#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ADAMTS20	80070	genome.wustl.edu	37	12	43833503	43833503	+	De_novo_Start_OutOfFrame	SNP	T	T	C			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr12:43833503T>C	ENST00000395541.2	-	0	12				ADAMTS20_ENST00000389420.3_Missense_Mutation_p.I839V|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.I839V			P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20						extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCCAAAGGGATATTGAAGGAA	0.378																																																	0													90.0	79.0	83.0					12																	43833503		2203	4300	6503			0			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000395541.2:c.-24A>G	12.37:g.43833503T>C			A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.I839V	ENST00000395541.2	37	c.2515		12	.	.	.	.	.	.	.	.	.	.	T	3.611	-0.079531	0.07141	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000553158;ENST00000389417	T;T;T	0.62105	0.7;0.05;0.7	5.25	4.1	0.47936	ADAM-TS Spacer 1 (1);	0.000000	0.52532	D	0.000077	T	0.52996	0.1769	L	0.50993	1.605	0.80722	D	1	B	0.16603	0.018	B	0.20184	0.028	T	0.45205	-0.9277	10	0.21540	T	0.41	.	10.2792	0.43530	0.0:0.1404:0.0:0.8596	.	839	P59510	ATS20_HUMAN	V	839;5;839;839	ENSP00000374071:I839V;ENSP00000447427:I5V;ENSP00000448341:I839V	ENSP00000374068:I839V	I	-	1	0	ADAMTS20	42119770	1.000000	0.71417	0.998000	0.56505	0.041000	0.13682	2.636000	0.46545	1.087000	0.41251	-0.256000	0.11100	ATC	ADAMTS20	-	pfam_ADAM_spacer1	ENSG00000173157		0.378	ADAMTS20-201	KNOWN	basic	protein_coding	ADAMTS20	HGNC	protein_coding		-	0.00	28	0	T	NM_025003		43833503	-1	tier1	-	no_errors	ENST00000389420	ensembl	human	known	74_37	missense	39.53	26	17	SNP	1.000	C
ACACB	32	genome.wustl.edu	37	12	109670566	109670566	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr12:109670566G>A	ENST00000338432.7	+	29	4213	c.4094G>A	c.(4093-4095)cGc>cAc	p.R1365H	ACACB_ENST00000543201.1_Missense_Mutation_p.R31H|ACACB_ENST00000377854.5_Missense_Mutation_p.R1295H|ACACB_ENST00000377848.3_Missense_Mutation_p.R1365H			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1365					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)			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)	CTGTGCCAGCGCATGGGAGCC	0.607																																																	0													86.0	75.0	79.0					12																	109670566		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.4094G>A	12.37:g.109670566G>A	ENSP00000341044:p.Arg1365His		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_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.R1365H	ENST00000338432.7	37	c.4094	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.234337	0.95207	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	4.93	4.93	0.64822	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.73783	0.3631	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77005	-0.2748	10	0.87932	D	0	.	19.0356	0.92976	0.0:0.0:1.0:0.0	.	1365	O00763	ACACB_HUMAN	H	1365;1365;1295;596;31	ENSP00000341044:R1365H;ENSP00000367079:R1365H;ENSP00000367085:R1295H;ENSP00000444075:R31H	ENSP00000341044:R1365H	R	+	2	0	ACACB	108154949	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.792000	0.99085	2.655000	0.90218	0.655000	0.94253	CGC	ACACB	-	pfam_AcCoA_COase_cen	ENSG00000076555		0.607	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	-	0.00	41	0	G	NM_001093		109670566	+1	tier1	-	no_errors	ENST00000338432	ensembl	human	known	74_37	missense	16.92	53	11	SNP	1.000	A
ANKDD1A	348094	genome.wustl.edu	37	15	65218355	65218355	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr15:65218355G>C	ENST00000380230.3	+	5	486	c.457G>C	c.(457-459)Gac>Cac	p.D153H	ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.D153H|ANKDD1A_ENST00000496660.1_Missense_Mutation_p.D62H|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.D153H|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.D62H	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	153					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						TGTGGCCCTGGACCACGTAGA	0.582																																																	0													89.0	70.0	77.0					15																	65218355		2202	4299	6501	SO:0001583	missense	0				CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.457G>C	15.37:g.65218355G>C	ENSP00000369579:p.Asp153His		Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,prints_Ankyrin_rpt	p.D153H	ENST00000380230.3	37	c.457	CCDS10197.2	15	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447023	0.63178	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000496660;ENST00000395723	T;T;T;T;T	0.73152	2.27;2.27;2.27;-0.72;2.28	4.31	4.31	0.51392	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000010	T	0.79563	0.4467	L	0.53780	1.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.995;0.996;0.987;0.991	T	0.81315	-0.0988	10	0.87932	D	0	-32.2217	12.1532	0.54062	0.0:0.0:1.0:0.0	.	153;59;153;153	Q495B1;A4QMR4;Q495B1-2;Q495B1-1	AKD1A_HUMAN;.;.;.	H	153;153;153;62;62	ENSP00000369579:D153H;ENSP00000350329:D153H;ENSP00000379070:D153H;ENSP00000420999:D62H;ENSP00000379073:D62H	ENSP00000350329:D153H	D	+	1	0	ANKDD1A	63005408	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.265000	0.65519	2.247000	0.74100	0.563000	0.77884	GAC	ANKDD1A	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000166839		0.582	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKDD1A	HGNC	protein_coding	OTTHUMT00000256705.2	-	0.00	69	0	G	NM_182703		65218355	+1	tier1	-	no_errors	ENST00000380230	ensembl	human	known	74_37	missense	26.76	52	19	SNP	1.000	C
ARHGEF1	9138	genome.wustl.edu	37	19	42411345	42411345	+	3'UTR	SNP	G	G	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr19:42411345G>T	ENST00000354532.3	+	0	2993				ARHGEF1_ENST00000378152.4_Missense_Mutation_p.G876V|CTD-2575K13.6_ENST00000597630.1_RNA|ARHGEF1_ENST00000347545.4_3'UTR|ARHGEF1_ENST00000337665.4_3'UTR|ARHGEF1_ENST00000599846.1_3'UTR	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1						cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CACCCCGAGGGCCTGAGGAGA	0.667																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.*106G>T	19.37:g.42411345G>T			O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	pfam_RGS-like_dom,pfam_DH-domain,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G876V	ENST00000354532.3	37	c.2627	CCDS12591.1	19	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232247	0.79688	.	.	ENSG00000076928	ENST00000378152	T	0.70631	-0.5	2.54	2.54	0.30619	.	1.795830	0.03615	N	0.235444	D	0.83450	0.5257	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.74671	-0.3587	9	0.87932	D	0	0.0761	8.7537	0.34633	0.0:0.0:1.0:0.0	.	876	Q6NX52	.	V	876	ENSP00000367394:G876V	ENSP00000367394:G876V	G	+	2	0	ARHGEF1	47103185	0.994000	0.37717	0.476000	0.27291	0.956000	0.61745	2.402000	0.44521	1.731000	0.51592	0.485000	0.47835	GGC	ARHGEF1	-	NULL	ENSG00000076928		0.667	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF1	HGNC	protein_coding	OTTHUMT00000463360.1	-	0.00	91	0	G	NM_199002		42411345	+1	tier1	-	no_errors	ENST00000378152	ensembl	human	putative	74_37	missense	45.83	39	33	SNP	0.812	T
ABCB9	23457	genome.wustl.edu	37	12	123466293	123466295	+	5'Flank	DEL	GAA	GAA	-			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr12:123466293_123466295delGAA	ENST00000542678.1	-	0	0				RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000426960.2_In_Frame_Del_p.K98del|ARL6IP4_ENST00000357866.4_In_Frame_Del_p.K109del|ARL6IP4_ENST00000315580.5_In_Frame_Del_p.K240del|ARL6IP4_ENST00000412505.2_In_Frame_Del_p.K98del|ARL6IP4_ENST00000454885.2_In_Frame_Del_p.K106del|ARL6IP4_ENST00000392435.2_In_Frame_Del_p.K221del|ARL6IP4_ENST00000439686.2_In_Frame_Del_p.K109del|ARL6IP4_ENST00000453766.2_In_Frame_Del_p.K232del|ARL6IP4_ENST00000543566.1_In_Frame_Del_p.K221del			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9						peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		acaagaggaggaagaagaagaag	0.571																																					Ovarian(49;786 1333 9175 38236)												0																																										SO:0001631	upstream_gene_variant	0			U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78			12.37:g.123466302_123466304delGAA	Exception_encountered		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	In_Frame_Del	DEL	pfam_Nucl_RNA-splicing_assoc_SR-25	p.K239in_frame_del	ENST00000542678.1	37	c.705_707	CCDS9241.1	12																																																																																			ARL6IP4	-	pfam_Nucl_RNA-splicing_assoc_SR-25	ENSG00000182196		0.571	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL6IP4	HGNC	protein_coding	OTTHUMT00000400956.1		0.00	21	0	GAA	NM_019624		123466295	+1	tier1		no_errors	ENST00000315580	ensembl	human	known	74_37	in_frame_del	12.50	21	3	DEL	0.997:1.000:0.999	-
ASAP3	55616	genome.wustl.edu	37	1	23769086	23769086	+	Missense_Mutation	SNP	G	G	A	rs372166776		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr1:23769086G>A	ENST00000336689.3	-	6	537	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	ASAP3_ENST00000437606.2_Missense_Mutation_p.R156C	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	165					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.R165C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GCCCGATCGCGCTCCTTCTCC	0.597																																																	1	Substitution - Missense(1)	endometrium(1)						G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	68.0	62.0	64.0		466,493	1.9	1.0	1		64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ASAP3	NM_001143778.1,NM_017707.3	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	156/895,165/904	23769086	1,13005	2203	4300	6503	SO:0001583	missense	0			AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.493C>T	1.37:g.23769086G>A	ENSP00000338769:p.Arg165Cys		B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.R165C	ENST00000336689.3	37	c.493	CCDS235.1	1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218549	0.58560	0.0	1.16E-4	ENSG00000088280	ENST00000336689;ENST00000437606;ENST00000374579	T;T	0.05319	3.54;3.46	4.14	1.86	0.25419	.	0.000000	0.85682	D	0.000000	T	0.15262	0.0368	L	0.56769	1.78	0.44067	D	0.99681	D;D;D	0.76494	0.999;0.997;0.999	P;P;P	0.59703	0.862;0.772;0.732	T	0.00478	-1.1715	10	0.87932	D	0	.	10.5605	0.45142	0.0:0.0:0.4054:0.5946	.	156;34;165	Q8TDY4-3;B4DRP2;Q8TDY4	.;.;ASAP3_HUMAN	C	165;156;165	ENSP00000338769:R165C;ENSP00000408826:R156C	ENSP00000338769:R165C	R	-	1	0	ASAP3	23641673	1.000000	0.71417	0.997000	0.53966	0.685000	0.39939	3.562000	0.53777	0.327000	0.23409	0.306000	0.20318	CGC	ASAP3	-	NULL	ENSG00000088280		0.597	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP3	HGNC	protein_coding	OTTHUMT00000008916.2		0.00	39	0	G	NM_017707		23769086	-1			no_errors	ENST00000336689	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.999	A
ATP10D	57205	genome.wustl.edu	37	4	47560156	47560156	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr4:47560156T>G	ENST00000273859.3	+	12	2569	c.2300T>G	c.(2299-2301)cTa>cGa	p.L767R	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	767					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTTCAACTCCTACACATCCTG	0.483																																																	0													139.0	117.0	124.0					4																	47560156		2203	4300	6503	SO:0001583	missense	0			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2300T>G	4.37:g.47560156T>G	ENSP00000273859:p.Leu767Arg		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.L767R	ENST00000273859.3	37	c.2300	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	T	16.24	3.067164	0.55539	.	.	ENSG00000145246	ENST00000273859	D	0.83914	-1.78	5.14	5.14	0.70334	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.64402	D	0.000001	D	0.93035	0.7783	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94653	0.7841	10	0.87932	D	0	-9.342	14.2803	0.66208	0.0:0.0:0.0:1.0	.	767	Q9P241	AT10D_HUMAN	R	767	ENSP00000273859:L767R	ENSP00000273859:L767R	L	+	2	0	ATP10D	47254913	1.000000	0.71417	0.896000	0.35187	0.060000	0.15804	7.864000	0.87037	2.164000	0.68074	0.459000	0.35465	CTA	ATP10D	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000145246		0.483	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1	-	0.00	37	0	T	NM_020453		47560156	+1	tier1	-	no_errors	ENST00000273859	ensembl	human	known	74_37	missense	43.94	37	29	SNP	0.996	G
ATRNL1	26033	genome.wustl.edu	37	10	116931078	116931078	+	Intron	SNP	T	T	C			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr10:116931078T>C	ENST00000355044.3	+	8	1474				ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1						G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGTAATTTCTTTATTGATTGG	0.254																																																	0													56.0	61.0	59.0					10																	116931078		2201	4296	6497	SO:0001627	intron_variant	0			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1348+28T>C	10.37:g.116931078T>C			O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	RNA	SNP	-	NULL	ENST00000355044.3	37	NULL	CCDS7592.1	10																																																																																			ATRNL1	-	-	ENSG00000107518		0.254	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	-	0.00	27	0	T	XM_049349		116931078	+1	tier1	-	no_errors	ENST00000485327	ensembl	human	known	74_37	rna	15.56	38	7	SNP	0.000	C
BHLHE40	8553	genome.wustl.edu	37	3	5025110	5025110	+	Silent	SNP	C	C	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr3:5025110C>T	ENST00000256495.3	+	5	1575	c.972C>T	c.(970-972)ccC>ccT	p.P324P		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	324					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						TCTGCCTGCCCTTCTACCTGA	0.587																																																	0													170.0	129.0	143.0					3																	5025110		2203	4300	6503	SO:0001819	synonymous_variant	0			AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"""Basic helix-loop-helix proteins"""	1046	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 1"", "" differentiated embryo chondrocyte expressed gene 1"""	604256	"""basic helix-loop-helix domain containing, class B, 2"""	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.972C>T	3.37:g.5025110C>T			Q96TD3	Silent	SNP	pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom	p.P324	ENST00000256495.3	37	c.972	CCDS2565.1	3																																																																																			BHLHE40	-	NULL	ENSG00000134107		0.587	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHE40	HGNC	protein_coding	OTTHUMT00000239244.2		0.00	57	0	C	NM_003670		5025110	+1			no_errors	ENST00000256495	ensembl	human	known	74_37	silent	5.36	53	3	SNP	1.000	T
BPTF	2186	genome.wustl.edu	37	17	65955782	65955783	+	In_Frame_Ins	INS	-	-	GCC	rs60308484		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr17:65955782_65955783insGCC	ENST00000321892.4	+	26	8491_8492	c.8430_8431insGCC	c.(8431-8433)cct>GCCcct	p.2810_2811insA	BPTF_ENST00000306378.6_In_Frame_Ins_p.2684_2685insA|BPTF_ENST00000424123.3_In_Frame_Ins_p.2528_2529insA|BPTF_ENST00000335221.5_In_Frame_Ins_p.2667_2668insA			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2810	Pro-rich.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			cagcccctccaCCTTCACCTCC	0.589																																																	0																																										SO:0001652	inframe_insertion	0			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	Exception_encountered	17.37:g.65955782_65955783insGCC	ENSP00000315454:p.Pro2810_Pro2811insAla		Q6NX67|Q7Z7D6|Q9UIG2	In_Frame_Ins	INS	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.2810in_frame_insA	ENST00000321892.4	37	c.8430_8431		17																																																																																			BPTF	-	superfamily_Bromodomain	ENSG00000171634		0.589	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding			0.00	30	0	-	NM_182641, NM_004459		65955783	+1	tier1		no_errors	ENST00000321892	ensembl	human	known	74_37	in_frame_ins	11.90	37	5	INS	0.069:0.577	GCC
CAMKK1	84254	genome.wustl.edu	37	17	3786462	3786462	+	Silent	SNP	A	A	G			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr17:3786462A>G	ENST00000348335.2	-	6	670	c.522T>C	c.(520-522)ccT>ccC	p.P174P	CAMKK1_ENST00000158166.5_Silent_p.P174P|CAMKK1_ENST00000381769.2_Silent_p.P201P|CAMKK1_ENST00000381771.2_Silent_p.P174P	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	174	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|RP domain.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CTCTCGGGGGAGGGCGACCTG	0.632																																																	0													59.0	59.0	59.0					17																	3786462		2203	4300	6503	SO:0001819	synonymous_variant	0			AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.522T>C	17.37:g.3786462A>G			Q9BQH3	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P174	ENST00000348335.2	37	c.522	CCDS11038.1	17																																																																																			CAMKK1	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000004660		0.632	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKK1	HGNC	protein_coding	OTTHUMT00000207456.1	-	0.00	39	0	A	NM_032294, NM_172206, NM_172207		3786462	-1	tier1	-	no_errors	ENST00000381771	ensembl	human	known	74_37	silent	8.16	45	4	SNP	1.000	G
CC2D1A	54862	genome.wustl.edu	37	19	14034533	14034533	+	Missense_Mutation	SNP	A	A	C			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr19:14034533A>C	ENST00000318003.7	+	17	2090	c.1849A>C	c.(1849-1851)Aag>Cag	p.K617Q	CC2D1A_ENST00000589606.1_Missense_Mutation_p.K617Q	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	617					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|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 negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGAGGACTGTAAGCGGAGCAT	0.622																																																	0													75.0	84.0	81.0					19																	14034533		2013	4179	6192	SO:0001583	missense	0			AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1849A>C	19.37:g.14034533A>C	ENSP00000313601:p.Lys617Gln		Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom	p.K617Q	ENST00000318003.7	37	c.1849	CCDS42512.1	19	.	.	.	.	.	.	.	.	.	.	A	17.22	3.333088	0.60853	.	.	ENSG00000132024	ENST00000318003;ENST00000254346	T	0.29397	1.57	4.64	4.64	0.57946	.	0.330816	0.29653	N	0.011549	T	0.25938	0.0632	L	0.33189	0.99	0.35113	D	0.766288	B;B;B	0.30361	0.075;0.277;0.215	B;B;B	0.32928	0.041;0.155;0.101	T	0.36187	-0.9758	10	0.44086	T	0.13	-14.4132	13.1043	0.59239	1.0:0.0:0.0:0.0	.	239;617;617	Q9NX28;Q6P1N0-2;Q6P1N0	.;.;C2D1A_HUMAN	Q	617;240	ENSP00000313601:K617Q	ENSP00000254346:K240Q	K	+	1	0	CC2D1A	13895533	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	8.162000	0.89657	1.738000	0.51689	0.454000	0.30748	AAG	CC2D1A	-	NULL	ENSG00000132024		0.622	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	CC2D1A	HGNC	protein_coding	OTTHUMT00000457954.1	-	0.00	40	0	A	NM_017721		14034533	+1	tier1	-	no_errors	ENST00000318003	ensembl	human	known	74_37	missense	53.45	27	31	SNP	1.000	C
CCDC18	343099	genome.wustl.edu	37	1	93722013	93722013	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr1:93722013G>A	ENST00000343253.7	+	25	3963	c.3461G>A	c.(3460-3462)cGt>cAt	p.R1154H	CCDC18_ENST00000557479.1_Missense_Mutation_p.R1273H|CCDC18_ENST00000338949.4_3'UTR|CCDC18_ENST00000334652.5_3'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.R1155H			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	1154										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GCAGAGGCTCGTCATCAGCAA	0.453																																																	0													103.0	103.0	103.0					1																	93722013		1919	4110	6029	SO:0001583	missense	0					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.3461G>A	1.37:g.93722013G>A	ENSP00000343377:p.Arg1154His		Q6ZU17	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.R1273H	ENST00000343253.7	37	c.3818		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.90|12.90	2.075397|2.075397	0.36662|0.36662	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479|ENST00000370276	.|.	.|.	.|.	5.31|5.31	2.32|2.32	0.28847|0.28847	.|.	0.340340|.	0.31673|.	N|.	0.007250|.	T|T	0.42131|0.42131	0.1189|0.1189	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	B;B|.	0.26902|.	0.035;0.163|.	B;B|.	0.20384|.	0.016;0.029|.	T|T	0.26677|0.26677	-1.0096|-1.0096	9|5	0.45353|.	T|.	0.12|.	.|.	9.127|9.127	0.36821|0.36821	0.2232:0.0:0.7768:0.0|0.2232:0.0:0.7768:0.0	.|.	73;1273|.	Q5T9S4;G3V388|.	.;.|.	H|I	1154;1155;1273|1208	.|.	ENSP00000343377:R1154H|.	R|V	+|+	2|1	0|0	CCDC18|CCDC18	93494601|93494601	0.768000|0.768000	0.28519|0.28519	0.975000|0.975000	0.42487|0.42487	0.708000|0.708000	0.40852|0.40852	0.210000|0.210000	0.17455|0.17455	0.204000|0.204000	0.20548|0.20548	-0.302000|-0.302000	0.09304|0.09304	CGT|GTC	CCDC18	-	NULL	ENSG00000122483		0.453	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	CCDC18	HGNC	protein_coding	OTTHUMT00000382327.1	-	0.00	50	0	G	NM_206886		93722013	+1	tier1	-	no_errors	ENST00000557479	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.962	A
CDK5RAP2	55755	genome.wustl.edu	37	9	123199725	123199725	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr9:123199725A>G	ENST00000349780.4	-	25	3982	c.3803T>C	c.(3802-3804)gTc>gCc	p.V1268A	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.V1227A|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.V1268A|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.V1236A	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1268					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						ACGGGAGATGACACAGATGCC	0.498																																																	0													170.0	142.0	152.0					9																	123199725		2203	4300	6503	SO:0001583	missense	0			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.3803T>C	9.37:g.123199725A>G	ENSP00000343818:p.Val1268Ala		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	pfam_Spindle_assoc	p.V1268A	ENST00000349780.4	37	c.3803	CCDS6823.1	9	.	.	.	.	.	.	.	.	.	.	A	14.61	2.586194	0.46110	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T;T	0.24538	3.81;3.74;3.84;3.74;2.14;1.85	5.86	5.86	0.93980	.	0.000000	0.56097	D	0.000036	T	0.45357	0.1338	L	0.61036	1.89	0.28511	N	0.913535	B;P;P;D;P;P	0.76494	0.394;0.865;0.865;0.999;0.787;0.537	B;B;B;D;B;B	0.81914	0.132;0.421;0.421;0.995;0.241;0.391	T	0.44019	-0.9355	10	0.42905	T	0.14	.	10.6014	0.45369	0.8872:0.0:0.1128:0.0	.	278;1037;1236;1268;1268;662	Q5JTU8;Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;.;CK5P2_HUMAN;.	A	1236;1227;1268;1268;662;278;1040	ENSP00000354065:V1236A;ENSP00000352258:V1227A;ENSP00000343818:V1268A;ENSP00000353317:V1268A;ENSP00000400395:V662A;ENSP00000409941:V278A	ENSP00000341695:V1040A	V	-	2	0	CDK5RAP2	122239546	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	1.470000	0.35354	2.367000	0.80283	0.528000	0.53228	GTC	CDK5RAP2	-	NULL	ENSG00000136861		0.498	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	-	0.00	81	0	A	NM_018249		123199725	-1	tier1	-	no_errors	ENST00000349780	ensembl	human	known	74_37	missense	13.64	133	21	SNP	1.000	G
CHADL	150356	genome.wustl.edu	37	22	41631181	41631181	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr22:41631181G>T	ENST00000216241.9	-	5	2282	c.2230C>A	c.(2230-2232)Ccc>Acc	p.P744T		NM_138481.1	NP_612490.1	Q6NUI6	CHADL_HUMAN	chondroadherin-like	744						proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(1)|skin(1)	4						CCTTTGATGGGGGTTCTCCTG	0.622																																																	0													53.0	55.0	54.0					22																	41631181		692	1591	2283	SO:0001583	missense	0			BC012882	CCDS46715.1	22q13.2	2008-10-31			ENSG00000100399	ENSG00000100399			25165	protein-coding gene	gene with protein product						12477932	Standard	NM_138481		Approved	SLRR4B	uc003azq.4	Q6NUI6	OTTHUMG00000150936	ENST00000216241.9:c.2230C>A	22.37:g.41631181G>T	ENSP00000216241:p.Pro744Thr		Q05CY2|Q4G0S0|Q5JY13|Q86XY1|Q96E60	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.P744T	ENST00000216241.9	37	c.2230	CCDS46715.1	22	.	.	.	.	.	.	.	.	.	.	G	11.13	1.546823	0.27652	.	.	ENSG00000100399	ENST00000216241;ENST00000455425	T;T	0.64085	0.29;-0.08	5.34	-3.66	0.04489	.	1.809800	0.02542	N	0.094717	T	0.49406	0.1555	M	0.63428	1.95	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.13407	0.009;0.004	T	0.33929	-0.9849	10	0.02654	T	1	.	2.8933	0.05682	0.4513:0.194:0.256:0.0987	.	668;744	Q6NUI6-2;Q6NUI6	.;CHADL_HUMAN	T	744;241	ENSP00000216241:P744T;ENSP00000412359:P241T	ENSP00000216241:P744T	P	-	1	0	CHADL	39961127	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	0.281000	0.18810	-0.804000	0.04410	-1.007000	0.02485	CCC	CHADL	-	NULL	ENSG00000100399		0.622	CHADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHADL	HGNC	protein_coding	OTTHUMT00000320597.1	-	0.00	46	0	G	NM_138481		41631181	-1	tier1	-	no_errors	ENST00000216241	ensembl	human	known	74_37	missense	9.33	68	7	SNP	0.000	T
CNDP2	55748	genome.wustl.edu	37	18	72183588	72183588	+	Silent	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr18:72183588G>A	ENST00000324262.4	+	9	1345	c.1029G>A	c.(1027-1029)agG>agA	p.R343R	CNDP2_ENST00000324301.8_Silent_p.R259R|CNDP2_ENST00000579847.1_Silent_p.R343R	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	343					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		TCTCCATCAGGCTCGTGCCGA	0.627																																																	0													107.0	81.0	90.0					18																	72183588		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.1029G>A	18.37:g.72183588G>A			B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Silent	SNP	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1	p.R343	ENST00000324262.4	37	c.1029	CCDS12006.1	18																																																																																			CNDP2	-	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1	ENSG00000133313		0.627	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNDP2	HGNC	protein_coding	OTTHUMT00000256327.1	-	0.00	58	0	G	NM_018235		72183588	+1	tier1	-	no_errors	ENST00000324262	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.017	A
COL20A1	57642	genome.wustl.edu	37	20	61947988	61947988	+	Missense_Mutation	SNP	G	G	T	rs376634286		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr20:61947988G>T	ENST00000358894.6	+	21	2708	c.2608G>T	c.(2608-2610)Ggt>Tgt	p.G870C	COL20A1_ENST00000422202.1_Missense_Mutation_p.G877C|COL20A1_ENST00000326996.6_Missense_Mutation_p.G870C|COL20A1_ENST00000435874.1_Missense_Mutation_p.G877C	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	870	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTCTGCCTTCGGTGGGACCCC	0.647																																																	0													27.0	31.0	30.0					20																	61947988		2012	4143	6155	SO:0001583	missense	0			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.2608G>T	20.37:g.61947988G>T	ENSP00000351767:p.Gly870Cys		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.G870C	ENST00000358894.6	37	c.2608	CCDS46628.1	20	.	.	.	.	.	.	.	.	.	.	G	13.29	2.191585	0.38707	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.02552	4.25;4.25;4.25;4.25	4.22	3.13	0.36017	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.168436	0.50627	D	0.000119	T	0.07728	0.0194	L	0.53249	1.67	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.71656	0.974;0.942	T	0.13980	-1.0489	10	0.59425	D	0.04	.	3.2282	0.06739	0.1862:0.28:0.5338:0.0	.	877;870	Q9P218-2;Q9P218	.;COKA1_HUMAN	C	870;870;877;877	ENSP00000351767:G870C;ENSP00000323077:G870C;ENSP00000408690:G877C;ENSP00000414753:G877C	ENSP00000323077:G870C	G	+	1	0	COL20A1	61418433	0.775000	0.28604	0.019000	0.16419	0.369000	0.29798	2.278000	0.43426	1.922000	0.55676	0.289000	0.19496	GGT	COL20A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000101203		0.647	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2	-	0.00	85	0	G	NM_020882		61947988	+1	tier1	-	no_errors	ENST00000326996	ensembl	human	known	74_37	missense	33.33	52	26	SNP	0.015	T
CTAGE9	643854	genome.wustl.edu	37	6	132031717	132031717	+	Silent	SNP	G	G	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr6:132031717G>T	ENST00000314099.8	-	1	489	c.441C>A	c.(439-441)ctC>ctA	p.L147L	ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000414305.1_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	147						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						TTTCTAGACAGAGGATTTCAT	0.403																																																	0													8.0	6.0	7.0					6																	132031717		661	1509	2170	SO:0001819	synonymous_variant	0				CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.441C>A	6.37:g.132031717G>T				Silent	SNP	NULL	p.L147	ENST00000314099.8	37	c.441	CCDS47475.1	6																																																																																			CTAGE9	-	NULL	ENSG00000236761		0.403	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTAGE9	HGNC	protein_coding	OTTHUMT00000109220.1	-	0.00	127	0	G	NM_001145659		132031717	-1	tier1	-	no_errors	ENST00000314099	ensembl	human	known	74_37	silent	25.44	85	29	SNP	0.007	T
CTGF	1490	genome.wustl.edu	37	6	132271549	132271549	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr6:132271549G>T	ENST00000367976.3	-	3	624	c.424C>A	c.(424-426)Cgt>Agt	p.R142S	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	142	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)	p.R142C(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		CTGGGCAGACGAACGTCCATG	0.652											OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(127;510 1660 12817 24400 38449)												1	Substitution - Missense(1)	lung(1)											67.0	63.0	65.0					6																	132271549		2203	4300	6503	SO:0001583	missense	0			X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.424C>A	6.37:g.132271549G>T	ENSP00000356954:p.Arg142Ser	1594	E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Missense_Mutation	SNP	pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.R142S	ENST00000367976.3	37	c.424	CCDS5151.1	6	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577358	0.45902	.	.	ENSG00000118523	ENST00000367976	T	0.78595	-1.19	5.48	3.63	0.41609	von Willebrand factor, type C (4);	0.109676	0.64402	D	0.000008	T	0.58991	0.2161	L	0.28115	0.83	0.52099	D	0.999941	D	0.57571	0.98	P	0.54460	0.753	T	0.64765	-0.6330	10	0.02654	T	1	.	15.7037	0.77560	0.0:0.2595:0.7405:0.0	.	142	P29279	CTGF_HUMAN	S	142	ENSP00000356954:R142S	ENSP00000356954:R142S	R	-	1	0	CTGF	132313242	1.000000	0.71417	0.759000	0.31340	0.989000	0.77384	6.085000	0.71343	0.627000	0.30340	0.561000	0.74099	CGT	CTGF	-	pfam_VWF_C,smart_VWF_C,pirsf_IGFBP_CNN,pfscan_VWF_C	ENSG00000118523		0.652	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTGF	HGNC	protein_coding	OTTHUMT00000042239.2	-	0.00	40	0	G	NM_001901		132271549	-1	tier1	-	no_errors	ENST00000367976	ensembl	human	known	74_37	missense	56.67	13	17	SNP	0.945	T
CYP11A1	1583	genome.wustl.edu	37	15	74653949	74653949	+	Intron	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr15:74653949G>A	ENST00000268053.6	-	1	424				CTD-2311M21.2_ENST00000562009.1_RNA|CYP11A1_ENST00000541301.1_Intron|CYP11A1_ENST00000467407.1_5'UTR|CYP11A1_ENST00000358632.4_Intron|CYP11A1_ENST00000419019.2_Intron	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1						biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	CTTGGGTCACGTCTCCTTTGA	0.512																																					Esophageal Squamous(87;818 1337 4093 9268 37314)												0																																										SO:0001627	intron_variant	0			AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.269+5708C>T	15.37:g.74653949G>A			A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	RNA	SNP	-	NULL	ENST00000268053.6	37	NULL	CCDS32291.1	15																																																																																			CYP11A1	-	-	ENSG00000140459		0.512	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11A1	HGNC	protein_coding	OTTHUMT00000319737.1	-	0.00	40	0	G			74653949	-1	tier1	-	no_errors	ENST00000467407	ensembl	human	known	74_37	rna	5.97	63	4	SNP	0.938	A
DAZAP2	9802	genome.wustl.edu	37	12	51634874	51634874	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr12:51634874G>A	ENST00000412716.3	+	3	968	c.352G>A	c.(352-354)Gct>Act	p.A118T	DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000439799.2_Intron|DAZAP2_ENST00000549555.1_Intron|DAZAP2_ENST00000604900.1_Missense_Mutation_p.A118T|DAZAP2_ENST00000549732.2_Missense_Mutation_p.A86T|DAZAP2_ENST00000551313.1_Missense_Mutation_p.A58T|DAZAP2_ENST00000449723.3_Missense_Mutation_p.A96T|DAZAP2_ENST00000425012.2_Missense_Mutation_p.A118T			Q15038	DAZP2_HUMAN	DAZ associated protein 2	118	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	WW domain binding (GO:0050699)			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						CAGATTTGGAGCTGGGGCTAC	0.473																																																	0													88.0	80.0	83.0					12																	51634874		2203	4300	6503	SO:0001583	missense	0			D31767	CCDS8809.1, CCDS44884.1, CCDS44885.1, CCDS44886.1, CCDS44887.1, CCDS44888.1	12q13.13	2012-04-04			ENSG00000183283	ENSG00000183283			2684	protein-coding gene	gene with protein product		607431				10857750, 7584044	Standard	NM_014764		Approved	KIAA0058	uc010snd.2	Q15038	OTTHUMG00000169649	ENST00000412716.3:c.352G>A	12.37:g.51634874G>A	ENSP00000394699:p.Ala118Thr		A8K254|B4DDT5|B4E1G3|C9JA96|C9JP84|E9PB45|F8VU62	Missense_Mutation	SNP	pfam_DAZ_assoc-2	p.A118T	ENST00000412716.3	37	c.352	CCDS8809.1	12	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609034	0.87258	.	.	ENSG00000183283	ENST00000412716;ENST00000425012;ENST00000549732;ENST00000449723;ENST00000551313	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	4.13	4.13	0.48395	.	0.118043	0.56097	D	0.000032	T	0.50205	0.1602	L	0.29908	0.895	0.36705	D	0.880318	P;D;D	0.69078	0.951;0.991;0.997	P;D;D	0.77004	0.731;0.945;0.989	T	0.49000	-0.8984	10	0.21540	T	0.41	.	16.3716	0.83364	0.0:0.0:1.0:0.0	.	118;86;118	B4DDT5;C9JP84;Q15038	.;.;DAZP2_HUMAN	T	118;118;86;96;58	ENSP00000394699:A118T;ENSP00000408251:A118T;ENSP00000446554:A86T;ENSP00000412812:A96T;ENSP00000447842:A58T	ENSP00000394699:A118T	A	+	1	0	DAZAP2	49921141	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.472000	0.60189	2.589000	0.87451	0.655000	0.94253	GCT	DAZAP2	-	pfam_DAZ_assoc-2	ENSG00000183283		0.473	DAZAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAZAP2	HGNC	protein_coding	OTTHUMT00000405259.2	-	0.00	76	0	G	NM_014764		51634874	+1	tier1	-	no_errors	ENST00000412716	ensembl	human	known	74_37	missense	15.32	94	17	SNP	1.000	A
DCAF4L1	285429	genome.wustl.edu	37	4	41984513	41984513	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr4:41984513C>T	ENST00000333141.5	+	1	801	c.704C>T	c.(703-705)aCg>aTg	p.T235M		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	235										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TTTGCTAGTACGGCTCCTTTG	0.562																																																	0													157.0	152.0	154.0					4																	41984513		2203	4300	6503	SO:0001583	missense	0			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.704C>T	4.37:g.41984513C>T	ENSP00000327796:p.Thr235Met		B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T235M	ENST00000333141.5	37	c.704	CCDS33978.1	4	.	.	.	.	.	.	.	.	.	.	C	2.953	-0.216376	0.06101	.	.	ENSG00000182308	ENST00000333141	T	0.19806	2.12	0.688	-1.02	0.10135	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.054160	0.07227	N	0.861930	T	0.07188	0.0182	N	0.03324	-0.35	0.09310	N	1	B	0.21071	0.051	B	0.04013	0.001	T	0.34601	-0.9822	10	0.20519	T	0.43	.	2.3984	0.04395	0.3222:0.354:0.3237:0.0	.	235	Q3SXM0	DC4L1_HUMAN	M	235	ENSP00000327796:T235M	ENSP00000327796:T235M	T	+	2	0	DCAF4L1	41679270	0.979000	0.34478	0.020000	0.16555	0.031000	0.12232	1.332000	0.33805	-0.381000	0.07882	0.313000	0.20887	ACG	DCAF4L1	-	superfamily_WD40_repeat_dom	ENSG00000182308		0.562	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L1	HGNC	protein_coding	OTTHUMT00000360958.1		0.00	35	0	C	NM_001029955		41984513	+1			no_errors	ENST00000333141	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.151	T
DDHD1	80821	genome.wustl.edu	37	14	53570521	53570521	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr14:53570521G>A	ENST00000323669.5	-	2	891	c.892C>T	c.(892-894)Cag>Tag	p.Q298*	DDHD1_ENST00000395606.1_Nonsense_Mutation_p.Q298*|DDHD1_ENST00000357758.3_Nonsense_Mutation_p.Q298*	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	298					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TCTAGAGGCTGCCAAGTGCCG	0.368																																																	0													74.0	68.0	70.0					14																	53570521		2203	4300	6503	SO:0001587	stop_gained	0			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.892C>T	14.37:g.53570521G>A	ENSP00000327104:p.Gln298*		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Nonsense_Mutation	SNP	pfam_DDHD,pfscan_DDHD	p.Q298*	ENST00000323669.5	37	c.892	CCDS53895.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.760772	0.96906	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610;ENST00000556910	.	.	.	5.26	5.26	0.73747	.	0.063178	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-14.8488	19.2282	0.93825	0.0:0.0:1.0:0.0	.	.	.	.	X	298;298;298;169;12	.	ENSP00000327104:Q298X	Q	-	1	0	DDHD1	52640271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.257000	0.58816	2.621000	0.88768	0.591000	0.81541	CAG	DDHD1	-	NULL	ENSG00000100523		0.368	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	DDHD1	HGNC	protein_coding	OTTHUMT00000276901.1		0.00	72	0	G			53570521	-1			no_errors	ENST00000323669	ensembl	human	known	74_37	nonsense	5.56	102	6	SNP	1.000	A
DNAH6	1768	genome.wustl.edu	37	2	84775508	84775508	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr2:84775508C>T	ENST00000237449.6	+	7	1291	c.1283C>T	c.(1282-1284)gCc>gTc	p.A428V	DNAH6_ENST00000398278.2_Missense_Mutation_p.A428V|DNAH6_ENST00000389394.3_Missense_Mutation_p.A428V			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	428	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)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ACAGAACAGGCCAGCAAAAGG	0.368																																																	0													126.0	124.0	124.0					2																	84775508		2203	4300	6503	SO:0001583	missense	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1283C>T	2.37:g.84775508C>T	ENSP00000237449:p.Ala428Val		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A428V	ENST00000237449.6	37	c.1283	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044860	0.93685	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.33438	1.41;1.49;1.41	5.44	5.44	0.79542	.	0.000000	0.50627	D	0.000113	T	0.56352	0.1979	M	0.74258	2.255	0.45962	D	0.998784	D;D	0.89917	0.997;1.0	D;D	0.74674	0.973;0.984	T	0.59590	-0.7426	10	0.72032	D	0.01	.	16.1753	0.81845	0.0:1.0:0.0:0.0	.	428;7	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	V	428	ENSP00000374045:A428V;ENSP00000381326:A428V;ENSP00000237449:A428V	ENSP00000237449:A428V	A	+	2	0	DNAH6	84629019	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.107000	0.64603	2.543000	0.85770	0.591000	0.81541	GCC	DNAH6	-	NULL	ENSG00000115423		0.368	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	-	0.00	37	0	C	NM_001370		84775508	+1	tier1	-	no_errors	ENST00000237449	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T
DOT1L	84444	genome.wustl.edu	37	19	2213592	2213592	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr19:2213592G>A	ENST00000398665.3	+	17	1648	c.1612G>A	c.(1612-1614)Gcc>Acc	p.A538T	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	538					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACTGCCAGGCCCAGAAGGA	0.627																																																	0													55.0	59.0	58.0					19																	2213592		2024	4167	6191	SO:0001583	missense	0			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1612G>A	19.37:g.2213592G>A	ENSP00000381657:p.Ala538Thr		O60379|Q96JL1	Missense_Mutation	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.A538T	ENST00000398665.3	37	c.1612	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153605	0.78114	.	.	ENSG00000104885	ENST00000398665;ENST00000221482	T	0.24350	1.86	4.76	3.73	0.42828	.	0.056211	0.64402	D	0.000001	T	0.34542	0.0901	M	0.66939	2.045	0.41532	D	0.988468	P	0.49253	0.921	P	0.47786	0.557	T	0.25916	-1.0118	10	0.87932	D	0	-19.5899	11.8237	0.52254	0.0856:0.0:0.9144:0.0	.	538	Q8TEK3-2	.	T	538	ENSP00000381657:A538T	ENSP00000221482:A538T	A	+	1	0	DOT1L	2164592	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.219000	0.58561	0.993000	0.38866	0.561000	0.74099	GCC	DOT1L	-	pirsf_Histone_H3-K79_MeTrfase_met	ENSG00000104885		0.627	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	-	0.00	47	0	G	NM_032482		2213592	+1	tier1	-	no_errors	ENST00000398665	ensembl	human	known	74_37	missense	55.17	26	32	SNP	1.000	A
DRD2	1813	genome.wustl.edu	37	11	113295289	113295289	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr11:113295289C>T	ENST00000362072.3	-	2	429	c.85G>A	c.(85-87)Gcg>Acg	p.A29T	DRD2_ENST00000542968.1_Missense_Mutation_p.A29T|DRD2_ENST00000355319.2_Missense_Mutation_p.A29T|DRD2_ENST00000538967.1_Missense_Mutation_p.A29T|DRD2_ENST00000544518.1_Missense_Mutation_p.A29T|DRD2_ENST00000346454.3_Missense_Mutation_p.A29T|DRD2_ENST00000535984.1_5'Flank	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	29					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GGTCTGTCCGCCTTCCCGTCT	0.587																																																	0													221.0	172.0	188.0					11																	113295289		2201	4296	6497	SO:0001583	missense	0			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.85G>A	11.37:g.113295289C>T	ENSP00000354859:p.Ala29Thr		Q9NZR3|Q9UPA9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.A29T	ENST00000362072.3	37	c.85	CCDS8361.1	11	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522393	0.27211	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967;ENST00000543292	T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23	5.73	0.522	0.17053	.	0.861988	0.10405	N	0.678699	T	0.15998	0.0385	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.001;0.001;0.001	T	0.32693	-0.9897	10	0.11794	T	0.64	.	7.6127	0.28139	0.0:0.3877:0.4025:0.2098	.	29;29;29;29	F8VUV1;P14416-3;P14416-2;P14416	.;.;.;DRD2_HUMAN	T	29	ENSP00000347474:A29T;ENSP00000278597:A29T;ENSP00000354859:A29T;ENSP00000441068:A29T;ENSP00000442172:A29T;ENSP00000438215:A29T;ENSP00000438419:A29T	ENSP00000278597:A29T	A	-	1	0	DRD2	112800499	0.002000	0.14202	0.018000	0.16275	0.882000	0.50991	1.276000	0.33156	0.066000	0.16515	0.561000	0.74099	GCG	DRD2	-	NULL	ENSG00000149295		0.587	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRD2	HGNC	protein_coding	OTTHUMT00000395834.1	-	0.00	57	0	C	NM_000795		113295289	-1	tier1	-	no_errors	ENST00000355319	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.000	T
DSCAM	1826	genome.wustl.edu	37	21	41414321	41414321	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr21:41414321G>A	ENST00000400454.1	-	32	6140	c.5663C>T	c.(5662-5664)gCa>gTa	p.A1888V		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1888					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTTGGAACTGCCATATTCAT	0.572																																					Melanoma(134;970 1778 1785 21664 32388)												0													71.0	71.0	71.0					21																	41414321		2010	4153	6163	SO:0001583	missense	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5663C>T	21.37:g.41414321G>A	ENSP00000383303:p.Ala1888Val		O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A1888V	ENST00000400454.1	37	c.5663	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	g	34	5.342163	0.95783	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.68181	-0.31;-0.14	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.75686	0.3883	L	0.32530	0.975	0.58432	D	0.999994	D	0.69078	0.997	D	0.75020	0.985	T	0.78001	-0.2375	10	0.87932	D	0	.	19.4658	0.94939	0.0:0.0:1.0:0.0	.	1888	O60469	DSCAM_HUMAN	V	1888;1640	ENSP00000383303:A1888V;ENSP00000385342:A1640V	ENSP00000383303:A1888V	A	-	2	0	DSCAM	40336191	1.000000	0.71417	0.957000	0.39632	0.997000	0.91878	9.751000	0.98889	2.599000	0.87857	0.655000	0.94253	GCA	DSCAM	-	NULL	ENSG00000171587		0.572	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	-	0.00	37	0	G	NM_001389		41414321	-1	tier1	-	no_errors	ENST00000400454	ensembl	human	known	74_37	missense	64.86	13	24	SNP	1.000	A
EDDM3B	64184	genome.wustl.edu	37	14	21238744	21238744	+	Silent	SNP	C	C	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr14:21238744C>T	ENST00000326783.3	+	2	533	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN	epididymal protein 3B	145						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						TAGAACCTATCGGCAACTAGA	0.448																																																	0													72.0	61.0	65.0					14																	21238744		2203	4300	6503	SO:0001819	synonymous_variant	0			X76386	CCDS9557.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181552	ENSG00000181552			19223	protein-coding gene	gene with protein product		611582	"""family with sequence similarity 12, member B (epididymal)"""	FAM12B		7514008	Standard	NM_022360		Approved	HE3-BETA	uc001vyd.3	P56851	OTTHUMG00000029583	ENST00000326783.3:c.435C>T	14.37:g.21238744C>T			A0PK89	Silent	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain	p.I145	ENST00000326783.3	37	c.435	CCDS9557.1	14																																																																																			EDDM3B	-	NULL	ENSG00000181552		0.448	EDDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDDM3B	HGNC	protein_coding	OTTHUMT00000073745.2		0.00	25	0	C			21238744	+1			no_errors	ENST00000326783	ensembl	human	known	74_37	silent	8.62	53	5	SNP	0.001	T
UPK3B	80761	genome.wustl.edu	37	7	76642996	76642997	+	Intron	DNP	TG	TG	CA			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T|G	T|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr7:76642996_76642997TG>CA	ENST00000419923.2	+	6	1408				DTX2P1-UPK3BP1-PMS2P11_ENST00000584900.1_RNA|Y_RNA_ENST00000365015.1_RNA|UPK3B_ENST00000443097.2_Intron			Q9BT76	UPK3B_HUMAN	uroplakin 3B						negative regulation of gene expression (GO:0010629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				acttgactagTGTAAGGAAAAA	0.327																																																	0																																										SO:0001627	intron_variant	0			BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"""uroplakin IIIb"""	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	Exception_encountered	7.37:g.76642996_76642997delinsCA			A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	RNA	SNP	-	NULL	ENST00000419923.2	37	NULL	CCDS5588.1	7																																																																																			Y_RNA	-	-	ENSG00000201885		0.327	UPK3B-201	KNOWN	basic|CCDS	protein_coding	ENSG00000201885	RFAM	protein_coding		-	0.00	22|23	0	T|G	NM_030570		76642996|76642997	+1	tier1	-	no_errors	ENST00000365015	ensembl	human	novel	74_37	rna	20.00	24|23	6	SNP	0.004|0.003	C|A
CDC123	8872	genome.wustl.edu	37	10	12288997	12288997	+	Intron	SNP	C	C	T	rs111957661		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr10:12288997C>T	ENST00000281141.4	+	11	1126				CDC123_ENST00000455773.3_Intron|RP11-186N15.3_ENST00000421657.1_RNA|CDC123_ENST00000378900.2_Intron|RP11-186N15.3_ENST00000598961.1_RNA	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123						cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						CACTGTCCTCCTCTCTCACCT	0.607																																																	0																																										SO:0001627	intron_variant	0			BC001600	CCDS7090.1	10p13	2013-01-17	2013-01-17	2006-11-06	ENSG00000151465	ENSG00000151465			16827	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 7"", ""cell division cycle 123 homolog (S. cerevisiae)"""	C10orf7		15319434	Standard	NM_006023		Approved	D123	uc001ill.3	O75794	OTTHUMG00000017680	ENST00000281141.4:c.846+721C>T	10.37:g.12288997C>T			A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9	RNA	SNP	-	NULL	ENST00000281141.4	37	NULL	CCDS7090.1	10																																																																																			RP11-186N15.3	-	-	ENSG00000228302		0.607	CDC123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000228302	Clone_based_vega_gene	protein_coding	OTTHUMT00000046801.1	-	0.00	25	0	C	NM_006023		12288997	-1	tier1	rs111957661	no_errors	ENST00000421657	ensembl	human	known	74_37	rna	14.29	24	4	SNP	0.001	T
CDC123	8872	genome.wustl.edu	37	10	12289002	12289002	+	Intron	SNP	T	T	G	rs113024795		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr10:12289002T>G	ENST00000281141.4	+	11	1126				CDC123_ENST00000455773.3_Intron|RP11-186N15.3_ENST00000421657.1_RNA|CDC123_ENST00000378900.2_Intron|RP11-186N15.3_ENST00000598961.1_RNA	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123						cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						TCCTCCTCTCTCACCTCCCAC	0.612																																																	0																																										SO:0001627	intron_variant	0			BC001600	CCDS7090.1	10p13	2013-01-17	2013-01-17	2006-11-06	ENSG00000151465	ENSG00000151465			16827	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 7"", ""cell division cycle 123 homolog (S. cerevisiae)"""	C10orf7		15319434	Standard	NM_006023		Approved	D123	uc001ill.3	O75794	OTTHUMG00000017680	ENST00000281141.4:c.846+726T>G	10.37:g.12289002T>G			A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9	RNA	SNP	-	NULL	ENST00000281141.4	37	NULL	CCDS7090.1	10																																																																																			RP11-186N15.3	-	-	ENSG00000228302		0.612	CDC123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000228302	Clone_based_vega_gene	protein_coding	OTTHUMT00000046801.1	-	0.00	28	0	T	NM_006023		12289002	-1	tier1	rs113024795	no_errors	ENST00000421657	ensembl	human	known	74_37	rna	14.29	24	4	SNP	0.004	G
RP11-782C8.2	0	genome.wustl.edu	37	1	143207775	143207775	+	lincRNA	SNP	C	C	G			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr1:143207775C>G	ENST00000412204.2	-	0	1742				RP11-782C8.1_ENST00000438000.1_lincRNA																							GTGTCTCATCCAAATTAATGT	0.368																																																	0																																												0																															1.37:g.143207775C>G				RNA	SNP	-	NULL	ENST00000412204.2	37	NULL		1																																																																																			RP11-782C8.2	-	-	ENSG00000232274		0.368	RP11-782C8.2-004	KNOWN	basic	lincRNA	ENSG00000232274	Clone_based_vega_gene	lincRNA	OTTHUMT00000037567.2	-	0.00	141	0	C			143207775	-1	tier1	-	no_errors	ENST00000412204	ensembl	human	known	74_37	rna	6.63	155	11	SNP	0.613	G
RP11-574M7.1	0	genome.wustl.edu	37	11	50274618	50274618	+	RNA	SNP	G	G	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr11:50274618G>T	ENST00000528459.1	+	0	80																											AGCCAAGGCTGCACCGTACCA	0.418																																																	0																																												0																															11.37:g.50274618G>T				RNA	SNP	-	NULL	ENST00000528459.1	37	NULL		11																																																																																			RP11-574M7.1	-	-	ENSG00000254840		0.418	RP11-574M7.1-001	KNOWN	basic	processed_transcript	ENSG00000254840	Clone_based_vega_gene	pseudogene	OTTHUMT00000391116.1	-	0.00	44	0	G			50274618	+1	tier1	-	no_errors	ENST00000528459	ensembl	human	known	74_37	rna	20.83	19	5	SNP	0.990	T
F5	2153	genome.wustl.edu	37	1	169513654	169513654	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr1:169513654T>G	ENST00000367797.3	-	12	2056	c.1855A>C	c.(1855-1857)Aat>Cat	p.N619H	F5_ENST00000367796.3_Missense_Mutation_p.N624H	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	619	F5/8 type A 2.|Plastocyanin-like 4.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AAAATTTCATTCTGGGTCCCC	0.478																																																	0													93.0	84.0	87.0					1																	169513654		2203	4300	6503	SO:0001583	missense	0			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1855A>C	1.37:g.169513654T>G	ENSP00000356771:p.Asn619His		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.N619H	ENST00000367797.3	37	c.1855	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.067811	0.76301	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99764	-6.68;-6.68	5.83	1.82	0.25136	Cupredoxin (2);	0.255897	0.43919	D	0.000505	D	0.98541	0.9513	L	0.43152	1.355	0.20489	N	0.999895	D	0.56521	0.976	P	0.47744	0.556	D	0.97850	1.0274	9	0.54805	T	0.06	-10.6843	9.1184	0.36773	0.0:0.6922:0.0:0.3078	.	619	P12259	FA5_HUMAN	H	619;624	ENSP00000356771:N619H;ENSP00000356770:N624H	ENSP00000356770:N624H	N	-	1	0	F5	167780278	0.924000	0.31332	0.999000	0.59377	0.979000	0.70002	1.163000	0.31798	0.344000	0.23847	-0.242000	0.12053	AAT	F5	-	superfamily_Cupredoxin	ENSG00000198734		0.478	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	-	0.00	43	0	T	NM_000130		169513654	-1	tier1	-	no_errors	ENST00000367797	ensembl	human	known	74_37	missense	16.67	44	9	SNP	1.000	G
EXO1	9156	genome.wustl.edu	37	1	242015637	242015637	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr1:242015637C>A	ENST00000366548.3	+	5	798	c.205C>A	c.(205-207)Cat>Aat	p.H69N	EXO1_ENST00000348581.5_Missense_Mutation_p.H69N|EXO1_ENST00000518483.1_Missense_Mutation_p.H69N|EXO1_ENST00000493702.1_Intron	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	69	N-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GTTACTATCTCATGGGATCAA	0.318								Editing and processing nucleases																																									0													160.0	169.0	166.0					1																	242015637		2203	4300	6503	SO:0001583	missense	0			AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.205C>A	1.37:g.242015637C>A	ENSP00000355506:p.His69Asn		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2	p.H69N	ENST00000366548.3	37	c.205	CCDS1620.1	1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.257023	0.39896	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483;ENST00000450748	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	4.94	3.01	0.34805	XPG N-terminal (2);	0.223015	0.45361	D	0.000369	T	0.50069	0.1594	N	0.13352	0.335	0.24376	N	0.994814	D;D;P	0.58268	0.982;0.977;0.938	P;P;P	0.58970	0.849;0.765;0.693	T	0.32402	-0.9908	10	0.45353	T	0.12	-2.5421	6.8657	0.24093	0.0:0.6552:0.0:0.3448	.	69;69;69	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	N	69	ENSP00000355506:H69N;ENSP00000311873:H69N;ENSP00000430251:H69N;ENSP00000406652:H69N	ENSP00000311873:H69N	H	+	1	0	EXO1	240082260	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.169000	0.31871	1.066000	0.40716	0.467000	0.42956	CAT	EXO1	-	pfam_XPG_DNA_repair_N,smart_XPG_DNA_repair_N	ENSG00000174371		0.318	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXO1	HGNC	protein_coding	OTTHUMT00000096405.1	-	0.00	32	0	C	NM_006027		242015637	+1	tier1	-	no_errors	ENST00000348581	ensembl	human	known	74_37	missense	26.03	54	19	SNP	1.000	A
FAM230B	642633	genome.wustl.edu	37	22	21538275	21538275	+	RNA	SNP	C	C	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr22:21538275C>T	ENST00000451257.1	+	0	1261									family with sequence similarity 230, member B (non-protein coding)																		CCAACGAGGACGCCGCCCAGG	0.716																																																	0																																												0			BC039313, AK128837		22q11.21	2014-01-24	2014-01-06		ENSG00000215498	ENSG00000215498			32943	non-coding RNA	RNA, long non-coding			"""family with sequence similarity 230, member B"""				Standard	NR_108107		Approved	FLJ46366			OTTHUMG00000150782		22.37:g.21538275C>T				RNA	SNP	-	NULL	ENST00000451257.1	37	NULL		22																																																																																			FAM230B	-	-	ENSG00000215498		0.716	FAM230B-002	KNOWN	basic	lincRNA	FAM230B	HGNC	processed_transcript	OTTHUMT00000320063.1		0.00	39	0	C	NR_108107		21538275	+1			no_errors	ENST00000451257	ensembl	human	known	74_37	rna	9.76	37	4	SNP	0.000	T
FBXL4	26235	genome.wustl.edu	37	6	99322298	99322298	+	Silent	SNP	C	C	G	rs373647205		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr6:99322298C>G	ENST00000369244.2	-	10	2150	c.1722G>C	c.(1720-1722)ccG>ccC	p.P574P	FBXL4_ENST00000229971.1_Silent_p.P574P	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	574					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.P574P(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TTAAGGATGCCGGACTTACCA	0.348																																																	1	Substitution - coding silent(1)	endometrium(1)											103.0	107.0	105.0					6																	99322298		2203	4300	6503	SO:0001819	synonymous_variant	0			AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1722G>C	6.37:g.99322298C>G			B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Silent	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.P574	ENST00000369244.2	37	c.1722	CCDS5041.1	6																																																																																			FBXL4	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000112234		0.348	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL4	HGNC	protein_coding	OTTHUMT00000041587.2	-	0.00	12	0	C			99322298	-1	tier1	-	no_errors	ENST00000229971	ensembl	human	known	74_37	silent	30.43	16	7	SNP	0.002	G
FBXO34	55030	genome.wustl.edu	37	14	55819192	55819192	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr14:55819192A>T	ENST00000313833.4	+	2	2329	c.2084A>T	c.(2083-2085)aAt>aTt	p.N695I	FBXO34_ENST00000440021.1_Missense_Mutation_p.N695I	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	695										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CACAGCTTTAATCGGGCAATC	0.493																																																	0													36.0	37.0	37.0					14																	55819192		2203	4300	6503	SO:0001583	missense	0			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.2084A>T	14.37:g.55819192A>T	ENSP00000313159:p.Asn695Ile		Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	superfamily_F-box_dom,pfscan_F-box_dom	p.N695I	ENST00000313833.4	37	c.2084	CCDS32086.1	14	.	.	.	.	.	.	.	.	.	.	A	11.63	1.697432	0.30142	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.23147	1.92;1.92	6.17	3.7	0.42460	.	0.388472	0.24312	N	0.039623	T	0.45013	0.1321	M	0.71581	2.175	0.58432	D	0.999991	D	0.76494	0.999	D	0.70016	0.967	T	0.39099	-0.9630	10	0.62326	D	0.03	.	9.0386	0.36302	0.7992:0.1287:0.0721:0.0	.	695	Q9NWN3	FBX34_HUMAN	I	695	ENSP00000313159:N695I;ENSP00000394117:N695I	ENSP00000313159:N695I	N	+	2	0	FBXO34	54888945	1.000000	0.71417	0.968000	0.41197	0.013000	0.08279	5.085000	0.64468	2.371000	0.80710	0.533000	0.62120	AAT	FBXO34	-	NULL	ENSG00000178974		0.493	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO34	HGNC	protein_coding	OTTHUMT00000411322.1	-	0.00	45	0	A			55819192	+1	tier1	-	no_errors	ENST00000313833	ensembl	human	known	74_37	missense	32.31	44	21	SNP	0.944	T
FLG	2312	genome.wustl.edu	37	1	152276849	152276849	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr1:152276849G>A	ENST00000368799.1	-	3	10548	c.10513C>T	c.(10513-10515)Cat>Tat	p.H3505Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3505	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCATGGTGATGCGACCATGAG	0.577									Ichthyosis																																								0													245.0	237.0	240.0					1																	152276849		2203	4297	6500	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10513C>T	1.37:g.152276849G>A	ENSP00000357789:p.His3505Tyr		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.H3505Y	ENST00000368799.1	37	c.10513	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	4.868	0.161288	0.09287	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	2.85	0.633	0.17712	.	.	.	.	.	T	0.01558	0.0050	L	0.40543	1.245	0.09310	N	1	D	0.61697	0.99	D	0.64877	0.93	T	0.50972	-0.8764	9	0.59425	D	0.04	.	3.5837	0.07963	0.1596:0.2651:0.5754:0.0	.	3505	P20930	FILA_HUMAN	Y	3505	ENSP00000357789:H3505Y	ENSP00000357789:H3505Y	H	-	1	0	FLG	150543473	.	.	0.000000	0.03702	0.008000	0.06430	.	.	0.528000	0.28580	0.398000	0.26397	CAT	FLG	-	pfam_Filaggrin	ENSG00000143631		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0.00	104	0	G	NM_002016		152276849	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	38.41	93	58	SNP	0.000	A
FNDC1	84624	genome.wustl.edu	37	6	159653096	159653096	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr6:159653096delG	ENST00000297267.9	+	11	1752	c.1552delG	c.(1552-1554)gggfs	p.G518fs	FNDC1_ENST00000340366.6_Frame_Shift_Del_p.G455fs	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	518					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGCTAATGGTGGGGCGCCCCG	0.562																																																	0													24.0	27.0	26.0					6																	159653096		1850	4102	5952	SO:0001589	frameshift_variant	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1552delG	6.37:g.159653096delG	ENSP00000297267:p.Gly518fs		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.A519fs	ENST00000297267.9	37	c.1552	CCDS47512.1	6																																																																																			FNDC1	-	NULL	ENSG00000164694		0.562	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3		0.00	56	0	G	NM_032532		159653096	+1	tier1		no_errors	ENST00000297267	ensembl	human	known	74_37	frame_shift_del	58.49	22	31	DEL	0.005	-
FOXF1	2294	genome.wustl.edu	37	16	86544572	86544572	+	Missense_Mutation	SNP	G	G	A	rs148498631		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr16:86544572G>A	ENST00000262426.4	+	1	440	c.397G>A	c.(397-399)Gag>Aag	p.E133K	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	133					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						GTTCATGTTCGAGGAGGGCTC	0.637																																																	0													62.0	77.0	72.0					16																	86544572		2198	4298	6496	SO:0001583	missense	0			U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"""Forkhead boxes"""	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.397G>A	16.37:g.86544572G>A	ENSP00000262426:p.Glu133Lys		B2RAF4|Q5FWE5	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E133K	ENST00000262426.4	37	c.397	CCDS10957.2	16	.	.	.	.	.	.	.	.	.	.	G	33	5.242577	0.95272	.	.	ENSG00000103241	ENST00000262426	T	0.67345	-0.26	4.51	4.51	0.55191	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	T	0.79082	0.4386	L	0.60067	1.865	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81797	-0.0768	10	0.72032	D	0.01	.	16.1868	0.81960	0.0:0.0:1.0:0.0	.	133	Q12946	FOXF1_HUMAN	K	133	ENSP00000262426:E133K	ENSP00000262426:E133K	E	+	1	0	FOXF1	85102073	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.379000	0.97198	2.052000	0.61016	0.650000	0.86243	GAG	FOXF1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head	ENSG00000103241		0.637	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FOXF1	HGNC	protein_coding	OTTHUMT00000269103.2	-	0.00	85	0	G	NM_001451		86544572	+1	tier1	-	no_errors	ENST00000262426	ensembl	human	known	74_37	missense	74.07	21	60	SNP	1.000	A
FSCB	84075	genome.wustl.edu	37	14	44974261	44974261	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr14:44974261C>A	ENST00000340446.4	-	1	2221	c.1930G>T	c.(1930-1932)Gct>Tct	p.A644S	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	644	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGAACTTCAGCGGGGGCCTCC	0.662																																																	0													1.0	1.0	1.0					14																	44974261		305	870	1175	SO:0001583	missense	0			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1930G>T	14.37:g.44974261C>A	ENSP00000344579:p.Ala644Ser		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	NULL	p.A644S	ENST00000340446.4	37	c.1930	CCDS9679.1	14	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467217	0.26335	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.14391	2.51	4.1	-0.191	0.13252	.	.	.	.	.	T	0.09642	0.0237	L	0.61218	1.895	0.09310	N	1	P	0.38250	0.624	B	0.27796	0.083	T	0.28681	-1.0036	9	0.21540	T	0.41	0.6857	3.9892	0.09529	0.1453:0.4412:0.3218:0.0917	.	644	Q5H9T9	FSCB_HUMAN	S	644;537	ENSP00000344579:A644S	ENSP00000344579:A644S	A	-	1	0	FSCB	44044011	0.000000	0.05858	0.000000	0.03702	0.159000	0.22180	-0.365000	0.07573	-0.138000	0.11434	-0.687000	0.03738	GCT	FSCB	-	NULL	ENSG00000189139		0.662	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCB	HGNC	protein_coding	OTTHUMT00000276788.1		0.00	26	0	C	NM_032135		44974261	-1			no_errors	ENST00000340446	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.000	A
GOLGA8DP	100132979	genome.wustl.edu	37	15	22709152	22709152	+	RNA	SNP	G	G	T	rs368651947		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr15:22709152G>T	ENST00000314246.8	-	0	1244				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											GGCCTGGAGCGCTCCTGCCAC	0.607																																																	0																																												0					15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709152G>T				RNA	SNP	-	NULL	ENST00000314246.8	37	NULL		15	.	.	.	.	.	.	.	.	.	.	G	0.253	-1.005164	0.02112	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.887	-0.534	0.11883	.	.	.	.	.	T	0.14917	0.0360	.	.	.	0.22629	N	0.99892	B	0.06786	0.001	B	0.08055	0.003	T	0.39461	-0.9613	6	0.02654	T	1	.	4.9893	0.14205	0.0:0.0:0.3107:0.6893	.	116	F8WBT8	.	E	116;116;334	.	ENSP00000327024:A116E	A	-	2	0	AC116165.1	20260516	0.948000	0.32251	0.006000	0.13384	0.011000	0.07611	0.915000	0.28638	-0.149000	0.11215	-1.606000	0.00808	GCG	GOLGA8DP	-	-	ENSG00000185182		0.607	GOLGA8DP-002	KNOWN	basic	processed_transcript	GOLGA8DP	HGNC	pseudogene	OTTHUMT00000415613.1		0.00	141	0	G	NR_027407		22709152	-1			no_errors	ENST00000314246	ensembl	human	known	74_37	rna	5.06	146	8	SNP	0.154	T
GOLGA6L2	283685	genome.wustl.edu	37	15	23685343	23685343	+	Missense_Mutation	SNP	T	T	C	rs74203443		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr15:23685343T>C	ENST00000567107.1	-	8	2331	c.2279A>G	c.(2278-2280)gAa>gGa	p.E760G	GOLGA6L2_ENST00000312015.5_Intron|GOLGA6L2_ENST00000345070.5_Intron			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	0										breast(1)|endometrium(7)	8						gtcttcttcttctcccgcatc	0.572																																																	0																																										SO:0001583	missense	0			AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.2279A>G	15.37:g.23685343T>C	ENSP00000454407:p.Glu760Gly		A1L301	Missense_Mutation	SNP	NULL	p.E760G	ENST00000567107.1	37	c.2279		15																																																																																			GOLGA6L2	-	NULL	ENSG00000174450		0.572	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	HGNC	protein_coding	OTTHUMT00000431937.1	-	0.00	46	0	T	NM_182561		23685343	-1	tier1	rs74203443	no_errors	ENST00000567107	ensembl	human	putative	74_37	missense	19.57	37	9	SNP	0.000	C
GPR63	81491	genome.wustl.edu	37	6	97247193	97247193	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr6:97247193G>T	ENST00000229955.3	-	2	760	c.415C>A	c.(415-417)Ctg>Atg	p.L139M	GPR63_ENST00000417980.1_Missense_Mutation_p.L139M	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		ATAGTTACCAGGGCAAAGGGC	0.438																																																	0													75.0	75.0	75.0					6																	97247193		2203	4300	6503	SO:0001583	missense	0			AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.415C>A	6.37:g.97247193G>T	ENSP00000229955:p.Leu139Met		Q9UJH3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L139M	ENST00000229955.3	37	c.415	CCDS5036.1	6	.	.	.	.	.	.	.	.	.	.	G	11.90	1.778058	0.31502	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.48201	0.82;0.82;0.82	4.83	1.71	0.24356	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000010	T	0.47655	0.1457	M	0.69523	2.12	0.49213	D	0.999767	D	0.89917	1.0	D	0.79108	0.992	T	0.47262	-0.9131	10	0.49607	T	0.09	-7.8805	4.7157	0.12894	0.2871:0.1581:0.5549:0.0	.	139	Q9BZJ6	GPR63_HUMAN	M	163;139;139;139	ENSP00000393170:L139M;ENSP00000229955:L139M;ENSP00000358273:L139M	ENSP00000229955:L139M	L	-	1	2	GPR63	97353914	1.000000	0.71417	0.472000	0.27241	0.849000	0.48306	1.443000	0.35057	0.078000	0.16900	0.555000	0.69702	CTG	GPR63	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000112218		0.438	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR63	HGNC	protein_coding	OTTHUMT00000041566.2		0.00	44	0	G			97247193	-1			no_errors	ENST00000229955	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T
GPS2	2874	genome.wustl.edu	37	17	7216753	7216753	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr17:7216753G>T	ENST00000380728.2	-	8	970	c.670C>A	c.(670-672)Cag>Aag	p.Q224K	GPS2_ENST00000391950.3_Missense_Mutation_p.Q224K|GPS2_ENST00000389167.5_Missense_Mutation_p.Q224K|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	224					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GGCTGTGGCTGAGATAGGTAC	0.512											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													82.0	84.0	83.0					17																	7216753		2203	4300	6503	SO:0001583	missense	0			U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.670C>A	17.37:g.7216753G>T	ENSP00000370104:p.Gln224Lys	640	B4DXA1|Q6FHM8	Missense_Mutation	SNP	NULL	p.Q224K	ENST00000380728.2	37	c.670	CCDS11100.1	17	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039289	0.75617	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	T;T	0.41758	0.99;0.99	4.74	4.74	0.60224	.	0.072326	0.56097	U	0.000034	T	0.21801	0.0525	N	0.14661	0.345	0.39486	D	0.967967	B	0.33103	0.397	B	0.30943	0.122	T	0.10042	-1.0647	10	0.10636	T	0.68	-0.0074	10.2803	0.43534	0.0914:0.0:0.9086:0.0	.	224	Q13227	GPS2_HUMAN	K	224	ENSP00000370104:Q224K;ENSP00000379841:Q224K	ENSP00000319371:Q224K	Q	-	1	0	GPS2	7157477	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	4.948000	0.63590	2.459000	0.83118	0.655000	0.94253	CAG	GPS2	-	NULL	ENSG00000132522		0.512	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPS2	HGNC	protein_coding	OTTHUMT00000220048.4		0.00	47	0	G	NM_004489		7216753	-1			no_errors	ENST00000380728	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.999	T
GRM6	2916	genome.wustl.edu	37	5	178413399	178413399	+	Nonsense_Mutation	SNP	G	G	T	rs140271739	byFrequency	TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr5:178413399G>T	ENST00000517717.1	-	9	1894	c.1856C>A	c.(1855-1857)tCg>tAg	p.S619*	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Nonsense_Mutation_p.S619*			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	619					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CTCTCGGCCCGAGGCCCGGAC	0.682																																																	0													43.0	40.0	41.0					5																	178413399		2203	4300	6503	SO:0001587	stop_gained	0			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1856C>A	5.37:g.178413399G>T	ENSP00000430767:p.Ser619*			Nonsense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.S619*	ENST00000517717.1	37	c.1856	CCDS4442.1	5	.	.	.	.	.	.	.	.	.	.	G	40	7.921986	0.98563	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	.	.	.	5.02	4.15	0.48705	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.394	0.49830	0.0897:0.0:0.9103:0.0	.	.	.	.	X	775;619;619	.	ENSP00000231188:S619X	S	-	2	0	GRM6	178346005	1.000000	0.71417	0.945000	0.38365	0.815000	0.46073	9.661000	0.98601	1.246000	0.43901	0.462000	0.41574	TCG	GRM6	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3	ENSG00000113262		0.682	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM6	HGNC	protein_coding	OTTHUMT00000253474.2		0.00	39	0	G			178413399	-1			no_errors	ENST00000231188	ensembl	human	known	74_37	nonsense	5.56	34	2	SNP	0.997	T
GTF2IRD2P1	401375	genome.wustl.edu	37	7	72664015	72664016	+	RNA	INS	-	-	G	rs202030378|rs372212945	byFrequency	TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr7:72664015_72664016insG	ENST00000425256.1	-	0	884_885									GTF2I repeat domain containing 2 pseudogene 1																		ATACCACCCCCGGGGCATGCCA	0.505													GGGGG|GGGG|GGGGG|deletion	3786	0.75599	0.7247	0.8242	5008	,	,		6539	0.7212		0.8101	False		,,,				2504	0.7301																0																																												0			AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72664019_72664019dupG				RNA	INS	-	NULL	ENST00000425256.1	37	NULL		7																																																																																			GTF2IRD2P1	-	-	ENSG00000214544		0.505	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	GTF2IRD2P1	HGNC	pseudogene	OTTHUMT00000345921.1		0.00	11	0	-	NR_002164		72664016	-1	tier1		no_errors	ENST00000425256	ensembl	human	known	74_37	rna	18.18	18	4	INS	0.912:0.964	G
HIF1A	3091	genome.wustl.edu	37	14	62188256	62188256	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr14:62188256G>A	ENST00000337138.4	+	3	521	c.256G>A	c.(256-258)Gca>Aca	p.A86T	HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000323441.6_Missense_Mutation_p.A86T|HIF1A_ENST00000539097.1_Missense_Mutation_p.A110T|HIF1A_ENST00000394997.1_Missense_Mutation_p.A87T|HIF1A_ENST00000557538.1_Missense_Mutation_p.A27T|HIF1A_ENST00000557206.1_3'UTR	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	86	Interaction with TSGA10. {ECO:0000250}.|PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	TGACATGAAAGCACAGATGAA	0.299																																																	0													147.0	149.0	148.0					14																	62188256		2203	4299	6502	SO:0001583	missense	0			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.256G>A	14.37:g.62188256G>A	ENSP00000338018:p.Ala86Thr		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_HIF-1_alpha,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.A110T	ENST00000337138.4	37	c.328	CCDS9753.1	14	.	.	.	.	.	.	.	.	.	.	G	9.949	1.219674	0.22373	.	.	ENSG00000100644	ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.52983	0.74;0.74;0.64;0.76;0.74	5.84	5.84	0.93424	.	0.499082	0.23153	N	0.051338	T	0.23532	0.0569	N	0.04508	-0.205	0.24644	N	0.993557	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.10450	0.005;0.005;0.005	T	0.09292	-1.0681	10	0.25751	T	0.34	.	7.6611	0.28404	0.1928:0.0:0.8072:0.0	.	87;86;86	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	T	27;86;87;86;27;110	ENSP00000338018:A86T;ENSP00000378446:A87T;ENSP00000323326:A86T;ENSP00000451696:A27T;ENSP00000437955:A110T	ENSP00000323326:A86T	A	+	1	0	HIF1A	61258009	0.861000	0.29849	1.000000	0.80357	0.912000	0.54170	1.757000	0.38400	2.765000	0.95021	0.484000	0.47621	GCA	HIF1A	-	NULL	ENSG00000100644		0.299	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2	-	0.00	48	0	G	NM_001530		62188256	+1	tier1	-	no_errors	ENST00000539097	ensembl	human	known	74_37	missense	6.80	96	7	SNP	0.520	A
HM13	81502	genome.wustl.edu	37	20	30142485	30142485	+	Intron	DEL	A	A	-	rs375749810		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr20:30142485delA	ENST00000340852.5	+	8	848				HM13_ENST00000376127.3_Intron|HM13_ENST00000398174.3_Intron|HM13_ENST00000492709.1_Intron|HM13_ENST00000335574.5_Intron	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13						membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			actccgtctcaaaaaaaaaaa	0.552																																																	0																																										SO:0001627	intron_variant	0			AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"""signal peptide peptidase beta"", ""presenilin-like protein 3"", ""intramembrane protease"", ""signal peptide peptidase like 1"""	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.725-64A>-	20.37:g.30142485delA			B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	RNA	DEL	-	NULL	ENST00000340852.5	37	NULL	CCDS13182.1	20																																																																																			HM13	-	-	ENSG00000101294		0.552	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	HM13	HGNC	protein_coding	OTTHUMT00000078527.2		0.00	35	0	A	NM_178580		30142485	+1	tier1		no_errors	ENST00000474466	ensembl	human	known	74_37	rna	16.67	25	5	DEL	0.172	-
HMGB1P5	10354	genome.wustl.edu	37	3	22424366	22424366	+	RNA	SNP	G	G	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr3:22424366G>T	ENST00000451497.1	+	0	931									high mobility group box 1 pseudogene 5																		CTGTTTTGTTGACATTCTGAA	0.333																																																	0																																												0			AF076677		3p24	2011-09-21	2011-04-05	2010-10-15	ENSG00000132967	ENSG00000132967		"""High mobility group / HMG-box pseudogenes"""	4997	pseudogene	pseudogene			"""high-mobility group (nonhistone chromosomal) protein 1-like 5"", ""high-mobility group (nonhistone chromosomal) protein 1-like 5 pseudogene"", ""high-mobility group box 1-like 5 pseudogene"", ""high-mobility group box 1-like 15"", ""high-mobility group box 1 pseudogene 2"", ""high-mobility group box 1-like 5"", ""high-mobility group box 1 pseudogene 5"""	HMG1L5, HMGB1L15, HMGB1P2, HMGB1L5		9925949	Standard	NG_000897		Approved				OTTHUMG00000155591		3.37:g.22424366G>T				RNA	SNP	-	NULL	ENST00000451497.1	37	NULL		3																																																																																			HMGB1P5	-	-	ENSG00000132967		0.333	HMGB1P5-002	KNOWN	basic	processed_transcript	HMGB1P5	HGNC	pseudogene	OTTHUMT00000340803.1		0.00	29	0	G	NG_000897		22424366	+1			no_errors	ENST00000451497	ensembl	human	known	74_37	rna	9.68	28	3	SNP	1.000	T
IL9R	3581	genome.wustl.edu	37	X	155239804	155239804	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chrX:155239804C>G	ENST00000244174.5	+	9	1475	c.1296C>G	c.(1294-1296)agC>agG	p.S432R	IL9R_ENST00000424344.3_Missense_Mutation_p.S411R|IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	432	Poly-Ser.				cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					gcaggagcagcagcagcagca	0.627																																																	0													17.0	27.0	24.0					X																	155239804		2201	4295	6496	SO:0001583	missense	0			M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1296C>G	X.37:g.155239804C>G	ENSP00000244174:p.Ser432Arg		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.S432R	ENST00000244174.5	37	c.1296	CCDS14771.4	X	.	.	.	.	.	.	.	.	.	.	c	9.402	1.078258	0.20227	.	.	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.10860	2.83;2.83	0.195	0.195	0.15151	.	3.852910	0.00870	N	0.002015	T	0.14356	0.0347	.	.	.	0.09310	N	1	P	0.42518	0.782	P	0.46110	0.504	T	0.20806	-1.0264	8	0.48119	T	0.1	-15.0951	.	.	.	.	432	Q01113	IL9R_HUMAN	R	432;411	ENSP00000244174:S432R;ENSP00000388918:S411R	ENSP00000244174:S432R	S	+	3	2	IL9R	154892998	0.001000	0.12720	0.005000	0.12908	0.005000	0.04900	-0.363000	0.07593	0.283000	0.22279	0.287000	0.19450	AGC	IL9R	-	NULL	ENSG00000124334		0.627	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL9R	HGNC	protein_coding	OTTHUMT00000058981.1	-	0.00	100	0	C	NM_002186		155239804	+1	tier1	-	no_errors	ENST00000244174	ensembl	human	known	74_37	missense	6.33	74	5	SNP	0.005	G
INTS6	26512	genome.wustl.edu	37	13	51948408	51948408	+	Silent	SNP	T	T	C			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr13:51948408T>C	ENST00000311234.4	-	15	2512	c.2040A>G	c.(2038-2040)aaA>aaG	p.K680K	INTS6_ENST00000490542.1_Silent_p.K364K|INTS6_ENST00000425000.1_Silent_p.K248K|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000497989.1_Silent_p.K502K|INTS6_ENST00000398119.2_Silent_p.K667K	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	680					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		CAGGTGGTCCTTTTCCCCCAA	0.398																																																	0													188.0	175.0	179.0					13																	51948408		2203	4300	6503	SO:0001819	synonymous_variant	0			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.2040A>G	13.37:g.51948408T>C			Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Silent	SNP	pfam_VWF_A,pfscan_VWF_A	p.K680	ENST00000311234.4	37	c.2040	CCDS9428.1	13																																																																																			INTS6	-	NULL	ENSG00000102786		0.398	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS6	HGNC	protein_coding	OTTHUMT00000045023.1		0.00	52	0	T	NM_012141		51948408	-1			no_errors	ENST00000311234	ensembl	human	known	74_37	silent	7.69	34	3	SNP	1.000	C
IQSEC1	9922	genome.wustl.edu	37	3	12966156	12966156	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr3:12966156C>T	ENST00000273221.4	-	4	1913	c.1697G>A	c.(1696-1698)cGc>cAc	p.R566H		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	566	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAGGCCCTTGCGCTGCAGCAG	0.637																																																	0													98.0	78.0	85.0					3																	12966156		2203	4300	6503	SO:0001583	missense	0			BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.1697G>A	3.37:g.12966156C>T	ENSP00000273221:p.Arg566His		O94863|Q96D85	Missense_Mutation	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom	p.R566H	ENST00000273221.4	37	c.1697	CCDS33703.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.390555	0.95988	.	.	ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247	T;T	0.55234	0.53;0.53	4.28	4.28	0.50868	SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.74152	0.3679	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.79841	-0.1633	9	0.87932	D	0	.	17.0637	0.86554	0.0:1.0:0.0:0.0	.	552;552;566	E9PG60;C9JMG9;Q6DN90	.;.;IQEC1_HUMAN	H	566;552;552	ENSP00000273221:R566H;ENSP00000402299:R552H	ENSP00000273221:R566H	R	-	2	0	IQSEC1	12941156	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.733000	0.84916	2.085000	0.62840	0.655000	0.94253	CGC	IQSEC1	-	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom	ENSG00000144711		0.637	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC1	HGNC	protein_coding	OTTHUMT00000339865.2	-	0.00	75	0	C	NM_014869		12966156	-1	tier1	-	no_errors	ENST00000273221	ensembl	human	known	74_37	missense	71.23	21	52	SNP	1.000	T
ITGB4	3691	genome.wustl.edu	37	17	73723864	73723864	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr17:73723864T>C	ENST00000200181.3	+	5	584	c.397T>C	c.(397-399)Tac>Cac	p.Y133H	ITGB4_ENST00000339591.3_Missense_Mutation_p.Y133H|ITGB4_ENST00000579662.1_Missense_Mutation_p.Y133H|ITGB4_ENST00000449880.2_Missense_Mutation_p.Y133H|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.Y133H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	133	VWFA.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGTGGACCTGTACATCCTCAT	0.612																																																	0													70.0	63.0	66.0					17																	73723864		2203	4300	6503	SO:0001583	missense	0				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.397T>C	17.37:g.73723864T>C	ENSP00000200181:p.Tyr133His		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3	p.Y133H	ENST00000200181.3	37	c.397	CCDS11727.1	17	.	.	.	.	.	.	.	.	.	.	T	15.45	2.837226	0.50951	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.97455	-4.39;-4.39;-4.39	5.22	5.22	0.72569	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.64402	D	0.000001	D	0.98943	0.9641	H	0.96365	3.81	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99544	1.0964	10	0.87932	D	0	.	15.1136	0.72380	0.0:0.0:0.0:1.0	.	133;133;133;133	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	H	49;133;133;133	ENSP00000200181:Y133H;ENSP00000344079:Y133H;ENSP00000400217:Y133H	ENSP00000200181:Y133H	Y	+	1	0	ITGB4	71235459	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	8.033000	0.88852	1.980000	0.57719	0.533000	0.62120	TAC	ITGB4	-	pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu	ENSG00000132470		0.612	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448334.1	-	0.00	75	0	T			73723864	+1	tier1	-	no_errors	ENST00000200181	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	C
KCTD19	146212	genome.wustl.edu	37	16	67324844	67324844	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr16:67324844T>C	ENST00000304372.5	-	15	2666	c.2611A>G	c.(2611-2613)Atc>Gtc	p.I871V		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	871					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AAGCCGGTGATGGCCAGCAAA	0.617																																																	0													55.0	60.0	58.0					16																	67324844		2012	4177	6189	SO:0001583	missense	0			AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2611A>G	16.37:g.67324844T>C	ENSP00000305702:p.Ile871Val		B4DZ49|Q8N804	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold	p.I871V	ENST00000304372.5	37	c.2611	CCDS42179.1	16	.	.	.	.	.	.	.	.	.	.	T	13.75	2.331053	0.41297	.	.	ENSG00000168676	ENST00000304372	T	0.59772	0.24	5.67	4.58	0.56647	.	0.317293	0.26959	N	0.021621	T	0.40398	0.1115	N	0.19112	0.55	0.26664	N	0.971856	B	0.02656	0.0	B	0.01281	0.0	T	0.28586	-1.0039	10	0.42905	T	0.14	-9.1288	9.2661	0.37641	0.0:0.082:0.0:0.918	.	871	Q17RG1	KCD19_HUMAN	V	871	ENSP00000305702:I871V	ENSP00000305702:I871V	I	-	1	0	KCTD19	65882345	0.998000	0.40836	0.996000	0.52242	0.938000	0.57974	1.686000	0.37669	0.997000	0.38969	0.379000	0.24179	ATC	KCTD19	-	NULL	ENSG00000168676		0.617	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD19	HGNC	protein_coding	OTTHUMT00000422061.1	-	0.00	27	0	T	XM_085367		67324844	-1	tier1	-	no_errors	ENST00000304372	ensembl	human	known	74_37	missense	14.29	41	7	SNP	0.997	C
NWD2	57495	genome.wustl.edu	37	4	37447948	37447948	+	Silent	SNP	C	C	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr4:37447948C>T	ENST00000309447.5	+	7	5186	c.4338C>T	c.(4336-4338)tcC>tcT	p.S1446S		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		1446										breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						TTATTACCTCCGCAAATACCT	0.488																																																	0													40.0	37.0	38.0					4																	37447948		692	1591	2283	SO:0001819	synonymous_variant	0																														ENST00000309447.5:c.4338C>T	4.37:g.37447948C>T			A8MRU1	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.S1446	ENST00000309447.5	37	c.4338	CCDS47040.1	4																																																																																			KIAA1239	-	superfamily_WD40_repeat_dom	ENSG00000174145		0.488	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1239	HGNC	protein_coding	OTTHUMT00000347551.2	-	0.00	41	0	C			37447948	+1	tier1	-	no_errors	ENST00000309447	ensembl	human	known	74_37	silent	15.00	34	6	SNP	0.210	T
KIAA1731	85459	genome.wustl.edu	37	11	93463064	93463064	+	Silent	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr11:93463064G>A	ENST00000325212.6	+	28	7758	c.7596G>A	c.(7594-7596)gtG>gtA	p.V2532V	SNORA25_ENST00000384384.1_RNA|KIAA1731_ENST00000344196.4_Silent_p.V712V|KIAA1731_ENST00000411936.1_Silent_p.V2533V|KIAA1731_ENST00000531700.1_Silent_p.V712V|SNORA1_ENST00000384107.1_RNA|SNORA32_ENST00000384072.1_RNA|TAF1D_ENST00000546088.1_5'Flank|SNORD6_ENST00000365444.1_RNA|SNORA8_ENST00000384574.1_RNA			Q9C0D2	K1731_HUMAN	KIAA1731	2532	ALMS motif.					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)				TAAAGGGCGTGAATAAAGTCA	0.378																																																	0													88.0	73.0	78.0					11																	93463064		692	1591	2283	SO:0001819	synonymous_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.7596G>A	11.37:g.93463064G>A			C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Silent	SNP	NULL	p.V2533	ENST00000325212.6	37	c.7599	CCDS44708.1	11																																																																																			KIAA1731	-	NULL	ENSG00000166004		0.378	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1731	HGNC	protein_coding	OTTHUMT00000394640.1	-	0.00	50	0	G	NM_033395		93463064	+1	tier1	-	no_errors	ENST00000411936	ensembl	human	known	74_37	silent	21.84	68	19	SNP	0.000	A
KMT2C	58508	genome.wustl.edu	37	7	151947037	151947037	+	Splice_Site	SNP	C	C	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr7:151947037C>T	ENST00000262189.6	-	13	1955	c.1737G>A	c.(1735-1737)gcG>gcA	p.A579A	KMT2C_ENST00000355193.2_Splice_Site_p.A579A	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	579				A -> T (in Ref. 1; AAK00583). {ECO:0000305}.	histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGACTTGAACCGCTGTGAGTA	0.363																																																	0													126.0	103.0	111.0					7																	151947037		2203	4299	6502	SO:0001630	splice_region_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1736-1G>A	7.37:g.151947037C>T			Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.A579	ENST00000262189.6	37	c.1737	CCDS5931.1	7																																																																																			KMT2C	-	NULL	ENSG00000055609		0.363	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3	-	0.00	66	0	C		Silent	151947037	-1	tier1	-	no_errors	ENST00000355193	ensembl	human	known	74_37	silent	26.25	59	21	SNP	0.000	T
KMT2D	8085	genome.wustl.edu	37	12	49435700	49435700	+	Splice_Site	SNP	C	C	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr12:49435700C>T	ENST00000301067.7	-	29	6182	c.6183G>A	c.(6181-6183)ctG>ctA	p.L2061L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2061					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCTGCCTCACCAGGTAGGGGG	0.527																																																	0													50.0	54.0	52.0					12																	49435700		1962	4166	6128	SO:0001630	splice_region_variant	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6183+1G>A	12.37:g.49435700C>T			O14687	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.L2061	ENST00000301067.7	37	c.6183	CCDS44873.1	12																																																																																			KMT2D	-	superfamily_HMG_box_dom,smart_HMG_box_dom	ENSG00000167548		0.527	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0.00	56	0	C		Silent	49435700	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	silent	44.23	28	23	SNP	1.000	T
LHFPL5	222662	genome.wustl.edu	37	6	35773672	35773672	+	Silent	SNP	C	C	T	rs541264130		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr6:35773672C>T	ENST00000373853.1	+	1	603	c.225C>T	c.(223-225)tcC>tcT	p.S75S	LHFPL5_ENST00000360215.1_Silent_p.S75S			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	75					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TGCTGTCCTCCGAGCTCATCT	0.582													c|||	1	0.000199681	0.0	0.0	5008	,	,		19218	0.0		0.0	False		,,,				2504	0.001																0													225.0	209.0	214.0					6																	35773672		2203	4300	6503	SO:0001819	synonymous_variant	0			BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.225C>T	6.37:g.35773672C>T			B3KX66	Silent	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.S75	ENST00000373853.1	37	c.225	CCDS4812.1	6																																																																																			LHFPL5	-	pfam_Lipome_HGMIC_fus_partner-like	ENSG00000197753		0.582	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LHFPL5	HGNC	protein_coding	OTTHUMT00000040323.1	-	0.00	39	0	C	NM_182548		35773672	+1	tier1	-	no_errors	ENST00000360215	ensembl	human	known	74_37	silent	24.00	19	6	SNP	0.005	T
LINC00152	112597	genome.wustl.edu	37	2	87755162	87755162	+	lincRNA	SNP	T	T	C	rs144282529		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr2:87755162T>C	ENST00000409054.1	+	0	276					NR_015395.1				long intergenic non-protein coding RNA 152																		CAGCCTCTCCTTGGTGAGTAT	0.532																																																	0																																												0			BC009508		2p11.2	2014-02-14	2011-08-11	2011-08-11	ENSG00000222041	ENSG00000222041		"""Long non-coding RNAs"""	28717	non-coding RNA	RNA, long non-coding			"""chromosome 2 open reading frame 59"", ""non-protein coding RNA 152"""	C2orf59, NCRNA00152		24523021, 23801869, 22689435, 24036268	Standard	NR_024204		Approved	MGC4677	uc002ssk.4		OTTHUMG00000130273		2.37:g.87755162T>C				RNA	SNP	-	NULL	ENST00000409054.1	37	NULL		2																																																																																			LINC00152	-	-	ENSG00000222041		0.532	LINC00152-005	KNOWN	basic	lincRNA	LINC00152	HGNC	lincRNA	OTTHUMT00000330387.3		0.00	44	0	T	XR_042051		87755162	+1			no_errors	ENST00000331944	ensembl	human	known	74_37	rna	10.71	25	3	SNP	1.000	C
LINC00969	440993	genome.wustl.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																																	0																																												0			AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G				RNA	SNP	-	NULL	ENST00000445430.1	37	NULL		3																																																																																			LINC00969	-	-	ENSG00000242086		0.587	LINC00969-038	KNOWN	basic	lincRNA	LINC00969	HGNC	lincRNA	OTTHUMT00000341951.1		0.00	98	0	A			195400728	+1			no_errors	ENST00000414625	ensembl	human	known	74_37	rna	9.13	219	22	SNP	0.999	G
RNF213	57674	genome.wustl.edu	37	17	78354811	78354811	+	Intron	SNP	A	A	G	rs534324003		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr17:78354811A>G	ENST00000582970.1	+	56	13940				RNF213_ENST00000508628.2_Intron|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Intron|CTD-2047H16.4_ENST00000573394.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213						ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTGCCAAACAATGGGCTCAGT	0.507													A|||	1	0.000199681	0.0	0.0014	5008	,	,		19589	0.0		0.0	False		,,,				2504	0.0																0													103.0	112.0	109.0					17																	78354811		2203	4300	6503	SO:0001627	intron_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13797+24A>G	17.37:g.78354811A>G			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	RNA	SNP	-	NULL	ENST00000582970.1	37	NULL	CCDS58606.1	17																																																																																			CTD-2047H16.4	-	-	ENSG00000263069		0.507	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	LOC100294362	Clone_based_vega_gene	protein_coding	OTTHUMT00000443298.1	-	0.00	72	0	A	NM_020914		78354811	-1	tier1	-	no_errors	ENST00000573394	ensembl	human	known	74_37	rna	73.17	22	60	SNP	0.000	G
LAMA1	284217	genome.wustl.edu	37	18	6956262	6956263	+	Intron	INS	-	-	T	rs140199130|rs34931978|rs397859065	byFrequency	TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr18:6956262_6956263insT	ENST00000389658.3	-	56	8188				RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1						axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TGAATTGAATCTTTTTTTTTTT	0.337																																																	0																																										SO:0001627	intron_variant	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8094+371->A	18.37:g.6956273_6956273dupT				RNA	INS	-	NULL	ENST00000389658.3	37	NULL	CCDS32787.1	18																																																																																			RP11-781P6.1	-	-	ENSG00000265069		0.337	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101927188	Clone_based_vega_gene	protein_coding	OTTHUMT00000257369.1		0.00	17	0	-	NM_005559		6956263	+1	tier1		no_errors	ENST00000584722	ensembl	human	known	74_37	rna	20.00	20	5	INS	0.002:0.001	T
FOXM1	2305	genome.wustl.edu	37	12	2964422	2964422	+	IGR	SNP	C	C	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr12:2964422C>T	ENST00000359843.3	-	0	3315				AC005841.1_ENST00000382678.3_Missense_Mutation_p.G95D	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1						cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GTGCTGGGCGCCACCCTTCCA	0.627																																																	0																																										SO:0001628	intergenic_variant	0			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118		12.37:g.2964422C>T			O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	NULL	p.G95D	ENST00000359843.3	37	c.284	CCDS8515.1	12	.	.	.	.	.	.	.	.	.	.	C	6.641	0.486663	0.12641	.	.	ENSG00000206044	ENST00000382678	.	.	.	5.49	-0.0749	0.13728	.	1.528440	0.03538	N	0.223546	T	0.29716	0.0742	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21552	-1.0242	6	0.18710	T	0.47	0.0793	9.4134	0.38505	0.0:0.1324:0.3408:0.5268	.	.	.	.	D	95	.	ENSP00000372125:G95D	G	-	2	0	AC005841.1	2834683	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.495000	0.22483	-0.006000	0.14370	-0.281000	0.10026	GGC	AC005841.1	-	NULL	ENSG00000206044		0.627	FOXM1-002	KNOWN	basic|CCDS	protein_coding	LOC101929469	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000398272.1	-	0.00	88	0	C	NM_021953		2964422	-1	tier1	-	no_errors	ENST00000382678	ensembl	human	known	74_37	missense	26.55	83	30	SNP	0.000	T
PRPH	5630	genome.wustl.edu	37	12	49690649	49690649	+	Intron	SNP	C	C	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr12:49690649C>T	ENST00000257860.4	+	4	2201				RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin						cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						CGCTGTCCATCCTCTGCCTGC	0.637											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													15.0	16.0	16.0					12																	49690649		2200	4298	6498	SO:0001627	intron_variant	0				CCDS8783.1	12q12-q13	2013-01-16						"""Intermediate filaments type III"""	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.703-23C>T	12.37:g.49690649C>T		964	Q5TFH5|Q6DK65	RNA	SNP	-	NULL	ENST00000257860.4	37	NULL	CCDS8783.1	12																																																																																			RP11-161H23.9	-	-	ENSG00000258334		0.637	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101927267	Clone_based_vega_gene	protein_coding	OTTHUMT00000393381.1	-	0.00	42	0	C	NM_006262		49690649	-1	tier1	-	no_errors	ENST00000553259	ensembl	human	known	74_37	rna	48.78	21	20	SNP	0.000	T
LOC645166	645166	genome.wustl.edu	37	2	91825016	91825016	+	RNA	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr2:91825016G>A	ENST00000609777.1	-	0	199																											tcacattcctgttttccagaa	0.498																																																	0																																												0																															2.37:g.91825016G>A				RNA	SNP	-	NULL	ENST00000609777.1	37	NULL		2																																																																																			AC027612.6	-	-	ENSG00000143429		0.498	AC027612.6-002	KNOWN	basic	processed_transcript	LOC654342	Clone_based_vega_gene	pseudogene	OTTHUMT00000471986.1	-	0.00	78	0	G			91825016	-1	tier1	-	no_errors	ENST00000608018	ensembl	human	known	74_37	rna	13.76	94	15	SNP	0.000	A
MAGI2	9863	genome.wustl.edu	37	7	77762345	77762345	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr7:77762345C>G	ENST00000354212.4	-	18	3317	c.3064G>C	c.(3064-3066)Gag>Cag	p.E1022Q	MAGI2_ENST00000419488.1_Missense_Mutation_p.E1008Q|MAGI2_ENST00000522391.1_Missense_Mutation_p.E1022Q	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1022	Pro-rich.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTCTGCTTCTCTGAGCTGGGT	0.617																																																	0													107.0	117.0	114.0					7																	77762345		2203	4300	6503	SO:0001583	missense	0			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.3064G>C	7.37:g.77762345C>G	ENSP00000346151:p.Glu1022Gln		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.E1022Q	ENST00000354212.4	37	c.3064	CCDS5594.1	7	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017093	0.93404	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.12361	2.8;2.79;2.69	5.76	5.76	0.90799	.	0.000000	0.36854	U	0.002372	T	0.23806	0.0576	N	0.14661	0.345	0.80722	D	1	D;D;D	0.69078	0.976;0.995;0.997	P;D;D	0.75484	0.703;0.915;0.986	T	0.07271	-1.0781	10	0.41790	T	0.15	.	19.5547	0.95338	0.0:1.0:0.0:0.0	.	1022;1008;1022	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	Q	1008;1022;1022;1022	ENSP00000405766:E1008Q;ENSP00000346151:E1022Q;ENSP00000428389:E1022Q	ENSP00000346151:E1022Q	E	-	1	0	MAGI2	77600281	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	7.152000	0.77419	2.726000	0.93360	0.655000	0.94253	GAG	MAGI2	-	NULL	ENSG00000187391		0.617	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	HGNC	protein_coding	OTTHUMT00000253197.3	-	0.00	45	0	C	NM_012301		77762345	-1	tier1	-	no_errors	ENST00000354212	ensembl	human	known	74_37	missense	40.98	36	25	SNP	1.000	G
MAN1A2	10905	genome.wustl.edu	37	1	117963270	117963270	+	Splice_Site	SNP	A	A	G			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr1:117963270A>G	ENST00000356554.3	+	5	1589	c.854A>G	c.(853-855)gAg>gGg	p.E285G		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	285					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TCAGGAGAGGAGGTGAGCAAA	0.358																																					Ovarian(33;199 881 8228 13687 31538)												0													115.0	103.0	107.0					1																	117963270		2203	4300	6503	SO:0001630	splice_region_variant	0			AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.855+1A>G	1.37:g.117963270A>G			Q9H510	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.E285G	ENST00000356554.3	37	c.854	CCDS895.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.36|19.36	3.812468|3.812468	0.70912|0.70912	.|.	.|.	ENSG00000198162|ENSG00000198162	ENST00000356554;ENST00000369450|ENST00000449370	T|.	0.71579|.	-0.58|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.45856|0.45856	0.1363|0.1363	L|L	0.41824|0.41824	1.3|1.3	0.80722|0.80722	D|D	1|1	D;B|.	0.64830|.	0.994;0.429|.	P;B|.	0.55222|.	0.771;0.168|.	T|T	0.45731|0.45731	-0.9241|-0.9241	10|5	0.52906|.	T|.	0.07|.	-16.2493|-16.2493	12.4926|12.4926	0.55909|0.55909	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	49;285|.	A6NLR2;O60476|.	.;MA1A2_HUMAN|.	G|G	285;49|18	ENSP00000348959:E285G|.	ENSP00000348959:E285G|.	E|R	+|+	2|1	0|2	MAN1A2|MAN1A2	117764793|117764793	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.625000|0.625000	0.37756|0.37756	8.472000|8.472000	0.90407|0.90407	2.206000|2.206000	0.71126|0.71126	0.533000|0.533000	0.62120|0.62120	GAG|AGA	MAN1A2	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47	ENSG00000198162		0.358	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A2	HGNC	protein_coding	OTTHUMT00000033593.1	-	0.00	76	0	A	NM_006699	Missense_Mutation	117963270	+1	tier1	-	no_errors	ENST00000356554	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	G
MAPK3	5595	genome.wustl.edu	37	16	30129434	30129434	+	Silent	SNP	G	G	A	rs542338052		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr16:30129434G>A	ENST00000263025.4	-	4	678	c.594C>T	c.(592-594)acC>acT	p.T198T	MAPK3_ENST00000395200.1_Intron|MAPK3_ENST00000484663.1_Silent_p.T84T|MAPK3_ENST00000322266.5_Silent_p.T198T|MAPK3_ENST00000403394.1_Silent_p.T198T|MAPK3_ENST00000494643.1_5'Flank|MAPK3_ENST00000395199.3_Silent_p.T198T|MAPK3_ENST00000395202.1_Silent_p.T198T	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage induced protein phosphorylation (GO:0006975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-1-mediated signaling pathway (GO:0070498)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apolipoprotein binding (GO:2000657)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to exogenous dsRNA (GO:0043330)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)									Arsenic trioxide(DB01169)|Sulindac(DB00605)	TCAGGAAGCCGGTGTGGTCAT	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		17804	0.0		0.0	False		,,,				2504	0.001																0													52.0	48.0	49.0					16																	30129434		2197	4300	6497	SO:0001819	synonymous_variant	0			M84490	CCDS10672.1, CCDS42148.1, CCDS42149.1	16p11.2	2011-06-10			ENSG00000102882	ENSG00000102882	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6877	protein-coding gene	gene with protein product		601795		PRKM3		9628824	Standard	NM_001109891		Approved	ERK1, p44mapk, p44erk1	uc002dws.3	P27361	OTTHUMG00000132149	ENST00000263025.4:c.594C>T	16.37:g.30129434G>A			A8CZ58|B0LPG3|Q8NHX1	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4	p.T198	ENST00000263025.4	37	c.594	CCDS10672.1	16	.	.	.	.	.	.	.	.	.	.	G	2.027	-0.423219	0.04734	.	.	ENSG00000102882	ENST00000495629;ENST00000481230	.	.	.	5.69	-11.4	0.00090	.	.	.	.	.	T	0.34135	0.0887	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43861	-0.9365	4	.	.	.	.	4.001	0.09580	0.2395:0.227:0.4227:0.1108	.	.	.	.	L	159;152	.	.	P	-	2	0	MAPK3	30036935	0.000000	0.05858	0.426000	0.26672	0.212000	0.24457	-1.872000	0.01639	-2.477000	0.00525	-1.031000	0.02408	CCG	MAPK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4	ENSG00000102882		0.597	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK3	HGNC	protein_coding	OTTHUMT00000255196.2	-	0.00	34	0	G			30129434	-1	tier1	-	no_errors	ENST00000263025	ensembl	human	known	74_37	silent	25.49	38	13	SNP	0.038	A
MARCH2	51257	genome.wustl.edu	37	19	8503364	8503364	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr19:8503364G>T	ENST00000602117.1	+	5	1130	c.675G>T	c.(673-675)gaG>gaT	p.E225D	MARCH2_ENST00000381035.4_Missense_Mutation_p.E155D|MARCH2_ENST00000393944.1_Missense_Mutation_p.E225D|MARCH2_ENST00000215555.2_Missense_Mutation_p.E225D|MARCH2_ENST00000601283.1_Intron			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	225					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						ACAGCCCCGAGGGCCCCCAGC	0.617																																																	0													37.0	40.0	39.0					19																	8503364		2203	4300	6503	SO:0001583	missense	0			AF151074	CCDS12202.1, CCDS32894.1	19p13.2	2013-01-09	2012-02-23			ENSG00000099785		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	28038	protein-coding gene	gene with protein product		613332	"""membrane-associated ring finger (C3HC4) 2"""			11042152, 14722266	Standard	NM_016496		Approved	HSPC240, MARCH-II, RNF172	uc002mjw.3	Q9P0N8		ENST00000602117.1:c.675G>T	19.37:g.8503364G>T	ENSP00000471536:p.Glu225Asp		A6NP10|Q5H785|Q8N5A3|Q96B78	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING	p.E225D	ENST00000602117.1	37	c.675	CCDS12202.1	19	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970590	0.53614	.	.	ENSG00000099785	ENST00000393944;ENST00000215555;ENST00000381035	T;T;T	0.14391	2.51;2.51;2.51	5.33	-0.527	0.11909	.	80.921400	0.00166	N	0.000000	T	0.12433	0.0302	L	0.51422	1.61	0.09310	N	1	B;B	0.28933	0.228;0.085	B;B	0.24394	0.053;0.026	T	0.22661	-1.0210	10	0.18276	T	0.48	-26.6253	4.876	0.13656	0.306:0.2758:0.4182:0.0	.	155;225	Q9P0N8-2;Q9P0N8	.;MARH2_HUMAN	D	225;225;155	ENSP00000377518:E225D;ENSP00000215555:E225D;ENSP00000370423:E155D	ENSP00000215555:E225D	E	+	3	2	MARCH2	8409364	0.882000	0.30256	0.001000	0.08648	0.001000	0.01503	1.242000	0.32755	0.236000	0.21180	-0.150000	0.13652	GAG	MARCH2	-	NULL	ENSG00000099785		0.617	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH2	HGNC	protein_coding	OTTHUMT00000460361.2	-	0.00	79	0	G	NM_016496		8503364	+1	tier1	-	no_errors	ENST00000215555	ensembl	human	known	74_37	missense	5.13	111	6	SNP	0.000	T
MBL2	4153	genome.wustl.edu	37	10	54531301	54531301	+	Missense_Mutation	SNP	C	C	A	rs199957742		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr10:54531301C>A	ENST00000373968.3	-	1	159	c.95G>T	c.(94-96)tGc>tTc	p.C32F		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	32	Cys-rich.				acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						CACTGCAGGGCAGGTCTTTTG	0.552																																																	0													122.0	111.0	115.0					10																	54531301		2203	4300	6503	SO:0001583	missense	0			AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"""Collectins"""	6922	protein-coding gene	gene with protein product		154545	"""mannose-binding lectin (protein C) 2, soluble (opsonic defect)"""	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.95G>T	10.37:g.54531301C>A	ENSP00000363079:p.Cys32Phe		Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.C32F	ENST00000373968.3	37	c.95	CCDS7247.1	10	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675913	0.29783	.	.	ENSG00000165471	ENST00000373968	T	0.73152	-0.72	4.54	3.64	0.41730	.	0.182863	0.39615	N	0.001303	T	0.70552	0.3237	N	0.19112	0.55	0.36667	D	0.878309	D	0.89917	1.0	D	0.91635	0.999	T	0.76280	-0.3017	10	0.87932	D	0	-9.5836	8.676	0.34179	0.0:0.8984:0.0:0.1016	.	32	P11226	MBL2_HUMAN	F	32	ENSP00000363079:C32F	ENSP00000363079:C32F	C	-	2	0	MBL2	54201307	0.723000	0.28027	0.821000	0.32701	0.011000	0.07611	2.042000	0.41222	1.511000	0.48818	0.655000	0.94253	TGC	MBL2	-	NULL	ENSG00000165471		0.552	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBL2	HGNC	protein_coding	OTTHUMT00000048115.1	-	0.00	34	0	C	NM_000242		54531301	-1	tier1	rs199957742	no_errors	ENST00000373968	ensembl	human	known	74_37	missense	36.17	30	17	SNP	0.908	A
MDM1	56890	genome.wustl.edu	37	12	68720467	68720467	+	Silent	SNP	G	G	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr12:68720467G>T	ENST00000303145.7	-	3	554	c.468C>A	c.(466-468)acC>acA	p.T156T	MDM1_ENST00000430606.2_Silent_p.T156T|MDM1_ENST00000411698.2_Silent_p.T156T|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000540418.1_Intron|MDM1_ENST00000393543.3_3'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	156					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		AAAGAACCTTGGTAGAATGTT	0.378																																																	0													92.0	90.0	91.0					12																	68720467		2203	4300	6503	SO:0001819	synonymous_variant	0			AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.468C>A	12.37:g.68720467G>T			B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Silent	SNP	NULL	p.T156	ENST00000303145.7	37	c.468	CCDS8983.1	12																																																																																			MDM1	-	NULL	ENSG00000111554		0.378	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDM1	HGNC	protein_coding	OTTHUMT00000402402.1	-	0.00	38	0	G	NM_020128		68720467	-1	tier1	-	no_errors	ENST00000303145	ensembl	human	known	74_37	silent	32.69	35	17	SNP	0.003	T
MED1	5469	genome.wustl.edu	37	17	37566857	37566857	+	Silent	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr17:37566857G>A	ENST00000394287.3	-	17	1822	c.1617C>T	c.(1615-1617)aaC>aaT	p.N539N	MED1_ENST00000300651.6_Silent_p.N539N			O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CCGGGGGCAGGTTCTTTTTCA	0.542										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													106.0	101.0	103.0					17																	37566857		2203	4300	6503	SO:0001819	synonymous_variant	0			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.1617C>T	17.37:g.37566857G>A			B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	pfam_Mediator_Med1_met/fun	p.N539	ENST00000394287.3	37	c.1617		17																																																																																			MED1	-	NULL	ENSG00000125686		0.542	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256944.1	-	0.00	28	0	G	NM_004774		37566857	-1	tier1	-	no_errors	ENST00000300651	ensembl	human	known	74_37	silent	48.89	23	22	SNP	1.000	A
MGAM	8972	genome.wustl.edu	37	7	141705417	141705417	+	Silent	SNP	T	T	C			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr7:141705417T>C	ENST00000549489.2	+	2	182	c.87T>C	c.(85-87)gtT>gtC	p.V29V	MGAM_ENST00000475668.2_Silent_p.V29V	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	29					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCAGTATTGTTCTAATTGTGC	0.358																																																	0													110.0	104.0	106.0					7																	141705417		1855	4099	5954	SO:0001819	synonymous_variant	0			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.87T>C	7.37:g.141705417T>C			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.V29	ENST00000549489.2	37	c.87	CCDS47727.1	7																																																																																			MGAM	-	NULL	ENSG00000257335		0.358	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	-	0.00	47	0	T			141705417	+1	tier1	-	no_errors	ENST00000549489	ensembl	human	known	74_37	silent	10.87	40	5	SNP	0.002	C
MUC16	94025	genome.wustl.edu	37	19	9085944	9085944	+	Silent	SNP	G	G	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr19:9085944G>T	ENST00000397910.4	-	1	6074	c.5871C>A	c.(5869-5871)atC>atA	p.I1957I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1957	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGCTGAGTTGATGTCTGGTC	0.463																																																	0													220.0	219.0	219.0					19																	9085944		2100	4228	6328	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5871C>A	19.37:g.9085944G>T			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.I1957	ENST00000397910.4	37	c.5871	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	44	0	G	NM_024690		9085944	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.081	T
MYCT1	80177	genome.wustl.edu	37	6	153019103	153019103	+	Missense_Mutation	SNP	T	T	G	rs3841162|rs199760621|rs71713548	byFrequency	TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr6:153019103T>G	ENST00000367245.5	+	1	74	c.66T>G	c.(64-66)gaT>gaG	p.D22E	MYCT1_ENST00000529453.1_Missense_Mutation_p.D22E	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	22						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TACAAAGAGATAGAATCAAAC	0.308																																																	0													73.0	77.0	75.0					6																	153019103		2187	4296	6483	SO:0001583	missense	0			AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.66T>G	6.37:g.153019103T>G	ENSP00000356214:p.Asp22Glu		Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	NULL	p.D22E	ENST00000367245.5	37	c.66	CCDS5239.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.265|2.265	-0.368429|-0.368429	0.05069|0.05069	.|.	.|.	ENSG00000120279|ENSG00000120279	ENST00000367245;ENST00000529453|ENST00000532295	T|.	0.34859|.	1.34|.	5.49|5.49	3.11|3.11	0.35812|0.35812	.|.	1.427460|.	0.05000|.	N|.	0.468965|.	T|T	0.06325|0.06325	0.0163|0.0163	N|N	0.08118|0.08118	0|0	0.20074|0.20074	N|N	0.999935|0.999935	B|.	0.10296|.	0.003|.	B|.	0.13407|.	0.009|.	T|T	0.39702|0.39702	-0.9601|-0.9601	10|5	0.10902|.	T|.	0.67|.	.|.	7.8379|7.8379	0.29380|0.29380	0.0:0.2522:0.0:0.7478|0.0:0.2522:0.0:0.7478	.|.	22|.	Q8N699|.	MYCT1_HUMAN|.	E|R	22|3	ENSP00000356214:D22E|.	ENSP00000356214:D22E|.	D|I	+|+	3|2	2|0	MYCT1|MYCT1	153060796|153060796	0.113000|0.113000	0.22115|0.22115	0.991000|0.991000	0.47740|0.47740	0.813000|0.813000	0.45954|0.45954	0.774000|0.774000	0.26675|0.26675	0.392000|0.392000	0.25172|0.25172	0.528000|0.528000	0.53228|0.53228	GAT|ATA	MYCT1	-	NULL	ENSG00000120279		0.308	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYCT1	HGNC	protein_coding	OTTHUMT00000042750.2		0.00	38	0	T	NM_025107		153019103	+1			no_errors	ENST00000367245	ensembl	human	known	74_37	missense	8.00	44	4	SNP	0.956	G
MYH13	8735	genome.wustl.edu	37	17	10267795	10267795	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr17:10267795C>T	ENST00000418404.3	-	2	216	c.53G>A	c.(52-54)cGg>cAg	p.R18Q	MYH13_ENST00000252172.4_Missense_Mutation_p.R18Q			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	18					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTCTGGTTTCCGGAGGTAGGG	0.493																																																	0													86.0	80.0	81.0					17																	10267795		1917	4136	6053	SO:0001583	missense	0			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.53G>A	17.37:g.10267795C>T	ENSP00000404570:p.Arg18Gln		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R18Q	ENST00000418404.3	37	c.53	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.109212	0.94292	.	.	ENSG00000006788	ENST00000252172	D	0.86694	-2.16	4.69	3.72	0.42706	.	.	.	.	.	D	0.92639	0.7661	M	0.92122	3.275	0.39004	D	0.959411	D	0.64830	0.994	P	0.53722	0.733	D	0.94506	0.7714	9	0.62326	D	0.03	.	13.4236	0.61011	0.0:0.9239:0.0:0.0761	.	18	Q9UKX3	MYH13_HUMAN	Q	18	ENSP00000252172:R18Q	ENSP00000252172:R18Q	R	-	2	0	MYH13	10208520	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	7.580000	0.82523	1.334000	0.45468	0.655000	0.94253	CGG	MYH13	-	NULL	ENSG00000006788		0.493	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	-	0.00	41	0	C	NM_003802		10267795	-1	tier1	-	no_errors	ENST00000252172	ensembl	human	known	74_37	missense	68.00	16	34	SNP	1.000	T
MYLK	4638	genome.wustl.edu	37	3	123356985	123356985	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr3:123356985C>A	ENST00000475616.1	-	26	4893	c.4894G>T	c.(4894-4896)Gtg>Ttg	p.V1632L	MYLK_ENST00000359169.1_Missense_Mutation_p.V1632L|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.V1632L|MYLK_ENST00000346322.5_Missense_Mutation_p.V1563L|MYLK_ENST00000354792.5_Missense_Mutation_p.V432L|MYLK_ENST00000360772.3_Missense_Mutation_p.V1632L			Q15746	MYLK_HUMAN	myosin light chain kinase	1632	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TAGTTGATCACTTCAGGAGCC	0.547																																																	0													73.0	67.0	69.0					3																	123356985		2203	4300	6503	SO:0001583	missense	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4894G>T	3.37:g.123356985C>A	ENSP00000418335:p.Val1632Leu		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V1632L	ENST00000475616.1	37	c.4894	CCDS46896.1	3	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837174	0.71373	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.13	4.26	0.50523	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.52224	0.1721	L	0.33792	1.035	0.53005	D	0.99996	B;P;B;P;B	0.44044	0.037;0.825;0.16;0.523;0.046	B;B;B;B;B	0.33846	0.057;0.171;0.09;0.171;0.095	T	0.58405	-0.7642	9	0.72032	D	0.01	.	13.593	0.61971	0.0:0.9248:0.0:0.0752	.	1632;1563;1632;1563;1632	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	L	1632;1632;1632;1563;432;1632	ENSP00000354004:V1632L;ENSP00000353452:V1632L;ENSP00000352088:V1632L;ENSP00000320622:V1563L;ENSP00000346846:V432L;ENSP00000418335:V1632L	ENSP00000320622:V1563L	V	-	1	0	MYLK	124839675	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.747000	0.85070	1.168000	0.42723	0.455000	0.32223	GTG	MYLK	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000065534		0.547	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	-	0.00	72	0	C	NM_053025		123356985	-1	tier1	-	no_errors	ENST00000360304	ensembl	human	known	74_37	missense	43.08	37	28	SNP	1.000	A
NBAS	51594	genome.wustl.edu	37	2	15307195	15307195	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr2:15307195G>T	ENST00000281513.5	-	52	7118	c.7093C>A	c.(7093-7095)Cgc>Agc	p.R2365S	NBAS_ENST00000441750.1_Missense_Mutation_p.R2245S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2365					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGTGCTGCGCGGAGGGCTGTA	0.602																																																	0													45.0	50.0	48.0					2																	15307195		2203	4300	6503	SO:0001583	missense	0			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.7093C>A	2.37:g.15307195G>T	ENSP00000281513:p.Arg2365Ser		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.R2365S	ENST00000281513.5	37	c.7093	CCDS1685.1	2	.	.	.	.	.	.	.	.	.	.	G	0.059	-1.229647	0.01518	.	.	ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000433283	T;T	0.09073	3.02;3.19	5.49	-11.0	0.00169	.	0.820229	0.11796	N	0.528650	T	0.01730	0.0055	N	0.01267	-0.92	0.09310	N	1	B;B	0.23377	0.084;0.0	B;B	0.19391	0.025;0.001	T	0.44544	-0.9321	10	0.87932	D	0	.	2.9051	0.05718	0.1591:0.3546:0.2745:0.2118	.	2245;2365	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	S	2245;2365;178	ENSP00000413201:R2245S;ENSP00000281513:R2365S	ENSP00000281513:R2365S	R	-	1	0	NBAS	15224646	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.428000	0.06991	-2.330000	0.00633	-2.736000	0.00129	CGC	NBAS	-	NULL	ENSG00000151779		0.602	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1		0.00	19	0	G	NM_015909		15307195	-1			no_errors	ENST00000281513	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.000	T
NBAS	51594	genome.wustl.edu	37	2	15608590	15608590	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr2:15608590G>A	ENST00000281513.5	-	17	1818	c.1793C>T	c.(1792-1794)gCt>gTt	p.A598V	NBAS_ENST00000441750.1_Missense_Mutation_p.A598V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	598					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTCTTTTGCAGCATCCACATT	0.418																																																	0													127.0	126.0	126.0					2																	15608590		2203	4300	6503	SO:0001583	missense	0			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.1793C>T	2.37:g.15608590G>A	ENSP00000281513:p.Ala598Val		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.A598V	ENST00000281513.5	37	c.1793	CCDS1685.1	2	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720447	0.89205	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.11821	2.74;2.9	5.93	5.93	0.95920	.	0.052012	0.85682	D	0.000000	T	0.42131	0.1189	M	0.76170	2.325	0.41436	D	0.98789	D	0.89917	1.0	D	0.83275	0.996	T	0.17992	-1.0351	10	0.87932	D	0	.	20.3311	0.98718	0.0:0.0:1.0:0.0	.	598	A2RRP1	NBAS_HUMAN	V	598	ENSP00000413201:A598V;ENSP00000281513:A598V	ENSP00000281513:A598V	A	-	2	0	NBAS	15526041	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	9.869000	0.99810	2.803000	0.96430	0.650000	0.86243	GCT	NBAS	-	NULL	ENSG00000151779		0.418	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	-	0.00	60	0	G	NM_015909		15608590	-1	tier1	-	no_errors	ENST00000281513	ensembl	human	known	74_37	missense	5.33	70	4	SNP	1.000	A
NEB	4703	genome.wustl.edu	37	2	152435902	152435902	+	Intron	SNP	C	C	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr2:152435902C>T	ENST00000172853.10	-	78	11749				NEB_ENST00000427231.2_Missense_Mutation_p.D5552N|NEB_ENST00000604864.1_Missense_Mutation_p.D5552N|NEB_ENST00000603639.1_Missense_Mutation_p.D5552N|NEB_ENST00000409198.1_Intron|NEB_ENST00000397345.3_Missense_Mutation_p.D5552N			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCATTCTGGTCGGGAAAGCAA	0.552																																																	0													271.0	200.0	222.0					2																	152435902		692	1583	2275	SO:0001627	intron_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11602-3034G>A	2.37:g.152435902C>T			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.D5552N	ENST00000172853.10	37	c.16654		2	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652339	0.67472	.	.	ENSG00000183091	ENST00000397345;ENST00000427231;ENST00000413693	T;T;T	0.33865	1.39;1.39;1.39	4.95	4.95	0.65309	.	.	.	.	.	T	0.64316	0.2587	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68519	-0.5387	9	0.72032	D	0.01	.	18.7406	0.91772	0.0:1.0:0.0:0.0	.	282	Q14215	.	N	5552;5552;282	ENSP00000380505:D5552N;ENSP00000416578:D5552N;ENSP00000410961:D282N	ENSP00000380505:D5552N	D	-	1	0	NEB	152144148	1.000000	0.71417	0.991000	0.47740	0.458000	0.32498	7.604000	0.82830	2.733000	0.93635	0.514000	0.50259	GAC	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.552	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0.00	84	0	C	NM_004543		152435902	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	18.27	84	19	SNP	1.000	T
NFE2L2	4780	genome.wustl.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr2:178098810C>G	ENST00000397062.3	-	2	789	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63Q|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	20	Substitution - Missense(20)	lung(13)|oesophagus(4)|upper_aerodigestive_tract(1)|urinary_tract(1)|cervix(1)											147.0	146.0	146.0					2																	178098810		1899	4107	6006	SO:0001583	missense	0				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.235G>C	2.37:g.178098810C>G	ENSP00000380252:p.Glu79Gln		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.E79Q	ENST00000397062.3	37	c.235	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647218	0.67358	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.996;0.994;0.998;0.996	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	63;63;63;79	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	Q	63;79;63;63;63;63;63	ENSP00000380253:E63Q;ENSP00000380252:E79Q;ENSP00000411575:E63Q;ENSP00000391590:E63Q;ENSP00000400073:E63Q;ENSP00000412191:E63Q;ENSP00000410015:E63Q	ENSP00000380252:E79Q	E	-	1	0	NFE2L2	177807056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.737000	0.93849	0.563000	0.77884	GAG	NFE2L2	-	NULL	ENSG00000116044		0.443	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	-	0.00	66	0	C	NM_006164		178098810	-1	tier1	-	no_errors	ENST00000397062	ensembl	human	known	74_37	missense	50.89	55	57	SNP	1.000	G
NLRP14	338323	genome.wustl.edu	37	11	7060994	7060994	+	Silent	SNP	A	A	G			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr11:7060994A>G	ENST00000299481.4	+	3	685	c.339A>G	c.(337-339)caA>caG	p.Q113Q		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	113					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GAGAGACACAAGAAGATCAGG	0.473																																																	0													196.0	192.0	193.0					11																	7060994		2201	4296	6497	SO:0001819	synonymous_variant	0			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.339A>G	11.37:g.7060994A>G			Q7RTR6	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.Q113	ENST00000299481.4	37	c.339	CCDS7776.1	11																																																																																			NLRP14	-	NULL	ENSG00000158077		0.473	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP14	HGNC	protein_coding	OTTHUMT00000384551.1	-	0.00	47	0	A	NM_176822		7060994	+1	tier1	-	no_errors	ENST00000299481	ensembl	human	known	74_37	silent	46.15	21	18	SNP	0.000	G
NNMT	4837	genome.wustl.edu	37	11	114168879	114168879	+	Splice_Site	SNP	A	A	G			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr11:114168879A>G	ENST00000535401.1	+	4	625	c.361A>G	c.(361-363)Aga>Gga	p.R121G	RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000299964.3_Splice_Site_p.R121G|NNMT_ENST00000545255.1_5'UTR|NNMT_ENST00000542647.1_Intron			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	121					methylation (GO:0032259)|organ regeneration (GO:0031100)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	nicotinamide N-methyltransferase activity (GO:0008112)			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	TGAAGGGAACAGGTAGAGAAA	0.488																																																	0													95.0	93.0	94.0					11																	114168879		2201	4296	6497	SO:0001630	splice_region_variant	0			U08021	CCDS8368.1	11q23.1	2007-08-15					2.1.1.1		7861	protein-coding gene	gene with protein product		600008				8575745	Standard	NM_006169		Approved		uc001pos.1	P40261		ENST00000535401.1:c.362+1A>G	11.37:g.114168879A>G				Missense_Mutation	SNP	pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans	p.R121G	ENST00000535401.1	37	c.361	CCDS8368.1	11	.	.	.	.	.	.	.	.	.	.	A	8.735	0.917499	0.17982	.	.	ENSG00000166741	ENST00000535401;ENST00000299964	T;T	0.03386	3.95;3.95	5.11	2.75	0.32379	.	0.185240	0.36034	U	0.002838	T	0.03263	0.0095	L	0.29908	0.895	0.80722	D	1	B	0.26809	0.16	B	0.31191	0.125	T	0.52548	-0.8561	10	0.23891	T	0.37	-12.3219	8.1714	0.31258	0.8273:0.0:0.1727:0.0	.	121	P40261	NNMT_HUMAN	G	121	ENSP00000441434:R121G;ENSP00000299964:R121G	ENSP00000299964:R121G	R	+	1	2	NNMT	113674089	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.957000	0.49137	0.799000	0.34018	0.455000	0.32223	AGA	NNMT	-	pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans	ENSG00000166741		0.488	NNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NNMT	HGNC	protein_coding	OTTHUMT00000398951.1		0.00	65	0	A	NM_006169	Missense_Mutation	114168879	+1			no_errors	ENST00000299964	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	G
OPN4	94233	genome.wustl.edu	37	10	88415912	88415912	+	Splice_Site	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr10:88415912G>A	ENST00000241891.5	+	2	312	c.145G>A	c.(145-147)Gca>Aca	p.A49T	OPN4_ENST00000372071.2_Splice_Site_p.A49T	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	49					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CTCTCCGCAGGCACCTGGGAC	0.552																																																	0													101.0	91.0	95.0					10																	88415912		2203	4300	6503	SO:0001630	splice_region_variant	0			AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.145-1G>A	10.37:g.88415912G>A			B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin	p.A49T	ENST00000241891.5	37	c.145	CCDS7376.1	10	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708102	0.30322	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.66995	-0.2;0.16;-0.24	5.24	3.35	0.38373	.	1.674940	0.02942	N	0.140578	T	0.56963	0.2021	L	0.37561	1.115	0.25920	N	0.983123	B;B;B	0.16396	0.01;0.002;0.017	B;B;B	0.12156	0.003;0.002;0.007	T	0.38112	-0.9676	9	.	.	.	.	5.4753	0.16692	0.3155:0.0:0.6845:0.0	.	49;49;49	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	T	49	ENSP00000361141:A49T;ENSP00000241891:A49T;ENSP00000393132:A49T	.	A	+	1	0	OPN4	88405892	0.804000	0.28969	0.700000	0.30305	0.549000	0.35272	1.391000	0.34475	1.191000	0.43056	0.561000	0.74099	GCA	OPN4	-	NULL	ENSG00000122375		0.552	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN4	HGNC	protein_coding	OTTHUMT00000049158.2	-	0.00	77	0	G	NM_033282	Missense_Mutation	88415912	+1	tier1	-	no_errors	ENST00000372071	ensembl	human	known	74_37	missense	41.11	53	37	SNP	0.779	A
NOC3L	64318	genome.wustl.edu	37	10	96117718	96117718	+	Intron	SNP	T	T	C			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr10:96117718T>C	ENST00000371361.3	-	3	451				NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Intron	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)						fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				AGCTAAATAATACTTTATTCT	0.299																																																	0																																										SO:0001627	intron_variant	0			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.350+121A>G	10.37:g.96117718T>C			Q9H5M6|Q9H9D8	RNA	SNP	-	NULL	ENST00000371361.3	37	NULL	CCDS7433.1	10																																																																																			NOC3L	-	-	ENSG00000173145		0.299	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOC3L	HGNC	protein_coding	OTTHUMT00000049466.1	-	0.00	30	0	T	NM_022451		96117718	-1	tier1	-	no_errors	ENST00000463649	ensembl	human	known	74_37	rna	45.95	20	17	SNP	0.000	C
OR10G2	26534	genome.wustl.edu	37	14	22102245	22102245	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr14:22102245C>T	ENST00000542433.1	-	1	851	c.754G>A	c.(754-756)Gtg>Atg	p.V252M		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		ACTGTGACCACGATTAGGTGG	0.547																																																	0													27.0	29.0	29.0					14																	22102245		2201	4297	6498	SO:0001583	missense	0				CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.754G>A	14.37:g.22102245C>T	ENSP00000445383:p.Val252Met		B2RPD0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V252M	ENST00000542433.1	37	c.754	CCDS32047.1	14	.	.	.	.	.	.	.	.	.	.	C	7.184	0.590145	0.13812	.	.	ENSG00000255582	ENST00000542433	T	0.00277	8.34	3.92	3.92	0.45320	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36740	N	0.002428	T	0.00328	0.0010	M	0.89414	3.03	0.27035	N	0.964144	P	0.46064	0.872	B	0.36134	0.218	T	0.38134	-0.9675	10	0.66056	D	0.02	-11.8582	13.4661	0.61254	0.0:1.0:0.0:0.0	.	252	Q8NGC3	O10G2_HUMAN	M	252	ENSP00000445383:V252M	ENSP00000445383:V252M	V	-	1	0	OR10G2	21172085	0.006000	0.16342	0.894000	0.35097	0.034000	0.12701	0.953000	0.29162	2.027000	0.59764	0.557000	0.71058	GTG	OR10G2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000255582		0.547	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G2	HGNC	protein_coding	OTTHUMT00000401525.1	-	0.00	54	0	C			22102245	-1	tier1	-	no_errors	ENST00000542433	ensembl	human	known	74_37	missense	6.31	104	7	SNP	0.880	T
OR8I2	120586	genome.wustl.edu	37	11	55861518	55861518	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr11:55861518G>T	ENST00000302124.2	+	1	766	c.735G>T	c.(733-735)atG>atT	p.M245I		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CCCACCTCATGGCTGTAACTA	0.488																																																	0													146.0	138.0	141.0					11																	55861518		2201	4296	6497	SO:0001583	missense	0			AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.735G>T	11.37:g.55861518G>T	ENSP00000303864:p.Met245Ile		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M245I	ENST00000302124.2	37	c.735	CCDS31517.1	11	.	.	.	.	.	.	.	.	.	.	G	0.057	-1.234687	0.01505	.	.	ENSG00000172154	ENST00000302124	T	0.34472	1.36	4.33	-8.65	0.00870	GPCR, rhodopsin-like superfamily (1);	1.214100	0.06222	N	0.686969	T	0.09862	0.0242	N	0.02158	-0.66	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18777	-1.0326	10	0.21014	T	0.42	1.0735	2.8024	0.05418	0.2073:0.1683:0.4563:0.1681	.	245	Q8N0Y5	OR8I2_HUMAN	I	245	ENSP00000303864:M245I	ENSP00000303864:M245I	M	+	3	0	OR8I2	55618094	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.468000	0.00992	-2.409000	0.00572	-2.421000	0.00218	ATG	OR8I2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172154		0.488	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8I2	HGNC	protein_coding			0.00	36	0	G	NM_001003750		55861518	+1			no_errors	ENST00000302124	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.000	T
OTUD7A	161725	genome.wustl.edu	37	15	31822940	31822940	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr15:31822940C>T	ENST00000307050.4	-	4	714	c.622G>A	c.(622-624)Ggg>Agg	p.G208R	OTUD7A_ENST00000382902.1_Missense_Mutation_p.G208R	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	208	Catalytic. {ECO:0000250}.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		AGGCAGTTCCCATCCCCTGTT	0.532																																																	0													138.0	108.0	118.0					15																	31822940		2201	4300	6501	SO:0001583	missense	0			AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.622G>A	15.37:g.31822940C>T	ENSP00000305926:p.Gly208Arg		Q8IWK5	Missense_Mutation	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.G208R	ENST00000307050.4	37	c.622	CCDS10026.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.442685	0.96187	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.70045	-0.45;-0.45	6.06	6.06	0.98353	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	D	0.86397	0.5923	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87665	0.2537	10	0.87932	D	0	-42.5939	20.6397	0.99537	0.0:1.0:0.0:0.0	.	208;208	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	R	208	ENSP00000305926:G208R;ENSP00000372358:G208R	ENSP00000305926:G208R	G	-	1	0	OTUD7A	29610232	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.992000	0.76238	2.880000	0.98712	0.650000	0.86243	GGG	OTUD7A	-	pfam_OTU,pfscan_OTU	ENSG00000169918		0.532	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7A	HGNC	protein_coding	OTTHUMT00000251393.2	-	0.00	82	0	C	NM_130901		31822940	-1	tier1	-	no_errors	ENST00000382902	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T
PANX1	24145	genome.wustl.edu	37	11	93911580	93911580	+	Frame_Shift_Del	DEL	C	C	-			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr11:93911580delC	ENST00000227638.3	+	3	752	c.367delC	c.(367-369)cccfs	p.P124fs	PANX1_ENST00000436171.2_Frame_Shift_Del_p.P124fs	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	124					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	CCTGTACCTGCCCCCGCTGTT	0.463																																																	0													158.0	123.0	135.0					11																	93911580		2201	4298	6499	SO:0001589	frameshift_variant	0			AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"""Ion channels / Pannexins"""	8599	protein-coding gene	gene with protein product	"""innexin"""	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.367delC	11.37:g.93911580delC	ENSP00000227638:p.Pro124fs		O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Frame_Shift_Del	DEL	pfam_Innexin,pfscan_Innexin	p.P124fs	ENST00000227638.3	37	c.367	CCDS8296.1	11																																																																																			PANX1	-	pfam_Innexin,pfscan_Innexin	ENSG00000110218		0.463	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PANX1	HGNC	protein_coding	OTTHUMT00000396121.1		0.00	26	0	C	NM_015368		93911580	+1	tier1		no_errors	ENST00000227638	ensembl	human	known	74_37	frame_shift_del	5.71	33	2	DEL	1.000	-
PCDH10	57575	genome.wustl.edu	37	4	134072084	134072084	+	Silent	SNP	T	T	C			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr4:134072084T>C	ENST00000264360.5	+	1	1615	c.789T>C	c.(787-789)tcT>tcC	p.S263S	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	263	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CAGAGAACTCTCCCCCAGGCA	0.622																																																	0													91.0	89.0	90.0					4																	134072084		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.789T>C	4.37:g.134072084T>C			Q4W5F6|Q96SF0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S263	ENST00000264360.5	37	c.789	CCDS34063.1	4																																																																																			PCDH10	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000138650		0.622	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	-	0.00	32	0	T	NM_032961		134072084	+1	tier1	-	no_errors	ENST00000264360	ensembl	human	known	74_37	silent	11.43	31	4	SNP	0.686	C
PLD4	122618	genome.wustl.edu	37	14	105398216	105398216	+	Frame_Shift_Del	DEL	C	C	-			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr14:105398216delC	ENST00000392593.4	+	8	1218	c.1050delC	c.(1048-1050)cacfs	p.H350fs	PLD4_ENST00000553861.1_5'Flank|PLD4_ENST00000540372.1_Frame_Shift_Del_p.H357fs	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	350					glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			GCTTCAGCCACCCCCCGAGGT	0.687																																																	0													14.0	17.0	16.0					14																	105398216		1976	4126	6102	SO:0001589	frameshift_variant	0				CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 175"""	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.1050delC	14.37:g.105398216delC	ENSP00000376372:p.His350fs		Q6UWD2	Frame_Shift_Del	DEL	pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase	p.P352fs	ENST00000392593.4	37	c.1050	CCDS9995.2	14																																																																																			PLD4	-	NULL	ENSG00000166428		0.687	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLD4	HGNC	protein_coding	OTTHUMT00000291348.2		0.00	49	0	C	NM_138790		105398216	+1			no_errors	ENST00000392593	ensembl	human	known	74_37	frame_shift_del	8.86	72	7	DEL	0.962	0
PROL1	58503	genome.wustl.edu	37	4	71275204	71275205	+	Nonsense_Mutation	DNP	TG	TG	AA			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T|G	T|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr4:71275204_71275205TG>AA	ENST00000399575.2	+	3	333_334	c.159_160TG>AA	c.(157-162)taTGac>taAAac	p.53_54YD>*N	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	53	Pro-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CACCTCCCTATGACTCAAGACT	0.495																																																	0																																										SO:0001587	stop_gained	0			S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"""proline rich 1"""			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	Exception_encountered	4.37:g.71275204_71275205delinsAA	ENSP00000382485:p.Y53_D54delins*N		A8MZ07|P85047	Nonsense_Mutation|Missense_Mutation	SNP	NULL	p.Y53*|p.D54N	ENST00000399575.2	37	c.159|c.160	CCDS43235.1	4																																																																																			PROL1	-	NULL	ENSG00000171199		0.495	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	PROL1	HGNC	protein_coding	OTTHUMT00000362639.1	-	0.00	35	0	T|G	NM_021225		71275204|71275205	+1	tier1	-	no_errors	ENST00000399575	ensembl	human	putative	74_37	nonsense|missense	66.67|69.44	11	22|25	SNP	0.000	A
PRSS16	10279	genome.wustl.edu	37	6	27215748	27215748	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr6:27215748C>T	ENST00000230582.3	+	2	173	c.158C>T	c.(157-159)gCt>gTt	p.A53V	PRSS16_ENST00000421826.2_Missense_Mutation_p.A53V	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	53					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGGCCAGGTGCTGCAGCCCTC	0.642																																					NSCLC(178;1118 2105 17078 23587 44429)												0													47.0	47.0	47.0					6																	27215748		2203	4300	6503	SO:0001583	missense	0			AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.158C>T	6.37:g.27215748C>T	ENSP00000230582:p.Ala53Val		O75416	Missense_Mutation	SNP	pfam_Peptidase_S28	p.A53V	ENST00000230582.3	37	c.158	CCDS4623.1	6	.	.	.	.	.	.	.	.	.	.	c	11.01	1.512897	0.27123	.	.	ENSG00000112812	ENST00000421826;ENST00000230582;ENST00000343467;ENST00000348953	T;T	0.45668	0.89;2.47	2.54	1.66	0.24008	.	1.160040	0.06580	N	0.750147	T	0.09024	0.0223	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.30119	-0.9989	10	0.27082	T	0.32	-0.4867	5.3521	0.16042	0.0:0.8352:0.0:0.1648	.	53;53	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	V	53	ENSP00000404349:A53V;ENSP00000230582:A53V	ENSP00000230582:A53V	A	+	2	0	PRSS16	27323727	0.000000	0.05858	0.001000	0.08648	0.270000	0.26580	-1.395000	0.02516	0.650000	0.30769	0.563000	0.77884	GCT	PRSS16	-	NULL	ENSG00000112812		0.642	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS16	HGNC	protein_coding	OTTHUMT00000043418.2		0.00	40	0	C			27215748	+1			no_errors	ENST00000230582	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.001	T
PRSS3	5646	genome.wustl.edu	37	9	33794809	33794809	+	Intron	SNP	G	G	A	rs201061108		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr9:33794809G>A	ENST00000361005.5	+	2	211				PRSS3_ENST00000429677.3_Intron|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_5'Flank|PRSS3_ENST00000342836.4_Missense_Mutation_p.S7N	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3						cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			AGAGAGACAAGTGGCTTCACA	0.502																																																	0																																										SO:0001627	intron_variant	0				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.212-1832G>A	9.37:g.33794809G>A			A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.S7N	ENST00000361005.5	37	c.20	CCDS47958.1	9	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.932356	0.00488	.	.	ENSG00000010438	ENST00000457896;ENST00000342836	D;D	0.88741	-2.29;-2.42	1.75	-2.5	0.06384	.	.	.	.	.	T	0.69260	0.3091	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59096	-0.7518	9	0.02654	T	1	.	5.9988	0.19509	0.4674:0.0:0.5326:0.0	.	7	P35030-4	.	N	5;7	ENSP00000401249:S5N;ENSP00000340889:S7N	ENSP00000340889:S7N	S	+	2	0	PRSS3	33784809	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	-1.129000	0.03244	-0.673000	0.05259	-1.096000	0.02151	AGT	PRSS3	-	NULL	ENSG00000010438		0.502	PRSS3-003	KNOWN	basic|CCDS	protein_coding	PRSS3	HGNC	protein_coding	OTTHUMT00000052121.1		0.00	38	0	G	NM_002771		33794809	+1			no_errors	ENST00000342836	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.000	A
PTPRD	5789	genome.wustl.edu	37	9	8518250	8518250	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr9:8518250C>A	ENST00000381196.4	-	18	1684	c.1141G>T	c.(1141-1143)Gct>Tct	p.A381S	PTPRD_ENST00000360074.4_Missense_Mutation_p.A368S|PTPRD_ENST00000358503.5_Missense_Mutation_p.A368S|PTPRD_ENST00000355233.5_Missense_Mutation_p.A381S|PTPRD_ENST00000540109.1_Missense_Mutation_p.A381S|PTPRD_ENST00000537002.1_Missense_Mutation_p.A378S|PTPRD_ENST00000397606.3_Missense_Mutation_p.A371S|PTPRD_ENST00000397611.3_Missense_Mutation_p.A378S|PTPRD_ENST00000486161.1_Missense_Mutation_p.A381S|PTPRD_ENST00000356435.5_Missense_Mutation_p.A381S|PTPRD_ENST00000397617.3_Missense_Mutation_p.A371S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	381	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTTAGTCCAGCGACACTGTAG	0.468										TSP Lung(15;0.13)																																							0													141.0	143.0	142.0					9																	8518250		2203	4300	6503	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1141G>T	9.37:g.8518250C>A	ENSP00000370593:p.Ala381Ser		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.A381S	ENST00000381196.4	37	c.1141	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	3.906	-0.021096	0.07634	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.16	5.16	0.70880	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.055458	0.64402	D	0.000001	T	0.37972	0.1023	N	0.02120	-0.675	0.58432	D	0.999998	B;B;B;B;B;B;B;P;B	0.46912	0.386;0.102;0.044;0.073;0.005;0.084;0.382;0.886;0.436	B;B;B;B;B;B;B;P;B	0.50490	0.239;0.168;0.053;0.083;0.03;0.068;0.189;0.642;0.168	T	0.46884	-0.9159	9	.	.	.	.	18.6464	0.91411	0.0:1.0:0.0:0.0	.	371;375;381;381;378;378;368;381;381	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	S	381;381;368;368;381;371;378;378;381;381;381;371	ENSP00000370593:A381S;ENSP00000348812:A381S;ENSP00000353187:A368S;ENSP00000351293:A368S;ENSP00000347373:A381S;ENSP00000380741:A371S;ENSP00000380735:A378S;ENSP00000440515:A378S;ENSP00000438164:A381S;ENSP00000417093:A381S;ENSP00000380731:A371S	.	A	-	1	0	PTPRD	8508250	1.000000	0.71417	0.967000	0.41034	0.229000	0.25112	7.770000	0.85390	2.392000	0.81423	0.460000	0.39030	GCT	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153707		0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3		0.00	22	0	C			8518250	-1			no_errors	ENST00000356435	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A
PRSS3	5646	genome.wustl.edu	37	9	33794812	33794812	+	Intron	SNP	G	G	T	rs199873220		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr9:33794812G>T	ENST00000361005.5	+	2	211				PRSS3_ENST00000429677.3_Intron|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_5'Flank|PRSS3_ENST00000342836.4_Missense_Mutation_p.G8V	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3						cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			GAGACAAGTGGCTTCACATTG	0.498																																																	0																																										SO:0001627	intron_variant	0				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.212-1829G>T	9.37:g.33794812G>T			A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.G8V	ENST00000361005.5	37	c.23	CCDS47958.1	9	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.320550	0.01320	.	.	ENSG00000010438	ENST00000457896;ENST00000342836	D;D	0.88509	-2.3;-2.39	2.24	-2.08	0.07254	.	.	.	.	.	T	0.72028	0.3410	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.56986	-0.7888	9	0.30854	T	0.27	.	3.8571	0.08981	0.0:0.1534:0.4698:0.3769	.	8	P35030-4	.	V	6;8	ENSP00000401249:G6V;ENSP00000340889:G8V	ENSP00000340889:G8V	G	+	2	0	PRSS3	33784812	0.000000	0.05858	0.000000	0.03702	0.199000	0.23934	-0.474000	0.06607	-0.454000	0.07066	-0.886000	0.02939	GGC	PRSS3	-	NULL	ENSG00000010438		0.498	PRSS3-003	KNOWN	basic|CCDS	protein_coding	PRSS3	HGNC	protein_coding	OTTHUMT00000052121.1		0.00	37	0	G	NM_002771		33794812	+1			no_errors	ENST00000342836	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.000	T
RAPGEF2	9693	genome.wustl.edu	37	4	160259537	160259537	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr4:160259537T>G	ENST00000264431.4	+	12	2146	c.1727T>G	c.(1726-1728)tTg>tGg	p.L576W		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	576					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CCAACTGCATTGCCTGTCAGT	0.413																																																	0													165.0	158.0	160.0					4																	160259537		2007	4188	6195	SO:0001583	missense	0			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.1727T>G	4.37:g.160259537T>G	ENSP00000264431:p.Leu576Trp		D3DP27	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,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.L576W	ENST00000264431.4	37	c.1727	CCDS43277.1	4	.	.	.	.	.	.	.	.	.	.	T	23.6	4.435983	0.83885	.	.	ENSG00000109756	ENST00000264431	T	0.41400	1.0	5.63	5.63	0.86233	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	L	0.47716	1.5	0.51767	D	0.999939	D	0.57899	0.981	P	0.54759	0.76	T	0.55101	-0.8193	10	0.87932	D	0	.	15.8522	0.78940	0.0:0.0:0.0:1.0	.	576	Q9Y4G8	RPGF2_HUMAN	W	576	ENSP00000264431:L576W	ENSP00000264431:L576W	L	+	2	0	RAPGEF2	160478987	1.000000	0.71417	0.672000	0.29872	0.989000	0.77384	7.698000	0.84413	2.144000	0.66660	0.528000	0.53228	TTG	RAPGEF2	-	superfamily_Ras_GEF_dom	ENSG00000109756		0.413	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	HGNC	protein_coding	OTTHUMT00000364980.2	-	0.00	87	0	T	NM_014247		160259537	+1	tier1	-	no_errors	ENST00000264431	ensembl	human	known	74_37	missense	75.76	16	50	SNP	0.975	G
RCCD1	91433	genome.wustl.edu	37	15	91500556	91500556	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr15:91500556G>C	ENST00000394258.2	+	3	582	c.380G>C	c.(379-381)gGt>gCt	p.G127A	AC068831.6_ENST00000553321.1_RNA|RCCD1_ENST00000556618.1_Missense_Mutation_p.G127A|RCCD1_ENST00000556774.1_Intron|RCCD1_ENST00000555155.1_Missense_Mutation_p.G127A	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	127						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(2)	4	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)			GATCCGGCCGGTGAGGCCCAG	0.721																																																	0													10.0	9.0	9.0					15																	91500556		1991	3941	5932	SO:0001583	missense	0				CCDS32333.1	15q26.1	2005-10-21	2005-10-21			ENSG00000166965			30457	protein-coding gene	gene with protein product						12477932	Standard	XM_006720763		Approved	MGC14386	uc002bqk.3	A6NED2		ENST00000394258.2:c.380G>C	15.37:g.91500556G>C	ENSP00000377801:p.Gly127Ala		B2RTP9|Q29RX6	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.G127A	ENST00000394258.2	37	c.380	CCDS32333.1	15	.	.	.	.	.	.	.	.	.	.	G	1.774	-0.483562	0.04383	.	.	ENSG00000166965	ENST00000394258;ENST00000555155;ENST00000556618	T;T;T	0.37058	1.22;1.23;1.22	3.52	-3.8	0.04307	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	2.603020	0.01679	N	0.026006	T	0.18425	0.0442	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.26815	-1.0092	10	0.62326	D	0.03	.	4.2703	0.10783	0.1115:0.5266:0.22:0.1419	.	127;127	G3V2I3;A6NED2	.;RCCD1_HUMAN	A	127	ENSP00000377801:G127A;ENSP00000450678:G127A;ENSP00000451963:G127A	ENSP00000377801:G127A	G	+	2	0	RCCD1	89301560	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-0.347000	0.07750	-0.404000	0.07610	0.555000	0.69702	GGT	RCCD1	-	superfamily_RCC1/BLIP-II	ENSG00000166965		0.721	RCCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RCCD1	HGNC	protein_coding	OTTHUMT00000414748.1	-	0.00	13	0	G	NM_033544		91500556	+1	tier1	-	no_errors	ENST00000394258	ensembl	human	known	74_37	missense	54.55	5	6	SNP	0.001	C
RSPH10B2	728194	genome.wustl.edu	37	7	6803577	6803577	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr7:6803577G>C	ENST00000403107.1	+	5	805	c.418G>C	c.(418-420)Gtc>Ctc	p.V140L	RSPH10B2_ENST00000433859.2_Missense_Mutation_p.V140L|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.V140L|RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000297186.3_Missense_Mutation_p.V140L|RSPH10B2_ENST00000463354.2_3'UTR			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	140										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						TGTGAAGAATGTCCCGATGAA	0.602																																																	0													31.0	29.0	29.0					7																	6803577		2193	4268	6461	SO:0001583	missense	0				CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.418G>C	7.37:g.6803577G>C	ENSP00000384766:p.Val140Leu		A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.V140L	ENST00000403107.1	37	c.418	CCDS43552.1	7	.	.	.	.	.	.	.	.	.	.	G	2.909	-0.225802	0.06022	.	.	ENSG00000169402	ENST00000403107;ENST00000404077;ENST00000297186;ENST00000433859	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	3.61	-2.29	0.06805	.	0.666605	0.14085	N	0.342443	T	0.19406	0.0466	N	0.16098	0.37	0.34203	D	0.673362	B	0.23249	0.082	B	0.21546	0.035	T	0.26916	-1.0089	10	0.10902	T	0.67	.	0.9673	0.01408	0.3576:0.1668:0.3127:0.1629	.	140	B2RC85	R10B2_HUMAN	L	140	ENSP00000384766:V140L;ENSP00000386102:V140L;ENSP00000297186:V140L;ENSP00000416710:V140L	ENSP00000297186:V140L	V	+	1	0	RSPH10B2	6770102	0.008000	0.16893	0.212000	0.23672	0.202000	0.24057	0.050000	0.14120	-0.644000	0.05465	-0.568000	0.04159	GTC	RSPH10B2	-	pfam_MORN,smart_MORN	ENSG00000169402		0.602	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH10B2	HGNC	protein_coding	OTTHUMT00000324184.4	-	0.00	109	0	G	NM_001099697		6803577	+1	tier1	-	no_errors	ENST00000297186	ensembl	human	known	74_37	missense	7.76	107	9	SNP	0.133	C
RYR2	6262	genome.wustl.edu	37	1	237617836	237617836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr1:237617836C>T	ENST00000366574.2	+	15	1755	c.1438C>T	c.(1438-1440)Cga>Tga	p.R480*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.R464*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.R478*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	480					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAACAGACTACGAGCCCTGAA	0.438																																																	0													72.0	72.0	72.0					1																	237617836		1899	4116	6015	SO:0001587	stop_gained	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1438C>T	1.37:g.237617836C>T	ENSP00000355533:p.Arg480*		Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.R478*	ENST00000366574.2	37	c.1432	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.515027	0.97629	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.8	2.46	0.29980	.	0.000000	0.49916	U	0.000122	.	.	.	.	.	.	0.42886	D	0.994188	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.201	0.86906	0.3943:0.6057:0.0:0.0	.	.	.	.	X	480;478;464	.	ENSP00000353174:R478X	R	+	1	2	RYR2	235684459	0.002000	0.14202	0.008000	0.14137	0.985000	0.73830	0.019000	0.13444	0.735000	0.32537	0.551000	0.68910	CGA	RYR2	-	pfam_Ca-rel_channel	ENSG00000198626		0.438	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0.00	51	0	C	NM_001035		237617836	+1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	nonsense	81.05	18	77	SNP	0.011	T
SAMD3	154075	genome.wustl.edu	37	6	130536494	130536495	+	Intron	INS	-	-	T	rs201491695|rs34071457|rs397887273|rs548706104|rs532851329|rs530501434	byFrequency	TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr6:130536494_130536495insT	ENST00000368134.2	-	5	588				SAMD3_ENST00000437477.2_Intron|SAMD3_ENST00000457563.2_Intron|SAMD3_ENST00000439090.2_Intron|SAMD3_ENST00000532763.1_Intron|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000324172.6_5'Flank	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3											breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TTGTGCCTTAATTTTTTTTTTA	0.347																																																	0																																										SO:0001627	intron_variant	0			AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.21-55->A	6.37:g.130536504_130536504dupT			B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	RNA	INS	-	NULL	ENST00000368134.2	37	NULL	CCDS34539.1	6																																																																																			SAMD3	-	-	ENSG00000164483		0.347	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD3	HGNC	protein_coding	OTTHUMT00000042197.3		0.00	15	0	-	NM_152552		130536495	-1	tier1		no_errors	ENST00000533296	ensembl	human	known	74_37	rna	15.79	16	3	INS	0.000:0.001	T
SCP2	6342	genome.wustl.edu	37	1	53516286	53516286	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr1:53516286C>A	ENST00000528311.1	+	15	1607	c.1311C>A	c.(1309-1311)ttC>ttA	p.F437L	SCP2_ENST00000407246.2_Missense_Mutation_p.F494L|SCP2_ENST00000371509.4_Missense_Mutation_p.F474L|SCP2_ENST00000488965.1_3'UTR|SCP2_ENST00000371514.3_Missense_Mutation_p.F518L|SCP2_ENST00000435345.2_Missense_Mutation_p.F114L|SCP2_ENST00000430330.2_Missense_Mutation_p.F111L|SCP2_ENST00000408941.3_3'UTR	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	0					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.F518L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CACAGGCCTTCTTTCAAGGCA	0.383																																																	1	Substitution - Missense(1)	large_intestine(1)											109.0	108.0	108.0					1																	53516286		2203	4300	6503	SO:0001583	missense	0			M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.1311C>A	1.37:g.53516286C>A	ENSP00000434132:p.Phe437Leu		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	pfam_SCP2_sterol-bd_dom,pfam_Thiolase_C,pfam_Thiolase_N,superfamily_Thiolase-like,superfamily_SCP2_sterol-bd_dom	p.F518L	ENST00000528311.1	37	c.1554	CCDS53319.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971734	0.74246	.	.	ENSG00000116171	ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246;ENST00000430330;ENST00000435345	T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81	5.76	4.85	0.62838	SCP2 sterol-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.52533	0.1740	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.63880	0.993;0.988;0.988;0.993	D;D;D;D	0.67548	0.952;0.952;0.945;0.952	T	0.60367	-0.7277	10	0.87932	D	0	-9.5537	13.8087	0.63250	0.0:0.9252:0.0:0.0748	.	494;474;111;518	C9JC79;A6NM69;E1B6W5;P22307	.;.;.;NLTP_HUMAN	L	518;437;474;494;111;114	ENSP00000360569:F518L;ENSP00000434132:F437L;ENSP00000360564:F474L;ENSP00000384569:F494L;ENSP00000406636:F111L;ENSP00000396413:F114L	ENSP00000360564:F474L	F	+	3	2	SCP2	53288874	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.036000	0.30228	1.567000	0.49668	0.650000	0.86243	TTC	SCP2	-	pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom	ENSG00000116171		0.383	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	SCP2	HGNC	protein_coding	OTTHUMT00000387558.1		0.00	42	0	C	NM_002979		53516286	+1			no_errors	ENST00000371514	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A
SGIP1	84251	genome.wustl.edu	37	1	67109265	67109267	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr1:67109265_67109267delGAA	ENST00000371037.4	+	7	399_401	c.322_324delGAA	c.(322-324)gaadel	p.E112del	SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000237247.6_In_Frame_Del_p.E116del|SGIP1_ENST00000371039.1_In_Frame_Del_p.E88del|SGIP1_ENST00000371035.3_In_Frame_Del_p.E69del|SGIP1_ENST00000371036.3_In_Frame_Del_p.E87del	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	112	Poly-Glu.		E -> Q (in dbSNP:rs17490057).		endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AAGTGAATCGGAAGAAGAAGAAG	0.345																																																	0										3,4263		0,3,2130						-10.6	0.2			81	12,8242		5,2,4120	no	coding	SGIP1	NM_032291.2		5,5,6250	A1A1,A1R,RR		0.1454,0.0703,0.1198				15,12505				SO:0001651	inframe_deletion	0			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.322_324delGAA	1.37:g.67109274_67109276delGAA	ENSP00000360076:p.Glu112del		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	In_Frame_Del	DEL	pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	p.E115in_frame_del	ENST00000371037.4	37	c.334_336	CCDS30744.1	1																																																																																			SGIP1	-	NULL	ENSG00000118473		0.345	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4		0.00	21	0	GAA	NM_032291		67109267	+1	tier1		no_errors	ENST00000237247	ensembl	human	known	74_37	in_frame_del	62.07	11	18	DEL	1.000:1.000:1.000	-
SIRPB2	284759	genome.wustl.edu	37	20	1471971	1471971	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr20:1471971G>A	ENST00000359801.3	-	1	71	c.35C>T	c.(34-36)gCc>gTc	p.A12V	AL109658.1_ENST00000580848.1_RNA|SIRPB2_ENST00000537284.1_5'UTR|SIRPB2_ENST00000444444.2_Missense_Mutation_p.A12V	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	8					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGGCAAGTGGGCCAGGCAGGT	0.622																																																	0													40.0	49.0	47.0					20																	1471971		1568	3582	5150	SO:0001583	missense	0			AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.35C>T	20.37:g.1471971G>A	ENSP00000352849:p.Ala12Val		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A12V	ENST00000359801.3	37	c.35	CCDS42849.1	20	.	.	.	.	.	.	.	.	.	.	G	8.121	0.780991	0.16120	.	.	ENSG00000196209	ENST00000359801;ENST00000444444;ENST00000381630;ENST00000381628	T;T;T	0.02498	4.59;4.3;4.27	3.29	-2.36	0.06663	.	2.100470	0.02193	N	0.061523	T	0.02304	0.0071	N	0.14661	0.345	0.19575	N	0.999965	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45862	-0.9232	10	0.33141	T	0.24	.	7.7251	0.28755	0.6523:0.0:0.3477:0.0	.	12;12	E9PCW6;Q5JXA9	.;SIRB2_HUMAN	V	12	ENSP00000352849:A12V;ENSP00000402438:A12V;ENSP00000371043:A12V	ENSP00000352849:A12V	A	-	2	0	SIRPB2	1419971	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.653000	0.01986	-0.483000	0.06772	-0.216000	0.12614	GCC	SIRPB2	-	NULL	ENSG00000196209		0.622	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRPB2	HGNC	protein_coding	OTTHUMT00000077544.1		0.00	41	0	G	NM_178459		1471971	-1			no_errors	ENST00000359801	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.000	A
SLC25A41	284427	genome.wustl.edu	37	19	6433618	6433618	+	Silent	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr19:6433618G>A	ENST00000321510.6	-	1	155	c.87C>T	c.(85-87)gcC>gcT	p.A29A	SLC25A23_ENST00000601760.1_5'Flank	NM_173637.3	NP_775908.2			solute carrier family 25, member 41											large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						ggggaggcggggCTTTGATGA	0.572																																																	0													51.0	50.0	50.0					19																	6433618		1904	4105	6009	SO:0001819	synonymous_variant	0			AK097761	CCDS45937.1	19p13.3	2013-05-22			ENSG00000181240	ENSG00000181240		"""Solute carriers"""	28533	protein-coding gene	gene with protein product		610822				16949250	Standard	NM_173637		Approved	FLJ40442, MGC34725, APC4	uc010dus.3	Q8N5S1		ENST00000321510.6:c.87C>T	19.37:g.6433618G>A				Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.A29	ENST00000321510.6	37	c.87	CCDS45937.1	19																																																																																			SLC25A41	-	NULL	ENSG00000181240		0.572	SLC25A41-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A41	HGNC	protein_coding	OTTHUMT00000462222.1	-	0.00	74	0	G	NM_173637		6433618	-1	tier1	-	no_errors	ENST00000321510	ensembl	human	known	74_37	silent	49.38	41	40	SNP	0.000	A
PABPC4	8761	genome.wustl.edu	37	1	40033068	40033068	+	Intron	SNP	C	C	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr1:40033068C>A	ENST00000372857.3	-	7	1765				RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372858.3_Intron|SNORA55_ENST00000364587.1_RNA|PABPC4_ENST00000529216.1_5'Flank|PABPC4_ENST00000372856.3_Intron|PABPC4_ENST00000372862.3_Intron	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)						blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCTGTAGAGACAGGCCCCAAG	0.483																																																	0													40.0	40.0	40.0					1																	40033068		876	1991	2867	SO:0001627	intron_variant	0			U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.972+354G>T	1.37:g.40033068C>A			B1ANQ8|Q4VC03|Q6P0N3	RNA	SNP	-	NULL	ENST00000372857.3	37	NULL	CCDS438.1	1																																																																																			SNORA55	-	-	ENSG00000201457		0.483	PABPC4-001	KNOWN	basic|CCDS	protein_coding	SNORA55	HGNC	protein_coding	OTTHUMT00000025220.1	-	0.00	49	0	C	NM_001135653		40033068	-1	tier1	-	no_errors	ENST00000364587	ensembl	human	known	74_37	rna	71.43	10	25	SNP	1.000	A
SOX6	55553	genome.wustl.edu	37	11	16071402	16071402	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr11:16071402T>C	ENST00000352083.6	-	11	1411	c.1334A>G	c.(1333-1335)cAg>cGg	p.Q445R	SOX6_ENST00000528429.1_Missense_Mutation_p.Q445R|SOX6_ENST00000316399.6_Missense_Mutation_p.Q445R|SOX6_ENST00000527619.1_Missense_Mutation_p.Q407R|SOX6_ENST00000528252.1_Missense_Mutation_p.Q404R|SOX6_ENST00000396356.3_Missense_Mutation_p.Q445R			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	445					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|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)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GAAGAGGTTCTGGGTGGGAGA	0.527																																																	0													235.0	240.0	238.0					11																	16071402		2200	4294	6494	SO:0001583	missense	0			AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1334A>G	11.37:g.16071402T>C	ENSP00000339876:p.Gln445Arg		Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.Q445R	ENST00000352083.6	37	c.1334		11	.	.	.	.	.	.	.	.	.	.	T	11.55	1.671606	0.29693	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.97791	-4.54;-4.53;-4.54;-4.51;-4.51;-4.53	6.02	4.88	0.63580	.	0.110121	0.64402	D	0.000004	D	0.95262	0.8463	L	0.50333	1.59	0.80722	D	1	P;B;P	0.42941	0.716;0.399;0.794	B;B;B	0.39840	0.311;0.147;0.31	D	0.93332	0.6702	10	0.12766	T	0.61	.	13.5123	0.61519	0.0:0.0:0.1303:0.8697	.	445;445;407	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	R	445;445;445;404;407;445	ENSP00000324948:Q445R;ENSP00000339876:Q445R;ENSP00000379644:Q445R;ENSP00000432134:Q404R;ENSP00000434455:Q407R;ENSP00000433233:Q445R	ENSP00000324948:Q445R	Q	-	2	0	SOX6	16027978	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.889000	0.56212	1.078000	0.41014	0.533000	0.62120	CAG	SOX6	-	NULL	ENSG00000110693		0.527	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	SOX6	HGNC	protein_coding	OTTHUMT00000386811.1	-	0.00	58	0	T	NM_033326		16071402	-1	tier1	-	no_errors	ENST00000352083	ensembl	human	known	74_37	missense	50.00	40	40	SNP	1.000	C
STK31	56164	genome.wustl.edu	37	7	23872028	23872028	+	3'UTR	DEL	G	G	-			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr7:23872028delG	ENST00000355870.3	+	0	3222				STK31_ENST00000354639.3_3'UTR|STK31_ENST00000428484.1_3'UTR|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31							acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TAAAAACTTTGGTTTGGTTAA	0.318																																																	0													17.0	21.0	20.0					7																	23872028		2179	4267	6446	SO:0001624	3_prime_UTR_variant	0			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.*43G>-	7.37:g.23872028delG			B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	RNA	DEL	-	NULL	ENST00000355870.3	37	NULL	CCDS5386.1	7																																																																																			STK31	-	-	ENSG00000196335		0.318	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK31	HGNC	protein_coding	OTTHUMT00000214036.2		0.00	10	0	G	NM_031414		23872028	+1	tier1		no_errors	ENST00000405627	ensembl	human	known	74_37	rna	37.50	5	3	DEL	0.097	-
TBCCD1	55171	genome.wustl.edu	37	3	186287935	186287935	+	5'UTR	SNP	G	G	C			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr3:186287935G>C	ENST00000424280.1	-	0	397				DNAJB11_ENST00000439351.1_Intron|TBCCD1_ENST00000338733.5_5'Flank|TBCCD1_ENST00000446782.1_Missense_Mutation_p.D3E|DNAJB11_ENST00000265028.3_5'Flank	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1						cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		ACTTAAGTCGGTCTGTCATCA	0.498																																																	0																																										SO:0001623	5_prime_UTR_variant	0			BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.-83C>G	3.37:g.186287935G>C			B3KW69|D3DNU6|G5E9J4	Missense_Mutation	SNP	pfam_Tubulin-bd_cofactor_C_dom,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif	p.D3E	ENST00000424280.1	37	c.9	CCDS3276.1	3	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615657	0.46631	.	.	ENSG00000113838	ENST00000446782	D	0.83992	-1.79	4.09	3.21	0.36854	.	.	.	.	.	T	0.76026	0.3930	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.74191	-0.3745	8	0.87932	D	0	.	9.9768	0.41789	0.0:0.206:0.794:0.0	.	3	G5E9J4	.	E	3	ENSP00000397091:D3E	ENSP00000397091:D3E	D	-	3	2	TBCCD1	187770629	0.221000	0.23642	0.802000	0.32245	0.021000	0.10359	1.775000	0.38584	1.294000	0.44707	0.407000	0.27541	GAC	TBCCD1	-	NULL	ENSG00000113838		0.498	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCCD1	HGNC	protein_coding	OTTHUMT00000344774.1	-	0.00	46	0	G	NM_018138		186287935	-1	tier1	-	no_errors	ENST00000446782	ensembl	human	putative	74_37	missense	27.45	74	28	SNP	0.855	C
TBX15	6913	genome.wustl.edu	37	1	119427370	119427370	+	Silent	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr1:119427370G>A	ENST00000369429.3	-	8	1803	c.1794C>T	c.(1792-1794)tcC>tcT	p.S598S	TBX15_ENST00000207157.3_Silent_p.S492S			Q96SF7	TBX15_HUMAN	T-box 15	598					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.S492S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CCATGTGCACGGACATCTGGG	0.547																																																	1	Substitution - coding silent(1)	lung(1)											75.0	71.0	72.0					1																	119427370		2203	4300	6503	SO:0001819	synonymous_variant	0			AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1794C>T	1.37:g.119427370G>A			Q08E76|Q5JT54|Q5T9S7	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.S492	ENST00000369429.3	37	c.1476		1																																																																																			TBX15	-	NULL	ENSG00000092607		0.547	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	TBX15	HGNC	protein_coding	OTTHUMT00000034351.1	-	0.00	68	0	G	NM_152380		119427370	-1	tier1	-	no_errors	ENST00000207157	ensembl	human	known	74_37	silent	10.64	42	5	SNP	0.002	A
TELO2	9894	genome.wustl.edu	37	16	1557008	1557008	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr16:1557008G>A	ENST00000262319.6	+	18	2461	c.2182G>A	c.(2182-2184)Gcg>Acg	p.A728T		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	728					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CGGAAGGCTGGCGCACACCTT	0.652																																																	0													67.0	51.0	57.0					16																	1557008		2198	4298	6496	SO:0001583	missense	0			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.2182G>A	16.37:g.1557008G>A	ENSP00000262319:p.Ala728Thr		D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold	p.A728T	ENST00000262319.6	37	c.2182	CCDS32363.1	16	.	.	.	.	.	.	.	.	.	.	G	7.124	0.578544	0.13686	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	T	0.13778	2.56	4.62	1.28	0.21552	.	0.730045	0.14385	N	0.322883	T	0.08846	0.0219	N	0.25144	0.715	0.21020	N	0.999805	B	0.02656	0.0	B	0.01281	0.0	T	0.29274	-1.0017	10	0.41790	T	0.15	-6.775	8.4153	0.32668	0.2558:0.0:0.7442:0.0	.	728	Q9Y4R8	TELO2_HUMAN	T	251;728	ENSP00000262319:A728T	ENSP00000262319:A728T	A	+	1	0	TELO2	1497009	0.506000	0.26139	0.928000	0.36995	0.518000	0.34316	0.759000	0.26461	0.378000	0.24764	-0.605000	0.04089	GCG	TELO2	-	superfamily_ARM-type_fold	ENSG00000100726		0.652	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TELO2	HGNC	protein_coding	OTTHUMT00000103602.2		0.00	60	0	G	NM_016111		1557008	+1			no_errors	ENST00000262319	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.925	A
TGFBR2	7048	genome.wustl.edu	37	3	30713885	30713885	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr3:30713885C>G	ENST00000295754.5	+	4	1592	c.1210C>G	c.(1210-1212)Ctg>Gtg	p.L404V	TGFBR2_ENST00000359013.4_Missense_Mutation_p.L429V	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	404	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TTCCCTGCGTCTGGACCCTAC	0.552																																																	0													284.0	253.0	263.0					3																	30713885		2203	4300	6503	SO:0001583	missense	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1210C>G	3.37:g.30713885C>G	ENSP00000295754:p.Leu404Val		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.L429V	ENST00000295754.5	37	c.1285	CCDS2648.1	3	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313494	0.60414	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	T;T	0.66460	-0.21;-0.21	5.13	2.31	0.28768	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73410	0.3583	L	0.48260	1.515	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.71371	-0.4613	10	0.48119	T	0.1	.	10.8799	0.46933	0.0:0.7902:0.0:0.2098	.	404;429	P37173;D2JYI1	TGFR2_HUMAN;.	V	404;429;234	ENSP00000295754:L404V;ENSP00000351905:L429V	ENSP00000295754:L404V	L	+	1	2	TGFBR2	30688889	0.953000	0.32496	0.899000	0.35326	0.997000	0.91878	2.190000	0.42630	0.553000	0.29044	0.650000	0.86243	CTG	TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	ENSG00000163513		0.552	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	-	0.00	21	0	C			30713885	+1	tier1	-	no_errors	ENST00000359013	ensembl	human	known	74_37	missense	80.95	4	17	SNP	0.976	G
TGM6	343641	genome.wustl.edu	37	20	2378611	2378611	+	Silent	SNP	C	C	T	rs564481002		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr20:2378611C>T	ENST00000202625.2	+	5	652	c.591C>T	c.(589-591)agC>agT	p.S197S	TGM6_ENST00000381423.1_Silent_p.S197S|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	197					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TGGATCGAAGCCCCGGTCACC	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		15961	0.001		0.0	False		,,,				2504	0.0																0													153.0	110.0	124.0					20																	2378611		2203	4300	6503	SO:0001819	synonymous_variant	0			AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.591C>T	20.37:g.2378611C>T			Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.S197	ENST00000202625.2	37	c.591	CCDS13025.1	20																																																																																			TGM6	-	NULL	ENSG00000166948		0.582	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM6	HGNC	protein_coding	OTTHUMT00000077581.2	-	0.00	44	0	C	NM_198994		2378611	+1	tier1	-	no_errors	ENST00000202625	ensembl	human	known	74_37	silent	47.06	45	40	SNP	0.994	T
THBD	7056	genome.wustl.edu	37	20	23029775	23029775	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr20:23029775C>T	ENST00000377103.2	-	1	603	c.367G>A	c.(367-369)Gca>Aca	p.A123T		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	123	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	TCGAGCCGTGCCCACCTGCTA	0.692																																																	0													19.0	13.0	15.0					20																	23029775		2164	4260	6424	SO:0001583	missense	0				CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"""CD molecules"""	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.367G>A	20.37:g.23029775C>T	ENSP00000366307:p.Ala123Thr		Q8IV29|Q9UC32	Missense_Mutation	SNP	pirsf_CD93/CD141,pfam_Tme5_EGF-like,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,prints_Thrombomodulin,pfscan_C-type_lectin	p.A123T	ENST00000377103.2	37	c.367	CCDS13148.1	20	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218547	0.58560	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	T	0.57595	0.39	5.18	4.17	0.49024	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.504193	0.14759	U	0.300118	T	0.52901	0.1763	L	0.49640	1.575	0.33298	D	0.564426	D	0.57257	0.979	P	0.52554	0.702	T	0.62167	-0.6911	10	0.46703	T	0.11	-21.6443	5.8277	0.18562	0.174:0.668:0.0:0.1579	.	123	P07204	TRBM_HUMAN	T	123;105	ENSP00000366307:A123T	ENSP00000366307:A123T	A	-	1	0	THBD	22977775	0.485000	0.25972	0.999000	0.59377	0.382000	0.30200	0.356000	0.20181	2.703000	0.92315	0.549000	0.68633	GCA	THBD	-	pirsf_CD93/CD141,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000178726		0.692	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBD	HGNC	protein_coding	OTTHUMT00000078307.2		0.00	34	0	C			23029775	-1			no_errors	ENST00000377103	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.730	T
TLDC2	140711	genome.wustl.edu	37	20	35517755	35517755	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr20:35517755G>A	ENST00000217320.3	+	6	658	c.614G>A	c.(613-615)tGc>tAc	p.C205Y	TLDC2_ENST00000602922.1_Missense_Mutation_p.C205Y	NM_080628.1	NP_542195.1	A0PJX2	TLDC2_HUMAN	TBC/LysM-associated domain containing 2	205	TLD.																GAGCAGTTCTGCATCCAGGAG	0.627																																																	0													54.0	47.0	49.0					20																	35517755		2203	4300	6503	SO:0001583	missense	0			AL079335	CCDS33465.1	20q11.23	2013-03-14	2013-03-14	2013-03-14	ENSG00000101342	ENSG00000101342			16112	protein-coding gene	gene with protein product	"""hypothetical protein LOC140711"", ""TLD domain containing 2"""		"""chromosome 20 open reading frame 118"""	C20orf118			Standard	NM_080628		Approved	dJ132F21.2	uc002xgg.1	A0PJX2	OTTHUMG00000032400	ENST00000217320.3:c.614G>A	20.37:g.35517755G>A	ENSP00000217320:p.Cys205Tyr		B3KVU8	Missense_Mutation	SNP	pfam_TLDc,smart_TLDc	p.C205Y	ENST00000217320.3	37	c.614	CCDS33465.1	20	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.338924	0.01287	.	.	ENSG00000101342	ENST00000217320	T	0.41065	1.01	5.24	1.86	0.25419	TLDc (2);	0.454245	0.27056	N	0.021148	T	0.20740	0.0499	N	0.20986	0.625	0.32428	N	0.548456	B	0.02656	0.0	B	0.01281	0.0	T	0.33214	-0.9877	10	0.02654	T	1	0.1916	7.3265	0.26557	0.1652:0.0:0.649:0.1858	.	205	A0PJX2	CT118_HUMAN	Y	205	ENSP00000217320:C205Y	ENSP00000217320:C205Y	C	+	2	0	C20orf118	34951169	0.500000	0.26091	0.989000	0.46669	0.120000	0.20174	0.663000	0.25053	0.607000	0.29982	-0.137000	0.14449	TGC	TLDC2	-	pfam_TLDc,smart_TLDc	ENSG00000101342		0.627	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TLDC2	HGNC	protein_coding	OTTHUMT00000079060.2	-	0.00	72	0	G	NM_080628		35517755	+1	tier1	-	no_errors	ENST00000217320	ensembl	human	known	74_37	missense	5.26	90	5	SNP	0.956	A
TMC8	147138	genome.wustl.edu	37	17	76130023	76130023	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr17:76130023G>T	ENST00000318430.5	+	7	1132	c.758G>T	c.(757-759)tGc>tTc	p.C253F	TMC6_ENST00000322914.3_5'Flank|TMC8_ENST00000589691.1_Missense_Mutation_p.C30F	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	253					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			TGGGACTTCTGCATCCGGGTG	0.592																																																	0													67.0	67.0	67.0					17																	76130023		2202	4300	6502	SO:0001583	missense	0			AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.758G>T	17.37:g.76130023G>T	ENSP00000325561:p.Cys253Phe		Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	pfam_TMC	p.C253F	ENST00000318430.5	37	c.758	CCDS32749.1	17	.	.	.	.	.	.	.	.	.	.	G	18.53	3.642954	0.67244	.	.	ENSG00000167895	ENST00000318430	T	0.58797	0.31	3.94	3.94	0.45596	.	0.111903	0.64402	D	0.000016	T	0.72953	0.3525	M	0.81497	2.545	0.42899	D	0.994227	D	0.71674	0.998	D	0.81914	0.995	T	0.72181	-0.4368	10	0.10111	T	0.7	-27.2746	14.9751	0.71264	0.0:0.0:1.0:0.0	.	253	Q8IU68	TMC8_HUMAN	F	253	ENSP00000325561:C253F	ENSP00000325561:C253F	C	+	2	0	TMC8	73641618	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.817000	0.55668	2.033000	0.60031	0.558000	0.71614	TGC	TMC8	-	NULL	ENSG00000167895		0.592	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC8	HGNC	protein_coding	OTTHUMT00000436900.3	-	0.00	40	0	G			76130023	+1	tier1	-	no_errors	ENST00000318430	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T
TMEM59L	25789	genome.wustl.edu	37	19	18729257	18729257	+	Silent	SNP	C	C	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr19:18729257C>T	ENST00000600490.1	+	8	1040	c.855C>T	c.(853-855)agC>agT	p.S285S	TMEM59L_ENST00000262817.3_Silent_p.S285S			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	285						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						TGTGGCTGAGCTGCTCCACCC	0.682																																																	0													27.0	23.0	24.0					19																	18729257		2202	4300	6502	SO:0001819	synonymous_variant	0			AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 4"""	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.855C>T	19.37:g.18729257C>T				Silent	SNP	pfam_Uncharacterised_TMEM59	p.S285	ENST00000600490.1	37	c.855	CCDS12383.1	19																																																																																			TMEM59L	-	NULL	ENSG00000105696		0.682	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	TMEM59L	HGNC	protein_coding	OTTHUMT00000465143.2	-	0.00	59	0	C			18729257	+1	tier1	-	no_errors	ENST00000262817	ensembl	human	known	74_37	silent	5.41	70	4	SNP	1.000	T
TMEM60	85025	genome.wustl.edu	37	7	77423460	77423460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr7:77423460delT	ENST00000257663.3	-	2	607	c.231delA	c.(229-231)aaafs	p.K77fs		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	77						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)	4						GGTACCAGGCTTTTTTTTTAA	0.408																																																	0													142.0	141.0	141.0					7																	77423460		2203	4300	6503	SO:0001589	frameshift_variant	0			AF260336	CCDS5593.1	7q11.23	2005-07-25	2005-07-25	2005-07-25	ENSG00000135211	ENSG00000135211			21754	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 35"""	C7orf35			Standard	NM_032936		Approved	DC32	uc003ugn.3	Q9H2L4	OTTHUMG00000130689	ENST00000257663.3:c.231delA	7.37:g.77423460delT	ENSP00000257663:p.Lys77fs		A4D1C3|Q86UM0	Frame_Shift_Del	DEL	pfam_TM_Fragile-X-F-assoc	p.A78fs	ENST00000257663.3	37	c.231	CCDS5593.1	7																																																																																			TMEM60	-	NULL	ENSG00000135211		0.408	TMEM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM60	HGNC	protein_coding	OTTHUMT00000253185.2		0.00	41	0	T	NM_032936		77423460	-1	tier1		no_errors	ENST00000257663	ensembl	human	known	74_37	frame_shift_del	6.76	69	5	DEL	0.998	-
TNFRSF21	27242	genome.wustl.edu	37	6	47202574	47202574	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr6:47202574G>T	ENST00000296861.2	-	5	1963	c.1570C>A	c.(1570-1572)Ccc>Acc	p.P524T		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	524					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			ttggggctggggatggggctc	0.522																																																	0													22.0	23.0	23.0					6																	47202574		2202	4298	6500	SO:0001583	missense	0			AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1570C>A	6.37:g.47202574G>T	ENSP00000296861:p.Pro524Thr		B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_21	p.P524T	ENST00000296861.2	37	c.1570	CCDS4921.1	6	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038628	0.35989	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	T	0.64260	-0.09	4.77	3.89	0.44902	.	0.502212	0.21547	N	0.072791	T	0.29389	0.0732	N	0.24115	0.695	0.33184	D	0.549967	P	0.34462	0.454	B	0.24974	0.057	T	0.27157	-1.0082	10	0.72032	D	0.01	.	13.9151	0.63893	0.0:0.2902:0.7098:0.0	.	524	O75509	TNR21_HUMAN	T	524;213	ENSP00000296861:P524T	ENSP00000296861:P524T	P	-	1	0	TNFRSF21	47310533	1.000000	0.71417	0.903000	0.35520	0.621000	0.37620	3.927000	0.56499	1.124000	0.41980	0.462000	0.41574	CCC	TNFRSF21	-	NULL	ENSG00000146072		0.522	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF21	HGNC	protein_coding	OTTHUMT00000040814.1		0.00	69	0	G	NM_014452		47202574	-1			no_errors	ENST00000296861	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.957	T
TP53	7157	genome.wustl.edu	37	17	7578191	7578191	+	Missense_Mutation	SNP	A	A	C	rs530941076		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr17:7578191A>C	ENST00000269305.4	-	6	847	c.658T>G	c.(658-660)Tat>Gat	p.Y220D	TP53_ENST00000420246.2_Missense_Mutation_p.Y220D|TP53_ENST00000359597.4_Missense_Mutation_p.Y220D|TP53_ENST00000455263.2_Missense_Mutation_p.Y220D|TP53_ENST00000445888.2_Missense_Mutation_p.Y220D|TP53_ENST00000413465.2_Missense_Mutation_p.Y220D|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220N(12)|p.?(11)|p.Y220H(8)|p.0?(8)|p.Y220D(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCGGCTCATAGGGCACCACC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	51	Substitution - Missense(22)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(1)	breast(10)|biliary_tract(6)|endometrium(5)|oesophagus(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(3)|skin(3)|stomach(2)|central_nervous_system(2)|urinary_tract(2)|lung(2)|liver(2)|ovary(1)											105.0	96.0	99.0					17																	7578191		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.658T>G	17.37:g.7578191A>C	ENSP00000269305:p.Tyr220Asp		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y220D	ENST00000269305.4	37	c.658	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	23.0	4.367056	0.82463	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99836	-7.05;-7.05;-7.05;-7.05;-7.05;-7.05;-7.05;-7.05	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;0.998;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.996;0.992;1.0;0.998;0.995;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	1.0:0.0:0.0:0.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	D	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220D;ENSP00000352610:Y220D;ENSP00000269305:Y220D;ENSP00000398846:Y220D;ENSP00000391127:Y220D;ENSP00000391478:Y220D;ENSP00000425104:Y88D;ENSP00000423862:Y127D	ENSP00000269305:Y220D	Y	-	1	0	TP53	7518916	1.000000	0.71417	0.614000	0.29051	0.991000	0.79684	9.287000	0.95975	2.128000	0.65567	0.460000	0.39030	TAT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	68	0	A	NM_000546		7578191	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	75.32	19	58	SNP	0.998	C
TP53TG5	27296	genome.wustl.edu	37	20	44004158	44004158	+	Missense_Mutation	SNP	T	T	C	rs562359566|rs76663890|rs10546815	byFrequency	TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr20:44004158T>C	ENST00000372726.3	-	4	445	c.289A>G	c.(289-291)Aat>Gat	p.N97D	SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1_ENST00000426004.1_3'UTR|TP53TG5_ENST00000537995.1_Missense_Mutation_p.N81D|TP53TG5_ENST00000494455.1_5'UTR|SYS1-DBNDD2_ENST00000452133.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	97					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						AACTCTTCATTATTTTGTTTT	0.493																																																	0													65.0	37.0	46.0					20																	44004158		2179	4104	6283	SO:0001583	missense	0			AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 10"""	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.289A>G	20.37:g.44004158T>C	ENSP00000361811:p.Asn97Asp			Missense_Mutation	SNP	NULL	p.N97D	ENST00000372726.3	37	c.289	CCDS13352.1	20	.	.	.	.	.	.	.	.	.	.	T	11.61	1.688512	0.29962	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	T;T	0.15603	2.41;2.41	4.26	-0.689	0.11313	.	0.985537	0.08305	N	0.966325	T	0.11707	0.0285	L	0.34521	1.04	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.35968	-0.9767	10	0.45353	T	0.12	0.0023	4.23	0.10599	0.0:0.19:0.3451:0.4649	.	97	Q9Y2B4	T53G5_HUMAN	D	97;81	ENSP00000361811:N97D;ENSP00000438374:N81D	ENSP00000361811:N97D	N	-	1	0	TP53TG5	43437572	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.373000	0.07494	-0.143000	0.11334	-0.313000	0.08912	AAT	TP53TG5	-	NULL	ENSG00000124251		0.493	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53TG5	HGNC	protein_coding	OTTHUMT00000079460.1		0.00	25	0	T	NM_014477		44004158	-1			no_errors	ENST00000372726	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.000	C
TPCN1	53373	genome.wustl.edu	37	12	113717958	113717958	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr12:113717958A>G	ENST00000335509.6	+	15	1614	c.1300A>G	c.(1300-1302)Att>Gtt	p.I434V	TPCN1_ENST00000392569.4_Missense_Mutation_p.I366V|TPCN1_ENST00000541517.1_Missense_Mutation_p.I506V|TPCN1_ENST00000550785.1_Missense_Mutation_p.I506V	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	434					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TCAAATAGGTATTAATATCCT	0.388																																																	0													94.0	90.0	92.0					12																	113717958		2203	4300	6503	SO:0001583	missense	0			AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.1300A>G	12.37:g.113717958A>G	ENSP00000335300:p.Ile434Val		A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.I506V	ENST00000335509.6	37	c.1516	CCDS31908.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.79|11.79	1.744631|1.744631	0.30865|0.30865	.|.	.|.	ENSG00000186815|ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569|ENST00000546781	D;D;D;D|.	0.96967|.	-4.07;-4.19;-4.19;-4.13|.	5.02|5.02	3.88|3.88	0.44766|0.44766	.|.	0.109377|.	0.64402|.	N|.	0.000009|.	T|T	0.41926|0.41926	0.1180|0.1180	N|N	0.25647|0.25647	0.755|0.755	0.42659|0.42659	D|D	0.993479|0.993479	B;B;B|.	0.17465|.	0.001;0.022;0.016|.	B;B;B|.	0.14023|.	0.001;0.007;0.01|.	T|T	0.18903|0.18903	-1.0322|-1.0322	10|5	0.06625|.	T|.	0.88|.	-13.2733|-13.2733	7.8888|7.8888	0.29665|0.29665	0.8388:0.0:0.1612:0.0|0.8388:0.0:0.1612:0.0	.|.	434;506;434|.	A5PKY2;Q9ULQ1-3;Q9ULQ1|.	.;.;TPC1_HUMAN|.	V|C	434;506;506;366|120	ENSP00000335300:I434V;ENSP00000448083:I506V;ENSP00000438125:I506V;ENSP00000376350:I366V|.	ENSP00000335300:I434V|.	I|Y	+|+	1|2	0|0	TPCN1|TPCN1	112202341|112202341	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.902000|0.902000	0.53008|0.53008	3.761000|3.761000	0.55242|0.55242	0.938000|0.938000	0.37419|0.37419	0.533000|0.533000	0.62120|0.62120	ATT|TAT	TPCN1	-	NULL	ENSG00000186815		0.388	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPCN1	HGNC	protein_coding	OTTHUMT00000405156.3	-	0.00	46	0	A	NM_017901		113717958	+1	tier1	-	no_errors	ENST00000541517	ensembl	human	known	74_37	missense	40.00	27	18	SNP	1.000	G
TRIM37	4591	genome.wustl.edu	37	17	57109426	57109426	+	Silent	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr17:57109426G>A	ENST00000262294.7	-	18	2038	c.1779C>T	c.(1777-1779)tcC>tcT	p.S593S	TRIM37_ENST00000393065.2_Silent_p.S559S|TRIM37_ENST00000376149.3_Silent_p.S471S|TRIM37_ENST00000393066.3_Silent_p.S593S	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	593					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTCTACTACTGGAACCCACAT	0.343									Mulibrey Nanism																																								0													104.0	111.0	109.0					17																	57109426		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.1779C>T	17.37:g.57109426G>A			Q7Z3E6|Q8IYF7|Q8WYF7	Silent	SNP	pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING	p.S593	ENST00000262294.7	37	c.1779	CCDS32694.1	17																																																																																			TRIM37	-	NULL	ENSG00000108395		0.343	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM37	HGNC	protein_coding	OTTHUMT00000445930.1	-	0.00	46	0	G	NM_015294		57109426	-1	tier1	-	no_errors	ENST00000262294	ensembl	human	known	74_37	silent	6.49	72	5	SNP	0.999	A
TRIM71	131405	genome.wustl.edu	37	3	32932232	32932232	+	Silent	SNP	C	C	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr3:32932232C>T	ENST00000383763.5	+	4	1599	c.1536C>T	c.(1534-1536)caC>caT	p.H512H		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	512					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTTATGACCACGATGGTGAGC	0.617																																																	0													48.0	51.0	50.0					3																	32932232		2090	4212	6302	SO:0001819	synonymous_variant	0				CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.1536C>T	3.37:g.32932232C>T				Silent	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.H512	ENST00000383763.5	37	c.1536	CCDS43060.1	3																																																																																			TRIM71	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000206557		0.617	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM71	HGNC	protein_coding	OTTHUMT00000341565.3	-	0.00	13	0	C	NM_001039111		32932232	+1	tier1	-	no_errors	ENST00000383763	ensembl	human	known	74_37	silent	27.78	13	5	SNP	0.990	T
TRPC7	57113	genome.wustl.edu	37	5	135692820	135692820	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr5:135692820C>T	ENST00000513104.1	-	2	538	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	TRPC7_ENST00000355180.3_Missense_Mutation_p.V86M|TRPC7_ENST00000426057.2_Missense_Mutation_p.V86M	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	86					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.V86M(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCGTTGCCCACGGCCAGCTGC	0.597																																																	2	Substitution - Missense(2)	prostate(2)											76.0	85.0	82.0					5																	135692820		2200	4300	6500	SO:0001583	missense	0			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.256G>A	5.37:g.135692820C>T	ENSP00000426070:p.Val86Met		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.V86M	ENST00000513104.1	37	c.256	CCDS47267.2	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.381713|4.381713	0.82792|0.82792	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753|ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	.|T;T;T	.|0.67171	.|-0.25;-0.25;-0.25	5.0|5.0	5.0|5.0	0.66597|0.66597	.|Ankyrin repeat-containing domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83147|0.83147	0.5191|0.5191	M|M	0.81497|0.81497	2.545|2.545	0.43191|0.43191	D|D	0.995021|0.995021	.|D;D;D;D	.|0.89917	.|0.999;0.999;1.0;1.0	.|D;P;D;D	.|0.91635	.|0.993;0.784;0.999;0.998	D|D	0.85504|0.85504	0.1193|0.1193	5|10	.|0.87932	.|D	.|0	-22.3339|-22.3339	18.5076|18.5076	0.90902|0.90902	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|86;86;86;86	.|Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.|.;.;.;TRPC7_HUMAN	H|M	85|86	.|ENSP00000347312:V86M;ENSP00000441628:V86M;ENSP00000426070:V86M	.|ENSP00000265193:V86M	R|V	-|-	2|1	0|0	TRPC7|TRPC7	135720719|135720719	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.992000|0.992000	0.81027|0.81027	7.651000|7.651000	0.83577|0.83577	2.608000|2.608000	0.88229|0.88229	0.561000|0.561000	0.74099|0.74099	CGT|GTG	TRPC7	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,tigrfam_TRP_channel	ENSG00000069018		0.597	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	HGNC	protein_coding	OTTHUMT00000366975.1	-	0.00	23	0	C	NM_020389		135692820	-1	tier1	-	no_errors	ENST00000513104	ensembl	human	known	74_37	missense	66.67	7	14	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179597727	179597727	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr2:179597727C>G	ENST00000591111.1	-	53	15449	c.15225G>C	c.(15223-15225)aaG>aaC	p.K5075N	TTN_ENST00000342992.6_Missense_Mutation_p.K4148N|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K5392N			Q8WZ42	TITIN_HUMAN	titin	12446	Ig-like 31.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTGCCATCCTTAAACCAGG	0.478																																																	0													72.0	66.0	68.0					2																	179597727		1912	4135	6047	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.15225G>C	2.37:g.179597727C>G	ENSP00000465570:p.Lys5075Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K4148N	ENST00000591111.1	37	c.12444		2	.	.	.	.	.	.	.	.	.	.	C	6.288	0.421202	0.11928	.	.	ENSG00000155657	ENST00000342992	T	0.54675	0.56	6.17	3.43	0.39272	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77198	0.4095	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80518	-0.1347	9	0.87932	D	0	.	9.626	0.39750	0.0:0.7367:0.0:0.2632	.	5075	Q8WZ42	TITIN_HUMAN	N	4148	ENSP00000343764:K4148N	ENSP00000343764:K4148N	K	-	3	2	TTN	179305972	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	1.358000	0.34102	0.954000	0.37851	-0.136000	0.14681	AAG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000155657		0.478	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	52	0	C	NM_133378		179597727	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	19.05	34	8	SNP	1.000	G
TXLNGY	246126	genome.wustl.edu	37	Y	21753779	21753779	+	RNA	DEL	A	A	-			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chrY:21753779delA	ENST00000253320.4	+	0	0																				haematopoietic_and_lymphoid_tissue(1)	1						CCATCTTGGCAAGAAGCAAGC	0.368																																																	0																																												0																															Y.37:g.21753779delA				RNA	DEL	-	NULL	ENST00000253320.4	37	NULL		Y																																																																																			TXLNG2P	-	-	ENSG00000131002		0.368	TXLNG2P-012	KNOWN	basic	processed_transcript	TXLNG2P	HGNC	pseudogene	OTTHUMT00000088781.1		0.00	49	0	A			21753779	+1	tier1		no_errors	ENST00000488280	ensembl	human	known	74_37	rna	13.33	13	2	DEL	0.999	-
UBAC2	337867	genome.wustl.edu	37	13	99890703	99890703	+	Frame_Shift_Del	DEL	C	C	-			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr13:99890703delC	ENST00000403766.3	+	2	189	c.54delC	c.(52-54)agcfs	p.S18fs	UBAC2_ENST00000376440.2_Frame_Shift_Del_p.A60fs	NM_001144072.1	NP_001137544.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	18					protein localization to endoplasmic reticulum (GO:0070972)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGTCGAAGAGCCTTCTGCTGG	0.507																																																	0													217.0	222.0	220.0					13																	99890703		2203	4300	6503	SO:0001589	frameshift_variant	0			AK055110	CCDS9490.1, CCDS45064.1	13q32.3	2012-02-01	2007-04-20	2007-04-20	ENSG00000134882	ENSG00000134882			20486	protein-coding gene	gene with protein product			"""phosphoglycerate dehydrogenase like 1"""	PHGDHL1			Standard	NM_177967		Approved	FLJ30548, RP11-178C10.1	uc001voa.4	Q8NBM4	OTTHUMG00000017267	ENST00000403766.3:c.54delC	13.37:g.99890703delC	ENSP00000383911:p.Ser18fs		B3KNV7|Q0VAB5|Q5W0W6|Q5W0W9|Q6GQR2|Q6P4B0|Q8N2E8|Q96NW2	Frame_Shift_Del	DEL	pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.F61fs	ENST00000403766.3	37	c.179	CCDS45064.1	13																																																																																			UBAC2	-	NULL	ENSG00000134882		0.507	UBAC2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	UBAC2	HGNC	protein_coding	OTTHUMT00000045588.1		0.00	53	0	C	NM_177967		99890703	+1	tier1		no_errors	ENST00000376440	ensembl	human	known	74_37	frame_shift_del	24.53	40	13	DEL	1.000	-
UNC93A	54346	genome.wustl.edu	37	6	167728900	167728901	+	Missense_Mutation	DNP	TC	TC	CG			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr6:167728900_167728901TC>CG	ENST00000230256.3	+	8	1509_1510	c.1334_1335TC>CG	c.(1333-1335)gTC>gCG	p.V445A	UNC93A_ENST00000366829.2_Missense_Mutation_p.V403A	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	445			V -> A. {ECO:0000269|PubMed:12381271}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V445A(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCAGGACAGGTCAACCAGGCAG	0.525																																																	1	Substitution - Missense(1)	skin(1)																																								SO:0001583	missense	0			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	Exception_encountered	6.37:g.167728900_167728901delinsCG	ENSP00000230256:p.Val445Ala		B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation|Silent	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.V445A|p.V445	ENST00000230256.3	37	c.1334|c.1335	CCDS5300.1	6																																																																																			UNC93A	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000112494		0.525	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC93A	HGNC	protein_coding	OTTHUMT00000043125.2		0.00	91|89	0	T|C	NM_018974		167728900|167728901	+1			no_errors	ENST00000230256	ensembl	human	known	74_37	missense|silent	14.29|13.33	78	13|12	SNP	0.000	C|G
USH2A	7399	genome.wustl.edu	37	1	215901650	215901650	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr1:215901650C>G	ENST00000307340.3	-	61	12174	c.11788G>C	c.(11788-11790)Gac>Cac	p.D3930H	USH2A_ENST00000366943.2_Missense_Mutation_p.D3930H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3930	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCAGGGTGTCTCCTTCATCC	0.488										HNSCC(13;0.011)																																							0													96.0	96.0	96.0					1																	215901650		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11788G>C	1.37:g.215901650C>G	ENSP00000305941:p.Asp3930His		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.D3930H	ENST00000307340.3	37	c.11788	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	6.017	0.371453	0.11409	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54071	0.59;0.59	5.24	3.38	0.38709	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.314638	0.22109	N	0.064509	T	0.49779	0.1577	M	0.72894	2.215	0.09310	N	1	P	0.39216	0.664	B	0.37550	0.253	T	0.47235	-0.9133	10	0.62326	D	0.03	.	9.1686	0.37067	0.0:0.7774:0.0:0.2226	.	3930	O75445	USH2A_HUMAN	H	3930	ENSP00000305941:D3930H;ENSP00000355910:D3930H	ENSP00000305941:D3930H	D	-	1	0	USH2A	213968273	0.387000	0.25188	0.000000	0.03702	0.002000	0.02628	2.555000	0.45854	0.598000	0.29829	-0.237000	0.12165	GAC	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.488	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0.00	58	0	C	NM_007123		215901650	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	5.77	98	6	SNP	0.001	G
USP14	9097	genome.wustl.edu	37	18	203180	203180	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr18:203180A>G	ENST00000261601.7	+	12	1116	c.1025A>G	c.(1024-1026)aAa>aGa	p.K342R	USP14_ENST00000400266.3_Missense_Mutation_p.K331R|USP14_ENST00000383589.2_Missense_Mutation_p.K296R|USP14_ENST00000582707.1_Missense_Mutation_p.K307R	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	342	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				GTGAATGCCAAAGTTCTTAAG	0.343																																																	0													61.0	64.0	63.0					18																	203180		2203	4300	6503	SO:0001583	missense	0			U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"""Ubiquitin-specific peptidases"""	12612	protein-coding gene	gene with protein product		607274	"""ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"""			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.1025A>G	18.37:g.203180A>G	ENSP00000261601:p.Lys342Arg		J3QRZ5|Q53XY5	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,smart_Ubiquitin_dom,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup	p.K342R	ENST00000261601.7	37	c.1025	CCDS32780.1	18	.	.	.	.	.	.	.	.	.	.	a	28.9	4.963670	0.92791	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	T;T	0.56941	0.43;0.43	5.8	5.8	0.92144	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.040549	0.85682	D	0.000000	T	0.77412	0.4126	H	0.94620	3.56	0.80722	D	1	D;P;P	0.58620	0.983;0.795;0.879	P;P;P	0.58013	0.831;0.687;0.687	D	0.84070	0.0379	10	0.62326	D	0.03	-24.7451	16.1502	0.81611	1.0:0.0:0.0:0.0	.	331;307;342	B7Z4N8;A6NJA2;P54578	.;.;UBP14_HUMAN	R	342;307;331	ENSP00000261601:K342R;ENSP00000383125:K331R	ENSP00000261601:K342R	K	+	2	0	USP14	193180	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.726000	0.91474	2.203000	0.70933	0.460000	0.39030	AAA	USP14	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000101557		0.343	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP14	HGNC	protein_coding	OTTHUMT00000440305.3	-	0.00	59	0	A	NM_005151		203180	+1	tier1	-	no_errors	ENST00000261601	ensembl	human	known	74_37	missense	50.00	25	25	SNP	1.000	G
VCL	7414	genome.wustl.edu	37	10	75873970	75873970	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr10:75873970G>A	ENST00000211998.4	+	20	3072	c.2978G>A	c.(2977-2979)cGc>cAc	p.R993H	VCL_ENST00000417648.2_Missense_Mutation_p.R186H|VCL_ENST00000372755.3_Missense_Mutation_p.R925H	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	993	C-terminal tail.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GCAGCCAAGCGCATGGCTCTG	0.562																																																	0													85.0	70.0	75.0					10																	75873970		2203	4300	6503	SO:0001583	missense	0			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.2978G>A	10.37:g.75873970G>A	ENSP00000211998:p.Arg993His		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin	p.R993H	ENST00000211998.4	37	c.2978	CCDS7341.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.460829	0.96240	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000417648;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.55210	0.1906	L	0.28504	0.86	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.75484	0.982;0.986;0.936;0.976	T	0.45934	-0.9227	10	0.33940	T	0.23	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	186;852;925;993	B4DTM7;F5H7T3;P18206-2;P18206	.;.;.;VINC_HUMAN	H	925;993;186;900;852;665	ENSP00000361841:R925H;ENSP00000211998:R993H;ENSP00000411887:R186H;ENSP00000415489:R665H	ENSP00000211998:R993H	R	+	2	0	VCL	75543976	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.835000	0.97688	0.650000	0.86243	CGC	VCL	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000035403		0.562	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	VCL	HGNC	protein_coding			0.00	21	0	G	NM_003373, NM_014000		75873970	+1			no_errors	ENST00000211998	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	A
VTI1A	143187	genome.wustl.edu	37	10	114220329	114220329	+	Silent	SNP	A	A	G			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr10:114220329A>G	ENST00000393077.2	+	2	257	c.141A>G	c.(139-141)gaA>gaG	p.E47E	VTI1A_ENST00000432306.1_Silent_p.E47E	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	47					intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNAP receptor activity (GO:0005484)		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		AGCTTGAAGAAGCGAAAGAAC	0.333			T	TCF7L2	colorectal																																			Dom	yes		10	10q25.2	143187	vesicle transport through interaction with t-SNAREs homolog 1A		E	0													94.0	92.0	92.0					10																	114220329		2203	4300	6503	SO:0001819	synonymous_variant	0			BC017052	CCDS7575.2	10q25.2	2012-12-10	2012-12-10		ENSG00000151532	ENSG00000151532			17792	protein-coding gene	gene with protein product		614316	"""vesicle transport through interaction with t-SNAREs homolog 1A (yeast)"""			9446565	Standard	NM_145206		Approved	MVti1, Vti1a, Vti1-rp2	uc001kzz.3	Q96AJ9	OTTHUMG00000019063	ENST00000393077.2:c.141A>G	10.37:g.114220329A>G			A2A307|B4E137|Q5W0D7	Silent	SNP	pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE,smart_T_SNARE_dom	p.E47	ENST00000393077.2	37	c.141	CCDS7575.2	10																																																																																			VTI1A	-	pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE	ENSG00000151532		0.333	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTI1A	HGNC	protein_coding	OTTHUMT00000050397.2	-	0.00	66	0	A			114220329	+1	tier1	-	no_errors	ENST00000393077	ensembl	human	known	74_37	silent	16.85	74	15	SNP	1.000	G
VWF	7450	genome.wustl.edu	37	12	6103140	6103140	+	Silent	SNP	G	G	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr12:6103140G>T	ENST00000261405.5	-	37	6740	c.6486C>A	c.(6484-6486)atC>atA	p.I2162I		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2162					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCTGCTGGCAGATGGCATAGA	0.582																																																	0													85.0	70.0	75.0					12																	6103140		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6486C>A	12.37:g.6103140G>T			Q8TCE8|Q99806	Silent	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.I2162	ENST00000261405.5	37	c.6486	CCDS8539.1	12																																																																																			VWF	-	pirsf_VWF,pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000110799		0.582	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1		0.00	28	0	G	NM_000552		6103140	-1			no_errors	ENST00000261405	ensembl	human	known	74_37	silent	5.88	32	2	SNP	0.915	T
XAB2	56949	genome.wustl.edu	37	19	7684915	7684915	+	Silent	SNP	C	C	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr19:7684915C>A	ENST00000358368.4	-	17	2350	c.2313G>T	c.(2311-2313)ctG>ctT	p.L771L	XAB2_ENST00000534844.1_Silent_p.L768L	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	771					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GCTGTTCCAGCAGCTTCATGT	0.677								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													27.0	26.0	26.0					19																	7684915		2199	4293	6492	SO:0001819	synonymous_variant	0			AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.2313G>T	19.37:g.7684915C>A			Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Silent	SNP	smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L771	ENST00000358368.4	37	c.2313	CCDS32892.1	19																																																																																			XAB2	-	NULL	ENSG00000076924		0.677	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XAB2	HGNC	protein_coding	OTTHUMT00000461021.1	-	0.00	45	0	C	NM_020196		7684915	-1	tier1	-	no_errors	ENST00000358368	ensembl	human	known	74_37	silent	20.00	36	9	SNP	1.000	A
ZFYVE1	53349	genome.wustl.edu	37	14	73442338	73442338	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr14:73442338A>G	ENST00000556143.1	-	9	2447	c.1727T>C	c.(1726-1728)cTt>cCt	p.L576P	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.L562P|ZFYVE1_ENST00000554145.1_5'UTR|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.L161P|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.L576P|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.L161P	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	576					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GGTGGGTCCAAGGCTAAGCTC	0.567																																																	0													127.0	104.0	112.0					14																	73442338		2203	4300	6503	SO:0001583	missense	0			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1727T>C	14.37:g.73442338A>G	ENSP00000450742:p.Leu576Pro		J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_P-loop_NTPase,superfamily_Growth_fac_rcpt_N_dom,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.L576P	ENST00000556143.1	37	c.1727	CCDS9811.1	14	.	.	.	.	.	.	.	.	.	.	A	17.47	3.396778	0.62177	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143;ENST00000394207;ENST00000555072	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	6.17	6.17	0.99709	Zinc finger, FYVE/PHD-type (1);	0.182212	0.49305	D	0.000147	T	0.72574	0.3477	N	0.24115	0.695	0.80722	D	1	D;P	0.57571	0.98;0.475	P;B	0.47705	0.555;0.087	T	0.73895	-0.3838	10	0.40728	T	0.16	-13.6339	16.8222	0.85835	1.0:0.0:0.0:0.0	.	576;576	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	P	576;562;576;161;161	ENSP00000452442:L576P;ENSP00000326921:L562P;ENSP00000450742:L576P;ENSP00000377757:L161P;ENSP00000452232:L161P	ENSP00000326921:L576P	L	-	2	0	ZFYVE1	72512091	1.000000	0.71417	0.966000	0.40874	0.974000	0.67602	7.576000	0.82467	2.371000	0.80710	0.533000	0.62120	CTT	ZFYVE1	-	superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt_N_dom	ENSG00000165861		0.567	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE1	HGNC	protein_coding	OTTHUMT00000413172.1	-	0.00	50	0	A	NM_021260		73442338	-1	tier1	-	no_errors	ENST00000553891	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.998	G
ZNF257	113835	genome.wustl.edu	37	19	22271020	22271020	+	Silent	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr19:22271020G>A	ENST00000594947.1	+	4	612	c.468G>A	c.(466-468)aaG>aaA	p.K156K	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	156					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTTCTATAAGTTTTCAAATT	0.318																																																	0													41.0	45.0	44.0					19																	22271020		2182	4284	6466	SO:0001819	synonymous_variant	0			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.468G>A	19.37:g.22271020G>A			B3KPS4|E9PG34|Q8NE34	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.K156	ENST00000594947.1	37	c.468	CCDS46030.1	19																																																																																			ZNF257	-	NULL	ENSG00000197134		0.318	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	HGNC	protein_coding	OTTHUMT00000464382.1	-	0.00	62	0	G			22271020	+1	tier1	-	no_errors	ENST00000594947	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.000	A
ZNF423	23090	genome.wustl.edu	37	16	49557603	49557603	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr16:49557603C>T	ENST00000561648.1	-	7	3810	c.3757G>A	c.(3757-3759)Ggg>Agg	p.G1253R	ZNF423_ENST00000562520.1_Missense_Mutation_p.G1193R|ZNF423_ENST00000563137.2_Missense_Mutation_p.G1193R|ZNF423_ENST00000562871.1_Missense_Mutation_p.G1193R|ZNF423_ENST00000567169.1_Missense_Mutation_p.G1136R|ZNF423_ENST00000535559.1_Missense_Mutation_p.G1136R|ZNF423_ENST00000262383.2_Missense_Mutation_p.G1253R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1253					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G1253W(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TCCTCCTGCCCGTGCACGGCA	0.612																																																	2	Substitution - Missense(2)	lung(2)											173.0	119.0	137.0					16																	49557603		2199	4300	6499	SO:0001583	missense	0			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3757G>A	16.37:g.49557603C>T	ENSP00000455426:p.Gly1253Arg		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G1253R	ENST00000561648.1	37	c.3757	CCDS32445.1	16	.	.	.	.	.	.	.	.	.	.	C	32	5.129607	0.94473	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.35605	1.3;1.3	5.41	5.41	0.78517	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.47783	0.1464	N	0.24115	0.695	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.37888	-0.9686	9	.	.	.	-19.3624	19.1919	0.93671	0.0:1.0:0.0:0.0	.	1253	Q2M1K9	ZN423_HUMAN	R	1253;1136	ENSP00000262383:G1253R;ENSP00000442321:G1136R	.	G	-	1	0	ZNF423	48115104	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.480000	0.81109	2.532000	0.85374	0.561000	0.74099	GGG	ZNF423	-	pfscan_Znf_C2H2	ENSG00000102935		0.612	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	HGNC	protein_coding	OTTHUMT00000423258.1	-	0.00	39	0	C	NM_015069		49557603	-1	tier1	-	no_errors	ENST00000262383	ensembl	human	known	74_37	missense	51.85	13	14	SNP	1.000	T
ZNF440	126070	genome.wustl.edu	37	19	11942659	11942659	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr19:11942659C>G	ENST00000304060.5	+	4	832	c.668C>G	c.(667-669)aCt>aGt	p.T223S		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	223					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGAATTCACACTGGAGAGAAA	0.373																																																	0													72.0	75.0	74.0					19																	11942659		2203	4300	6503	SO:0001583	missense	0			AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.668C>G	19.37:g.11942659C>G	ENSP00000305373:p.Thr223Ser		Q8N1R9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T223S	ENST00000304060.5	37	c.668	CCDS42503.1	19	.	.	.	.	.	.	.	.	.	.	c	9.711	1.157194	0.21454	.	.	ENSG00000171295	ENST00000304060;ENST00000427505	T;T	0.24151	1.87;1.87	1.37	0.135	0.14775	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17365	0.0417	L	0.28274	0.84	0.23991	N	0.996242	P	0.38335	0.627	B	0.37833	0.259	T	0.15838	-1.0423	9	0.59425	D	0.04	.	8.361	0.32359	0.0:0.5371:0.4629:0.0	.	223	Q8IYI8	ZN440_HUMAN	S	223;226	ENSP00000305373:T223S;ENSP00000393489:T226S	ENSP00000305373:T223S	T	+	2	0	ZNF440	11803659	0.000000	0.05858	0.036000	0.18154	0.080000	0.17528	-0.253000	0.08794	0.109000	0.17891	0.205000	0.17691	ACT	ZNF440	-	pfscan_Znf_C2H2	ENSG00000171295		0.373	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF440	HGNC	protein_coding	OTTHUMT00000344508.1	-	0.00	114	0	C	NM_152357		11942659	+1	tier1	-	no_errors	ENST00000304060	ensembl	human	known	74_37	missense	21.53	113	31	SNP	0.989	G
ZNF496	84838	genome.wustl.edu	37	1	247463850	247463850	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr1:247463850G>A	ENST00000294753.4	-	9	2199	c.1735C>T	c.(1735-1737)Cgt>Tgt	p.R579C	ZNF496_ENST00000366498.2_Missense_Mutation_p.R615C|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	579					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TGCTTGGAACGGCGCTTCATG	0.642																																																	0													46.0	45.0	45.0					1																	247463850		2203	4300	6503	SO:0001583	missense	0			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1735C>T	1.37:g.247463850G>A	ENSP00000294753:p.Arg579Cys		Q8TBS2	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R615C	ENST00000294753.4	37	c.1843	CCDS1631.1	1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813272	0.70912	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.08458	3.1;3.09	4.32	4.32	0.51571	Zinc finger, C2H2 (1);	0.000000	0.50627	D	0.000102	T	0.36358	0.0964	H	0.97340	3.985	0.53688	D	0.999972	B;D	0.76494	0.086;0.999	B;P	0.54965	0.023;0.765	T	0.59899	-0.7367	10	0.72032	D	0.01	-40.1058	14.6891	0.69070	0.0:0.0:1.0:0.0	.	615;579	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	C	579;615	ENSP00000294753:R579C;ENSP00000355454:R615C	ENSP00000294753:R579C	R	-	1	0	ZNF496	245530473	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.039000	0.76544	2.388000	0.81334	0.591000	0.81541	CGT	ZNF496	-	pfscan_Znf_C2H2	ENSG00000162714		0.642	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF496	HGNC	protein_coding	OTTHUMT00000098655.2	-	0.00	37	0	G	NM_032752		247463850	-1	tier1	-	no_errors	ENST00000366498	ensembl	human	known	74_37	missense	16.67	35	7	SNP	1.000	A
ZNF646	9726	genome.wustl.edu	37	16	31088787	31088787	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr16:31088787G>A	ENST00000394979.2	+	1	1565	c.1142G>A	c.(1141-1143)cGt>cAt	p.R381H	ZNF646_ENST00000300850.5_Missense_Mutation_p.R381H			O15015	ZN646_HUMAN	zinc finger protein 646	381					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GACTGTGGCCGTACTTACCGC	0.592																																																	0													36.0	32.0	33.0					16																	31088787		2197	4300	6497	SO:0001583	missense	0			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.1142G>A	16.37:g.31088787G>A	ENSP00000378429:p.Arg381His		Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R381H	ENST00000394979.2	37	c.1142		16	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745524	0.69418	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.55588	0.51;0.51	5.44	5.44	0.79542	.	.	.	.	.	T	0.65491	0.2696	L	0.49571	1.57	0.39614	D	0.969921	D	0.89917	1.0	D	0.91635	0.999	T	0.68652	-0.5352	9	0.72032	D	0.01	-17.1902	11.5132	0.50504	0.0835:0.0:0.9165:0.0	.	381	O15015-2	.	H	381	ENSP00000300850:R381H;ENSP00000378429:R381H	ENSP00000300850:R381H	R	+	2	0	ZNF646	30996288	0.260000	0.24053	1.000000	0.80357	0.998000	0.95712	2.364000	0.44187	2.557000	0.86248	0.655000	0.94253	CGT	ZNF646	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167395		0.592	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	-	0.00	50	0	G	NM_014699		31088787	+1	tier1	-	no_errors	ENST00000300850	ensembl	human	known	74_37	missense	64.62	23	42	SNP	1.000	A
ZNF783	100289678	genome.wustl.edu	37	7	148990944	148990944	+	IGR	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr7:148990944G>A	ENST00000489518.1	+	0	763				RP4-800G7.2_ENST00000416232.1_RNA			Q6ZMS7	ZN783_HUMAN	zinc finger family member 783						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GTGGGAAGGGGCACTTCCATG	0.502																																																	0																																										SO:0001628	intergenic_variant	0			AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969		7.37:g.148990944G>A			C9J9J2	Silent	SNP	NULL	p.G215	ENST00000489518.1	37	c.645		7																																																																																			ZNF783	-	NULL	ENSG00000204946		0.502	ZNF783-005	KNOWN	basic	processed_transcript	ZNF783	HGNC	protein_coding	OTTHUMT00000352719.2	-	0.00	34	0	G	NM_001195220		148990944	+1	tier1	-	no_errors	ENST00000481519	ensembl	human	known	74_37	silent	14.81	23	4	SNP	0.000	A
ZNF767P	79970	genome.wustl.edu	37	7	149250069	149250069	+	RNA	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr7:149250069G>A	ENST00000463567.1	-	0	870					NR_027788.1		Q75MW2	ZN767_HUMAN												central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)	5	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00434)			aggctttccagggcaaccaga	0.483																																																	0																																												0																															7.37:g.149250069G>A			D3DWG6|Q86WY4|Q9H9J3	RNA	SNP	-	NULL	ENST00000463567.1	37	NULL		7																																																																																			ZNF767	-	-	ENSG00000133624		0.483	ZNF767-001	KNOWN	basic	processed_transcript	ZNF767	HGNC	pseudogene	OTTHUMT00000352753.2	-	0.00	41	0	G			149250069	-1	tier1	-	no_errors	ENST00000463567	ensembl	human	known	74_37	rna	34.78	30	16	SNP	0.092	A
ZNF93	81931	genome.wustl.edu	37	19	20045338	20045338	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr19:20045338T>C	ENST00000343769.5	+	4	1602	c.1574T>C	c.(1573-1575)aTt>aCt	p.I525T	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	525					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TCAACCCTTATTAAACATAAG	0.363																																																	0													37.0	41.0	40.0					19																	20045338		2192	4294	6486	SO:0001583	missense	0			M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1574T>C	19.37:g.20045338T>C	ENSP00000342002:p.Ile525Thr		A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I525T	ENST00000343769.5	37	c.1574	CCDS32973.1	19	.	.	.	.	.	.	.	.	.	.	N	0.001	-4.689623	0.00000	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.35973	1.28	0.819	-1.64	0.08318	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09379	0.0231	N	0.02334	-0.595	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.14587	-1.0467	9	0.02654	T	1	.	0.1603	0.00102	0.2476:0.2608:0.2483:0.2433	.	525	P35789	ZNF93_HUMAN	T	525;497	ENSP00000342002:I525T	ENSP00000342002:I525T	I	+	2	0	ZNF93	19906338	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-6.692000	0.00057	-3.148000	0.00231	-3.189000	0.00055	ATT	ZNF93	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000184635		0.363	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF93	HGNC	protein_coding	OTTHUMT00000460808.2	-	0.00	53	0	T	NM_031218		20045338	+1	tier1	-	no_errors	ENST00000343769	ensembl	human	known	74_37	missense	15.62	53	10	SNP	0.000	C
ZNF792	126375	genome.wustl.edu	37	19	35449655	35449655	+	Silent	SNP	G	G	A			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr19:35449655G>A	ENST00000404801.1	-	4	1490	c.1104C>T	c.(1102-1104)tgC>tgT	p.C368C	ZNF792_ENST00000605484.1_Silent_p.C301C	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	368					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CACAGTCGCTGCACTCATATG	0.498																																					GBM(1;7 183 21053 22581 22847)												0													49.0	43.0	45.0					19																	35449655		2203	4300	6503	SO:0001819	synonymous_variant	0			AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1104C>T	19.37:g.35449655G>A			B4E333|Q495L1|Q495L3|Q8N932	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.C368	ENST00000404801.1	37	c.1104	CCDS12440.2	19																																																																																			ZNF792	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180884		0.498	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF792	HGNC	protein_coding	OTTHUMT00000317673.1	-	0.00	56	0	G	NM_175872		35449655	-1	tier1	-	no_errors	ENST00000404801	ensembl	human	known	74_37	silent	5.97	62	4	SNP	0.984	A
ZWINT	11130	genome.wustl.edu	37	10	58118341	58118341	+	Silent	SNP	C	C	T			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr10:58118341C>T	ENST00000373944.3	-	7	806	c.768G>A	c.(766-768)ggG>ggA	p.G256G	ZWINT_ENST00000361148.6_Silent_p.G209G|ZWINT_ENST00000318387.2_Silent_p.G136G|ZWINT_ENST00000395405.1_Silent_p.G256G|ZWINT_ENST00000460654.1_5'UTR			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	256					establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						CAGGGTCTCTCCCCATGGTGT	0.562																																																	0													114.0	107.0	109.0					10																	58118341		2203	4300	6503	SO:0001819	synonymous_variant	0			AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"""ZW10 interactor"""				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.768G>A	10.37:g.58118341C>T			A6NNV6|Q0D2I3|Q9BWD0	Silent	SNP	NULL	p.G256	ENST00000373944.3	37	c.768	CCDS7249.1	10	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951278	0.53186	.	.	ENSG00000122952	ENST00000373940	.	.	.	4.16	-1.11	0.09840	.	.	.	.	.	T	0.35393	0.0930	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35649	-0.9780	5	0.42905	T	0.14	-19.7002	7.5193	0.27618	0.0:0.4379:0.0:0.5621	.	.	.	.	K	70	.	ENSP00000363051:E70K	E	-	1	0	ZWINT	57788347	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.245000	0.08890	-0.201000	0.10284	0.563000	0.77884	GAG	ZWINT	-	NULL	ENSG00000122952		0.562	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZWINT	HGNC	protein_coding	OTTHUMT00000048132.1	-	0.00	44	0	C			58118341	-1	tier1	-	no_errors	ENST00000373944	ensembl	human	known	74_37	silent	44.07	33	26	SNP	0.000	T
