37:g.74696752C>T	ENSP00000436830:p.Arg34His		A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	NULL	p.R34H	ENST00000528160.1	37	c.101		18	.	.	.	.	.	.	.	.	.	.	C	14.31	2.497749	0.44455	.	.	ENSG00000197971	ENST00000528160	.	.	.	4.71	-1.61	0.08399	.	.	.	.	.	T	0.55768	0.1941	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57820	-0.7745	5	0.87932	D	0	-13.731	4.0077	0.09608	0.2168:0.3296:0.0:0.4536	.	.	.	.	H	34	.	ENSP00000436830:R34H	R	-	2	0	MBP	72825740	0.976000	0.34144	1.000000	0.80357	0.769000	0.43574	-0.129000	0.10515	0.011000	0.14865	0.462000	0.41574	CGC	MBP	-	NULL	ENSG00000197971		0.557	MBP-031	NOVEL	basic	protein_coding	MBP	HGNC	protein_coding	OTTHUMT00000390710.1	-	0.00	61	0	C	NM_001025081		74696752	-1	tier1	-	no_errors	ENST00000528160	ensembl	human	novel	74_37	missense	14.93	57	10	SNP	1.000	T
MBTPS2	51360	genome.wustl.edu	37	X	21861336	21861336	+	Missense_Mutation	SNP	G	G	A	rs375900835		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chrX:21861336G>A	ENST00000379484.5	+	2	223	c.124G>A	c.(124-126)Gga>Aga	p.G42R	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Missense_Mutation_p.G42R	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	42					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GGAAAACAACGGACTGAGCAT	0.393																																																	0								G	ARG/GLY	1,3834		0,1,1631,571	155.0	148.0	150.0		124	5.6	0.7	X		150	0,6728		0,0,2428,1872	no	missense	MBTPS2	NM_015884.3	125	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	probably-damaging	42/520	21861336	1,10562	2203	4300	6503	SO:0001583	missense	0			AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.124G>A	X.37:g.21861336G>A	ENSP00000368798:p.Gly42Arg		Q9UM70|Q9UMD3	Missense_Mutation	SNP	pfam_Peptidase_M50,superfamily_PDZ,prints_MBTPS2	p.G42R	ENST00000379484.5	37	c.124	CCDS14201.1	X	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599442	0.87055	2.61E-4	0.0	ENSG00000012174	ENST00000379484;ENST00000365779	D;D	0.95238	-3.65;-2.48	5.55	5.55	0.83447	.	0.107678	0.64402	D	0.000006	D	0.97210	0.9088	M	0.78801	2.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.983	D	0.97637	1.0146	10	0.66056	D	0.02	-6.7501	18.6008	0.91247	0.0:0.0:1.0:0.0	.	42;42;42	A8KA68;O43462;B9ZVQ3	.;MBTP2_HUMAN;.	R	42	ENSP00000368798:G42R;ENSP00000368796:G42R	ENSP00000368796:G42R	G	+	1	0	MBTPS2	21771257	1.000000	0.71417	0.658000	0.29665	0.883000	0.51084	8.628000	0.90979	2.336000	0.79503	0.544000	0.68410	GGA	MBTPS2	-	NULL	ENSG00000012174		0.393	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS2	HGNC	protein_coding	OTTHUMT00000056026.1	-	0.00	42	0	G			21861336	+1	tier1	-	no_errors	ENST00000379484	ensembl	human	known	74_37	missense	17.24	48	10	SNP	0.996	A
MCC	4163	genome.wustl.edu	37	5	112389443	112389444	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr5:112389443_112389444insA	ENST00000302475.4	-	13	2419_2420	c.1856_1857insT	c.(1855-1857)atgfs	p.M619fs	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Frame_Shift_Ins_p.M809fs|MCC_ENST00000515367.2_Frame_Shift_Ins_p.M556fs	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	619					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TGAGCTCCTGCATAAGCACTGC	0.55																																																	0																																										SO:0001589	frameshift_variant	0				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1857dupT	5.37:g.112389444_112389444dupA	ENSP00000305617:p.Met619fs		D3DT05|Q6ZR04	Frame_Shift_Ins	INS	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm	p.M619fs	ENST00000302475.4	37	c.1857_1856	CCDS4111.1	5																																																																																			MCC	-	NULL	ENSG00000171444		0.550	MCC-001	KNOWN	basic|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000250736.3		0.00	37	0	-	NM_001085377		112389444	-1	tier1		no_errors	ENST00000302475	ensembl	human	known	74_37	frame_shift_ins	25.00	33	11	INS	1.000:1.000	A
MCF2L	23263	genome.wustl.edu	37	13	113724463	113724463	+	Silent	SNP	G	G	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr13:113724463G>A	ENST00000375608.3	+	10	1120	c.1062G>A	c.(1060-1062)cgG>cgA	p.R354R	MCF2L_ENST00000375597.4_Silent_p.R322R|MCF2L_ENST00000375601.3_Silent_p.R328R|MCF2L_ENST00000423482.2_Silent_p.R322R|MCF2L_ENST00000421756.1_Silent_p.R328R|MCF2L_ENST00000397030.1_Silent_p.R357R|MCF2L_ENST00000434480.2_Silent_p.R330R|MCF2L_ENST00000375604.2_Silent_p.R381R|MCF2L_ENST00000442652.2_Silent_p.R354R|MCF2L_ENST00000535094.2_Silent_p.R324R			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	354					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	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;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TGCAGCTCCGGCACTTTGAGC	0.647																																																	0													69.0	58.0	62.0					13																	113724463		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.1062G>A	13.37:g.113724463G>A			A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.R381	ENST00000375608.3	37	c.1143		13																																																																																			MCF2L	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000126217		0.647	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	HGNC	protein_coding	OTTHUMT00000045849.4	-	0.00	70	0	G			113724463	+1	tier1	-	no_errors	ENST00000375604	ensembl	human	known	74_37	silent	6.45	57	4	SNP	1.000	A
MCF2L2	23101	genome.wustl.edu	37	3	182941140	182941140	+	Silent	SNP	C	C	G			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr3:182941140C>G	ENST00000328913.3	-	20	2592	c.2295G>C	c.(2293-2295)ctG>ctC	p.L765L	MCF2L2_ENST00000473233.1_Silent_p.L765L	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	765	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTACCTTCAACAGCATCTGGT	0.453																																																	0													124.0	118.0	120.0					3																	182941140		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2295G>C	3.37:g.182941140C>G			O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L765	ENST00000328913.3	37	c.2295	CCDS3243.1	3																																																																																			MCF2L2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000053524		0.453	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	HGNC	protein_coding	OTTHUMT00000350868.1		0.00	25	0	C	NM_015078		182941140	-1			no_errors	ENST00000328913	ensembl	human	known	74_37	silent	26.09	17	6	SNP	0.996	G
HIST1H2BK	85236	genome.wustl.edu	37	6	27115407	27115407	+	5'Flank	SNP	G	G	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr6:27115407G>A	ENST00000356950.1	-	0	0				MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_5'Flank			O60814	H2B1K_HUMAN	histone cluster 1, H2bk						antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TGCTTCGCTAGATAACATTGT	0.403																																																	0																																										SO:0001631	upstream_gene_variant	0			AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473		6.37:g.27115407G>A	Exception_encountered		A8K7P7|Q2VPI7	RNA	SNP	-	NULL	ENST00000356950.1	37	NULL	CCDS4621.1	6																																																																																			MIR3143	-	-	ENSG00000265565		0.403	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR3143	HGNC	protein_coding	OTTHUMT00000040141.1	-	0.00	35	0	G	NM_080593		27115407	+1	tier1	-	no_errors	ENST00000584253	ensembl	human	known	74_37	rna	14.29	48	8	SNP	0.000	A
HTR2C	3358	genome.wustl.edu	37	X	113873947	113873947	+	Intron	SNP	C	C	A	rs377648254		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chrX:113873947C>A	ENST00000276198.1	+	2	649				HTR2C_ENST00000371950.3_Intron|MIR764_ENST00000390811.2_RNA|HTR2C_ENST00000371951.1_Intron	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled						behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CACTTGTCCTCCTCCATGCTT	0.438																																																	0													128.0	105.0	112.0					X																	113873947		692	1591	2283	SO:0001627	intron_variant	0				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.-80+25608C>A	X.37:g.113873947C>A			B1AMW4|Q5VUF8|Q9NP28	RNA	SNP	-	NULL	ENST00000276198.1	37	NULL	CCDS14564.1	X																																																																																			MIR764	-	-	ENSG00000212100		0.438	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR764	HGNC	protein_coding	OTTHUMT00000057962.1	-	0.00	27	0	C	NM_000868		113873947	+1	tier1	-	no_errors	ENST00000390811	ensembl	human	known	74_37	rna	30.00	21	9	SNP	1.000	A
MSL2	55167	genome.wustl.edu	37	3	135871405	135871405	+	Silent	SNP	T	T	C	rs544521594		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr3:135871405T>C	ENST00000309993.2	-	2	1050	c.318A>G	c.(316-318)ctA>ctG	p.L106L	MSL2_ENST00000434835.2_Silent_p.L32L	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	106	Sufficient for interaction with MSL1.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TATACTCGCATAGTTTTTTGT	0.378																																																	0													206.0	191.0	196.0					3																	135871405		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.318A>G	3.37:g.135871405T>C			B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Silent	SNP	pfscan_Znf_RING	p.L106	ENST00000309993.2	37	c.318	CCDS33861.1	3																																																																																			MSL2	-	NULL	ENSG00000174579		0.378	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSL2	HGNC	protein_coding	OTTHUMT00000357347.1	-	0.00	63	0	T	NM_018133		135871405	-1	tier1	-	no_errors	ENST00000309993	ensembl	human	known	74_37	silent	20.00	76	19	SNP	0.942	C
MTHFD1L	25902	genome.wustl.edu	37	6	151247388	151247388	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr6:151247388A>G	ENST00000367321.3	+	11	1487	c.1213A>G	c.(1213-1215)Agg>Ggg	p.R405G		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	405	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		CGTGCTAGAAAGGTTAAAGGA	0.403																																																	0													150.0	142.0	144.0					6																	151247388		2203	4300	6503	SO:0001583	missense	0			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.1213A>G	6.37:g.151247388A>G	ENSP00000356290:p.Arg405Gly		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase	p.R405G	ENST00000367321.3	37	c.1213	CCDS5228.1	6	.	.	.	.	.	.	.	.	.	.	A	18.31	3.596743	0.66332	.	.	ENSG00000120254	ENST00000367321;ENST00000441122	T;T	0.24350	1.86;1.86	6.03	6.03	0.97812	.	0.088018	0.85682	D	0.000000	T	0.54581	0.1867	M	0.92738	3.34	0.80722	D	1	D;D;D	0.89917	0.992;0.976;1.0	D;P;D	0.75020	0.934;0.904;0.985	T	0.67098	-0.5756	10	0.72032	D	0.01	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	406;160;405	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	G	405;76	ENSP00000356290:R405G;ENSP00000407070:R76G	ENSP00000356290:R405G	R	+	1	2	MTHFD1L	151289081	0.999000	0.42202	0.983000	0.44433	0.392000	0.30506	4.327000	0.59247	2.308000	0.77769	0.533000	0.62120	AGG	MTHFD1L	-	pfam_Formate_THF_ligase,superfamily_P-loop_NTPase	ENSG00000120254		0.403	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD1L	HGNC	protein_coding	OTTHUMT00000042699.1	-	0.00	70	0	A	NM_015440		151247388	+1	tier1	-	no_errors	ENST00000367321	ensembl	human	known	74_37	missense	19.15	38	9	SNP	0.999	G
MTOR	2475	genome.wustl.edu	37	1	11292543	11292543	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:11292543T>C	ENST00000361445.4	-	16	2540	c.2464A>G	c.(2464-2466)Att>Gtt	p.I822V		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	822					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|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(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	ATGATGATAATAAAAAGTTCA	0.433																																																	0													126.0	122.0	123.0					1																	11292543		2203	4300	6503	SO:0001583	missense	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.2464A>G	1.37:g.11292543T>C	ENSP00000354558:p.Ile822Val		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.I822V	ENST00000361445.4	37	c.2464	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.791344	0.50102	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.64438	-0.1	5.73	4.58	0.56647	Armadillo-like helical (1);Armadillo-type fold (1);	0.176324	0.50627	N	0.000105	T	0.39733	0.1089	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.23511	-1.0186	10	0.66056	D	0.02	-4.5124	7.8907	0.29675	0.0:0.0701:0.1371:0.7928	.	822	P42345	MTOR_HUMAN	V	822	ENSP00000354558:I822V	ENSP00000354558:I822V	I	-	1	0	MTOR	11215130	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.053000	0.64269	0.958000	0.37956	0.533000	0.62120	ATT	MTOR	-	superfamily_ARM-type_fold	ENSG00000198793		0.433	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	-	0.00	20	0	T	NM_004958		11292543	-1	tier1	-	no_errors	ENST00000361445	ensembl	human	known	74_37	missense	25.81	23	8	SNP	1.000	C
MYH15	22989	genome.wustl.edu	37	3	108127166	108127166	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr3:108127166T>A	ENST00000273353.3	-	33	4697	c.4641A>T	c.(4639-4641)gaA>gaT	p.E1547D		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1547						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTGTCTTCTCTTCTTCAATTA	0.408																																																	0													232.0	215.0	220.0					3																	108127166		1881	4120	6001	SO:0001583	missense	0			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.4641A>T	3.37:g.108127166T>A	ENSP00000273353:p.Glu1547Asp			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.E1547D	ENST00000273353.3	37	c.4641	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	T	6.511	0.462574	0.12342	.	.	ENSG00000144821	ENST00000273353	D	0.82433	-1.61	5.92	1.76	0.24704	Myosin tail (1);	.	.	.	.	T	0.61048	0.2316	N	0.03608	-0.345	0.19575	N	0.999962	B	0.06786	0.001	B	0.08055	0.003	T	0.42292	-0.9460	9	0.12430	T	0.62	.	10.0494	0.42205	0.0:0.1282:0.1018:0.7701	.	1547	Q9Y2K3	MYH15_HUMAN	D	1547	ENSP00000273353:E1547D	ENSP00000273353:E1547D	E	-	3	2	MYH15	109609856	0.043000	0.20138	0.053000	0.19242	0.014000	0.08584	0.211000	0.17474	0.123000	0.18342	-1.139000	0.01908	GAA	MYH15	-	pfam_Myosin_tail	ENSG00000144821		0.408	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	-	0.00	57	0	T	XM_036988		108127166	-1	tier1	-	no_errors	ENST00000273353	ensembl	human	known	74_37	missense	6.82	82	6	SNP	0.931	A
MYH4	4622	genome.wustl.edu	37	17	10350382	10350382	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr17:10350382G>T	ENST00000255381.2	-	35	5227	c.5117C>A	c.(5116-5118)gCa>gAa	p.A1706E	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1706					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTCTTGCTCTGCCATTTTCCT	0.507																																																	0													158.0	127.0	137.0					17																	10350382		2203	4300	6503	SO:0001583	missense	0				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5117C>A	17.37:g.10350382G>T	ENSP00000255381:p.Ala1706Glu			Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1706E	ENST00000255381.2	37	c.5117	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647810	0.87958	.	.	ENSG00000141048	ENST00000255381	D	0.84146	-1.81	5.29	4.31	0.51392	Myosin tail (1);	0.000000	0.37178	U	0.002219	D	0.94059	0.8096	H	0.95816	3.725	0.58432	D	0.999996	D	0.54207	0.965	D	0.64687	0.928	D	0.95550	0.8620	10	0.87932	D	0	.	14.4126	0.67124	0.0718:0.0:0.9282:0.0	.	1706	Q9Y623	MYH4_HUMAN	E	1706	ENSP00000255381:A1706E	ENSP00000255381:A1706E	A	-	2	0	MYH4	10291107	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.796000	0.99103	1.374000	0.46228	0.563000	0.77884	GCA	MYH4	-	pfam_Myosin_tail	ENSG00000264424		0.507	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	-	0.00	50	0	G	NM_017533		10350382	-1	tier1	-	no_errors	ENST00000255381	ensembl	human	known	74_37	missense	12.50	63	9	SNP	1.000	T
MYH7	4625	genome.wustl.edu	37	14	23898239	23898239	+	Silent	SNP	A	A	G	rs397516099		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr14:23898239A>G	ENST00000355349.3	-	14	1494	c.1332T>C	c.(1330-1332)aaT>aaC	p.N444N		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	444	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|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)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCAGGGTGGCATTGATGCGCG	0.562																																																	0													133.0	115.0	121.0					14																	23898239		2203	4300	6503	SO:0001819	synonymous_variant	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1332T>C	14.37:g.23898239A>G			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.N444	ENST00000355349.3	37	c.1332	CCDS9601.1	14																																																																																			MYH7	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000092054		0.562	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	-	0.00	55	0	A	NM_000257		23898239	-1	tier1	-	no_errors	ENST00000355349	ensembl	human	known	74_37	silent	23.46	62	19	SNP	0.977	G
MYH7	4625	genome.wustl.edu	37	14	23898270	23898270	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr14:23898270C>T	ENST00000355349.3	-	14	1463	c.1301G>A	c.(1300-1302)aGg>aAg	p.R434K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	434	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|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)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTTGAACATCCTCTCATACAC	0.542																																																	0													144.0	127.0	133.0					14																	23898270		2203	4300	6503	SO:0001583	missense	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1301G>A	14.37:g.23898270C>T	ENSP00000347507:p.Arg434Lys		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R434K	ENST00000355349.3	37	c.1301	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	c	1.349	-0.591893	0.03799	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.88664	-2.41	4.18	-2.61	0.06171	Myosin head, motor domain (2);	.	.	.	.	T	0.78419	0.4280	N	0.25825	0.765	0.21782	N	0.999541	B	0.02656	0.0	B	0.01281	0.0	T	0.59440	-0.7454	9	0.10902	T	0.67	.	11.4013	0.49873	0.0:0.3619:0.0:0.6381	.	434	P12883	MYH7_HUMAN	K	434	ENSP00000347507:R434K	ENSP00000347507:R434K	R	-	2	0	MYH7	22968110	0.983000	0.35010	0.980000	0.43619	0.520000	0.34377	0.109000	0.15417	-0.725000	0.04901	-1.662000	0.00750	AGG	MYH7	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000092054		0.542	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	-	0.00	54	0	C	NM_000257		23898270	-1	tier1	-	no_errors	ENST00000355349	ensembl	human	known	74_37	missense	22.11	74	21	SNP	0.997	T
NEB	4703	genome.wustl.edu	37	2	152425154	152425154	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr2:152425154T>C	ENST00000172853.10	-	83	12656	c.12509A>G	c.(12508-12510)cAa>cGa	p.Q4170R	NEB_ENST00000603639.1_Missense_Mutation_p.Q5871R|NEB_ENST00000409198.1_Missense_Mutation_p.Q4170R|NEB_ENST00000427231.2_Missense_Mutation_p.Q5871R|NEB_ENST00000604864.1_Missense_Mutation_p.Q5871R|NEB_ENST00000397345.3_Missense_Mutation_p.Q5871R			P20929	NEBU_HUMAN	nebulin	4170					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCGCCACTTTGTTTCGCTGT	0.373																																																	0													110.0	103.0	105.0					2																	152425154		1985	4184	6169	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.12509A>G	2.37:g.152425154T>C	ENSP00000172853:p.Gln4170Arg		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.Q5871R	ENST00000172853.10	37	c.17612		2	.	.	.	.	.	.	.	.	.	.	T	14.69	2.610728	0.46527	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.93	5.93	0.95920	.	0.151092	0.64402	D	0.000015	T	0.47838	0.1467	L	0.29908	0.895	0.80722	D	1	B;D	0.58268	0.033;0.982	B;P	0.61940	0.155;0.896	T	0.30149	-0.9988	10	0.15499	T	0.54	.	15.2147	0.73254	0.0:0.0:0.0:1.0	.	4170;601	P20929;Q14215	NEBU_HUMAN;.	R	4170;5871;5871;219;601;4170	ENSP00000386259:Q4170R;ENSP00000380505:Q5871R;ENSP00000416578:Q5871R;ENSP00000410961:Q601R;ENSP00000172853:Q4170R	ENSP00000172853:Q4170R	Q	-	2	0	NEB	152133400	0.998000	0.40836	0.997000	0.53966	0.988000	0.76386	4.011000	0.57124	2.271000	0.75665	0.533000	0.62120	CAA	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.373	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0.00	48	0	T	NM_004543		152425154	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.950	C
NFE2L1	4779	genome.wustl.edu	37	17	46135808	46135808	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr17:46135808T>C	ENST00000362042.3	+	6	1740	c.1124T>C	c.(1123-1125)tTc>tCc	p.F375S	NFE2L1_ENST00000536222.1_Missense_Mutation_p.F219S|NFE2L1_ENST00000357480.5_Missense_Mutation_p.F345S|NFE2L1_ENST00000582155.1_Missense_Mutation_p.F187S|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000585291.1_Missense_Mutation_p.F345S|NFE2L1_ENST00000583378.1_Missense_Mutation_p.F176S|NFE2L1_ENST00000361665.3_Missense_Mutation_p.F364S	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	375					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.F375C(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGCCAGGACTTCTTACTCTTC	0.607																																																	1	Substitution - Missense(1)	kidney(1)											96.0	99.0	98.0					17																	46135808		2203	4300	6503	SO:0001583	missense	0			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1124T>C	17.37:g.46135808T>C	ENSP00000354855:p.Phe375Ser		D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.F375S	ENST00000362042.3	37	c.1124	CCDS11524.1	17	.	.	.	.	.	.	.	.	.	.	T	9.462	1.093467	0.20471	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	D;T	0.94828	-3.53;3.15	5.65	4.51	0.55191	.	0.338850	0.35677	N	0.003049	D	0.91264	0.7246	L	0.60455	1.87	0.39898	D	0.973868	P;P;P;P	0.45283	0.855;0.851;0.822;0.807	B;B;B;B	0.41510	0.359;0.253;0.269;0.256	D	0.89804	0.3977	10	0.40728	T	0.16	-15.4232	6.3166	0.21194	0.0:0.0812:0.1615:0.7572	.	219;187;345;375	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	S	394;375;345;219	ENSP00000350072:F345S;ENSP00000445811:F219S	ENSP00000350072:F345S	F	+	2	0	NFE2L1	43490807	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.859000	0.55987	2.150000	0.67090	0.533000	0.62120	TTC	NFE2L1	-	NULL	ENSG00000082641		0.607	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L1	HGNC	protein_coding	OTTHUMT00000443019.1		0.00	27	0	T	NM_003204		46135808	+1			no_errors	ENST00000362042	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	C
NUP210	23225	genome.wustl.edu	37	3	13373869	13373869	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr3:13373869G>A	ENST00000254508.5	-	29	3941	c.3859C>T	c.(3859-3861)Cag>Tag	p.Q1287*		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1287					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TTGAGCAGCTGCAGCTTCTCA	0.478																																																	0													171.0	170.0	171.0					3																	13373869		2203	4300	6503	SO:0001587	stop_gained	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3859C>T	3.37:g.13373869G>A	ENSP00000254508:p.Gln1287*		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Nonsense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.Q1287*	ENST00000254508.5	37	c.3859	CCDS33704.1	3	.	.	.	.	.	.	.	.	.	.	G	41	8.553553	0.98861	.	.	ENSG00000132182	ENST00000254508	.	.	.	5.13	4.24	0.50183	.	0.789478	0.11512	N	0.556605	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-1.2216	12.7055	0.57058	0.0:0.0:0.8351:0.1649	.	.	.	.	X	1287	.	ENSP00000254508:Q1287X	Q	-	1	0	NUP210	13348869	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	2.311000	0.43717	1.253000	0.44018	0.563000	0.77884	CAG	NUP210	-	NULL	ENSG00000132182		0.478	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1		0.00	74	0	G	NM_024923		13373869	-1			no_errors	ENST00000254508	ensembl	human	known	74_37	nonsense	5.06	75	4	SNP	0.999	A
NXPE4	54827	genome.wustl.edu	37	11	114450998	114450998	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr11:114450998G>A	ENST00000375478.3	-	5	1135	c.955C>T	c.(955-957)Cat>Tat	p.H319Y	NXPE4_ENST00000424261.2_Missense_Mutation_p.H35Y	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	319						extracellular vesicular exosome (GO:0070062)											CTCCAGACATGCCCACTGGGG	0.413																																																	0													171.0	158.0	162.0					11																	114450998		1879	4119	5998	SO:0001583	missense	0			AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.955C>T	11.37:g.114450998G>A	ENSP00000364627:p.His319Tyr		Q6QDB4|Q9NXP5	Missense_Mutation	SNP	pfam_NXPH/NXPE,superfamily_Ig_E-set	p.H319Y	ENST00000375478.3	37	c.955	CCDS41718.1	11	.	.	.	.	.	.	.	.	.	.	G	5.240	0.229824	0.09916	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.09350	2.99;3.15	5.31	-3.16	0.05217	.	0.402365	0.23239	N	0.050379	T	0.03871	0.0109	N	0.11154	0.105	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43426	-0.9392	10	0.02654	T	1	.	11.445	0.50118	0.713:0.0:0.287:0.0	.	319	Q6UWF7	FA55D_HUMAN	Y	35;319	ENSP00000401503:H35Y;ENSP00000364627:H319Y	ENSP00000364627:H319Y	H	-	1	0	FAM55D	113956208	0.001000	0.12720	0.020000	0.16555	0.909000	0.53808	-0.061000	0.11693	-0.413000	0.07507	-0.812000	0.03155	CAT	NXPE4	-	NULL	ENSG00000137634		0.413	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NXPE4	HGNC	protein_coding	OTTHUMT00000399179.1		0.00	53	0	G	NM_017678		114450998	-1			no_errors	ENST00000375478	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.001	A
OGT	8473	genome.wustl.edu	37	X	70783039	70783039	+	Silent	SNP	G	G	C			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chrX:70783039G>C	ENST00000373719.3	+	17	2425	c.2208G>C	c.(2206-2208)ctG>ctC	p.L736L	OGT_ENST00000373701.3_Silent_p.L726L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	736					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GGATAGTTCTGAATGGCATCG	0.348																																																	0													122.0	108.0	113.0					X																	70783039		2203	4300	6503	SO:0001819	synonymous_variant	0			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2208G>C	X.37:g.70783039G>C			Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Silent	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L736	ENST00000373719.3	37	c.2208	CCDS14414.1	X																																																																																			OGT	-	NULL	ENSG00000147162		0.348	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	HGNC	protein_coding	OTTHUMT00000081829.3	-	0.00	32	0	G	NM_003605, NM_181672		70783039	+1	tier1	-	no_errors	ENST00000373719	ensembl	human	known	74_37	silent	13.79	25	4	SNP	1.000	C
OPN3	23596	genome.wustl.edu	37	1	241767755	241767755	+	Missense_Mutation	SNP	G	G	C	rs12072790	byFrequency	TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:241767755G>C	ENST00000366554.2	-	2	606	c.500C>G	c.(499-501)gCg>gGg	p.A167G	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	167			A -> V (in dbSNP:rs12072790).		detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TCCTGCCCACGCCAGTGAGTA	0.552																																																	0													100.0	88.0	92.0					1																	241767755		2203	4300	6503	SO:0001583	missense	0			AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.500C>G	1.37:g.241767755G>C	ENSP00000355512:p.Ala167Gly		Q8IX08|Q9Y344	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A167G	ENST00000366554.2	37	c.500	CCDS31072.1	1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880155	0.72294	.	.	ENSG00000054277	ENST00000366554	T	0.38401	1.14	5.24	1.81	0.25067	GPCR, rhodopsin-like superfamily (1);	0.120339	0.56097	D	0.000033	T	0.40372	0.1114	L	0.39085	1.19	0.80722	D	1	D	0.60160	0.987	P	0.60609	0.877	T	0.22452	-1.0216	10	0.87932	D	0	.	7.144	0.25573	0.2176:0.1445:0.6379:0.0	.	167	Q9H1Y3	OPN3_HUMAN	G	167	ENSP00000355512:A167G	ENSP00000355512:A167G	A	-	2	0	OPN3	239834378	1.000000	0.71417	0.022000	0.16811	0.967000	0.64934	2.760000	0.47581	0.544000	0.28883	0.650000	0.86243	GCG	OPN3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000054277		0.552	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN3	HGNC	protein_coding	OTTHUMT00000095713.1	-	0.00	37	0	G	NM_014322		241767755	-1	tier1	-	no_errors	ENST00000366554	ensembl	human	known	74_37	missense	20.00	44	11	SNP	0.784	C
OR5H14	403273	genome.wustl.edu	37	3	97868967	97868967	+	Silent	SNP	A	A	G	rs189802566		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr3:97868967A>G	ENST00000437310.1	+	1	798	c.738A>G	c.(736-738)ttA>ttG	p.L246L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	246						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)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTCATCTCTTATCTGTATCTT	0.413																																																	0													55.0	52.0	53.0					3																	97868967		2203	4298	6501	SO:0001819	synonymous_variant	0				CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.738A>G	3.37:g.97868967A>G			B9EH15	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L246	ENST00000437310.1	37	c.738	CCDS33798.1	3																																																																																			OR5H14	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000236032		0.413	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H14	HGNC	protein_coding	OTTHUMT00000359112.1		0.00	45	0	A			97868967	+1			no_errors	ENST00000437310	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.010	G
OR5H6	79295	genome.wustl.edu	37	3	97983602	97983602	+	Silent	SNP	T	T	C	rs75354046	byFrequency	TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr3:97983602T>C	ENST00000383696.2	+	1	515	c.474T>C	c.(472-474)atT>atC	p.I158I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AACTATGCATTCAGCTATTAG	0.358																																																	0													109.0	102.0	104.0					3																	97983602		2203	4299	6502	SO:0001819	synonymous_variant	0			BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.474T>C	3.37:g.97983602T>C			Q6IF88	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I158	ENST00000383696.2	37	c.474	CCDS33800.1	3																																																																																			OR5H6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000230301		0.358	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H6	HGNC	protein_coding	OTTHUMT00000359111.2	-	0.00	45	0	T			97983602	+1	tier1	rs75354046	no_errors	ENST00000383696	ensembl	human	known	74_37	silent	6.52	86	6	SNP	0.000	C
OR8B3	390271	genome.wustl.edu	37	11	124266927	124266927	+	Silent	SNP	A	A	G	rs142812088		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr11:124266927A>G	ENST00000354597.3	-	1	337	c.321T>C	c.(319-321)ttT>ttC	p.F107F		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	107						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(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		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;0.0277)		CAGAGATGACAAAAAAGAGAA	0.388																																																	0													78.0	76.0	77.0					11																	124266927		2201	4299	6500	SO:0001819	synonymous_variant	0			AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"""GPCR / Class A : Olfactory receptors"""	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.321T>C	11.37:g.124266927A>G			Q6IFQ8|Q8NGH1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F107	ENST00000354597.3	37	c.321	CCDS31709.1	11																																																																																			OR8B3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000196661		0.388	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B3	HGNC	protein_coding	OTTHUMT00000387291.1		0.00	37	0	A	NM_001005467		124266927	-1			no_errors	ENST00000354597	ensembl	human	known	74_37	silent	7.41	25	2	SNP	0.691	G
PCLO	27445	genome.wustl.edu	37	7	82580258	82580258	+	Missense_Mutation	SNP	A	A	C			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr7:82580258A>C	ENST00000333891.9	-	6	9983	c.9646T>G	c.(9646-9648)Ttg>Gtg	p.L3216V	PCLO_ENST00000423517.2_Missense_Mutation_p.L3216V|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCACGCTCCAAGTCTAGCTGC	0.458																																																	0													52.0	50.0	51.0					7																	82580258		1862	4107	5969	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9646T>G	7.37:g.82580258A>C	ENSP00000334319:p.Leu3216Val			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.L3216V	ENST00000333891.9	37	c.9646	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	A	5.859	0.342584	0.11069	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.24350	1.86;1.87	5.33	2.99	0.34606	.	.	.	.	.	T	0.44664	0.1304	M	0.68593	2.085	0.80722	D	1	D;D;D	0.76494	0.993;0.999;0.999	D;D;D	0.80764	0.952;0.994;0.994	T	0.36648	-0.9739	9	0.87932	D	0	.	8.7523	0.34622	0.8441:0.0:0.1559:0.0	.	3147;3216;3216	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	V	3147;3216;3216	ENSP00000334319:L3216V;ENSP00000388393:L3216V	ENSP00000334319:L3216V	L	-	1	2	PCLO	82418194	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.811000	0.38942	0.875000	0.35847	0.260000	0.18958	TTG	PCLO	-	NULL	ENSG00000186472		0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0.00	39	0	A	NM_014510		82580258	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	18.18	27	6	SNP	1.000	C
PCNT	5116	genome.wustl.edu	37	21	47849958	47849958	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr21:47849958G>T	ENST00000359568.5	+	36	7832	c.7725G>T	c.(7723-7725)aaG>aaT	p.K2575N	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2575					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)					AGCAGGAGAAGTGCATTGCTG	0.522																																																	0													92.0	87.0	89.0					21																	47849958		2203	4300	6503	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.7725G>T	21.37:g.47849958G>T	ENSP00000352572:p.Lys2575Asn		O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.K2575N	ENST00000359568.5	37	c.7725	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315983	0.23908	.	.	ENSG00000160299	ENST00000359568	T	0.01705	4.68	4.08	-7.39	0.01402	.	.	.	.	.	T	0.05410	0.0143	L	0.59436	1.845	0.20074	N	0.999935	D;D	0.76494	0.995;0.999	D;D	0.66084	0.919;0.941	T	0.00367	-1.1785	9	0.66056	D	0.02	.	11.1955	0.48711	0.2635:0.0:0.6378:0.0988	.	2457;2575	O95613-2;O95613	.;PCNT_HUMAN	N	2575	ENSP00000352572:K2575N	ENSP00000352572:K2575N	K	+	3	2	PCNT	46674386	0.048000	0.20356	0.037000	0.18230	0.028000	0.11728	-0.261000	0.08694	-1.653000	0.01500	-0.379000	0.06801	AAG	PCNT	-	NULL	ENSG00000160299		0.522	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	-	0.00	47	0	G	NM_006031		47849958	+1	tier1	-	no_errors	ENST00000359568	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.237	T
PHF20	51230	genome.wustl.edu	37	20	34443197	34443197	+	Intron	SNP	G	G	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr20:34443197G>T	ENST00000374012.3	+	5	469				Y_RNA_ENST00000362806.1_RNA|PHF20_ENST00000439301.1_Intron|PHF20_ENST00000481202.1_Intron			Q9BVI0	PHF20_HUMAN	PHD finger protein 20						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GTAAAAACAGGAACCCAGACC	0.383																																																	0													49.0	46.0	47.0					20																	34443197		876	1991	2867	SO:0001627	intron_variant	0			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.341-3027G>T	20.37:g.34443197G>T			A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	RNA	SNP	-	NULL	ENST00000374012.3	37	NULL	CCDS13268.1	20																																																																																			PHF20	-	-	ENSG00000025293		0.383	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF20	HGNC	protein_coding	OTTHUMT00000078949.2	-	0.00	73	0	G	NM_016436		34443197	+1	tier1	-	no_errors	ENST00000486408	ensembl	human	known	74_37	rna	7.84	47	4	SNP	0.132	T
EYS	346007	genome.wustl.edu	37	6	64487856	64487856	+	Intron	SNP	G	G	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr6:64487856G>A	ENST00000370621.3	-	40	8425				EYS_ENST00000370616.2_Intron|PHF3_ENST00000420043.1_3'UTR|EYS_ENST00000503581.1_Intron			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)						detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CAGTTAGAGTGCAAACAACCT	0.373																																																	0													118.0	88.0	97.0					6																	64487856		692	1591	2283	SO:0001627	intron_variant	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.7898+42C>T	6.37:g.64487856G>A			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	RNA	SNP	-	NULL	ENST00000370621.3	37	NULL		6																																																																																			PHF3	-	-	ENSG00000118482		0.373	EYS-001	KNOWN	basic	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000351351.3	-	0.00	38	0	G	XM_294050		64487856	+1	tier1	-	no_errors	ENST00000420043	ensembl	human	putative	74_37	rna	6.90	54	4	SNP	0.000	A
PIEZO2	63895	genome.wustl.edu	37	18	10681730	10681730	+	Silent	SNP	G	G	A	rs112914683		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr18:10681730G>A	ENST00000503781.3	-	47	7367	c.7368C>T	c.(7366-7368)gcC>gcT	p.A2456A	PIEZO2_ENST00000302079.6_Silent_p.A2393A|PIEZO2_ENST00000581680.1_5'Flank|PIEZO2_ENST00000285141.4_Silent_p.A248A|PIEZO2_ENST00000538948.1_Silent_p.A413A|PIEZO2_ENST00000580640.1_Silent_p.A2481A	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2456					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										GGCTTTGTTGGGCACTCATTG	0.378																																																	0													143.0	137.0	139.0					18																	10681730		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.7368C>T	18.37:g.10681730G>A			B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	pfam_Piezo	p.A413	ENST00000503781.3	37	c.1239		18																																																																																			PIEZO2	-	pfam_Piezo	ENSG00000154864		0.378	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4		0.00	42	0	G	NM_022068		10681730	-1			no_errors	ENST00000538948	ensembl	human	known	74_37	silent	13.16	33	5	SNP	1.000	A
PIK3CD	5293	genome.wustl.edu	37	1	9775790	9775790	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:9775790G>T	ENST00000377346.4	+	4	528	c.333G>T	c.(331-333)aaG>aaT	p.K111N	PIK3CD_ENST00000361110.2_Missense_Mutation_p.K111N|PIK3CD_ENST00000536656.1_Missense_Mutation_p.K111N|PIK3CD_ENST00000543390.1_5'Flank	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	111					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GCGTGAAGAAGCTCATCAACT	0.672																																																	0													65.0	66.0	66.0					1																	9775790		2203	4299	6502	SO:0001583	missense	0				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.333G>T	1.37:g.9775790G>T	ENSP00000366563:p.Lys111Asn		A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.K111N	ENST00000377346.4	37	c.333	CCDS104.1	1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494268	0.85069	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.45668	0.89;0.89;0.89	5.83	4.91	0.64330	.	0.093310	0.85682	D	0.000000	T	0.48892	0.1525	M	0.62209	1.925	0.80722	D	1	B;P;P	0.49358	0.001;0.923;0.783	B;P;B	0.48524	0.005;0.58;0.39	T	0.52909	-0.8512	10	0.62326	D	0.03	-29.6464	12.8142	0.57657	0.0764:0.0:0.9236:0.0	.	111;111;111	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	N	111	ENSP00000446444:K111N;ENSP00000366563:K111N;ENSP00000354410:K111N	ENSP00000353766:K111N	K	+	3	2	PIK3CD	9698377	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.459000	0.53021	1.469000	0.48083	0.563000	0.77884	AAG	PIK3CD	-	NULL	ENSG00000171608		0.672	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CD	HGNC	protein_coding	OTTHUMT00000004235.1	-	0.00	42	0	G	NM_005026		9775790	+1	tier1	-	no_errors	ENST00000536656	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T
PIP5K1C	23396	genome.wustl.edu	37	19	3644144	3644144	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr19:3644144C>T	ENST00000335312.3	-	12	1539	c.1451G>A	c.(1450-1452)cGg>cAg	p.R484Q	PIP5K1C_ENST00000589578.1_Missense_Mutation_p.R484Q|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.R484Q|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.R484Q	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	484					actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GGCCTCCTCCCGCTCGCTAGG	0.697																																					Esophageal Squamous(135;99 1744 12852 27186 39851)												0													33.0	39.0	37.0					19																	3644144		2203	4299	6502	SO:0001583	missense	0			AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.1451G>A	19.37:g.3644144C>T	ENSP00000335333:p.Arg484Gln		B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.R484Q	ENST00000335312.3	37	c.1451	CCDS32872.1	19	.	.	.	.	.	.	.	.	.	.	C	11.49	1.653772	0.29425	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	T;T;T	0.27256	1.7;1.71;1.68	4.66	4.66	0.58398	.	0.132898	0.48286	D	0.000193	T	0.15739	0.0379	N	0.25647	0.755	0.29178	N	0.876687	B;B	0.20550	0.046;0.015	B;B	0.19148	0.024;0.004	T	0.06991	-1.0796	10	0.30854	T	0.27	-19.9618	6.8428	0.23973	0.0:0.7964:0.0:0.2036	.	484;484	O60331-3;O60331	.;PI51C_HUMAN	Q	484	ENSP00000335333:R484Q;ENSP00000445992:R484Q;ENSP00000444779:R484Q	ENSP00000335333:R484Q	R	-	2	0	PIP5K1C	3595144	0.954000	0.32549	0.960000	0.40013	0.022000	0.10575	3.439000	0.52878	2.146000	0.66826	0.491000	0.48974	CGG	PIP5K1C	-	NULL	ENSG00000186111		0.697	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PIP5K1C	HGNC	protein_coding	OTTHUMT00000453432.2	-	0.00	60	0	C	NM_012398		3644144	-1	tier1	-	no_errors	ENST00000537021	ensembl	human	known	74_37	missense	20.55	57	15	SNP	1.000	T
PNN	5411	genome.wustl.edu	37	14	39650489	39650489	+	Nonsense_Mutation	SNP	G	G	T	rs145307846	byFrequency	TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr14:39650489G>T	ENST00000216832.4	+	9	1643	c.1576G>T	c.(1576-1578)Gag>Tag	p.E526*	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	526					cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TTTACTACCTGAGAGGAAGGA	0.473																																																	0													142.0	148.0	146.0					14																	39650489		2203	4300	6503	SO:0001587	stop_gained	0			U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.1576G>T	14.37:g.39650489G>T	ENSP00000216832:p.Glu526*		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Nonsense_Mutation	SNP	pfam_Pinin_SDK_N,pfam_Pinin_SDK_MemA	p.E526*	ENST00000216832.4	37	c.1576	CCDS9671.1	14	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950615	0.92660	.	.	ENSG00000100941	ENST00000216832	.	.	.	6.16	6.16	0.99307	.	0.124815	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-5.8241	11.5872	0.50925	0.0798:0.0:0.9202:0.0	.	.	.	.	X	526	.	ENSP00000216832:E526X	E	+	1	0	PNN	38720240	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.997000	0.76270	2.937000	0.99478	0.650000	0.86243	GAG	PNN	-	NULL	ENSG00000100941		0.473	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNN	HGNC	protein_coding	OTTHUMT00000276776.2		0.00	38	0	G	NM_002687		39650489	+1			no_errors	ENST00000216832	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	1.000	T
PRKACA	5566	genome.wustl.edu	37	19	14208265	14208265	+	Missense_Mutation	SNP	G	G	T	rs34988264		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr19:14208265G>T	ENST00000308677.4	-	8	869	c.673C>A	c.(673-675)Ctg>Atg	p.L225M	PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Missense_Mutation_p.L217M	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	225	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						AGAACCCCCAGGGCCCACCAG	0.617																																																	0													37.0	41.0	40.0					19																	14208265		2203	4300	6503	SO:0001583	missense	0				CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.673C>A	19.37:g.14208265G>T	ENSP00000309591:p.Leu225Met		Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L225M	ENST00000308677.4	37	c.673	CCDS12304.1	19	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105557	0.77096	.	.	ENSG00000072062	ENST00000308677;ENST00000350356;ENST00000535695;ENST00000536649	T	0.11604	2.76	4.54	3.5	0.40072	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	0.33253	U	0.005107	T	0.24928	0.0605	M	0.84773	2.715	0.38701	D	0.952988	P;B;P	0.40332	0.556;0.318;0.713	B;P;B	0.48400	0.297;0.576;0.4	T	0.05484	-1.0882	10	0.56958	D	0.05	.	10.2998	0.43646	0.0987:0.0:0.9012:0.0	.	167;225;217	B7Z708;P17612;P17612-2	.;KAPCA_HUMAN;.	M	225;217;225;167	ENSP00000309591:L225M	ENSP00000309591:L225M	L	-	1	2	PRKACA	14069265	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	3.900000	0.56295	0.891000	0.36235	0.591000	0.81541	CTG	PRKACA	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000072062		0.617	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKACA	HGNC	protein_coding	OTTHUMT00000459004.1	-	0.00	24	0	G	NM_002730		14208265	-1	tier1	-	no_errors	ENST00000308677	ensembl	human	known	74_37	missense	20.83	19	5	SNP	1.000	T
PROB1	389333	genome.wustl.edu	37	5	138729546	138729546	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr5:138729546A>T	ENST00000434752.2	-	1	1339	c.1225T>A	c.(1225-1227)Tgc>Agc	p.C409S		NM_001161546.1	NP_001155018.1	E7EW31	PROB1_HUMAN	proline-rich basic protein 1	409	Pro-rich.																GGCGACGGGCAGCGAGGACCC	0.627																																																	0													39.0	46.0	44.0					5																	138729546		692	1591	2283	SO:0001583	missense	0			AK316483	CCDS54909.1	5q31.2	2012-10-01	2012-10-01	2012-10-01	ENSG00000228672	ENSG00000228672			41906	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 65"""	C5orf65			Standard	NM_001161546		Approved		uc011czc.1	E7EW31		ENST00000434752.2:c.1225T>A	5.37:g.138729546A>T	ENSP00000416033:p.Cys409Ser		B4E007	Missense_Mutation	SNP	NULL	p.C409S	ENST00000434752.2	37	c.1225	CCDS54909.1	5	.	.	.	.	.	.	.	.	.	.	A	24.0	4.477014	0.84640	.	.	ENSG00000228672	ENST00000434752	.	.	.	3.82	1.38	0.22167	.	.	.	.	.	T	0.16727	0.0402	L	0.29908	0.895	0.23859	N	0.996649	P	0.46784	0.884	P	0.44897	0.463	T	0.09015	-1.0694	8	0.05436	T	0.98	.	1.134	0.01751	0.5137:0.1939:0.1053:0.1871	.	409	E7EW31	CE065_HUMAN	S	409	.	ENSP00000416033:C409S	C	-	1	0	AC135457.1	138757445	0.000000	0.05858	0.774000	0.31636	0.787000	0.44495	-0.006000	0.12833	0.295000	0.22570	0.459000	0.35465	TGC	PROB1	-	NULL	ENSG00000228672		0.627	PROB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROB1	HGNC	protein_coding	OTTHUMT00000470735.1	-	0.00	46	0	A	NM_001161546		138729546	-1	tier1	-	no_errors	ENST00000434752	ensembl	human	known	74_37	missense	24.14	22	7	SNP	0.970	T
PRRC2C	23215	genome.wustl.edu	37	1	171511148	171511149	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:171511148_171511149insA	ENST00000338920.4	+	16	4774_4775	c.4537_4538insA	c.(4537-4539)gaafs	p.E1513fs	PRRC2C_ENST00000426496.2_Frame_Shift_Ins_p.E1513fs|PRRC2C_ENST00000367742.3_Frame_Shift_Ins_p.E1515fs|PRRC2C_ENST00000392078.3_Frame_Shift_Ins_p.E1515fs	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1513					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AGAGAGGGATGAAAAAAAAAAT	0.391																																																	0																																										SO:0001589	frameshift_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.4547dupA	1.37:g.171511158_171511158dupA	ENSP00000343629:p.Glu1513fs		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Frame_Shift_Ins	INS	pfam_BAT2_N	p.N1518fs	ENST00000338920.4	37	c.4543_4544	CCDS1296.2	1																																																																																			PRRC2C	-	NULL	ENSG00000117523		0.391	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4		0.00	12	0	-	NM_015172		171511149	+1	tier1		no_errors	ENST00000392078	ensembl	human	known	74_37	frame_shift_ins	23.08	10	3	INS	1.000:1.000	A
PTPRU	10076	genome.wustl.edu	37	1	29647330	29647331	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:29647330_29647331CC>AA	ENST00000345512.3	+	27	3980_3981	c.3851_3852CC>AA	c.(3850-3852)tCC>tAA	p.S1284*	PTPRU_ENST00000323874.8_Nonsense_Mutation_p.S1280*|PTPRU_ENST00000373779.3_Nonsense_Mutation_p.S1274*|PTPRU_ENST00000460170.2_Nonsense_Mutation_p.S1280*|PTPRU_ENST00000428026.2_Nonsense_Mutation_p.S1271*|PTPRU_ENST00000356870.3_Nonsense_Mutation_p.S1280*	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1284	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)		CAGTCCAACTCCGCCTGGGTGA	0.629																																																	0																																										SO:0001587	stop_gained	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	Exception_encountered	1.37:g.29647330_29647331delinsAA	ENSP00000334941:p.Ser1284*		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation|Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.S1284Y|p.S1284	ENST00000345512.3	37	c.3851|c.3852	CCDS334.1	1																																																																																			PTPRU	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000060656		0.629	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	-	0.00	46|45	0	C			29647330|29647331	+1	tier1	-	no_errors	ENST00000345512	ensembl	human	known	74_37	missense|silent	14.93|15.38	57|55	10	SNP	0.999|0.151	A
PTPRF	5792	genome.wustl.edu	37	1	44019257	44019257	+	Silent	SNP	G	G	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:44019257G>A	ENST00000359947.4	+	4	526	c.186G>A	c.(184-186)ccG>ccA	p.P62P	PTPRF_ENST00000372414.3_Silent_p.P62P|PTPRF_ENST00000438120.1_Silent_p.P62P|PTPRF_ENST00000372413.3_Silent_p.P62P	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	62	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AACCCAAGCCGCGCATCACAT	0.592																																																	0													187.0	179.0	182.0					1																	44019257		2203	4300	6503	SO:0001819	synonymous_variant	0			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.186G>A	1.37:g.44019257G>A			D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.P62	ENST00000359947.4	37	c.186	CCDS489.2	1																																																																																			PTPRF	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000142949		0.592	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	-	0.00	59	0	G			44019257	+1	tier1	-	no_errors	ENST00000359947	ensembl	human	known	74_37	silent	15.87	53	10	SNP	0.029	A
RBMXL1	494115	genome.wustl.edu	37	1	89448692	89448692	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:89448692G>A	ENST00000321792.5	-	2	1245	c.818C>T	c.(817-819)tCa>tTa	p.S273L	RBMXL1_ENST00000399794.2_Missense_Mutation_p.S273L|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000413769.1_5'Flank	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	273	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										TGGATGATCTGAATAGTCACG	0.458																																																	0													218.0	206.0	210.0					1																	89448692		2203	4300	6503	SO:0001583	missense	0			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.818C>T	1.37:g.89448692G>A	ENSP00000318415:p.Ser273Leu			Missense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.S273L	ENST00000321792.5	37	c.818	CCDS716.1	1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041723	0.35989	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.76709	-1.04;-1.04	1.59	0.44	0.16572	.	0.282244	0.34932	N	0.003566	T	0.48502	0.1503	L	0.58101	1.795	0.21184	N	0.999764	P	0.50710	0.938	B	0.41764	0.366	T	0.54255	-0.8321	10	0.13470	T	0.59	.	7.0199	0.24908	0.0:0.2888:0.7112:0.0	.	273	Q96E39	RBMXL_HUMAN	L	273	ENSP00000318415:S273L;ENSP00000446099:S273L	ENSP00000318415:S273L	S	-	2	0	RBMXL1	89221280	1.000000	0.71417	0.983000	0.44433	0.981000	0.71138	3.750000	0.55157	-0.037000	0.13646	0.306000	0.20318	TCA	RBMXL1	-	NULL	ENSG00000213516		0.458	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL1	HGNC	protein_coding	OTTHUMT00000029403.3	-	0.00	100	0	G	NM_019610		89448692	-1	tier1	-	no_errors	ENST00000321792	ensembl	human	known	74_37	missense	18.18	81	18	SNP	0.998	A
RCOR1	23186	genome.wustl.edu	37	14	103180893	103180893	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr14:103180893C>T	ENST00000570597.1	+	8	983	c.983C>T	c.(982-984)gCc>gTc	p.A328V	RCOR1_ENST00000262241.6_Missense_Mutation_p.A331V			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	328	Interaction with KDM1A.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						TCTGCCAATGCCACTGCTGCT	0.403																																																	0													105.0	94.0	97.0					14																	103180893		2203	4300	6503	SO:0001583	missense	0			AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.983C>T	14.37:g.103180893C>T	ENSP00000459789:p.Ala328Val		Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom,prints_Antifreeze_1	p.A331V	ENST00000570597.1	37	c.992		14	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186809	0.78789	.	.	ENSG00000089902	ENST00000262241	.	.	.	6.07	6.07	0.98685	.	0.104980	0.64402	D	0.000005	T	0.42720	0.1215	L	0.40543	1.245	0.58432	D	0.999992	P	0.46621	0.881	B	0.29176	0.099	T	0.48581	-0.9023	9	0.51188	T	0.08	-16.9987	20.6439	0.99570	0.0:1.0:0.0:0.0	.	328	Q9UKL0	RCOR1_HUMAN	V	328	.	ENSP00000262241:A328V	A	+	2	0	RCOR1	102250646	0.999000	0.42202	0.994000	0.49952	0.978000	0.69477	5.614000	0.67695	2.884000	0.98904	0.655000	0.94253	GCC	RCOR1	-	NULL	ENSG00000089902		0.403	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	RCOR1	HGNC	protein_coding			0.00	18	0	C	NM_015156		103180893	+1			no_errors	ENST00000262241	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	T
REXO1L1P	254958	genome.wustl.edu	37	8	86575286	86575286	+	Silent	SNP	T	T	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr8:86575286T>A	ENST00000379010.2	-	1	440	c.441A>T	c.(439-441)gcA>gcT	p.A147A		NM_172239.4	NP_758439.4														endometrium(1)|lung(4)	5						TGTCCACAAATGCTGAGGCCT	0.657																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000379010.2:c.441A>T	8.37:g.86575286T>A				Silent	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.A147	ENST00000379010.2	37	c.441		8																																																																																			REXO1L1	-	NULL	ENSG00000205176		0.657	REXO1L1-001	PUTATIVE	basic|appris_principal	protein_coding	REXO1L1	HGNC	protein_coding	OTTHUMT00000381106.1		0.00	122	0	T			86575286	-1			no_errors	ENST00000379010	ensembl	human	putative	74_37	silent	5.11	130	7	SNP	0.000	A
RHOD	29984	genome.wustl.edu	37	11	66834221	66834221	+	Missense_Mutation	SNP	A	A	G	rs200747179		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr11:66834221A>G	ENST00000308831.2	+	3	318	c.233A>G	c.(232-234)tAt>tGt	p.Y78C	RHOD_ENST00000533360.1_Missense_Mutation_p.Y78C|RHOD_ENST00000532559.1_Intron	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D	78					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						CAAGATGACTATGACCGCCTG	0.592																																																	0								A	CYS/TYR	1,4399	2.1+/-5.4	0,1,2199	131.0	119.0	123.0		233	4.9	1.0	11		123	1,8589	1.2+/-3.3	0,1,4294	yes	missense	RHOD	NM_014578.3	194	0,2,6493	GG,GA,AA		0.0116,0.0227,0.0154	probably-damaging	78/211	66834221	2,12988	2200	4295	6495	SO:0001583	missense	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.233A>G	11.37:g.66834221A>G	ENSP00000308576:p.Tyr78Cys			Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,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.Y78C	ENST00000308831.2	37	c.233	CCDS8155.1	11	.	.	.	.	.	.	.	.	.	.	A	14.05	2.419142	0.42918	2.27E-4	1.16E-4	ENSG00000173156	ENST00000308831;ENST00000533360	D;D	0.81659	-1.52;-1.52	4.9	4.9	0.64082	Small GTP-binding protein domain (1);	0.000000	0.43579	D	0.000560	D	0.91566	0.7336	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93026	0.6444	10	0.87932	D	0	-11.6151	10.826	0.46633	1.0:0.0:0.0:0.0	.	78	O00212	RHOD_HUMAN	C	78	ENSP00000308576:Y78C;ENSP00000431167:Y78C	ENSP00000308576:Y78C	Y	+	2	0	RHOD	66590797	1.000000	0.71417	0.996000	0.52242	0.119000	0.20118	6.447000	0.73465	2.061000	0.61500	0.533000	0.62120	TAT	RHOD	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000173156		0.592	RHOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOD	HGNC	protein_coding	OTTHUMT00000393136.1		0.00	24	0	A	NM_014578		66834221	+1			no_errors	ENST00000308831	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	G
RIMS1	22999	genome.wustl.edu	37	6	73043353	73043353	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr6:73043353C>T	ENST00000521978.1	+	29	4181	c.4181C>T	c.(4180-4182)tCc>tTc	p.S1394F	RIMS1_ENST00000401910.3_Missense_Mutation_p.S714F|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000491071.2_Missense_Mutation_p.S1217F|RIMS1_ENST00000538414.1_Missense_Mutation_p.S200F|RIMS1_ENST00000348717.5_Missense_Mutation_p.S1177F|RIMS1_ENST00000517960.1_Missense_Mutation_p.S1177F|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000264839.7_Missense_Mutation_p.S1243F	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1394	Ser-rich.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TCAGGAAGATCCATCATGAAG	0.458																																																	0													67.0	67.0	67.0					6																	73043353		1975	4164	6139	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4181C>T	6.37:g.73043353C>T	ENSP00000428417:p.Ser1394Phe		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.S1394F	ENST00000521978.1	37	c.4181	CCDS47449.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.01|15.01	2.705699|2.705699	0.48412|0.48412	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000522211|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000264839;ENST00000517960;ENST00000521978;ENST00000401910;ENST00000453976;ENST00000370420;ENST00000538414	.|T;T;T;T;T;T;T;T;T	.|0.19532	.|2.42;2.55;2.49;2.55;2.48;2.55;2.37;2.15;2.14	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.301012	.|0.27429	.|N	.|0.019406	T|T	0.08670|0.08670	0.0215|0.0215	L|L	0.36672|0.36672	1.1|1.1	0.24160|0.24160	N|N	0.995668|0.995668	.|B;B;B;B;B;B;B	.|0.25719	.|0.132;0.026;0.132;0.01;0.026;0.087;0.09	.|B;B;B;B;B;B;B	.|0.23716	.|0.048;0.015;0.048;0.009;0.007;0.033;0.047	T|T	0.06826|0.06826	-1.0805|-1.0805	5|10	.|0.62326	.|D	.|0.03	-9.0403|-9.0403	12.4511|12.4511	0.55677|0.55677	0.0:0.9188:0.0:0.0812|0.0:0.9188:0.0:0.0812	.|.	.|200;1243;714;1177;470;1217;1394	.|B7Z7W2;E9PHR1;E9PF48;E7ENC2;Q5JY21;C9JNW6;Q86UR5	.|.;.;.;.;.;.;RIMS1_HUMAN	S|F	312|1217;1243;1217;1177;1243;1177;1394;714;559;442;200	.|ENSP00000430101:S1217F;ENSP00000275037:S1177F;ENSP00000264839:S1243F;ENSP00000429959:S1177F;ENSP00000428417:S1394F;ENSP00000385649:S714F;ENSP00000389503:S559F;ENSP00000359448:S442F;ENSP00000439730:S200F	.|ENSP00000264839:S1243F	P|S	+|+	1|2	0|0	RIMS1|RIMS1	73100074|73100074	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	1.073000|1.073000	0.30691|0.30691	2.683000|2.683000	0.91414|0.91414	0.650000|0.650000	0.86243|0.86243	CCA|TCC	RIMS1	-	NULL	ENSG00000079841		0.458	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1		0.00	30	0	C			73043353	+1			no_errors	ENST00000521978	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T
RNF166	115992	genome.wustl.edu	37	16	88766056	88766056	+	Missense_Mutation	SNP	C	C	T	rs552205763		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr16:88766056C>T	ENST00000312838.4	-	3	492	c.397G>A	c.(397-399)Gtg>Atg	p.V133M	RNF166_ENST00000567844.1_Missense_Mutation_p.V52M|RNF166_ENST00000537718.2_Missense_Mutation_p.V24M|RNF166_ENST00000568683.1_Missense_Mutation_p.V24M|RP5-1142A6.5_ENST00000561699.1_RNA|RNF166_ENST00000562499.1_5'Flank|RNF166_ENST00000541206.2_Missense_Mutation_p.V24M	NM_178841.3	NP_849163.1	Q96A37	RN166_HUMAN	ring finger protein 166	133							zinc ion binding (GO:0008270)			endometrium(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0476)		GTGGGCACCACGGGGACGAAC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		20064	0.001		0.0	False		,,,				2504	0.0																0													123.0	96.0	105.0					16																	88766056		2197	4299	6496	SO:0001583	missense	0			AK057106	CCDS10969.1, CCDS54056.1, CCDS54057.1	16q24.3	2013-01-09			ENSG00000158717	ENSG00000158717		"""RING-type (C3HC4) zinc fingers"""	28856	protein-coding gene	gene with protein product						12477932	Standard	NM_178841		Approved	MGC2647, MGC14381	uc002flk.3	Q96A37	OTTHUMG00000137863	ENST00000312838.4:c.397G>A	16.37:g.88766056C>T	ENSP00000326095:p.Val133Met		B3KQ03|D3DX75|H3BTU8|Q96DM0	Missense_Mutation	SNP	pfam_Di19_Zn_binding,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V133M	ENST00000312838.4	37	c.397	CCDS10969.1	16	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622661	0.87460	.	.	ENSG00000158717	ENST00000312838;ENST00000537718;ENST00000541206	T	0.16743	2.32	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.32585	0.0834	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	P	0.62885	0.908	T	0.02358	-1.1171	10	0.36615	T	0.2	-10.7722	16.9747	0.86310	0.0:1.0:0.0:0.0	.	133	Q96A37	RN166_HUMAN	M	133;52;24	ENSP00000326095:V133M	ENSP00000326095:V133M	V	-	1	0	RNF166	87293557	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	6.893000	0.75649	2.115000	0.64714	0.313000	0.20887	GTG	RNF166	-	NULL	ENSG00000158717		0.617	RNF166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF166	HGNC	protein_coding	OTTHUMT00000269544.1	-	0.00	36	0	C	NM_178841		88766056	-1	tier1	-	no_errors	ENST00000312838	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T
RNF19A	25897	genome.wustl.edu	37	8	101300299	101300299	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr8:101300299T>C	ENST00000519449.1	-	3	420	c.104A>G	c.(103-105)cAt>cGt	p.H35R	RNF19A_ENST00000341084.2_Missense_Mutation_p.H35R	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	35					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)			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)			CATTTGCCGATGTAAACTCAT	0.388																																																	0													69.0	69.0	69.0					8																	101300299		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.104A>G	8.37:g.101300299T>C	ENSP00000428968:p.His35Arg		A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.H35R	ENST00000519449.1	37	c.104	CCDS6286.1	8	.	.	.	.	.	.	.	.	.	.	T	18.80	3.700894	0.68501	.	.	ENSG00000034677	ENST00000519449;ENST00000341084;ENST00000519527;ENST00000523167;ENST00000522369;ENST00000432381;ENST00000517584	D;D	0.86164	-2.08;-2.08	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000002	D	0.82458	0.5041	L	0.32530	0.975	0.80722	D	1	B	0.22080	0.064	B	0.20767	0.031	T	0.79783	-0.1658	10	0.87932	D	0	.	15.7401	0.77887	0.0:0.0:0.0:1.0	.	35	Q9NV58	RN19A_HUMAN	R	35;35;35;35;35;35;4	ENSP00000428968:H35R;ENSP00000342667:H35R	ENSP00000342667:H35R	H	-	2	0	RNF19A	101369475	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.065000	0.76727	2.107000	0.64212	0.528000	0.53228	CAT	RNF19A	-	NULL	ENSG00000034677		0.388	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF19A	HGNC	protein_coding	OTTHUMT00000380004.1	-	0.00	25	0	T	NM_015435		101300299	-1	tier1	-	no_errors	ENST00000341084	ensembl	human	known	74_37	missense	23.08	30	9	SNP	1.000	C
RNLS	55328	genome.wustl.edu	37	10	90045196	90045196	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr10:90045196C>A	ENST00000331772.4	-	7	966	c.944G>T	c.(943-945)gGa>gTa	p.G315V	RNLS_ENST00000371947.3_Intron|RNLS_ENST00000437752.1_Intron	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	315					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						TCCATCCCCTCCACATGCAAG	0.408																																																	0													132.0	114.0	120.0					10																	90045196		2203	4300	6503	SO:0001583	missense	0			BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.944G>T	10.37:g.90045196C>A	ENSP00000332530:p.Gly315Val		Q9BS33|Q9NUP8	Missense_Mutation	SNP	pfam_Amino_oxidase	p.G315V	ENST00000331772.4	37	c.944	CCDS31239.1	10	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859483	0.71834	.	.	ENSG00000184719	ENST00000331772	D	0.95482	-3.72	5.7	4.78	0.61160	.	0.107658	0.64402	D	0.000006	D	0.97349	0.9133	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97530	1.0079	10	0.54805	T	0.06	.	15.3972	0.74805	0.0:0.8598:0.1402:0.0	.	315	Q5VYX0	RNLS_HUMAN	V	315	ENSP00000332530:G315V	ENSP00000332530:G315V	G	-	2	0	RNLS	90035176	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.075000	0.50073	1.372000	0.46190	0.650000	0.86243	GGA	RNLS	-	NULL	ENSG00000184719		0.408	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RNLS	HGNC	protein_coding	OTTHUMT00000049250.1	-	0.00	60	0	C	NM_018363		90045196	-1	tier1	-	no_errors	ENST00000331772	ensembl	human	known	74_37	missense	7.06	79	6	SNP	1.000	A
RRAGC	64121	genome.wustl.edu	37	1	39317319	39317319	+	Silent	SNP	G	G	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:39317319G>A	ENST00000373001.3	-	5	1043	c.867C>T	c.(865-867)atC>atT	p.I289I		NM_022157.2	NP_071440.1			Ras-related GTP binding C									p.I289I(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				TTACAACATCGATCATGTCAC	0.348																																																	1	Substitution - coding silent(1)	large_intestine(1)											125.0	118.0	121.0					1																	39317319		2203	4300	6503	SO:0001819	synonymous_variant	0			AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954			19902	protein-coding gene	gene with protein product		608267				11073942	Standard	NM_022157		Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.867C>T	1.37:g.39317319G>A				Silent	SNP	pfam_Gtr1_RagA,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase	p.I289	ENST00000373001.3	37	c.867	CCDS430.1	1																																																																																			RRAGC	-	pfam_Gtr1_RagA	ENSG00000116954		0.348	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAGC	HGNC	protein_coding	OTTHUMT00000001222.2		0.00	38	0	G	NM_022157		39317319	-1			no_errors	ENST00000373001	ensembl	human	known	74_37	silent	5.56	34	2	SNP	1.000	A
SEL1L3	23231	genome.wustl.edu	37	4	25823745	25823745	+	Missense_Mutation	SNP	C	C	T	rs147554165	byFrequency	TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr4:25823745C>T	ENST00000399878.3	-	7	1285	c.1163G>A	c.(1162-1164)cGg>cAg	p.R388Q	SEL1L3_ENST00000264868.5_Missense_Mutation_p.R353Q|SEL1L3_ENST00000502949.1_Missense_Mutation_p.R235Q	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	388						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GAAATCCTCCCGGAAGCTAGA	0.438													C|||	3	0.000599042	0.0023	0.0	5008	,	,		20795	0.0		0.0	False		,,,				2504	0.0																0								C	GLN/ARG	0,3716		0,0,1858	71.0	70.0	70.0		1163	-1.2	0.2	4	dbSNP_134	70	1,8219		0,1,4109	no	missense	SEL1L3	NM_015187.3	43	0,1,5967	TT,TC,CC		0.0122,0.0,0.0084	benign	388/1133	25823745	1,11935	1858	4110	5968	SO:0001583	missense	0			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1163G>A	4.37:g.25823745C>T	ENSP00000382767:p.Arg388Gln		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like	p.R388Q	ENST00000399878.3	37	c.1163	CCDS47037.1	4	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	6.802	0.517014	0.13005	0.0	1.22E-4	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.15718	2.4;2.4;2.4	5.81	-1.18	0.09617	.	0.812999	0.11631	N	0.544787	T	0.06917	0.0176	L	0.35414	1.06	0.09310	N	1	B	0.15930	0.015	B	0.08055	0.003	T	0.33420	-0.9869	10	0.27785	T	0.31	-1.6042	3.9319	0.09290	0.2517:0.3883:0.0:0.3601	.	388	Q68CR1	SE1L3_HUMAN	Q	388;353;235	ENSP00000382767:R388Q;ENSP00000264868:R353Q;ENSP00000425438:R235Q	ENSP00000264868:R353Q	R	-	2	0	SEL1L3	25432843	0.035000	0.19736	0.178000	0.23040	0.647000	0.38526	0.126000	0.15769	-0.676000	0.05238	-0.152000	0.13540	CGG	SEL1L3	-	superfamily_ConA-like_lec_gl_sf	ENSG00000091490		0.438	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	HGNC	protein_coding	OTTHUMT00000360261.1		0.00	44	0	C	NM_015187		25823745	-1			no_errors	ENST00000399878	ensembl	human	known	74_37	missense	15.00	34	6	SNP	0.219	T
SF1	7536	genome.wustl.edu	37	11	64533469	64533469	+	Frame_Shift_Del	DEL	C	C	-			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr11:64533469delC	ENST00000377390.3	-	13	2078	c.1741delG	c.(1741-1743)gccfs	p.A581fs	SF1_ENST00000377394.3_Intron|SF1_ENST00000422298.2_Intron|SF1_ENST00000377387.1_Intron|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000227503.9_Intron|SF1_ENST00000433274.2_Frame_Shift_Del_p.A555fs|SF1_ENST00000334944.5_Frame_Shift_Del_p.A581fs	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	581	Pro-rich.				Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GGGGGAGGGGCCCCAGGCGGC	0.711																																																	0													7.0	10.0	9.0					11																	64533469		2010	4031	6041	SO:0001589	frameshift_variant	0			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.1741delG	11.37:g.64533469delC	ENSP00000366607:p.Ala581fs		B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Frame_Shift_Del	DEL	pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1	p.A581fs	ENST00000377390.3	37	c.1741	CCDS31599.1	11																																																																																			SF1	-	NULL	ENSG00000168066		0.711	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SF1	HGNC	protein_coding	OTTHUMT00000143242.1		0.00	8	0	C	NM_004630		64533469	-1	tier1		no_errors	ENST00000377390	ensembl	human	known	74_37	frame_shift_del	22.22	7	2	DEL	1.000	-
SH2D2A	9047	genome.wustl.edu	37	1	156779493	156779494	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:156779493_156779494GC>AA	ENST00000368199.3	-	6	826_827	c.673_674GC>TT	c.(673-675)GCc>TTc	p.A225F	SH2D2A_ENST00000392306.2_Missense_Mutation_p.A235F|SH2D2A_ENST00000368198.3_Missense_Mutation_p.A207F	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	225	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)	p.A225S(1)|p.A235S(1)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGGGACTGGGGCTTGCCCCTGT	0.609																																																	2	Substitution - Missense(2)	lung(2)																																								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.673_674delinsAA	1.37:g.156779493_156779494delinsAA	ENSP00000357182:p.Ala225Phe		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.A235V|p.A235S	ENST00000368199.3	37	c.704|c.703	CCDS1159.1	1																																																																																			SH2D2A	-	NULL	ENSG00000027869		0.609	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SH2D2A	HGNC	protein_coding	OTTHUMT00000098982.1	-	0.00	56	0	G|C	NM_003975		156779493|156779494	-1	tier1	-	no_errors	ENST00000392306	ensembl	human	known	74_37	missense	17.50|17.72	66|65	14	SNP	0.000	A
SH2D1B	117157	genome.wustl.edu	37	1	162367093	162367093	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:162367093C>A	ENST00000367929.2	-	4	485	c.376G>T	c.(376-378)Gat>Tat	p.D126Y	SH2D1B_ENST00000359567.3_Missense_Mutation_p.D71Y	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	126					leukocyte activation involved in immune response (GO:0002366)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of innate immune response (GO:0045089)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of natural killer cell activation (GO:0032814)	intracellular (GO:0005622)	protein binding, bridging (GO:0030674)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCCACATAATCGCTGTTACTG	0.458																																																	0													95.0	88.0	90.0					1																	162367093		2203	4300	6503	SO:0001583	missense	0			AF484964	CCDS30928.1	1q23.3	2013-02-14			ENSG00000198574	ENSG00000198574		"""SH2 domain containing"""	30416	protein-coding gene	gene with protein product		608510				9000139, 11689425	Standard	NM_053282		Approved	EAT2	uc001gbz.1	O14796	OTTHUMG00000031377	ENST00000367929.2:c.376G>T	1.37:g.162367093C>A	ENSP00000356906:p.Asp126Tyr		B2RBN6|Q5T0L1|Q8NI18|Q969K9	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.D126Y	ENST00000367929.2	37	c.376	CCDS30928.1	1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.230236	0.39399	.	.	ENSG00000198574	ENST00000367929;ENST00000359567	D;D	0.84370	-1.79;-1.84	3.95	3.03	0.35002	.	1.791760	0.03771	N	0.259773	D	0.84795	0.5551	L	0.47716	1.5	0.24601	N	0.993777	D;D	0.89917	0.974;1.0	P;D	0.70487	0.626;0.969	T	0.67488	-0.5658	9	0.62326	D	0.03	-26.0368	7.6304	0.28236	0.0:0.8824:0.0:0.1176	.	71;126	O14796-2;O14796	.;SH21B_HUMAN	Y	126;71	ENSP00000356906:D126Y;ENSP00000352571:D71Y	ENSP00000352571:D71Y	D	-	1	0	SH2D1B	160633717	0.216000	0.23585	0.003000	0.11579	0.002000	0.02628	1.414000	0.34736	0.998000	0.38996	0.563000	0.77884	GAT	SH2D1B	-	NULL	ENSG00000198574		0.458	SH2D1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH2D1B	HGNC	protein_coding	OTTHUMT00000076794.1	-	0.00	24	0	C	NM_053282		162367093	-1	tier1	-	no_errors	ENST00000367929	ensembl	human	known	74_37	missense	21.88	25	7	SNP	0.007	A
SLC23A2	9962	genome.wustl.edu	37	20	4850569	4850569	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr20:4850569delG	ENST00000379333.1	-	12	1625	c.1233delC	c.(1231-1233)cccfs	p.P411fs	SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.P411fs|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.P297fs|SNORA31_ENST00000516287.1_RNA	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	411					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.I412fs*4(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTGCGTGGATGGGGGGGGGTG	0.527																																																	1	Deletion - Frameshift(1)	ovary(1)											65.0	70.0	68.0					20																	4850569		2203	4300	6503	SO:0001589	frameshift_variant	0			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1233delC	20.37:g.4850569delG	ENSP00000368637:p.Pro411fs		B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Frame_Shift_Del	DEL	pfam_Xant/urac/vitC	p.I412fs	ENST00000379333.1	37	c.1233	CCDS13085.1	20																																																																																			SLC23A2	-	pfam_Xant/urac/vitC	ENSG00000089057		0.527	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC23A2	HGNC	protein_coding	OTTHUMT00000077832.1		0.00	25	0	G			4850569	-1	tier1		no_errors	ENST00000338244	ensembl	human	known	74_37	frame_shift_del	11.76	30	4	DEL	0.974	-
SLC6A5	9152	genome.wustl.edu	37	11	20623021	20623021	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr11:20623021C>T	ENST00000525748.1	+	2	623	c.350C>T	c.(349-351)gCg>gTg	p.A117V		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	117					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)	CCCGGCAACGCGCTGCACTGT	0.701																																																	0													39.0	41.0	40.0					11																	20623021		2203	4299	6502	SO:0001583	missense	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.350C>T	11.37:g.20623021C>T	ENSP00000434364:p.Ala117Val		O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.A117V	ENST00000525748.1	37	c.350	CCDS7854.1	11	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285896	0.59867	.	.	ENSG00000165970	ENST00000525748	T	0.73789	-0.78	5.7	4.77	0.60923	.	0.654950	0.13903	N	0.354790	T	0.61148	0.2324	N	0.24115	0.695	0.30676	N	0.75283	B	0.15930	0.015	B	0.11329	0.006	T	0.59984	-0.7351	10	0.46703	T	0.11	.	9.7919	0.40710	0.0:0.7799:0.1432:0.077	.	117	Q9Y345	SC6A5_HUMAN	V	117	ENSP00000434364:A117V	ENSP00000298923:A117V	A	+	2	0	SLC6A5	20579597	0.157000	0.22836	0.986000	0.45419	0.470000	0.32858	3.882000	0.56160	1.375000	0.46248	0.462000	0.41574	GCG	SLC6A5	-	NULL	ENSG00000165970		0.701	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A5	HGNC	protein_coding	OTTHUMT00000387497.2	-	0.00	41	0	C	NM_004211		20623021	+1	tier1	-	no_errors	ENST00000525748	ensembl	human	known	74_37	missense	17.19	53	11	SNP	0.990	T
SNX17	9784	genome.wustl.edu	37	2	27599187	27599187	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr2:27599187G>T	ENST00000233575.2	+	13	1412	c.1190G>T	c.(1189-1191)cGc>cTc	p.R397L	SNX17_ENST00000537606.1_Missense_Mutation_p.R372L|SNX17_ENST00000542478.1_Missense_Mutation_p.R183L|ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000543024.1_Missense_Mutation_p.R183L	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	397	FERM-like.|PTB-like F3 module.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGATGCTGCGCCGGCGGGTG	0.592																																																	0													56.0	65.0	62.0					2																	27599187		2203	4300	6503	SO:0001583	missense	0			D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"""Sorting nexins"""	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1190G>T	2.37:g.27599187G>T	ENSP00000233575:p.Arg397Leu		B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc	p.R397L	ENST00000233575.2	37	c.1190	CCDS1750.1	2	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296137	0.40594	.	.	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.31247	1.92;1.5;1.51;1.5	5.36	5.36	0.76844	.	0.139248	0.64402	D	0.000006	T	0.28333	0.0700	L	0.55481	1.735	0.58432	D	0.999996	B;P;B;P	0.38827	0.451;0.649;0.451;0.465	B;B;B;B	0.28991	0.097;0.097;0.045;0.095	T	0.05716	-1.0868	10	0.33141	T	0.24	-10.4977	17.8169	0.88637	0.0:0.0:1.0:0.0	.	372;385;377;397	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	L	397;183;372;183	ENSP00000233575:R397L;ENSP00000441779:R183L;ENSP00000439208:R372L;ENSP00000442567:R183L	ENSP00000233575:R397L	R	+	2	0	SNX17	27452691	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	4.008000	0.57103	2.797000	0.96272	0.561000	0.74099	CGC	SNX17	-	NULL	ENSG00000115234		0.592	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX17	HGNC	protein_coding	OTTHUMT00000215024.1		0.00	15	0	G	NM_014748		27599187	+1			no_errors	ENST00000233575	ensembl	human	known	74_37	missense	15.62	27	5	SNP	1.000	T
SORBS2	8470	genome.wustl.edu	37	4	186605996	186605996	+	5'UTR	SNP	G	G	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr4:186605996G>A	ENST00000431808.1	-	0	278				SORBS2_ENST00000355634.5_Silent_p.S5S|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000319471.9_5'UTR|SORBS2_ENST00000449407.2_5'UTR|SORBS2_ENST00000284776.7_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2						actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CACACCCACCGCTATCTGGAA	0.463																																					Esophageal Squamous(153;41 2433 9491 36028)												0													64.0	54.0	57.0					4																	186605996		692	1591	2283	SO:0001623	5_prime_UTR_variant	0				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000431808.1:c.-286C>T	4.37:g.186605996G>A			A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.S5	ENST00000431808.1	37	c.15	CCDS3845.1	4																																																																																			SORBS2	-	NULL	ENSG00000154556		0.463	SORBS2-202	KNOWN	basic|CCDS	protein_coding	SORBS2	HGNC	protein_coding		-	0.00	24	0	G	NM_003603		186605996	-1	tier1	-	no_errors	ENST00000355634	ensembl	human	putative	74_37	silent	21.88	25	7	SNP	1.000	A
SPTBN2	6712	genome.wustl.edu	37	11	66458874	66458874	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr11:66458874G>A	ENST00000533211.1	-	27	5777	c.5446C>T	c.(5446-5448)Cgg>Tgg	p.R1816W	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1816W|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1816W			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1816					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TGCTGCACCCGCGCCAGGGCT	0.692																																																	0													34.0	34.0	34.0					11																	66458874		2199	4293	6492	SO:0001583	missense	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5446C>T	11.37:g.66458874G>A	ENSP00000432568:p.Arg1816Trp		O14872|O14873	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.R1816W	ENST00000533211.1	37	c.5446	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941721	0.92526	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.20598	2.06;2.06;2.06	4.76	4.76	0.60689	.	0.069167	0.64402	D	0.000017	T	0.30759	0.0775	L	0.41027	1.25	0.54753	D	0.999985	D	0.89917	1.0	D	0.64776	0.929	T	0.02232	-1.1191	10	0.02654	T	1	.	16.7391	0.85454	0.0:0.0:1.0:0.0	.	1816	O15020	SPTN2_HUMAN	W	1816	ENSP00000432568:R1816W;ENSP00000311489:R1816W;ENSP00000433593:R1816W	ENSP00000311489:R1816W	R	-	1	2	SPTBN2	66215450	0.964000	0.33143	0.971000	0.41717	0.975000	0.68041	5.386000	0.66238	2.480000	0.83734	0.655000	0.94253	CGG	SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000173898		0.692	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	-	0.00	27	0	G	NM_006946		66458874	-1	tier1	-	no_errors	ENST00000309996	ensembl	human	known	74_37	missense	20.63	50	13	SNP	1.000	A
SYNE2	23224	genome.wustl.edu	37	14	64520206	64520206	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr14:64520206G>T	ENST00000344113.4	+	48	9787	c.9575G>T	c.(9574-9576)tGt>tTt	p.C3192F	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.C3225F|SYNE2_ENST00000358025.3_Missense_Mutation_p.C3192F	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3192					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGGACAATTGTGAAGCATTT	0.323																																																	0													74.0	69.0	71.0					14																	64520206		1826	4089	5915	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.9575G>T	14.37:g.64520206G>T	ENSP00000341781:p.Cys3192Phe		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.C3192F	ENST00000344113.4	37	c.9575	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457984	0.26161	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.56941	0.8;0.8;0.43	5.39	4.49	0.54785	.	0.187739	0.38778	N	0.001577	T	0.41858	0.1177	L	0.27053	0.805	0.80722	D	1	P;P	0.39782	0.561;0.688	B;B	0.43103	0.231;0.408	T	0.15407	-1.0438	10	0.22706	T	0.39	.	11.8117	0.52185	0.0809:0.0:0.9191:0.0	.	3192;3192	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	F	3192;3192;3225;3225	ENSP00000350719:C3192F;ENSP00000341781:C3192F;ENSP00000452570:C3225F	ENSP00000261678:C3225F	C	+	2	0	SYNE2	63589959	1.000000	0.71417	0.777000	0.31699	0.520000	0.34377	3.745000	0.55119	2.530000	0.85305	0.462000	0.41574	TGT	SYNE2	-	NULL	ENSG00000054654		0.323	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	-	0.00	50	0	G	NM_182914		64520206	+1	tier1	-	no_errors	ENST00000358025	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.992	T
TDRD15	100129278	genome.wustl.edu	37	2	21361130	21361130	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr2:21361130C>G	ENST00000405799.1	+	4	1121	c.791C>G	c.(790-792)aCt>aGt	p.T264S				B5MCY1	TDR15_HUMAN	tudor domain containing 15	264							hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)										ATTAAATGGACTCCAGAGCTA	0.378																																																	0																																										SO:0001583	missense	0					2p24.1	2013-01-23	2013-01-23	2013-01-23	ENSG00000218819	ENSG00000218819		"""Tudor domain containing"""	45037	protein-coding gene	gene with protein product							Standard	XR_425376		Approved			B5MCY1	OTTHUMG00000151795	ENST00000405799.1:c.791C>G	2.37:g.21361130C>G	ENSP00000384376:p.Thr264Ser			Missense_Mutation	SNP	pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor	p.T264S	ENST00000405799.1	37	c.791		2	.	.	.	.	.	.	.	.	.	.	c	0.018	-1.483613	0.01027	.	.	ENSG00000218819	ENST00000405799	T	0.08807	3.05	5.47	4.32	0.51571	.	.	.	.	.	T	0.03915	0.0110	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29088	-1.0023	5	0.08837	T	0.75	-0.0545	5.0132	0.14322	0.2726:0.0875:0.0:0.6399	.	.	.	.	S	264	ENSP00000384376:T264S	ENSP00000384376:T264S	T	+	2	0	AC010872.2	21214635	0.991000	0.36638	0.999000	0.59377	0.517000	0.34286	2.026000	0.41069	0.919000	0.36945	-0.526000	0.04340	ACT	TDRD15	-	pfam_Tudor	ENSG00000218819		0.378	TDRD15-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	TDRD15	HGNC	protein_coding	OTTHUMT00000323948.1	-	0.00	28	0	C			21361130	+1	tier1	-	no_errors	ENST00000405799	ensembl	human	novel	74_37	missense	35.71	9	5	SNP	0.164	G
TLN2	83660	genome.wustl.edu	37	15	63042648	63042648	+	Silent	SNP	C	C	G			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr15:63042648C>G	ENST00000561311.1	+	33	4397	c.4167C>G	c.(4165-4167)ctC>ctG	p.L1389L	TLN2_ENST00000306829.6_Silent_p.L1389L			Q9Y4G6	TLN2_HUMAN	talin 2	1389					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TTAGTGACCTCTCTTACTTTG	0.418																																																	0													265.0	240.0	248.0					15																	63042648		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.4167C>G	15.37:g.63042648C>G			A6NLB8	Silent	SNP	pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,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_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.L1389	ENST00000561311.1	37	c.4167	CCDS32261.1	15																																																																																			TLN2	-	NULL	ENSG00000171914		0.418	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	-	0.00	85	0	C			63042648	+1	tier1	-	no_errors	ENST00000306829	ensembl	human	known	74_37	silent	15.91	74	14	SNP	1.000	G
TP53	7157	genome.wustl.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248Q	ENST00000269305.4	37	c.743	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	242	0	C	NM_000546		7577538	-1	tier1	rs11540652	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	54.18	214	253	SNP	1.000	T
TMEM235	283999	genome.wustl.edu	37	17	76227704	76227704	+	5'Flank	SNP	C	C	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr17:76227704C>A	ENST00000551068.3	+	0	0				TMEM235_ENST00000421688.1_Silent_p.S50S|TMEM235_ENST00000550981.3_5'Flank|TMEM235_ENST00000586400.1_5'UTR|TMEM235_ENST00000374946.3_5'UTR			A6NFC5	TM235_HUMAN	transmembrane protein 235							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			lung(1)	1						ATCCTCCCTCCtcctctcaag	0.667																																																	0													21.0	23.0	23.0					17																	76227704		692	1591	2283	SO:0001631	upstream_gene_variant	0			BC042066	CCDS56048.1, CCDS56046.1, CCDS56047.1	17q25.3	2011-02-18	2011-02-18	2011-02-18	ENSG00000204278	ENSG00000204278			27563	protein-coding gene	gene with protein product							Standard	NM_001204210		Approved		uc002jvk.3	A6NFC5			17.37:g.76227704C>A	Exception_encountered		C9JRE6	Silent	SNP	NULL	p.S50	ENST00000551068.3	37	c.150	CCDS56046.1	17																																																																																			TMEM235	-	NULL	ENSG00000204278		0.667	TMEM235-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM235	HGNC	protein_coding	OTTHUMT00000408606.1		0.00	52	0	C	NM_001204211		76227704	+1			no_errors	ENST00000421688	ensembl	human	known	74_37	silent	8.00	46	4	SNP	0.004	A
TRIM24	8805	genome.wustl.edu	37	7	138189074	138189074	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr7:138189074C>T	ENST00000343526.4	+	2	619	c.404C>T	c.(403-405)gCa>gTa	p.A135V	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.A135V			O15164	TIF1A_HUMAN	tripartite motif containing 24	135					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						CAAGAATGTGCAGAGAGACAC	0.353																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)												0													121.0	118.0	119.0					7																	138189074		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.404C>T	7.37:g.138189074C>T	ENSP00000340507:p.Ala135Val		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.A135V	ENST00000343526.4	37	c.404	CCDS5847.1	7	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063193	0.76187	.	.	ENSG00000122779	ENST00000343526;ENST00000452999;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.76839	-1.05;-1.04	5.17	5.17	0.71159	Zinc finger, RING/FYVE/PHD-type (1);	0.119930	0.56097	D	0.000023	T	0.79516	0.4459	N	0.25332	0.735	0.41527	D	0.988438	P;D	0.65815	0.457;0.995	B;D	0.66196	0.379;0.942	T	0.73458	-0.3976	10	0.12430	T	0.62	-16.4335	18.4584	0.90729	0.0:1.0:0.0:0.0	.	135;135	O15164;O15164-2	TIF1A_HUMAN;.	V	135;135;46;135;93	ENSP00000340507:A135V;ENSP00000390829:A135V	ENSP00000340507:A135V	A	+	2	0	TRIM24	137839614	0.987000	0.35691	0.998000	0.56505	0.996000	0.88848	1.155000	0.31700	2.684000	0.91462	0.650000	0.86243	GCA	TRIM24	-	NULL	ENSG00000122779		0.353	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM24	HGNC	protein_coding	OTTHUMT00000341814.1	-	0.00	23	0	C	NM_015905		138189074	+1	tier1	-	no_errors	ENST00000343526	ensembl	human	known	74_37	missense	16.67	15	3	SNP	1.000	T
TTC21B	79809	genome.wustl.edu	37	2	166737308	166737308	+	Splice_Site	SNP	G	G	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr2:166737308G>T	ENST00000243344.7	-	27	3823	c.3686C>A	c.(3685-3687)tCt>tAt	p.S1229Y	TTC21B_ENST00000536175.1_Splice_Site_p.S167Y	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1229					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TTTGCAGCAAGACTGAAGAAA	0.338																																																	0													79.0	73.0	75.0					2																	166737308		2203	4300	6503	SO:0001630	splice_region_variant	0			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.3685-1C>A	2.37:g.166737308G>T			A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S1229Y	ENST00000243344.7	37	c.3686	CCDS33315.1	2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846974	0.91277	.	.	ENSG00000123607	ENST00000536175;ENST00000243344	T;T	0.38887	1.11;1.11	5.72	5.72	0.89469	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.099681	0.64402	D	0.000001	T	0.74412	0.3713	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.68039	0.955	T	0.80547	-0.1334	10	0.87932	D	0	-22.3212	20.244	0.98389	0.0:0.0:1.0:0.0	.	1229	Q7Z4L5	TT21B_HUMAN	Y	167;1229	ENSP00000438692:S167Y;ENSP00000243344:S1229Y	ENSP00000243344:S1229Y	S	-	2	0	TTC21B	166445554	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.424000	0.97464	2.865000	0.98341	0.655000	0.94253	TCT	TTC21B	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000123607		0.338	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC21B	HGNC	protein_coding	OTTHUMT00000333770.1		0.00	18	0	G	NM_024753	Missense_Mutation	166737308	-1			no_errors	ENST00000243344	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
TTI1	9675	genome.wustl.edu	37	20	36640246	36640246	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr20:36640246T>A	ENST00000373448.2	-	3	2211	c.1973A>T	c.(1972-1974)gAg>gTg	p.E658V	TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000373447.3_Missense_Mutation_p.E658V|TTI1_ENST00000449821.1_Missense_Mutation_p.E658V	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	658					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TCCAGCCTTCTCCAGTACTGG	0.493																																																	0													81.0	79.0	80.0					20																	36640246		2203	4300	6503	SO:0001583	missense	0			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1973A>T	20.37:g.36640246T>A	ENSP00000362547:p.Glu658Val		D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.E658V	ENST00000373448.2	37	c.1973	CCDS13300.1	20	.	.	.	.	.	.	.	.	.	.	T	19.08	3.758168	0.69763	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.68903	-0.36;-0.36;-0.36	5.23	5.23	0.72850	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81531	0.4842	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83846	0.0260	10	0.66056	D	0.02	-21.3916	14.4502	0.67379	0.0:0.0:0.0:1.0	.	658	O43156	TTI1_HUMAN	V	658	ENSP00000362547:E658V;ENSP00000362546:E658V;ENSP00000407270:E658V	ENSP00000362546:E658V	E	-	2	0	TTI1	36073660	1.000000	0.71417	0.997000	0.53966	0.950000	0.60333	7.243000	0.78219	2.195000	0.70347	0.533000	0.62120	GAG	TTI1	-	superfamily_ARM-type_fold,pirsf_UCP005250	ENSG00000101407		0.493	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	HGNC	protein_coding	OTTHUMT00000079138.2	-	0.00	38	0	T	NM_014657		36640246	-1	tier1	-	no_errors	ENST00000373447	ensembl	human	known	74_37	missense	19.05	51	12	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179444679	179444679	+	Silent	SNP	A	A	C			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr2:179444679A>C	ENST00000591111.1	-	268	62636	c.62412T>G	c.(62410-62412)gcT>gcG	p.A20804A	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.A13380A|TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.A22445A|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.A13572A|TTN_ENST00000359218.5_Silent_p.A13505A|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.A19877A			Q8WZ42	TITIN_HUMAN	titin	20804	Fibronectin type-III 50. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			AAGCTTTGACAGCATCACGAG	0.418																																																	0													120.0	114.0	116.0					2																	179444679		1919	4132	6051	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62412T>G	2.37:g.179444679A>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A19877	ENST00000591111.1	37	c.59631		2																																																																																			TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3	ENSG00000155657		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	28	0	A	NM_133378		179444679	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.837	C
TTN	7273	genome.wustl.edu	37	2	179455006	179455006	+	Silent	SNP	A	A	G			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr2:179455006A>G	ENST00000591111.1	-	254	56747	c.56523T>C	c.(56521-56523)tgT>tgC	p.C18841C	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.C11417C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.C20482C|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.C11609C|TTN_ENST00000359218.5_Silent_p.C11542C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.C17914C			Q8WZ42	TITIN_HUMAN	titin	18841	Ig-like 107.				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)			TAACATCACGACAAGTAACAT	0.438																																																	0													202.0	184.0	189.0					2																	179455006		1960	4147	6107	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.56523T>C	2.37:g.179455006A>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.C17914	ENST00000591111.1	37	c.53742		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom	ENSG00000155657		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	68	0	A	NM_133378		179455006	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	20.37	86	22	SNP	0.997	G
TTN	7273	genome.wustl.edu	37	2	179578934	179578934	+	Intron	SNP	T	T	C			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr2:179578934T>C	ENST00000591111.1	-	90	25756				TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCATATTTTAAACTCAAAT	0.373																																																	0													47.0	47.0	47.0					2																	179578934		1844	4074	5918	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25532-32A>G	2.37:g.179578934T>C			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	RNA	SNP	-	NULL	ENST00000591111.1	37	NULL		2																																																																																			TTN-AS1	-	-	ENSG00000237298		0.373	TTN-019	PUTATIVE	basic	protein_coding	TTN-AS1	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	49	0	T	NM_133378		179578934	+1	tier1	-	no_errors	ENST00000431752	ensembl	human	known	74_37	rna	6.56	57	4	SNP	0.082	C
UMOD	7369	genome.wustl.edu	37	16	20360484	20360484	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr16:20360484C>T	ENST00000570689.1	-	3	285	c.139G>A	c.(139-141)Gtt>Att	p.V47I	UMOD_ENST00000396138.4_Missense_Mutation_p.V96I|UMOD_ENST00000302509.4_Missense_Mutation_p.V47I|UMOD_ENST00000396134.2_Missense_Mutation_p.V80I|UMOD_ENST00000424589.1_Missense_Mutation_p.V80I|UMOD_ENST00000396142.2_Missense_Mutation_p.V47I			P07911	UROM_HUMAN	uromodulin	47	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)	p.V47F(2)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CACGTCGTAACGGCCTCATCC	0.612																																																	2	Substitution - Missense(2)	lung(2)											55.0	48.0	51.0					16																	20360484		2203	4300	6503	SO:0001583	missense	0			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.139G>A	16.37:g.20360484C>T	ENSP00000460548:p.Val47Ile		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	pfam_ZP_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom	p.V80I	ENST00000570689.1	37	c.238	CCDS10583.1	16	.	.	.	.	.	.	.	.	.	.	c	5.160	0.215047	0.09810	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	5.37	3.15	0.36227	EGF domain, merozoite surface protein 1-like (1);Growth factor, receptor (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	1.148560	0.06524	N	0.740189	D	0.83257	0.5215	L	0.46157	1.445	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.005	T	0.66344	-0.5947	10	0.19147	T	0.46	-15.7309	3.9935	0.09548	0.2332:0.575:0.0:0.1918	.	80;47	E9PEA4;P07911	.;UROM_HUMAN	I	47;80;80;47;47;47	ENSP00000379438:V80I;ENSP00000416346:V80I;ENSP00000306279:V47I;ENSP00000379446:V47I	ENSP00000306279:V47I	V	-	1	0	UMOD	20267985	0.000000	0.05858	0.010000	0.14722	0.003000	0.03518	-0.019000	0.12546	1.398000	0.46701	0.651000	0.88453	GTT	UMOD	-	superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000169344		0.612	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	UMOD	HGNC	protein_coding	OTTHUMT00000436862.1	-	0.00	46	0	C			20360484	-1	tier1	-	no_errors	ENST00000424589	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.001	T
WDR70	55100	genome.wustl.edu	37	5	37725063	37725063	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr5:37725063C>T	ENST00000265107.4	+	16	1781	c.1625C>T	c.(1624-1626)cCc>cTc	p.P542L		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	542							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCCGTGAGCCCCGCCAACGG	0.458																																																	0													141.0	145.0	143.0					5																	37725063		2203	4300	6503	SO:0001583	missense	0			BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1625C>T	5.37:g.37725063C>T	ENSP00000265107:p.Pro542Leu		Q9H053	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P542L	ENST00000265107.4	37	c.1625	CCDS34147.1	5	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730501	0.69074	.	.	ENSG00000082068	ENST00000265107	T	0.68025	-0.3	5.95	5.95	0.96441	.	0.056189	0.64402	D	0.000001	T	0.64907	0.2641	M	0.62723	1.935	0.80722	D	1	P	0.34462	0.454	B	0.27887	0.084	T	0.62723	-0.6794	10	0.33940	T	0.23	-44.6129	20.4024	0.99000	0.0:1.0:0.0:0.0	.	542	Q9NW82	WDR70_HUMAN	L	542	ENSP00000265107:P542L	ENSP00000265107:P542L	P	+	2	0	WDR70	37760820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.214000	0.77958	2.827000	0.97445	0.650000	0.86243	CCC	WDR70	-	NULL	ENSG00000082068		0.458	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR70	HGNC	protein_coding	OTTHUMT00000368294.1	-	0.00	37	0	C	NM_018034		37725063	+1	tier1	-	no_errors	ENST00000265107	ensembl	human	known	74_37	missense	14.29	54	9	SNP	1.000	T
WNT3A	89780	genome.wustl.edu	37	1	228210523	228210523	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:228210523A>T	ENST00000284523.1	+	2	305	c.227A>T	c.(226-228)gAg>gTg	p.E76V	WNT3A_ENST00000366753.2_Missense_Mutation_p.E76V	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	76					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|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)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GGCATCCAGGAGTGCCAGCAC	0.657																																																	0													54.0	53.0	53.0					1																	228210523		2203	4300	6503	SO:0001583	missense	0			AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.227A>T	1.37:g.228210523A>T	ENSP00000284523:p.Glu76Val		Q3SY79|Q3SY80|Q969P2	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3	p.E76V	ENST00000284523.1	37	c.227	CCDS1564.1	1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.653085	0.88056	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.80824	-1.42;-1.42	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.90528	0.7032	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.92318	0.5863	10	0.87932	D	0	.	13.5625	0.61797	1.0:0.0:0.0:0.0	.	76;76	P56704;Q3SY79	WNT3A_HUMAN;.	V	76	ENSP00000284523:E76V;ENSP00000355715:E76V	ENSP00000284523:E76V	E	+	2	0	WNT3A	226277146	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.992000	0.93519	1.873000	0.54277	0.478000	0.44815	GAG	WNT3A	-	pfam_Wnt,smart_Wnt	ENSG00000154342		0.657	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT3A	HGNC	protein_coding	OTTHUMT00000091648.1	-	0.00	31	0	A	NM_033131		228210523	+1	tier1	-	no_errors	ENST00000366753	ensembl	human	known	74_37	missense	13.11	53	8	SNP	1.000	T
ZBTB22	9278	genome.wustl.edu	37	6	33284415	33284415	+	Silent	SNP	G	G	A			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr6:33284415G>A	ENST00000431845.2	-	2	430	c.279C>T	c.(277-279)tcC>tcT	p.S93S	ZBTB22_ENST00000418724.1_Silent_p.S93S|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|DAXX_ENST00000477162.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	93	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GCAGCGAGATGGAGGTCATGC	0.597																																																	0													103.0	104.0	104.0					6																	33284415		2203	4300	6503	SO:0001819	synonymous_variant	0			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.279C>T	6.37:g.33284415G>A			B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S93	ENST00000431845.2	37	c.279	CCDS4775.1	6																																																																																			ZBTB22	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000236104		0.597	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB22	HGNC	protein_coding	OTTHUMT00000076183.2	-	0.00	50	0	G			33284415	-1	tier1	-	no_errors	ENST00000418724	ensembl	human	known	74_37	silent	20.31	51	13	SNP	0.995	A
ZMYND19	116225	genome.wustl.edu	37	9	140482271	140482271	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr9:140482271C>T	ENST00000298585.2	-	3	342	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	39						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CACTTCCATTCGGGCCTGAGA	0.463																																																	0													153.0	169.0	164.0					9																	140482271		2203	4300	6503	SO:0001583	missense	0			BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"""Zinc fingers, MYND-type"""	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.116G>A	9.37:g.140482271C>T	ENSP00000298585:p.Arg39Gln		Q5T366	Missense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.R39Q	ENST00000298585.2	37	c.116	CCDS7048.1	9	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449235	0.84101	.	.	ENSG00000165724	ENST00000298585	.	.	.	4.7	4.7	0.59300	.	0.057220	0.64402	D	0.000001	T	0.40694	0.1127	L	0.42245	1.32	0.58432	D	0.999999	P	0.43352	0.804	B	0.28553	0.091	T	0.48854	-0.8998	9	0.48119	T	0.1	-20.9495	16.2215	0.82262	0.0:1.0:0.0:0.0	.	39	Q96E35	ZMY19_HUMAN	Q	39	.	ENSP00000298585:R39Q	R	-	2	0	ZMYND19	139602092	1.000000	0.71417	0.994000	0.49952	0.907000	0.53573	4.717000	0.61923	2.138000	0.66242	0.655000	0.94253	CGA	ZMYND19	-	NULL	ENSG00000165724		0.463	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND19	HGNC	protein_coding	OTTHUMT00000055356.1	-	0.00	71	0	C	NM_138462		140482271	-1	tier1	-	no_errors	ENST00000298585	ensembl	human	known	74_37	missense	16.00	42	8	SNP	1.000	T
ZNF487	642819	genome.wustl.edu	37	10	43977916	43977916	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr10:43977916C>G	ENST00000431662.1	+	5	831	c.831C>G	c.(829-831)atC>atG	p.I277M	ZNF487_ENST00000437590.2_3'UTR			B1APH4	ZN487_HUMAN	zinc finger protein 487	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TGCAGTACATCAAAGAACACA	0.403																																																	0																																										SO:0001583	missense	0					10q11.21	2013-06-03	2013-03-06	2013-03-06	ENSG00000243660	ENSG00000243660			23488	other	unknown			"""KRAB domain only 1"", ""zinc finger protein 487, pseudogene"""	KRBO1, ZNF487P			Standard	NR_026693		Approved			B1APH4	OTTHUMG00000185507	ENST00000431662.1:c.831C>G	10.37:g.43977916C>G	ENSP00000388421:p.Ile277Met		B1APH5|B7Z7S5	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I277M	ENST00000431662.1	37	c.831		10	.	.	.	.	.	.	.	.	.	.	C	1.702	-0.501415	0.04261	.	.	ENSG00000243660	ENST00000431662	T	0.04156	3.69	1.63	0.696	0.18075	.	.	.	.	.	T	0.09202	0.0227	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.14476	-1.0471	6	0.72032	D	0.01	.	5.9064	0.19004	0.0:0.8145:0.0:0.1855	.	.	.	.	M	277	ENSP00000388421:I277M	ENSP00000388421:I277M	I	+	3	3	ZNF487P	43297922	0.000000	0.05858	0.022000	0.16811	0.289000	0.27227	0.081000	0.14823	0.267000	0.21916	0.454000	0.30748	ATC	ZNF487	-	NULL	ENSG00000243660		0.403	ZNF487-201	KNOWN	basic|appris_principal	protein_coding	ZNF487	HGNC	protein_coding			0.00	19	0	C	XM_926224		43977916	+1			no_errors	ENST00000431662	ensembl	human	known	74_37	missense	11.76	15	2	SNP	0.982	G
ZNF860	344787	genome.wustl.edu	37	3	32030982	32030982	+	Silent	SNP	C	C	T			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr3:32030982C>T	ENST00000360311.4	+	2	960	c.411C>T	c.(409-411)agC>agT	p.S137S		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	137					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)|lung(4)|ovary(1)	8						TGACTGGTAGCACCGACAGAT	0.383																																																	0													62.0	47.0	51.0					3																	32030982		692	1591	2283	SO:0001819	synonymous_variant	0			AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.411C>T	3.37:g.32030982C>T			B4DFA4	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.S137	ENST00000360311.4	37	c.411	CCDS46784.1	3																																																																																			ZNF860	-	NULL	ENSG00000197385		0.383	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF860	HGNC	protein_coding	OTTHUMT00000341957.1	-	0.00	60	0	C			32030982	+1	tier1	-	no_errors	ENST00000360311	ensembl	human	known	74_37	silent	7.81	59	5	SNP	0.001	T
ZNF876P	642280	genome.wustl.edu	37	4	248026	248026	+	RNA	SNP	A	A	G			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr4:248026A>G	ENST00000356347.3	+	0	850					NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GAATGAACATAAGAATATGCA	0.373																																																	0																																												0			BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.248026A>G				RNA	SNP	-	NULL	ENST00000356347.3	37	NULL		4																																																																																			ZNF876P	-	-	ENSG00000198155		0.373	ZNF876P-001	KNOWN	basic	processed_transcript	ZNF876P	HGNC	pseudogene	OTTHUMT00000357870.2	-	0.00	32	0	A	NR_027481		248026	+1	tier1	-	no_errors	ENST00000356347	ensembl	human	known	74_37	rna	13.33	26	4	SNP	0.351	G
