#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
ABHD16A	7920	genome.wustl.edu	37	6	31668752	31668752	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr6:31668752G>T	ENST00000395952.3	-	4	472	c.310C>A	c.(310-312)Ctg>Atg	p.L104M	MIR4646_ENST00000580775.1_RNA|ABHD16A_ENST00000440843.2_Missense_Mutation_p.L71M|ABHD16A_ENST00000538874.1_Nonsense_Mutation_p.C5*|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000375842.4_De_novo_Start_InFrame	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	104						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						AGAAGTAGCAGCAATGTCCCA	0.498																																																	0													104.0	91.0	95.0					6																	31668752		2203	4300	6503	SO:0001583	missense	0			AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"""Abhydrolase domain containing"""	13921	protein-coding gene	gene with protein product		142620	"""HLA-B associated transcript 5"""	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.310C>A	6.37:g.31668752G>T	ENSP00000379282:p.Leu104Met		A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Nonsense_Mutation	SNP	NULL	p.C5*	ENST00000395952.3	37	c.15	CCDS4713.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.482400|6.482400	0.97603|0.97603	.|.	.|.	ENSG00000204427|ENSG00000204427	ENST00000538874|ENST00000395952;ENST00000440843	.|.	.|.	.|.	5.13|5.13	4.23|4.23	0.50019|0.50019	.|.	.|0.078285	.|0.52532	.|D	.|0.000066	.|T	.|0.40522	.|0.1120	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	A|A	1|1	.|P;B	.|0.47106	.|0.89;0.243	.|P;B	.|0.46585	.|0.521;0.041	.|T	.|0.36456	.|-0.9747	.|8	.|0.32370	.|T	.|0.25	-4.5763|-4.5763	13.4651|13.4651	0.61249|0.61249	0.0:0.1587:0.8413:0.0|0.0:0.1587:0.8413:0.0	.|.	.|71;104	.|B7Z4R6;O95870	.|.;ABHGA_HUMAN	X|M	5|104;71	.|.	.|ENSP00000379282:L104M	C|L	-|-	3|1	2|2	ABHD16A|ABHD16A	31776731|31776731	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.979000|0.979000	0.70002|0.70002	3.609000|3.609000	0.54117|0.54117	1.249000|1.249000	0.43950|0.43950	0.491000|0.491000	0.48974|0.48974	TGC|CTG	ABHD16A	-	NULL	ENSG00000204427		0.498	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD16A	HGNC	protein_coding	OTTHUMT00000076342.4	-	0.00	95	0	G			31668752	-1	tier1	-	no_errors	ENST00000538874	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	1.000	T
ABHD16B	140701	genome.wustl.edu	37	20	62493609	62493609	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr20:62493609C>T	ENST00000369916.3	+	1	1044	c.716C>T	c.(715-717)gCg>gTg	p.A239V	C20ORF135_ENST00000601296.1_5'Flank|TPD52L2_ENST00000369927.4_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	239							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						TTCCCGCCCGCGCACCTGGTG	0.682																																																	0													37.0	30.0	32.0					20																	62493609		2203	4297	6500	SO:0001583	missense	0				CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"""Abhydrolase domain containing"""	16128	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 135"""	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.716C>T	20.37:g.62493609C>T	ENSP00000358932:p.Ala239Val			Missense_Mutation	SNP	pfam_AB_hydrolase_1	p.A239V	ENST00000369916.3	37	c.716	CCDS13539.1	20	.	.	.	.	.	.	.	.	.	.	C	9.227	1.034915	0.19590	.	.	ENSG00000183260	ENST00000369916	T	0.44482	0.92	4.89	2.74	0.32292	.	0.710929	0.13691	N	0.369545	T	0.33673	0.0871	L	0.42245	1.32	0.09310	N	1	P	0.39520	0.676	B	0.39217	0.294	T	0.20672	-1.0268	10	0.66056	D	0.02	-8.1462	6.6082	0.22737	0.4304:0.4195:0.1501:0.0	.	239	Q9H3Z7	ABHGB_HUMAN	V	239	ENSP00000358932:A239V	ENSP00000358932:A239V	A	+	2	0	ABHD16B	61964053	0.000000	0.05858	0.064000	0.19789	0.237000	0.25408	0.347000	0.20014	1.031000	0.39867	0.313000	0.20887	GCG	ABHD16B	-	pfam_AB_hydrolase_1	ENSG00000183260		0.682	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD16B	HGNC	protein_coding	OTTHUMT00000080254.1	-	0.00	42	0	C			62493609	+1	tier1	-	no_errors	ENST00000369916	ensembl	human	known	74_37	missense	25.00	21	7	SNP	0.002	T
ACACB	32	genome.wustl.edu	37	12	109702980	109702980	+	Missense_Mutation	SNP	G	G	C			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr12:109702980G>C	ENST00000338432.7	+	51	7127	c.7008G>C	c.(7006-7008)gaG>gaC	p.E2336D	ACACB_ENST00000377854.5_Missense_Mutation_p.E2266D|ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377848.3_Missense_Mutation_p.E2336D			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2336					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)	TCCTCCTGGAGGACCAGGTCA	0.637																																																	0													77.0	70.0	72.0					12																	109702980		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.7008G>C	12.37:g.109702980G>C	ENSP00000341044:p.Glu2336Asp		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.E2336D	ENST00000338432.7	37	c.7008	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989211	0.74589	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000537279	T;T;T	0.34275	1.37;1.37;1.37	4.3	4.3	0.51218	.	0.105018	0.64402	D	0.000006	T	0.41373	0.1156	M	0.64997	1.995	0.80722	D	1	P	0.36010	0.532	B	0.43508	0.422	T	0.43278	-0.9401	10	0.72032	D	0.01	.	9.3582	0.38179	0.1706:0.0:0.8294:0.0	.	2336	O00763	ACACB_HUMAN	D	2336;2336;2266;1567;30	ENSP00000341044:E2336D;ENSP00000367079:E2336D;ENSP00000367085:E2266D	ENSP00000341044:E2336D	E	+	3	2	ACACB	108187363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.423000	0.52756	2.122000	0.65172	0.555000	0.69702	GAG	ACACB	-	NULL	ENSG00000076555		0.637	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	-	0.00	82	0	G	NM_001093		109702980	+1	tier1	-	no_errors	ENST00000338432	ensembl	human	known	74_37	missense	30.56	25	11	SNP	1.000	C
AGPAT4	56895	genome.wustl.edu	37	6	161653159	161653159	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr6:161653159G>T	ENST00000320285.4	-	2	299	c.87C>A	c.(85-87)aaC>aaA	p.N29K	AGPAT4_ENST00000457520.2_Missense_Mutation_p.N29K|AGPAT4_ENST00000366908.5_Missense_Mutation_p.N29K|AGPAT4_ENST00000366906.5_Intron|AGPAT4_ENST00000366911.5_Missense_Mutation_p.N29K|AGPAT4_ENST00000366905.3_Missense_Mutation_p.N29K	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	29					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		GCTGAATGGTGTTGATGATTA	0.517																																																	0													157.0	132.0	140.0					6																	161653159		2203	4300	6503	SO:0001583	missense	0			AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.87C>A	6.37:g.161653159G>T	ENSP00000314036:p.Asn29Lys		B4DSF9|Q5TEF0	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.N29K	ENST00000320285.4	37	c.87	CCDS5280.1	6	.	.	.	.	.	.	.	.	.	.	G	14.38	2.518553	0.44763	.	.	ENSG00000026652	ENST00000366911;ENST00000320285;ENST00000457520;ENST00000366908;ENST00000366905	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.7	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.60038	0.2238	M	0.88979	2.995	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;0.993	D;P;D;P	0.87578	0.998;0.867;0.998;0.782	T	0.69179	-0.5213	10	0.87932	D	0	-23.1015	10.7816	0.46382	0.1443:0.0:0.8557:0.0	.	29;29;29;29	B4DIY1;B4DHC0;B4DSF9;Q9NRZ5	.;.;.;PLCD_HUMAN	K	29	ENSP00000355878:N29K;ENSP00000314036:N29K;ENSP00000407007:N29K;ENSP00000355875:N29K;ENSP00000355872:N29K	ENSP00000314036:N29K	N	-	3	2	AGPAT4	161573149	1.000000	0.71417	0.417000	0.26559	0.088000	0.18126	2.799000	0.47892	1.423000	0.47198	-0.142000	0.14014	AAC	AGPAT4	-	NULL	ENSG00000026652		0.517	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT4	HGNC	protein_coding	OTTHUMT00000042983.1	-	0.00	52	0	G	NM_020133		161653159	-1	tier1	-	no_errors	ENST00000320285	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T
ANAPC1	64682	genome.wustl.edu	37	2	112620071	112620071	+	Missense_Mutation	SNP	G	G	C			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr2:112620071G>C	ENST00000341068.3	-	10	1929	c.1157C>G	c.(1156-1158)tCt>tGt	p.S386C		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	386					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						ACTATTTGGAGAATGAGAAAT	0.408																																																	0													46.0	43.0	44.0					2																	112620071		2201	4300	6501	SO:0001583	missense	0			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1157C>G	2.37:g.112620071G>C	ENSP00000339109:p.Ser386Cys		Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	NULL	p.S386C	ENST00000341068.3	37	c.1157	CCDS2093.1	2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216835	0.79352	.	.	ENSG00000153107	ENST00000341068	.	.	.	5.64	5.64	0.86602	.	0.552350	0.13594	U	0.376375	T	0.77665	0.4164	L	0.60455	1.87	0.51482	D	0.999926	D	0.69078	0.997	D	0.73708	0.981	T	0.75841	-0.3175	9	0.56958	D	0.05	-20.5779	17.8705	0.88810	0.0:0.0:1.0:0.0	.	386	Q9H1A4	APC1_HUMAN	C	386	.	ENSP00000339109:S386C	S	-	2	0	ANAPC1	112336542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.205000	0.89743	2.645000	0.89757	0.655000	0.94253	TCT	ANAPC1	-	NULL	ENSG00000153107		0.408	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC1	HGNC	protein_coding	OTTHUMT00000254045.2		0.00	122	0	G	NM_022662		112620071	-1			no_errors	ENST00000341068	ensembl	human	known	74_37	missense	5.63	66	4	SNP	1.000	C
AP3B1	8546	genome.wustl.edu	37	5	77511947	77511947	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr5:77511947C>G	ENST00000255194.6	-	7	893	c.718G>C	c.(718-720)Ggg>Cgg	p.G240R	AP3B1_ENST00000519295.1_Missense_Mutation_p.G191R	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	240					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ACAACCTGCCCCCACTCTTCA	0.423									Hermansky-Pudlak syndrome																																								0													140.0	134.0	136.0					5																	77511947		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.718G>C	5.37:g.77511947C>G	ENSP00000255194:p.Gly240Arg		E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	p.G240R	ENST00000255194.6	37	c.718	CCDS4041.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.113843	0.94339	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.12984	2.63;2.63	5.54	5.54	0.83059	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55257	0.1909	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71639	-0.4532	10	0.87932	D	0	-6.6708	19.497	0.95077	0.0:1.0:0.0:0.0	.	240	O00203	AP3B1_HUMAN	R	240;191;240;144	ENSP00000255194:G240R;ENSP00000430597:G191R	ENSP00000255194:G240R	G	-	1	0	AP3B1	77547703	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.772000	0.85439	2.613000	0.88420	0.655000	0.94253	GGG	AP3B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	ENSG00000132842		0.423	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	HGNC	protein_coding	OTTHUMT00000225548.2	-	0.00	71	0	C			77511947	-1	tier1	-	no_errors	ENST00000255194	ensembl	human	known	74_37	missense	21.28	37	10	SNP	1.000	G
APH1A	51107	genome.wustl.edu	37	1	150238905	150238905	+	Intron	SNP	G	G	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:150238905G>A	ENST00000369109.3	-	6	922				APH1A_ENST00000360244.4_3'UTR|APH1A_ENST00000461320.1_5'UTR|C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000414276.2_Intron	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit						amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GATCTGTCAGGCGATCAGTCC	0.597																																																	0													30.0	33.0	32.0					1																	150238905		2074	4217	6291	SO:0001627	intron_variant	0			AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.733+27C>T	1.37:g.150238905G>A			B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	RNA	SNP	-	NULL	ENST00000369109.3	37	NULL	CCDS41390.1	1																																																																																			APH1A	-	-	ENSG00000117362		0.597	APH1A-002	KNOWN	basic|CCDS	protein_coding	APH1A	HGNC	protein_coding	OTTHUMT00000035048.1	-	0.00	95	0	G	NM_016022		150238905	-1	tier1	-	no_errors	ENST00000461320	ensembl	human	known	74_37	rna	11.32	47	6	SNP	1.000	A
ARMC3	219681	genome.wustl.edu	37	10	23292215	23292215	+	Missense_Mutation	SNP	C	C	T	rs148669748		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr10:23292215C>T	ENST00000298032.5	+	13	1687	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	ARMC3_ENST00000409049.3_Missense_Mutation_p.R535W|ARMC3_ENST00000376528.4_Missense_Mutation_p.R272W|ARMC3_ENST00000409983.3_Missense_Mutation_p.R535W	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	535						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATCAGGAACTCGGAAAAATAA	0.353																																																	0								C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	94.0	94.0	94.0		1603	3.4	1.0	10	dbSNP_134	94	0,8600		0,0,4300	no	missense	ARMC3	NM_173081.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	535/873	23292215	1,13005	2203	4300	6503	SO:0001583	missense	0			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1603C>T	10.37:g.23292215C>T	ENSP00000298032:p.Arg535Trp		A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R535W	ENST00000298032.5	37	c.1603	CCDS7142.1	10	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859771	0.71834	2.27E-4	0.0	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.44881	0.94;0.94;0.91;2.17	5.53	3.44	0.39384	Armadillo-like helical (1);	0.585375	0.18239	N	0.147281	T	0.62974	0.2472	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.941	T	0.66732	-0.5849	10	0.87932	D	0	-8.7262	12.1948	0.54290	0.1331:0.7385:0.1284:0.0	.	535;535	Q5W041-4;Q5W041	.;ARMC3_HUMAN	W	535;535;471;535;272	ENSP00000298032:R535W;ENSP00000386943:R535W;ENSP00000387288:R535W;ENSP00000365711:R272W	ENSP00000298032:R535W	R	+	1	2	ARMC3	23332221	0.969000	0.33509	1.000000	0.80357	0.752000	0.42762	2.313000	0.43735	2.590000	0.87494	0.563000	0.77884	CGG	ARMC3	-	NULL	ENSG00000165309		0.353	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARMC3	HGNC	protein_coding	OTTHUMT00000047197.2	-	0.00	56	0	C	NM_173081		23292215	+1	tier1	rs148669748	no_errors	ENST00000298032	ensembl	human	known	74_37	missense	30.56	25	11	SNP	0.995	T
ASNS	440	genome.wustl.edu	37	7	97481609	97481609	+	Missense_Mutation	SNP	G	G	C	rs398122974		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr7:97481609G>C	ENST00000394309.3	-	13	2119	c.1648C>G	c.(1648-1650)Cgc>Ggc	p.R550G	ASNS_ENST00000455086.1_Missense_Mutation_p.R467G|ASNS_ENST00000422745.1_Missense_Mutation_p.R529G|ASNS_ENST00000175506.4_Missense_Mutation_p.R550G|ASNS_ENST00000437628.1_Missense_Mutation_p.R467G|ASNS_ENST00000444334.1_Missense_Mutation_p.R529G|ASNS_ENST00000394308.3_Missense_Mutation_p.R550G	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	550			R -> C (in ASNSD; increases level of protein abundance). {ECO:0000269|PubMed:24139043}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GTCAGCGTGCGGGCAGAAGGG	0.507																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)												0													81.0	72.0	75.0					7																	97481609		2203	4300	6503	SO:0001583	missense	0			M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.1648C>G	7.37:g.97481609G>C	ENSP00000377846:p.Arg550Gly		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB	p.R550G	ENST00000394309.3	37	c.1648	CCDS5652.1	7	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004356	0.74932	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334	T;T;T;T;T;T;T	0.58060	0.38;0.38;0.36;0.38;0.41;0.36;0.41	5.23	5.23	0.72850	.	0.052893	0.85682	D	0.000000	T	0.80999	0.4732	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86627	0.1883	10	0.87932	D	0	-7.426	16.6738	0.85273	0.0:0.0:1.0:0.0	.	550	P08243	ASNS_HUMAN	G	550;550;467;550;529;467;529	ENSP00000175506:R550G;ENSP00000377846:R550G;ENSP00000414379:R467G;ENSP00000377845:R550G;ENSP00000414901:R529G;ENSP00000408472:R467G;ENSP00000406994:R529G	ENSP00000175506:R550G	R	-	1	0	ASNS	97319545	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	4.809000	0.62591	2.609000	0.88269	0.561000	0.74099	CGC	ASNS	-	NULL	ENSG00000070669		0.507	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASNS	HGNC	protein_coding	OTTHUMT00000333645.1	-	0.00	54	0	G	NM_001673, NM_183356		97481609	-1	tier1	-	no_errors	ENST00000175506	ensembl	human	known	74_37	missense	5.56	85	5	SNP	1.000	C
B4GALT6	9331	genome.wustl.edu	37	18	29210978	29210978	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr18:29210978G>T	ENST00000306851.5	-	6	1016	c.720C>A	c.(718-720)taC>taA	p.Y240*	B4GALT6_ENST00000237019.7_Nonsense_Mutation_p.Y201*|B4GALT6_ENST00000383131.3_Nonsense_Mutation_p.Y201*	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	240					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)	p.Y240Y(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			CTCCACATCCGTAATAGTTCC	0.403																																																	1	Substitution - coding silent(1)	endometrium(1)											161.0	135.0	144.0					18																	29210978		2203	4300	6503	SO:0001587	stop_gained	0			AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"""Beta 4-glycosyltransferases"""	929	protein-coding gene	gene with protein product	"""UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"""	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.720C>A	18.37:g.29210978G>T	ENSP00000306459:p.Tyr240*		O60514|Q6NT09	Nonsense_Mutation	SNP	pfam_Galactosyl_T_C,prints_Galactosyl_T	p.Y240*	ENST00000306851.5	37	c.720	CCDS11900.1	18	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863785	0.71949	.	.	ENSG00000118276	ENST00000306851;ENST00000237019;ENST00000383131	.	.	.	5.5	-8.06	0.01102	.	0.083044	0.51477	D	0.000082	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.2684	19.7104	0.96095	0.7244:0.0:0.2756:0.0	.	.	.	.	X	240;201;201	.	ENSP00000237019:Y201X	Y	-	3	2	B4GALT6	27464976	0.041000	0.20044	0.194000	0.23346	0.964000	0.63967	-0.469000	0.06648	-1.819000	0.01216	-0.482000	0.04802	TAC	B4GALT6	-	pfam_Galactosyl_T_C,prints_Galactosyl_T	ENSG00000118276		0.403	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT6	HGNC	protein_coding	OTTHUMT00000254942.2	-	0.00	82	0	G	NM_004775		29210978	-1	tier1	-	no_errors	ENST00000306851	ensembl	human	known	74_37	nonsense	20.51	31	8	SNP	0.340	T
C6orf118	168090	genome.wustl.edu	37	6	165715349	165715349	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr6:165715349C>G	ENST00000230301.8	-	2	482	c.462G>C	c.(460-462)gaG>gaC	p.E154D	C6orf118_ENST00000543069.1_Missense_Mutation_p.E50D	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	154										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTTCCTTCCCCTCTCTGACAG	0.612																																																	0													51.0	60.0	57.0					6																	165715349		2203	4300	6503	SO:0001583	missense	0				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.462G>C	6.37:g.165715349C>G	ENSP00000230301:p.Glu154Asp		Q8TC11	Missense_Mutation	SNP	superfamily_Ribonuclease/ribotoxin	p.E154D	ENST00000230301.8	37	c.462	CCDS5288.1	6	.	.	.	.	.	.	.	.	.	.	C	6.973	0.549455	0.13374	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.14022	2.54;2.54	4.9	-9.8	0.00490	.	1.527390	0.03916	N	0.282773	T	0.02767	0.0083	L	0.40543	1.245	0.09310	N	1	B	0.18461	0.028	B	0.16722	0.016	T	0.19976	-1.0289	10	0.26408	T	0.33	.	9.4477	0.38708	0.0:0.4405:0.3313:0.2281	.	154	Q5T5N4	CF118_HUMAN	D	154;50	ENSP00000230301:E154D;ENSP00000439288:E50D	ENSP00000230301:E154D	E	-	3	2	C6orf118	165635339	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.197000	0.03038	-2.201000	0.00746	-1.202000	0.01658	GAG	C6orf118	-	superfamily_Ribonuclease/ribotoxin	ENSG00000112539		0.612	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf118	HGNC	protein_coding	OTTHUMT00000043026.1	-	0.00	62	0	C	NM_144980		165715349	-1	tier1	-	no_errors	ENST00000230301	ensembl	human	known	74_37	missense	22.58	24	7	SNP	0.000	G
CACNA2D1	781	genome.wustl.edu	37	7	81964469	81964469	+	Silent	SNP	G	G	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr7:81964469G>A	ENST00000356253.5	-	3	531	c.276C>T	c.(274-276)aaC>aaT	p.N92N	CACNA2D1_ENST00000423588.1_Silent_p.N92N|CACNA2D1_ENST00000356860.3_Silent_p.N92N			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	92					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTTTAGATCTGTTGCTCAGAA	0.348																																																	0													185.0	192.0	189.0					7																	81964469		2203	4300	6503	SO:0001819	synonymous_variant	0			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.276C>T	7.37:g.81964469G>A			Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.N92	ENST00000356253.5	37	c.276		7																																																																																			CACNA2D1	-	NULL	ENSG00000153956		0.348	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	HGNC	protein_coding		-	0.00	80	0	G			81964469	-1	tier1	-	no_errors	ENST00000356253	ensembl	human	known	74_37	silent	17.78	37	8	SNP	1.000	A
CAMSAP2	23271	genome.wustl.edu	37	1	200730051	200730051	+	Missense_Mutation	SNP	T	T	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:200730051T>A	ENST00000236925.4	+	2	273	c.224T>A	c.(223-225)cTt>cAt	p.L75H	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.L75H|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.L75H			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	75					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										GTTAATTTGCTTCTATCGGCT	0.423																																																	0													171.0	172.0	172.0					1																	200730051		2203	4300	6503	SO:0001583	missense	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.224T>A	1.37:g.200730051T>A	ENSP00000236925:p.Leu75His		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.L75H	ENST00000236925.4	37	c.224		1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.687715	0.88639	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.34859	1.35;1.45;1.34	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.64136	0.2571	M	0.83223	2.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.69815	-0.5043	10	0.87932	D	0	-20.5203	15.7759	0.78214	0.0:0.0:0.0:1.0	.	75;75;75	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	H	75	ENSP00000351684:L75H;ENSP00000416800:L75H;ENSP00000236925:L75H	ENSP00000236925:L75H	L	+	2	0	CAMSAP1L1	198996674	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	7.525000	0.81892	2.308000	0.77769	0.533000	0.62120	CTT	CAMSAP2	-	NULL	ENSG00000118200		0.423	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	-	0.00	50	0	T	NM_203459		200730051	+1	tier1	-	no_errors	ENST00000236925	ensembl	human	known	74_37	missense	16.22	31	6	SNP	1.000	A
CCDC88B	283234	genome.wustl.edu	37	11	64111870	64111870	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr11:64111870G>T	ENST00000356786.5	+	14	1901	c.1857G>T	c.(1855-1857)ttG>ttT	p.L619F	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	619						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCCGCAGTTGCTGGGAGGAG	0.647																																																	0													30.0	33.0	32.0					11																	64111870		2201	4297	6498	SO:0001583	missense	0			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1857G>T	11.37:g.64111870G>T	ENSP00000349238:p.Leu619Phe		A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	pfam_Hook-related_fam	p.L619F	ENST00000356786.5	37	c.1857	CCDS8072.2	11	.	.	.	.	.	.	.	.	.	.	g	9.273	1.046177	0.19748	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.26373	1.74	2.75	-3.78	0.04333	.	.	.	.	.	T	0.15998	0.0385	N	0.24115	0.695	0.09310	N	0.999999	B;P;B	0.41498	0.41;0.752;0.41	B;P;B	0.45099	0.146;0.469;0.146	T	0.12785	-1.0534	9	0.56958	D	0.05	.	1.9259	0.03317	0.1161:0.1586:0.2466:0.4787	.	619;268;619	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	F	619	ENSP00000349238:L619F	ENSP00000349238:L619F	L	+	3	2	CCDC88B	63868446	0.001000	0.12720	0.000000	0.03702	0.183000	0.23260	0.371000	0.20450	-0.896000	0.03915	-0.724000	0.03597	TTG	CCDC88B	-	NULL	ENSG00000168071		0.647	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	HGNC	protein_coding	OTTHUMT00000104845.1	-	0.00	103	0	G	NM_032251		64111870	+1	tier1	-	no_errors	ENST00000356786	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.000	T
CD93	22918	genome.wustl.edu	37	20	23066567	23066567	+	Missense_Mutation	SNP	G	G	T	rs375847570	byFrequency	TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr20:23066567G>T	ENST00000246006.4	-	1	410	c.263C>A	c.(262-264)gCg>gAg	p.A88E		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	88	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCTCATCCTCGCCGTCAGGGC	0.662																																																	0													38.0	29.0	32.0					20																	23066567		2202	4298	6500	SO:0001583	missense	0			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.263C>A	20.37:g.23066567G>T	ENSP00000246006:p.Ala88Glu		O00274	Missense_Mutation	SNP	pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin	p.A88E	ENST00000246006.4	37	c.263	CCDS13149.1	20	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.270145	0.00259	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	T	0.80123	-1.34	5.16	-0.457	0.12186	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.735860	0.03036	N	0.152810	T	0.56558	0.1993	N	0.04297	-0.235	0.09310	N	1	B	0.23377	0.084	B	0.27262	0.078	T	0.50833	-0.8781	10	0.08381	T	0.77	-2.1077	1.5173	0.02509	0.3102:0.1256:0.4245:0.1397	.	88	Q9NPY3	C1QR1_HUMAN	E	88	ENSP00000246006:A88E	ENSP00000246006:A88E	A	-	2	0	CD93	23014567	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.222000	0.09190	-0.129000	0.11620	-0.150000	0.13652	GCG	CD93	-	pirsf_CD93/CD141,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000125810		0.662	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD93	HGNC	protein_coding	OTTHUMT00000078312.2	-	0.00	122	0	G	NM_012072		23066567	-1	tier1	-	no_errors	ENST00000246006	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.000	T
CEP152	22995	genome.wustl.edu	37	15	49083507	49083507	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr15:49083507C>G	ENST00000380950.2	-	8	1086	c.899G>C	c.(898-900)aGa>aCa	p.R300T	CEP152_ENST00000325747.5_Missense_Mutation_p.R207T|CEP152_ENST00000399334.3_Missense_Mutation_p.R300T	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	300					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTGTATCTCTCTTTCTTTTCC	0.328																																																	0													132.0	118.0	123.0					15																	49083507		1821	4081	5902	SO:0001583	missense	0			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.899G>C	15.37:g.49083507C>G	ENSP00000370337:p.Arg300Thr		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.R300T	ENST00000380950.2	37	c.899	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	C	18.93	3.728114	0.69074	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.79940	-1.32;-1.32;-1.32	5.56	4.45	0.53987	.	0.090108	0.85682	D	0.000000	D	0.86020	0.5833	M	0.72894	2.215	0.34058	D	0.656944	P;D;D	0.76494	0.952;0.999;0.999	P;P;D	0.63283	0.544;0.866;0.913	D	0.89389	0.3687	10	0.56958	D	0.05	-21.5976	10.1494	0.42784	0.1384:0.7823:0.0:0.0793	.	207;300;300	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	T	300;207;300;300	ENSP00000370337:R300T;ENSP00000321000:R207T;ENSP00000382271:R300T	ENSP00000321000:R207T	R	-	2	0	CEP152	46870799	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.646000	0.46630	2.613000	0.88420	0.655000	0.94253	AGA	CEP152	-	NULL	ENSG00000103995		0.328	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	-	0.00	95	0	C	NM_014985		49083507	-1	tier1	-	no_errors	ENST00000380950	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	G
CHAC2	494143	genome.wustl.edu	37	2	54001489	54001489	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr2:54001489G>T	ENST00000295304.4	+	3	477	c.382G>T	c.(382-384)Gct>Tct	p.A128S	ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000394717.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000263634.3_Intron	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)	128										endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGAAGACATTGCTGAACAAAT	0.368																																																	0													113.0	112.0	112.0					2																	54001489		2203	4300	6503	SO:0001583	missense	0			BC025376	CCDS33196.1	2p16	2013-09-12	2006-09-12		ENSG00000143942	ENSG00000143942			32363	protein-coding gene	gene with protein product	"""gamma-GCT acting on glutathione homolog 2"""		"""ChaC, cation transport regulator-like 2 (E. coli)"""			23070364	Standard	NM_001008708		Approved		uc002rxk.1	Q8WUX2	OTTHUMG00000151824	ENST00000295304.4:c.382G>T	2.37:g.54001489G>T	ENSP00000295304:p.Ala128Ser		Q8WVI8	Missense_Mutation	SNP	pfam_ChaC	p.A128S	ENST00000295304.4	37	c.382	CCDS33196.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.116975	0.94385	.	.	ENSG00000143942	ENST00000295304	T	0.68181	-0.31	5.92	5.92	0.95590	Butirosin biosynthesis, BtrG-like (1);	0.000000	0.85682	D	0.000000	D	0.85115	0.5623	M	0.88031	2.925	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	D	0.86541	0.1828	10	0.66056	D	0.02	-18.8489	20.3081	0.98638	0.0:0.0:1.0:0.0	.	128	Q8WUX2	CHAC2_HUMAN	S	128	ENSP00000295304:A128S	ENSP00000295304:A128S	A	+	1	0	CHAC2	53854993	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.803000	0.99136	2.795000	0.96236	0.655000	0.94253	GCT	CHAC2	-	pfam_ChaC	ENSG00000143942		0.368	CHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAC2	HGNC	protein_coding	OTTHUMT00000324072.1	-	0.00	66	0	G	NM_001008708		54001489	+1	tier1	-	no_errors	ENST00000295304	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	T
CHRM3	1131	genome.wustl.edu	37	1	240072404	240072404	+	Silent	SNP	C	C	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:240072404C>T	ENST00000255380.4	+	5	2432	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	551					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACAAAACATTCAGAACCACTT	0.498																																																	0													70.0	65.0	67.0					1																	240072404		2203	4300	6503	SO:0001819	synonymous_variant	0			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1653C>T	1.37:g.240072404C>T			Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.F551	ENST00000255380.4	37	c.1653	CCDS1616.1	1																																																																																			CHRM3	-	prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	ENSG00000133019		0.498	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	HGNC	protein_coding	OTTHUMT00000095644.2	-	0.00	79	0	C	NM_000740		240072404	+1	tier1	-	no_errors	ENST00000255380	ensembl	human	known	74_37	silent	15.25	50	9	SNP	1.000	T
CNTNAP4	85445	genome.wustl.edu	37	16	76461364	76461364	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr16:76461364G>T	ENST00000476707.1	+	3	554	c.415G>T	c.(415-417)Gca>Tca	p.A139S	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.A111S|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.A135S|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.A135S			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	136	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTCAGGAAATGCAAATGCAGA	0.418																																																	0													191.0	192.0	192.0					16																	76461364		2198	4300	6498	SO:0001583	missense	0			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.415G>T	16.37:g.76461364G>T	ENSP00000417628:p.Ala139Ser		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.A135S	ENST00000476707.1	37	c.403		16	.	.	.	.	.	.	.	.	.	.	G	7.067	0.567529	0.13560	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22	4.98	1.9	0.25705	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.410430	0.17885	N	0.158726	D	0.91566	0.7336	.	.	.	0.28083	N	0.932101	B;B;B;B	0.15719	0.001;0.014;0.0;0.007	B;B;B;B	0.22152	0.007;0.016;0.003;0.038	T	0.82424	-0.0464	9	0.28530	T	0.3	.	2.3124	0.04190	0.3468:0.0:0.4277:0.2256	.	111;139;111;136	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	S	135;135;111;139	ENSP00000306893:A135S;ENSP00000439733:A135S;ENSP00000418741:A111S;ENSP00000417628:A139S	ENSP00000306893:A135S	A	+	1	0	CNTNAP4	75018865	0.971000	0.33674	0.999000	0.59377	0.991000	0.79684	1.546000	0.36179	0.771000	0.33359	0.655000	0.94253	GCA	CNTNAP4	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000152910		0.418	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	HGNC	protein_coding	OTTHUMT00000348216.1	-	0.00	92	0	G	NM_033401		76461364	+1	tier1	-	no_errors	ENST00000307431	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T
COL5A3	50509	genome.wustl.edu	37	19	10083616	10083616	+	Silent	SNP	C	C	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr19:10083616C>T	ENST00000264828.3	-	51	3838	c.3753G>A	c.(3751-3753)gaG>gaA	p.E1251E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1251	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TGGCTCCATCCTCTCCAGGGG	0.567																																																	0													37.0	30.0	32.0					19																	10083616		2202	4300	6502	SO:0001819	synonymous_variant	0			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3753G>A	19.37:g.10083616C>T			Q9NZQ6	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.E1251	ENST00000264828.3	37	c.3753	CCDS12222.1	19																																																																																			COL5A3	-	NULL	ENSG00000080573		0.567	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	HGNC	protein_coding	OTTHUMT00000315788.1	-	0.00	84	0	C	NM_015719		10083616	-1	tier1	-	no_errors	ENST00000264828	ensembl	human	known	74_37	silent	21.05	45	12	SNP	1.000	T
CPT2	1376	genome.wustl.edu	37	1	53675749	53675749	+	Missense_Mutation	SNP	A	A	G			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:53675749A>G	ENST00000371486.3	+	4	918	c.403A>G	c.(403-405)Atg>Gtg	p.M135V	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	135					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	TAATCCATTTATGGCTTTCAA	0.403																																																	0													107.0	112.0	111.0					1																	53675749		2203	4300	6503	SO:0001583	missense	0			BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"""carnitine palmitoyltransferase II"""	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.403A>G	1.37:g.53675749A>G	ENSP00000360541:p.Met135Val		B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.M135V	ENST00000371486.3	37	c.403	CCDS575.1	1	.	.	.	.	.	.	.	.	.	.	A	10.67	1.416416	0.25552	.	.	ENSG00000157184	ENST00000371486	D	0.88741	-2.42	5.69	1.98	0.26296	.	0.229593	0.64402	N	0.000015	T	0.79805	0.4509	L	0.45137	1.4	0.49582	D	0.999809	B	0.09022	0.002	B	0.12156	0.007	T	0.63427	-0.6640	10	0.07813	T	0.8	-0.4944	6.4067	0.21668	0.7522:0.0:0.1304:0.1174	.	135	P23786	CPT2_HUMAN	V	135	ENSP00000360541:M135V	ENSP00000360541:M135V	M	+	1	0	CPT2	53448337	1.000000	0.71417	0.645000	0.29479	0.993000	0.82548	2.961000	0.49168	0.072000	0.16694	0.528000	0.53228	ATG	CPT2	-	pfam_Carn_acyl_trans	ENSG00000157184		0.403	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT2	HGNC	protein_coding	OTTHUMT00000024757.1		0.00	58	0	A	NM_000098		53675749	+1			no_errors	ENST00000371486	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	G
DACH2	117154	genome.wustl.edu	37	X	85997699	85997699	+	Intron	SNP	A	A	C			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chrX:85997699A>C	ENST00000373125.4	+	7	1240				DACH2_ENST00000510272.1_Intron|DACH2_ENST00000508860.1_Intron|DACH2_ENST00000373131.1_Intron	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2						development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TAATGGACTAACCATCAAAAA	0.294																																																	0																																										SO:0001627	intron_variant	0			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1240+2814A>C	X.37:g.85997699A>C			B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.T432P	ENST00000373125.4	37	c.1294	CCDS14455.1	X																																																																																			DACH2	-	NULL	ENSG00000126733		0.294	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACH2	HGNC	protein_coding	OTTHUMT00000359266.1	-	0.00	74	0	A	NM_053281		85997699	+1	tier1	-	no_errors	ENST00000461604	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.954	C
DEPDC1B	55789	genome.wustl.edu	37	5	59982979	59982979	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr5:59982979G>T	ENST00000265036.5	-	2	191	c.124C>A	c.(124-126)Cat>Aat	p.H42N	DEPDC1B_ENST00000453022.2_Missense_Mutation_p.H42N|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.H15N	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	42	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				GTGAAACAATGCTCATAGCTC	0.512																																																	0													98.0	89.0	92.0					5																	59982979		2203	4300	6503	SO:0001583	missense	0			AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"""breast cancer cell 3"""					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.124C>A	5.37:g.59982979G>T	ENSP00000265036:p.His42Asn		A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Missense_Mutation	SNP	pfam_DEP_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom,pfscan_RhoGAP_dom	p.H42N	ENST00000265036.5	37	c.124	CCDS3977.1	5	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.595107	0.00857	.	.	ENSG00000035499	ENST00000265036;ENST00000453022;ENST00000545085	T;T;T	0.16897	2.31;2.31;2.31	5.74	4.86	0.63082	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.330630	0.38217	N	0.001769	T	0.04363	0.0120	N	0.00217	-1.83	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.30001	-0.9993	9	.	.	.	-7.2015	16.5658	0.84599	0.0:0.0:0.8685:0.1315	.	42;42	B4DUT4;Q8WUY9	.;DEP1B_HUMAN	N	42;42;15	ENSP00000265036:H42N;ENSP00000389101:H42N;ENSP00000438320:H15N	.	H	-	1	0	DEPDC1B	60018736	0.001000	0.12720	0.035000	0.18076	0.240000	0.25518	1.166000	0.31834	1.556000	0.49512	0.561000	0.74099	CAT	DEPDC1B	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	ENSG00000035499		0.512	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEPDC1B	HGNC	protein_coding	OTTHUMT00000214207.1		0.00	64	0	G	NM_018369		59982979	-1			no_errors	ENST00000265036	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.086	T
DHX37	57647	genome.wustl.edu	37	12	125434711	125434711	+	Missense_Mutation	SNP	A	A	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr12:125434711A>T	ENST00000308736.2	-	24	3298	c.3200T>A	c.(3199-3201)tTc>tAc	p.F1067Y	DHX37_ENST00000544745.1_Missense_Mutation_p.F854Y	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1067							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TTCCAGCAGGAACCGGGCAAA	0.647																																																	0													60.0	58.0	58.0					12																	125434711		2203	4300	6503	SO:0001583	missense	0			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.3200T>A	12.37:g.125434711A>T	ENSP00000311135:p.Phe1067Tyr		Q9BUI7|Q9P211	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.F1067Y	ENST00000308736.2	37	c.3200	CCDS9261.1	12	.	.	.	.	.	.	.	.	.	.	A	19.25	3.792209	0.70452	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03330	4.02;3.97	5.58	5.58	0.84498	.	0.149022	0.64402	D	0.000007	T	0.18215	0.0437	M	0.82517	2.595	0.80722	D	1	D;D	0.71674	0.989;0.998	D;D	0.63381	0.914;0.91	T	0.00647	-1.1628	10	0.44086	T	0.13	-6.2626	15.7362	0.77846	1.0:0.0:0.0:0.0	.	854;1067	F5H3Y4;Q8IY37	.;DHX37_HUMAN	Y	1067;854	ENSP00000311135:F1067Y;ENSP00000439009:F854Y	ENSP00000311135:F1067Y	F	-	2	0	DHX37	124000664	1.000000	0.71417	0.207000	0.23584	0.138000	0.21146	7.337000	0.79256	2.122000	0.65172	0.454000	0.30748	TTC	DHX37	-	NULL	ENSG00000150990		0.647	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX37	HGNC	protein_coding		-	0.00	150	0	A	NM_032656		125434711	-1	tier1	-	no_errors	ENST00000308736	ensembl	human	known	74_37	missense	7.41	75	6	SNP	1.000	T
DNM1P47	100216544	genome.wustl.edu	37	15	102304719	102304719	+	RNA	SNP	C	C	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr15:102304719C>A	ENST00000561463.1	+	0	12765									DNM1 pseudogene 47																		CCTGCACTCGCGTGGGAACGA	0.627																																																	0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304719C>A				RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			DNM1P47	-	-	ENSG00000259660		0.627	DNM1P47-001	KNOWN	basic	processed_transcript	DNM1P47	HGNC	pseudogene	OTTHUMT00000417589.1	-	0.00	80	0	C	NG_009149		102304719	+1	tier1	-	no_errors	ENST00000561463	ensembl	human	known	74_37	rna	10.53	34	4	SNP	0.990	A
DXO	1797	genome.wustl.edu	37	6	31939108	31939108	+	Silent	SNP	G	G	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr6:31939108G>T	ENST00000375349.3	-	2	756	c.345C>A	c.(343-345)ggC>ggA	p.G115G	DXO_ENST00000337523.5_Silent_p.G115G|STK19_ENST00000375331.2_5'Flank|DXO_ENST00000478221.1_Intron|DXO_ENST00000375356.3_Silent_p.G115G|STK19_ENST00000375333.2_5'Flank			O77932	DXO_HUMAN	decapping exoribonuclease	115					metabolic process (GO:0008152)|mRNA catabolic process (GO:0006402)|nuclear mRNA surveillance (GO:0071028)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA destabilization (GO:0050779)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|magnesium ion binding (GO:0000287)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA pyrophosphohydrolase activity (GO:0034353)										CCTCCAACCGGCCTCGGTGTT	0.587																																																	0													40.0	38.0	39.0					6																	31939108		2203	4300	6503	SO:0001819	synonymous_variant	0			AF059252	CCDS4732.1	6p21.3	2013-09-11	2013-09-11	2013-09-11	ENSG00000204348	ENSG00000204348			2992	protein-coding gene	gene with protein product		605996	"""DOM-3 (C. elegans) homolog Z"", ""dom-3 homolog Z (C. elegans)"""	DOM3Z		9799600, 23523372	Standard	NM_005510		Approved		uc003nyp.1	O77932	OTTHUMG00000031272	ENST00000375349.3:c.345C>A	6.37:g.31939108G>T			A2CER3|B0UZ80|O15004|O78127|O78128|Q5ST60|Q6IPZ2|Q9NPK4	Silent	SNP	pfam_RAI1	p.G115	ENST00000375349.3	37	c.345	CCDS4732.1	6																																																																																			DXO	-	NULL	ENSG00000204348		0.587	DXO-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	DXO	HGNC	protein_coding	OTTHUMT00000076592.3		0.00	101	0	G			31939108	-1			no_errors	ENST00000337523	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.998	T
DYRK1B	9149	genome.wustl.edu	37	19	40319120	40319120	+	Silent	SNP	G	G	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr19:40319120G>A	ENST00000593685.1	-	6	1092	c.624C>T	c.(622-624)ggC>ggT	p.G208G	DYRK1B_ENST00000348817.3_Silent_p.G208G|DYRK1B_ENST00000597639.1_Silent_p.G208G|DYRK1B_ENST00000323039.5_Silent_p.G208G|DYRK1B_ENST00000430012.2_Silent_p.G208G			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TCAGCGAGACGCCGCGGAAGT	0.602																																																	0													68.0	65.0	66.0					19																	40319120		2203	4300	6503	SO:0001819	synonymous_variant	0			Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.624C>T	19.37:g.40319120G>A			O75258|O75788|O75789	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.G208	ENST00000593685.1	37	c.624	CCDS12543.1	19																																																																																			DYRK1B	-	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	ENSG00000105204		0.602	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DYRK1B	HGNC	protein_coding	OTTHUMT00000462874.2		0.00	59	0	G	NM_004714		40319120	-1			no_errors	ENST00000323039	ensembl	human	known	74_37	silent	7.69	36	3	SNP	0.190	A
EDIL3	10085	genome.wustl.edu	37	5	83239272	83239272	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr5:83239272C>T	ENST00000296591.5	-	11	1827	c.1409G>A	c.(1408-1410)cGg>cAg	p.R470Q	EDIL3_ENST00000380138.3_Missense_Mutation_p.R460Q	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	470	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CAGCTCTGACCGCAATGTGAT	0.483																																																	0													140.0	128.0	132.0					5																	83239272		2203	4300	6503	SO:0001583	missense	0			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.1409G>A	5.37:g.83239272C>T	ENSP00000296591:p.Arg470Gln		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.R470Q	ENST00000296591.5	37	c.1409	CCDS4062.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.145986	0.94603	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98666	-5.06;-5.06	5.52	5.52	0.82312	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99501	0.9822	H	0.96996	3.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.98194	1.0464	10	0.87932	D	0	-20.2633	19.448	0.94855	0.0:1.0:0.0:0.0	.	460;470	O43854-2;O43854	.;EDIL3_HUMAN	Q	470;460	ENSP00000296591:R470Q;ENSP00000369483:R460Q	ENSP00000296591:R470Q	R	-	2	0	EDIL3	83275028	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.398000	0.79919	2.617000	0.88574	0.655000	0.94253	CGG	EDIL3	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000164176		0.483	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EDIL3	HGNC	protein_coding	OTTHUMT00000239258.1	-	0.00	152	0	C	NM_005711		83239272	-1	tier1	-	no_errors	ENST00000296591	ensembl	human	known	74_37	missense	8.22	67	6	SNP	1.000	T
TUBB8P12	260334	genome.wustl.edu	37	18	49110	49110	+	Missense_Mutation	SNP	A	A	G	rs62075714		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr18:49110A>G	ENST00000573909.1	-	2	641	c.109T>C	c.(109-111)Tcc>Ccc	p.S37P	RP11-683L23.1_ENST00000308911.6_Intron|RP11-683L23.1_ENST00000594555.1_5'Flank																							GGGCGGTGGGAGAAGGACGGG	0.711																																																	0																																										SO:0001583	missense	0																														ENST00000573909.1:c.109T>C	18.37:g.49110A>G	ENSP00000459638:p.Ser37Pro			Missense_Mutation	SNP	pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin	p.S37P	ENST00000573909.1	37	c.109		18																																																																																			RP11-683L23.1	-	smart_Tubulin_FtsZ_GTPase	ENSG00000173213		0.711	RP11-683L23.1-002	PUTATIVE	not_best_in_genome_evidence|basic	protein_coding	ENSG00000173213	Clone_based_vega_gene	protein_coding	OTTHUMT00000439819.1	-	0.00	47	0	A			49110	-1	tier1	rs62075714	no_errors	ENST00000573909	ensembl	human	putative	74_37	missense	20.59	27	7	SNP	0.863	G
SNORA2	0	genome.wustl.edu	37	1	84743069	84743069	+	RNA	SNP	G	G	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:84743069G>A	ENST00000363089.1	+	0	66																											CTAAATAATTGTCTTTTCATG	0.333																																																	0																																												0																															1.37:g.84743069G>A				RNA	SNP	-	NULL	ENST00000363089.1	37	NULL		1																																																																																			SNORA2	-	-	ENSG00000199959		0.333	SNORA2.1-201	KNOWN	basic	snoRNA	ENSG00000199959	RFAM	snoRNA		-	0.00	16	0	G			84743069	+1	tier1	-	no_errors	ENST00000363089	ensembl	human	known	74_37	rna	23.53	13	4	SNP	0.986	A
CFAP99	402160	genome.wustl.edu	37	4	2451713	2451713	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr4:2451713C>A	ENST00000506607.1	+	1	14	c.11C>A	c.(10-12)tCc>tAc	p.S4Y																								ATGCCCAGGTCCTGCAGGGAG	0.612																																																	0																																										SO:0001583	missense	0																														ENST00000506607.1:c.11C>A	4.37:g.2451713C>A	ENSP00000425050:p.Ser4Tyr			Missense_Mutation	SNP	NULL	p.S4Y	ENST00000506607.1	37	c.11		4	.	.	.	.	.	.	.	.	.	.	C	7.542	0.660795	0.14645	.	.	ENSG00000249428	ENST00000506607	.	.	.	3.34	1.5	0.22942	.	.	.	.	.	T	0.17874	0.0429	N	0.08118	0	.	.	.	.	.	.	.	.	.	T	0.19778	-1.0295	5	0.44086	T	0.13	.	4.0698	0.09877	0.0:0.611:0.2468:0.1422	.	.	.	.	Y	4	.	ENSP00000425050:S4Y	S	+	2	0	RP11-503N18.3	2421511	0.000000	0.05858	0.004000	0.12327	0.105000	0.19272	0.196000	0.17176	0.392000	0.25172	0.555000	0.69702	TCC	RP11-503N18.3	-	NULL	ENSG00000249428		0.612	RP11-503N18.3-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	ENSG00000249428	Clone_based_vega_gene	protein_coding	OTTHUMT00000360915.3	-	0.00	94	0	C			2451713	+1	tier1	-	no_errors	ENST00000506607	ensembl	human	putative	74_37	missense	8.33	44	4	SNP	0.003	A
RP11-184E9.1	0	genome.wustl.edu	37	5	25190700	25190700	+	lincRNA	SNP	G	G	A	rs575669951		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr5:25190700G>A	ENST00000502100.2	+	0	0				RP11-549K20.1_ENST00000507600.1_lincRNA																							TCCCTAGGCCGCCTTCCGGGC	0.721																																																	0																																												0																															5.37:g.25190700G>A				RNA	SNP	-	NULL	ENST00000502100.2	37	NULL		5																																																																																			RP11-549K20.1	-	-	ENSG00000251273		0.721	RP11-184E9.1-001	KNOWN	basic	lincRNA	ENSG00000251273	Clone_based_vega_gene	lincRNA	OTTHUMT00000366522.1	-	0.00	34	0	G			25190700	-1	tier1	-	no_errors	ENST00000507600	ensembl	human	known	74_37	rna	21.43	22	6	SNP	0.013	A
PCDHB17	54661	genome.wustl.edu	37	5	140537168	140537168	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr5:140537168G>A	ENST00000539533.1	+	1	1592	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H						protocadherin beta 17 pseudogene																		TTCGAGTTCCGCGTGGGCGCC	0.657																																																	0																																										SO:0001583	missense	0			AF152527		5q31	2010-01-26				ENSG00000255622		"""Cadherins / Protocadherins : Clustered"""	14547	pseudogene	pseudogene						10380929	Standard	NR_001280		Approved	PCDH-psi1	uc003lis.3			ENST00000539533.1:c.1592G>A	5.37:g.140537168G>A	ENSP00000438685:p.Arg531His			Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R531H	ENST00000539533.1	37	c.1592		5	.	.	.	.	.	.	.	.	.	.	G	6.371	0.436493	0.12104	.	.	ENSG00000255622	ENST00000539533	T	0.51817	0.69	4.78	0.661	0.17874	.	.	.	.	.	T	0.26122	0.0637	.	.	.	.	.	.	B	0.28470	0.213	B	0.20184	0.028	T	0.23084	-1.0198	7	0.23891	T	0.37	.	4.9122	0.13827	0.3906:0.2486:0.3608:0.0	.	531	Q96T98	.	H	531	ENSP00000438685:R531H	ENSP00000438685:R531H	R	+	2	0	AC005754.1	140517352	0.000000	0.05858	0.330000	0.25442	0.856000	0.48823	-2.226000	0.01211	0.536000	0.28733	0.556000	0.70494	CGC	PCDHB17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000255622		0.657	PCDHB17-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000255622	Uniprot_gn	protein_coding		-	0.00	251	0	G			140537168	+1	tier1	-	no_errors	ENST00000539533	ensembl	human	known	74_37	missense	5.30	125	7	SNP	0.001	A
EPB41L3	23136	genome.wustl.edu	37	18	5428401	5428401	+	Silent	SNP	G	G	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr18:5428401G>T	ENST00000341928.2	-	9	1316	c.976C>A	c.(976-978)Cgg>Agg	p.R326R	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Silent_p.R326R|EPB41L3_ENST00000342933.3_Silent_p.R326R|EPB41L3_ENST00000540638.2_Silent_p.R326R|EPB41L3_ENST00000400111.3_Silent_p.R326R	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	326	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.R326R(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ATTCGCAGCCGGTCGCGATAT	0.418																																																	1	Substitution - coding silent(1)	lung(1)											140.0	144.0	143.0					18																	5428401		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.976C>A	18.37:g.5428401G>T			B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.R326	ENST00000341928.2	37	c.976	CCDS11838.1	18																																																																																			EPB41L3	-	pirsf_Band_41_protein,pfam_FERM_PH-like_C,pfscan_FERM_domain	ENSG00000082397		0.418	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1		0.00	67	0	G	NM_012307		5428401	-1			no_errors	ENST00000341928	ensembl	human	known	74_37	silent	7.89	35	3	SNP	1.000	T
ERV3-1	2086	genome.wustl.edu	37	7	64452476	64452476	+	Missense_Mutation	SNP	T	T	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr7:64452476T>A	ENST00000394323.2	-	2	1429	c.929A>T	c.(928-930)gAa>gTa	p.E310V	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	310						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						gggcattagttcccttgcttc	0.483																																																	0													119.0	115.0	116.0					7																	64452476		1939	4137	6076	SO:0001583	missense	0			AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"""endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)"", ""endogenous retroviral sequence 3"""	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.929A>T	7.37:g.64452476T>A	ENSP00000391594:p.Glu310Val			Missense_Mutation	SNP	NULL	p.E310V	ENST00000394323.2	37	c.929	CCDS47595.1	7	.	.	.	.	.	.	.	.	.	.	.	11.49	1.653623	0.29425	.	.	ENSG00000213462	ENST00000394323	T	0.17528	2.27	0.109	0.109	0.14578	.	.	.	.	.	T	0.17238	0.0414	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	D	0.68483	0.958	T	0.19679	-1.0298	8	0.59425	D	0.04	.	.	.	.	.	310	Q14264	ENR1_HUMAN	V	310	ENSP00000391594:E310V	ENSP00000391594:E310V	E	-	2	0	ERV3-1	64089911	0.174000	0.23070	0.132000	0.22025	0.135000	0.20990	0.198000	0.17217	0.156000	0.19299	0.155000	0.16302	GAA	ERV3-1	-	NULL	ENSG00000213462		0.483	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERV3-1	HGNC	protein_coding	OTTHUMT00000381468.1	-	0.00	107	0	T	NM_001007253		64452476	-1	tier1	-	no_errors	ENST00000394323	ensembl	human	known	74_37	missense	17.19	53	11	SNP	0.158	A
EYS	346007	genome.wustl.edu	37	6	65146103	65146103	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr6:65146103C>T	ENST00000370621.3	-	28	6417	c.5891G>A	c.(5890-5892)aGa>aAa	p.R1964K	EYS_ENST00000370616.2_Missense_Mutation_p.R1964K|EYS_ENST00000503581.1_Missense_Mutation_p.R1964K			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1964	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTTGTCCACTCTAACAGTAGT	0.343																																																	0													207.0	163.0	176.0					6																	65146103		692	1589	2281	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.5891G>A	6.37:g.65146103C>T	ENSP00000359655:p.Arg1964Lys		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.R1964K	ENST00000370621.3	37	c.5891		6	.	.	.	.	.	.	.	.	.	.	C	10.29	1.309896	0.23821	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	T;T;T	0.76839	-1.05;-1.05;-1.05	5.34	2.33	0.28932	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.30355	0.0762	N	0.08118	0	0.80722	D	1	B;B	0.19583	0.037;0.011	B;B	0.19148	0.024;0.022	T	0.22277	-1.0221	9	0.06891	T	0.86	.	8.2566	0.31760	0.0:0.8191:0.0:0.1809	.	1964;1964	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	K	1964	ENSP00000424243:R1964K;ENSP00000359655:R1964K;ENSP00000359650:R1964K	ENSP00000359650:R1964K	R	-	2	0	EYS	65202824	0.999000	0.42202	0.012000	0.15200	0.007000	0.05969	1.840000	0.39230	0.155000	0.19261	0.655000	0.94253	AGA	EYS	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000188107		0.343	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0.00	71	0	C	XM_294050		65146103	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	18.18	36	8	SNP	0.926	T
EYS	346007	genome.wustl.edu	37	6	66200582	66200582	+	Missense_Mutation	SNP	A	A	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr6:66200582A>T	ENST00000370621.3	-	5	1293	c.767T>A	c.(766-768)aTa>aAa	p.I256K	EYS_ENST00000370616.2_Missense_Mutation_p.I256K|EYS_ENST00000370618.3_Missense_Mutation_p.I256K|EYS_ENST00000342421.5_Missense_Mutation_p.I256K|EYS_ENST00000503581.1_Missense_Mutation_p.I256K|EYS_ENST00000393380.2_Missense_Mutation_p.I256K			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	256	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTGGCCAATTATTTCTGAGCA	0.299																																																	0													65.0	61.0	62.0					6																	66200582		2203	4296	6499	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.767T>A	6.37:g.66200582A>T	ENSP00000359655:p.Ile256Lys		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.I256K	ENST00000370621.3	37	c.767		6	.	.	.	.	.	.	.	.	.	.	A	3.317	-0.139567	0.06669	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	4.4	4.4	0.53042	.	.	.	.	.	D	0.83949	0.5365	L	0.27053	0.805	0.43279	D	0.995246	D;D;D	0.67145	0.979;0.996;0.994	P;D;P	0.65573	0.858;0.936;0.865	T	0.81743	-0.0793	9	0.17369	T	0.5	.	11.3301	0.49470	1.0:0.0:0.0:0.0	.	256;256;256	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	K	256	ENSP00000424243:I256K;ENSP00000359655:I256K;ENSP00000359650:I256K;ENSP00000377042:I256K;ENSP00000341818:I256K;ENSP00000359652:I256K	ENSP00000341818:I256K	I	-	2	0	EYS	66257303	1.000000	0.71417	0.963000	0.40424	0.662000	0.39071	3.446000	0.52928	1.756000	0.51951	0.455000	0.32223	ATA	EYS	-	pfscan_EG-like_dom	ENSG00000188107		0.299	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0.00	74	0	A	XM_294050		66200582	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	17.39	38	8	SNP	1.000	T
FAM160A2	84067	genome.wustl.edu	37	11	6239886	6239886	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr11:6239886C>G	ENST00000449352.2	-	8	1642	c.1379G>C	c.(1378-1380)tGt>tCt	p.C460S	FAM160A2_ENST00000524416.1_Missense_Mutation_p.C460S|FAM160A2_ENST00000265978.4_Missense_Mutation_p.C460S			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	460					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTGCCGACAACAGCGTGGGAT	0.587																																																	0													172.0	139.0	150.0					11																	6239886		2201	4296	6497	SO:0001583	missense	0				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1379G>C	11.37:g.6239886C>G	ENSP00000416918:p.Cys460Ser		Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.C460S	ENST00000449352.2	37	c.1379	CCDS44530.1	11	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678487	0.68042	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.19532	2.77;2.76;2.14	5.5	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.35480	0.0933	M	0.79475	2.455	0.52501	D	0.999958	B;B;P	0.50272	0.37;0.327;0.933	B;B;P	0.49047	0.12;0.084;0.599	T	0.30679	-0.9970	10	0.56958	D	0.05	-26.5933	13.6295	0.62188	0.0:0.9262:0.0:0.0738	.	460;460;460	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	S	460;385;460;460	ENSP00000416918:C460S;ENSP00000265978:C460S;ENSP00000431773:C460S	ENSP00000265978:C460S	C	-	2	0	FAM160A2	6196462	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.440000	0.80464	1.551000	0.49450	0.650000	0.86243	TGT	FAM160A2	-	NULL	ENSG00000051009		0.587	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	HGNC	protein_coding	OTTHUMT00000383759.1		0.00	64	0	C	NM_032127		6239886	-1			no_errors	ENST00000265978	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	G
FAM83E	54854	genome.wustl.edu	37	19	49113245	49113245	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr19:49113245G>A	ENST00000263266.3	-	3	835	c.646C>T	c.(646-648)Cgt>Tgt	p.R216C		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	216										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CGCACGACACGGACATCCACG	0.637																																																	0													25.0	30.0	28.0					19																	49113245		2139	4235	6374	SO:0001583	missense	0			AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.646C>T	19.37:g.49113245G>A	ENSP00000263266:p.Arg216Cys		Q9NXK1	Missense_Mutation	SNP	pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase	p.R216C	ENST00000263266.3	37	c.646	CCDS42587.1	19	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342079	0.41498	.	.	ENSG00000105523	ENST00000263266	T	0.23950	1.88	4.66	4.66	0.58398	.	0.000000	0.64402	D	0.000001	T	0.57315	0.2045	M	0.90309	3.105	0.48236	D	0.99961	D	0.89917	1.0	D	0.91635	0.999	T	0.66622	-0.5877	10	0.87932	D	0	-8.8118	13.4348	0.61077	0.0:0.0:1.0:0.0	.	216	Q2M2I3	FA83E_HUMAN	C	216	ENSP00000263266:R216C	ENSP00000263266:R216C	R	-	1	0	FAM83E	53805057	1.000000	0.71417	0.979000	0.43373	0.056000	0.15407	4.275000	0.58927	2.345000	0.79718	0.555000	0.69702	CGT	FAM83E	-	pfam_DUF1669	ENSG00000105523		0.637	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83E	HGNC	protein_coding	OTTHUMT00000466145.1	-	0.00	81	0	G	NM_017708		49113245	-1	tier1	-	no_errors	ENST00000263266	ensembl	human	known	74_37	missense	32.08	36	17	SNP	0.970	A
FGF14	2259	genome.wustl.edu	37	13	102379101	102379101	+	Missense_Mutation	SNP	G	G	C	rs558694053	byFrequency	TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr13:102379101G>C	ENST00000376143.4	-	4	467	c.468C>G	c.(466-468)atC>atG	p.I156M	FGF14_ENST00000376131.4_Missense_Mutation_p.I161M	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	156					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGGATGAGTAGATTACATAAT	0.353																																																	0													82.0	79.0	80.0					13																	102379101		2203	4300	6503	SO:0001583	missense	0				CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.468C>G	13.37:g.102379101G>C	ENSP00000365313:p.Ile156Met		Q86YN7|Q96QX6	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.I161M	ENST00000376143.4	37	c.483	CCDS9501.1	13	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189700	0.57909	.	.	ENSG00000102466	ENST00000376131;ENST00000376143	D;D	0.81659	-1.52;-1.52	5.86	5.86	0.93980	.	0.147975	0.64402	D	0.000010	D	0.82889	0.5135	L	0.60455	1.87	0.80722	D	1	P;B	0.36412	0.552;0.211	P;B	0.45167	0.472;0.416	D	0.83433	0.0039	10	0.66056	D	0.02	.	15.3424	0.74309	0.0687:0.0:0.9313:0.0	.	161;156	Q92915-2;Q92915	.;FGF14_HUMAN	M	161;156	ENSP00000365301:I161M;ENSP00000365313:I156M	ENSP00000365301:I161M	I	-	3	3	FGF14	101177102	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.422000	0.73357	2.786000	0.95864	0.591000	0.81541	ATC	FGF14	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	ENSG00000102466		0.353	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF14	HGNC	protein_coding	OTTHUMT00000045679.2	-	0.00	78	0	G			102379101	-1	tier1	-	no_errors	ENST00000376131	ensembl	human	known	74_37	missense	25.86	43	15	SNP	1.000	C
FMN1	342184	genome.wustl.edu	37	15	33066543	33066543	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr15:33066543G>A	ENST00000559047.1	-	18	4227	c.4228C>T	c.(4228-4230)Cgt>Tgt	p.R1410C	FMN1_ENST00000334528.9_Missense_Mutation_p.R1187C|FMN1_ENST00000561249.1_Missense_Mutation_p.R1312C			Q68DA7	FMN1_HUMAN	formin 1	1410					actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCCTTCTGACGCAGTCTTTCT	0.388																																																	0													117.0	111.0	113.0					15																	33066543		1955	4150	6105	SO:0001583	missense	0			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.4228C>T	15.37:g.33066543G>A	ENSP00000454047:p.Arg1410Cys		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam	p.R1187C	ENST00000559047.1	37	c.3559		15	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434650	0.62955	.	.	ENSG00000248905	ENST00000334528	T	0.47869	0.83	5.23	5.23	0.72850	.	0.056282	0.64402	D	0.000001	T	0.33990	0.0882	N	0.24115	0.695	.	.	.	P	0.49358	0.923	B	0.38020	0.263	T	0.52668	-0.8545	9	0.56958	D	0.05	.	15.8328	0.78769	0.0:0.0:1.0:0.0	.	1187	Q68DA7-5	.	C	1187	ENSP00000333950:R1187C	ENSP00000333950:R1187C	R	-	1	0	FMN1	30853835	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.670000	0.61583	2.710000	0.92621	0.650000	0.86243	CGT	FMN1	-	prints_Formin_Cappuccino_subfam	ENSG00000248905		0.388	FMN1-005	NOVEL	basic|exp_conf	protein_coding	FMN1	HGNC	protein_coding	OTTHUMT00000417414.1	-	0.00	96	0	G	NM_001103184		33066543	-1	tier1	-	no_errors	ENST00000334528	ensembl	human	known	74_37	missense	27.27	24	9	SNP	1.000	A
GABPB1	2553	genome.wustl.edu	37	15	50596184	50596184	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr15:50596184G>T	ENST00000220429.8	-	3	423	c.255C>A	c.(253-255)agC>agA	p.S85R	GABPB1_ENST00000396464.3_Missense_Mutation_p.S85R|GABPB1_ENST00000543881.1_Missense_Mutation_p.S9R|GABPB1_ENST00000380877.3_Missense_Mutation_p.S85R|GABPB1_ENST00000359031.4_Missense_Mutation_p.S85R|GABPB1_ENST00000429662.2_Missense_Mutation_p.S85R|GABPB1_ENST00000560825.1_Missense_Mutation_p.S85R			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	85					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						CCTCTACTATGCTGGCATGGC	0.433																																																	0													181.0	146.0	157.0					15																	50596184		2196	4295	6491	SO:0001583	missense	0			D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"""Ankyrin repeat domain containing"""	4074	protein-coding gene	gene with protein product		600610	"""GA binding protein transcription factor, beta subunit 2"""	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.255C>A	15.37:g.50596184G>T	ENSP00000220429:p.Ser85Arg		A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S85R	ENST00000220429.8	37	c.255	CCDS32239.1	15	.	.	.	.	.	.	.	.	.	.	G	11.77	1.738660	0.30774	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000543881;ENST00000396464;ENST00000429662;ENST00000359031	T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.45	2.47	0.30058	Ankyrin repeat-containing domain (3);	0.194805	0.53938	N	0.000045	T	0.46678	0.1405	L	0.35414	1.06	0.39045	D	0.960204	B;B;B;B;B	0.20887	0.0;0.0;0.0;0.049;0.001	B;B;B;B;B	0.22753	0.001;0.001;0.0;0.041;0.001	T	0.30387	-0.9980	10	0.32370	T	0.25	-0.134	7.9843	0.30202	0.0654:0.1171:0.6959:0.1215	.	85;85;85;85;85	B7Z726;Q06547-3;Q06547-4;Q06547;Q06547-2	.;.;.;GABP1_HUMAN;.	R	85;85;9;85;85;85	ENSP00000220429:S85R;ENSP00000370259:S85R;ENSP00000442500:S9R;ENSP00000379728:S85R;ENSP00000395771:S85R;ENSP00000351923:S85R	ENSP00000220429:S85R	S	-	3	2	GABPB1	48383476	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.398000	0.52579	0.328000	0.23435	0.563000	0.77884	AGC	GABPB1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000104064		0.433	GABPB1-005	KNOWN	basic|CCDS	protein_coding	GABPB1	HGNC	protein_coding	OTTHUMT00000418294.1		0.00	80	0	G			50596184	-1			no_errors	ENST00000220429	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	T
GBP1	2633	genome.wustl.edu	37	1	89523677	89523677	+	Missense_Mutation	SNP	G	G	T	rs571054459		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:89523677G>T	ENST00000370473.4	-	6	1091	c.872C>A	c.(871-873)cCt>cAt	p.P291H	GBP1_ENST00000484970.1_5'Flank	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	291	GTPase domain (Globular).				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GGACTTACGAGGCCCGTTGAC	0.428																																																	0													96.0	99.0	98.0					1																	89523677		2203	4300	6503	SO:0001583	missense	0			BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.872C>A	1.37:g.89523677G>T	ENSP00000359504:p.Pro291His		D3DT26|Q5T8M1	Missense_Mutation	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.P291H	ENST00000370473.4	37	c.872	CCDS718.1	1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393402	0.42410	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.56103	0.48	4.48	4.48	0.54585	Guanylate-binding protein, C-terminal (3);	0.588358	0.17749	N	0.163285	T	0.64843	0.2635	M	0.88704	2.975	0.27742	N	0.944436	D	0.67145	0.996	D	0.63488	0.915	T	0.61108	-0.7129	10	0.45353	T	0.12	.	12.6463	0.56735	0.0:0.0:1.0:0.0	.	291	P32455	GBP1_HUMAN	H	291;254	ENSP00000359504:P291H	ENSP00000359504:P291H	P	-	2	0	GBP1	89296265	0.004000	0.15560	0.990000	0.47175	0.373000	0.29922	1.047000	0.30367	2.029000	0.59856	0.313000	0.20887	CCT	GBP1	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	ENSG00000117228		0.428	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP1	HGNC	protein_coding	OTTHUMT00000029289.3		0.00	52	0	G	NM_002053		89523677	-1			no_errors	ENST00000370473	ensembl	human	known	74_37	missense	9.09	30	3	SNP	0.876	T
GDF3	9573	genome.wustl.edu	37	12	7842645	7842645	+	Silent	SNP	G	G	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr12:7842645G>A	ENST00000329913.3	-	2	971	c.924C>T	c.(922-924)tcC>tcT	p.S308S		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	308					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AAGCATAATTGGAGCTGTTGA	0.532																																																	0													122.0	110.0	114.0					12																	7842645		2203	4300	6503	SO:0001819	synonymous_variant	0			AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.924C>T	12.37:g.7842645G>A			Q8NEJ4	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.S308	ENST00000329913.3	37	c.924	CCDS8581.1	12																																																																																			GDF3	-	pfam_TGF-b_C,smart_TGF-b_C	ENSG00000184344		0.532	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF3	HGNC	protein_coding	OTTHUMT00000399717.1	-	0.00	75	0	G			7842645	-1	tier1	-	no_errors	ENST00000329913	ensembl	human	known	74_37	silent	12.77	41	6	SNP	1.000	A
GH2	2689	genome.wustl.edu	37	17	61958788	61958788	+	Silent	SNP	C	C	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr17:61958788C>T	ENST00000423893.2	-	2	163	c.102G>A	c.(100-102)agG>agA	p.R34R	GH2_ENST00000456543.2_Silent_p.R34R|GH2_ENST00000332800.7_Silent_p.R34R|GH2_ENST00000449787.2_Silent_p.R34R			P01242	SOM2_HUMAN	growth hormone 2	34					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TGTCAAAAAGCCTGGATAAGG	0.577																																																	0													146.0	157.0	153.0					17																	61958788		2203	4300	6503	SO:0001819	synonymous_variant	0			J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.102G>A	17.37:g.61958788C>T			B1A4H5|B1A4H7|O14643|O14644|P09587	Silent	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.R34	ENST00000423893.2	37	c.102	CCDS11647.1	17																																																																																			GH2	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core	ENSG00000136487		0.577	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GH2	HGNC	protein_coding	OTTHUMT00000417665.1	-	0.00	86	0	C	NM_002059		61958788	-1	tier1	-	no_errors	ENST00000332800	ensembl	human	known	74_37	silent	12.50	35	5	SNP	1.000	T
GJE1	100126572	genome.wustl.edu	37	6	142455065	142455065	+	Missense_Mutation	SNP	G	G	C			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr6:142455065G>C	ENST00000450456.2	+	2	187	c.118G>C	c.(118-120)Ggc>Cgc	p.G40R				Q8NFK1	CXG3_HUMAN	gap junction protein, epsilon 1, 23kDa	40					cell communication (GO:0007154)|myelination (GO:0042552)|sensory perception of sound (GO:0007605)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)											CGGGGTGCTAGGCTTTGCAGT	0.433																																																	0																																										SO:0001583	missense	0					6q24.1	2013-01-16			ENSG00000203733	ENSG00000203733		"""Ion channels / Gap junction proteins (connexins)"""	33251	other	unknown						18849090	Standard	NG_033968		Approved	CX23		A6NN92	OTTHUMG00000015706	ENST00000450456.2:c.118G>C	6.37:g.142455065G>C	ENSP00000455469:p.Gly40Arg		A4D296|Q86XI9	Missense_Mutation	SNP	pfam_Connexin_CCC,pfam_Connexin_N	p.G40R	ENST00000450456.2	37	c.118		6																																																																																			GJE1	-	pfam_Connexin_N	ENSG00000203733		0.433	GJE1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	GJE1	HGNC	protein_coding	OTTHUMT00000042482.2	-	0.00	148	0	G			142455065	+1	tier1	-	no_errors	ENST00000450456	ensembl	human	known	74_37	missense	24.10	63	20	SNP	1.000	C
GPR126	57211	genome.wustl.edu	37	6	142723827	142723827	+	Silent	SNP	T	T	C			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr6:142723827T>C	ENST00000230173.6	+	13	2291	c.1815T>C	c.(1813-1815)aaT>aaC	p.N605N	GPR126_ENST00000367608.2_Silent_p.N577N|GPR126_ENST00000296932.8_Silent_p.N577N|GPR126_ENST00000367609.3_Silent_p.N605N	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	605					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CCTCAGCCAATATTACCAACA	0.318																																																	0													60.0	57.0	58.0					6																	142723827		1823	4082	5905	SO:0001819	synonymous_variant	0			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.1815T>C	6.37:g.142723827T>C			Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.N605	ENST00000230173.6	37	c.1815	CCDS47490.1	6																																																																																			GPR126	-	NULL	ENSG00000112414		0.318	GPR126-001	KNOWN	basic|CCDS	protein_coding	GPR126	HGNC	protein_coding	OTTHUMT00000042487.2	-	0.00	41	0	T			142723827	+1	tier1	-	no_errors	ENST00000367609	ensembl	human	known	74_37	silent	26.92	19	7	SNP	0.998	C
GRAMD1B	57476	genome.wustl.edu	37	11	123480536	123480536	+	Missense_Mutation	SNP	A	A	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr11:123480536A>T	ENST00000529750.1	+	12	1589	c.1262A>T	c.(1261-1263)aAt>aTt	p.N421I	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.N421I|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.N428I|GRAMD1B_ENST00000450171.2_Missense_Mutation_p.N112I	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	421						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		AAGGAGGAGAATGGAAACCAG	0.537																																																	0													61.0	63.0	62.0					11																	123480536		1934	4141	6075	SO:0001583	missense	0			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1262A>T	11.37:g.123480536A>T	ENSP00000436500:p.Asn421Ile		Q6UW85|Q9ULL9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.N421I	ENST00000529750.1	37	c.1262	CCDS53720.1	11	.	.	.	.	.	.	.	.	.	.	A	13.68	2.310203	0.40895	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764;ENST00000450171	T;T;T;T;T;T	0.47869	1.84;1.84;1.84;1.84;1.44;0.83	5.7	4.59	0.56863	.	0.260142	0.44483	D	0.000456	T	0.38453	0.1041	L	0.52573	1.65	0.19575	N	0.999961	B;B;B;B;B	0.32526	0.046;0.257;0.374;0.047;0.073	B;B;B;B;B	0.30495	0.027;0.087;0.116;0.014;0.025	T	0.36187	-0.9758	10	0.46703	T	0.11	.	7.7663	0.28982	0.7875:0.1406:0.072:0.0	.	381;428;112;421;428	B7Z4N9;F5H572;Q3KR37-3;Q3KR37;E7EPH8	.;.;.;GRM1B_HUMAN;.	I	428;428;421;421;381;417;112	ENSP00000402457:N428I;ENSP00000325628:N421I;ENSP00000436500:N421I;ENSP00000432987:N381I;ENSP00000434214:N417I;ENSP00000388458:N112I	ENSP00000325628:N421I	N	+	2	0	GRAMD1B	122985746	0.440000	0.25618	0.996000	0.52242	0.958000	0.62258	1.213000	0.32407	2.172000	0.68678	0.533000	0.62120	AAT	GRAMD1B	-	NULL	ENSG00000023171		0.537	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRAMD1B	HGNC	protein_coding	OTTHUMT00000387404.2	-	0.00	98	0	A	XM_370660		123480536	+1	tier1	-	no_errors	ENST00000322282	ensembl	human	known	74_37	missense	18.60	35	8	SNP	0.282	T
GUCY2D	3000	genome.wustl.edu	37	17	7919550	7919550	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr17:7919550C>A	ENST00000254854.4	+	18	3316	c.3166C>A	c.(3166-3168)Cta>Ata	p.L1056I		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	1056					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				CACTTTCTGGCTAGTGGGCAG	0.682																																																	0													33.0	31.0	32.0					17																	7919550		2202	4297	6499	SO:0001583	missense	0			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.3166C>A	17.37:g.7919550C>A	ENSP00000254854:p.Leu1056Ile		Q6LEA7	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L1056I	ENST00000254854.4	37	c.3166	CCDS11127.1	17	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372792	0.82573	.	.	ENSG00000132518	ENST00000254854	D	0.83250	-1.7	5.17	4.2	0.49525	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.37857	N	0.001904	D	0.89298	0.6675	M	0.69185	2.1	0.35496	D	0.799354	D	0.89917	1.0	D	0.97110	1.0	D	0.92595	0.6086	10	0.72032	D	0.01	.	12.9363	0.58316	0.0:0.9191:0.0:0.0809	.	1056	Q02846	GUC2D_HUMAN	I	1056	ENSP00000254854:L1056I	ENSP00000254854:L1056I	L	+	1	2	GUCY2D	7860275	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.260000	0.58835	1.173000	0.42796	0.462000	0.41574	CTA	GUCY2D	-	pfam_A/G_cyclase,superfamily_A/G_cyclase	ENSG00000132518		0.682	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2D	HGNC	protein_coding	OTTHUMT00000226973.2	-	0.00	96	0	C			7919550	+1	tier1	-	no_errors	ENST00000254854	ensembl	human	known	74_37	missense	21.31	48	13	SNP	1.000	A
H3F3B	3021	genome.wustl.edu	37	17	73774199	73774200	+	3'UTR	INS	-	-	T	rs535901088		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr17:73774199_73774200insT	ENST00000254810.4	-	0	1019_1020				H3F3B_ENST00000593254.1_5'UTR	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)						blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCAGGTTTACTTTTTTTTTTT	0.292																																																	0																																										SO:0001624	3_prime_UTR_variant	0			Z48950	CCDS11729.1	17q25.1	2011-06-01			ENSG00000132475	ENSG00000132475		"""Histones / Replication-independent"""	4765	protein-coding gene	gene with protein product		601058				8586426	Standard	NM_005324		Approved	H3.3B	uc002jpl.3	P84243		ENST00000254810.4:c.*477->A	17.37:g.73774210_73774210dupT			P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	RNA	INS	-	NULL	ENST00000254810.4	37	NULL	CCDS11729.1	17																																																																																			H3F3B	-	-	ENSG00000132475		0.292	H3F3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H3F3B	HGNC	protein_coding	OTTHUMT00000448499.1		0.00	43	0	-	NM_005324		73774200	-1	tier1		no_errors	ENST00000593254	ensembl	human	known	74_37	rna	15.15	28	5	INS	0.995:1.000	T
HCFC1	3054	genome.wustl.edu	37	X	153220290	153220290	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chrX:153220290C>A	ENST00000310441.7	-	17	4526	c.3560G>T	c.(3559-3561)tGc>tTc	p.C1187F	HCFC1_ENST00000369984.4_Missense_Mutation_p.C1187F|HCFC1_ENST00000354233.3_Missense_Mutation_p.C1118F	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1187					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|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)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCGGCCGAGCACGGGGCCCC	0.701																																																	0													4.0	6.0	6.0					X																	153220290		1761	3729	5490	SO:0001583	missense	0				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.3560G>T	X.37:g.153220290C>A	ENSP00000309555:p.Cys1187Phe		Q6P4G5	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.C1187F	ENST00000310441.7	37	c.3560	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	c	4.275	0.050226	0.08243	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03635	3.87;3.89;3.86	4.53	2.75	0.32379	.	0.835233	0.10885	N	0.623323	T	0.02727	0.0082	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.46721	-0.9171	10	0.41790	T	0.15	.	7.6633	0.28415	0.0:0.7058:0.0:0.2942	.	1187	P51610	HCFC1_HUMAN	F	1187;1187;1118	ENSP00000309555:C1187F;ENSP00000359001:C1187F;ENSP00000346174:C1118F	ENSP00000309555:C1187F	C	-	2	0	HCFC1	152873484	0.000000	0.05858	0.002000	0.10522	0.158000	0.22134	0.275000	0.18698	0.230000	0.21059	0.525000	0.51046	TGC	HCFC1	-	NULL	ENSG00000172534		0.701	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	-	0.00	13	0	C	NM_005334		153220290	-1	tier1	-	no_errors	ENST00000310441	ensembl	human	known	74_37	missense	28.57	10	4	SNP	0.058	A
HEATR5A	25938	genome.wustl.edu	37	14	31774121	31774121	+	Missense_Mutation	SNP	G	G	C			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr14:31774121G>C	ENST00000389961.3	-	31	5210	c.5211C>G	c.(5209-5211)tgC>tgG	p.C1737W	HEATR5A_ENST00000439348.1_Missense_Mutation_p.C1737W|HEATR5A_ENST00000439727.1_Missense_Mutation_p.C1450W|HEATR5A_ENST00000543095.2_Missense_Mutation_p.C1743W|RP11-596D21.1_ENST00000551799.1_RNA			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1737										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CTTCAGGAGAGCACACTGCAG	0.403																																																	0													108.0	102.0	104.0					14																	31774121		1978	4180	6158	SO:0001583	missense	0			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.5211C>G	14.37:g.31774121G>C	ENSP00000374611:p.Cys1737Trp		Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.C1737W	ENST00000389961.3	37	c.5211		14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.44|17.44	3.391173|3.391173	0.62066|0.62066	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000538864|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095	.|T;T;T;T	.|0.68624	.|-0.16;-0.34;-0.16;-0.16	6.08|6.08	4.25|4.25	0.50352|0.50352	.|.	.|0.090061	.|0.85682	.|D	.|0.000000	T|T	0.80529|0.80529	0.4640|0.4640	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|D	.|0.64830	.|0.994	.|D	.|0.71414	.|0.973	D|D	0.83443|0.83443	0.0044|0.0044	5|10	.|0.87932	.|D	.|0	.|.	13.275|13.275	0.60182|0.60182	0.1298:0.0:0.8702:0.0|0.1298:0.0:0.8702:0.0	.|.	.|1737	.|Q86XA9-2	.|.	G|W	1371|1737;1737;1450;1743	.|ENSP00000374611:C1737W;ENSP00000405407:C1737W;ENSP00000408681:C1450W;ENSP00000437968:C1743W	.|ENSP00000374611:C1737W	A|C	-|-	2|3	0|2	HEATR5A|HEATR5A	30843872|30843872	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.555000|2.555000	0.45854|0.45854	1.594000|1.594000	0.50039|0.50039	0.655000|0.655000	0.94253|0.94253	GCT|TGC	HEATR5A	-	superfamily_ARM-type_fold	ENSG00000129493		0.403	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding		-	0.00	43	0	G	NM_015473		31774121	-1	tier1	-	no_errors	ENST00000389961	ensembl	human	known	74_37	missense	22.58	24	7	SNP	1.000	C
HIST1H3B	8358	genome.wustl.edu	37	6	26031995	26031995	+	Silent	SNP	C	C	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr6:26031995C>T	ENST00000244661.2	-	1	293	c.294G>A	c.(292-294)gaG>gaA	p.E98E		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	98					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CCAAGTAGGCCTCACAAGCCT	0.567																																																	0													73.0	73.0	73.0					6																	26031995		2203	4300	6503	SO:0001819	synonymous_variant	0			X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.294G>A	6.37:g.26031995C>T			A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E98	ENST00000244661.2	37	c.294	CCDS4573.1	6																																																																																			HIST1H3B	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000124693		0.567	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3B	HGNC	protein_coding	OTTHUMT00000040077.1	-	0.00	120	0	C	NM_003537		26031995	-1	tier1	-	no_errors	ENST00000244661	ensembl	human	known	74_37	silent	7.89	70	6	SNP	1.000	T
ZNRD1-AS1	80862	genome.wustl.edu	37	6	29974769	29974769	+	RNA	SNP	T	T	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr6:29974769T>A	ENST00000376797.3	-	0	1346				ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		CTACAGACACTGGGCGCCAAG	0.677																																																	0																																												0			AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29974769T>A				RNA	SNP	-	NULL	ENST00000376797.3	37	NULL		6																																																																																			HLA-J	-	-	ENSG00000204622		0.677	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	HLA-J	HGNC	antisense	OTTHUMT00000253083.1	-	0.00	156	0	T	NR_026751		29974769	+1	tier1	-	no_errors	ENST00000462773	ensembl	human	known	74_37	rna	32.43	50	24	SNP	0.000	A
HNRNPU	3192	genome.wustl.edu	37	1	245025801	245025803	+	In_Frame_Del	DEL	TCT	TCT	-	rs538951206		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:245025801_245025803delTCT	ENST00000283179.9	-	3	1000_1002	c.837_839delAGA	c.(835-840)gaagat>gat	p.E279del	HNRNPU_ENST00000444376.2_In_Frame_Del_p.E260del|RP11-11N7.4_ENST00000610145.1_lincRNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	279	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			GAAGTGTTCATCTTCTTCTTCAA	0.394																																					NSCLC(33;911 1010 3329 23631 49995)												0																																										SO:0001651	inframe_deletion	0			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.837_839delAGA	1.37:g.245025807_245025809delTCT	ENSP00000283179:p.Glu279del		O75507|Q8N174|Q96HY9|Q9BQ09	In_Frame_Del	DEL	pfam_SPRY_rcpt,pfam_SAP_dom,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom	p.E279in_frame_del	ENST00000283179.9	37	c.839_837	CCDS41479.1	1																																																																																			HNRNPU	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY	ENSG00000153187		0.394	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPU	HGNC	protein_coding	OTTHUMT00000097163.3		0.00	128	0	TCT	NM_031844		245025803	-1	tier1		no_errors	ENST00000283179	ensembl	human	known	74_37	in_frame_del	15.48	71	13	DEL	1.000:1.000:1.000	-
HSPB7	27129	genome.wustl.edu	37	1	16342202	16342202	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:16342202G>A	ENST00000311890.9	-	3	1212	c.386C>T	c.(385-387)cCg>cTg	p.P129L	HSPB7_ENST00000375718.4_Missense_Mutation_p.P204L|HSPB7_ENST00000487046.1_Missense_Mutation_p.P134L|HSPB7_ENST00000411503.1_Missense_Mutation_p.P124L|HSPB7_ENST00000406363.2_Missense_Mutation_p.P133L	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	129					regulation of heart contraction (GO:0008016)|response to unfolded protein (GO:0006986)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CACGTCCTCCGGCAGCTGGCA	0.677																																																	0													71.0	66.0	68.0					1																	16342202		2203	4299	6502	SO:0001583	missense	0			AF155908	CCDS30611.1	1p36.23-p34.3	2011-09-02	2002-08-29		ENSG00000173641	ENSG00000173641		"""Heat shock proteins / HSPB"""	5249	protein-coding gene	gene with protein product		610692	"""heat shock 27kD protein family, member 7 (cardiovascular)"""			10593960	Standard	NM_014424		Approved	cvHSP	uc001axo.2	Q9UBY9	OTTHUMG00000009531	ENST00000311890.9:c.386C>T	1.37:g.16342202G>A	ENSP00000310111:p.Pro129Leu		B3KQ37|C9K0Y0|Q9NU17	Missense_Mutation	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.P134L	ENST00000311890.9	37	c.401	CCDS30611.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329122	0.81690	.	.	ENSG00000173641	ENST00000411503;ENST00000311890;ENST00000375718;ENST00000375714;ENST00000463576;ENST00000487046;ENST00000406363	D;D;D;D;D;D	0.98249	-4.82;-4.82;-4.82;-4.82;-4.82;-4.82	4.97	4.97	0.65823	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	D	0.99275	0.9747	H	0.95917	3.74	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.98810	1.0743	10	0.87932	D	0	-13.731	14.9386	0.70975	0.0:0.0:1.0:0.0	.	204;150;150;217;129	Q8N241;Q7Z3C1;Q5T5Q1;Q5T5Q2;Q9UBY9	.;.;.;.;HSPB7_HUMAN	L	124;129;204;222;83;134;133	ENSP00000391578:P124L;ENSP00000310111:P129L;ENSP00000364870:P204L;ENSP00000417966:P83L;ENSP00000419477:P134L;ENSP00000385472:P133L	ENSP00000310111:P129L	P	-	2	0	HSPB7	16214789	1.000000	0.71417	0.949000	0.38748	0.411000	0.31082	7.160000	0.77495	2.300000	0.77407	0.561000	0.74099	CCG	HSPB7	-	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom	ENSG00000173641		0.677	HSPB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HSPB7	HGNC	protein_coding	OTTHUMT00000026334.2	-	0.00	71	0	G	NM_014424		16342202	-1	tier1	-	no_errors	ENST00000487046	ensembl	human	known	74_37	missense	16.67	45	9	SNP	0.997	A
HYOU1	10525	genome.wustl.edu	37	11	118922241	118922241	+	Missense_Mutation	SNP	G	G	A	rs139920723		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr11:118922241G>A	ENST00000404233.3	-	13	1559	c.1435C>T	c.(1435-1437)Cgc>Tgc	p.R479C	HYOU1_ENST00000529972.1_Missense_Mutation_p.R479C|HYOU1_ENST00000525859.1_Missense_Mutation_p.R479C|HYOU1_ENST00000543287.1_Missense_Mutation_p.R392C	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	479					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		ATGACTTTGCGTTGAGGGTAG	0.557																																																	0								G	CYS/ARG,CYS/ARG	0,4400		0,0,2200	223.0	181.0	195.0		1435,1435	5.3	1.0	11	dbSNP_134	195	1,8589	1.2+/-3.3	0,1,4294	no	missense,missense	HYOU1	NM_001130991.1,NM_006389.3	180,180	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	479/1000,479/1000	118922241	1,12989	2200	4295	6495	SO:0001583	missense	0			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.1435C>T	11.37:g.118922241G>A	ENSP00000384144:p.Arg479Cys		A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.R479C	ENST00000404233.3	37	c.1435	CCDS8408.1	11	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492229	0.84962	0.0	1.16E-4	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000536103;ENST00000535579;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.00986	5.47;5.47;5.47;5.47;5.47	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.07007	0.0178	M	0.84773	2.715	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.998;0.998	P;D;P;P	0.69479	0.888;0.964;0.851;0.851	T	0.01140	-1.1439	10	0.87932	D	0	-12.6882	19.0611	0.93093	0.0:0.0:1.0:0.0	.	470;523;479;479	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	C	479;470;479;479;328;479;522;392;479	ENSP00000384144:R479C;ENSP00000437313:R479C;ENSP00000433397:R479C;ENSP00000442727:R392C;ENSP00000431874:R479C	ENSP00000278752:R470C	R	-	1	0	HYOU1	118427451	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.086000	0.71352	2.735000	0.93741	0.655000	0.94253	CGC	HYOU1	-	pfam_Hsp_70_fam	ENSG00000149428		0.557	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1	-	0.00	165	0	G	NM_006389		118922241	-1	tier1	rs139920723	no_errors	ENST00000404233	ensembl	human	known	74_37	missense	8.11	68	6	SNP	1.000	A
IL7R	3575	genome.wustl.edu	37	5	35876573	35876573	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr5:35876573C>G	ENST00000303115.3	+	8	1494	c.1365C>G	c.(1363-1365)ttC>ttG	p.F455L	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	455					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TGTCCAGCTTCTACCAAAACC	0.453			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																																	Dom	yes		5	5p13	146661	interleukin 7 receptor	yes	L	0													36.0	34.0	35.0					5																	35876573		2203	4300	6503	SO:0001583	missense	0			M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1365C>G	5.37:g.35876573C>G	ENSP00000306157:p.Phe455Leu		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3	p.F455L	ENST00000303115.3	37	c.1365	CCDS3911.1	5	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686726	0.68157	.	.	ENSG00000168685	ENST00000303115	T	0.52295	0.67	5.33	3.43	0.39272	.	0.057348	0.64402	N	0.000001	T	0.60779	0.2295	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.59726	-0.7400	10	0.87932	D	0	-9.645	5.7067	0.17913	0.0:0.7224:0.0:0.2776	.	455	P16871	IL7RA_HUMAN	L	455	ENSP00000306157:F455L	ENSP00000306157:F455L	F	+	3	2	IL7R	35912330	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	0.727000	0.25999	0.527000	0.28560	0.561000	0.74099	TTC	IL7R	-	NULL	ENSG00000168685		0.453	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL7R	HGNC	protein_coding	OTTHUMT00000207577.2	-	0.00	75	0	C			35876573	+1	tier1	-	no_errors	ENST00000303115	ensembl	human	known	74_37	missense	10.29	61	7	SNP	1.000	G
KRTAP4-3	85290	genome.wustl.edu	37	17	39324398	39324398	+	Silent	SNP	G	G	A	rs369294684		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr17:39324398G>A	ENST00000391356.2	-	1	26	c.27C>T	c.(25-27)gtC>gtT	p.V9V		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	9					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGTCAGAGCAGACAGAGCCAC	0.627																																																	0													29.0	32.0	31.0					17																	39324398		2192	4290	6482	SO:0001819	synonymous_variant	0			AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"""Keratin associated proteins"""	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.27C>T	17.37:g.39324398G>A				Silent	SNP	pfam_Keratin-assoc	p.V9	ENST00000391356.2	37	c.27	CCDS42331.1	17																																																																																			KRTAP4-3	-	pfam_Keratin-assoc	ENSG00000196156		0.627	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-3	HGNC	protein_coding	OTTHUMT00000257784.1	-	0.00	186	0	G			39324398	-1	tier1	-	no_errors	ENST00000391356	ensembl	human	known	74_37	silent	20.59	80	21	SNP	0.656	A
SMG1P7	100506060	genome.wustl.edu	37	16	70253716	70253716	+	RNA	SNP	T	T	A	rs145600612		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr16:70253716T>A	ENST00000581050.1	-	0	1676					NR_033959.1																						aagcaaaatttaaaaaaAAAA	0.289																																																	0																																												0																															16.37:g.70253716T>A				RNA	SNP	-	NULL	ENST00000581050.1	37	NULL		16																																																																																			RP11-296I10.6	-	-	ENSG00000261556		0.289	RP11-296I10.6-006	KNOWN	basic	processed_transcript	LOC100506060	Clone_based_vega_gene	pseudogene	OTTHUMT00000441629.1	-	0.00	75	0	T			70253716	-1	tier1	rs145600612	no_errors	ENST00000573141	ensembl	human	known	74_37	rna	10.39	68	8	SNP	0.109	A
LRP1B	53353	genome.wustl.edu	37	2	141665564	141665564	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr2:141665564G>T	ENST00000389484.3	-	22	4373	c.3402C>A	c.(3400-3402)ttC>ttA	p.F1134L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1134					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCCACACAAGAAACTGTCAC	0.453										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													195.0	161.0	172.0					2																	141665564		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3402C>A	2.37:g.141665564G>T	ENSP00000374135:p.Phe1134Leu		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.F1134L	ENST00000389484.3	37	c.3402	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	G	10.71	1.427384	0.25726	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.98958	-5.27;-5.27	5.58	1.79	0.24919	.	0.412136	0.24059	N	0.041940	D	0.92609	0.7652	N	0.05158	-0.105	0.24066	N	0.995995	B;B	0.17465	0.0;0.022	B;B	0.14023	0.001;0.01	D	0.84783	0.0774	10	0.08599	T	0.76	.	8.6274	0.33897	0.4292:0.0:0.5708:0.0	.	317;1134	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	L	1134;1072;279	ENSP00000374135:F1134L;ENSP00000413239:F279L	ENSP00000374135:F1134L	F	-	3	2	LRP1B	141382034	0.908000	0.30866	0.994000	0.49952	0.998000	0.95712	0.659000	0.24994	0.744000	0.32741	0.585000	0.79938	TTC	LRP1B	-	superfamily_LDrepeatLR_classA_rpt	ENSG00000168702		0.453	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	60	0	G	NM_018557		141665564	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.726	T
LRRC56	115399	genome.wustl.edu	37	11	550123	550123	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr11:550123C>A	ENST00000270115.7	+	8	975	c.475C>A	c.(475-477)Ctg>Atg	p.L159M		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	159										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACTGTGCCTGCTGGAACAATT	0.667																																																	0													105.0	98.0	100.0					11																	550123		2203	4300	6503	SO:0001583	missense	0				CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.475C>A	11.37:g.550123C>A	ENSP00000270115:p.Leu159Met		Q8N3Q4	Missense_Mutation	SNP	NULL	p.L159M	ENST00000270115.7	37	c.475	CCDS7700.1	11	.	.	.	.	.	.	.	.	.	.	C	17.10	3.304294	0.60305	.	.	ENSG00000161328	ENST00000270115	T	0.31769	1.48	5.1	4.18	0.49190	.	0.000000	0.64402	D	0.000002	T	0.57577	0.2063	M	0.88512	2.96	0.44635	D	0.997614	D	0.89917	1.0	D	0.66979	0.948	T	0.64309	-0.6438	10	0.56958	D	0.05	-27.8268	11.8346	0.52316	0.0:0.9103:0.0:0.0897	.	159	Q8IYG6	LRC56_HUMAN	M	159	ENSP00000270115:L159M	ENSP00000270115:L159M	L	+	1	2	LRRC56	540123	1.000000	0.71417	0.998000	0.56505	0.657000	0.38888	2.231000	0.43009	2.373000	0.80994	0.491000	0.48974	CTG	LRRC56	-	NULL	ENSG00000161328		0.667	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC56	HGNC	protein_coding	OTTHUMT00000254969.1	-	0.00	109	0	C	NM_198075		550123	+1	tier1	-	no_errors	ENST00000270115	ensembl	human	known	74_37	missense	15.09	45	8	SNP	1.000	A
MED12L	116931	genome.wustl.edu	37	3	150883635	150883635	+	Missense_Mutation	SNP	G	G	C			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr3:150883635G>C	ENST00000474524.1	+	10	1398	c.1360G>C	c.(1360-1362)Gtg>Ctg	p.V454L	MED12L_ENST00000273432.4_Missense_Mutation_p.V314L|MED12L_ENST00000309237.4_Missense_Mutation_p.V454L|MED12L_ENST00000422248.2_Missense_Mutation_p.V454L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	454						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCCTATAGGGGTGACTATTAG	0.373																																																	0													152.0	145.0	147.0					3																	150883635		2203	4300	6503	SO:0001583	missense	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1360G>C	3.37:g.150883635G>C	ENSP00000417235:p.Val454Leu		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.V454L	ENST00000474524.1	37	c.1360	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813545	0.50527	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.69	5.69	0.88448	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.064020	0.64402	D	0.000005	T	0.28167	0.0695	L	0.40543	1.245	0.44946	D	0.997964	B;B;B;P	0.40794	0.232;0.45;0.244;0.729	B;B;B;B	0.40444	0.176;0.329;0.132;0.288	T	0.01776	-1.1276	10	0.29301	T	0.29	-19.6649	14.2684	0.66135	0.0:0.0:0.8511:0.1489	.	314;454;454;454	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	L	454;454;454;314	ENSP00000403308:V454L;ENSP00000310760:V454L;ENSP00000417235:V454L;ENSP00000273432:V314L	ENSP00000273432:V314L	V	+	1	0	MED12L	152366325	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	4.077000	0.57598	2.676000	0.91093	0.655000	0.94253	GTG	MED12L	-	pfam_Mediator_Med12_LCEWAV	ENSG00000144893		0.373	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	-	0.00	97	0	G	NM_053002		150883635	+1	tier1	-	no_errors	ENST00000474524	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	C
MGST3	4259	genome.wustl.edu	37	1	165620279	165620279	+	Missense_Mutation	SNP	A	A	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:165620279A>T	ENST00000367889.3	+	3	586	c.146A>T	c.(145-147)gAa>gTa	p.E49V	MGST3_ENST00000367886.2_Missense_Mutation_p.E63V|MGST3_ENST00000367888.4_Missense_Mutation_p.E49V|MGST3_ENST00000367883.1_Missense_Mutation_p.E63V|MGST3_ENST00000367885.1_Missense_Mutation_p.E63V|MGST3_ENST00000367884.2_Missense_Mutation_p.E49V	NM_004528.3	NP_004519.1	O14880	MGST3_HUMAN	microsomal glutathione S-transferase 3	49					glutathione derivative biosynthetic process (GO:1901687)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|peroxidase activity (GO:0004601)			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)	ACGGACCCTGAAAATGGGCAC	0.483																																																	0													170.0	153.0	159.0					1																	165620279		2203	4300	6503	SO:0001583	missense	0			AF026977	CCDS1249.1	1q23	2012-06-21			ENSG00000143198	ENSG00000143198	2.5.1.18	"""Glutathione S-transferases / Microsomal"""	7064	protein-coding gene	gene with protein product	"""microsomal glutathione S-transferase III"", ""microsomal GST-3"", ""microsomal GST-III"""	604564				9278457	Standard	NM_004528		Approved	GST-III	uc001gdf.3	O14880	OTTHUMG00000034627	ENST00000367889.3:c.146A>T	1.37:g.165620279A>T	ENSP00000356864:p.Glu49Val		B2R592|Q6ICN4	Missense_Mutation	SNP	pfam_Membr-assoc_MAPEG	p.E63V	ENST00000367889.3	37	c.188	CCDS1249.1	1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.251978	0.80135	.	.	ENSG00000143198	ENST00000367889;ENST00000367888;ENST00000367885;ENST00000404549;ENST00000367884;ENST00000367883;ENST00000367886	T;T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57	5.83	5.83	0.93111	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.000000	0.85682	D	0.000000	T	0.74015	0.3661	M	0.84683	2.71	0.50039	D	0.999840	P;P	0.42248	0.774;0.687	P;P	0.48089	0.566;0.544	T	0.80020	-0.1557	9	0.56958	D	0.05	-46.9711	14.1488	0.65367	1.0:0.0:0.0:0.0	.	63;49	Q5VV89;O14880	.;MGST3_HUMAN	V	49;49;63;63;49;63;63	ENSP00000356864:E49V;ENSP00000356863:E49V;ENSP00000356860:E63V;ENSP00000384372:E63V;ENSP00000356859:E49V;ENSP00000356858:E63V;ENSP00000356861:E63V	ENSP00000356858:E63V	E	+	2	0	MGST3	163886903	1.000000	0.71417	0.874000	0.34290	0.892000	0.51952	8.144000	0.89623	2.225000	0.72522	0.533000	0.62120	GAA	MGST3	-	pfam_Membr-assoc_MAPEG	ENSG00000143198		0.483	MGST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGST3	HGNC	protein_coding	OTTHUMT00000083797.3	-	0.00	124	0	A	NM_004528		165620279	+1	tier1	-	no_errors	ENST00000367886	ensembl	human	known	74_37	missense	14.10	67	11	SNP	1.000	T
MPP5	64398	genome.wustl.edu	37	14	67799567	67799567	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr14:67799567C>T	ENST00000261681.4	+	15	2583	c.1922C>T	c.(1921-1923)aCg>aTg	p.T641M	MPP5_ENST00000555925.1_Missense_Mutation_p.T607M|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	641	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)	p.T641M(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TACTTTGATACGGCAATTGTG	0.403																																																	1	Substitution - Missense(1)	kidney(1)											96.0	86.0	90.0					14																	67799567		2203	4300	6503	SO:0001583	missense	0			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1922C>T	14.37:g.67799567C>T	ENSP00000261681:p.Thr641Met		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.T641M	ENST00000261681.4	37	c.1922	CCDS9779.1	14	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777306	0.49786	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.17370	2.28;2.28	5.55	5.55	0.83447	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.101886	0.64402	D	0.000002	T	0.10380	0.0254	N	0.04787	-0.16	0.80722	D	1	B	0.22851	0.076	B	0.20767	0.031	T	0.27806	-1.0063	10	0.18276	T	0.48	.	19.5081	0.95127	0.0:1.0:0.0:0.0	.	641	Q8N3R9	MPP5_HUMAN	M	641;607	ENSP00000261681:T641M;ENSP00000451488:T607M	ENSP00000261681:T641M	T	+	2	0	MPP5	66869320	1.000000	0.71417	0.986000	0.45419	0.908000	0.53690	5.919000	0.70005	2.616000	0.88540	0.591000	0.81541	ACG	MPP5	-	pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like	ENSG00000072415		0.403	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	-	0.00	67	0	C	NM_022474		67799567	+1	tier1	-	no_errors	ENST00000261681	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.999	T
MYB	4602	genome.wustl.edu	37	6	135539216	135539216	+	3'UTR	SNP	C	C	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr6:135539216C>A	ENST00000367814.4	+	0	2207				MYB_ENST00000442647.2_3'UTR|MYB_ENST00000316528.8_3'UTR|MYB_ENST00000525369.1_3'UTR|MYB_ENST00000341911.5_3'UTR|MYB_ENST00000531845.1_3'UTR	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GGGAGAAGAACCTATTTTTGT	0.348			T	NFIB	adenoid cystic carcinoma																																			Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.*98C>A	6.37:g.135539216C>A			E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	RNA	SNP	-	NULL	ENST00000367814.4	37	NULL	CCDS5174.1	6																																																																																			MYB	-	-	ENSG00000118513		0.348	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	HGNC	protein_coding	OTTHUMT00000042347.4	-	0.00	70	0	C			135539216	+1	tier1	-	no_errors	ENST00000531845	ensembl	human	known	74_37	rna	12.50	28	4	SNP	0.899	A
MYO9A	4649	genome.wustl.edu	37	15	72190310	72190310	+	Missense_Mutation	SNP	T	T	C			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr15:72190310T>C	ENST00000356056.5	-	25	5006	c.4534A>G	c.(4534-4536)Atg>Gtg	p.M1512V	MYO9A_ENST00000424560.1_Missense_Mutation_p.M1512V|MYO9A_ENST00000564571.1_Missense_Mutation_p.M1512V|MYO9A_ENST00000566885.1_Missense_Mutation_p.M1132V|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.M1493V	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1512	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGTTCCATCATCTCTTTTTCA	0.403																																																	0													90.0	89.0	90.0					15																	72190310		2199	4297	6496	SO:0001583	missense	0			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.4534A>G	15.37:g.72190310T>C	ENSP00000348349:p.Met1512Val		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.M1512V	ENST00000356056.5	37	c.4534	CCDS10239.1	15	.	.	.	.	.	.	.	.	.	.	T	17.54	3.415659	0.62511	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.87412	-2.05;-2.25;-2.05	5.88	4.76	0.60689	.	.	.	.	.	T	0.79879	0.4522	L	0.29908	0.895	0.48395	D	0.999647	P;P;B	0.43287	0.802;0.717;0.278	B;B;B	0.41271	0.337;0.352;0.084	T	0.75036	-0.3459	9	0.15066	T	0.55	.	13.1875	0.59691	0.0:0.0:0.1411:0.8589	.	1493;1512;1512	B2RTY4-2;B2RTY4-4;B2RTY4	.;.;MYO9A_HUMAN	V	1512;1512;1493	ENSP00000348349:M1512V;ENSP00000399162:M1512V;ENSP00000398250:M1493V	ENSP00000348349:M1512V	M	-	1	0	MYO9A	69977364	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.851000	0.69481	1.054000	0.40438	0.524000	0.50904	ATG	MYO9A	-	NULL	ENSG00000066933		0.403	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	-	0.00	169	0	T	NM_006901		72190310	-1	tier1	-	no_errors	ENST00000424560	ensembl	human	known	74_37	missense	7.29	89	7	SNP	1.000	C
NAP1L3	4675	genome.wustl.edu	37	X	92927199	92927199	+	Silent	SNP	T	T	G			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chrX:92927199T>G	ENST00000373079.3	-	1	1368	c.1105A>C	c.(1105-1107)Aga>Cga	p.R369R	FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|NAP1L3_ENST00000475430.2_Silent_p.R362R|FAM133A_ENST00000355813.5_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	369					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						ACCTCATTTCTGAAGTATGGG	0.408																																																	0													44.0	40.0	41.0					X																	92927199		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.1105A>C	X.37:g.92927199T>G			B2RCM0|O60788	Silent	SNP	pfam_NAP_family	p.R369	ENST00000373079.3	37	c.1105	CCDS14465.1	X																																																																																			NAP1L3	-	pfam_NAP_family	ENSG00000186310		0.408	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L3	HGNC	protein_coding	OTTHUMT00000057449.1	-	0.00	38	0	T	NM_004538		92927199	-1	tier1	-	no_errors	ENST00000373079	ensembl	human	known	74_37	silent	23.08	10	3	SNP	0.996	G
NCKAP5	344148	genome.wustl.edu	37	2	133483202	133483202	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr2:133483202G>T	ENST00000409261.1	-	19	6084	c.5711C>A	c.(5710-5712)cCa>cAa	p.P1904Q	NCKAP5_ENST00000405974.3_Missense_Mutation_p.P585Q|NCKAP5_ENST00000409213.1_Missense_Mutation_p.P585Q|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1904Q	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1904										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GTTGTTACCTGGGGCAGCGCT	0.537																																																	0													77.0	76.0	76.0					2																	133483202		1951	4139	6090	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.5711C>A	2.37:g.133483202G>T	ENSP00000387128:p.Pro1904Gln		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.P1904Q	ENST00000409261.1	37	c.5711	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705581	0.48412	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.52983	2.77;0.64;2.77;0.64	4.58	-1.62	0.08372	.	.	.	.	.	T	0.18045	0.0433	N	0.02539	-0.55	0.19300	N	0.999976	B;B	0.13594	0.001;0.008	B;B	0.14023	0.005;0.01	T	0.30387	-0.9980	9	0.06365	T	0.9	.	10.9111	0.47110	0.0762:0.0:0.1899:0.7339	.	585;1904	O14513-2;O14513	.;NCKP5_HUMAN	Q	1904;585;1904;585;585	ENSP00000387128:P1904Q;ENSP00000386952:P585Q;ENSP00000380603:P1904Q;ENSP00000385692:P585Q	ENSP00000380603:P1904Q	P	-	2	0	NCKAP5	133199672	0.985000	0.35326	0.168000	0.22838	0.771000	0.43674	-0.215000	0.09279	-0.226000	0.09899	0.563000	0.77884	CCA	NCKAP5	-	NULL	ENSG00000176771		0.537	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	-	0.00	94	0	G	NM_207481		133483202	-1	tier1	-	no_errors	ENST00000317721	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.368	T
NKD2	85409	genome.wustl.edu	37	5	1034951	1034951	+	Silent	SNP	C	C	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr5:1034951C>T	ENST00000296849.5	+	7	736	c.507C>T	c.(505-507)ctC>ctT	p.L169L	NKD2_ENST00000382730.2_5'Flank|NKD2_ENST00000274150.4_Silent_p.L169L|NKD2_ENST00000537972.1_Silent_p.L169L	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	169	Interaction with DVL1, DVL2 and DVL3. {ECO:0000250}.|Targeting to the basolateral cell membrane.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GCAAGACCCTCCGTGTGAAGC	0.622																																																	0													68.0	55.0	60.0					5																	1034951		2201	4295	6496	SO:0001819	synonymous_variant	0			AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"""EF-hand domain containing"""	17046	protein-coding gene	gene with protein product	"""naked cuticle-2"", ""Dvl-binding protein NKD2"""	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.507C>T	5.37:g.1034951C>T			Q96EK8|Q9BSN0	Silent	SNP	pfscan_EF_hand_dom	p.L169	ENST00000296849.5	37	c.507	CCDS3859.1	5																																																																																			NKD2	-	NULL	ENSG00000145506		0.622	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NKD2	HGNC	protein_coding	OTTHUMT00000206720.2	-	0.00	48	0	C	NM_033120		1034951	+1	tier1	-	no_errors	ENST00000296849	ensembl	human	known	74_37	silent	16.67	30	6	SNP	0.949	T
NLRP1	22861	genome.wustl.edu	37	17	5434003	5434003	+	Silent	SNP	G	G	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr17:5434003G>T	ENST00000572272.1	-	12	3317	c.3318C>A	c.(3316-3318)ggC>ggA	p.G1106G	NLRP1_ENST00000577119.1_Silent_p.G1076G|NLRP1_ENST00000354411.3_Silent_p.G1076G|NLRP1_ENST00000269280.4_Silent_p.G1106G|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Silent_p.G1110G|NLRP1_ENST00000345221.3_Silent_p.G1106G			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1106					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGCGGTAGGAGCCAGCTACAG	0.562																																																	0													63.0	60.0	61.0					17																	5434003		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.3318C>A	17.37:g.5434003G>T			E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.G1106	ENST00000572272.1	37	c.3318	CCDS42246.1	17																																																																																			NLRP1	-	NULL	ENSG00000091592		0.562	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1		0.00	43	0	G	NM_033004		5434003	-1			no_errors	ENST00000572272	ensembl	human	known	74_37	silent	10.34	26	3	SNP	0.810	T
NOL9	79707	genome.wustl.edu	37	1	6610498	6610498	+	Missense_Mutation	SNP	T	T	C			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:6610498T>C	ENST00000377705.5	-	2	606	c.574A>G	c.(574-576)Aaa>Gaa	p.K192E		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	192					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTCCCTTTTCAGTTCCTTC	0.433																																																	0													133.0	133.0	133.0					1																	6610498		2203	4300	6503	SO:0001583	missense	0			AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.574A>G	1.37:g.6610498T>C	ENSP00000366934:p.Lys192Glu		Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase	p.K192E	ENST00000377705.5	37	c.574	CCDS80.1	1	.	.	.	.	.	.	.	.	.	.	T	10.90	1.482393	0.26598	.	.	ENSG00000162408	ENST00000377705	T	0.44881	0.91	5.23	5.23	0.72850	.	0.455845	0.20923	N	0.083259	T	0.28433	0.0703	L	0.54323	1.7	0.09310	N	1	P	0.43094	0.799	B	0.32762	0.152	T	0.25502	-1.0130	10	0.07175	T	0.84	-14.408	9.2573	0.37590	0.0:0.0:0.1818:0.8182	.	192	Q5SY16	NOL9_HUMAN	E	192	ENSP00000366934:K192E	ENSP00000366934:K192E	K	-	1	0	NOL9	6533085	0.259000	0.24043	0.118000	0.21660	0.246000	0.25737	2.309000	0.43699	2.197000	0.70478	0.454000	0.30748	AAA	NOL9	-	NULL	ENSG00000162408		0.433	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL9	HGNC	protein_coding	OTTHUMT00000002625.1	-	0.00	102	0	T	NM_024654		6610498	-1	tier1	-	no_errors	ENST00000377705	ensembl	human	known	74_37	missense	18.64	48	11	SNP	0.043	C
NRCAM	4897	genome.wustl.edu	37	7	107872803	107872803	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr7:107872803C>A	ENST00000425651.2	-	4	393	c.394G>T	c.(394-396)Gca>Tca	p.A132S	NRCAM_ENST00000413765.2_Missense_Mutation_p.A132S|NRCAM_ENST00000379028.3_Missense_Mutation_p.A132S|NRCAM_ENST00000379024.4_Missense_Mutation_p.A132S|NRCAM_ENST00000351718.4_Missense_Mutation_p.A126S|NRCAM_ENST00000379022.4_Missense_Mutation_p.A132S	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	132	Ig-like 1.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTAGAAACTGCAGCTCCGCGT	0.458																																																	0													184.0	166.0	172.0					7																	107872803		2203	4300	6503	SO:0001583	missense	0				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.394G>T	7.37:g.107872803C>A	ENSP00000401244:p.Ala132Ser		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A132S	ENST00000425651.2	37	c.394	CCDS47686.1	7	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646882	0.87958	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979;ENST00000417701	T;T;T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67;2.67;2.67	4.9	4.9	0.64082	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	M	0.76727	2.345	0.80722	D	1	D;D;D;D;D	0.76494	0.978;0.999;0.983;0.978;0.997	D;D;D;D;D	0.91635	0.98;0.999;0.988;0.953;0.997	T	0.34950	-0.9808	10	0.87932	D	0	.	18.4727	0.90781	0.0:1.0:0.0:0.0	.	132;132;132;126;132	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	S	132;132;132;132;126;132;132;132;126;126	ENSP00000368314:A132S;ENSP00000407858:A132S;ENSP00000325269:A126S;ENSP00000368310:A132S;ENSP00000401244:A132S;ENSP00000368308:A132S;ENSP00000390421:A126S	ENSP00000325269:A126S	A	-	1	0	NRCAM	107660039	1.000000	0.71417	0.933000	0.37362	0.424000	0.31475	7.750000	0.85110	2.422000	0.82143	0.655000	0.94253	GCA	NRCAM	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000091129		0.458	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	-	0.00	84	0	C	NM_001037132		107872803	-1	tier1	-	no_errors	ENST00000379028	ensembl	human	known	74_37	missense	9.00	91	9	SNP	1.000	A
OR2M2	391194	genome.wustl.edu	37	1	248344165	248344165	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:248344165G>A	ENST00000359682.2	+	1	878	c.878G>A	c.(877-879)cGc>cAc	p.R293H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TACAGCCTCCGCAACAAGGAG	0.463																																																	0													181.0	173.0	176.0					1																	248344165		2203	4300	6503	SO:0001583	missense	0			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.878G>A	1.37:g.248344165G>A	ENSP00000352710:p.Arg293His		A3KFT4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R293H	ENST00000359682.2	37	c.878	CCDS31106.1	1	.	.	.	.	.	.	.	.	.	.	g	9.089	1.001315	0.19121	.	.	ENSG00000198601	ENST00000359682	T	0.41065	1.01	2.14	0.053	0.14305	.	.	.	.	.	T	0.45316	0.1336	M	0.87971	2.92	0.09310	N	1	B	0.24675	0.109	B	0.20577	0.03	T	0.47315	-0.9127	9	0.72032	D	0.01	.	7.526	0.27656	0.2356:0.0:0.7644:0.0	.	293	Q96R28	OR2M2_HUMAN	H	293	ENSP00000352710:R293H	ENSP00000352710:R293H	R	+	2	0	OR2M2	246410788	0.126000	0.22350	0.000000	0.03702	0.001000	0.01503	2.143000	0.42187	-0.103000	0.12175	-0.391000	0.06502	CGC	OR2M2	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000198601		0.463	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M2	HGNC	protein_coding	OTTHUMT00000097356.2	-	0.00	166	0	G	NM_001004688		248344165	+1	tier1	-	no_errors	ENST00000359682	ensembl	human	known	74_37	missense	13.10	72	11	SNP	0.001	A
OR6C6	283365	genome.wustl.edu	37	12	55688667	55688667	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr12:55688667G>A	ENST00000358433.2	-	1	349	c.350C>T	c.(349-351)tCc>tTc	p.S117F		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GCGGTCATAGGACATGGCAGC	0.408																																																	0													61.0	59.0	60.0					12																	55688667		2203	4300	6503	SO:0001583	missense	0				CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.350C>T	12.37:g.55688667G>A	ENSP00000351211:p.Ser117Phe			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S117F	ENST00000358433.2	37	c.350	CCDS31817.1	12	.	.	.	.	.	.	.	.	.	.	-	16.83	3.231286	0.58777	.	.	ENSG00000188324	ENST00000358433	T	0.01379	4.96	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000139	T	0.06508	0.0167	H	0.95712	3.71	0.46185	D	0.998918	B	0.31859	0.343	B	0.33620	0.167	T	0.02059	-1.1221	10	0.72032	D	0.01	.	16.7963	0.85603	0.0:0.0:1.0:0.0	.	117	A6NF89	OR6C6_HUMAN	F	117	ENSP00000351211:S117F	ENSP00000351211:S117F	S	-	2	0	OR6C6	53974934	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	5.957000	0.70323	2.359000	0.80004	0.580000	0.79431	TCC	OR6C6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000188324		0.408	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C6	HGNC	protein_coding	OTTHUMT00000398151.1	-	0.00	80	0	G			55688667	-1	tier1	-	no_errors	ENST00000358433	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	A
OR8G1	26494	genome.wustl.edu	37	11	124121122	124121122	+	RNA	SNP	A	A	G			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr11:124121122A>G	ENST00000534473.2	+	0	700				OR8G1_ENST00000341493.2_RNA			Q15617	OR8G1_HUMAN	olfactory receptor, family 8, subfamily G, member 1						detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		CACTGAGGGCAGGTCCAAAGC	0.473																																																	0													122.0	117.0	118.0					11																	124121122		2103	4259	6362			0			AB065946	CCDS73407.1	11q24.2	2013-01-23	2004-07-27	2005-05-16	ENSG00000197849	ENSG00000197849		"""GPCR / Class A : Olfactory receptors"""	8484	protein-coding gene	gene with protein product			"""olfactory receptor, family 8, subfamily G, member 1 pseudogene"""	OR8G1P		9119360	Standard	NR_045681		Approved	TPCR25, HSTPCR25	uc031qep.1	Q15617	OTTHUMG00000165974		11.37:g.124121122A>G			Q8NG88	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R234G	ENST00000534473.2	37	c.700		11																																																																																			OR8G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000197849		0.473	OR8G1-001	KNOWN	basic	polymorphic_pseudogene	OR8G1	HGNC	polymorphic_pseudogene	OTTHUMT00000387282.2	-	0.00	140	0	A	NM_001002905		124121122	+1	tier1	-	no_errors	ENST00000341493	ensembl	human	known	74_37	missense	7.61	85	7	SNP	0.003	G
OSBPL6	114880	genome.wustl.edu	37	2	179247154	179247154	+	Missense_Mutation	SNP	A	A	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr2:179247154A>T	ENST00000190611.4	+	16	1917	c.1541A>T	c.(1540-1542)gAt>gTt	p.D514V	OSBPL6_ENST00000357080.4_Missense_Mutation_p.D447V|OSBPL6_ENST00000315022.2_Missense_Mutation_p.D518V|OSBPL6_ENST00000409045.3_Missense_Mutation_p.D483V|OSBPL6_ENST00000409631.1_Missense_Mutation_p.D478V|OSBPL6_ENST00000392505.2_Missense_Mutation_p.D539V|OSBPL6_ENST00000359685.3_Missense_Mutation_p.D478V	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	514					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TAGGCTTCAGATGATGAGTCT	0.353																																																	0													111.0	106.0	108.0					2																	179247154		2203	4300	6503	SO:0001583	missense	0			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1541A>T	2.37:g.179247154A>T	ENSP00000190611:p.Asp514Val		B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D518V	ENST00000190611.4	37	c.1553	CCDS2277.1	2	.	.	.	.	.	.	.	.	.	.	A	29.0	4.969117	0.92855	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.19669	2.56;2.61;2.13;2.59;2.56;2.61;2.56	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.45196	0.1330	M	0.61703	1.905	0.80722	D	1	D;D;B;D;D;D	0.89917	0.979;0.997;0.244;0.997;0.993;1.0	P;D;B;D;P;D	0.87578	0.905;0.951;0.14;0.951;0.796;0.998	T	0.25572	-1.0128	10	0.46703	T	0.11	-22.0731	16.4237	0.83790	1.0:0.0:0.0:0.0	.	483;518;478;539;514;447	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	V	539;478;447;483;514;478;518	ENSP00000376293:D539V;ENSP00000352713:D478V;ENSP00000349591:D447V;ENSP00000387248:D483V;ENSP00000190611:D514V;ENSP00000386885:D478V;ENSP00000318723:D518V	ENSP00000190611:D514V	D	+	2	0	OSBPL6	178955400	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.278000	0.95766	2.279000	0.76181	0.533000	0.62120	GAT	OSBPL6	-	NULL	ENSG00000079156		0.353	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSBPL6	HGNC	protein_coding	OTTHUMT00000334393.2	-	0.00	82	0	A	NM_032523		179247154	+1	tier1	-	no_errors	ENST00000315022	ensembl	human	known	74_37	missense	18.42	31	7	SNP	1.000	T
OSTCP1	202459	genome.wustl.edu	37	6	159262436	159262436	+	RNA	DEL	T	T	-	rs113403325		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr6:159262436delT	ENST00000522287.1	-	0	907					NR_028496.1				oligosaccharyltransferase complex subunit pseudogene 1																		AATATGGAGCTTTTTTTTTTA	0.323																																																	0																																												0			BC024224		6q25.3	2011-09-02	2011-09-02	2011-09-02	ENSG00000243775	ENSG00000243775			30530	pseudogene	pseudogene	"""DC2 protein-like"""		"""oligosaccharyltransferase complex subunit-like"""	OSTCL		12477932	Standard	NR_028496		Approved	DC2L	uc003qrw.4		OTTHUMG00000015919		6.37:g.159262436delT				RNA	DEL	-	NULL	ENST00000522287.1	37	NULL		6																																																																																			OSTCP1	-	-	ENSG00000243775		0.323	OSTCP1-002	KNOWN	basic	processed_transcript	OSTCP1	HGNC	pseudogene	OTTHUMT00000042884.2		0.00	10	0	T	NM_145303		159262436	-1			no_errors	ENST00000522287	ensembl	human	known	74_37	rna	18.18	9	2	DEL	0.000	0
OVGP1	5016	genome.wustl.edu	37	1	111957574	111957574	+	Missense_Mutation	SNP	C	C	A	rs386634633|rs376377993		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:111957574C>A	ENST00000369732.3	-	11	1604	c.1549G>T	c.(1549-1551)Gtg>Ttg	p.V517L		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	517					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCAGGGGTCACAGACTGATAA	0.567																																																	0																																										SO:0001583	missense	0			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1549G>T	1.37:g.111957574C>A	ENSP00000358747:p.Val517Leu		A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.V517L	ENST00000369732.3	37	c.1549	CCDS834.1	1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668663	0.29604	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.05996	3.36	3.19	2.26	0.28386	.	.	.	.	.	T	0.01870	0.0059	L	0.38175	1.15	0.09310	N	0.999997	B;B	0.20887	0.049;0.049	B;B	0.16722	0.016;0.016	T	0.44221	-0.9342	9	0.72032	D	0.01	.	6.7535	0.23499	0.0:0.854:0.0:0.146	.	517;581	Q12889;Q59HH5	OVGP1_HUMAN;.	L	517;581;325	ENSP00000358747:V517L	ENSP00000358743:V581L	V	-	1	0	OVGP1	111759097	0.001000	0.12720	0.001000	0.08648	0.204000	0.24138	0.174000	0.16743	0.607000	0.29982	0.454000	0.30748	GTG	OVGP1	-	NULL	ENSG00000085465		0.567	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVGP1	HGNC	protein_coding	OTTHUMT00000032461.1	-	0.00	97	0	C	NM_002557		111957574	-1	tier1	-	no_errors	ENST00000369732	ensembl	human	known	74_37	missense	14.29	41	7	SNP	0.010	A
PC	5091	genome.wustl.edu	37	11	66616073	66616073	+	3'UTR	SNP	A	A	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr11:66616073A>T	ENST00000393958.2	-	0	3927				PC_ENST00000393955.2_3'UTR|PC_ENST00000529047.1_3'UTR|PC_ENST00000528224.1_5'UTR|PC_ENST00000393960.1_3'UTR	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase						biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CCCAGGAGATAGGACCCCTAA	0.547																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.*297T>A	11.37:g.66616073A>T			B4DN00|Q16705	RNA	SNP	-	NULL	ENST00000393958.2	37	NULL	CCDS8152.1	11																																																																																			PC	-	-	ENSG00000173599		0.547	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PC	HGNC	protein_coding	OTTHUMT00000393115.1	-	0.00	91	0	A	NM_001040716		66616073	-1	tier1	-	no_errors	ENST00000528224	ensembl	human	putative	74_37	rna	13.24	59	9	SNP	0.000	T
PCBP2	5094	genome.wustl.edu	37	12	53848620	53848620	+	Silent	SNP	C	C	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr12:53848620C>A	ENST00000439930.3	+	1	58	c.36C>A	c.(34-36)gtC>gtA	p.V12V	PCBP2_ENST00000552296.2_Silent_p.V12V|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000541275.1_Silent_p.V12V|PCBP2_ENST00000548933.1_Silent_p.V12V|PCBP2_ENST00000359462.5_Silent_p.V12V|PCBP2_ENST00000437231.1_Silent_p.V12V|PCBP2_ENST00000552819.1_Silent_p.V12V|PCBP2_ENST00000359282.5_Silent_p.V12V|PCBP2_ENST00000549863.1_Silent_p.V12V|PCBP2_ENST00000455667.3_Silent_p.V12V|PCBP2_ENST00000546463.1_Silent_p.V12V|PCBP2_ENST00000447282.1_Silent_p.V12V|PCBP2_ENST00000603815.1_Silent_p.V12V			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	12					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						GATTAAATGTCACTCTCACCA	0.517																																																	0													153.0	125.0	135.0					12																	53848620		2203	4300	6503	SO:0001819	synonymous_variant	0			BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.36C>A	12.37:g.53848620C>A			A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Silent	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.V12	ENST00000439930.3	37	c.36	CCDS44901.1	12																																																																																			PCBP2	-	smart_KH_dom	ENSG00000197111		0.517	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	PCBP2	HGNC	protein_coding	OTTHUMT00000407545.2	-	0.00	115	0	C	NM_005016		53848620	+1	tier1	-	no_errors	ENST00000603815	ensembl	human	known	74_37	silent	9.30	39	4	SNP	1.000	A
PDXP	57026	genome.wustl.edu	37	22	38055258	38055258	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr22:38055258G>T	ENST00000215904.6	+	1	525	c.469G>T	c.(469-471)Gcc>Tcc	p.A157S	SH3BP1_ENST00000599616.1_Intron|Z83844.1_ENST00000456099.1_RNA	NM_020315.4	NP_064711.1	Q96GD0	PLPP_HUMAN	pyridoxal (pyridoxine, vitamin B6) phosphatase	157					actin rod assembly (GO:0031247)|cellular response to ATP (GO:0071318)|positive regulation of actin filament depolymerization (GO:0030836)|protein dephosphorylation (GO:0006470)|pyridoxal phosphate catabolic process (GO:0032361)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heat shock protein binding (GO:0031072)|magnesium ion binding (GO:0000287)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|pyridoxal phosphatase activity (GO:0033883)			kidney(1)|large_intestine(1)|lung(5)|ovary(2)	9	Melanoma(58;0.0574)					CTTCTCCTTCGCCAAGCTGAG	0.766																																																	0													13.0	13.0	13.0					22																	38055258		2110	4163	6273	SO:0001583	missense	0			BC064922	CCDS13953.1	22q12.3	2005-08-16			ENSG00000241360	ENSG00000241360			30259	protein-coding gene	gene with protein product		609246				14522954	Standard	NM_020315		Approved	dJ37E16.5, FLJ32703		Q96GD0	OTTHUMG00000044618	ENST00000215904.6:c.469G>T	22.37:g.38055258G>T	ENSP00000215904:p.Ala157Ser		Q9UGY2	Missense_Mutation	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_PGP_euk,tigrfam_HAD-SF_hydro_IIA	p.A157S	ENST00000215904.6	37	c.469	CCDS13953.1	22	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926211	0.34002	.	.	ENSG00000241360	ENST00000215904	T	0.29917	1.55	4.81	-6.05	0.02172	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);Nitrophenylphosphatase-like  domain (1);	.	.	.	.	T	0.15089	0.0364	L	0.35487	1.065	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.28073	-1.0055	9	0.13108	T	0.6	-6.2685	6.0371	0.19714	0.1957:0.0:0.2665:0.5378	.	157	Q96GD0	PLPP_HUMAN	S	157	ENSP00000215904:A157S	ENSP00000215904:A157S	A	+	1	0	PDXP	36385204	1.000000	0.71417	0.934000	0.37439	0.001000	0.01503	1.454000	0.35178	-0.629000	0.05575	-0.251000	0.11542	GCC	PDXP	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_PGP_euk,tigrfam_HAD-SF_hydro_IIA	ENSG00000241360		0.766	PDXP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDXP	HGNC	protein_coding	OTTHUMT00000104105.2		0.00	10	0	G	NM_020315		38055258	+1			no_errors	ENST00000215904	ensembl	human	known	74_37	missense	42.86	4	3	SNP	0.973	T
PGAP3	93210	genome.wustl.edu	37	17	37842243	37842243	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr17:37842243C>T	ENST00000300658.4	-	2	303	c.211G>A	c.(211-213)Gag>Aag	p.E71K	ERBB2_ENST00000406381.2_5'Flank|PGAP3_ENST00000429199.2_Missense_Mutation_p.E71K|PGAP3_ENST00000378011.4_Missense_Mutation_p.E71K|ERBB2_ENST00000578199.1_5'Flank|PGAP3_ENST00000579146.1_Missense_Mutation_p.E71K|ERBB2_ENST00000584601.1_5'Flank	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	71					GPI anchor biosynthetic process (GO:0006506)|GPI anchor metabolic process (GO:0006505)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						CACATACACTCATACTTACAG	0.537																																																	0													137.0	92.0	107.0					17																	37842243		2203	4300	6503	SO:0001583	missense	0			AB088396	CCDS32641.1	17q21.2	2009-06-02	2009-06-02	2009-06-02		ENSG00000161395			23719	protein-coding gene	gene with protein product	"""post-GPI attachment to proteins 3"""	611801	"""per1-like domain containing 1"""	PERLD1		15010812, 17021251, 17314402	Standard	NM_001291728		Approved	MGC9753, CAB2, PP1498, PER1	uc002hsj.3	Q96FM1		ENST00000300658.4:c.211G>A	17.37:g.37842243C>T	ENSP00000300658:p.Glu71Lys		B4DGK7|Q86Z03|Q8NBJ8	Missense_Mutation	SNP	pfam_Per1	p.E71K	ENST00000300658.4	37	c.211	CCDS32641.1	17	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192283	0.58017	.	.	ENSG00000161395	ENST00000300658;ENST00000378011;ENST00000309862;ENST00000429199	.	.	.	5.22	4.25	0.50352	.	0.129222	0.51477	D	0.000081	T	0.45357	0.1338	L	0.46614	1.455	0.42344	D	0.992342	B;B;B;B	0.19583	0.009;0.001;0.037;0.02	B;B;B;B	0.19148	0.013;0.024;0.017;0.011	T	0.30060	-0.9991	9	0.15952	T	0.53	-13.2733	8.3869	0.32505	0.0:0.7598:0.156:0.0842	.	71;15;71;71	B4DGK7;B4DVJ3;Q96FM1-2;Q96FM1	.;.;.;PGAP3_HUMAN	K	71;71;15;71	.	ENSP00000300658:E71K	E	-	1	0	PGAP3	35095769	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.477000	0.45180	1.205000	0.43262	0.561000	0.74099	GAG	PGAP3	-	pfam_Per1	ENSG00000161395		0.537	PGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP3	HGNC	protein_coding	OTTHUMT00000444825.2	-	0.00	57	0	C	NM_033419		37842243	-1	tier1	-	no_errors	ENST00000300658	ensembl	human	known	74_37	missense	15.79	32	6	SNP	1.000	T
PINK1	65018	genome.wustl.edu	37	1	20964578	20964578	+	Missense_Mutation	SNP	G	G	T	rs201885172		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:20964578G>T	ENST00000321556.4	+	2	725	c.631G>T	c.(631-633)Gcc>Tcc	p.A211S		NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	211	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGCTCCGGGGGCCCCTGCCTT	0.562																																					Esophageal Squamous(145;853 1803 8146 34412 35011)												0													35.0	36.0	36.0					1																	20964578		2203	4300	6503	SO:0001583	missense	0			AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"""Parkinson disease"""	14581	protein-coding gene	gene with protein product		608309	"""Parkinson disease (autosomal recessive) 6"""	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.631G>T	1.37:g.20964578G>T	ENSP00000364204:p.Ala211Ser		Q8N6T9|Q8NBU3|Q96DE4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A211S	ENST00000321556.4	37	c.631	CCDS211.1	1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851151	0.51270	.	.	ENSG00000158828	ENST00000321556	T	0.73897	-0.79	5.24	-1.93	0.07594	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.583198	0.18731	N	0.132729	T	0.41282	0.1152	N	0.08118	0	0.09310	N	0.999999	B	0.17465	0.022	B	0.11329	0.006	T	0.29274	-1.0017	10	0.07644	T	0.81	-11.5657	2.9891	0.05978	0.1604:0.3911:0.3153:0.1333	.	211	Q9BXM7	PINK1_HUMAN	S	211	ENSP00000364204:A211S	ENSP00000364204:A211S	A	+	1	0	PINK1	20837165	0.000000	0.05858	0.014000	0.15608	0.854000	0.48673	-0.329000	0.07935	-0.187000	0.10516	0.555000	0.69702	GCC	PINK1	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000158828		0.562	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PINK1	HGNC	protein_coding	OTTHUMT00000007954.1		0.00	63	0	G	NM_032409		20964578	+1			no_errors	ENST00000321556	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.068	T
PPEF2	5470	genome.wustl.edu	37	4	76794369	76794369	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr4:76794369G>T	ENST00000286719.7	-	12	1773	c.1417C>A	c.(1417-1419)Caa>Aaa	p.Q473K		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	473	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGCAACTGTTGTGTCACATCA	0.478																																					NSCLC(105;1359 1603 15961 44567 47947)												0													190.0	172.0	178.0					4																	76794369		2203	4300	6503	SO:0001583	missense	0			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1417C>A	4.37:g.76794369G>T	ENSP00000286719:p.Gln473Lys		O14831	Missense_Mutation	SNP	pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,prints_Ser/Thr-sp_prot-phosphatase,pfscan_EF_hand_dom	p.Q473K	ENST00000286719.7	37	c.1417	CCDS34013.1	4	.	.	.	.	.	.	.	.	.	.	G	2.696	-0.272098	0.05716	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	D	0.84442	-1.85	5.5	1.71	0.24356	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	0.417082	0.28026	N	0.016896	T	0.62551	0.2437	N	0.05177	-0.1	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.47923	-0.9079	10	0.07813	T	0.8	-3.38	6.9685	0.24637	0.0:0.5727:0.2725:0.1548	.	473;473	O14830-2;O14830	.;PPE2_HUMAN	K	473	ENSP00000286719:Q473K	ENSP00000286719:Q473K	Q	-	1	0	PPEF2	77013393	0.062000	0.20869	0.044000	0.18714	0.001000	0.01503	1.360000	0.34125	0.297000	0.22615	-0.147000	0.13772	CAA	PPEF2	-	pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase	ENSG00000156194		0.478	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF2	HGNC	protein_coding	OTTHUMT00000362929.1	-	0.00	119	0	G	NM_006239		76794369	-1	tier1	-	no_errors	ENST00000286719	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.183	T
GRIN3A	116443	genome.wustl.edu	37	9	104356907	104356907	+	Intron	SNP	G	G	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr9:104356907G>A	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.Y102Y	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TATCCATGTCGTAAATGCTGA	0.537																																																	0													149.0	135.0	140.0					9																	104356907		2203	4300	6503	SO:0001627	intron_variant	0				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15265C>T	9.37:g.104356907G>A			B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.Y102	ENST00000361820.3	37	c.306	CCDS6758.1	9																																																																																			PPP3R2	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000188386		0.537	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP3R2	HGNC	protein_coding	OTTHUMT00000053453.1	-	0.00	109	0	G			104356907	-1	tier1	-	no_errors	ENST00000374806	ensembl	human	known	74_37	silent	8.89	41	4	SNP	1.000	A
PROX1	5629	genome.wustl.edu	37	1	214171007	214171007	+	Missense_Mutation	SNP	C	C	T	rs368029419		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:214171007C>T	ENST00000366958.4	+	2	1737	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	PROX1_ENST00000261454.4_Missense_Mutation_p.R377C|PROX1_ENST00000498508.2_Missense_Mutation_p.R377C|PROX1_ENST00000435016.1_Missense_Mutation_p.R377C	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	377					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CAAGCCCTCCCGCCAGGTTCC	0.547																																																	0								C	CYS/ARG	0,4406		0,0,2203	102.0	102.0	102.0		1129	5.5	1.0	1		102	1,8599	1.2+/-3.3	0,1,4299	no	missense	PROX1	NM_002763.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	377/738	214171007	1,13005	2203	4300	6503	SO:0001583	missense	0			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1129C>T	1.37:g.214171007C>T	ENSP00000355925:p.Arg377Cys		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	pfam_Homeo_prospero_dom,superfamily_Homeodomain-like	p.R377C	ENST00000366958.4	37	c.1129	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156142	0.57259	0.0	1.16E-4	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.48201	0.83;0.82;0.83;0.83	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.65186	0.2667	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	P	0.60609	0.877	T	0.66452	-0.5920	10	0.59425	D	0.04	-3.8807	19.3843	0.94550	0.0:1.0:0.0:0.0	.	377	Q92786	PROX1_HUMAN	C	377	ENSP00000420283:R377C;ENSP00000355925:R377C;ENSP00000400694:R377C;ENSP00000261454:R377C	ENSP00000261454:R377C	R	+	1	0	PROX1	212237630	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.574000	0.86865	0.563000	0.77884	CGC	PROX1	-	pfam_Homeo_prospero_dom	ENSG00000117707		0.547	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6	-	0.00	37	0	C	NM_002763		214171007	+1	tier1	-	no_errors	ENST00000261454	ensembl	human	known	74_37	missense	20.69	23	6	SNP	1.000	T
PTGER4	5734	genome.wustl.edu	37	5	40681944	40681944	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr5:40681944C>G	ENST00000302472.3	+	2	1873	c.849C>G	c.(847-849)atC>atG	p.I283M		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	283					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	TGGTGCTCATCTGCTCCATCC	0.657																																																	0													36.0	40.0	39.0					5																	40681944		2123	4074	6197	SO:0001583	missense	0			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.849C>G	5.37:g.40681944C>G	ENSP00000302846:p.Ile283Met		Q3MJ87	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt	p.I283M	ENST00000302472.3	37	c.849	CCDS3930.1	5	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185767	0.78789	.	.	ENSG00000171522	ENST00000302472	T	0.44482	0.92	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.045854	0.85682	D	0.000000	T	0.63426	0.2510	M	0.65677	2.01	0.58432	D	0.999993	D	0.69078	0.997	D	0.69307	0.963	T	0.64702	-0.6345	10	0.51188	T	0.08	-33.7082	18.6347	0.91372	0.0:1.0:0.0:0.0	.	283	P35408	PE2R4_HUMAN	M	283	ENSP00000302846:I283M	ENSP00000302846:I283M	I	+	3	3	PTGER4	40717701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.736000	0.62059	2.402000	0.81655	0.561000	0.74099	ATC	PTGER4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prostanoid_rcpt	ENSG00000171522		0.657	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER4	HGNC	protein_coding	OTTHUMT00000211578.2	-	0.00	43	0	C	NM_000958		40681944	+1	tier1	-	no_errors	ENST00000302472	ensembl	human	known	74_37	missense	40.00	15	10	SNP	1.000	G
PTPN14	5784	genome.wustl.edu	37	1	214557130	214557131	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:214557130_214557131insA	ENST00000366956.5	-	13	2261_2262	c.2067_2068insT	c.(2065-2070)ctccctfs	p.P690fs	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	690					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGATACTGAGGGAGCTGGGGGA	0.634																																					Colon(92;557 1424 24372 34121 40073)												0																																										SO:0001589	frameshift_variant	0			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2067_2068insT	1.37:g.214557130_214557131insA	ENSP00000355923:p.Pro690fs		Q5VSI0	Frame_Shift_Ins	INS	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.P689fs	ENST00000366956.5	37	c.2068_2067	CCDS1514.1	1																																																																																			PTPN14	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21	ENSG00000152104		0.634	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	HGNC	protein_coding	OTTHUMT00000089918.2		0.00	63	0	-	NM_005401		214557131	-1	tier1		no_errors	ENST00000366956	ensembl	human	known	74_37	frame_shift_ins	36.00	16	9	INS	0.970:0.517	A
RPLP0	6175	genome.wustl.edu	37	12	120639171	120639171	+	5'Flank	DEL	A	A	-	rs190517329		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr12:120639171delA	ENST00000551150.1	-	0	0				PXN-AS1_ENST00000539446.1_RNA|RPLP0_ENST00000313104.5_5'Flank|PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000542265.1_RNA|RPLP0_ENST00000392514.4_5'Flank|RPLP0_ENST00000228306.4_5'Flank|PXN-AS1_ENST00000538804.1_RNA|RPLP0_ENST00000546989.1_5'Flank|RPLP0_ENST00000550296.1_5'Flank|PXN-AS1_ENST00000542314.1_RNA			P05388	RLA0_HUMAN	ribosomal protein, large, P0						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGGAGCTGGAGCTGCGAATT	0.577											OREG0022184	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001631	upstream_gene_variant	0			AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317		12.37:g.120639171delA	Exception_encountered	1505	Q3B7A4|Q9BVK4	RNA	DEL	-	NULL	ENST00000551150.1	37	NULL	CCDS9193.1	12																																																																																			PXN-AS1	-	-	ENSG00000255857		0.577	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PXN-AS1	HGNC	protein_coding	OTTHUMT00000403448.3		0.00	11	0	A	NM_053275		120639171	+1			no_errors	ENST00000538804	ensembl	human	known	74_37	rna	28.57	5	2	DEL	0.000	0
RABGGTB	5876	genome.wustl.edu	37	1	76260328	76260328	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:76260328T>G	ENST00000319942.3	+	9	1060	c.989T>G	c.(988-990)gTg>gGg	p.V330G	MSH4_ENST00000263187.3_5'Flank|RABGGTB_ENST00000535300.1_Missense_Mutation_p.V156G|RABGGTB_ENST00000496055.1_3'UTR	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	330					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						CCTGAGCTAGTGAGCTAGATT	0.363																																																	0													114.0	111.0	112.0					1																	76260328		2203	4300	6503	SO:0001583	missense	0			U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.989T>G	1.37:g.76260328T>G	ENSP00000317473:p.Val330Gly		Q92697	Missense_Mutation	SNP	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase	p.V330G	ENST00000319942.3	37	c.989	CCDS669.1	1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.356110	0.61293	.	.	ENSG00000137955	ENST00000535300;ENST00000319942	.	.	.	4.96	4.96	0.65561	.	0.116513	0.64402	D	0.000016	T	0.14657	0.0354	N	0.08118	0	0.80722	D	1	P	0.42973	0.796	B	0.32583	0.148	T	0.14364	-1.0475	9	0.87932	D	0	-19.9514	14.9334	0.70935	0.0:0.0:0.0:1.0	.	330	P53611	PGTB2_HUMAN	G	156;330	.	ENSP00000317473:V330G	V	+	2	0	RABGGTB	76032916	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	6.056000	0.71111	1.981000	0.57761	0.379000	0.24179	GTG	RABGGTB	-	NULL	ENSG00000137955		0.363	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGGTB	HGNC	protein_coding	OTTHUMT00000026972.1	-	0.00	78	0	T	NM_004582		76260328	+1	tier1	-	no_errors	ENST00000319942	ensembl	human	known	74_37	missense	9.52	37	4	SNP	1.000	G
RHOBTB3	22836	genome.wustl.edu	37	5	95103749	95103749	+	Splice_Site	SNP	G	G	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr5:95103749G>T	ENST00000379982.3	+	8	1669		c.e8-1		RHOBTB3_ENST00000504179.1_Splice_Site|GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3						ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TTCCCTTATAGATTAATTGCC	0.348																																																	0													79.0	78.0	78.0					5																	95103749		2202	4300	6502	SO:0001630	splice_region_variant	0			AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.1162-1G>T	5.37:g.95103749G>T			A0PJA4|A8K1W9|Q8IW06	Splice_Site	SNP	-	e8-1	ENST00000379982.3	37	c.1162-1	CCDS4077.1	5	.	.	.	.	.	.	.	.	.	.	G	15.50	2.850792	0.51270	.	.	ENSG00000164292	ENST00000379982;ENST00000504179	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.454	0.87602	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RHOBTB3	95129505	1.000000	0.71417	0.998000	0.56505	0.683000	0.39861	5.374000	0.66167	2.857000	0.98124	0.650000	0.86243	.	RHOBTB3	-	-	ENSG00000164292		0.348	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOBTB3	HGNC	protein_coding	OTTHUMT00000241658.1		0.00	101	0	G	NM_014899	Intron	95103749	+1			no_errors	ENST00000379982	ensembl	human	known	74_37	splice_site	6.00	47	3	SNP	1.000	T
RNF216P1	441191	genome.wustl.edu	37	7	5016059	5016059	+	IGR	SNP	G	G	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr7:5016059G>A								MMD2 (17215 upstream) : RBAK-RBAKDN (7289 downstream)																							CACTGCCATCGGGGACAAGGT	0.393																																																	0																																										SO:0001628	intergenic_variant	0																															7.37:g.5016059G>A				RNA	SNP	-	NULL		37	NULL		7																																																																																			RNF216P1	-	-	ENSG00000196204	0	0.393					RNF216P1	HGNC			-	0.00	155	0	G			5016059	+1	tier1	-	no_errors	ENST00000403969	ensembl	human	known	74_37	rna	27.47	66	25	SNP	1.000	A
RPUSD1	113000	genome.wustl.edu	37	16	836115	836115	+	Silent	SNP	G	G	A	rs144842334		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr16:836115G>A	ENST00000561734.1	-	5	1017	c.774C>T	c.(772-774)ccC>ccT	p.P258P	CHTF18_ENST00000455171.2_5'Flank|RPUSD1_ENST00000567114.1_Silent_p.P129P|CHTF18_ENST00000317063.6_5'Flank|MSLNL_ENST00000442466.1_5'Flank|RPUSD1_ENST00000565809.1_3'UTR|RPUSD1_ENST00000007264.2_Silent_p.P258P|CHTF18_ENST00000262315.9_5'Flank			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	258	Pro-rich.				pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GGTCAGGGTCGGGGGTGGCCC	0.726																																																	0								G		1,4379		0,1,2189	20.0	26.0	24.0		774	-8.4	0.2	16	dbSNP_134	24	0,8574		0,0,4287	no	coding-synonymous	RPUSD1	NM_058192.2		0,1,6476	AA,AG,GG		0.0,0.0228,0.0077		258/313	836115	1,12953	2190	4287	6477	SO:0001819	synonymous_variant	0			AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"""RNA pseudouridylate synthase domain containing"""	14173	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 40"""	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.774C>T	16.37:g.836115G>A			D3DU66	Silent	SNP	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom	p.P258	ENST00000561734.1	37	c.774	CCDS10426.1	16																																																																																			RPUSD1	-	NULL	ENSG00000007376		0.726	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RPUSD1	HGNC	protein_coding	OTTHUMT00000420620.1	-	0.00	36	0	G	NM_058192		836115	-1	tier1	rs144842334	no_errors	ENST00000007264	ensembl	human	known	74_37	silent	25.00	15	5	SNP	0.004	A
SAMD9L	219285	genome.wustl.edu	37	7	92765282	92765282	+	Start_Codon_SNP	SNP	C	C	G			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr7:92765282C>G	ENST00000318238.4	-	5	1219	c.3G>C	c.(1-3)atG>atC	p.M1I	SAMD9L_ENST00000437805.1_Start_Codon_SNP_p.M1I|SAMD9L_ENST00000411955.1_Start_Codon_SNP_p.M1I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTGTTTACTCATATCAAAGC	0.294																																																	0													86.0	90.0	88.0					7																	92765282		2200	4299	6499	SO:0001582	initiator_codon_variant	0			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3G>C	7.37:g.92765282C>G	ENSP00000326247:p.Met1Ile		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM	p.M1I	ENST00000318238.4	37	c.3	CCDS34681.1	7	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197063	0.79015	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805;ENST00000394472;ENST00000446959;ENST00000439952;ENST00000414791;ENST00000446033	T;T;T	0.26660	1.72;1.72;1.72	4.54	4.54	0.55810	.	0.278799	0.30547	N	0.009387	T	0.20700	0.0498	.	.	.	0.23555	N	0.997427	B	0.28636	0.218	B	0.31101	0.124	T	0.17501	-1.0367	9	0.66056	D	0.02	-4.7634	9.1067	0.36703	0.0:0.8602:0.0:0.1398	.	1	Q8IVG5	SAM9L_HUMAN	I	1	ENSP00000326247:M1I;ENSP00000405760:M1I;ENSP00000408796:M1I	ENSP00000326247:M1I	M	-	3	0	SAMD9L	92603218	0.119000	0.22226	0.188000	0.23233	0.518000	0.34316	1.152000	0.31663	2.376000	0.81061	0.460000	0.39030	ATG	SAMD9L	-	NULL	ENSG00000177409		0.294	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1	-	0.00	56	0	C	NM_152703	Missense_Mutation	92765282	-1	tier1	-	no_errors	ENST00000318238	ensembl	human	known	74_37	missense	27.38	61	23	SNP	0.189	G
SCN1B	6324	genome.wustl.edu	37	19	35524873	35524873	+	Intron	SNP	C	C	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr19:35524873C>T	ENST00000262631.5	+	3	585				CTD-2527I21.9_ENST00000601692.1_RNA|SCN1B_ENST00000596348.1_Intron|SCN1B_ENST00000415950.3_Silent_p.S226S|SCN1B_ENST00000595652.1_Intron	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit						axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	Acagacgctccgggtacagaa	0.612																																																	0													55.0	67.0	63.0					19																	35524873		1188	2205	3393	SO:0001627	intron_variant	0				CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10586	protein-coding gene	gene with protein product		600235	"""sodium channel, voltage-gated, type I, beta polypeptide"", ""sodium channel, voltage-gated, type I, beta"""			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.448+230C>T	19.37:g.35524873C>T			Q5TZZ4|Q6TN97	Silent	SNP	pfam_Immunoglobulin,pfam_Ig_V-set	p.S226	ENST00000262631.5	37	c.678	CCDS12441.1	19																																																																																			SCN1B	-	NULL	ENSG00000105711		0.612	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN1B	HGNC	protein_coding	OTTHUMT00000461567.1	-	0.00	106	0	C			35524873	+1	tier1	-	no_errors	ENST00000415950	ensembl	human	novel	74_37	silent	32.56	29	14	SNP	0.001	T
SCYL1	57410	genome.wustl.edu	37	11	65304155	65304155	+	Silent	SNP	C	C	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr11:65304155C>T	ENST00000270176.5	+	13	1827	c.1750C>T	c.(1750-1752)Ctg>Ttg	p.L584L	SCYL1_ENST00000279270.6_Silent_p.L584L|SCYL1_ENST00000524944.1_Silent_p.L584L|SCYL1_ENST00000420247.2_Silent_p.L584L|SCYL1_ENST00000527009.1_Silent_p.L441L|SCYL1_ENST00000525364.1_Silent_p.L584L|SCYL1_ENST00000533862.1_Silent_p.L584L	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	584					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						CACCTCCAAGCTGATCCGTTC	0.617																																																	0													116.0	132.0	127.0					11																	65304155		2147	4242	6389	SO:0001819	synonymous_variant	0			AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1750C>T	11.37:g.65304155C>T			A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	p.L584	ENST00000270176.5	37	c.1750	CCDS41672.1	11																																																																																			SCYL1	-	NULL	ENSG00000142186		0.617	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL1	HGNC	protein_coding	OTTHUMT00000389159.2	-	0.00	64	0	C	NM_020680		65304155	+1	tier1	-	no_errors	ENST00000270176	ensembl	human	known	74_37	silent	13.33	26	4	SNP	1.000	T
SEL1L2	80343	genome.wustl.edu	37	20	13850835	13850835	+	Silent	SNP	G	G	A	rs185157057		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr20:13850835G>A	ENST00000284951.5	-	13	1193	c.1119C>T	c.(1117-1119)ggC>ggT	p.G373G	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.G373G			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	373						integral component of membrane (GO:0016021)		p.G373G(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GCCCATGAAGGCCGATTGCAT	0.323																																																	1	Substitution - coding silent(1)	large_intestine(1)											72.0	73.0	73.0					20																	13850835		1802	4075	5877	SO:0001819	synonymous_variant	0			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1119C>T	20.37:g.13850835G>A			B4DXX5	Silent	SNP	pfam_Sel1-like,smart_Sel1-like	p.G373	ENST00000284951.5	37	c.1119		20																																																																																			SEL1L2	-	smart_Sel1-like	ENSG00000101251		0.323	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SEL1L2	HGNC	protein_coding	OTTHUMT00000078067.3	-	0.00	75	0	G	NM_025229		13850835	-1	tier1	-	no_errors	ENST00000284951	ensembl	human	known	74_37	silent	29.63	38	16	SNP	1.000	A
SEL1L2	80343	genome.wustl.edu	37	20	13850839	13850840	+	Frame_Shift_Ins	INS	-	-	T	rs199815314		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr20:13850839_13850840insT	ENST00000284951.5	-	13	1188_1189	c.1114_1115insA	c.(1114-1116)atcfs	p.I372fs	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Frame_Shift_Ins_p.I372fs			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	372						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ATGAAGGCCGATTGCATTGCCC	0.337																																																	0																																										SO:0001589	frameshift_variant	0			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1115dupA	20.37:g.13850841_13850841dupT	ENSP00000284951:p.Ile372fs		B4DXX5	Frame_Shift_Ins	INS	pfam_Sel1-like,smart_Sel1-like	p.I372fs	ENST00000284951.5	37	c.1115_1114		20																																																																																			SEL1L2	-	smart_Sel1-like	ENSG00000101251		0.337	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SEL1L2	HGNC	protein_coding	OTTHUMT00000078067.3		0.00	71	0	-	NM_025229		13850840	-1	tier1		no_errors	ENST00000284951	ensembl	human	known	74_37	frame_shift_ins	28.30	38	15	INS	1.000:1.000	T
SEMA3C	10512	genome.wustl.edu	37	7	80432008	80432008	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr7:80432008C>T	ENST00000265361.3	-	9	1450	c.889G>A	c.(889-891)Ggc>Agc	p.G297S	SEMA3C_ENST00000536800.1_Missense_Mutation_p.G149S|SEMA3C_ENST00000419255.2_Missense_Mutation_p.G297S|SEMA3C_ENST00000544525.1_Missense_Mutation_p.G315S	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	297	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GTTTCTGGGCCGTCTTCATCT	0.393																																																	0													119.0	109.0	112.0					7																	80432008		2203	4300	6503	SO:0001583	missense	0			AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.889G>A	7.37:g.80432008C>T	ENSP00000265361:p.Gly297Ser		B4DRL8	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Ig_I-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.G315S	ENST00000265361.3	37	c.943	CCDS5596.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.698506	0.96802	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525;ENST00000536800	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.61148	0.2324	M	0.89785	3.06	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.983;0.99	T	0.69165	-0.5217	10	0.72032	D	0.01	.	19.3601	0.94434	0.0:1.0:0.0:0.0	.	149;315;297	B4DRL8;F5H1Z7;Q99985	.;.;SEM3C_HUMAN	S	297;297;315;149	ENSP00000265361:G297S;ENSP00000411193:G297S;ENSP00000445649:G315S;ENSP00000438258:G149S	ENSP00000265361:G297S	G	-	1	0	SEMA3C	80269944	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.802000	0.85969	2.581000	0.87130	0.585000	0.79938	GGC	SEMA3C	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000075223		0.393	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3C	HGNC	protein_coding	OTTHUMT00000253279.1		0.00	48	0	C	NM_006379		80432008	-1			no_errors	ENST00000544525	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T
SEMA3A	10371	genome.wustl.edu	37	7	83592579	83592579	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr7:83592579G>T	ENST00000265362.4	-	16	2116	c.1802C>A	c.(1801-1803)tCg>tAg	p.S601*	SEMA3A_ENST00000436949.1_Nonsense_Mutation_p.S601*	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	601	Ig-like C2-type.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CGCTCTCTGCGACTTCGGACT	0.443																																																	0													160.0	154.0	156.0					7																	83592579		2203	4300	6503	SO:0001587	stop_gained	0			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1802C>A	7.37:g.83592579G>T	ENSP00000265362:p.Ser601*			Nonsense_Mutation	SNP	pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.S601*	ENST00000265362.4	37	c.1802	CCDS5599.1	7	.	.	.	.	.	.	.	.	.	.	G	39	7.655195	0.98415	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	.	.	.	6.05	6.05	0.98169	.	0.106561	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	.	.	.	X	601	.	ENSP00000265362:S601X	S	-	2	0	SEMA3A	83430515	1.000000	0.71417	0.969000	0.41365	0.512000	0.34134	9.414000	0.97362	2.878000	0.98634	0.650000	0.86243	TCG	SEMA3A	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000075213		0.443	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	HGNC	protein_coding	OTTHUMT00000253355.2	-	0.00	77	0	G	NM_006080		83592579	-1	tier1	-	no_errors	ENST00000265362	ensembl	human	known	74_37	nonsense	5.41	70	4	SNP	1.000	T
SLC30A3	7781	genome.wustl.edu	37	2	27480186	27480186	+	Frame_Shift_Del	DEL	G	G	-	rs148758588		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr2:27480186delG	ENST00000233535.4	-	5	965	c.613delC	c.(613-615)cacfs	p.H205fs	SLC30A3_ENST00000447008.2_Frame_Shift_Del_p.H200fs	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	205					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGTGGCTGTGGGGGGGCCCA	0.657																																																	0													16.0	18.0	17.0					2																	27480186		2202	4299	6501	SO:0001589	frameshift_variant	0			U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.613delC	2.37:g.27480186delG	ENSP00000233535:p.His205fs		Q8TC03	Frame_Shift_Del	DEL	pfam_Cation_efflux,tigrfam_Cation_efflux	p.H205fs	ENST00000233535.4	37	c.613	CCDS1743.1	2																																																																																			SLC30A3	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000115194		0.657	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A3	HGNC	protein_coding	OTTHUMT00000250189.2		0.00	112	0	G			27480186	-1	tier1		no_errors	ENST00000233535	ensembl	human	known	74_37	frame_shift_del	15.56	38	7	DEL	0.996	-
SLC30A3	7781	genome.wustl.edu	37	2	27480193	27480193	+	Silent	SNP	C	C	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr2:27480193C>T	ENST00000233535.4	-	5	958	c.606G>A	c.(604-606)ggG>ggA	p.G202G	SLC30A3_ENST00000447008.2_Silent_p.G197G	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	202					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGGGGGGGCCCAGCCTGGT	0.662																																																	0													16.0	18.0	18.0					2																	27480193		2203	4299	6502	SO:0001819	synonymous_variant	0			U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.606G>A	2.37:g.27480193C>T			Q8TC03	Silent	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.G202	ENST00000233535.4	37	c.606	CCDS1743.1	2																																																																																			SLC30A3	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000115194		0.662	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A3	HGNC	protein_coding	OTTHUMT00000250189.2	-	0.00	112	0	C			27480193	-1	tier1	-	no_errors	ENST00000233535	ensembl	human	known	74_37	silent	15.22	39	7	SNP	0.997	T
SLC46A3	283537	genome.wustl.edu	37	13	29278264	29278265	+	Intron	INS	-	-	AA	rs113200616|rs34310301|rs537016644|rs554117979|rs536813326	byFrequency	TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr13:29278264_29278265insAA	ENST00000266943.6	-	5	1514				RNU6-53P_ENST00000365367.1_RNA|SLC46A3_ENST00000380814.4_Intron|SLC46A3_ENST00000475385.1_5'UTR	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3						transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AGAGAGAGAGGAAAAAAAAAAG	0.381																																																	0																																										SO:0001627	intron_variant	0				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.1145-28->TT	13.37:g.29278273_29278274dupAA			Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	RNA	INS	-	NULL	ENST00000266943.6	37	NULL	CCDS9332.1	13																																																																																			SLC46A3	-	-	ENSG00000139508		0.381	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC46A3	HGNC	protein_coding	OTTHUMT00000276111.1		0.00	30	0	-	NM_181785		29278265	-1	tier1		no_errors	ENST00000475385	ensembl	human	known	74_37	rna	13.33	13	2	INS	0.001:0.000	AA
SLC6A3	6531	genome.wustl.edu	37	5	1443252	1443252	+	Missense_Mutation	SNP	G	G	A	rs533057143		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr5:1443252G>A	ENST00000270349.9	-	2	188	c.61C>T	c.(61-63)Ccc>Tcc	p.P21S	SLC6A3_ENST00000453492.2_Missense_Mutation_p.P21S	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	21					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ACGGCATTGGGCTCCTTAGCC	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		18704	0.001		0.0	False		,,,				2504	0.0																0													74.0	78.0	76.0					5																	1443252		2203	4300	6503	SO:0001583	missense	0				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.61C>T	5.37:g.1443252G>A	ENSP00000270349:p.Pro21Ser		A2RUN4|Q14996	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine	p.P21S	ENST00000270349.9	37	c.61	CCDS3863.1	5	.	.	.	.	.	.	.	.	.	.	G	1.389	-0.581336	0.03854	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.72051	-0.62;-0.62	4.34	-2.36	0.06663	.	0.518222	0.19441	N	0.114163	T	0.33614	0.0869	N	0.04880	-0.145	0.25003	N	0.991453	B	0.02656	0.0	B	0.08055	0.003	T	0.23476	-1.0187	10	0.06891	T	0.86	.	0.9703	0.01414	0.4439:0.1746:0.2213:0.1602	.	21	Q01959	SC6A3_HUMAN	S	21	ENSP00000270349:P21S;ENSP00000399806:P21S	ENSP00000270349:P21S	P	-	1	0	SLC6A3	1496252	0.969000	0.33509	0.086000	0.20670	0.062000	0.15995	0.205000	0.17356	-0.337000	0.08426	0.561000	0.74099	CCC	SLC6A3	-	prints_Na/ntran_symport_dopamine	ENSG00000142319		0.607	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A3	HGNC	protein_coding	OTTHUMT00000253650.3	-	0.00	68	0	G	NM_001044		1443252	-1	tier1	-	no_errors	ENST00000270349	ensembl	human	known	74_37	missense	16.00	42	8	SNP	0.786	A
SNX14	57231	genome.wustl.edu	37	6	86277260	86277260	+	Silent	SNP	C	C	T	rs527678843		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr6:86277260C>T	ENST00000314673.3	-	5	629	c.453G>A	c.(451-453)ccG>ccA	p.P151P	SNX14_ENST00000513865.1_Silent_p.P151P|SNX14_ENST00000369627.2_Silent_p.P151P|SNX14_ENST00000505648.1_Silent_p.P99P|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000346348.3_Intron|RP11-321N4.5_ENST00000503906.1_3'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	151	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ACCTGTACCACGGATAAACAA	0.279													C|||	1	0.000199681	0.0	0.0	5008	,	,		17877	0.0		0.0	False		,,,				2504	0.001																0													74.0	78.0	77.0					6																	86277260		2203	4298	6501	SO:0001819	synonymous_variant	0			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.453G>A	6.37:g.86277260C>T			B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Silent	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam	p.P151	ENST00000314673.3	37	c.453	CCDS5004.1	6																																																																																			SNX14	-	pfam_Phox_assoc,smart_PX_assoc_Snx13,pfscan_Phox_assoc	ENSG00000135317		0.279	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX14	HGNC	protein_coding	OTTHUMT00000041393.2	-	0.00	18	0	C	NM_153816		86277260	-1	tier1	-	no_errors	ENST00000314673	ensembl	human	known	74_37	silent	27.27	8	3	SNP	0.864	T
SOX5	6660	genome.wustl.edu	37	12	23999004	23999004	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr12:23999004G>A	ENST00000451604.2	-	3	495	c.394C>T	c.(394-396)Cct>Tct	p.P132S	SOX5_ENST00000441133.2_Missense_Mutation_p.P97S|SOX5_ENST00000546136.1_Missense_Mutation_p.P119S|SOX5_ENST00000309359.1_Missense_Mutation_p.P119S|SOX5_ENST00000545921.1_Missense_Mutation_p.P122S|SOX5_ENST00000537393.1_Missense_Mutation_p.P97S|SOX5_ENST00000541847.1_Missense_Mutation_p.P122S|SOX5_ENST00000381381.2_Missense_Mutation_p.P119S|SOX5_ENST00000541536.1_Missense_Mutation_p.P119S			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	132					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CGCCGTTCAGGAGTTCCCAGG	0.517																																																	0													138.0	124.0	129.0					12																	23999004		2203	4300	6503	SO:0001583	missense	0			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.394C>T	12.37:g.23999004G>A	ENSP00000398273:p.Pro132Ser		B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.P132S	ENST00000451604.2	37	c.394	CCDS8699.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.157344	0.94686	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000441133;ENST00000538083	D;D;D;D;D;D;D	0.98835	-5.07;-5.07;-5.17;-5.08;-4.73;-5.17;-5.08	5.79	5.79	0.91817	.	0.053452	0.85682	D	0.000000	D	0.99140	0.9703	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.996;1.0	D;D;D;D	0.91635	0.998;0.999;0.986;0.999	D	0.99854	1.1075	10	0.87932	D	0	.	20.0349	0.97554	0.0:0.0:1.0:0.0	.	97;97;119;132	G3V0H1;F5H0I3;P35711-4;P35711	.;.;.;SOX5_HUMAN	S	119;119;119;132;84;97;119;122;122;97;119	ENSP00000437487:P119S;ENSP00000308927:P119S;ENSP00000370788:P119S;ENSP00000398273:P132S;ENSP00000439832:P97S;ENSP00000441973:P119S;ENSP00000443520:P122S	ENSP00000308927:P119S	P	-	1	0	SOX5	23890271	1.000000	0.71417	0.886000	0.34754	0.992000	0.81027	9.458000	0.97634	2.744000	0.94065	0.650000	0.86243	CCT	SOX5	-	NULL	ENSG00000134532		0.517	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	HGNC	protein_coding	OTTHUMT00000402006.2	-	0.00	56	0	G	NM_006940		23999004	-1	tier1	-	no_errors	ENST00000451604	ensembl	human	known	74_37	missense	21.62	29	8	SNP	1.000	A
SPG11	80208	genome.wustl.edu	37	15	44914420	44914420	+	Silent	SNP	G	G	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr15:44914420G>T	ENST00000261866.7	-	13	2458	c.2442C>A	c.(2440-2442)ccC>ccA	p.P814P	SPG11_ENST00000427534.2_Silent_p.P814P|SPG11_ENST00000535302.2_Silent_p.P814P|SPG11_ENST00000558319.1_Silent_p.P814P	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	814					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GAGACTACCTGGGAAATGACT	0.323																																																	0													87.0	89.0	88.0					15																	44914420		2198	4297	6495	SO:0001819	synonymous_variant	0				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.2442C>A	15.37:g.44914420G>T			A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	NULL	p.P814	ENST00000261866.7	37	c.2442	CCDS10112.1	15																																																																																			SPG11	-	NULL	ENSG00000104133		0.323	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	-	0.00	90	0	G			44914420	-1	tier1	-	no_errors	ENST00000261866	ensembl	human	known	74_37	silent	9.09	30	3	SNP	1.000	T
SREBF1	6720	genome.wustl.edu	37	17	17718043	17718043	+	Missense_Mutation	SNP	T	T	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr17:17718043T>A	ENST00000261646.5	-	15	2805	c.2621A>T	c.(2620-2622)aAg>aTg	p.K874M	SREBF1_ENST00000338854.5_Missense_Mutation_p.K874M|MIR33B_ENST00000385104.1_RNA|SREBF1_ENST00000355815.4_Missense_Mutation_p.K904M|SREBF1_ENST00000395757.1_Missense_Mutation_p.K620M	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	874					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GGCCCACCACTTGGCCACCGG	0.697																																																	0																																										SO:0001583	missense	0			BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.2621A>T	17.37:g.17718043T>A	ENSP00000261646:p.Lys874Met		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.K904M	ENST00000261646.5	37	c.2711	CCDS11189.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	7.822|7.822	0.718050|0.718050	0.15372|0.15372	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161|ENST00000395751	T;T;T;T|.	0.15256|.	2.44;2.44;2.44;2.44|.	5.64|5.64	3.34|3.34	0.38264|0.38264	.|.	0.056266|.	0.64402|.	D|.	0.000002|.	T|T	0.69441|0.69441	0.3111|0.3111	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.85130|.	0.994;0.997;0.993|.	T|T	0.65907|0.65907	-0.6054|-0.6054	10|5	0.66056|.	D|.	0.02|.	-20.9659|-20.9659	9.175|9.175	0.37107|0.37107	0.0:0.1585:0.0:0.8415|0.0:0.1585:0.0:0.8415	.|.	874;904;493|.	P36956;P36956-4;A8MTU8|.	SRBP1_HUMAN;.;.|.	M|H	874;904;874;620;493;711;800|881	ENSP00000345822:K874M;ENSP00000348069:K904M;ENSP00000261646:K874M;ENSP00000379106:K620M|.	ENSP00000261646:K874M|.	K|Q	-|-	2|3	0|2	SREBF1|SREBF1	17658768|17658768	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.105000|0.105000	0.19272|0.19272	2.082000|2.082000	0.41605|0.41605	0.386000|0.386000	0.24997|0.24997	-0.373000|-0.373000	0.07131|0.07131	AAG|CAA	SREBF1	-	NULL	ENSG00000072310		0.697	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF1	HGNC	protein_coding	OTTHUMT00000131771.1		0.00	50	0	T	NM_004176		17718043	-1			no_errors	ENST00000355815	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	A
TAOK2	9344	genome.wustl.edu	37	16	29996571	29996571	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr16:29996571C>T	ENST00000308893.4	+	14	2503	c.1460C>T	c.(1459-1461)gCg>gTg	p.A487V	TAOK2_ENST00000416441.2_Missense_Mutation_p.A314V|TAOK2_ENST00000543033.1_Missense_Mutation_p.A487V|TAOK2_ENST00000279394.3_Missense_Mutation_p.A487V	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	487					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAGGACTCTGCGCTGCGGGAG	0.627																																																	0													70.0	76.0	74.0					16																	29996571		2197	4300	6497	SO:0001583	missense	0			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1460C>T	16.37:g.29996571C>T	ENSP00000310094:p.Ala487Val		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A487V	ENST00000308893.4	37	c.1460	CCDS10663.1	16	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277325	0.80580	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.42513	0.97;0.97;0.97	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.61388	0.2343	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.969;0.975;0.999	P;D;P;P;P	0.71414	0.833;0.973;0.721;0.542;0.883	T	0.58126	-0.7691	9	.	.	.	.	18.2234	0.89909	0.0:1.0:0.0:0.0	.	678;314;487;487;487	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	V	487	ENSP00000310094:A487V;ENSP00000440336:A487V;ENSP00000279394:A487V	.	A	+	2	0	TAOK2	29904072	0.977000	0.34250	0.972000	0.41901	0.541000	0.35023	2.506000	0.45433	2.603000	0.88011	0.563000	0.77884	GCG	TAOK2	-	NULL	ENSG00000149930		0.627	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2		0.00	89	0	C	NM_016151		29996571	+1			no_errors	ENST00000308893	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.996	T
TFPI2	7980	genome.wustl.edu	37	7	93519957	93519957	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr7:93519957G>T	ENST00000222543.5	-	1	346	c.34C>A	c.(34-36)Ctg>Atg	p.L12M	TFPI2_ENST00000545378.1_Missense_Mutation_p.L12M|GNGT1_ENST00000455502.1_Intron|AC002076.10_ENST00000435257.1_RNA	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	12					blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			AAAAGCAGCAGAATCGACAGC	0.697																																																	0													21.0	26.0	25.0					7																	93519957		2182	4275	6457	SO:0001583	missense	0			L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.34C>A	7.37:g.93519957G>T	ENSP00000222543:p.Leu12Met		Q66ME8|Q8NAK6|Q9UC86	Missense_Mutation	SNP	pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.L12M	ENST00000222543.5	37	c.34	CCDS5632.1	7	.	.	.	.	.	.	.	.	.	.	G	15.16	2.749840	0.49257	.	.	ENSG00000105825	ENST00000222543;ENST00000545378	T;T	0.57752	0.54;0.38	3.98	3.08	0.35506	.	0.227359	0.37095	N	0.002254	T	0.61999	0.2392	L	0.49126	1.545	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	T	0.49457	-0.8938	10	0.54805	T	0.06	.	8.1354	0.31052	0.1112:0.0:0.8888:0.0	.	12;12;12	Q8NAK6;F5H3J8;P48307	.;.;TFPI2_HUMAN	M	12	ENSP00000222543:L12M;ENSP00000438861:L12M	ENSP00000222543:L12M	L	-	1	2	TFPI2	93357893	0.866000	0.29940	0.086000	0.20670	0.031000	0.12232	0.990000	0.29642	1.230000	0.43646	0.313000	0.20887	CTG	TFPI2	-	pirsf_Prot_inhib_I2_TFPI	ENSG00000105825		0.697	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPI2	HGNC	protein_coding	OTTHUMT00000254720.2	-	0.00	18	0	G	NM_006528		93519957	-1	tier1	-	no_errors	ENST00000222543	ensembl	human	known	74_37	missense	45.83	13	11	SNP	0.113	T
TP53	7157	genome.wustl.edu	37	17	7578493	7578493	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr17:7578493C>T	ENST00000269305.4	-	5	626	c.437G>A	c.(436-438)tGg>tAg	p.W146*	TP53_ENST00000420246.2_Nonsense_Mutation_p.W146*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W146*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W146*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W146*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.W146*	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	146	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		W -> C (in a sporadic cancer; somatic mutation).|W -> G (in sporadic cancers; somatic mutation).|W -> L (in sporadic cancers; somatic mutation).|W -> R (in sporadic cancers; somatic mutation).|W -> S (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.W146*(33)|p.0?(8)|p.W146S(4)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.W14S(1)|p.Q144fs*16(1)|p.W146fs*1(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.W53S(1)|p.V143_S149del(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)	GGAATCAACCCACAGCTGCAC	0.602		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"""	55	Substitution - Nonsense(33)|Whole gene deletion(8)|Substitution - Missense(6)|Deletion - Frameshift(4)|Deletion - In frame(3)|Complex - frameshift(1)	large_intestine(10)|urinary_tract(7)|breast(7)|haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(4)|bone(4)|upper_aerodigestive_tract(3)|oesophagus(3)|soft_tissue(2)|liver(2)|ovary(2)|stomach(1)|peritoneum(1)|lung(1)|skin(1)|prostate(1)											57.0	57.0	57.0					17																	7578493		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.437G>A	17.37:g.7578493C>T	ENSP00000269305:p.Trp146*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.W146*	ENST00000269305.4	37	c.437	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037100	0.35893	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	.	.	.	5.48	1.18	0.20946	.	0.722123	0.13656	N	0.371928	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-1.8394	6.1405	0.20257	0.2634:0.5908:0.0:0.1458	.	.	.	.	X	146;146;146;146;146;146;135;53;14;53;14;146	.	ENSP00000269305:W146X	W	-	2	0	TP53	7519218	0.210000	0.23517	0.127000	0.21898	0.057000	0.15508	0.674000	0.25218	0.083000	0.17047	0.655000	0.94253	TGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.602	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	57	0	C	NM_000546		7578493	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	37.93	18	11	SNP	0.248	T
TRIM27	5987	genome.wustl.edu	37	6	28875015	28875015	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr6:28875015G>A	ENST00000377199.3	-	7	1300	c.944C>T	c.(943-945)tCa>tTa	p.S315L	TRIM27_ENST00000377194.3_Missense_Mutation_p.S315L	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	315	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.	Breakpoint for translocation to form the TRIM27/RET oncogene.			Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCACCTACCTGAGTATAACTG	0.358			T	RET	papillary thyroid																																			Dom	yes		6	6p22	5987	tripartite motif-containing 27		E	0													76.0	79.0	78.0					6																	28875015		1511	2709	4220	SO:0001583	missense	0			Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9975	protein-coding gene	gene with protein product		602165	"""ret finger protein"", ""tripartite motif-containing 27"""	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.944C>T	6.37:g.28875015G>A	ENSP00000366404:p.Ser315Leu		A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.S315L	ENST00000377199.3	37	c.944	CCDS4654.1	6	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907445	0.52333	.	.	ENSG00000204713	ENST00000377199;ENST00000377194	T;T	0.60672	0.17;0.17	3.72	3.72	0.42706	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.38548	N	0.001646	T	0.27349	0.0671	N	0.14661	0.345	0.53688	D	0.999972	P;B	0.50528	0.936;0.349	P;B	0.44477	0.451;0.079	T	0.04440	-1.0951	10	0.30078	T	0.28	.	11.305	0.49329	0.0:0.0:1.0:0.0	.	315;315	P14373-2;P14373	.;TRI27_HUMAN	L	315	ENSP00000366404:S315L;ENSP00000366399:S315L	ENSP00000366399:S315L	S	-	2	0	TRIM27	28982994	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.679000	0.54634	2.383000	0.81215	0.655000	0.94253	TCA	TRIM27	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000204713		0.358	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM27	HGNC	protein_coding	OTTHUMT00000076442.2	-	0.00	92	0	G	NM_030950		28875015	-1	tier1	-	no_errors	ENST00000377199	ensembl	human	known	74_37	missense	16.28	36	7	SNP	1.000	A
TROVE2	6738	genome.wustl.edu	37	1	193054347	193054347	+	3'UTR	DEL	A	A	-	rs567626813|rs56152513		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:193054347delA	ENST00000367446.3	+	0	2313				TROVE2_ENST00000367445.3_Intron|TROVE2_ENST00000367443.1_Intron|TROVE2_ENST00000432079.1_3'UTR|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367444.3_Intron	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2						cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						CCAAGGGGGTAAAAAAAAAAA	0.299																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.*486A>-	1.37:g.193054347delA			B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	RNA	DEL	-	NULL	ENST00000367446.3	37	NULL	CCDS1379.1	1																																																																																			TROVE2	-	-	ENSG00000116747		0.299	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROVE2	HGNC	protein_coding	OTTHUMT00000086688.1		0.00	39	0	A	NM_004600		193054347	+1	tier1		no_errors	ENST00000460715	ensembl	human	known	74_37	rna	7.14	26	2	DEL	0.000	-
UHMK1	127933	genome.wustl.edu	37	1	162492706	162492706	+	3'UTR	SNP	G	G	C			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:162492706G>C	ENST00000489294.1	+	0	1784				UHMK1_ENST00000538489.1_3'UTR|UHMK1_ENST00000545294.1_3'UTR|UHMK1_ENST00000282169.8_3'UTR	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1						cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GTTAGGTTTGGTGACATCATT	0.318																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"""RNA binding motif (RRM) containing"""	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.*366G>C	1.37:g.162492706G>C			A8K8K4|G3V1M1|Q96C22	RNA	SNP	-	NULL	ENST00000489294.1	37	NULL	CCDS1239.1	1																																																																																			UHMK1	-	-	ENSG00000152332		0.318	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHMK1	HGNC	protein_coding	OTTHUMT00000076788.1	-	0.00	173	0	G	NM_175866		162492706	+1	tier1	-	no_errors	ENST00000282169	ensembl	human	known	74_37	rna	9.41	77	8	SNP	1.000	C
IFI35	3430	genome.wustl.edu	37	17	41168411	41168411	+	IGR	SNP	C	C	G			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr17:41168411C>G	ENST00000415816.2	+	0	1241				VAT1_ENST00000355653.3_Silent_p.L337L|VAT1_ENST00000587173.1_Silent_p.L269L|VAT1_ENST00000420567.3_Silent_p.L203L	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35						cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		CACCACTGACCAGCTCCACCT	0.602																																																	0													67.0	60.0	62.0					17																	41168411		2203	4300	6503	SO:0001628	intergenic_variant	0			BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720		17.37:g.41168411C>G			C9JGX1|Q92984|Q99537|Q9BV98	Silent	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.L337	ENST00000415816.2	37	c.1011		17																																																																																			VAT1	-	smart_PKS_ER	ENSG00000108828		0.602	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	VAT1	HGNC	protein_coding	OTTHUMT00000395851.1	-	0.00	44	0	C	NM_005533		41168411	-1	tier1	-	no_errors	ENST00000355653	ensembl	human	known	74_37	silent	19.05	17	4	SNP	0.997	G
XPO4	64328	genome.wustl.edu	37	13	21374323	21374323	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr13:21374323G>T	ENST00000255305.6	-	15	2190	c.2119C>A	c.(2119-2121)Ctt>Att	p.L707I	XPO4_ENST00000400602.2_Missense_Mutation_p.L707I			Q9C0E2	XPO4_HUMAN	exportin 4	707					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AAAGTGACAAGGAGCTGCACA	0.453																																																	0													101.0	98.0	99.0					13																	21374323		1996	4170	6166	SO:0001583	missense	0			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.2119C>A	13.37:g.21374323G>T	ENSP00000255305:p.Leu707Ile		Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L707I	ENST00000255305.6	37	c.2119	CCDS41872.1	13	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845220	0.91197	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.76060	-0.99;-0.99	5.8	4.95	0.65309	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83746	0.5321	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	D	0.71184	0.972	D	0.83582	0.0118	10	0.48119	T	0.1	-14.7825	15.1635	0.72803	0.0684:0.0:0.9316:0.0	.	707	Q9C0E2	XPO4_HUMAN	I	707;577;707	ENSP00000383444:L707I;ENSP00000255305:L707I	ENSP00000255305:L707I	L	-	1	0	XPO4	20272323	1.000000	0.71417	0.980000	0.43619	0.969000	0.65631	6.069000	0.71209	2.744000	0.94065	0.655000	0.94253	CTT	XPO4	-	superfamily_ARM-type_fold	ENSG00000132953		0.453	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	XPO4	HGNC	protein_coding	OTTHUMT00000044096.1	-	0.00	86	0	G	NM_022459		21374323	-1	tier1	-	no_errors	ENST00000255305	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	T
YTHDC1	91746	genome.wustl.edu	37	4	69189889	69189889	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr4:69189889G>T	ENST00000344157.4	-	10	1737	c.1402C>A	c.(1402-1404)Cat>Aat	p.H468N	YTHDC1_ENST00000579690.1_Missense_Mutation_p.H468N|YTHDC1_ENST00000355665.3_Missense_Mutation_p.H450N	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	468	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ACTGGTTTATGTTCATTCCAA	0.353																																																	0													146.0	143.0	144.0					4																	69189889		2203	4300	6503	SO:0001583	missense	0			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1402C>A	4.37:g.69189889G>T	ENSP00000339245:p.His468Asn		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.H468N	ENST00000344157.4	37	c.1402	CCDS33992.1	4	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391085	0.62066	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.25414	1.8;1.8	5.67	5.67	0.87782	YTH domain (2);	0.000000	0.85682	D	0.000000	T	0.21921	0.0528	N	0.00783	-1.19	0.80722	D	1	P;B	0.48407	0.91;0.006	D;B	0.74023	0.982;0.08	T	0.47849	-0.9085	10	0.09084	T	0.74	.	20.1169	0.97940	0.0:0.0:1.0:0.0	.	450;468	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	N	468;450	ENSP00000339245:H468N;ENSP00000347888:H450N	ENSP00000339245:H468N	H	-	1	0	YTHDC1	68872484	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.449000	0.80643	2.835000	0.97688	0.591000	0.81541	CAT	YTHDC1	-	pfam_YTH_domain,pfscan_YTH_domain	ENSG00000083896		0.353	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YTHDC1	HGNC	protein_coding	OTTHUMT00000251437.1	-	0.00	124	0	G	NM_133370		69189889	-1	tier1	-	no_errors	ENST00000344157	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T
ZFPM2	23414	genome.wustl.edu	37	8	106431482	106431482	+	Missense_Mutation	SNP	G	G	C			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr8:106431482G>C	ENST00000407775.2	+	2	401	c.151G>C	c.(151-153)Ggg>Cgg	p.G51R	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	51					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CACAGAATTTGGGCCTGAAAA	0.388																																																	0													111.0	110.0	110.0					8																	106431482		1857	4093	5950	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.151G>C	8.37:g.106431482G>C	ENSP00000384179:p.Gly51Arg		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G51R	ENST00000407775.2	37	c.151	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596443	0.46318	.	.	ENSG00000169946	ENST00000407775	T	0.18657	2.2	5.46	4.57	0.56435	.	0.191546	0.32093	N	0.006600	T	0.15825	0.0381	N	0.14661	0.345	0.80722	D	1	B	0.23249	0.082	B	0.27796	0.083	T	0.04191	-1.0970	10	0.46703	T	0.11	.	16.1687	0.81788	0.0:0.1337:0.8663:0.0	.	51	Q8WW38	FOG2_HUMAN	R	51	ENSP00000384179:G51R	ENSP00000384179:G51R	G	+	1	0	ZFPM2	106500658	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.543000	0.82106	1.293000	0.44690	0.655000	0.94253	GGG	ZFPM2	-	NULL	ENSG00000169946		0.388	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	-	0.00	50	0	G			106431482	+1	tier1	-	no_errors	ENST00000407775	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	C
ZHX3	23051	genome.wustl.edu	37	20	39831306	39831306	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr20:39831306G>T	ENST00000309060.3	-	4	2666	c.2251C>A	c.(2251-2253)Cct>Act	p.P751T	ZHX3_ENST00000540170.1_Missense_Mutation_p.P751T|ZHX3_ENST00000432768.2_Missense_Mutation_p.P751T|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.P751T|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.P751T|ZHX3_ENST00000560361.1_Missense_Mutation_p.P751T			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	751					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TCATCCTCAGGGTCACAGGCA	0.552																																																	0													80.0	78.0	79.0					20																	39831306		2203	4300	6503	SO:0001583	missense	0			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2251C>A	20.37:g.39831306G>T	ENSP00000312222:p.Pro751Thr		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.P751T	ENST00000309060.3	37	c.2251	CCDS13315.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.862|3.862	-0.029616|-0.029616	0.07589|0.07589	.|.	.|.	ENSG00000174306|ENSG00000174306	ENST00000421422|ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262	.|T;T;T	.|0.12255	.|2.92;2.92;2.7	6.07|6.07	4.05|4.05	0.47172|0.47172	.|.	0.420224|0.420224	0.27433|0.27433	N|N	0.019393|0.019393	T|T	0.13628|0.13628	0.0330|0.0330	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.23249	.|0.0;0.0;0.082	.|B;B;B	.|0.21708	.|0.001;0.002;0.036	T|T	0.19778|0.19778	-1.0295|-1.0295	6|10	.|0.40728	.|T	.|0.16	-5.6097|-5.6097	6.7666|6.7666	0.23571|0.23571	0.0726:0.1194:0.6696:0.1384|0.0726:0.1194:0.6696:0.1384	.|.	.|751;751;751	.|A8K8Q0;Q9H4I2;F5H820	.|.;ZHX3_HUMAN;.	H|T	459|751;751;751;751;529	.|ENSP00000362360:P751T;ENSP00000442290:P751T;ENSP00000443783:P751T	.|ENSP00000312222:P751T	P|P	-|-	2|1	0|0	ZHX3|ZHX3	39264720|39264720	0.001000|0.001000	0.12720|0.12720	0.831000|0.831000	0.32960|0.32960	0.483000|0.483000	0.33249|0.33249	0.934000|0.934000	0.28910|0.28910	0.821000|0.821000	0.34540|0.34540	0.655000|0.655000	0.94253|0.94253	CCC|CCT	ZHX3	-	NULL	ENSG00000174306		0.552	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZHX3	HGNC	protein_coding	OTTHUMT00000079262.3	-	0.00	58	0	G	NM_015035		39831306	-1	tier1	-	no_errors	ENST00000309060	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.001	T
ZIM2	23619	genome.wustl.edu	37	19	57290775	57290775	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr19:57290775T>G	ENST00000391708.3	-	11	1254	c.712A>C	c.(712-714)Aca>Cca	p.T238P	ZIM2_ENST00000601070.1_Missense_Mutation_p.T238P|ZIM2_ENST00000599935.1_Missense_Mutation_p.T238P|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.T238P|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.T238P	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	238	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CTGCTGTCTGTCTCCATTGCA	0.502																																																	0													246.0	185.0	206.0					19																	57290775		2203	4300	6503	SO:0001583	missense	0			AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.712A>C	19.37:g.57290775T>G	ENSP00000375589:p.Thr238Pro		Q2M3K1	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T238P	ENST00000391708.3	37	c.712	CCDS33123.1	19	.	.	.	.	.	.	.	.	.	.	T	12.06	1.826015	0.32237	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.04502	3.61;3.61	4.57	1.24	0.21308	Krueppel-associated box (1);	.	.	.	.	T	0.01558	0.0050	N	0.01168	-0.975	.	.	.	B	0.25904	0.137	B	0.23018	0.043	T	0.42258	-0.9462	8	0.27082	T	0.32	.	3.8163	0.08817	0.0:0.5684:0.2049:0.2268	.	238	Q9NZV7	ZIM2_HUMAN	P	238	ENSP00000375589:T238P;ENSP00000221722:T238P	ENSP00000221722:T238P	T	-	1	0	ZIM2	61982587	0.000000	0.05858	0.037000	0.18230	0.022000	0.10575	0.451000	0.21779	0.617000	0.30160	-0.242000	0.12053	ACA	ZIM2	-	pfscan_Krueppel-associated_box	ENSG00000269699		0.502	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIM2	HGNC	protein_coding	OTTHUMT00000416094.2	-	0.00	89	0	T			57290775	-1	tier1	-	no_errors	ENST00000221722	ensembl	human	known	74_37	missense	13.24	59	9	SNP	0.004	G
ZNF488	118738	genome.wustl.edu	37	10	48370969	48370969	+	Missense_Mutation	SNP	A	A	G	rs140082282		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr10:48370969A>G	ENST00000395702.2	+	2	664	c.437A>G	c.(436-438)aAa>aGa	p.K146R	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Missense_Mutation_p.K39R			Q96MN9	ZN488_HUMAN	zinc finger protein 488	146					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						GCTGGCAGCAAAGTCTTCTCT	0.607																																																	0									ARG/LYS	0,4406		0,0,2203	49.0	49.0	49.0		437	-0.3	0.0	10	dbSNP_134	49	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF488	NM_153034.2	26	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	146/341	48370969	1,13005	2203	4300	6503	SO:0001583	missense	0			AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"""Zinc fingers, C2H2-type"""	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.437A>G	10.37:g.48370969A>G	ENSP00000379054:p.Lys146Arg		Q05CE0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K146R	ENST00000395702.2	37	c.437	CCDS7217.1	10	.	.	.	.	.	.	.	.	.	.	a	5.496	0.276492	0.10403	0.0	1.16E-4	ENSG00000165388	ENST00000395702	T	0.22134	1.97	5.32	-0.325	0.12702	.	0.797688	0.11158	U	0.593394	T	0.09598	0.0236	N	0.08118	0	0.09310	N	1	B	0.25521	0.128	B	0.23574	0.047	T	0.29518	-1.0009	10	0.48119	T	0.1	.	5.9667	0.19328	0.3972:0.4562:0.0:0.1466	.	146	Q96MN9	ZN488_HUMAN	R	146	ENSP00000379054:K146R	ENSP00000379054:K146R	K	+	2	0	ZNF488	47990975	0.104000	0.21937	0.000000	0.03702	0.265000	0.26407	0.374000	0.20501	-0.352000	0.08237	-1.504000	0.00955	AAA	ZNF488	-	NULL	ENSG00000165388		0.607	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF488	HGNC	protein_coding	OTTHUMT00000314632.1	-	0.00	72	0	A	NM_153034		48370969	+1	tier1	rs140082282	no_errors	ENST00000395702	ensembl	human	known	74_37	missense	33.33	18	9	SNP	0.003	G
ZNF613	79898	genome.wustl.edu	37	19	52447931	52447931	+	Silent	SNP	T	T	C			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr19:52447931T>C	ENST00000293471.6	+	6	1474	c.795T>C	c.(793-795)tgT>tgC	p.C265C	ZNF613_ENST00000391794.4_Silent_p.C229C	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GCACTGAATGTGACAAAGCAT	0.443																																																	0													83.0	90.0	88.0					19																	52447931		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.795T>C	19.37:g.52447931T>C			Q96SS9	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.C265	ENST00000293471.6	37	c.795	CCDS33089.1	19																																																																																			ZNF613	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000176024		0.443	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF613	HGNC	protein_coding	OTTHUMT00000461104.2	-	0.00	73	0	T	NM_024840		52447931	+1	tier1	-	no_errors	ENST00000293471	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.964	C
ZNF671	79891	genome.wustl.edu	37	19	58232292	58232292	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr19:58232292G>T	ENST00000317398.6	-	4	1257	c.1162C>A	c.(1162-1164)Cag>Aag	p.Q388K	ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.Q290K	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGAACTTCCTGGTGTCGAATG	0.483																																																	0													86.0	71.0	76.0					19																	58232292		2203	4300	6503	SO:0001583	missense	0				CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.1162C>A	19.37:g.58232292G>T	ENSP00000321848:p.Gln388Lys		A6NF07|Q9H5E9	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.Q388K	ENST00000317398.6	37	c.1162	CCDS12961.1	19	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473985	0.63737	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.17528	2.27;2.27	1.88	0.772	0.18510	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07863	0.0197	N	0.05441	-0.05	0.21841	N	0.999511	B	0.31680	0.335	B	0.28385	0.089	T	0.31447	-0.9943	9	0.46703	T	0.11	.	7.4335	0.27141	0.0:0.0:0.7399:0.2601	.	388	Q8TAW3	ZN671_HUMAN	K	388;290	ENSP00000321848:Q388K;ENSP00000338670:Q290K	ENSP00000321848:Q388K	Q	-	1	0	ZNF671	62924104	0.000000	0.05858	0.015000	0.15790	0.971000	0.66376	0.433000	0.21477	0.333000	0.23563	0.467000	0.42956	CAG	ZNF671	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000083814		0.483	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF671	HGNC	protein_coding	OTTHUMT00000466817.1	-	0.00	72	0	G	NM_024833		58232292	-1	tier1	-	no_errors	ENST00000317398	ensembl	human	known	74_37	missense	15.56	38	7	SNP	0.960	T
