#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACACB	32	genome.wustl.edu	37	12	109678904	109678904	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr12:109678904A>T	ENST00000338432.7	+	36	4959	c.4840A>T	c.(4840-4842)Atg>Ttg	p.M1614L	ACACB_ENST00000543201.1_Missense_Mutation_p.M280L|ACACB_ENST00000377854.5_Missense_Mutation_p.M1544L|ACACB_ENST00000377848.3_Missense_Mutation_p.M1614L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1614					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)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.M280L(1)|p.M1614L(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CGTGCGCTACATGGTTATGCG	0.537																																						dbGAP											2	Substitution - Missense(2)	breast(2)											107.0	91.0	97.0					12																	109678904		2203	4300	6503	-	-	-	SO:0001583	missense	0			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.4840A>T	12.37:g.109678904A>T	ENSP00000341044:p.Met1614Leu		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	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,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.M1614L	ENST00000338432.7	37	c.4840	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	A	17.87	3.494624	0.64186	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	4.99	4.99	0.66335	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.49881	0.1583	L	0.59912	1.85	0.80722	D	1	P	0.46327	0.876	P	0.49252	0.604	T	0.52638	-0.8549	10	0.52906	T	0.07	.	14.9982	0.71449	1.0:0.0:0.0:0.0	.	1614	O00763	ACACB_HUMAN	L	1614;1614;1544;845;280	ENSP00000341044:M1614L;ENSP00000367079:M1614L;ENSP00000367085:M1544L;ENSP00000444075:M280L	ENSP00000341044:M1614L	M	+	1	0	ACACB	108163287	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.424000	0.80242	2.015000	0.59207	0.459000	0.35465	ATG	ACACB	-	pfam_AcCoA_COase_cen	ENSG00000076555		0.537	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	67	0.00	0	A	NM_001093		109678904	109678904	+1	no_errors	ENST00000338432	ensembl	human	known	69_37n	missense	79	19.19	19	SNP	1.000	T
AGGF1	55109	genome.wustl.edu	37	5	76349934	76349934	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr5:76349934G>A	ENST00000312916.7	+	10	1994	c.1612G>A	c.(1612-1614)Gat>Aat	p.D538N		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	538					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)	p.D538N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		CCTTCGCCTTGATAAGAAAGA	0.393																																						dbGAP											1	Substitution - Missense(1)	breast(1)											115.0	114.0	114.0					5																	76349934		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.1612G>A	5.37:g.76349934G>A	ENSP00000316109:p.Asp538Asn		O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	pfam_FHA_dom,pfam_G_patch_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_G_patch_dom,pfscan_FHA_dom,pfscan_G_patch_dom	p.D538N	ENST00000312916.7	37	c.1612	CCDS4035.1	5	.	.	.	.	.	.	.	.	.	.	G	14.08	2.427913	0.43122	.	.	ENSG00000164252	ENST00000312916	T	0.38560	1.13	5.02	5.02	0.67125	.	0.507252	0.23746	N	0.044967	T	0.42517	0.1206	N	0.12182	0.205	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.37979	-0.9682	10	0.41790	T	0.15	-1.3742	11.8014	0.52128	0.0808:0.0:0.9192:0.0	.	538	Q8N302	AGGF1_HUMAN	N	538	ENSP00000316109:D538N	ENSP00000316109:D538N	D	+	1	0	AGGF1	76385690	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.063000	0.57499	2.324000	0.78689	0.462000	0.41574	GAT	AGGF1	-	NULL	ENSG00000164252		0.393	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGGF1	HGNC	protein_coding	OTTHUMT00000219971.2	104	0.00	0	G	NM_018046		76349934	76349934	+1	no_errors	ENST00000312916	ensembl	human	known	69_37n	missense	119	11.85	16	SNP	1.000	A
AIM1	202	genome.wustl.edu	37	6	106967048	106967048	+	Silent	SNP	T	T	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr6:106967048T>A	ENST00000369066.3	+	2	1228	c.741T>A	c.(739-741)ccT>ccA	p.P247P		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.P247P(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTAAAACCCCTAAGAATCTTG	0.403																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											53.0	54.0	54.0					6																	106967048		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.741T>A	6.37:g.106967048T>A			Q6P2P0|Q9BTM3	Silent	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.P247	ENST00000369066.3	37	c.741	CCDS34506.1	6																																																																																			AIM1	-	NULL	ENSG00000112297		0.403	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1	57	0.00	0	T			106967048	106967048	+1	no_errors	ENST00000369066	ensembl	human	known	69_37n	silent	48	23.81	15	SNP	0.956	A
ANKRD17	26057	genome.wustl.edu	37	4	74019654	74019654	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr4:74019654T>C	ENST00000358602.4	-	6	1293	c.1177A>G	c.(1177-1179)Att>Gtt	p.I393V	ANKRD17_ENST00000509867.2_Missense_Mutation_p.I280V|ANKRD17_ENST00000514252.1_5'Flank|ANKRD17_ENST00000330838.6_Missense_Mutation_p.I393V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	393					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.I393V(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCGTATTAATGCCAGCCCCA	0.378																																						dbGAP											1	Substitution - Missense(1)	breast(1)											120.0	114.0	116.0					4																	74019654		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.1177A>G	4.37:g.74019654T>C	ENSP00000351416:p.Ile393Val		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.I393V	ENST00000358602.4	37	c.1177	CCDS34004.1	4	.	.	.	.	.	.	.	.	.	.	T	18.49	3.635280	0.67130	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	T;T;T	0.66995	-0.24;-0.24;-0.24	4.95	4.95	0.65309	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000010	T	0.64746	0.2626	N	0.10618	0.005	0.36159	D	0.848015	P;P;P;P	0.46020	0.843;0.726;0.871;0.871	P;P;D;P	0.68483	0.904;0.646;0.958;0.894	T	0.69087	-0.5238	10	0.22109	T	0.4	.	14.6233	0.68602	0.0:0.0:0.0:1.0	.	393;393;393;280	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	V	393;393;393;280;393	ENSP00000351416:I393V;ENSP00000332265:I393V;ENSP00000427151:I280V	ENSP00000332265:I393V	I	-	1	0	ANKRD17	74238518	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	1.861000	0.53984	0.455000	0.32223	ATT	ANKRD17	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000132466		0.378	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	HGNC	protein_coding	OTTHUMT00000362475.1	86	0.00	0	T	NM_032217		74019654	74019654	-1	no_errors	ENST00000358602	ensembl	human	known	69_37n	missense	27	47.06	24	SNP	1.000	C
ANKS1B	56899	genome.wustl.edu	37	12	99447042	99447042	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr12:99447042C>T	ENST00000547776.2	-	17	2670	c.2671G>A	c.(2671-2673)Gag>Aag	p.E891K	ANKS1B_ENST00000549025.2_Missense_Mutation_p.E60K|ANKS1B_ENST00000549493.2_Missense_Mutation_p.E117K|ANKS1B_ENST00000546568.1_Missense_Mutation_p.E117K|ANKS1B_ENST00000550693.2_Missense_Mutation_p.E117K|ANKS1B_ENST00000549558.2_Missense_Mutation_p.E117K|ANKS1B_ENST00000547446.1_Missense_Mutation_p.E86K|ANKS1B_ENST00000547010.1_Missense_Mutation_p.E467K|ANKS1B_ENST00000332712.7_Missense_Mutation_p.E117K|ANKS1B_ENST00000329257.7_Missense_Mutation_p.E891K|ANKS1B_ENST00000546960.1_Missense_Mutation_p.E117K	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	891	SAM 2. {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)	p.E117K(1)|p.E891K(1)		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)		TCCAGCCACTCAGCTACAGAG	0.423																																						dbGAP											2	Substitution - Missense(2)	breast(2)											50.0	48.0	48.0					12																	99447042		1911	4152	6063	-	-	-	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.2671G>A	12.37:g.99447042C>T	ENSP00000449629:p.Glu891Lys		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_PTyr_interaction_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt	p.E891K	ENST00000547776.2	37	c.2671	CCDS55872.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.133851	0.94517	.	.	ENSG00000185046	ENST00000549558;ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000550693;ENST00000549025;ENST00000549493;ENST00000547446;ENST00000546568;ENST00000332712;ENST00000407362;ENST00000546960;ENST00000552245	T;T;T;T;T;T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45	6.07	6.07	0.98685	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.69780	0.3149	M	0.75264	2.295	0.54753	D	0.999985	P;P;P;P;B;P;D;P;P;P;P	0.58620	0.856;0.539;0.793;0.665;0.29;0.728;0.983;0.73;0.913;0.938;0.704	P;B;P;P;B;B;P;P;P;P;B	0.56865	0.598;0.303;0.449;0.57;0.199;0.44;0.717;0.492;0.808;0.78;0.342	T	0.70447	-0.4869	10	0.59425	D	0.04	-13.1086	18.8244	0.92111	0.0:1.0:0.0:0.0	.	86;117;117;117;105;117;117;60;467;891;117	F8VPM3;Q7Z6G8-4;Q7Z6G8-5;F8VZ47;F8VQW6;Q7Z6G8-2;Q7Z6G8-3;F8VZR9;Q7Z6G8-6;Q7Z6G8;Q7Z6G8-7	.;.;.;.;.;.;.;.;.;ANS1B_HUMAN;.	K	117;891;467;891;466;117;60;117;86;117;117;53;117;117	ENSP00000448993:E117K;ENSP00000449629:E891K;ENSP00000448512:E467K;ENSP00000331381:E891K;ENSP00000447999:E117K;ENSP00000447312:E60K;ENSP00000448203:E117K;ENSP00000450015:E86K;ENSP00000448205:E117K;ENSP00000332683:E117K;ENSP00000447839:E117K	ENSP00000331381:E891K	E	-	1	0	ANKS1B	97971173	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.085000	0.76875	2.890000	0.99128	0.650000	0.86243	GAG	ANKS1B	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000185046		0.423	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	HGNC	protein_coding	OTTHUMT00000408421.3	286	0.00	0	C	NM_020140		99447042	99447042	-1	no_errors	ENST00000329257	ensembl	human	known	69_37n	missense	91	40.91	63	SNP	1.000	T
ARSI	340075	genome.wustl.edu	37	5	149677569	149677570	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr5:149677569_149677570insC	ENST00000328668.7	-	2	1496_1497	c.917_918insG	c.(916-918)ggcfs	p.G306fs		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	306					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCAGTTGCTGCCCCCCGAGAA	0.589																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.918dupG	5.37:g.149677575_149677575dupC	ENSP00000333395:p.Gly306fs		A1L3B0|B3KV22|B7XD03	Frame_Shift_Ins	INS	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.S307fs	ENST00000328668.7	37	c.918_917	CCDS34275.1	5																																																																																			ARSI	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000183876		0.589	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSI	HGNC	protein_coding	OTTHUMT00000373681.1	17	0.00	0	-	NM_001012301		149677569	149677570	-1	no_errors	ENST00000328668	ensembl	human	known	69_37n	frame_shift_ins	14	17.65	3	INS	0.998:1.000	C
RTFDC1	51507	genome.wustl.edu	37	20	55043817	55043817	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr20:55043817G>C	ENST00000023939.4	+	1	171	c.64G>C	c.(64-66)Gag>Cag	p.E22Q	RTFDC1_ENST00000357348.5_Missense_Mutation_p.E22Q|RTFDC1_ENST00000395881.3_Missense_Mutation_p.E22Q|RTFDC1_ENST00000484084.1_3'UTR|RTFDC1_ENST00000435342.2_Missense_Mutation_p.E22Q	NM_001283035.1|NM_001283036.1|NM_016407.3	NP_001269964.1|NP_001269965.1|NP_057491.2	Q9BY42	RTF2_HUMAN	replication termination factor 2 domain containing 1	22								p.E22Q(1)									GAAGAAGGTTGAGAAGGTCAG	0.602																																						dbGAP											1	Substitution - Missense(1)	breast(1)											45.0	44.0	44.0					20																	55043817		2202	4294	6496	-	-	-	SO:0001583	missense	0			AF161513	CCDS13453.1, CCDS63316.1, CCDS63317.1	20q13	2012-10-29	2012-10-29	2012-10-29	ENSG00000022277	ENSG00000022277			15890	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 43"""	C20orf43			Standard	NM_001283035		Approved	HSPC164, CDAO5	uc002xxt.2	Q9BY42	OTTHUMG00000032801	ENST00000023939.4:c.64G>C	20.37:g.55043817G>C	ENSP00000023939:p.Glu22Gln		E1P5Z9|Q9BYL7|Q9HCV9|Q9NX29|Q9NZZ8|Q9P002|Q9UHW3	Missense_Mutation	SNP	NULL	p.E22Q	ENST00000023939.4	37	c.64	CCDS13453.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.499470	0.96355	.	.	ENSG00000022277	ENST00000023939;ENST00000395881;ENST00000357348;ENST00000449062;ENST00000435342	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	5.68	5.68	0.88126	.	0.062098	0.64402	D	0.000007	T	0.57403	0.2051	L	0.55990	1.75	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.77004	0.978;0.967;0.978;0.989	T	0.49854	-0.8895	10	0.37606	T	0.19	-39.9145	19.7782	0.96405	0.0:0.0:1.0:0.0	.	22;22;22;22	A8MSH5;A2A2L6;B2RB99;Q9BY42	.;.;.;CT043_HUMAN	Q	22	ENSP00000023939:E22Q;ENSP00000379220:E22Q;ENSP00000349906:E22Q;ENSP00000400322:E22Q;ENSP00000407185:E22Q	ENSP00000023939:E22Q	E	+	1	0	C20orf43	54477224	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.714000	0.91412	2.676000	0.91093	0.563000	0.77884	GAG	C20orf43	-	NULL	ENSG00000022277		0.602	RTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf43	HGNC	protein_coding	OTTHUMT00000079817.2	151	0.00	0	G	NM_016407		55043817	55043817	+1	no_errors	ENST00000357348	ensembl	human	known	69_37n	missense	117	11.28	15	SNP	1.000	C
CCDC168	643677	genome.wustl.edu	37	13	103385449	103385449	+	Silent	SNP	C	C	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr13:103385449C>T	ENST00000322527.2	-	1	3710	c.3711G>A	c.(3709-3711)tcG>tcA	p.S1237S		NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168	1237								p.S1237S(1)									CATCTGTTTCCGATGGTGTCT	0.473																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											365.0	276.0	303.0					13																	103385449		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS73596.1	13q33.1	2014-06-17	2011-08-09	2011-08-09	ENSG00000175820	ENSG00000175820			26851	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 40"""	C13orf40			Standard	NM_001146197		Approved	FLJ40176	uc001vpm.3	Q8NDH2	OTTHUMG00000187287	ENST00000322527.2:c.3711G>A	13.37:g.103385449C>T			Q8N800	Silent	SNP	NULL	p.S1237	ENST00000322527.2	37	c.3711		13																																																																																			CCDC168	-	NULL	ENSG00000175820		0.473	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	CCDC168	HGNC	protein_coding		1201	0.00	0	C	NM_001146197		103385449	103385449	-1	no_errors	ENST00000322527	ensembl	human	known	69_37n	silent	421	29.72	178	SNP	0.000	T
CCP110	9738	genome.wustl.edu	37	16	19547333	19547333	+	Silent	SNP	C	C	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr16:19547333C>T	ENST00000381396.5	+	4	589	c.342C>T	c.(340-342)gtC>gtT	p.V114V	CCP110_ENST00000396208.2_Silent_p.V114V|CCP110_ENST00000396212.2_Silent_p.V114V	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	114	CEP97 binding.				cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)		p.V114V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						ATTCAGAAGTCAGAAACTTGA	0.368																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											83.0	83.0	83.0					16																	19547333		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.342C>T	16.37:g.19547333C>T			B7WP23|O43335|Q68DV9|Q8NE13	Silent	SNP	NULL	p.V114	ENST00000381396.5	37	c.342	CCDS55992.1	16																																																																																			CCP110	-	NULL	ENSG00000103540		0.368	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCP110	HGNC	protein_coding	OTTHUMT00000254284.2	127	0.00	0	C	NM_014711		19547333	19547333	+1	no_errors	ENST00000381396	ensembl	human	known	69_37n	silent	115	11.54	15	SNP	0.998	T
CDH1	999	genome.wustl.edu	37	16	68849648	68849648	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr16:68849648delG	ENST00000261769.5	+	10	1742	c.1551delG	c.(1549-1551)atgfs	p.M517fs	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Frame_Shift_Del_p.M456fs|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	517	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.F516fs*2(1)|p.E518fs*4(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		ACACATTTATGGAACAGAAAA	0.408			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	3	Deletion - Frameshift(2)|Unknown(1)	breast(3)											95.0	88.0	90.0					16																	68849648		2198	4300	6498	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1551delG	16.37:g.68849648delG	ENSP00000261769:p.Met517fs		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E518fs	ENST00000261769.5	37	c.1551	CCDS10869.1	16																																																																																			CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000039068		0.408	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	227	0.00	0	G	NM_004360		68849648	68849648	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_del	96	33.56	49	DEL	0.205	-
CDH19	28513	genome.wustl.edu	37	18	64211462	64211462	+	Splice_Site	SNP	C	C	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr18:64211462C>T	ENST00000540086.1	-	7	1207		c.e7-1		CDH19_ENST00000262150.2_Splice_Site	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2						branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				AATCCACTTTCTGCAAAGAAA	0.378																																						dbGAP											1	Unknown(1)	breast(1)											96.0	89.0	91.0					18																	64211462		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.961-1G>A	18.37:g.64211462C>T			O15098	Splice_Site	SNP	-	e6-1	ENST00000540086.1	37	c.961-1	CCDS59325.1	18	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993169	0.35131	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.808	0.92047	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDH19	62362442	1.000000	0.71417	0.998000	0.56505	0.067000	0.16453	6.225000	0.72271	2.822000	0.97130	0.650000	0.86243	.	CDH19	-	-	ENSG00000071991		0.378	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CDH19	HGNC	protein_coding	OTTHUMT00000442285.1	201	0.00	0	C	NM_021153	Intron	64211462	64211462	-1	no_errors	ENST00000262150	ensembl	human	known	69_37n	splice_site	126	25.88	44	SNP	1.000	T
CELA3B	23436	genome.wustl.edu	37	1	22310738	22310738	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr1:22310738G>A	ENST00000337107.6	+	6	575	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K		NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	186	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.E186K(1)		breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GGTGGACTATGAACACTGCTC	0.612																																						dbGAP											1	Substitution - Missense(1)	breast(1)											91.0	88.0	89.0					1																	22310738		2203	4300	6503	-	-	-	SO:0001583	missense	0			M18692	CCDS219.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000219073	ENSG00000219073	3.4.21.70		15945	protein-coding gene	gene with protein product	"""proteinase E"", ""elastase 1"", ""cholesterol-binding pancreatic protease"", ""pancreatic endopeptidase E"""		"""elastase 3B, pancreatic"""	ELA3B		2826474, 2460440	Standard	NM_007352		Approved	CBPP	uc001bfk.3	P08861	OTTHUMG00000002758	ENST00000337107.6:c.556G>A	1.37:g.22310738G>A	ENSP00000338369:p.Glu186Lys		B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E186K	ENST00000337107.6	37	c.556	CCDS219.1	1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555701	0.27827	.	.	ENSG00000219073	ENST00000337107;ENST00000400277	D;D	0.89343	-2.5;-2.5	4.53	3.61	0.41365	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.532885	0.19516	N	0.112390	T	0.78861	0.4350	N	0.16862	0.45	0.23681	N	0.997126	B	0.02656	0.0	B	0.08055	0.003	T	0.64162	-0.6472	10	0.26408	T	0.33	-1.0553	10.717	0.46019	0.0965:0.0:0.9035:0.0	.	186	P08861	CEL3B_HUMAN	K	186;89	ENSP00000338369:E186K;ENSP00000383135:E89K	ENSP00000338369:E186K	E	+	1	0	CELA3B	22183325	0.000000	0.05858	0.964000	0.40570	0.462000	0.32619	0.091000	0.15046	1.027000	0.39758	0.650000	0.86243	GAA	CELA3B	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000219073		0.612	CELA3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA3B	HGNC	protein_coding	OTTHUMT00000007797.1	135	0.00	0	G	NM_007352		22310738	22310738	+1	no_errors	ENST00000337107	ensembl	human	known	69_37n	missense	84	16.83	17	SNP	0.642	A
CHI3L2	1117	genome.wustl.edu	37	1	111777558	111777558	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr1:111777558C>T	ENST00000445067.2	+	7	1130	c.359C>T	c.(358-360)tCa>tTa	p.S120L	CHI3L2_ENST00000369748.4_Missense_Mutation_p.S120L|CHI3L2_ENST00000369744.2_Missense_Mutation_p.S110L|CHI3L2_ENST00000524472.1_Missense_Mutation_p.S41L|CHI3L2_ENST00000466741.1_Missense_Mutation_p.S41L			Q15782	CH3L2_HUMAN	chitinase 3-like 2	120					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)	extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.S120L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		TCTTCTACATCACGCTTGGAA	0.393																																						dbGAP											1	Substitution - Missense(1)	breast(1)											129.0	115.0	120.0					1																	111777558		2203	4300	6503	-	-	-	SO:0001583	missense	0			U49835	CCDS30802.1, CCDS30803.1, CCDS41367.1	1p13.3	2008-02-05			ENSG00000064886	ENSG00000064886			1933	protein-coding gene	gene with protein product		601526				8702629	Standard	NM_001025197		Approved	YKL-39, YKL39	uc001eam.3	Q15782	OTTHUMG00000012174	ENST00000445067.2:c.359C>T	1.37:g.111777558C>T	ENSP00000437082:p.Ser120Leu		A6NNY3|B4DPR7|Q15749|Q15783|Q5VUV7|Q96F97	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.S120L	ENST00000445067.2	37	c.359	CCDS30802.1	1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.411546	0.25465	.	.	ENSG00000064886	ENST00000445067;ENST00000528451;ENST00000486561;ENST00000369744;ENST00000369748;ENST00000474304;ENST00000466741;ENST00000477185;ENST00000467038;ENST00000497587;ENST00000524472	T;T;T;T;T;T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32;3.32;3.32;3.32;3.32;3.32	3.71	1.69	0.24217	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.252609	0.20853	N	0.084488	T	0.05318	0.0141	L	0.46670	1.46	0.09310	N	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.67900	0.938;0.954;0.938	T	0.23904	-1.0175	10	0.87932	D	0	-0.1355	2.3396	0.04256	0.1941:0.5042:0.1894:0.1123	.	41;110;120	B4DPR7;A6NNY3;Q15782	.;.;CH3L2_HUMAN	L	120;120;120;110;120;120;41;41;22;41;41	ENSP00000437082:S120L;ENSP00000436077:S120L;ENSP00000431968:S120L;ENSP00000358759:S110L;ENSP00000358763:S120L;ENSP00000437086:S41L;ENSP00000436272:S41L;ENSP00000431978:S22L;ENSP00000436006:S41L;ENSP00000432049:S41L	ENSP00000358759:S110L	S	+	2	0	CHI3L2	111579081	0.025000	0.19082	0.001000	0.08648	0.186000	0.23388	0.346000	0.19997	0.188000	0.20168	0.462000	0.41574	TCA	CHI3L2	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	ENSG00000064886		0.393	CHI3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHI3L2	HGNC	protein_coding	OTTHUMT00000033669.4	126	0.00	0	C	NM_004000		111777558	111777558	+1	no_errors	ENST00000369748	ensembl	human	known	69_37n	missense	80	20.00	20	SNP	0.000	T
CNST	163882	genome.wustl.edu	37	1	246823579	246823579	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr1:246823579C>T	ENST00000366513.4	+	10	2184	c.1915C>T	c.(1915-1917)Cac>Tac	p.H639Y		NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	639					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)	p.H639Y(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						CCAAATGCAACACAAACCATC	0.428																																						dbGAP											1	Substitution - Missense(1)	breast(1)											180.0	164.0	169.0					1																	246823579		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.1915C>T	1.37:g.246823579C>T	ENSP00000355470:p.His639Tyr		Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	NULL	p.H639Y	ENST00000366513.4	37	c.1915	CCDS1628.1	1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854525	0.51376	.	.	ENSG00000162852	ENST00000366513	T	0.17054	2.3	5.53	5.53	0.82687	.	0.255793	0.40064	N	0.001197	T	0.12390	0.0301	N	0.14661	0.345	0.80722	D	1	B	0.23735	0.09	B	0.25140	0.058	T	0.10636	-1.0621	10	0.40728	T	0.16	-23.066	15.4447	0.75220	0.1394:0.8606:0.0:0.0	.	639	Q6PJW8	CNST_HUMAN	Y	639	ENSP00000355470:H639Y	ENSP00000355470:H639Y	H	+	1	0	CNST	244890202	0.992000	0.36948	0.953000	0.39169	0.946000	0.59487	3.703000	0.54808	2.770000	0.95276	0.655000	0.94253	CAC	CNST	-	NULL	ENSG00000162852		0.428	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNST	HGNC	protein_coding	OTTHUMT00000096780.1	134	0.00	0	C	NM_152609		246823579	246823579	+1	no_errors	ENST00000366513	ensembl	human	known	69_37n	missense	140	14.63	24	SNP	0.984	T
CORO1C	23603	genome.wustl.edu	37	12	109042522	109042522	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr12:109042522G>C	ENST00000261401.3	-	10	1336	c.1164C>G	c.(1162-1164)atC>atG	p.I388M	CORO1C_ENST00000549772.1_Missense_Mutation_p.I394M|CORO1C_ENST00000541050.1_Missense_Mutation_p.I388M|CORO1C_ENST00000549384.1_5'UTR|CORO1C_ENST00000421578.2_Missense_Mutation_p.I283M|CORO1C_ENST00000420959.2_Missense_Mutation_p.I441M	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	388					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.I388M(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GCTTCAAGGAGATGAGGATTG	0.527																																						dbGAP											1	Substitution - Missense(1)	breast(1)											220.0	163.0	183.0					12																	109042522		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"""Coronins"", ""WD repeat domain containing"""	2254	protein-coding gene	gene with protein product		605269	"""coronin, actin-binding protein, 1C"""			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.1164C>G	12.37:g.109042522G>C	ENSP00000261401:p.Ile388Met		A7MAP0|A7MAP1|B3KU12|Q9NSK5	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I441M	ENST00000261401.3	37	c.1323	CCDS9120.1	12	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749599	0.30955	.	.	ENSG00000110880	ENST00000261401;ENST00000541050;ENST00000546705;ENST00000421578;ENST00000549772;ENST00000420959	T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53	5.46	2.58	0.30949	Domain of unknown function DUF1900 (1);	0.114905	0.64402	D	0.000017	T	0.39226	0.1070	L	0.57536	1.79	0.42717	D	0.993666	P;B;B	0.49253	0.921;0.059;0.118	P;B;B	0.61328	0.887;0.116;0.154	T	0.28808	-1.0032	10	0.18276	T	0.48	-15.013	5.2824	0.15682	0.1636:0.0:0.5433:0.2931	.	351;441;388	B4DMH3;A7MAP1;Q9ULV4	.;.;COR1C_HUMAN	M	388;388;79;283;394;441	ENSP00000261401:I388M;ENSP00000438341:I388M;ENSP00000447337:I79M;ENSP00000415554:I283M;ENSP00000447534:I394M;ENSP00000394496:I441M	ENSP00000261401:I388M	I	-	3	3	CORO1C	107566651	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	0.909000	0.28558	1.264000	0.44198	0.591000	0.81541	ATC	CORO1C	-	pfam_DUF1900	ENSG00000110880		0.527	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO1C	HGNC	protein_coding	OTTHUMT00000403802.1	131	0.76	1	G	NM_014325		109042522	109042522	-1	no_errors	ENST00000420959	ensembl	human	known	69_37n	missense	113	23.13	34	SNP	0.998	C
CPN1	1369	genome.wustl.edu	37	10	101808562	101808562	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr10:101808562C>T	ENST00000370418.3	-	8	1434	c.1183G>A	c.(1183-1185)Gac>Aac	p.D395N		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	395					response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.D395N(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GTCTCTGGGTCATACCCAGGT	0.493																																						dbGAP											1	Substitution - Missense(1)	breast(1)											169.0	134.0	146.0					10																	101808562		2203	4300	6503	-	-	-	SO:0001583	missense	0			X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.1183G>A	10.37:g.101808562C>T	ENSP00000359446:p.Asp395Asn		B1AP59	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.D395N	ENST00000370418.3	37	c.1183	CCDS7486.1	10	.	.	.	.	.	.	.	.	.	.	C	3.645	-0.072775	0.07228	.	.	ENSG00000120054	ENST00000370418;ENST00000441382	T;T	0.44482	0.92;0.92	5.5	2.3	0.28687	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	1.338210	0.04420	N	0.367483	T	0.25644	0.0624	N	0.16233	0.39	0.09310	N	1	B	0.18461	0.028	B	0.15052	0.012	T	0.19289	-1.0310	10	0.17832	T	0.49	-25.0334	4.2136	0.10522	0.1407:0.3832:0.3861:0.09	.	395	P15169	CBPN_HUMAN	N	395;192	ENSP00000359446:D395N;ENSP00000410895:D192N	ENSP00000359446:D395N	D	-	1	0	CPN1	101798552	0.000000	0.05858	0.025000	0.17156	0.127000	0.20565	0.033000	0.13754	0.616000	0.30141	0.644000	0.83932	GAC	CPN1	-	superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14	ENSG00000120054		0.493	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPN1	HGNC	protein_coding	OTTHUMT00000049828.1	168	0.59	1	C	NM_001308		101808562	101808562	-1	no_errors	ENST00000370418	ensembl	human	known	69_37n	missense	174	22.22	50	SNP	0.002	T
CSE1L	1434	genome.wustl.edu	37	20	47686760	47686760	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr20:47686760G>A	ENST00000262982.2	+	8	817	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	CSE1L_ENST00000542325.1_Missense_Mutation_p.E15K|CSE1L_ENST00000396192.3_Missense_Mutation_p.E232K	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	232				FED -> WEG (in Ref. 1; AAC50367 and 2; AAC35008). {ECO:0000305}.	apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)	p.E232K(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TGAATTTTTTGAAGATAATAT	0.299																																						dbGAP											1	Substitution - Missense(1)	breast(1)											70.0	80.0	77.0					20																	47686760		2199	4298	6497	-	-	-	SO:0001583	missense	0			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.694G>A	20.37:g.47686760G>A	ENSP00000262982:p.Glu232Lys		A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	pfam_CAS_CSE1_C,pfam_Exportin/Importin_Cse1-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.E232K	ENST00000262982.2	37	c.694	CCDS13412.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.462078	0.96240	.	.	ENSG00000124207	ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.69685	-0.42;-0.42;-0.42	5.42	5.42	0.78866	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.000000	0.85682	D	0.000000	D	0.85358	0.5678	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.86859	0.2028	10	0.56958	D	0.05	-21.0424	19.5764	0.95446	0.0:0.0:1.0:0.0	.	15;232;232	B4DUC5;F8W904;P55060	.;.;XPO2_HUMAN	K	232;15;232	ENSP00000262982:E232K;ENSP00000446477:E15K;ENSP00000379495:E232K	ENSP00000262982:E232K	E	+	1	0	CSE1L	47120167	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.556000	0.98127	2.690000	0.91761	0.591000	0.81541	GAA	CSE1L	-	pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold	ENSG00000124207		0.299	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSE1L	HGNC	protein_coding	OTTHUMT00000080345.2	199	0.00	0	G	NM_001316		47686760	47686760	+1	no_errors	ENST00000262982	ensembl	human	known	69_37n	missense	82	10.87	10	SNP	1.000	A
CYP3A7	1551	genome.wustl.edu	37	7	99308411	99308411	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr7:99308411G>A	ENST00000336374.2	-	10	972	c.970C>T	c.(970-972)Cac>Tac	p.H324Y	AC069294.1_ENST00000408560.1_RNA	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	324					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.H324N(2)|p.H324Y(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	ACATCAGGGTGAGTGGCCAGT	0.448																																						dbGAP											3	Substitution - Missense(3)	lung(2)|breast(1)											91.0	78.0	83.0					7																	99308411		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.970C>T	7.37:g.99308411G>A	ENSP00000337450:p.His324Tyr		A4D288|Q9H241	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.H324Y	ENST00000336374.2	37	c.970	CCDS5673.1	7	.	.	.	.	.	.	.	.	.	.	g	6.697	0.497210	0.12762	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.71461	-0.57	3.99	-0.889	0.10580	.	0.092127	0.64402	D	0.000001	T	0.71134	0.3304	M	0.76002	2.32	0.25276	N	0.989479	P	0.37466	0.596	B	0.43123	0.409	T	0.68356	-0.5430	10	0.72032	D	0.01	.	11.9749	0.53085	0.0:0.0:0.4353:0.5647	.	324	P24462	CP3A7_HUMAN	Y	324	ENSP00000337450:H324Y	ENSP00000292414:H324Y	H	-	1	0	CYP3A7	99146347	0.998000	0.40836	0.444000	0.26895	0.231000	0.25187	2.655000	0.46707	-0.071000	0.12886	-0.493000	0.04662	CAC	CYP3A7	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000160870		0.448	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A7	HGNC	protein_coding	OTTHUMT00000345484.1	341	0.00	0	G			99308411	99308411	-1	no_errors	ENST00000336374	ensembl	human	known	69_37n	missense	116	14.07	19	SNP	0.141	A
DALRD3	55152	genome.wustl.edu	37	3	49053306	49053306	+	Splice_Site	SNP	C	C	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr3:49053306C>T	ENST00000341949.4	-	11	1450		c.e11-1		DALRD3_ENST00000395462.4_Splice_Site|DALRD3_ENST00000313778.5_Splice_Site|DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000440857.1_Missense_Mutation_p.D348N|DALRD3_ENST00000441576.2_Splice_Site|WDR6_ENST00000395474.3_3'UTR|WDR6_ENST00000608424.1_3'UTR	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3						arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)	p.?(2)		breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACTTGCATATCTAGAGACAGA	0.517																																						dbGAP											2	Unknown(2)	breast(2)											121.0	120.0	120.0					3																	49053306		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.1444-1G>A	3.37:g.49053306C>T			Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Splice_Site	SNP	-	e11-1	ENST00000341949.4	37	c.1444-1	CCDS33754.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.030727|4.030727	0.75504|0.75504	.|.	.|.	ENSG00000178149|ENSG00000178149	ENST00000438585;ENST00000441576;ENST00000341949;ENST00000395462;ENST00000313778|ENST00000440857	.|T	.|0.53206	.|0.63	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|.	.|.	.|.	.|.	.|T	.|0.47525	.|0.1450	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.38504	.|0.634	.|B	.|0.39258	.|0.295	.|T	.|0.40040	.|-0.9584	.|8	.|0.39692	.|T	.|0.17	.|.	19.7529|19.7529	0.96275|0.96275	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|348	.|C9JJG6	.|.	.|N	-1|348	.|ENSP00000403770:D348N	.|ENSP00000403770:D348N	.|D	-|-	.|1	.|0	DALRD3|DALRD3	49028310|49028310	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.985000|0.985000	0.73830|0.73830	4.948000|4.948000	0.63590|0.63590	2.665000|2.665000	0.90641|0.90641	0.556000|0.556000	0.70494|0.70494	.|GAT	DALRD3	-	-	ENSG00000178149		0.517	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DALRD3	HGNC	protein_coding	OTTHUMT00000345581.1	110	0.00	0	C	NM_018114	Intron	49053306	49053306	-1	no_errors	ENST00000341949	ensembl	human	known	69_37n	splice_site	55	15.38	10	SNP	1.000	T
DDX50	79009	genome.wustl.edu	37	10	70666626	70666626	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr10:70666626G>T	ENST00000373585.3	+	2	354	c.247G>T	c.(247-249)Gat>Tat	p.D83Y		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	83						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.D83Y(1)		breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TAGACTTTCAGATGAATTCTC	0.333																																						dbGAP											1	Substitution - Missense(1)	breast(1)											71.0	75.0	74.0					10																	70666626		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.247G>T	10.37:g.70666626G>T	ENSP00000362687:p.Asp83Tyr		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D83Y	ENST00000373585.3	37	c.247	CCDS7283.1	10	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314996	0.40996	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.21031	2.03	5.23	3.29	0.37713	.	0.991766	0.08193	N	0.983537	T	0.12518	0.0304	N	0.08118	0	0.32003	N	0.603136	P;P	0.46277	0.875;0.617	B;B	0.41510	0.359;0.261	T	0.10359	-1.0633	10	0.66056	D	0.02	-7.8114	7.9598	0.30064	0.2021:0.0:0.7979:0.0	.	83;83	Q9BQ39;B4DED6	DDX50_HUMAN;.	Y	83	ENSP00000362687:D83Y	ENSP00000362687:D83Y	D	+	1	0	DDX50	70336632	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.963000	0.29293	1.131000	0.42111	0.591000	0.81541	GAT	DDX50	-	NULL	ENSG00000107625		0.333	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX50	HGNC	protein_coding	OTTHUMT00000048363.1	115	0.00	0	G	NM_024045		70666626	70666626	+1	no_errors	ENST00000373585	ensembl	human	known	69_37n	missense	101	14.41	17	SNP	1.000	T
DHRS7	51635	genome.wustl.edu	37	14	60611685	60611685	+	Silent	SNP	C	C	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr14:60611685C>T	ENST00000216500.5	-	8	1474	c.1019G>A	c.(1018-1020)tGa>tAa	p.*340*	DHRS7_ENST00000557185.1_Silent_p.*340*|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000536410.2_Silent_p.*290*			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	0						membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		GTGCTCTTTTCAGTCATGTTT	0.358																																						dbGAP											0													70.0	82.0	78.0					14																	60611685		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF151844	CCDS9743.1	14q23.1	2011-09-20			ENSG00000100612	ENSG00000100612		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	21524	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 4"", ""short chain dehydrogenase/reductase family 34C, member 1"""	612833				10800688, 10810093, 19027726	Standard	NM_016029		Approved	retDSR4, SDR34C1	uc001xes.3	Q9Y394	OTTHUMG00000140331	ENST00000216500.5:c.1019G>A	14.37:g.60611685C>T			B2R896|Q9UKU2	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.*340	ENST00000216500.5	37	c.1019	CCDS9743.1	14	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777956	0.70107	.	.	ENSG00000100612	ENST00000360557	.	.	.	5.05	5.05	0.67936	.	0.648590	0.16243	N	0.223045	T	0.74489	0.3723	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75938	-0.3141	6	0.72032	D	0.01	.	14.6169	0.68556	0.0:1.0:0.0:0.0	.	.	.	.	K	339	.	ENSP00000353759:E339K	E	-	1	0	DHRS7	59681438	0.992000	0.36948	0.674000	0.29902	0.062000	0.15995	2.594000	0.46189	2.724000	0.93272	0.655000	0.94253	GAA	DHRS7	-	NULL	ENSG00000100612		0.358	DHRS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS7	HGNC	protein_coding	OTTHUMT00000276947.2	141	0.70	1	C	NM_016029		60611685	60611685	-1	no_errors	ENST00000216500	ensembl	human	known	69_37n	silent	46	24.59	15	SNP	0.911	T
DLGAP2	9228	genome.wustl.edu	37	8	1626478	1626478	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr8:1626478G>T	ENST00000421627.2	+	9	2281	c.2147G>T	c.(2146-2148)gGc>gTc	p.G716V	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	795					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.G724V(1)|p.G760V(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GAGGACAAAGGCCTTCAGTTC	0.612																																						dbGAP											2	Substitution - Missense(2)	breast(2)											59.0	67.0	65.0					8																	1626478		2123	4219	6342	-	-	-	SO:0001583	missense	0			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2147G>T	8.37:g.1626478G>T	ENSP00000400258:p.Gly716Val		A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	pfam_GKAP	p.G716V	ENST00000421627.2	37	c.2147	CCDS47760.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.445295|4.445295	0.83993|0.83993	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|T	.|0.17854	.|2.25	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	.|0.045182	.|0.85682	.|D	.|0.000000	T|T	0.40171|0.40171	0.1106|0.1106	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.998	.|D;D	.|0.70227	.|0.946;0.968	T|T	0.06899|0.06899	-1.0801|-1.0801	5|10	.|0.25751	.|T	.|0.34	-12.6693|-12.6693	18.7121|18.7121	0.91661|0.91661	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|781;795	.|Q9P1A6-2;Q9P1A6	.|.;DLGP2_HUMAN	S|V	719|747;716	.|ENSP00000400258:G716V	.|ENSP00000348366:G747V	A|G	+|+	1|2	0|0	DLGAP2|DLGAP2	1613885|1613885	1.000000|1.000000	0.71417|0.71417	0.943000|0.943000	0.38184|0.38184	0.949000|0.949000	0.60115|0.60115	7.199000|7.199000	0.77831|0.77831	2.406000|2.406000	0.81754|0.81754	0.557000|0.557000	0.71058|0.71058	GCC|GGC	DLGAP2	-	pfam_GKAP	ENSG00000198010		0.612	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP2	HGNC	protein_coding	OTTHUMT00000374478.1	62	0.00	0	G	NM_004745		1626478	1626478	+1	no_errors	ENST00000421627	ensembl	human	known	69_37n	missense	40	13.04	6	SNP	1.000	T
DNAH12	201625	genome.wustl.edu	37	3	57443474	57443474	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr3:57443474G>A	ENST00000351747.2	-	22	3421	c.3241C>T	c.(3241-3243)Cac>Tac	p.H1081Y		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	1081	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.H1081Y(1)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						ATCACATCGTGAACACTCCGG	0.483																																						dbGAP											1	Substitution - Missense(1)	breast(1)											54.0	49.0	51.0					3																	57443474		692	1591	2283	-	-	-	SO:0001583	missense	0			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.3241C>T	3.37:g.57443474G>A	ENSP00000295937:p.His1081Tyr		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.H1081Y	ENST00000351747.2	37	c.3241		3	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313212	0.40895	.	.	ENSG00000174844	ENST00000351747;ENST00000495027	T;T	0.57273	0.41;0.41	5.72	5.72	0.89469	Dynein heavy chain, domain-2 (1);	.	.	.	.	T	0.50154	0.1599	L	0.39633	1.23	0.80722	D	1	P	0.46706	0.883	B	0.41440	0.357	T	0.54820	-0.8236	9	0.66056	D	0.02	.	19.883	0.96905	0.0:0.0:1.0:0.0	.	1081	Q6ZR08	DYH12_HUMAN	Y	1081;1104	ENSP00000295937:H1081Y;ENSP00000418137:H1104Y	ENSP00000295937:H1081Y	H	-	1	0	DNAH12	57418514	1.000000	0.71417	1.000000	0.80357	0.295000	0.27426	7.339000	0.79282	2.682000	0.91365	0.609000	0.83330	CAC	DNAH12	-	pfam_Dynein_heavy_dom-2	ENSG00000174844		0.483	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		103	0.00	0	G	NM_178504		57443474	57443474	-1	no_errors	ENST00000351747	ensembl	human	known	69_37n	missense	59	15.71	11	SNP	0.998	A
DNAH2	146754	genome.wustl.edu	37	17	7627002	7627002	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr17:7627002G>C	ENST00000572933.1	+	3	1683	c.223G>C	c.(223-225)Gat>Cat	p.D75H	DNAH2_ENST00000389173.2_Missense_Mutation_p.D75H|DNAH2_ENST00000570791.1_Missense_Mutation_p.D75H|DNAH2_ENST00000082259.3_Missense_Mutation_p.D75H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	75	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D75H(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCCCGAGGCAGATGTGGTAGG	0.483																																						dbGAP											1	Substitution - Missense(1)	breast(1)											133.0	114.0	120.0					17																	7627002		2203	4300	6503	-	-	-	SO:0001583	missense	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.223G>C	17.37:g.7627002G>C	ENSP00000458355:p.Asp75His		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.D75H	ENST00000572933.1	37	c.223	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607028	0.46527	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.25749	1.78;1.96	4.03	3.05	0.35203	.	2.547210	0.01587	N	0.021351	T	0.29716	0.0742	N	0.14661	0.345	0.09310	N	0.999994	D;D	0.69078	0.969;0.997	P;P	0.60473	0.603;0.875	T	0.41270	-0.9518	10	0.16420	T	0.52	.	7.6593	0.28394	0.1148:0.0:0.8852:0.0	.	75;75	Q9P225;Q9P225-3	DYH2_HUMAN;.	H	75	ENSP00000373825:D75H;ENSP00000082259:D75H	ENSP00000082259:D75H	D	+	1	0	DNAH2	7567727	0.865000	0.29922	0.301000	0.25044	0.072000	0.16883	1.456000	0.35201	1.282000	0.44496	0.561000	0.74099	GAT	DNAH2	-	NULL	ENSG00000183914		0.483	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	272	0.00	0	G	NM_020877		7627002	7627002	+1	no_errors	ENST00000389173	ensembl	human	known	69_37n	missense	240	11.76	32	SNP	0.327	C
ECM2	1842	genome.wustl.edu	37	9	95277306	95277306	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr9:95277306C>G	ENST00000344604.5	-	4	810	c.661G>C	c.(661-663)Gaa>Caa	p.E221Q	ECM2_ENST00000444490.2_Missense_Mutation_p.E199Q|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	221					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.E221Q(1)|p.E199Q(1)|p.E222delE(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GTATCTTCTTCTTTCACTTCT	0.463																																						dbGAP											3	Substitution - Missense(2)|Deletion - In frame(1)	breast(2)|prostate(1)											164.0	176.0	172.0					9																	95277306		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.661G>C	9.37:g.95277306C>G	ENSP00000344758:p.Glu221Gln		B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C	p.E221Q	ENST00000344604.5	37	c.661	CCDS6698.1	9	.	.	.	.	.	.	.	.	.	.	C	3.781	-0.045687	0.07452	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.54071	0.73;0.59	4.81	1.15	0.20763	.	0.458836	0.23904	N	0.043405	T	0.25568	0.0622	N	0.11560	0.145	0.09310	N	1	B;B;B	0.33238	0.18;0.18;0.403	B;B;B	0.31337	0.06;0.06;0.128	T	0.12477	-1.0546	10	0.23302	T	0.38	.	5.6751	0.17743	0.1218:0.2998:0.0:0.5784	.	221;199;199	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	Q	199;221	ENSP00000393971:E199Q;ENSP00000344758:E221Q	ENSP00000344758:E221Q	E	-	1	0	ECM2	94317127	0.429000	0.25530	0.112000	0.21494	0.040000	0.13550	0.578000	0.23773	0.310000	0.22990	-0.312000	0.09012	GAA	ECM2	-	NULL	ENSG00000106823		0.463	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM2	HGNC	protein_coding	OTTHUMT00000053091.1	313	0.00	0	C	NM_001393		95277306	95277306	-1	no_errors	ENST00000344604	ensembl	human	known	69_37n	missense	153	16.39	30	SNP	0.031	G
DNM1	1759	genome.wustl.edu	37	9	130982538	130982538	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr9:130982538G>T	ENST00000372923.3	+	6	859	c.767G>T	c.(766-768)cGa>cTa	p.R256L	DNM1_ENST00000486160.1_Missense_Mutation_p.R256L|DNM1_ENST00000341179.7_Missense_Mutation_p.R256L|DNM1_ENST00000475805.1_Missense_Mutation_p.R256L|DNM1_ENST00000393594.3_Missense_Mutation_p.R256L	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	256	Dynamin-type G.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.R256L(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GCTGCTGAACGAAAGTTCTTC	0.547																																					GBM(113;146 1575 2722 28670 29921)	dbGAP											2	Substitution - Missense(2)	breast(2)											175.0	159.0	164.0					9																	130982538		2203	4300	6503	-	-	-	SO:0001583	missense	0			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.767G>T	9.37:g.130982538G>T	ENSP00000362014:p.Arg256Leu		A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin	p.R256L	ENST00000372923.3	37	c.767	CCDS6895.1	9	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906634	0.92107	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160	T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87	5.71	5.71	0.89125	Dynamin central domain (1);	0.000000	0.85682	D	0.000000	D	0.87916	0.6298	M	0.83603	2.65	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.99;0.993	D	0.88409	0.3020	10	0.62326	D	0.03	-19.194	19.8432	0.96699	0.0:0.0:1.0:0.0	.	256;256;256	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	L	256;256;256;251;256;256	ENSP00000419225:R256L;ENSP00000345680:R256L;ENSP00000362014:R256L;ENSP00000377219:R256L;ENSP00000420045:R256L	ENSP00000345680:R256L	R	+	2	0	DNM1	130022359	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	9.835000	0.99442	2.700000	0.92200	0.462000	0.41574	CGA	DNM1	-	pfam_Dynamin_central	ENSG00000106976		0.547	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNM1	HGNC	protein_coding	OTTHUMT00000054367.1	70	0.00	0	G	NM_004408		130982538	130982538	+1	no_errors	ENST00000372923	ensembl	human	known	69_37n	missense	47	17.24	10	SNP	1.000	T
EIF3E	3646	genome.wustl.edu	37	8	109260902	109260902	+	Silent	SNP	G	G	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr8:109260902G>A	ENST00000220849.5	-	1	92	c.30C>T	c.(28-30)atC>atT	p.I10I	EIF3E_ENST00000519030.1_5'UTR	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E									p.I10I(2)	EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			AAAAGTGCGCGATGCGAGTAG	0.512																																					GBM(15;360 410 8460 34179 52246)	dbGAP											2	Substitution - coding silent(2)	NS(1)|breast(1)											94.0	85.0	88.0					8																	109260902		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"""eukaryotic translation initiation factor 3, subunit 6 48kDa"""	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.30C>T	8.37:g.109260902G>A				Missense_Mutation	SNP	pfam_eIF3_su6_N	p.S9L	ENST00000220849.5	37	c.26	CCDS6308.1	8	.	.	.	.	.	.	.	.	.	.	G	11.56	1.675451	0.29783	.	.	ENSG00000104408	ENST00000521440	.	.	.	5.28	3.5	0.40072	.	.	.	.	.	T	0.61763	0.2373	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58165	-0.7684	4	.	.	.	-12.5321	11.1886	0.48671	0.1486:0.0:0.8514:0.0	.	.	.	.	L	9	.	.	S	-	2	0	EIF3E	109330078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.784000	0.38674	0.809000	0.34255	0.655000	0.94253	TCG	EIF3E	-	pfam_eIF3_su6_N	ENSG00000104408		0.512	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3E	HGNC	protein_coding	OTTHUMT00000380612.2	109	0.00	0	G	NM_001568		109260902	109260902	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000521440	ensembl	human	putative	69_37n	missense	104	18.46	24	SNP	1.000	A
EPPIN	57119	genome.wustl.edu	37	20	44166723	44166723	+	IGR	SNP	G	G	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr20:44166723G>A	ENST00000354280.4	-	0	1987				EPPIN-WFDC6_ENST00000504988.1_Silent_p.P134P|WFDC6_ENST00000600168.1_Silent_p.P34P|WFDC6_ENST00000372670.3_Silent_p.P34P|EPPIN_ENST00000555685.1_Silent_p.P134P	NM_020398.3	NP_065131.1	O95925	EPPI_HUMAN	epididymal peptidase inhibitor						defense response to bacterium (GO:0042742)|negative regulation of peptidase activity (GO:0010466)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P34P(1)									CTTTGATTTTGGGACACGGCT	0.522																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											181.0	169.0	173.0					20																	44166723		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			AF286370	CCDS13359.1	20q13.12	2014-01-21	2012-08-22	2012-08-22	ENSG00000101448	ENSG00000101448		"""WAP four-disulfide core domain containing"""	15932	protein-coding gene	gene with protein product	"""epididymal protease inhibitor"", ""cancer/testis antigen 72"""	609031	"""serine protease inhibitor-like, with Kunitz and WAP domains 1 (eppin)"", ""serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin)"""	SPINLW1		11404006, 12206714	Standard	NM_020398		Approved	EPPIN1, EPPIN2, EPPIN3, dJ461P17.2, WAP7, WFDC7, CT71		O95925	OTTHUMG00000032588		20.37:g.44166723G>A			A6PVD6|Q86TP9|Q96SD7|Q9HD30	Silent	SNP	pfam_Prot_inh_Kunz-m,pfam_Whey_acidic_protein_4-diS_core,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.P134	ENST00000354280.4	37	c.402	CCDS13359.1	20																																																																																			EPPIN	-	pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core	ENSG00000101448		0.522	EPPIN-001	KNOWN	basic|CCDS	protein_coding	EPPIN	HGNC	protein_coding	OTTHUMT00000079467.4	278	0.00	0	G			44166723	44166723	-1	no_errors	ENST00000555685	ensembl	human	known	69_37n	silent	298	17.22	62	SNP	0.376	A
ERAP2	64167	genome.wustl.edu	37	5	96237303	96237303	+	Missense_Mutation	SNP	G	G	A	rs113436741		TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr5:96237303G>A	ENST00000437043.3	+	11	2377	c.1666G>A	c.(1666-1668)Ggg>Agg	p.G556R	ERAP2_ENST00000379904.4_Missense_Mutation_p.G511R|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000515095.1_3'UTR	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	556					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TAAACAAGACGGGTGTTCACT	0.532													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19349	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													73.0	72.0	72.0					5																	96237303		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.1666G>A	5.37:g.96237303G>A	ENSP00000400376:p.Gly556Arg		Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.G556R	ENST00000437043.3	37	c.1666	CCDS4086.1	5	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.63	2.594263	0.46214	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000379904	T;T;T	0.01947	4.9;4.54;4.89	4.53	2.71	0.32032	.	0.078452	0.50627	D	0.000111	T	0.05364	0.0142	M	0.74546	2.27	0.80722	D	1	D;P	0.54601	0.967;0.945	P;B	0.48627	0.584;0.379	T	0.27123	-1.0083	10	0.56958	D	0.05	.	8.2543	0.31746	0.0856:0.0:0.7583:0.1561	.	511;556	Q6P179-3;Q6P179	.;ERAP2_HUMAN	R	556;556;511	ENSP00000400376:G556R;ENSP00000421175:G556R;ENSP00000369235:G511R	ENSP00000369235:G511R	G	+	1	0	ERAP2	96263059	1.000000	0.71417	0.069000	0.20011	0.091000	0.18340	4.377000	0.59562	0.427000	0.26145	0.551000	0.68910	GGG	ERAP2	-	NULL	ENSG00000164308		0.532	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAP2	HGNC	protein_coding	OTTHUMT00000250623.2	111	0.00	0	G	NM_022350		96237303	96237303	+1	no_errors	ENST00000437043	ensembl	human	known	69_37n	missense	95	18.64	22	SNP	0.667	A
RP1-274L7.1	0	genome.wustl.edu	37	X	129629236	129629236	+	lincRNA	SNP	C	C	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chrX:129629236C>T	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA														p.T35M(1)									TATCCTTCCACGACAGCCACA	0.498																																						dbGAP											1	Substitution - Missense(1)	breast(1)											82.0	78.0	79.0					X																	129629236		2203	4297	6500	-	-	-			0																															X.37:g.129629236C>T				RNA	SNP	-	NULL	ENST00000458525.1	37	NULL		X																																																																																			FAM45B	-	-	ENSG00000221930		0.498	RP1-274L7.1-001	KNOWN	basic	lincRNA	FAM45B	HGNC	lincRNA	OTTHUMT00000058271.1	378	0.00	0	C			129629236	129629236	+1	no_errors	ENST00000592932	ensembl	human	known	69_37n	rna	160	25.93	56	SNP	0.985	T
FBN1	2200	genome.wustl.edu	37	15	48780599	48780599	+	Silent	SNP	G	G	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr15:48780599G>A	ENST00000316623.5	-	26	3629	c.3174C>T	c.(3172-3174)ggC>ggT	p.G1058G		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1058	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		G -> D (in MFS). {ECO:0000269|PubMed:16222657}.|G -> GC (in MFS).		extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G1058G(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAAGAGCAAAGCCGCTGTCAC	0.458																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											91.0	86.0	88.0					15																	48780599		2198	4296	6494	-	-	-	SO:0001819	synonymous_variant	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3174C>T	15.37:g.48780599G>A			B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.G1058	ENST00000316623.5	37	c.3174	CCDS32232.1	15																																																																																			FBN1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom	ENSG00000166147		0.458	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	120	0.00	0	G			48780599	48780599	-1	no_errors	ENST00000316623	ensembl	human	known	69_37n	silent	32	37.25	19	SNP	1.000	A
FBN3	84467	genome.wustl.edu	37	19	8176866	8176867	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr19:8176866_8176867insT	ENST00000600128.1	-	31	4369_4370	c.3955_3956insA	c.(3955-3957)tgtfs	p.C1319fs	FBN3_ENST00000270509.2_Frame_Shift_Ins_p.C1319fs|FBN3_ENST00000601739.1_Frame_Shift_Ins_p.C1319fs			Q75N90	FBN3_HUMAN	fibrillin 3	1319	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTCACCGTGACATTCGAAGCCA	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3955_3956insA	19.37:g.8176866_8176867insT	ENSP00000470498:p.Cys1319fs		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Frame_Shift_Ins	INS	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.C1319fs	ENST00000600128.1	37	c.3956_3955	CCDS12196.1	19																																																																																			FBN3	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin	ENSG00000142449		0.644	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	124	0.00	0	-	NM_032447		8176866	8176867	-1	no_errors	ENST00000270509	ensembl	human	known	69_37n	frame_shift_ins	47	12.96	7	INS	1.000:1.000	T
FOXP2	93986	genome.wustl.edu	37	7	114329880	114329880	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr7:114329880G>A	ENST00000393494.2	+	17	2326	c.2047G>A	c.(2047-2049)Gaa>Aaa	p.E683K	FOXP2_ENST00000408937.3_Missense_Mutation_p.E708K|FOXP2_ENST00000403559.4_Missense_Mutation_p.E700K|FOXP2_ENST00000393489.3_Missense_Mutation_p.E591K|FOXP2_ENST00000393498.2_Missense_Mutation_p.E662K|FOXP2_ENST00000350908.4_Missense_Mutation_p.E683K|FOXP2_ENST00000393491.3_Missense_Mutation_p.E498K			O15409	FOXP2_HUMAN	forkhead box P2	683					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E708K(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TGCAGAGGATGAAGACTGCCC	0.403																																						dbGAP											1	Substitution - Missense(1)	breast(1)											139.0	119.0	126.0					7																	114329880		2203	4300	6503	-	-	-	SO:0001583	missense	0			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.2047G>A	7.37:g.114329880G>A	ENSP00000377132:p.Glu683Lys		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E708K	ENST00000393494.2	37	c.2122	CCDS5760.1	7	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277245	0.59758	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.91237	-2.51;-2.51;-2.52;-2.51;-2.6;-2.81	5.96	5.96	0.96718	.	0.045522	0.85682	D	0.000000	D	0.84142	0.5407	N	0.14661	0.345	0.80722	D	1	P;P;B;P;P	0.40731	0.455;0.608;0.128;0.455;0.728	B;B;B;B;B	0.36092	0.052;0.074;0.035;0.052;0.217	D	0.85237	0.1036	10	0.52906	T	0.07	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	682;700;498;683;708	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	K	683;708;700;683;660;591;498	ENSP00000377132:E683K;ENSP00000386200:E708K;ENSP00000385069:E700K;ENSP00000265436:E683K;ENSP00000377129:E591K;ENSP00000377130:E498K	ENSP00000265436:E683K	E	+	1	0	FOXP2	114117116	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.476000	0.97823	2.831000	0.97527	0.650000	0.86243	GAA	FOXP2	-	NULL	ENSG00000128573		0.403	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	FOXP2	HGNC	protein_coding	OTTHUMT00000317366.1	180	0.00	0	G	NM_014491		114329880	114329880	+1	no_errors	ENST00000408937	ensembl	human	known	69_37n	missense	142	12.88	21	SNP	1.000	A
GABRG3	2567	genome.wustl.edu	37	15	27777879	27777879	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr15:27777879G>A	ENST00000333743.6	+	10	1510	c.1256G>A	c.(1255-1257)tGc>tAc	p.C419Y	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	419					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.C419Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGCTTCTTCTGCTGCTATGAA	0.463																																					NSCLC(114;800 1656 7410 37729 45293)	dbGAP											1	Substitution - Missense(1)	breast(1)											101.0	104.0	103.0					15																	27777879		1967	4142	6109	-	-	-	SO:0001583	missense	0				CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.1256G>A	15.37:g.27777879G>A	ENSP00000331912:p.Cys419Tyr		G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.C419Y	ENST00000333743.6	37	c.1256	CCDS45195.1	15	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692692	0.88735	.	.	ENSG00000182256	ENST00000333743	D	0.83591	-1.74	5.85	5.85	0.93711	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.88437	0.6436	L	0.60957	1.885	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82701	-0.0327	10	0.07030	T	0.85	.	19.1488	0.93479	0.0:0.0:1.0:0.0	.	419	Q99928	GBRG3_HUMAN	Y	419	ENSP00000331912:C419Y	ENSP00000331912:C419Y	C	+	2	0	GABRG3	25451474	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.407000	0.97325	2.772000	0.95346	0.650000	0.86243	TGC	GABRG3	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,tigrfam_Neur_channel	ENSG00000182256		0.463	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG3	HGNC	protein_coding	OTTHUMT00000103584.2	268	0.00	0	G			27777879	27777879	+1	no_errors	ENST00000333743	ensembl	human	known	69_37n	missense	96	48.11	89	SNP	1.000	A
GOLGA8T	653075	genome.wustl.edu	37	15	30435865	30435865	+	Silent	SNP	C	C	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr15:30435865C>A	ENST00000569052.1	+	14	1257	c.1257C>A	c.(1255-1257)ctC>ctA	p.L419L	AC120045.2_ENST00000408858.1_RNA|RN7SL469P_ENST00000491512.2_RNA					golgin A8 family, member T																		AGCTGAGCCTCATGGCTCTCC	0.617																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0					15q13.2	2013-01-17			ENSG00000261247	ENSG00000261247			44410	other	unknown							Standard	NR_033933		Approved		uc021sha.1		OTTHUMG00000175638	ENST00000569052.1:c.1257C>A	15.37:g.30435865C>A				Silent	SNP	NULL	p.L419	ENST00000569052.1	37	c.1257		15																																																																																			RP5-1086D14.3	-	NULL	ENSG00000261247		0.617	GOLGA8T-001	NOVEL	basic|appris_principal	protein_coding	GOLGA8J	Clone_based_vega_gene	protein_coding	OTTHUMT00000430690.1	28	0.00	0	C	NR_033933		30435865	30435865	+1	no_errors	ENST00000569052	ensembl	human	novel	69_37n	silent	16	15.79	3	SNP	0.696	A
GOLM1	51280	genome.wustl.edu	37	9	88650389	88650389	+	Silent	SNP	C	C	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr9:88650389C>T	ENST00000388712.3	-	8	1077	c.909G>A	c.(907-909)caG>caA	p.Q303Q	GOLM1_ENST00000388711.3_Silent_p.Q303Q|GOLM1_ENST00000257504.6_5'Flank	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	303					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)		p.Q303Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						ACAGGGCAGCCTGCACCTGTG	0.652											OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - coding silent(1)	breast(1)											112.0	123.0	119.0					9																	88650389		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"""golgi phosphoprotein 2"", ""chromosome 9 open reading frame 155"""	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.909G>A	9.37:g.88650389C>T		1261	Q6IAF4|Q9NRB9	Silent	SNP	NULL	p.Q303	ENST00000388712.3	37	c.909	CCDS35054.1	9																																																																																			GOLM1	-	NULL	ENSG00000135052		0.652	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLM1	HGNC	protein_coding	OTTHUMT00000052904.2	131	0.00	0	C	NM_177937		88650389	88650389	-1	no_errors	ENST00000388711	ensembl	human	known	69_37n	silent	108	28.95	44	SNP	0.013	T
HIST1H1C	3006	genome.wustl.edu	37	6	26056117	26056117	+	Silent	SNP	C	C	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr6:26056117C>T	ENST00000343677.2	-	1	582	c.540G>A	c.(538-540)gcG>gcA	p.A180A		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	180					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.A180A(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TCTTGGGCTTCGCAACCTTGG	0.542																																						dbGAP											2	Substitution - coding silent(2)	NS(1)|lung(1)											97.0	106.0	103.0					6																	26056117		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.540G>A	6.37:g.26056117C>T			A8K4I2	Silent	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.A180	ENST00000343677.2	37	c.540	CCDS4577.1	6																																																																																			HIST1H1C	-	prints_Histone_H5	ENSG00000187837		0.542	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1C	HGNC	protein_coding	OTTHUMT00000043372.1	122	0.81	1	C	NM_005319		26056117	26056117	-1	no_errors	ENST00000343677	ensembl	human	known	69_37n	silent	81	14.74	14	SNP	1.000	T
HTR1F	3355	genome.wustl.edu	37	3	88040228	88040229	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr3:88040228_88040229insA	ENST00000319595.4	+	1	383_384	c.329_330insA	c.(328-333)tccatcfs	p.I111fs		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	111					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TGCACGTGCTCCATCTTGCATC	0.47																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	Exception_encountered	3.37:g.88040228_88040229insA	ENSP00000322924:p.Ile111fs			Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT1F_rcpt,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt	p.I111fs	ENST00000319595.4	37	c.329_330	CCDS2920.1	3																																																																																			HTR1F	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000179097		0.470	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1F	HGNC	protein_coding	OTTHUMT00000352890.1	51	0.00	0	-	NM_000866		88040228	88040229	+1	no_errors	ENST00000319595	ensembl	human	known	69_37n	frame_shift_ins	61	30.68	27	INS	1.000:1.000	A
IFNA13	3447	genome.wustl.edu	37	9	21367848	21367848	+	Silent	SNP	C	C	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr9:21367848C>T	ENST00000449498.1	-	1	227	c.162G>A	c.(160-162)ctG>ctA	p.L54L		NM_006900.3	NP_008831.3	P01562	IFNA1_HUMAN	interferon, alpha 13	53					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.L53L(1)		breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		GTCTGTCCATCAGACAGGAGG	0.537																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											13.0	16.0	15.0					9																	21367848		2156	4251	6407	-	-	-	SO:0001819	synonymous_variant	0				CCDS6505.2	9p22	2010-12-10			ENSG00000233816	ENSG00000233816		"""Interferons"""	5419	protein-coding gene	gene with protein product		147578				1385305	Standard	NM_006900		Approved		uc003zpa.2	P01562	OTTHUMG00000019675	ENST00000449498.1:c.162G>A	9.37:g.21367848C>T			D4Q9M8|Q14605|Q2M1L8|Q52LB8|Q5VYQ2|Q7M4Q1|Q8WZ68|Q9UMJ3	Silent	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.L54	ENST00000449498.1	37	c.162	CCDS6505.2	9																																																																																			IFNA13	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,prints_Interferon_alpha/beta/delta	ENSG00000233816		0.537	IFNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA13	HGNC	protein_coding	OTTHUMT00000051904.2	82	0.00	0	C	NM_006900		21367848	21367848	-1	no_errors	ENST00000449498	ensembl	human	known	69_37n	silent	74	10.84	9	SNP	0.000	T
IL27RA	9466	genome.wustl.edu	37	19	14143266	14143266	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr19:14143266C>G	ENST00000263379.2	+	2	294	c.169C>G	c.(169-171)Ctt>Gtt	p.L57V	CTB-55O6.4_ENST00000590528.1_RNA	NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	57					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)	p.L57V(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GTGGGAGCCTCTTGGGGACCT	0.622																																					Colon(164;1849 1896 4443 37792 47834)	dbGAP											1	Substitution - Missense(1)	breast(1)											80.0	86.0	84.0					19																	14143266		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.169C>G	19.37:g.14143266C>G	ENSP00000263379:p.Leu57Val		A0N0L1|O60624	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.L57V	ENST00000263379.2	37	c.169	CCDS12303.1	19	.	.	.	.	.	.	.	.	.	.	C	11.83	1.754868	0.31046	.	.	ENSG00000104998	ENST00000263379	T	0.61627	0.09	3.93	-1.39	0.08997	.	0.617480	0.12239	N	0.486681	T	0.30572	0.0769	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.11397	-1.0589	10	0.29301	T	0.29	.	0.814	0.01098	0.1831:0.4026:0.1796:0.2347	.	57	Q6UWB1	I27RA_HUMAN	V	57	ENSP00000263379:L57V	ENSP00000263379:L57V	L	+	1	0	IL27RA	14004266	0.000000	0.05858	0.716000	0.30569	0.990000	0.78478	-1.163000	0.03138	0.229000	0.21039	0.491000	0.48974	CTT	IL27RA	-	NULL	ENSG00000104998		0.622	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL27RA	HGNC	protein_coding	OTTHUMT00000458539.1	46	0.00	0	C	NM_004843		14143266	14143266	+1	no_errors	ENST00000263379	ensembl	human	known	69_37n	missense	43	18.87	10	SNP	0.040	G
KIAA1731	85459	genome.wustl.edu	37	11	93399976	93399977	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr11:93399976_93399977insT	ENST00000325212.6	+	2	265_266	c.103_104insT	c.(103-105)ctafs	p.L35fs	KIAA1731_ENST00000411936.1_Frame_Shift_Ins_p.L35fs|KIAA1731_ENST00000344196.4_5'UTR			Q9C0D2	K1731_HUMAN	KIAA1731	35						centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACTAAGATTGCTACAGGTATGA	0.312																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.104dupT	11.37:g.93399977_93399977dupT	ENSP00000316681:p.Leu35fs		C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Frame_Shift_Ins	INS	NULL	p.Q36fs	ENST00000325212.6	37	c.103_104	CCDS44708.1	11																																																																																			KIAA1731	-	NULL	ENSG00000166004		0.312	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1731	HGNC	protein_coding	OTTHUMT00000394640.1	172	0.00	0	-	NM_033395		93399976	93399977	+1	no_errors	ENST00000411936	ensembl	human	known	69_37n	frame_shift_ins	94	36.05	53	INS	0.999:0.995	T
KLHDC10	23008	genome.wustl.edu	37	7	129761906	129761906	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr7:129761906A>T	ENST00000335420.5	+	5	777	c.643A>T	c.(643-645)Atc>Ttc	p.I215F		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	215						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I215F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						TATGGCCATCATCAATGGCTC	0.408																																						dbGAP											1	Substitution - Missense(1)	breast(1)											108.0	86.0	94.0					7																	129761906		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"""scruin like at the midline homolog (Drosophila)"""	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.643A>T	7.37:g.129761906A>T	ENSP00000334140:p.Ile215Phe		Q86Y99|Q92554	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1	p.I215F	ENST00000335420.5	37	c.643	CCDS5815.1	7	.	.	.	.	.	.	.	.	.	.	A	12.04	1.819289	0.32145	.	.	ENSG00000128607	ENST00000335420;ENST00000468226	T;T	0.62941	-0.01;-0.01	5.47	5.47	0.80525	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.66607	0.2806	L	0.37697	1.125	0.80722	D	1	B;P;D	0.71674	0.122;0.893;0.998	B;P;D	0.66351	0.1;0.476;0.943	T	0.61058	-0.7139	10	0.10636	T	0.68	-11.7376	14.7329	0.69397	1.0:0.0:0.0:0.0	.	64;72;215	Q96G43;Q6PID8-2;Q6PID8	.;.;KLD10_HUMAN	F	215;72	ENSP00000334140:I215F;ENSP00000420034:I72F	ENSP00000334140:I215F	I	+	1	0	KLHDC10	129549142	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.313000	0.96297	2.064000	0.61679	0.533000	0.62120	ATC	KLHDC10	-	pfam_Kelch_1,pfam_Kelch_2	ENSG00000128607		0.408	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC10	HGNC	protein_coding	OTTHUMT00000349347.2	147	0.00	0	A			129761906	129761906	+1	no_errors	ENST00000335420	ensembl	human	known	69_37n	missense	85	15.84	16	SNP	1.000	T
KPNA2	3838	genome.wustl.edu	37	17	66036815	66036815	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr17:66036815G>A	ENST00000537025.2	+	4	855	c.235G>A	c.(235-237)Gat>Aat	p.D79N	KPNA2_ENST00000330459.3_Missense_Mutation_p.D79N			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	79					cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.D79N(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTGGTCTGTTGATGACATTGT	0.388																																						dbGAP											1	Substitution - Missense(1)	breast(1)											154.0	150.0	152.0					17																	66036815		2203	4299	6502	-	-	-	SO:0001583	missense	0			U09559	CCDS32713.1	17q24.2	2013-02-14						"""Importins"", ""Armadillo repeat containing"""	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.235G>A	17.37:g.66036815G>A	ENSP00000438483:p.Asp79Asn		B9EJD6|Q53YE3|Q9BRU5	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.D79N	ENST00000537025.2	37	c.235	CCDS32713.1	17	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438187	0.83885	.	.	ENSG00000182481	ENST00000330459;ENST00000537025	T;T	0.28454	1.61;1.61	5.42	5.42	0.78866	Importin-alpha, importin-beta-binding domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.261177	0.35772	U	0.002995	T	0.32255	0.0823	L	0.42744	1.35	0.53688	D	0.999974	B	0.06786	0.001	B	0.17098	0.017	T	0.06127	-1.0844	10	0.54805	T	0.06	.	19.2168	0.93781	0.0:0.0:1.0:0.0	.	79	P52292	IMA2_HUMAN	N	79	ENSP00000332455:D79N;ENSP00000438483:D79N	ENSP00000332455:D79N	D	+	1	0	KPNA2	63467277	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.003000	0.93577	2.536000	0.85505	0.453000	0.30009	GAT	KPNA2	-	pfam_Importin-a_IBB,superfamily_ARM-type_fold	ENSG00000182481		0.388	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KPNA2	HGNC	protein_coding	OTTHUMT00000448111.1	93	0.00	0	G	NM_002266		66036815	66036815	+1	no_errors	ENST00000330459	ensembl	human	known	69_37n	missense	45	23.73	14	SNP	1.000	A
CDKN2D	1032	genome.wustl.edu	37	19	10675704	10675704	+	IGR	SNP	C	C	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr19:10675704C>T	ENST00000393599.2	-	0	1422				KRI1_ENST00000361821.5_Missense_Mutation_p.D61N|KRI1_ENST00000537964.1_5'UTR|KRI1_ENST00000312962.6_Missense_Mutation_p.D65N	NM_001800.3|NM_079421.2	NP_001791.1|NP_524145.1	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)						autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to retinoic acid (GO:0032526)|response to UV (GO:0009411)|response to vitamin D (GO:0033280)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.D65N(1)		endometrium(3)|lung(2)|ovary(1)	6			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			TGCTGGGGATCAAATTCCTAG	0.498											OREG0025239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - Missense(1)	breast(1)											62.0	66.0	64.0					19																	10675704		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0				CCDS12244.1	19p13	2013-01-10				ENSG00000129355		"""Ankyrin repeat domain containing"""	1790	protein-coding gene	gene with protein product		600927				8575754	Standard	NM_079421		Approved	INK4D, p19	uc002mpa.3	P55273			19.37:g.10675704C>T		666	Q13102|Q6FGE9	Missense_Mutation	SNP	pfam_KRR1-interact_protein_1	p.D65N	ENST00000393599.2	37	c.193	CCDS12244.1	19	.	.	.	.	.	.	.	.	.	.	c	22.3	4.273685	0.80580	.	.	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000541101;ENST00000539027	T;T;T	0.51325	0.71;0.71;0.71	4.09	4.09	0.47781	.	0.000000	0.85682	U	0.000000	T	0.58004	0.2092	L	0.39147	1.195	0.52099	D	0.999941	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.53697	-0.8402	10	0.25106	T	0.35	-37.7161	15.4058	0.74877	0.0:1.0:0.0:0.0	.	65;61	Q8N9T8;D3YTE0	KRI1_HUMAN;.	N	65;61;65;56	ENSP00000320917:D65N;ENSP00000355366:D61N;ENSP00000445789:D56N	ENSP00000320917:D65N	D	-	1	0	KRI1	10536704	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	4.140000	0.58031	1.984000	0.57885	0.442000	0.29010	GAT	KRI1	-	NULL	ENSG00000129347		0.498	CDKN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRI1	HGNC	protein_coding	OTTHUMT00000452030.1	96	0.00	0	C	NM_079421		10675704	10675704	-1	no_errors	ENST00000312962	ensembl	human	known	69_37n	missense	45	56.73	59	SNP	1.000	T
LMNA	4000	genome.wustl.edu	37	1	156108366	156108366	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr1:156108366delG	ENST00000368300.4	+	11	1998	c.1786delG	c.(1786-1788)gacfs	p.D596fs	LMNA_ENST00000368299.3_Frame_Shift_Del_p.D596fs|LMNA_ENST00000448611.2_Frame_Shift_Del_p.D484fs|LMNA_ENST00000473598.2_Frame_Shift_Del_p.D497fs|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000347559.2_Frame_Shift_Del_p.D566fs	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	596	Tail.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GCAGCCTGCCGACAAGGCATC	0.682									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																													dbGAP											0			GRCh37	CM064113	lmna1	M							18.0	18.0	18.0					1																	156108366		2200	4299	6499	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"""Intermediate filaments type V, lamins"""	6636	protein-coding gene	gene with protein product		150330	"""cardiomyopathy, dilated 1A (autosomal dominant)"", ""limb girdle muscular dystrophy 1B (autosomal dominant)"", ""progeria 1 (Hutchinson-Gilford type)"", ""lamin A/C-like 1"""	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.1786delG	1.37:g.156108366delG	ENSP00000357283:p.Asp596fs		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Frame_Shift_Del	DEL	pfam_F,pfam_Lamin_tail_dom,superfamily_Prefoldin	p.D596fs	ENST00000368300.4	37	c.1786	CCDS1129.1	1																																																																																			LMNA	-	NULL	ENSG00000160789		0.682	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMNA	HGNC	protein_coding	OTTHUMT00000039200.2	16	0.00	0	G	NM_170707		156108366	156108366	+1	no_errors	ENST00000368300	ensembl	human	known	69_37n	frame_shift_del	15	31.82	7	DEL	1.000	-
LRRC3B	116135	genome.wustl.edu	37	3	26751433	26751433	+	Silent	SNP	G	G	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr3:26751433G>A	ENST00000396641.2	+	2	862	c.270G>A	c.(268-270)ctG>ctA	p.L90L	AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000417744.1_Silent_p.L90L|LRRC3B_ENST00000456208.2_Silent_p.L90L	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	90						integral component of membrane (GO:0016021)		p.L90L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TCCATCAACTGAGAGTTCTCA	0.418																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											69.0	66.0	67.0					3																	26751433		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.270G>A	3.37:g.26751433G>A			Q5M8T0	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L90	ENST00000396641.2	37	c.270	CCDS2644.1	3																																																																																			LRRC3B	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000179796		0.418	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC3B	HGNC	protein_coding	OTTHUMT00000252997.2	248	0.00	0	G	NM_052953		26751433	26751433	+1	no_errors	ENST00000396641	ensembl	human	known	69_37n	silent	207	10.39	24	SNP	0.997	A
LRRTM2	26045	genome.wustl.edu	37	5	138210089	138210089	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr5:138210089G>A	ENST00000274711.6	-	2	539	c.161C>T	c.(160-162)tCa>tTa	p.S54L	CTNNA1_ENST00000520400.1_Intron|LRRTM2_ENST00000518785.1_Intron|LRRTM2_ENST00000523537.1_Intron|CTNNA1_ENST00000540387.1_5'Flank|CTNNA1_ENST00000518825.1_Intron|CTNNA1_ENST00000302763.7_Intron|CTNNA1_ENST00000355078.5_Intron|LRRTM2_ENST00000521094.2_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	54	LRRNT.				long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|synapse organization (GO:0050808)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.S54L(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTTTGGCACTGAGTGGAAGCC	0.532																																						dbGAP											1	Substitution - Missense(1)	breast(1)											51.0	50.0	50.0					5																	138210089		2004	4163	6167	-	-	-	SO:0001583	missense	0			AB007876	CCDS47272.1	5q31	2008-02-05				ENSG00000146006			19409	protein-coding gene	gene with protein product		610868				12676565	Standard	NM_015564		Approved	KIAA0416	uc011cyz.1	O43300		ENST00000274711.6:c.161C>T	5.37:g.138210089G>A	ENSP00000274711:p.Ser54Leu		A0AVL3|A8K4U9|B7ZLN8|Q7L770	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S54L	ENST00000274711.6	37	c.161	CCDS47272.1	5	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923955	0.34002	.	.	ENSG00000146006	ENST00000274711	T	0.04917	3.53	5.14	5.14	0.70334	Leucine-rich repeat-containing N-terminal (1);	0.080135	0.51477	D	0.000086	T	0.11067	0.0270	M	0.81179	2.53	0.52099	D	0.99994	B	0.29716	0.255	B	0.19148	0.024	T	0.01259	-1.1403	10	0.51188	T	0.08	.	14.0574	0.64779	0.0:0.1509:0.8491:0.0	.	54	O43300	LRRT2_HUMAN	L	54	ENSP00000274711:S54L	ENSP00000274711:S54L	S	-	2	0	LRRTM2	138237988	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.342000	0.65970	2.675000	0.91044	0.655000	0.94253	TCA	LRRTM2	-	NULL	ENSG00000146006		0.532	LRRTM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM2	HGNC	protein_coding	OTTHUMT00000374043.2	118	0.00	0	G			138210089	138210089	-1	no_errors	ENST00000274711	ensembl	human	known	69_37n	missense	100	22.48	29	SNP	1.000	A
LTBP2	4053	genome.wustl.edu	37	14	74995673	74995673	+	Silent	SNP	G	G	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr14:74995673G>A	ENST00000261978.4	-	11	2526	c.2140C>T	c.(2140-2142)Ctg>Ttg	p.L714L	LTBP2_ENST00000556690.1_Silent_p.L714L	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	714	TB 2.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.L714L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTGCCAGGCAGAGGGCATTTC	0.612																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											32.0	26.0	28.0					14																	74995673		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2140C>T	14.37:g.74995673G>A			Q99907|Q9NS51	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.L714	ENST00000261978.4	37	c.2140	CCDS9831.1	14																																																																																			LTBP2	-	pfam_TB_dom,superfamily_TB_dom	ENSG00000119681		0.612	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP2	HGNC	protein_coding	OTTHUMT00000413595.1	15	0.00	0	G	NM_000428		74995673	74995673	-1	no_errors	ENST00000261978	ensembl	human	known	69_37n	silent	20	25.93	7	SNP	0.998	A
MACF1	23499	genome.wustl.edu	37	1	39798343	39798343	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr1:39798343C>G	ENST00000372915.3	+	36	6185	c.6098C>G	c.(6097-6099)tCa>tGa	p.S2033*	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Nonsense_Mutation_p.S468*|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000564288.1_Nonsense_Mutation_p.S2028*|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Nonsense_Mutation_p.S2065*|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2033					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.S468*(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGAAAATCTCAGGAACTTTC	0.428																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											87.0	92.0	90.0					1																	39798343		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6098C>G	1.37:g.39798343C>G	ENSP00000362006:p.Ser2033*		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.S2065*	ENST00000372915.3	37	c.6194		1	.	.	.	.	.	.	.	.	.	.	C	32	5.127915	0.94473	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	.	.	.	5.88	4.97	0.65823	.	0.513281	0.18056	N	0.153109	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	9.0756	0.36519	0.0:0.8358:0.0:0.1642	.	.	.	.	X	2033;468	.	ENSP00000289893:S468X	S	+	2	0	MACF1	39570930	0.000000	0.05858	0.190000	0.23270	0.494000	0.33585	0.811000	0.27198	1.503000	0.48686	0.555000	0.69702	TCA	MACF1	-	superfamily_RNaseH-like_dom	ENSG00000127603		0.428	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	274	0.00	0	C	NM_033044		39798343	39798343	+1	no_errors	ENST00000567887	ensembl	human	putative	69_37n	nonsense	64	22.89	19	SNP	0.444	G
MAST4	375449	genome.wustl.edu	37	5	66438062	66438062	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr5:66438062G>A	ENST00000403625.2	+	20	2909	c.2614G>A	c.(2614-2616)Gat>Aat	p.D872N	MAST4_ENST00000405643.1_Missense_Mutation_p.D693N|MAST4_ENST00000261569.7_Missense_Mutation_p.D678N|MAST4_ENST00000403666.1_Missense_Mutation_p.D683N|MAST4_ENST00000404260.3_Missense_Mutation_p.D875N	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	875	AGC-kinase C-terminal.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.D875N(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AAGTTATTTTGATAGTATGTG	0.353																																						dbGAP											1	Substitution - Missense(1)	breast(1)											97.0	93.0	94.0					5																	66438062		1861	4101	5962	-	-	-	SO:0001583	missense	0			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.2614G>A	5.37:g.66438062G>A	ENSP00000385727:p.Asp872Asn		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.D875N	ENST00000403625.2	37	c.2623	CCDS54861.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.588353	0.96590	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77	5.42	5.42	0.78866	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.93197	3.39	0.80722	D	1	P;D;D;P	0.89917	0.598;1.0;1.0;0.846	B;D;D;P	0.83275	0.436;0.987;0.996;0.754	T	0.74057	-0.3787	10	0.87932	D	0	-23.3435	19.5705	0.95413	0.0:0.0:1.0:0.0	.	693;875;678;683	E7EWQ5;O15021;O15021-2;O15021-3	.;MAST4_HUMAN;.;.	N	875;872;683;693;693;678;678	ENSP00000385048:D875N;ENSP00000385727:D872N;ENSP00000384313:D683N;ENSP00000384099:D693N;ENSP00000261569:D678N	ENSP00000261569:D678N	D	+	1	0	MAST4	66473818	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.813000	0.99286	2.715000	0.92844	0.655000	0.94253	GAT	MAST4	-	superfamily_Kinase-like_dom	ENSG00000069020		0.353	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2	171	0.00	0	G			66438062	66438062	+1	no_errors	ENST00000404260	ensembl	human	known	69_37n	missense	111	12.60	16	SNP	1.000	A
MTMR4	9110	genome.wustl.edu	37	17	56573225	56573225	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr17:56573225C>A	ENST00000323456.5	-	16	2402	c.2278G>T	c.(2278-2280)Gct>Tct	p.A760S	MTMR4_ENST00000579925.1_Missense_Mutation_p.A703S	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	760					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.A760S(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCACTGACAGCTTCTGTTTCA	0.507																																						dbGAP											1	Substitution - Missense(1)	breast(1)											183.0	183.0	183.0					17																	56573225		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.2278G>T	17.37:g.56573225C>A	ENSP00000325285:p.Ala760Ser		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-specificity_Pase	p.A760S	ENST00000323456.5	37	c.2278	CCDS11608.1	17	.	.	.	.	.	.	.	.	.	.	C	0.476	-0.881995	0.02530	.	.	ENSG00000108389	ENST00000323456	D	0.93076	-3.16	4.81	0.222	0.15288	.	1.603280	0.02895	N	0.134686	D	0.83908	0.5356	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.74777	-0.3550	10	0.07030	T	0.85	.	4.2021	0.10471	0.2753:0.4793:0.0:0.2454	.	760	Q9NYA4	MTMR4_HUMAN	S	760	ENSP00000325285:A760S	ENSP00000325285:A760S	A	-	1	0	MTMR4	53928224	0.000000	0.05858	0.062000	0.19696	0.978000	0.69477	-0.477000	0.06583	0.309000	0.22966	0.655000	0.94253	GCT	MTMR4	-	NULL	ENSG00000108389		0.507	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR4	HGNC	protein_coding	OTTHUMT00000444721.1	79	0.00	0	C	NM_004687		56573225	56573225	-1	no_errors	ENST00000323456	ensembl	human	known	69_37n	missense	69	24.18	22	SNP	0.002	A
MYH6	4624	genome.wustl.edu	37	14	23871908	23871908	+	Missense_Mutation	SNP	C	C	G	rs572757741		TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr14:23871908C>G	ENST00000356287.3	-	10	1029	c.1000G>C	c.(1000-1002)Gat>Cat	p.D334H	MYH6_ENST00000405093.3_Missense_Mutation_p.D334H			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	334	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCACTCACATCGGTGGCCATG	0.632																																						dbGAP											0													51.0	44.0	46.0					14																	23871908		2203	4300	6503	-	-	-	SO:0001583	missense	0			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1000G>C	14.37:g.23871908C>G	ENSP00000348634:p.Asp334His		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D334H	ENST00000356287.3	37	c.1000	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	.	18.57	3.652275	0.67472	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.87729	-2.29;-2.29	4.2	4.2	0.49525	Myosin head, motor domain (2);	.	.	.	.	D	0.95137	0.8424	H	0.94542	3.55	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.96587	0.9435	9	0.87932	D	0	.	15.4728	0.75453	0.0:1.0:0.0:0.0	.	334;334	D9YZU2;P13533	.;MYH6_HUMAN	H	334	ENSP00000386041:D334H;ENSP00000348634:D334H	ENSP00000348634:D334H	D	-	1	0	MYH6	22941748	1.000000	0.71417	0.921000	0.36526	0.353000	0.29299	7.490000	0.81461	2.070000	0.61991	0.491000	0.48974	GAT	MYH6	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000197616		0.632	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	35	0.00	0	C			23871908	23871908	-1	no_errors	ENST00000356287	ensembl	human	known	69_37n	missense	29	14.71	5	SNP	1.000	G
NDFIP2	54602	genome.wustl.edu	37	13	80055541	80055541	+	Missense_Mutation	SNP	C	C	T	rs375938709		TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr13:80055541C>T	ENST00000218652.7	+	1	255	c.203C>T	c.(202-204)aCg>aTg	p.T68M	NDFIP2-AS1_ENST00000457171.1_RNA	NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	68					negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of transporter activity (GO:0032410)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.T68M(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		GCGGCGACGACGTCGTCGACG	0.716																																						dbGAP											1	Substitution - Missense(1)	breast(1)											9.0	13.0	11.0					13																	80055541		2117	4118	6235	-	-	-	SO:0001583	missense	0			AB032991	CCDS31998.1	13q22.1	2011-05-18			ENSG00000102471	ENSG00000102471			18537	protein-coding gene	gene with protein product		610041				10574461, 12050153	Standard	NM_019080		Approved	KIAA1165, N4wbp5a	uc001vlf.3	Q9NV92	OTTHUMG00000017136	ENST00000218652.7:c.203C>T	13.37:g.80055541C>T	ENSP00000218652:p.Thr68Met		Q7Z2H3|Q7Z428|Q8TAR3|Q9ULQ5	Missense_Mutation	SNP	pfam_NEDD4/BSD2	p.T68M	ENST00000218652.7	37	c.203	CCDS31998.1	13	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506948	0.44558	.	.	ENSG00000102471	ENST00000218652	T	0.35236	1.32	4.5	3.66	0.41972	.	0.873341	0.09711	N	0.765681	T	0.20659	0.0497	N	0.14661	0.345	0.09310	N	1	B	0.24258	0.1	B	0.14023	0.01	T	0.15206	-1.0445	9	.	.	.	-15.0969	8.6249	0.33883	0.0:0.8979:0.0:0.1021	.	68	Q9NV92	NFIP2_HUMAN	M	68	ENSP00000218652:T68M	.	T	+	2	0	NDFIP2	78953542	0.993000	0.37304	0.044000	0.18714	0.400000	0.30750	2.876000	0.48498	1.503000	0.48686	0.561000	0.74099	ACG	NDFIP2	-	NULL	ENSG00000102471		0.716	NDFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDFIP2	HGNC	protein_coding	OTTHUMT00000045380.2	40	0.00	0	C			80055541	80055541	+1	no_errors	ENST00000218652	ensembl	human	known	69_37n	missense	27	40.00	18	SNP	0.045	T
NEUROD6	63974	genome.wustl.edu	37	7	31378659	31378659	+	Missense_Mutation	SNP	C	C	G	rs373635172		TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr7:31378659C>G	ENST00000297142.3	-	2	546	c.224G>C	c.(223-225)aGa>aCa	p.R75T		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	75					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R75T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						ACCCCTCCTTCTAGGCAACCC	0.502																																						dbGAP											1	Substitution - Missense(1)	breast(1)											256.0	245.0	249.0					7																	31378659		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.224G>C	7.37:g.31378659C>G	ENSP00000297142:p.Arg75Thr		Q548T9|Q9H3H6	Missense_Mutation	SNP	pfam_Neurogenic_DUF,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pirsf_TF_bHLH_NeuroD,pfscan_HLH_DNA-bd	p.R75T	ENST00000297142.3	37	c.224	CCDS5434.1	7	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768062	0.31320	.	.	ENSG00000164600	ENST00000297142	D	0.95412	-3.7	5.52	5.52	0.82312	.	0.045228	0.85682	D	0.000000	D	0.92750	0.7695	L	0.40543	1.245	0.50313	D	0.999861	P	0.47762	0.9	B	0.39068	0.289	D	0.92573	0.6068	10	0.41790	T	0.15	-11.2795	19.518	0.95171	0.0:1.0:0.0:0.0	.	75	Q96NK8	NDF6_HUMAN	T	75	ENSP00000297142:R75T	ENSP00000297142:R75T	R	-	2	0	NEUROD6	31345184	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.760000	0.62235	2.622000	0.88805	0.644000	0.83932	AGA	NEUROD6	-	pirsf_TF_bHLH_NeuroD	ENSG00000164600		0.502	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD6	HGNC	protein_coding	OTTHUMT00000215050.1	1100	0.00	0	C	NM_022728		31378659	31378659	-1	no_errors	ENST00000297142	ensembl	human	known	69_37n	missense	700	11.60	92	SNP	1.000	G
NUDC	10726	genome.wustl.edu	37	1	27272109	27272110	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr1:27272109_27272110insG	ENST00000321265.5	+	8	999_1000	c.876_877insG	c.(877-879)gacfs	p.D293fs	NUDC_ENST00000484772.1_3'UTR	NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	293					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		AGATGATGTATGACCAGCGACA	0.535																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273			8045	protein-coding gene	gene with protein product		610325	"""nuclear distribution gene C homolog (A. nidulans)"", ""nuclear distribution C homolog (A. nidulans)"""				Standard	NM_006600		Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.877dupG	1.37:g.27272110_27272110dupG	ENSP00000319664:p.Asp293fs		Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	Frame_Shift_Ins	INS	pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.D292fs	ENST00000321265.5	37	c.876_877	CCDS292.1	1																																																																																			NUDC	-	superfamily_HSP20-like_chaperone	ENSG00000090273		0.535	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDC	HGNC	protein_coding	OTTHUMT00000012172.2	61	0.00	0	-			27272109	27272110	+1	no_errors	ENST00000321265	ensembl	human	known	69_37n	frame_shift_ins	25	34.21	13	INS	0.999:1.000	G
NFASC	23114	genome.wustl.edu	37	1	204923466	204923466	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr1:204923466C>G	ENST00000401399.1	+	5	565	c.366C>G	c.(364-366)aaC>aaG	p.N122K	NFASC_ENST00000404907.1_Missense_Mutation_p.N116K|NFASC_ENST00000367169.4_Missense_Mutation_p.N122K|NFASC_ENST00000539706.1_Missense_Mutation_p.N116K|NFASC_ENST00000338586.6_Missense_Mutation_p.N122K|NFASC_ENST00000513543.1_Missense_Mutation_p.N116K|NFASC_ENST00000367171.4_Missense_Mutation_p.N122K|NFASC_ENST00000338515.6_Missense_Mutation_p.N122K|NFASC_ENST00000339876.6_Missense_Mutation_p.N122K|NFASC_ENST00000403080.1_Missense_Mutation_p.N122K|NFASC_ENST00000404076.1_Missense_Mutation_p.N116K|NFASC_ENST00000367170.4_Missense_Mutation_p.N122K|NFASC_ENST00000360049.4_Missense_Mutation_p.N116K|NFASC_ENST00000367172.4_Missense_Mutation_p.N122K			O94856	NFASC_HUMAN	neurofascin	122	Ig-like C2-type 1.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.N122K(2)|p.N116K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCGCCCGCAACAAATTTGGCA	0.597																																						dbGAP											3	Substitution - Missense(3)	breast(3)											46.0	50.0	49.0					1																	204923466		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.366C>G	1.37:g.204923466C>G	ENSP00000385637:p.Asn122Lys		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.N122K	ENST00000401399.1	37	c.366	CCDS53460.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.497514|4.497514	0.85069|0.85069	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000446412;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000505079;ENST00000404907;ENST00000513543;ENST00000430393|ENST00000367173	T;T;T;T;T;T;T;T;T;T;T;T;T;D;T;T;T|.	0.98249|.	0.43;-1.46;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;-4.82;0.43;0.43;0.43|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.64402|.	D|.	0.000015|.	D|D	0.89691|0.89691	0.6788|0.6788	H|H	0.99746|0.99746	4.745|4.745	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D|D	0.93312|0.93312	0.6685|0.6685	10|5	0.87932|.	D|.	0|.	.|.	13.078|13.078	0.59097|0.59097	0.0:0.922:0.0:0.078|0.0:0.922:0.0:0.078	.|.	116;116;218;122;116;122|.	O94856-11;O94856-8;B4DRH7;O94856-9;O94856-3;O94856-2|.	.;.;.;.;.;.|.	K|R	122;122;122;122;122;122;116;116;116;122;122;122;116;122;122;116;116;92|92	ENSP00000356140:N122K;ENSP00000356139:N122K;ENSP00000356138:N122K;ENSP00000342128:N122K;ENSP00000344786:N122K;ENSP00000343509:N122K;ENSP00000438614:N116K;ENSP00000353154:N116K;ENSP00000356137:N122K;ENSP00000412161:N122K;ENSP00000384875:N122K;ENSP00000385676:N116K;ENSP00000385637:N122K;ENSP00000427586:N122K;ENSP00000384061:N116K;ENSP00000425908:N116K;ENSP00000415031:N92K|.	ENSP00000295776:N116K|.	N|T	+|+	3|2	2|0	NFASC|NFASC	203190089|203190089	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	1.626000|1.626000	0.37039|0.37039	2.516000|2.516000	0.84829|0.84829	0.655000|0.655000	0.94253|0.94253	AAC|ACA	NFASC	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000163531		0.597	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	106	0.00	0	C	NM_001005388		204923466	204923466	+1	no_errors	ENST00000367172	ensembl	human	known	69_37n	missense	134	19.76	33	SNP	1.000	G
NUMB	8650	genome.wustl.edu	37	14	73743785	73743785	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr14:73743785G>A	ENST00000355058.3	-	13	1735	c.1457C>T	c.(1456-1458)gCa>gTa	p.A486V	NUMB_ENST00000356296.4_Missense_Mutation_p.A438V|RP4-647C14.3_ENST00000556578.1_RNA|NUMB_ENST00000554521.2_Missense_Mutation_p.A280V|NUMB_ENST00000556772.1_Missense_Mutation_p.A342V|NUMB_ENST00000557597.1_Missense_Mutation_p.A475V|NUMB_ENST00000555238.1_Missense_Mutation_p.A486V|NUMB_ENST00000544991.3_Missense_Mutation_p.A291V|NUMB_ENST00000359560.3_Missense_Mutation_p.A475V|NUMB_ENST00000559312.1_Missense_Mutation_p.A291V|NUMB_ENST00000535282.1_Missense_Mutation_p.A475V|NUMB_ENST00000555738.2_Missense_Mutation_p.A329V|NUMB_ENST00000555394.1_Missense_Mutation_p.A438V|NUMB_ENST00000560335.1_Missense_Mutation_p.A340V|NUMB_ENST00000554546.1_Missense_Mutation_p.A427V|NUMB_ENST00000454166.4_Missense_Mutation_p.A340V			P49757	NUMB_HUMAN	numb homolog (Drosophila)	486					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A486V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		GGTGAGGAATGCATTCCCTTG	0.612																																						dbGAP											1	Substitution - Missense(1)	breast(1)											86.0	77.0	80.0					14																	73743785		2203	4300	6503	-	-	-	SO:0001583	missense	0			L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"""numb (Drosophila) homolog"", ""chromosome 14 open reading frame 41"""	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.1457C>T	14.37:g.73743785G>A	ENSP00000347169:p.Ala486Val		B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Missense_Mutation	SNP	pfam_Numb_domain,pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pirsf_Numb/numb-like,pfscan_PTyr_interaction_dom	p.A486V	ENST00000355058.3	37	c.1457	CCDS32116.1	14	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913623	0.52439	.	.	ENSG00000133961	ENST00000554546;ENST00000356296;ENST00000557597;ENST00000555238;ENST00000556772;ENST00000355058;ENST00000359560;ENST00000555394;ENST00000544991;ENST00000454166;ENST00000555738;ENST00000554521;ENST00000535282	T;T;T;T;T;T;T;T;T;T;T;T;T	0.57436	0.43;0.43;0.88;0.88;1.45;0.88;0.88;0.43;0.44;0.41;0.4;0.45;0.88	5.65	4.76	0.60689	.	0.250740	0.40222	N	0.001147	T	0.40932	0.1137	N	0.11560	0.145	0.44247	D	0.997099	P;B;B;B;B;P;P;P;B	0.45011	0.848;0.104;0.104;0.104;0.104;0.743;0.743;0.613;0.027	B;B;B;B;B;P;P;P;B	0.46419	0.437;0.035;0.058;0.035;0.058;0.447;0.447;0.516;0.027	T	0.39251	-0.9623	10	0.36615	T	0.2	-3.3175	14.8285	0.70130	0.0684:0.0:0.9316:0.0	.	184;329;340;280;291;427;438;475;486	B1P2N9;B1P2N6;B1P2N5;B1P2N8;B1P2N7;P49757-4;P49757-2;P49757-3;P49757	.;.;.;.;.;.;.;.;NUMB_HUMAN	V	427;438;475;486;342;486;475;438;291;340;329;280;475	ENSP00000452416:A427V;ENSP00000348644:A438V;ENSP00000451117:A475V;ENSP00000451300:A486V;ENSP00000451513:A342V;ENSP00000347169:A486V;ENSP00000352563:A475V;ENSP00000451625:A438V;ENSP00000446001:A291V;ENSP00000394025:A340V;ENSP00000452069:A329V;ENSP00000450817:A280V;ENSP00000441258:A475V	ENSP00000347169:A486V	A	-	2	0	NUMB	72813538	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.715000	0.61909	1.625000	0.50366	0.655000	0.94253	GCA	NUMB	-	pirsf_Numb/numb-like	ENSG00000133961		0.612	NUMB-201	KNOWN	basic|CCDS	protein_coding	NUMB	HGNC	protein_coding	OTTHUMT00000414416.1	101	0.00	0	G			73743785	73743785	-1	no_errors	ENST00000355058	ensembl	human	known	69_37n	missense	131	10.88	16	SNP	1.000	A
OBSL1	23363	genome.wustl.edu	37	2	220432006	220432006	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr2:220432006delG	ENST00000404537.1	-	4	1882	c.1826delC	c.(1825-1827)tctfs	p.S609fs	OBSL1_ENST00000265318.4_Frame_Shift_Del_p.S609fs|OBSL1_ENST00000289656.3_Frame_Shift_Del_p.S196fs|OBSL1_ENST00000373876.1_Frame_Shift_Del_p.S609fs|OBSL1_ENST00000373873.4_Frame_Shift_Del_p.S609fs|OBSL1_ENST00000603926.1_Frame_Shift_Del_p.S609fs	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	609	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)	p.S609fs*64(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AAGGTGAGCAGAACCGTGGAA	0.637																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)											39.0	50.0	46.0					2																	220432006		2187	4273	6460	-	-	-	SO:0001589	frameshift_variant	0			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1826delC	2.37:g.220432006delG	ENSP00000385636:p.Ser609fs		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S609fs	ENST00000404537.1	37	c.1826	CCDS46520.1	2																																																																																			OBSL1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000124006		0.637	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	39	0.00	0	G			220432006	220432006	-1	no_errors	ENST00000404537	ensembl	human	known	69_37n	frame_shift_del	42	16.00	8	DEL	0.619	-
ODF2	4957	genome.wustl.edu	37	9	131256860	131256860	+	Silent	SNP	G	G	A	rs376502871		TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr9:131256860G>A	ENST00000434106.3	+	17	2187	c.1824G>A	c.(1822-1824)gcG>gcA	p.A608A	ODF2_ENST00000372807.5_Silent_p.A603A|ODF2_ENST00000546203.1_Silent_p.A589A|ODF2_ENST00000444119.2_Silent_p.A584A|ODF2_ENST00000604420.1_Silent_p.A608A|ODF2_ENST00000351030.3_Silent_p.A603A|ODF2_ENST00000372814.3_Silent_p.A652A|ODF2_ENST00000393527.3_Silent_p.A584A|ODF2_ENST00000448249.3_Silent_p.A527A|ODF2_ENST00000372791.3_Silent_p.A589A|ODF2_ENST00000393533.2_Silent_p.A608A	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	608					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.A584A(3)|p.A652A(2)|p.A608A(2)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						TCACGGAGGCGAAGCTGGCTG	0.577																																						dbGAP											7	Substitution - coding silent(7)	breast(6)|upper_aerodigestive_tract(1)											71.0	62.0	65.0					9																	131256860		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1824G>A	9.37:g.131256860G>A			B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	NULL	p.A608	ENST00000434106.3	37	c.1824	CCDS56588.1	9																																																																																			ODF2	-	NULL	ENSG00000136811		0.577	ODF2-011	KNOWN	basic|CCDS	protein_coding	ODF2	HGNC	protein_coding	OTTHUMT00000054449.3	93	0.00	0	G			131256860	131256860	+1	no_errors	ENST00000372796	ensembl	human	known	69_37n	silent	35	36.36	20	SNP	0.657	A
OPA3	80207	genome.wustl.edu	37	19	46057051	46057051	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr19:46057051delG	ENST00000263275.4	-	2	315	c.261delC	c.(259-261)gccfs	p.A87fs	OPA3_ENST00000544371.1_Frame_Shift_Del_p.A34fs|OPA3_ENST00000323060.3_Intron	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	87					growth (GO:0040007)|mitochondrion morphogenesis (GO:0070584)|neuromuscular process (GO:0050905)|regulation of lipid metabolic process (GO:0019216)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	mitochondrion (GO:0005739)				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		TGAAGATGGTGGCTTCGCCCA	0.672																																						dbGAP											0													17.0	20.0	19.0					19																	46057051		2202	4297	6499	-	-	-	SO:0001589	frameshift_variant	0			AK025840	CCDS12668.1, CCDS33052.1	19q13.2-q13.3	2014-01-28				ENSG00000125741			8142	protein-coding gene	gene with protein product		606580				9097959, 11668429	Standard	NM_001017989		Approved	FLJ22187, MGA3	uc002pcj.4	Q9H6K4		ENST00000263275.4:c.261delC	19.37:g.46057051delG	ENSP00000263275:p.Ala87fs		Q6P384|Q8N784	Frame_Shift_Del	DEL	pfam_OPA3-like	p.T88fs	ENST00000263275.4	37	c.261	CCDS12668.1	19																																																																																			OPA3	-	pfam_OPA3-like	ENSG00000125741		0.672	OPA3-002	KNOWN	basic|CCDS	protein_coding	OPA3	HGNC	protein_coding	OTTHUMT00000459601.1	15	0.00	0	G			46057051	46057051	-1	no_errors	ENST00000263275	ensembl	human	known	69_37n	frame_shift_del	23	42.86	18	DEL	1.000	-
PCDHB10	56126	genome.wustl.edu	37	5	140573243	140573243	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr5:140573243G>T	ENST00000239446.4	+	1	1302	c.1118G>T	c.(1117-1119)aGa>aTa	p.R373I		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	373	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R373I(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTAATGACAGAGACTCTGGA	0.398																																						dbGAP											1	Substitution - Missense(1)	breast(1)											60.0	63.0	62.0					5																	140573243		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1118G>T	5.37:g.140573243G>T	ENSP00000239446:p.Arg373Ile		Q96T99	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R373I	ENST00000239446.4	37	c.1118	CCDS4252.1	5	.	.	.	.	.	.	.	.	.	.	G	3.496	-0.102856	0.06967	.	.	ENSG00000120324	ENST00000239446	T	0.01495	4.83	3.23	2.29	0.28610	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02807	0.0084	M	0.67569	2.06	0.21105	N	0.999788	B	0.09022	0.002	B	0.15870	0.014	T	0.34950	-0.9808	9	0.51188	T	0.08	.	6.2226	0.20689	0.3561:0.0:0.6439:0.0	.	373	Q9UN67	PCDBA_HUMAN	I	373	ENSP00000239446:R373I	ENSP00000239446:R373I	R	+	2	0	PCDHB10	140553427	0.000000	0.05858	0.929000	0.37066	0.264000	0.26372	-1.845000	0.01677	0.630000	0.30394	0.556000	0.70494	AGA	PCDHB10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120324		0.398	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB10	HGNC	protein_coding	OTTHUMT00000251821.1	93	0.00	0	G	NM_018930		140573243	140573243	+1	no_errors	ENST00000239446	ensembl	human	known	69_37n	missense	101	12.17	14	SNP	0.150	T
PCLO	27445	genome.wustl.edu	37	7	82595715	82595715	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr7:82595715G>A	ENST00000333891.9	-	4	3726	c.3389C>T	c.(3388-3390)tCa>tTa	p.S1130L	PCLO_ENST00000423517.2_Missense_Mutation_p.S1130L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S1130L(2)|p.S1069L(1)		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						TTTGGGTCCTGATGGTGCAGG	0.428																																						dbGAP											3	Substitution - Missense(3)	breast(3)											121.0	119.0	120.0					7																	82595715		2031	4197	6228	-	-	-	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.3389C>T	7.37:g.82595715G>A	ENSP00000334319:p.Ser1130Leu			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.S1130L	ENST00000333891.9	37	c.3389	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	5.637	0.302205	0.10678	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18016	2.24;2.25	5.59	3.6	0.41247	.	.	.	.	.	T	0.12263	0.0298	L	0.27053	0.805	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.23655	-1.0182	9	0.87932	D	0	.	7.0155	0.24885	0.1525:0.0:0.7117:0.1358	.	1130;1130	Q9Y6V0-5;Q9Y6V0-6	.;.	L	1069;1130;1130	ENSP00000334319:S1130L;ENSP00000388393:S1130L	ENSP00000334319:S1130L	S	-	2	0	PCLO	82433651	0.137000	0.22531	0.027000	0.17364	0.026000	0.11368	2.373000	0.44266	0.690000	0.31570	0.655000	0.94253	TCA	PCLO	-	NULL	ENSG00000186472		0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	249	0.40	1	G	NM_014510		82595715	82595715	-1	no_errors	ENST00000333891	ensembl	human	known	69_37n	missense	109	16.15	21	SNP	0.005	A
PI4KA	5297	genome.wustl.edu	37	22	21159370	21159370	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr22:21159370G>C	ENST00000572273.1	-	11	1308	c.1078C>G	c.(1078-1080)Cta>Gta	p.L360V	PI4KA_ENST00000255882.6_Missense_Mutation_p.L418V			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	360					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.L360V(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GCGTCATGTAGAATCTTCTGG	0.547																																					GBM(136;1332 1831 3115 23601 50806)	dbGAP											2	Substitution - Missense(2)	breast(2)											101.0	90.0	94.0					22																	21159370		2203	4300	6503	-	-	-	SO:0001583	missense	0			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.1078C>G	22.37:g.21159370G>C	ENSP00000458238:p.Leu360Val		Q7Z625|Q9UPG2	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.L418V	ENST00000572273.1	37	c.1252		22	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329363	0.81690	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.92	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	M	0.62723	1.935	0.80722	D	1	B;P	0.41597	0.335;0.756	B;B	0.38842	0.134;0.283	T	0.54139	-0.8338	9	0.30854	T	0.27	-15.0041	14.5222	0.67859	0.0697:0.0:0.9303:0.0	.	418;360	D3DX33;P42356	.;PI4KA_HUMAN	V	360	.	ENSP00000255882:L360V	L	-	1	2	PI4KA	19489370	1.000000	0.71417	0.938000	0.37757	0.747000	0.42532	7.960000	0.87893	2.804000	0.96469	0.655000	0.94253	CTA	PI4KA	-	superfamily_ARM-type_fold	ENSG00000241973		0.547	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		67	0.00	0	G	NM_058004		21159370	21159370	-1	no_errors	ENST00000255882	ensembl	human	known	69_37n	missense	27	17.65	6	SNP	1.000	C
PIWIL4	143689	genome.wustl.edu	37	11	94318660	94318660	+	Missense_Mutation	SNP	C	C	T	rs201395825		TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr11:94318660C>T	ENST00000299001.6	+	6	896	c.685C>T	c.(685-687)Cct>Tct	p.P229S	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	229					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTTCTATAATCCTTCAGAGCC	0.323																																						dbGAP											0													123.0	130.0	128.0					11																	94318660		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.685C>T	11.37:g.94318660C>T	ENSP00000299001:p.Pro229Ser		B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.P229S	ENST00000299001.6	37	c.685	CCDS31656.1	11	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576781	0.65878	.	.	ENSG00000134627	ENST00000299001	T	0.12984	2.63	4.87	4.87	0.63330	Argonaute/Dicer protein, PAZ (1);	0.000000	0.64402	D	0.000011	T	0.38081	0.1027	M	0.78285	2.405	0.80722	D	1	D	0.71674	0.998	D	0.65684	0.937	T	0.20538	-1.0272	10	0.59425	D	0.04	-16.5556	16.9334	0.86197	0.0:1.0:0.0:0.0	.	229	Q7Z3Z4	PIWL4_HUMAN	S	229	ENSP00000299001:P229S	ENSP00000299001:P229S	P	+	1	0	PIWIL4	93958308	1.000000	0.71417	0.984000	0.44739	0.991000	0.79684	4.547000	0.60712	2.533000	0.85409	0.561000	0.74099	CCT	PIWIL4	-	superfamily_PAZ	ENSG00000134627		0.323	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL4	HGNC	protein_coding	OTTHUMT00000396388.1	605	0.00	0	C	NM_152431		94318660	94318660	+1	no_errors	ENST00000299001	ensembl	human	known	69_37n	missense	157	15.59	29	SNP	0.999	T
PRKDC	5591	genome.wustl.edu	37	8	48691190	48691190	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr8:48691190C>T	ENST00000314191.2	-	84	11736	c.11680G>A	c.(11680-11682)Gag>Aag	p.E3894K	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E3863K	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3895	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.E3894K(1)|p.E3895K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGGAAAGCCTCAGGGCTTGTA	0.557								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	dbGAP											2	Substitution - Missense(2)	breast(2)											38.0	38.0	38.0					8																	48691190		1971	4144	6115	-	-	-	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.11680G>A	8.37:g.48691190C>T	ENSP00000313420:p.Glu3894Lys		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E3894K	ENST00000314191.2	37	c.11680		8	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137931	0.77775	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.78364	-1.17;-1.17	5.52	4.64	0.57946	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.048059	0.85682	D	0.000000	D	0.89047	0.6604	M	0.86740	2.835	0.80722	D	1	D;P	0.59767	0.986;0.796	D;P	0.67548	0.952;0.739	D	0.91215	0.5002	10	0.87932	D	0	.	16.4984	0.84251	0.0:0.869:0.131:0.0	.	3863;3895	E7EUY0;P78527	.;PRKDC_HUMAN	K	3894;3863	ENSP00000313420:E3894K;ENSP00000345182:E3863K	ENSP00000313420:E3894K	E	-	1	0	PRKDC	48853743	0.998000	0.40836	0.844000	0.33320	0.014000	0.08584	3.752000	0.55172	1.314000	0.45095	-0.150000	0.13652	GAG	PRKDC	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000253729		0.557	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		76	0.00	0	C	NM_001081640		48691190	48691190	-1	no_errors	ENST00000314191	ensembl	human	known	69_37n	missense	27	20.59	7	SNP	1.000	T
PRR14L	253143	genome.wustl.edu	37	22	32111820	32111820	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr22:32111820C>T	ENST00000327423.6	-	4	2194	c.2005G>A	c.(2005-2007)Gac>Aac	p.D669N	PRR14L_ENST00000434485.1_Missense_Mutation_p.D669N|PRR14L_ENST00000461722.1_5'Flank|PRR14L_ENST00000397493.2_Missense_Mutation_p.D669N	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	669								p.D669N(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						AGTAGAGAGTCAGTTGGCAAA	0.403																																						dbGAP											2	Substitution - Missense(2)	breast(2)											191.0	155.0	166.0					22																	32111820		692	1591	2283	-	-	-	SO:0001583	missense	0			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.2005G>A	22.37:g.32111820C>T	ENSP00000331845:p.Asp669Asn		Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	NULL	p.D669N	ENST00000327423.6	37	c.2005	CCDS13900.2	22	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164345	0.38217	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.08720	3.06;3.08;3.06	5.3	-0.767	0.11016	.	0.590344	0.15755	N	0.246212	T	0.05044	0.0135	L	0.29908	0.895	0.09310	N	1	B;B;B	0.20261	0.043;0.009;0.009	B;B;B	0.18871	0.023;0.011;0.011	T	0.40831	-0.9542	9	.	.	.	-0.0534	5.6078	0.17389	0.0:0.5498:0.133:0.3172	.	669;669;669	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	N	669	ENSP00000380630:D669N;ENSP00000331845:D669N;ENSP00000388314:D669N	.	D	-	1	0	PRR14L	30441820	0.006000	0.16342	0.000000	0.03702	0.319000	0.28217	0.214000	0.17541	0.064000	0.16427	0.655000	0.94253	GAC	PRR14L	-	NULL	ENSG00000183530		0.403	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2	184	0.00	0	C	NM_173566		32111820	32111820	-1	no_errors	ENST00000397493	ensembl	human	known	69_37n	missense	122	17.57	26	SNP	0.000	T
PSG4	5672	genome.wustl.edu	37	19	43699378	43699378	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr19:43699378C>G	ENST00000405312.3	-	4	994	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.E160Q	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	253	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)		p.E253Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TCCTTATTCTCTCTGGGGTTT	0.463																																						dbGAP											1	Substitution - Missense(1)	breast(1)											283.0	281.0	281.0					19																	43699378		2202	4295	6497	-	-	-	SO:0001583	missense	0				CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.757G>C	19.37:g.43699378C>G	ENSP00000384770:p.Glu253Gln		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E253Q	ENST00000405312.3	37	c.757	CCDS46093.1	19	.	.	.	.	.	.	.	.	.	.	c	7.388	0.630202	0.14257	.	.	ENSG00000243137	ENST00000405312;ENST00000433626	T;T	0.14516	2.5;2.5	1.61	1.61	0.23674	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44030	0.1274	H	0.96208	3.785	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.24548	-1.0157	9	0.33141	T	0.24	.	6.6292	0.22847	0.0:1.0:0.0:0.0	.	160;253	E7EX79;Q00888	.;PSG4_HUMAN	Q	253;160	ENSP00000384770:E253Q;ENSP00000387864:E160Q	ENSP00000384770:E253Q	E	-	1	0	PSG4	48391218	0.002000	0.14202	0.002000	0.10522	0.001000	0.01503	0.223000	0.17719	0.877000	0.35895	0.524000	0.50904	GAG	PSG4	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000243137		0.463	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG4	HGNC	protein_coding	OTTHUMT00000323073.1	526	0.00	0	C	NM_213633		43699378	43699378	-1	no_errors	ENST00000405312	ensembl	human	known	69_37n	missense	254	13.56	40	SNP	0.005	G
RAPGEF6	51735	genome.wustl.edu	37	5	130841179	130841179	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr5:130841179C>T	ENST00000509018.1	-	10	1184	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E377K|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E42K|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E327K|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E327K|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E327K|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E327K|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E327K	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	327					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)	p.E327K(3)|p.E377K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGACTGATTTCCACAGTGCCG	0.328																																					Melanoma(168;435 1955 13113 13877 23213)	dbGAP											4	Substitution - Missense(4)	breast(4)											74.0	71.0	72.0					5																	130841179		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.979G>A	5.37:g.130841179C>T	ENSP00000421684:p.Glu327Lys		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E327K	ENST00000509018.1	37	c.979	CCDS34225.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.350559	0.95830	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000513227;ENST00000514667	D;D;D;D;D;D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-1.89;-3.02	5.67	5.67	0.87782	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.057225	0.64402	N	0.000002	D	0.96386	0.8821	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.991;0.999;0.999;1.0;0.999;0.993	D;D;D;D;D;D;D	0.97110	0.999;0.984;0.997;0.998;1.0;0.997;0.992	D	0.96470	0.9348	10	0.87932	D	0	.	19.7725	0.96373	0.0:1.0:0.0:0.0	.	327;327;327;42;377;327;327	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	K	327;327;327;327;327;42;327;327;155;377	ENSP00000421684:E327K;ENSP00000309298:E327K;ENSP00000426081:E327K;ENSP00000296859:E327K;ENSP00000426910:E42K;ENSP00000311419:E327K;ENSP00000425389:E327K;ENSP00000424574:E155K;ENSP00000426948:E377K	ENSP00000426948:E377K	E	-	1	0	RAPGEF6;FNIP1	130869078	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.818000	0.86416	2.673000	0.90976	0.467000	0.42956	GAA	RAPGEF6	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000158987		0.328	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF6	HGNC	protein_coding	OTTHUMT00000370059.1	221	0.45	1	C	NM_016340		130841179	130841179	-1	no_errors	ENST00000509018	ensembl	human	known	69_37n	missense	81	26.36	29	SNP	1.000	T
RARS2	57038	genome.wustl.edu	37	6	88299660	88299660	+	Missense_Mutation	SNP	G	G	A	rs201899366	byFrequency	TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr6:88299660G>A	ENST00000369536.5	-	1	61	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C	ORC3_ENST00000257789.4_5'Flank|ORC3_ENST00000392844.3_5'Flank|ORC3_ENST00000546266.1_5'Flank|ORC3_ENST00000417380.2_5'Flank	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	6					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.R6C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ATAGCGCGGCGAAAGCCGCAC	0.672											OREG0031911	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	G|||	2	0.000399361	0.0	0.0014	5008	,	,		12638	0.001		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	breast(1)											26.0	32.0	30.0					6																	88299660		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.16C>T	6.37:g.88299660G>A	ENSP00000358549:p.Arg6Cys	1258	B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-synth_Ia	p.R6C	ENST00000369536.5	37	c.16	CCDS5011.1	6	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.34	3.364729	0.61513	.	.	ENSG00000146282	ENST00000369536	T	0.73897	-0.79	5.11	5.11	0.69529	Arginyl tRNA synthetase, class Ia, N-terminal (2);	0.101495	0.64402	D	0.000003	T	0.70753	0.3260	L	0.55481	1.735	0.80722	D	1	D	0.69078	0.997	P	0.50231	0.635	T	0.75277	-0.3374	10	0.87932	D	0	.	14.2251	0.65853	0.0:0.0:1.0:0.0	.	6	Q5T160	SYRM_HUMAN	C	6	ENSP00000358549:R6C	ENSP00000358549:R6C	R	-	1	0	RARS2	88356379	1.000000	0.71417	0.978000	0.43139	0.031000	0.12232	2.529000	0.45632	2.826000	0.97356	0.655000	0.94253	CGC	RARS2	-	superfamily_Arg-tRNA-synth_N	ENSG00000146282		0.672	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS2	HGNC	protein_coding	OTTHUMT00000041448.1	37	0.00	0	G	NM_020320		88299660	88299660	-1	no_errors	ENST00000369536	ensembl	human	known	69_37n	missense	33	13.16	5	SNP	0.853	A
RHOBTB3	22836	genome.wustl.edu	37	5	95128768	95128768	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr5:95128768G>C	ENST00000379982.3	+	12	2234	c.1726G>C	c.(1726-1728)Gaa>Caa	p.E576Q	GLRX_ENST00000508780.1_Intron|RHOBTB3_ENST00000504179.1_Missense_Mutation_p.E207Q|GLRX_ENST00000507605.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	576	Interaction with Rab9.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)	p.E576Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TTCAGTGGAAGAACGCAGTTT	0.368																																						dbGAP											1	Substitution - Missense(1)	breast(1)											105.0	102.0	103.0					5																	95128768		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.1726G>C	5.37:g.95128768G>C	ENSP00000369318:p.Glu576Gln		A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.E576Q	ENST00000379982.3	37	c.1726	CCDS4077.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.19|18.19	3.569657|3.569657	0.65765|0.65765	.|.	.|.	ENSG00000164292|ENSG00000164292	ENST00000379982;ENST00000504179;ENST00000514198|ENST00000503737	T;T|.	0.74315|.	-0.11;-0.83|.	6.17|6.17	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67832|0.67832	0.2935|0.2935	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	D|.	0.54601|.	0.967|.	P|.	0.52823|.	0.71|.	T|T	0.65890|0.65890	-0.6058|-0.6058	10|5	0.44086|.	T|.	0.13|.	-25.5103|-25.5103	15.5243|15.5243	0.75890|0.75890	0.0665:0.0:0.9335:0.0|0.0665:0.0:0.9335:0.0	.|.	576|.	O94955|.	RHBT3_HUMAN|.	Q|T	576;207;22|78	ENSP00000369318:E576Q;ENSP00000422360:E207Q|.	ENSP00000369318:E576Q|.	E|R	+|+	1|2	0|0	RHOBTB3|RHOBTB3	95154524|95154524	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.608000|0.608000	0.37181|0.37181	7.980000|7.980000	0.88113|0.88113	1.631000|1.631000	0.50456|0.50456	0.655000|0.655000	0.94253|0.94253	GAA|AGA	RHOBTB3	-	NULL	ENSG00000164292		0.368	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOBTB3	HGNC	protein_coding	OTTHUMT00000241658.1	326	0.00	0	G	NM_014899		95128768	95128768	+1	no_errors	ENST00000379982	ensembl	human	known	69_37n	missense	140	17.16	29	SNP	1.000	C
RNF19A	25897	genome.wustl.edu	37	8	101272152	101272152	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr8:101272152T>C	ENST00000519449.1	-	10	2072	c.1756A>G	c.(1756-1758)Aca>Gca	p.T586A	RNF19A_ENST00000341084.2_Missense_Mutation_p.T586A|RNF19A_ENST00000523255.1_5'UTR	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	586					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T586A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TCACTAACTGTTCCCAAGCTG	0.413																																						dbGAP											1	Substitution - Missense(1)	breast(1)											129.0	103.0	112.0					8																	101272152		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.1756A>G	8.37:g.101272152T>C	ENSP00000428968:p.Thr586Ala		A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.T586A	ENST00000519449.1	37	c.1756	CCDS6286.1	8	.	.	.	.	.	.	.	.	.	.	T	15.79	2.938026	0.52972	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.83837	-1.77;-1.77	5.57	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.71929	0.3398	L	0.34521	1.04	0.58432	D	0.999994	P	0.41313	0.745	B	0.37480	0.251	T	0.66236	-0.5974	10	0.18710	T	0.47	.	11.2781	0.49178	0.0:0.0726:0.0:0.9274	.	586	Q9NV58	RN19A_HUMAN	A	586	ENSP00000428968:T586A;ENSP00000342667:T586A	ENSP00000342667:T586A	T	-	1	0	RNF19A	101341328	1.000000	0.71417	0.845000	0.33349	0.996000	0.88848	6.289000	0.72696	0.922000	0.37019	0.533000	0.62120	ACA	RNF19A	-	NULL	ENSG00000034677		0.413	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF19A	HGNC	protein_coding	OTTHUMT00000380004.1	251	0.00	0	T	NM_015435		101272152	101272152	-1	no_errors	ENST00000341084	ensembl	human	known	69_37n	missense	79	42.34	58	SNP	0.998	C
GLOD4	51031	genome.wustl.edu	37	17	685930	685930	+	5'Flank	SNP	G	G	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr17:685930G>A	ENST00000301328.5	-	0	0				GLOD4_ENST00000536578.1_5'Flank|RNMTL1_ENST00000304478.4_Silent_p.L104L|GLOD4_ENST00000301329.6_5'Flank			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4							extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)		p.L104L(1)		endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		ACAGGAGGCTGAGGTGATGTG	0.572																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											25.0	24.0	25.0					17																	685930		2187	4276	6463	-	-	-	SO:0001631	upstream_gene_variant	0			AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38			17.37:g.685930G>A	Exception_encountered		D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Missense_Mutation	SNP	pfam_SpoU_subst-bd,pfam_SpoU_MeTrfase,smart_SpoU_subst-bd	p.E31K	ENST00000301328.5	37	c.91		17	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180638	0.38511	.	.	ENSG00000167699	ENST00000397393	.	.	.	4.97	-1.15	0.09709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.6152	6.1788	0.20459	0.2313:0.2452:0.5235:0.0	.	.	.	.	X	63	.	ENSP00000380548:Q63X	Q	-	1	0	GLOD4	632680	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	1.785000	0.38684	-0.025000	0.13918	-0.175000	0.13238	CAG	RNMTL1	-	NULL	ENSG00000171861		0.572	GLOD4-005	KNOWN	basic	protein_coding	RNMTL1	HGNC	protein_coding	OTTHUMT00000437190.1	25	0.00	0	G	NM_016080		685930	685930	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000571157	ensembl	human	putative	69_37n	missense	14	26.32	5	SNP	0.996	A
SCAF4	57466	genome.wustl.edu	37	21	33067193	33067193	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr21:33067193A>G	ENST00000286835.7	-	10	1551	c.1169T>C	c.(1168-1170)gTg>gCg	p.V390A	SCAF4_ENST00000434667.3_Missense_Mutation_p.V375A|SCAF4_ENST00000399804.1_Missense_Mutation_p.V390A	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	390						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V390A(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AGGCTGCTGCACTGGTGGAGT	0.453																																						dbGAP											1	Substitution - Missense(1)	breast(1)											114.0	105.0	108.0					21																	33067193		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1169T>C	21.37:g.33067193A>G	ENSP00000286835:p.Val390Ala		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.V390A	ENST00000286835.7	37	c.1169	CCDS33537.1	21	.	.	.	.	.	.	.	.	.	.	A	16.97	3.269481	0.59540	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.46063	0.89;0.88;0.9	6.17	5.0	0.66597	.	0.651161	0.15911	N	0.238599	T	0.34978	0.0916	L	0.51422	1.61	0.37395	D	0.912616	B;B;B;B	0.29378	0.012;0.243;0.044;0.012	B;B;B;B	0.27380	0.022;0.079;0.066;0.022	T	0.17745	-1.0359	10	0.06757	T	0.87	-3.1336	13.626	0.62165	0.8708:0.1292:0.0:0.0	.	375;390;390;390	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	A	375;390;390	ENSP00000402377:V375A;ENSP00000286835:V390A;ENSP00000382703:V390A	ENSP00000286835:V390A	V	-	2	0	SCAF4	31989064	0.546000	0.26457	0.944000	0.38274	0.948000	0.59901	2.548000	0.45794	1.116000	0.41820	0.533000	0.62120	GTG	SCAF4	-	NULL	ENSG00000156304		0.453	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	HGNC	protein_coding	OTTHUMT00000192659.1	236	0.42	1	A	XM_047889		33067193	33067193	-1	no_errors	ENST00000286835	ensembl	human	known	69_37n	missense	129	18.35	29	SNP	0.997	G
SEL1L	6400	genome.wustl.edu	37	14	81953845	81953845	+	Silent	SNP	C	C	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr14:81953845C>T	ENST00000336735.4	-	16	1637	c.1521G>A	c.(1519-1521)ttG>ttA	p.L507L		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	507	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.L507L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TAAAATACTTCAAGGCCTGTT	0.398																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											76.0	84.0	82.0					14																	81953845		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.1521G>A	14.37:g.81953845C>T			Q6UWT6|Q9P1T9|Q9UHK7	Silent	SNP	pfam_Sel1-like,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_Sel1-like,pfscan_FN_type2_col-bd	p.L507	ENST00000336735.4	37	c.1521	CCDS9876.1	14																																																																																			SEL1L	-	pfam_Sel1-like,smart_Sel1-like	ENSG00000071537		0.398	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L	HGNC	protein_coding	OTTHUMT00000413325.1	153	0.00	0	C	NM_005065		81953845	81953845	-1	no_errors	ENST00000336735	ensembl	human	known	69_37n	silent	64	12.33	9	SNP	1.000	T
SEMA3B	7869	genome.wustl.edu	37	3	50310760	50310760	+	RNA	SNP	G	G	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr3:50310760G>A	ENST00000418948.1	+	0	930							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.P231P(1)		central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TTTGGATCCCGGAGAGCGAGA	0.627											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - coding silent(1)	breast(1)											38.0	43.0	41.0					3																	50310760		1920	4118	6038	-	-	-			0			U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50310760G>A		968	Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	RNA	SNP	-	NULL	ENST00000418948.1	37	NULL		3																																																																																			SEMA3B	-	-	ENSG00000012171		0.627	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	SEMA3B	HGNC	processed_transcript	OTTHUMT00000346890.2	37	0.00	0	G	NM_001005914		50310760	50310760	+1	no_errors	ENST00000316347	ensembl	human	known	69_37n	rna	32	21.95	9	SNP	0.587	A
SIPA1L1	26037	genome.wustl.edu	37	14	72139081	72139081	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr14:72139081G>A	ENST00000555818.1	+	9	3194	c.2846G>A	c.(2845-2847)tGt>tAt	p.C949Y	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.C949Y|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.C424Y|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.C949Y	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	949					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.C949Y(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCAAAAGGCTGTGAATCGGTG	0.443																																						dbGAP											1	Substitution - Missense(1)	breast(1)											110.0	93.0	99.0					14																	72139081		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.2846G>A	14.37:g.72139081G>A	ENSP00000450832:p.Cys949Tyr		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.C949Y	ENST00000555818.1	37	c.2846	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881684	0.72294	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.77	5.77	0.91146	PDZ/DHR/GLGF (1);	0.040710	0.85682	D	0.000000	T	0.69052	0.3068	M	0.79805	2.47	0.80722	D	1	D;P;D;D;D	0.89917	0.997;0.575;0.992;1.0;0.995	D;B;D;D;D	0.79784	0.974;0.202;0.923;0.993;0.986	T	0.71856	-0.4466	10	0.87932	D	0	-16.6865	19.9915	0.97366	0.0:0.0:1.0:0.0	.	424;949;424;949;949	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	Y	949;949;949;424	ENSP00000370630:C949Y;ENSP00000450832:C949Y;ENSP00000351352:C949Y;ENSP00000440682:C424Y	ENSP00000351352:C949Y	C	+	2	0	SIPA1L1	71208834	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.756000	0.98918	2.723000	0.93209	0.655000	0.94253	TGT	SIPA1L1	-	superfamily_PDZ	ENSG00000197555		0.443	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	114	0.00	0	G	NM_015556		72139081	72139081	+1	no_errors	ENST00000555818	ensembl	human	known	69_37n	missense	79	18.56	18	SNP	1.000	A
SLC4A7	9497	genome.wustl.edu	37	3	27418334	27418334	+	Frame_Shift_Del	DEL	G	G	-	rs200897110		TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr3:27418334delG	ENST00000295736.5	-	25	3636	c.3566delC	c.(3565-3567)cctfs	p.P1189fs	SLC4A7_ENST00000440156.1_Frame_Shift_Del_p.P1221fs|SLC4A7_ENST00000454389.1_Frame_Shift_Del_p.P1234fs|SLC4A7_ENST00000388777.4_Frame_Shift_Del_p.P775fs|SLC4A7_ENST00000435667.2_Frame_Shift_Del_p.P1110fs|SLC4A7_ENST00000445684.1_Frame_Shift_Del_p.P1185fs|SLC4A7_ENST00000446700.1_Frame_Shift_Del_p.P1181fs|SLC4A7_ENST00000455077.1_Frame_Shift_Del_p.P1106fs|SLC4A7_ENST00000437179.1_Frame_Shift_Del_p.P1070fs|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Frame_Shift_Del_p.P1065fs	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1189					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.P1189fs*5(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	AGGTTTATCAGGACTATTTAA	0.269																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)											60.0	61.0	61.0					3																	27418334		2199	4295	6494	-	-	-	SO:0001589	frameshift_variant	0			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3566delC	3.37:g.27418334delG	ENSP00000295736:p.Pro1189fs		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Frame_Shift_Del	DEL	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	p.P1234fs	ENST00000295736.5	37	c.3701	CCDS33721.1	3																																																																																			SLC4A7	-	NULL	ENSG00000033867		0.269	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	HGNC	protein_coding	OTTHUMT00000341230.2	236	0.00	0	G	NM_003615		27418334	27418334	-1	no_errors	ENST00000454389	ensembl	human	known	69_37n	frame_shift_del	39	23.53	12	DEL	1.000	-
SLC6A3	6531	genome.wustl.edu	37	5	1403164	1403165	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr5:1403164_1403165insG	ENST00000270349.9	-	13	1766_1767	c.1639_1640insC	c.(1639-1641)cacfs	p.H547fs	SLC6A3_ENST00000453492.2_Frame_Shift_Ins_p.H547fs	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	547					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GGCTCCGTAGTGGGGGGGTCTG	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1640dupC	5.37:g.1403171_1403171dupG	ENSP00000270349:p.His547fs		A2RUN4|Q14996	Frame_Shift_Ins	INS	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine	p.H547fs	ENST00000270349.9	37	c.1640_1639	CCDS3863.1	5																																																																																			SLC6A3	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport_dopamine	ENSG00000142319		0.619	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A3	HGNC	protein_coding	OTTHUMT00000253650.3	34	0.00	0	-	NM_001044		1403164	1403165	-1	no_errors	ENST00000270349	ensembl	human	known	69_37n	frame_shift_ins	34	12.82	5	INS	0.992:0.931	G
SOX5	6660	genome.wustl.edu	37	12	23687346	23687346	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr12:23687346C>T	ENST00000451604.2	-	15	2200	c.2099G>A	c.(2098-2100)aGc>aAc	p.S700N	SOX5_ENST00000537393.1_Missense_Mutation_p.S665N|SOX5_ENST00000309359.1_Missense_Mutation_p.S687N|SOX5_ENST00000546136.1_Missense_Mutation_p.S687N|SOX5_ENST00000541536.1_Missense_Mutation_p.S579N|SOX5_ENST00000396007.2_Missense_Mutation_p.S314N|SOX5_ENST00000381381.2_Missense_Mutation_p.S579N|SOX5_ENST00000545921.1_Missense_Mutation_p.S690N			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	700					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S700N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTCTGGGCTGCTAGACACGCT	0.572																																						dbGAP											1	Substitution - Missense(1)	breast(1)											106.0	91.0	96.0					12																	23687346		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.2099G>A	12.37:g.23687346C>T	ENSP00000398273:p.Ser700Asn		B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.S700N	ENST00000451604.2	37	c.2099	CCDS8699.1	12	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152709	0.78001	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000537393;ENST00000541536;ENST00000396007;ENST00000545921	T;T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.66	5.66	0.87406	.	0.073177	0.85682	D	0.000000	T	0.71643	0.3364	M	0.63428	1.95	0.49299	D	0.999776	D;D;D	0.62365	0.978;0.991;0.989	P;P;D	0.72982	0.549;0.842;0.979	T	0.69917	-0.5015	10	0.51188	T	0.08	.	20.1253	0.97977	0.0:1.0:0.0:0.0	.	579;700;314	P35711-4;P35711;P35711-3	.;SOX5_HUMAN;.	N	687;687;579;700;665;579;314;690	ENSP00000437487:S687N;ENSP00000308927:S687N;ENSP00000370788:S579N;ENSP00000398273:S700N;ENSP00000439832:S665N;ENSP00000441973:S579N;ENSP00000379328:S314N;ENSP00000443520:S690N	ENSP00000308927:S687N	S	-	2	0	SOX5	23578613	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.763000	0.85283	2.832000	0.97577	0.655000	0.94253	AGC	SOX5	-	NULL	ENSG00000134532		0.572	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	HGNC	protein_coding	OTTHUMT00000402006.2	253	0.00	0	C	NM_006940		23687346	23687346	-1	no_errors	ENST00000451604	ensembl	human	known	69_37n	missense	107	18.94	25	SNP	1.000	T
SPTBN1	6711	genome.wustl.edu	37	2	54874276	54874276	+	Silent	SNP	G	G	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr2:54874276G>A	ENST00000356805.4	+	24	5156	c.4875G>A	c.(4873-4875)caG>caA	p.Q1625Q	SPTBN1_ENST00000333896.5_Silent_p.Q1612Q	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1625	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.Q1612Q(1)|p.Q1625Q(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGGATGAGCAGAGTGCTGTCT	0.562																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											103.0	91.0	95.0					2																	54874276		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.4875G>A	2.37:g.54874276G>A			B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	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.Q1625	ENST00000356805.4	37	c.4875	CCDS33198.1	2																																																																																			SPTBN1	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000115306		0.562	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	59	0.00	0	G			54874276	54874276	+1	no_errors	ENST00000356805	ensembl	human	known	69_37n	silent	31	16.22	6	SNP	1.000	A
SREK1IP1	285672	genome.wustl.edu	37	5	64050168	64050168	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr5:64050168C>T	ENST00000513458.4	-	2	202	c.35G>A	c.(34-36)aGa>aAa	p.R12K	SREK1IP1_ENST00000506252.1_5'UTR	NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	12					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)		nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R12K(1)		breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						ACAGCCTGCTCTGACACTGTC	0.328																																						dbGAP											1	Substitution - Missense(1)	breast(1)											93.0	87.0	89.0					5																	64050168		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094073	CCDS34171.1	5q12.3	2010-09-20	2010-09-20	2010-09-20	ENSG00000153006	ENSG00000153006			26716	protein-coding gene	gene with protein product	"""p18 splicing regulatory protein"""		"""SFRS12-interacting protein 1"""	SFRS12IP1		15456940	Standard	NM_173829		Approved	FLJ36754, P18SRP	uc003jtk.3	Q8N9Q2	OTTHUMG00000162291	ENST00000513458.4:c.35G>A	5.37:g.64050168C>T	ENSP00000427401:p.Arg12Lys		Q32NC8	Missense_Mutation	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.R12K	ENST00000513458.4	37	c.35	CCDS34171.1	5	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976613	0.74360	.	.	ENSG00000153006	ENST00000513458	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.66877	0.2834	L	0.35644	1.08	0.49582	D	0.999806	D	0.57257	0.979	D	0.71414	0.973	T	0.68161	-0.5482	9	0.62326	D	0.03	-21.8984	14.8606	0.70379	0.0:1.0:0.0:0.0	.	12	Q8N9Q2	SR1IP_HUMAN	K	12	.	ENSP00000427401:R12K	R	-	2	0	SREK1IP1	64085924	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.981000	0.56902	2.645000	0.89757	0.561000	0.74099	AGA	SREK1IP1	-	superfamily_Znf_CCHC	ENSG00000153006		0.328	SREK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SREK1IP1	HGNC	protein_coding	OTTHUMT00000368457.4	287	0.00	0	C	NM_173829		64050168	64050168	-1	no_errors	ENST00000513458	ensembl	human	known	69_37n	missense	164	20.39	42	SNP	1.000	T
STK38L	23012	genome.wustl.edu	37	12	27461300	27461300	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr12:27461300G>A	ENST00000389032.3	+	4	384	c.215G>A	c.(214-216)cGc>cAc	p.R72H	STK38L_ENST00000539577.1_Intron	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like									p.R72H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					CAACACGCTCGCAAAGAAACA	0.368																																						dbGAP											1	Substitution - Missense(1)	breast(1)											92.0	96.0	94.0					12																	27461300		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"""nuclear Dbf2-related 2"""	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.215G>A	12.37:g.27461300G>A	ENSP00000373684:p.Arg72His			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.R72H	ENST00000389032.3	37	c.215	CCDS31761.1	12	.	.	.	.	.	.	.	.	.	.	G	27.7	4.851305	0.91355	.	.	ENSG00000211455	ENST00000541191;ENST00000389032;ENST00000540996;ENST00000543246;ENST00000544969	T;T;T;T;T	0.51071	0.96;0.72;0.96;0.96;0.96	4.54	4.54	0.55810	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	M	0.79475	2.455	0.80722	D	1	P	0.43973	0.823	B	0.36989	0.238	T	0.61426	-0.7065	10	0.49607	T	0.09	.	17.29	0.87153	0.0:0.0:1.0:0.0	.	72	Q9Y2H1	ST38L_HUMAN	H	72	ENSP00000437856:R72H;ENSP00000373684:R72H;ENSP00000443838:R72H;ENSP00000442253:R72H;ENSP00000440279:R72H	ENSP00000373684:R72H	R	+	2	0	STK38L	27352567	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.585000	0.82584	2.257000	0.74773	0.460000	0.39030	CGC	STK38L	-	superfamily_Kinase-like_dom	ENSG00000211455		0.368	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK38L	HGNC	protein_coding	OTTHUMT00000403297.1	225	0.00	0	G	NM_015000		27461300	27461300	+1	no_errors	ENST00000389032	ensembl	human	known	69_37n	missense	90	23.08	27	SNP	1.000	A
SYNE2	23224	genome.wustl.edu	37	14	64580077	64580077	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr14:64580077G>A	ENST00000344113.4	+	66	12840	c.12628G>A	c.(12628-12630)Gag>Aag	p.E4210K	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E595K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4225K|SYNE2_ENST00000357395.3_Missense_Mutation_p.E595K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E844K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4210K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4210					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)	p.E4210K(1)		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)		ACCTCCTATTGAGGCTGACAC	0.537																																						dbGAP											1	Substitution - Missense(1)	breast(1)											61.0	61.0	61.0					14																	64580077		2203	4300	6503	-	-	-	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.12628G>A	14.37:g.64580077G>A	ENSP00000341781:p.Glu4210Lys		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.E4210K	ENST00000344113.4	37	c.12628	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	6.179	0.401137	0.11696	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000553308	T;T;T;T;T;T	0.55234	0.87;4.18;0.87;0.53;4.23;4.18	5.97	-11.3	0.00108	.	1.446150	0.03923	N	0.283847	T	0.28333	0.0700	N	0.11560	0.145	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.13602	-1.0503	10	0.20519	T	0.43	.	13.5457	0.61702	0.2164:0.1836:0.6:0.0	.	595;4210;4210	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	K	4210;595;4210;4225;4225;844;595;102	ENSP00000350719:E4210K;ENSP00000349969:E595K;ENSP00000341781:E4210K;ENSP00000452570:E4225K;ENSP00000450831:E844K;ENSP00000378249:E595K	ENSP00000261678:E4225K	E	+	1	0	SYNE2	63649830	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.298000	0.08265	-2.002000	0.00963	-0.290000	0.09829	GAG	SYNE2	-	NULL	ENSG00000054654		0.537	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	79	0.00	0	G	NM_182914		64580077	64580077	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	missense	58	19.44	14	SNP	0.000	A
TCEB3C	162699	genome.wustl.edu	37	18	44555531	44555532	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr18:44555531_44555532insCA	ENST00000330682.2	-	1	917_918	c.682_683insTG	c.(682-684)aaafs	p.K228fs	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	228					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GCGGGACGATTTGTGCCCCTTG	0.688																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.682_683insTG	18.37:g.44555531_44555532insCA	ENSP00000328232:p.Lys228fs			Frame_Shift_Ins	INS	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.K228fs	ENST00000330682.2	37	c.683_682	CCDS11931.1	18																																																																																			TCEB3C	-	NULL	ENSG00000183791		0.688	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3C	HGNC	protein_coding	OTTHUMT00000255902.1	38	0.00	0	-	NM_145653		44555531	44555532	-1	no_errors	ENST00000330682	ensembl	human	known	69_37n	frame_shift_ins	60	25.00	20	INS	0.002:0.022	CA
TFAP2A	7020	genome.wustl.edu	37	6	10404880	10404880	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr6:10404880C>T	ENST00000482890.1	-	5	977	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	TFAP2A_ENST00000379608.3_Missense_Mutation_p.E203K|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379604.2_Missense_Mutation_p.E209K|TFAP2A_ENST00000319516.4_Missense_Mutation_p.E205K|TFAP2A_ENST00000379613.3_Missense_Mutation_p.E211K			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	209					anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II 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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.E203K(1)|p.E205K(1)|p.E209K(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CAGAAGACTTCGTTGGGGTTC	0.617																																						dbGAP											3	Substitution - Missense(3)	breast(3)											80.0	79.0	79.0					6																	10404880		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.625G>A	6.37:g.10404880C>T	ENSP00000418541:p.Glu209Lys		Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N	p.E209K	ENST00000482890.1	37	c.625	CCDS4510.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.495163	0.96339	.	.	ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890;ENST00000466073;ENST00000498450	D;D;D;D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27	5.47	4.61	0.57282	Transcription factor AP-2, C-terminal (1);	0.094116	0.64402	D	0.000001	D	0.98049	0.9357	M	0.82923	2.615	0.80722	D	1	D;D;D;D;D	0.71674	0.992;0.998;0.979;0.979;0.973	P;D;P;B;P	0.80764	0.715;0.994;0.588;0.404;0.764	D	0.98962	1.0798	10	0.87932	D	0	-11.1502	13.9644	0.64200	0.0:0.9263:0.0:0.0737	.	209;211;205;209;203	C1K3N0;Q96SH0;Q5TAV5;P05549;Q8N1C6	.;.;.;AP2A_HUMAN;.	K	211;209;205;203;209;209;66	ENSP00000368933:E211K;ENSP00000368924:E209K;ENSP00000316516:E205K;ENSP00000368928:E203K;ENSP00000418541:E209K;ENSP00000417495:E209K;ENSP00000419961:E66K	ENSP00000316516:E205K	E	-	1	0	TFAP2A	10512866	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.538000	0.82048	1.309000	0.44985	0.655000	0.94253	GAA	TFAP2A	-	pfam_TF_AP2_C	ENSG00000137203		0.617	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	TFAP2A	HGNC	protein_coding	OTTHUMT00000353619.2	63	0.00	0	C	NM_003220		10404880	10404880	-1	no_errors	ENST00000379604	ensembl	human	known	69_37n	missense	54	14.29	9	SNP	1.000	T
THOC1	9984	genome.wustl.edu	37	18	247878	247878	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr18:247878C>T	ENST00000261600.6	-	10	764	c.757G>A	c.(757-759)Gag>Aag	p.E253K	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	253					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.E253K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				GAAATCTTCTCATAGCATTGC	0.343																																						dbGAP											1	Substitution - Missense(1)	breast(1)											106.0	101.0	102.0					18																	247878		1825	4074	5899	-	-	-	SO:0001583	missense	0			AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"""THO complex subunits"""	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.757G>A	18.37:g.247878C>T	ENSP00000261600:p.Glu253Lys		B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	pfam_THO_THOC1,pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death	p.E253K	ENST00000261600.6	37	c.757	CCDS45820.1	18	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680485	0.47886	.	.	ENSG00000079134	ENST00000261600	.	.	.	5.59	4.72	0.59763	.	0.050781	0.85682	D	0.000000	T	0.44030	0.1274	L	0.28192	0.835	0.53688	D	0.999974	B;B	0.29301	0.241;0.01	B;B	0.25140	0.058;0.015	T	0.26503	-1.0101	9	0.21540	T	0.41	-11.7614	15.9491	0.79820	0.136:0.864:0.0:0.0	.	253;253	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	K	253	.	ENSP00000261600:E253K	E	-	1	0	THOC1	237878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.421000	0.80204	1.345000	0.45676	0.650000	0.86243	GAG	THOC1	-	pfam_THO_THOC1	ENSG00000079134		0.343	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC1	HGNC	protein_coding	OTTHUMT00000440348.5	163	0.00	0	C	NM_005131		247878	247878	-1	no_errors	ENST00000261600	ensembl	human	known	69_37n	missense	64	14.67	11	SNP	1.000	T
TJP1	7082	genome.wustl.edu	37	15	30003159	30003159	+	Silent	SNP	C	C	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr15:30003159C>T	ENST00000346128.6	-	24	4722	c.4248G>A	c.(4246-4248)gaG>gaA	p.E1416E	TJP1_ENST00000356107.6_Silent_p.E1416E|TJP1_ENST00000545208.2_Silent_p.E1336E|TJP1_ENST00000400011.2_Silent_p.E1340E	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1416					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.E1416E(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CATAGCGTTTCTCGCCAAATG	0.507																																					Melanoma(77;681 1843 6309 6570)	dbGAP											1	Substitution - coding silent(1)	breast(1)											167.0	178.0	174.0					15																	30003159		2026	4195	6221	-	-	-	SO:0001819	synonymous_variant	0				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4248G>A	15.37:g.30003159C>T			B4E3K1|Q2NKP3|Q4ZGJ6	Silent	SNP	pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens	p.E1416	ENST00000346128.6	37	c.4248	CCDS42007.1	15																																																																																			TJP1	-	NULL	ENSG00000104067		0.507	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	HGNC	protein_coding	OTTHUMT00000268237.3	208	0.00	0	C	NM_003257		30003159	30003159	-1	no_errors	ENST00000346128	ensembl	human	known	69_37n	silent	236	31.79	110	SNP	0.997	T
TLN1	7094	genome.wustl.edu	37	9	35705643	35705643	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr9:35705643C>G	ENST00000314888.9	-	43	5991	c.5638G>C	c.(5638-5640)Gag>Cag	p.E1880Q	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1880	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.E1880Q(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCCAGCTCCTCTGGGCTGGTG	0.552																																						dbGAP											1	Substitution - Missense(1)	breast(1)											61.0	63.0	62.0					9																	35705643		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.5638G>C	9.37:g.35705643C>G	ENSP00000316029:p.Glu1880Gln		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.E1880Q	ENST00000314888.9	37	c.5638	CCDS35009.1	9	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814473	0.50527	.	.	ENSG00000137076	ENST00000314888	T	0.33865	1.39	5.59	5.59	0.84812	Vinculin-binding site-containing domain (1);	0.050506	0.85682	D	0.000000	T	0.36963	0.0986	L	0.45228	1.405	0.80722	D	1	B	0.25850	0.136	B	0.32149	0.141	T	0.09314	-1.0680	10	0.21540	T	0.41	-27.3315	19.5942	0.95527	0.0:1.0:0.0:0.0	.	1880	Q9Y490	TLN1_HUMAN	Q	1880	ENSP00000316029:E1880Q	ENSP00000316029:E1880Q	E	-	1	0	TLN1	35695643	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.814000	0.86154	2.626000	0.88956	0.555000	0.69702	GAG	TLN1	-	pfam_Vinculin-bd_dom,superfamily_Vinculin/catenin	ENSG00000137076		0.552	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	29	0.00	0	C	NM_006289		35705643	35705643	-1	no_errors	ENST00000314888	ensembl	human	known	69_37n	missense	48	14.29	8	SNP	1.000	G
TMOD3	29766	genome.wustl.edu	37	15	52161504	52161504	+	Silent	SNP	C	C	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr15:52161504C>T	ENST00000308580.7	+	3	498	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L	TMOD3_ENST00000544199.1_Silent_p.L73L	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	73						striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)	p.L73L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		CCTTTCATATCTGGAGAAAGA	0.458																																					Colon(122;1837 2251 18387 22826)	dbGAP											1	Substitution - coding silent(1)	breast(1)											99.0	99.0	99.0					15																	52161504		2195	4293	6488	-	-	-	SO:0001819	synonymous_variant	0			AF177171	CCDS10145.1	15q21.1-q21.2	2008-05-14			ENSG00000138594	ENSG00000138594			11873	protein-coding gene	gene with protein product		605112				10662549	Standard	NM_014547		Approved	UTMOD	uc002abn.3	Q9NYL9	OTTHUMG00000131803	ENST00000308580.7:c.217C>T	15.37:g.52161504C>T			B2R6G7|Q9NT43|Q9NZR0	Silent	SNP	pfam_Tropomodulin	p.L73	ENST00000308580.7	37	c.217	CCDS10145.1	15																																																																																			TMOD3	-	pfam_Tropomodulin	ENSG00000138594		0.458	TMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMOD3	HGNC	protein_coding	OTTHUMT00000254740.3	236	0.00	0	C			52161504	52161504	+1	no_errors	ENST00000308580	ensembl	human	known	69_37n	silent	142	55.17	176	SNP	1.000	T
TRPC4AP	26133	genome.wustl.edu	37	20	33609154	33609154	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr20:33609154T>C	ENST00000252015.2	-	9	1146	c.1057A>G	c.(1057-1059)Att>Gtt	p.I353V	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.I314V|TRPC4AP_ENST00000451813.2_Intron|TRPC4AP_ENST00000539834.1_Intron			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	353	Interaction with TNFRSF1A. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)	p.I353V(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGGAACACAATGGAGGCTGAC	0.547																																						dbGAP											1	Substitution - Missense(1)	breast(1)											73.0	65.0	68.0					20																	33609154		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.1057A>G	20.37:g.33609154T>C	ENSP00000252015:p.Ile353Val		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	pfam_DUF3689	p.I353V	ENST00000252015.2	37	c.1057	CCDS13246.1	20	.	.	.	.	.	.	.	.	.	.	T	3.265	-0.150307	0.06585	.	.	ENSG00000100991	ENST00000252015;ENST00000432634;ENST00000541994	.	.	.	5.25	1.79	0.24919	.	0.451921	0.20913	N	0.083427	T	0.23688	0.0573	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.04307	-1.0961	9	0.11794	T	0.64	.	4.2882	0.10865	0.0:0.274:0.1875:0.5385	.	314;353	B4E0Q1;Q8TEL6	.;TP4AP_HUMAN	V	353;314;338	.	ENSP00000252015:I353V	I	-	1	0	TRPC4AP	33072815	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.524000	0.22940	0.422000	0.26005	0.459000	0.35465	ATT	TRPC4AP	-	NULL	ENSG00000100991		0.547	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4AP	HGNC	protein_coding	OTTHUMT00000078832.2	59	0.00	0	T	NM_015638		33609154	33609154	-1	no_errors	ENST00000252015	ensembl	human	known	69_37n	missense	44	24.14	14	SNP	0.978	C
NCBP2L	392517	genome.wustl.edu	37	X	107018376	107018376	+	5'Flank	SNP	G	G	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chrX:107018376G>A	ENST00000509000.2	+	0	0				TSC22D3_ENST00000315660.4_Missense_Mutation_p.R92C|TSC22D3_ENST00000372384.2_Missense_Mutation_p.R92C|TSC22D3_ENST00000372383.4_Missense_Mutation_p.R92C|TSC22D3_ENST00000514426.1_Missense_Mutation_p.R24C|TSC22D3_ENST00000506081.1_Missense_Mutation_p.R92C			A6PVI3	NCB2L_HUMAN	nuclear cap binding protein subunit 2-like						mRNA cis splicing, via spliceosome (GO:0045292)	nuclear cap binding complex (GO:0005846)	nucleotide binding (GO:0000166)|RNA cap binding (GO:0000339)	p.R92C(1)		large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						TCGATGTTGCGGTTGCAGATG	0.602																																						dbGAP											1	Substitution - Missense(1)	breast(1)											177.0	119.0	139.0					X																	107018376		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0					Xq22.3	2013-02-12			ENSG00000170935	ENSG00000170935		"""RNA binding motif (RRM) containing"""	31795	protein-coding gene	gene with protein product							Standard	NG_011409		Approved			A6PVI3	OTTHUMG00000022169		X.37:g.107018376G>A	Exception_encountered			Missense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.R92C	ENST00000509000.2	37	c.274		X	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993792	0.54041	.	.	ENSG00000157514	ENST00000315660;ENST00000372383;ENST00000372384;ENST00000394928;ENST00000506081;ENST00000514426;ENST00000514897;ENST00000480691;ENST00000510887;ENST00000502650;ENST00000506724	.	.	.	5.22	5.22	0.72569	.	0.129876	0.52532	D	0.000073	T	0.25531	0.0621	N	0.17082	0.46	0.46927	D	0.99925	P	0.47350	0.894	B	0.31686	0.134	T	0.11108	-1.0601	9	0.48119	T	0.1	-18.3851	10.6285	0.45521	0.0:0.0:0.8086:0.1914	.	92	Q99576-3	.	C	92;92;92;71;92;24;92;92;92;92;92	.	ENSP00000314655:R92C	R	-	1	0	TSC22D3	106905032	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.498000	0.53302	2.313000	0.78055	0.600000	0.82982	CGC	TSC22D3	-	NULL	ENSG00000157514		0.602	NCBP2L-001	KNOWN	basic|appris_principal|exp_conf	protein_coding	TSC22D3	HGNC	protein_coding	OTTHUMT00000057850.2	83	0.00	0	G	XM_373362		107018376	107018376	-1	no_errors	ENST00000315660	ensembl	human	known	69_37n	missense	56	20.00	14	SNP	1.000	A
UBQLN1	29979	genome.wustl.edu	37	9	86294885	86294885	+	Silent	SNP	C	C	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr9:86294885C>T	ENST00000376395.4	-	4	1039	c.516G>A	c.(514-516)caG>caA	p.Q172Q	UBQLN1_ENST00000257468.7_Silent_p.Q172Q	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	172					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)	p.Q172Q(1)		breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GCATCTGACTCTGTAGTTCAG	0.443																																					Melanoma(186;1284 2073 12755 14558 18426)	dbGAP											1	Substitution - coding silent(1)	breast(1)											125.0	120.0	121.0					9																	86294885		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.516G>A	9.37:g.86294885C>T			Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Silent	SNP	pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.Q172	ENST00000376395.4	37	c.516	CCDS6663.1	9																																																																																			UBQLN1	-	NULL	ENSG00000135018		0.443	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	UBQLN1	HGNC	protein_coding	OTTHUMT00000052834.1	145	0.00	0	C	NM_013438		86294885	86294885	-1	no_errors	ENST00000376395	ensembl	human	known	69_37n	silent	58	17.14	12	SNP	1.000	T
UBR5	51366	genome.wustl.edu	37	8	103291157	103291157	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr8:103291157C>T	ENST00000520539.1	-	44	6791	c.6185G>A	c.(6184-6186)aGa>aAa	p.R2062K	UBR5_ENST00000220959.4_Missense_Mutation_p.R2062K|UBR5_ENST00000521922.1_Missense_Mutation_p.R2056K	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2062					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.R2062K(1)|p.R2062T(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATCCTCCTTTCTAGCATTTGG	0.348																																					Ovarian(131;96 1741 5634 7352 27489)	dbGAP											2	Substitution - Missense(2)	lung(1)|breast(1)											98.0	111.0	107.0					8																	103291157		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6185G>A	8.37:g.103291157C>T	ENSP00000429084:p.Arg2062Lys		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.R2062K	ENST00000520539.1	37	c.6185	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838570	0.71373	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.44482	0.92;0.92;0.92	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.46756	0.1409	N	0.22421	0.69	0.54753	D	0.999988	P;P	0.44690	0.841;0.841	P;P	0.57204	0.815;0.815	T	0.09422	-1.0675	10	0.10902	T	0.67	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	2056;2062	E7EMW7;O95071	.;UBR5_HUMAN	K	2062;2062;2056	ENSP00000429084:R2062K;ENSP00000220959:R2062K;ENSP00000427819:R2056K	ENSP00000220959:R2062K	R	-	2	0	UBR5	103360333	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.854000	0.98071	0.655000	0.94253	AGA	UBR5	-	NULL	ENSG00000104517		0.348	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	109	0.00	0	C	NM_015902		103291157	103291157	-1	no_errors	ENST00000520539	ensembl	human	known	69_37n	missense	45	18.18	10	SNP	1.000	T
USPL1	10208	genome.wustl.edu	37	13	31233065	31233065	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr13:31233065G>A	ENST00000255304.4	+	9	3193	c.2851G>A	c.(2851-2853)Gag>Aag	p.E951K		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	951					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)	p.E951K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TATTGCCAGTGAGTCTGCATG	0.413																																					Ovarian(60;318 1180 1554 28110 31601)	dbGAP											1	Substitution - Missense(1)	breast(1)											152.0	153.0	153.0					13																	31233065		2203	4300	6503	-	-	-	SO:0001583	missense	0			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.2851G>A	13.37:g.31233065G>A	ENSP00000255304:p.Glu951Lys		Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	pfscan_Peptidase_C19	p.E951K	ENST00000255304.4	37	c.2851	CCDS9336.1	13	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.317077	0.00235	.	.	ENSG00000132952	ENST00000255304	T	0.11495	2.77	5.22	1.31	0.21738	.	0.819244	0.11457	N	0.562215	T	0.02156	0.0067	N	0.01109	-1.01	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.43196	-0.9406	10	0.02654	T	1	-12.68	0.5196	0.00609	0.3679:0.2476:0.1444:0.2401	.	951	Q5W0Q7	USPL1_HUMAN	K	951	ENSP00000255304:E951K	ENSP00000255304:E951K	E	+	1	0	USPL1	30131065	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.323000	0.19593	0.079000	0.16929	-0.312000	0.09012	GAG	USPL1	-	NULL	ENSG00000132952		0.413	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USPL1	HGNC	protein_coding	OTTHUMT00000044369.1	87	0.00	0	G	NM_005800		31233065	31233065	+1	no_errors	ENST00000255304	ensembl	human	known	69_37n	missense	46	23.33	14	SNP	0.000	A
WDR59	79726	genome.wustl.edu	37	16	74972086	74972086	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr16:74972086G>A	ENST00000262144.6	-	8	743	c.613C>T	c.(613-615)Cac>Tac	p.H205Y		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	205								p.H205Y(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GCAAGAATGTGCTCGCTGTCT	0.522																																						dbGAP											1	Substitution - Missense(1)	breast(1)											169.0	151.0	157.0					16																	74972086		2198	4300	6498	-	-	-	SO:0001583	missense	0			AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.613C>T	16.37:g.74972086G>A	ENSP00000262144:p.His205Tyr		B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H205Y	ENST00000262144.6	37	c.613	CCDS32488.1	16	.	.	.	.	.	.	.	.	.	.	G	6.393	0.440610	0.12104	.	.	ENSG00000103091	ENST00000262144;ENST00000536050	T	0.60424	0.19	5.6	5.6	0.85130	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.224355	0.47455	D	0.000240	T	0.31949	0.0813	N	0.17564	0.495	0.31981	N	0.60583	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37911	-0.9685	10	0.02654	T	1	-23.1604	5.6856	0.17801	0.1491:0.0:0.6836:0.1673	.	205;205	Q6PJI9-2;Q6PJI9	.;WDR59_HUMAN	Y	205;184	ENSP00000262144:H205Y	ENSP00000262144:H205Y	H	-	1	0	WDR59	73529587	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.844000	0.69430	2.625000	0.88918	0.655000	0.94253	CAC	WDR59	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000103091		0.522	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR59	HGNC	protein_coding	OTTHUMT00000410601.3	295	0.00	0	G	NM_030581		74972086	74972086	-1	no_errors	ENST00000262144	ensembl	human	known	69_37n	missense	210	12.40	30	SNP	1.000	A
ZPR1	8882	genome.wustl.edu	37	11	116655592	116655592	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr11:116655592G>A	ENST00000227322.3	-	8	858	c.799C>T	c.(799-801)Cag>Tag	p.Q267*		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		267					apoptotic process involved in development (GO:1902742)|axon development (GO:0061564)|Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA endoreduplication (GO:0042023)|inner cell mass cell proliferation (GO:0001833)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of motor neuron apoptotic process (GO:2000672)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of RNA splicing (GO:0033120)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|pre-mRNA catabolic process (GO:1990261)|regulation of myelination (GO:0031641)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|trophectodermal cell proliferation (GO:0001834)	axon (GO:0030424)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|SMN complex (GO:0032797)	translation initiation factor binding (GO:0031369)|zinc ion binding (GO:0008270)	p.Q267*(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		ATGTTGGTCTGAGCGGGGGCA	0.507																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											114.0	101.0	105.0					11																	116655592		2201	4296	6497	-	-	-	SO:0001587	stop_gained	0																														ENST00000227322.3:c.799C>T	11.37:g.116655592G>A	ENSP00000227322:p.Gln267*		Q2TAA0	Nonsense_Mutation	SNP	pfam_Znf_ZPR1,smart_Znf_ZPR1,tigrfam_Znf_ZPR1	p.Q267*	ENST00000227322.3	37	c.799	CCDS8375.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.59|18.59	3.656611|3.656611	0.67586|0.67586	.|.	.|.	ENSG00000109917|ENSG00000109917	ENST00000227322|ENST00000429220	.|.	.|.	.|.	5.92|5.92	4.94|4.94	0.65067|0.65067	.|.	0.380514|.	0.30989|.	N|.	0.008467|.	.|T	.|0.56217	.|0.1970	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63341	.|-0.6659	.|3	0.23302|.	T|.	0.38|.	-21.3676|-21.3676	11.6489|11.6489	0.51277|0.51277	0.0:0.0:0.6199:0.3801|0.0:0.0:0.6199:0.3801	.|.	.|.	.|.	.|.	X|L	267|193	.|.	ENSP00000227322:Q267X|.	Q|S	-|-	1|2	0|0	ZNF259|ZNF259	116160802|116160802	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.417000|0.417000	0.31264|0.31264	3.373000|3.373000	0.52394|0.52394	2.795000|2.795000	0.96236|0.96236	0.655000|0.655000	0.94253|0.94253	CAG|TCA	ZNF259	-	pfam_Znf_ZPR1,smart_Znf_ZPR1,tigrfam_Znf_ZPR1	ENSG00000109917		0.507	ZNF259-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF259	HGNC	protein_coding	OTTHUMT00000106283.2	109	0.00	0	G			116655592	116655592	-1	no_errors	ENST00000227322	ensembl	human	known	69_37n	nonsense	84	25.00	28	SNP	0.954	A
ZNF486	90649	genome.wustl.edu	37	19	20308257	20308257	+	Silent	SNP	C	C	T			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr19:20308257C>T	ENST00000335117.8	+	4	795	c.738C>T	c.(736-738)gtC>gtT	p.V246V	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	246					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V246V(1)|p.V240V(1)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						GTGGCAAAGTCTTTAAGTACT	0.383																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											36.0	39.0	38.0					19																	20308257		2143	4269	6412	-	-	-	SO:0001819	synonymous_variant	0			BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.738C>T	19.37:g.20308257C>T			Q0VG00	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V246	ENST00000335117.8	37	c.738	CCDS46029.1	19																																																																																			ZNF486	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000256229		0.383	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF486	HGNC	protein_coding	OTTHUMT00000447843.2	31	0.00	0	C	NM_052852		20308257	20308257	+1	no_errors	ENST00000335117	ensembl	human	known	69_37n	silent	30	18.92	7	SNP	0.048	T
ZNF516	9658	genome.wustl.edu	37	18	74153933	74153934	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AO-A0J9-01A-11W-A050-09	TCGA-AO-A0J9-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9932232f-a7b0-4962-9b14-adb8316a4661	635a03b8-f873-4ec7-bb1d-82dbcc6cb02a	g.chr18:74153933_74153934insG	ENST00000443185.2	-	3	1394_1395	c.1077_1078insC	c.(1075-1080)agagtcfs	p.V360fs	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTGGCCTCGACTCTGCGGTGGA	0.668																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.1077_1078insC	18.37:g.74153933_74153934insG	ENSP00000394757:p.Val360fs			Frame_Shift_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V359fs	ENST00000443185.2	37	c.1078_1077		18																																																																																			ZNF516	-	pfscan_Znf_C2H2	ENSG00000101493		0.668	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	ZNF516	HGNC	protein_coding		9	0.00	0	-	NM_014643		74153933	74153934	-1	no_errors	ENST00000443185	ensembl	human	known	69_37n	frame_shift_ins	12	47.83	11	INS	0.000:0.000	G
