#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
ABCA8	10351	genome.wustl.edu	37	17	66871852	66871852	+	Silent	SNP	T	T	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:66871852T>G	ENST00000269080.2	-	34	4410	c.4273A>C	c.(4273-4275)Aga>Cga	p.R1425R	ABCA8_ENST00000430352.2_Silent_p.R1465R|ABCA8_ENST00000586539.1_Silent_p.R1465R	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1425	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCCGTGTTTCTAAAGGTGGCC	0.468																																																	0													73.0	58.0	63.0					17																	66871852		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4273A>C	17.37:g.66871852T>G			A1L3U3|C9JQE6|Q86WW0	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R1465	ENST00000269080.2	37	c.4393	CCDS11680.1	17																																																																																			ABCA8	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000141338		0.468	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	-	0.00	61	0	T	NM_007168		66871852	-1	tier1	-	no_errors	ENST00000430352	ensembl	human	known	74_37	silent	45.24	23	19	SNP	0.642	G
ACSS3	79611	genome.wustl.edu	37	12	81472208	81472208	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:81472208G>T	ENST00000548058.1	+	1	1219	c.309G>T	c.(307-309)agG>agT	p.R103S	ACSS3_ENST00000261206.3_Splice_Site			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	103						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CCTCTACCAGGTGGTGAGTGA	0.572																																																	0													34.0	34.0	34.0					12																	81472208		1931	3860	5791	SO:0001583	missense	0				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.309G>T	12.37:g.81472208G>T	ENSP00000449535:p.Arg103Ser		Q8NC66	Splice_Site	SNP	-	e1+1	ENST00000548058.1	37	c.308+1	CCDS9022.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.720|0.720	-0.783824|-0.783824	0.02907|0.02907	.|.	.|.	ENSG00000111058|ENSG00000111058	ENST00000261206|ENST00000548058	.|T	.|0.10960	.|2.82	5.03|5.03	-6.01|-6.01	0.02199|0.02199	.|Acyl-CoA synthase, domain of unknown function DUF3448 (1);	.|0.513279	.|0.21855	.|N	.|0.068117	.|T	.|0.07593	.|0.0191	L|L	0.39085|0.39085	1.19|1.19	0.48185|0.48185	D|D	0.999608|0.999608	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	.|T	.|0.08848	.|-1.0702	.|10	.|0.38643	.|T	.|0.18	.|-6.1027	13.2809|13.2809	0.60214|0.60214	0.0:0.7077:0.111:0.1813|0.0:0.7077:0.111:0.1813	.|.	.|103	.|Q9H6R3	.|ACSS3_HUMAN	.|S	-1|103	.|ENSP00000449535:R103S	.|ENSP00000449535:R103S	.|R	+|+	.|3	.|2	ACSS3|ACSS3	79996339|79996339	0.422000|0.422000	0.25473|0.25473	0.350000|0.350000	0.25708|0.25708	0.304000|0.304000	0.27724|0.27724	-1.154000|-1.154000	0.03166|0.03166	-1.927000|-1.927000	0.01060|0.01060	-0.986000|-0.986000	0.02555|0.02555	.|AGG	ACSS3	-	-	ENSG00000111058		0.572	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	-	0.00	46	0	G	NM_024560		81472208	+1	tier1	-	no_errors	ENST00000261206	ensembl	human	novel	74_37	splice_site	11.76	30	4	SNP	0.018	T
ACADS	35	genome.wustl.edu	37	12	121176101	121176101	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:121176101G>T	ENST00000242592.4	+	6	794	c.643G>T	c.(643-645)Gtc>Ttc	p.V215F	ACADS_ENST00000411593.2_Missense_Mutation_p.V211F|RP11-173P15.7_ENST00000542620.1_RNA	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	215					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	TGCCTTCCTGGTCCCCATGCC	0.607																																																	0													68.0	68.0	68.0					12																	121176101		2203	4300	6503	SO:0001583	missense	0			M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"""acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"""			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.643G>T	12.37:g.121176101G>T	ENSP00000242592:p.Val215Phe		P78331	Missense_Mutation	SNP	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.V215F	ENST00000242592.4	37	c.643	CCDS9207.1	12	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342533	0.81911	.	.	ENSG00000122971	ENST00000242592;ENST00000411593	D;D	0.99660	-6.32;-5.38	4.64	4.64	0.57946	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.000000	0.85682	D	0.000000	D	0.99616	0.9860	M	0.93462	3.42	0.80722	D	1	D;P;P	0.58268	0.982;0.939;0.939	P;P;P	0.55391	0.775;0.575;0.575	D	0.97776	1.0229	10	0.87932	D	0	.	17.4923	0.87708	0.0:0.0:1.0:0.0	.	211;215;215	E9PE82;E5KSD5;P16219	.;.;ACADS_HUMAN	F	215;211	ENSP00000242592:V215F;ENSP00000401045:V211F	ENSP00000242592:V215F	V	+	1	0	ACADS	119660484	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.370000	0.59517	2.145000	0.66743	0.462000	0.41574	GTC	ACADS	-	superfamily_AcylCoA_DH/oxidase_NM_dom	ENSG00000122971		0.607	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADS	HGNC	protein_coding	OTTHUMT00000402861.1		0.00	84	0	G	NM_000017		121176101	+1			no_errors	ENST00000242592	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T
ADAM29	11086	genome.wustl.edu	37	4	175896934	175896934	+	Missense_Mutation	SNP	G	G	C			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr4:175896934G>C	ENST00000359240.3	+	5	928	c.258G>C	c.(256-258)caG>caC	p.Q86H	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.Q86H|ADAM29_ENST00000514159.1_Missense_Mutation_p.Q86H|ADAM29_ENST00000445694.1_Missense_Mutation_p.Q86H	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	86					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACACAGACCAGGGTGCTATCC	0.473																																					Ovarian(140;1727 1835 21805 25838 41440)												0													48.0	48.0	48.0					4																	175896934		2203	4300	6503	SO:0001583	missense	0			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.258G>C	4.37:g.175896934G>C	ENSP00000352177:p.Gln86His		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.Q86H	ENST00000359240.3	37	c.258	CCDS3823.1	4	.	.	.	.	.	.	.	.	.	.	G	14.08	2.430126	0.43122	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000502940;ENST00000404450;ENST00000514159	T;T;T;T;T	0.06068	3.35;3.35;3.35;3.35;3.35	3.77	-1.16	0.09678	Peptidase M12B, propeptide (1);	0.606157	0.12714	U	0.445253	T	0.18923	0.0454	M	0.81239	2.535	0.23669	N	0.997158	D	0.89917	1.0	D	0.85130	0.997	T	0.07654	-1.0761	9	.	.	.	.	3.5078	0.07698	0.4164:0.0:0.4086:0.175	.	86	Q9UKF5	ADA29_HUMAN	H	86	ENSP00000352177:Q86H;ENSP00000414544:Q86H;ENSP00000427674:Q86H;ENSP00000384229:Q86H;ENSP00000423517:Q86H	.	Q	+	3	2	ADAM29	176133509	0.000000	0.05858	0.873000	0.34254	0.618000	0.37518	-0.805000	0.04530	-0.303000	0.08856	-0.156000	0.13503	CAG	ADAM29	-	pfam_Peptidase_M12B_N	ENSG00000168594		0.473	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ADAM29	HGNC	protein_coding			0.00	41	0	G			175896934	+1			no_errors	ENST00000359240	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.888	C
ADAM29	11086	genome.wustl.edu	37	4	175897651	175897651	+	Silent	SNP	T	T	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr4:175897651T>G	ENST00000359240.3	+	5	1645	c.975T>G	c.(973-975)acT>acG	p.T325T	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Silent_p.T325T|ADAM29_ENST00000514159.1_Silent_p.T325T|ADAM29_ENST00000445694.1_Silent_p.T325T	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	325	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTTTGGGCACTTTTTCAATTG	0.403																																					Ovarian(140;1727 1835 21805 25838 41440)												0													154.0	153.0	153.0					4																	175897651		2203	4300	6503	SO:0001819	synonymous_variant	0			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.975T>G	4.37:g.175897651T>G			Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.T325	ENST00000359240.3	37	c.975	CCDS3823.1	4																																																																																			ADAM29	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000168594		0.403	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ADAM29	HGNC	protein_coding		-	0.00	37	0	T			175897651	+1	tier1	-	no_errors	ENST00000359240	ensembl	human	known	74_37	silent	72.00	7	18	SNP	0.000	G
ADAMTS1	9510	genome.wustl.edu	37	21	28216841	28216841	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr21:28216841C>T	ENST00000284984.3	-	1	887	c.433G>A	c.(433-435)Gtg>Atg	p.V145M		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	145					heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GCGCCGCGCACGCCCTCGCAG	0.721											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													10.0	11.0	11.0					21																	28216841		2188	4283	6471	SO:0001583	missense	0			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.433G>A	21.37:g.28216841C>T	ENSP00000284984:p.Val145Met	800	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS	p.V145M	ENST00000284984.3	37	c.433	CCDS33524.1	21	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257247	0.59321	.	.	ENSG00000154734	ENST00000284984	T	0.05786	3.39	4.03	1.02	0.19986	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.03783	0.0107	N	0.16130	0.375	0.32529	N	0.535265	B	0.24823	0.112	B	0.25884	0.064	T	0.19386	-1.0307	9	0.52906	T	0.07	.	5.4245	0.16417	0.0:0.3276:0.3795:0.2929	.	145	Q9UHI8	ATS1_HUMAN	M	145	ENSP00000284984:V145M	ENSP00000284984:V145M	V	-	1	0	ADAMTS1	27138712	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	1.624000	0.37018	0.900000	0.36469	0.455000	0.32223	GTG	ADAMTS1	-	pfam_Peptidase_M12B_N	ENSG00000154734		0.721	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	HGNC	protein_coding	OTTHUMT00000171650.2		0.00	43	0	C			28216841	-1			no_errors	ENST00000284984	ensembl	human	known	74_37	missense	10.00	18	2	SNP	0.999	T
ADCY5	111	genome.wustl.edu	37	3	123049811	123049811	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:123049811G>A	ENST00000462833.1	-	5	2783	c.1571C>T	c.(1570-1572)tCg>tTg	p.S524L	ADCY5_ENST00000309879.5_Missense_Mutation_p.S174L|ADCY5_ENST00000491190.1_Missense_Mutation_p.S157L	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	524	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AGGCAGCCCCGAGACGCAGTA	0.483																																																	0													77.0	69.0	72.0					3																	123049811		2203	4300	6503	SO:0001583	missense	0			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1571C>T	3.37:g.123049811G>A	ENSP00000419361:p.Ser524Leu		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.S524L	ENST00000462833.1	37	c.1571	CCDS3022.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.905923	0.97087	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617;ENST00000483566	D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91	5.78	5.78	0.91487	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000003	D	0.96009	0.8700	H	0.98664	4.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97240	0.9890	10	0.87932	D	0	.	20.0204	0.97499	0.0:0.0:1.0:0.0	.	524;157	O95622;B3KWA8	ADCY5_HUMAN;.	L	524;157;174;83;83	ENSP00000419361:S524L;ENSP00000418537:S157L;ENSP00000308685:S174L;ENSP00000420082:S83L;ENSP00000420252:S83L	ENSP00000308685:S174L	S	-	2	0	ADCY5	124532501	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	9.869000	0.99810	2.729000	0.93468	0.650000	0.86243	TCG	ADCY5	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000173175		0.483	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY5	HGNC	protein_coding	OTTHUMT00000355889.4	-	0.00	68	0	G	XM_171048		123049811	-1	tier1	-	no_errors	ENST00000462833	ensembl	human	known	74_37	missense	37.14	44	26	SNP	1.000	A
ADCY8	114	genome.wustl.edu	37	8	132052057	132052057	+	Missense_Mutation	SNP	A	A	C			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr8:132052057A>C	ENST00000286355.5	-	1	2615	c.523T>G	c.(523-525)Ttg>Gtg	p.L175V	ADCY8_ENST00000377928.3_Missense_Mutation_p.L175V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	175					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTTTGGCCCAAGAAATAGCGC	0.547										HNSCC(32;0.087)																																							0													74.0	74.0	74.0					8																	132052057		2203	4300	6503	SO:0001583	missense	0			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.523T>G	8.37:g.132052057A>C	ENSP00000286355:p.Leu175Val			Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L175V	ENST00000286355.5	37	c.523	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	A	8.321	0.824230	0.16678	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.65178	-0.14;-0.14	5.25	3.42	0.39159	.	0.096354	0.43579	D	0.000560	T	0.45657	0.1353	L	0.40543	1.245	0.28529	N	0.91267	B;B	0.29037	0.231;0.231	B;B	0.26864	0.074;0.074	T	0.28554	-1.0040	10	0.14252	T	0.57	.	7.5538	0.27812	0.2753:0.0:0.7247:0.0	.	175;175	E7EVL1;P40145	.;ADCY8_HUMAN	V	175	ENSP00000286355:L175V;ENSP00000367161:L175V	ENSP00000286355:L175V	L	-	1	2	ADCY8	132121239	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	1.383000	0.34385	1.202000	0.43218	-0.475000	0.04921	TTG	ADCY8	-	NULL	ENSG00000155897		0.547	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	-	0.00	55	0	A			132052057	-1	tier1	-	no_errors	ENST00000286355	ensembl	human	known	74_37	missense	18.18	63	14	SNP	1.000	C
AEBP2	121536	genome.wustl.edu	37	12	19653105	19653105	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:19653105G>T	ENST00000398864.3	+	5	1275	c.1249G>T	c.(1249-1251)Gct>Tct	p.A417S	AEBP2_ENST00000541908.1_Missense_Mutation_p.A188S|AEBP2_ENST00000266508.9_Missense_Mutation_p.A417S|AEBP2_ENST00000360995.4_Missense_Mutation_p.A201S	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	417	Interaction with SUZ12.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					TAACCTCTCAGCTCATATAGA	0.328																																																	0													69.0	67.0	67.0					12																	19653105		1869	4095	5964	SO:0001583	missense	0				CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.1249G>T	12.37:g.19653105G>T	ENSP00000381840:p.Ala417Ser		Q59FS5|Q6ZN62|Q96BG3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A417S	ENST00000398864.3	37	c.1249	CCDS44841.1	12	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221366	0.58560	.	.	ENSG00000139154	ENST00000541908;ENST00000398864;ENST00000435841;ENST00000266508;ENST00000360995;ENST00000512223;ENST00000398731	T;T;T;T	0.69306	-0.35;-0.21;-0.39;-0.26	4.94	4.94	0.65067	.	.	.	.	.	T	0.58206	0.2106	L	0.36672	1.1	0.46609	D	0.999122	P	0.44090	0.826	B	0.39152	0.292	T	0.59736	-0.7398	9	0.33141	T	0.24	-6.07	18.1518	0.89676	0.0:0.0:1.0:0.0	.	417	Q6ZN18	AEBP2_HUMAN	S	188;417;351;417;201;27;15	ENSP00000437983:A188S;ENSP00000381840:A417S;ENSP00000266508:A417S;ENSP00000354267:A201S	ENSP00000266508:A417S	A	+	1	0	AEBP2	19544372	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.028000	0.76470	2.282000	0.76494	0.561000	0.74099	GCT	AEBP2	-	NULL	ENSG00000139154		0.328	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AEBP2	HGNC	protein_coding	OTTHUMT00000401575.1		0.00	45	0	G	NM_153207		19653105	+1			no_errors	ENST00000398864	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T
AGGF1	55109	genome.wustl.edu	37	5	76331536	76331536	+	Missense_Mutation	SNP	A	A	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:76331536A>G	ENST00000312916.7	+	3	866	c.484A>G	c.(484-486)Aga>Gga	p.R162G	AGGF1_ENST00000506806.1_Missense_Mutation_p.R162G|AGGF1_ENST00000503538.1_3'UTR	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	162					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TGTTAAATATAGACAAGTGGA	0.343																																																	0													84.0	84.0	84.0					5																	76331536		2203	4300	6503	SO:0001583	missense	0			AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.484A>G	5.37:g.76331536A>G	ENSP00000316109:p.Arg162Gly		O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	pfam_FHA_dom,pfam_G_patch_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_G_patch_dom,pfscan_FHA_dom,pfscan_G_patch_dom	p.R162G	ENST00000312916.7	37	c.484	CCDS4035.1	5	.	.	.	.	.	.	.	.	.	.	A	9.009	0.981952	0.18812	.	.	ENSG00000164252	ENST00000312916;ENST00000506806	T;T	0.75938	1.33;-0.98	5.96	1.69	0.24217	.	0.721305	0.13911	N	0.354227	T	0.51244	0.1663	N	0.10874	0.06	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.30149	-0.9988	10	0.20046	T	0.44	-11.606	8.4298	0.32750	0.4618:0.0:0.5382:0.0	.	162;162	Q8N302;Q8N302-3	AGGF1_HUMAN;.	G	162	ENSP00000316109:R162G;ENSP00000424733:R162G	ENSP00000316109:R162G	R	+	1	2	AGGF1	76367292	0.215000	0.23574	0.000000	0.03702	0.639000	0.38242	1.142000	0.31540	0.014000	0.14944	0.528000	0.53228	AGA	AGGF1	-	NULL	ENSG00000164252		0.343	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGGF1	HGNC	protein_coding	OTTHUMT00000219971.2		0.00	63	0	A	NM_018046		76331536	+1			no_errors	ENST00000312916	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.000	G
AKAP11	11215	genome.wustl.edu	37	13	42872778	42872779	+	Frame_Shift_Del	DEL	AC	AC	-	rs2273951	byFrequency	TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr13:42872778_42872779delAC	ENST00000025301.2	+	7	636_637	c.461_462delAC	c.(460-462)tacfs	p.Y154fs		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	154					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GGTATAAGGTACACCTTGGACA	0.401																																																	0																																										SO:0001589	frameshift_variant	0			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.461_462delAC	13.37:g.42872780_42872781delAC	ENSP00000025301:p.Tyr154fs		O75124|Q9NUK7	Frame_Shift_Del	DEL	NULL	p.T155fs	ENST00000025301.2	37	c.461_462	CCDS9383.1	13																																																																																			AKAP11	-	NULL	ENSG00000023516		0.401	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	HGNC	protein_coding	OTTHUMT00000044700.2		0.00	46	0	AC	NM_016248		42872779	+1	tier1		no_errors	ENST00000025301	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	1.000:0.974	-
AKAP17A	8227	genome.wustl.edu	37	X	1712481	1712481	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chrX:1712481G>T	ENST00000313871.3	+	2	322	c.126G>T	c.(124-126)ccG>ccT	p.P42P	AKAP17A_ENST00000381261.3_Silent_p.P42P	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	42					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						TGAAGCAGCCGGGGAAGTCCA	0.587																																																	0													133.0	115.0	121.0					X																	1712481		2203	4296	6499	SO:0001819	synonymous_variant	0			L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.126G>T	X.37:g.1712481G>T			Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Silent	SNP	NULL	p.P42	ENST00000313871.3	37	c.126	CCDS14116.1	X																																																																																			AKAP17A	-	NULL	ENSG00000197976		0.587	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP17A	HGNC	protein_coding	OTTHUMT00000055609.2	-	0.00	115	0	G	NM_005088		1712481	+1	tier1	-	no_errors	ENST00000313871	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.900	T
ANK3	288	genome.wustl.edu	37	10	62023736	62023736	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:62023736C>T	ENST00000280772.2	-	6	747	c.556G>A	c.(556-558)Gac>Aac	p.D186N	ANK3_ENST00000503366.1_Missense_Mutation_p.D169N|ANK3_ENST00000373827.2_Missense_Mutation_p.D180N	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	186					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACGACTTGGTCGTGACCTTGT	0.478																																																	0													88.0	72.0	77.0					10																	62023736		2203	4300	6503	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.556G>A	10.37:g.62023736C>T	ENSP00000280772:p.Asp186Asn		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.D186N	ENST00000280772.2	37	c.556	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863050	0.51482	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000503925	T;T;T;T	0.64438	-0.1;0.65;2.42;2.43	5.09	4.18	0.49190	Ankyrin repeat-containing domain (4);	0.000000	0.40908	D	0.000989	T	0.42787	0.1218	L	0.31420	0.93	0.80722	D	1	B;B;B	0.30741	0.293;0.16;0.159	B;B;B	0.23150	0.044;0.042;0.03	T	0.39187	-0.9626	10	0.02654	T	1	.	13.5162	0.61541	0.0:0.9249:0.0:0.0751	.	169;180;186	E9PE32;Q5CZH9;Q12955	.;.;ANK3_HUMAN	N	186;180;169;148;160	ENSP00000280772:D186N;ENSP00000362933:D180N;ENSP00000425236:D169N;ENSP00000426011:D160N	ENSP00000280772:D186N	D	-	1	0	ANK3	61693742	1.000000	0.71417	0.850000	0.33497	0.785000	0.44390	4.814000	0.62627	1.366000	0.46076	0.591000	0.81541	GAC	ANK3	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000151150		0.478	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4		0.00	32	0	C	NM_020987		62023736	-1			no_errors	ENST00000280772	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.999	T
ANKRD20A11P	391267	genome.wustl.edu	37	21	15342346	15342346	+	RNA	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr21:15342346C>A	ENST00000344693.5	-	0	736				RNU6-954P_ENST00000411355.1_RNA	NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		CCATACATGTCTTGAGTAAAG	0.348																																																	0																																												0					21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15342346C>A				RNA	SNP	-	NULL	ENST00000344693.5	37	NULL		21																																																																																			ANKRD20A11P	-	-	ENSG00000215559		0.348	ANKRD20A11P-005	KNOWN	basic	processed_transcript	ANKRD20A11P	HGNC	pseudogene	OTTHUMT00000157750.1	-	0.00	160	0	C			15342346	-1	tier1	-	no_errors	ENST00000429521	ensembl	human	known	74_37	rna	32.77	80	39	SNP	0.030	A
ANKRD30A	91074	genome.wustl.edu	37	10	37505290	37505290	+	Missense_Mutation	SNP	A	A	C			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:37505290A>C	ENST00000602533.1	+	32	2982	c.2883A>C	c.(2881-2883)aaA>aaC	p.K961N	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.K1080N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K961N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1017					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGAACCAAAAAGTTAAATGGG	0.308																																																	0													77.0	78.0	78.0					10																	37505290		1831	4078	5909	SO:0001583	missense	0			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2883A>C	10.37:g.37505290A>C	ENSP00000473551:p.Lys961Asn		Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K961N	ENST00000602533.1	37	c.2883		10	.	.	.	.	.	.	.	.	.	.	a	1.970	-0.436851	0.04636	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.26373	1.74;1.74	2.63	1.43	0.22495	.	.	.	.	.	T	0.21674	0.0522	M	0.61703	1.905	0.09310	N	1	B	0.26081	0.141	B	0.23018	0.043	T	0.31668	-0.9935	9	0.49607	T	0.09	.	2.0709	0.03614	0.5876:0.0:0.152:0.2603	.	1017	Q9BXX3	AN30A_HUMAN	N	961;1080	ENSP00000354432:K961N;ENSP00000363792:K1080N	ENSP00000354432:K961N	K	+	3	2	ANKRD30A	37545296	0.108000	0.22018	0.003000	0.11579	0.006000	0.05464	0.383000	0.20651	0.121000	0.18284	0.260000	0.18958	AAA	ANKRD30A	-	NULL	ENSG00000148513		0.308	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2	-	0.00	62	0	A	NM_052997		37505290	+1	tier1	-	no_errors	ENST00000361713	ensembl	human	known	74_37	missense	42.86	36	27	SNP	0.146	C
ANO9	338440	genome.wustl.edu	37	11	428561	428561	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:428561C>T	ENST00000332826.6	-	13	1183	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	367					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						AGGAAGGGCACGGCCGAGCTG	0.662																																																	0													27.0	31.0	30.0					11																	428561		2194	4286	6480	SO:0001583	missense	0			U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1099G>A	11.37:g.428561C>T	ENSP00000332788:p.Val367Met		B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	pfam_Anoctamin	p.V367M	ENST00000332826.6	37	c.1099	CCDS31326.1	11	.	.	.	.	.	.	.	.	.	.	C	6.457	0.452479	0.12283	.	.	ENSG00000185101	ENST00000332826	T	0.66280	-0.2	3.5	-4.14	0.03892	.	2.058920	0.02185	N	0.060864	T	0.36826	0.0981	N	0.08118	0	0.09310	N	1	P;D	0.53462	0.645;0.96	B;B	0.38428	0.107;0.273	T	0.40646	-0.9552	10	0.33940	T	0.23	.	7.9742	0.30145	0.3964:0.1228:0.4808:0.0	.	68;367	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	M	367	ENSP00000332788:V367M	ENSP00000332788:V367M	V	-	1	0	ANO9	418561	0.000000	0.05858	0.032000	0.17829	0.151000	0.21798	0.021000	0.13489	-0.770000	0.04614	-1.355000	0.01225	GTG	ANO9	-	pfam_Anoctamin	ENSG00000185101		0.662	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO9	HGNC	protein_coding	OTTHUMT00000384116.1	-	0.00	44	0	C	NM_001012302		428561	-1	tier1	-	no_errors	ENST00000332826	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.007	T
ANKRD42	338699	genome.wustl.edu	37	11	82909574	82909574	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:82909574G>T	ENST00000393392.2	+	2	274	c.112G>T	c.(112-114)Gat>Tat	p.D38Y	ANKRD42_ENST00000531895.1_Missense_Mutation_p.D38Y|ANKRD42_ENST00000533342.1_Missense_Mutation_p.D38Y|ANKRD42_ENST00000393389.3_Missense_Mutation_p.D38Y|ANKRD42_ENST00000260047.6_Missense_Mutation_p.D38Y|ANKRD42_ENST00000526731.1_Missense_Mutation_p.D38Y|ANKRD42_ENST00000528722.1_5'UTR	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	38					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						ACGAGCTGGAGATGTAAAGCA	0.398																																																	0													128.0	113.0	118.0					11																	82909574		2203	4300	6503	SO:0001583	missense	0			AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.112G>T	11.37:g.82909574G>T	ENSP00000377051:p.Asp38Tyr		Q49A49	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.D38Y	ENST00000393392.2	37	c.112	CCDS8265.1	11	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506864	0.64410	.	.	ENSG00000137494	ENST00000545672;ENST00000393389;ENST00000260047;ENST00000526731;ENST00000531895;ENST00000393392;ENST00000533342	T;T;T;T;T;T	0.67698	-0.16;2.4;-0.16;2.4;-0.28;-0.16	5.97	5.07	0.68467	Ankyrin repeat-containing domain (4);	0.086123	0.49916	D	0.000127	T	0.78717	0.4327	M	0.71296	2.17	0.38276	D	0.942307	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	P;D;D;P;D	0.70016	0.907;0.957;0.935;0.907;0.967	T	0.81258	-0.1014	9	.	.	.	-4.8769	11.8833	0.52587	0.1409:0.0:0.8591:0.0	.	38;38;303;129;38	E9PIL2;Q8N9B4-2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;.;ANR42_HUMAN	Y	357;38;38;38;38;38;38	ENSP00000377049:D38Y;ENSP00000260047:D38Y;ENSP00000433585:D38Y;ENSP00000434666:D38Y;ENSP00000377051:D38Y;ENSP00000435790:D38Y	.	D	+	1	0	ANKRD42	82587222	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.915000	0.63355	1.545000	0.49373	-0.136000	0.14681	GAT	ANKRD42	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000137494		0.398	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	ANKRD42	HGNC	protein_coding	OTTHUMT00000392934.1	-	0.00	72	0	G	NM_182603		82909574	+1	tier1	-	no_errors	ENST00000393392	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
APBA2	321	genome.wustl.edu	37	15	29346366	29346366	+	Missense_Mutation	SNP	G	G	T	rs367796388		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:29346366G>T	ENST00000558402.1	+	5	878	c.279G>T	c.(277-279)gaG>gaT	p.E93D	APBA2_ENST00000411764.1_Missense_Mutation_p.E93D|APBA2_ENST00000561069.1_Missense_Mutation_p.E93D|APBA2_ENST00000558330.1_Missense_Mutation_p.E93D|APBA2_ENST00000558259.1_Missense_Mutation_p.E93D			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	93	Poly-Glu.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TCCCTGAGGAGGAGGAGGGCA	0.602																																																	0													148.0	133.0	138.0					15																	29346366		2203	4300	6503	SO:0001583	missense	0			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.279G>T	15.37:g.29346366G>T	ENSP00000453293:p.Glu93Asp		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom	p.E93D	ENST00000558402.1	37	c.279	CCDS10022.1	15	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654547	0.67472	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.50277	0.75	5.25	0.697	0.18081	.	0.000000	0.85682	D	0.000000	T	0.58793	0.2147	M	0.68952	2.095	0.46874	D	0.999235	D;D;D	0.76494	0.999;0.995;0.998	D;D;D	0.77557	0.99;0.98;0.985	T	0.53613	-0.8414	10	0.32370	T	0.25	.	8.0618	0.30638	0.5196:0.0:0.4804:0.0	.	93;93;93	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	D	93	ENSP00000409312:E93D	ENSP00000219865:E93D	E	+	3	2	APBA2	27133658	0.994000	0.37717	0.999000	0.59377	0.981000	0.71138	0.325000	0.19628	0.222000	0.20900	-0.142000	0.14014	GAG	APBA2	-	NULL	ENSG00000034053		0.602	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA2	HGNC	protein_coding	OTTHUMT00000251362.3	-	0.00	56	0	G	NM_005503		29346366	+1	tier1	-	no_errors	ENST00000558259	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.997	T
APLF	200558	genome.wustl.edu	37	2	68805073	68805073	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:68805073G>T	ENST00000303795.4	+	10	1626	c.1455G>T	c.(1453-1455)tgG>tgT	p.W485C	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	485					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						ATTCTGACTGGGAACCAGGAA	0.383																																																	0													134.0	139.0	137.0					2																	68805073		2203	4300	6503	SO:0001583	missense	0			BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.1455G>T	2.37:g.68805073G>T	ENSP00000307004:p.Trp485Cys		A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	pfam_Znf_C2H2_APLF-like,superfamily_SMAD_FHA_domain	p.W485C	ENST00000303795.4	37	c.1455	CCDS1888.1	2	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898065	0.72639	.	.	ENSG00000169621	ENST00000303795	T	0.32988	1.43	5.59	5.59	0.84812	.	0.128167	0.56097	D	0.000026	T	0.56411	0.1983	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.57418	-0.7815	10	0.72032	D	0.01	.	18.3684	0.90399	0.0:0.0:1.0:0.0	.	485	Q8IW19	APLF_HUMAN	C	485	ENSP00000307004:W485C	ENSP00000307004:W485C	W	+	3	0	APLF	68658577	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.548000	0.73896	2.634000	0.89283	0.650000	0.86243	TGG	APLF	-	NULL	ENSG00000169621		0.383	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APLF	HGNC	protein_coding	OTTHUMT00000251759.1		0.00	77	0	G	NM_173545		68805073	+1			no_errors	ENST00000303795	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T
APOL3	80833	genome.wustl.edu	37	22	36538062	36538062	+	Missense_Mutation	SNP	G	G	T	rs368969357		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr22:36538062G>T	ENST00000349314.2	-	3	432	c.395C>A	c.(394-396)aCa>aAa	p.T132K	APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000424878.2_5'UTR|APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000397293.2_Missense_Mutation_p.T61K|APOL3_ENST00000361710.2_5'UTR	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	132					inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						AGCTGCATATGTTCTAAGCTT	0.418																																																	0								G	LYS/THR,,	1,4405	2.1+/-5.4	0,1,2202	66.0	58.0	61.0		395,,	-3.8	0.0	22		61	0,8600		0,0,4300	no	missense,utr-5,utr-5	APOL3	NM_145640.2,NM_145641.2,NM_145642.2	78,,	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging,,	132/403,,	36538062	1,13005	2203	4300	6503	SO:0001583	missense	0			AF305227	CCDS13922.1, CCDS13924.1	22q13.1	2013-01-24			ENSG00000128284	ENSG00000128284		"""Apolipoproteins"""	14868	protein-coding gene	gene with protein product		607253				11374903	Standard	NM_145640		Approved	CG12-1, APOLIII	uc003aot.3	O95236	OTTHUMG00000150632	ENST00000349314.2:c.395C>A	22.37:g.36538062G>T	ENSP00000344577:p.Thr132Lys		B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Missense_Mutation	SNP	pfam_ApoL	p.T132K	ENST00000349314.2	37	c.395	CCDS13922.1	22	.	.	.	.	.	.	.	.	.	.	G	4.522	0.096877	0.08681	2.27E-4	0.0	ENSG00000128284	ENST00000397293;ENST00000349314	T;T	0.03212	4.01;4.01	3.63	-3.76	0.04359	.	2.450170	0.01132	N	0.006003	T	0.02649	0.0080	L	0.27053	0.805	0.09310	N	0.999998	B;B	0.23442	0.085;0.069	B;B	0.25759	0.063;0.037	T	0.41052	-0.9530	10	0.05525	T	0.97	.	5.795	0.18381	0.2135:0.4202:0.3663:0.0	.	132;61	O95236;O95236-2	APOL3_HUMAN;.	K	61;132	ENSP00000380461:T61K;ENSP00000344577:T132K	ENSP00000344577:T132K	T	-	2	0	APOL3	34868008	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.281000	0.18810	-0.523000	0.06409	0.485000	0.47835	ACA	APOL3	-	pfam_ApoL	ENSG00000128284		0.418	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APOL3	HGNC	protein_coding	OTTHUMT00000319268.1	-	0.00	25	0	G	NM_145641		36538062	-1	tier1	-	no_errors	ENST00000349314	ensembl	human	known	74_37	missense	16.67	15	3	SNP	0.000	T
ARF1	375	genome.wustl.edu	37	1	228285661	228285661	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:228285661G>A	ENST00000541182.1	+	5	755	c.493G>A	c.(493-495)Ggg>Agg	p.G165R	ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000272102.5_Missense_Mutation_p.G165R|ARF1_ENST00000540651.1_Missense_Mutation_p.G165R|MIR3620_ENST00000584469.1_RNA|C1orf35_ENST00000472617.1_5'Flank	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	165					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CAGCGGCGACGGGCTCTATGA	0.602																																																	0													66.0	59.0	62.0					1																	228285661		2203	4300	6503	SO:0001583	missense	0			M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"""ADP-ribosylation factors"", ""Endogenous ligands"""	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.493G>A	1.37:g.228285661G>A	ENSP00000440005:p.Gly165Arg		P10947|P32889	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G165R	ENST00000541182.1	37	c.493	CCDS1565.1	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181996	0.78677	.	.	ENSG00000143761	ENST00000272102;ENST00000540651;ENST00000542941;ENST00000541182	D;D;D	0.85861	-2.04;-2.04;-2.04	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000001	D	0.96605	0.8892	H	0.99855	4.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98247	1.0491	10	0.87932	D	0	-22.742	19.4067	0.94649	0.0:0.0:1.0:0.0	.	165	P84077	ARF1_HUMAN	R	165;165;156;165	ENSP00000272102:G165R;ENSP00000442980:G165R;ENSP00000440005:G165R	ENSP00000272102:G165R	G	+	1	0	ARF1	226352284	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	9.483000	0.97937	2.826000	0.97356	0.491000	0.48974	GGG	ARF1	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type	ENSG00000143761		0.602	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ARF1	HGNC	protein_coding	OTTHUMT00000091650.1	-	0.00	50	0	G	NM_001024227		228285661	+1	tier1	-	no_errors	ENST00000272102	ensembl	human	known	74_37	missense	22.45	38	11	SNP	1.000	A
ARHGAP5	394	genome.wustl.edu	37	14	32561644	32561644	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr14:32561644G>T	ENST00000345122.3	+	2	2084	c.1769G>T	c.(1768-1770)aGt>aTt	p.S590I	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.S590I|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.S590I|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.S590I	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	590					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TATCACGATAGTACCAATATA	0.373																																					NSCLC(9;77 350 3443 29227 41353)												0													73.0	72.0	72.0					14																	32561644		2203	4298	6501	SO:0001583	missense	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1769G>T	14.37:g.32561644G>T	ENSP00000371897:p.Ser590Ile		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.S590I	ENST00000345122.3	37	c.1769	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093351	0.56075	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.09445	2.98;2.98;2.98;2.98	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.21921	0.0528	L	0.55481	1.735	0.80722	D	1	P;P	0.42456	0.78;0.673	P;B	0.47981	0.563;0.36	T	0.00043	-1.2223	10	0.51188	T	0.08	.	20.2504	0.98404	0.0:0.0:1.0:0.0	.	590;590	Q13017-2;Q13017	.;RHG05_HUMAN	I	590	ENSP00000452222:S590I;ENSP00000441692:S590I;ENSP00000371897:S590I;ENSP00000393307:S590I	ENSP00000371897:S590I	S	+	2	0	ARHGAP5	31631395	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.735000	0.84939	2.850000	0.98022	0.650000	0.86243	AGT	ARHGAP5	-	NULL	ENSG00000100852		0.373	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	-	0.00	28	0	G	NM_001030055		32561644	+1	tier1	-	no_errors	ENST00000345122	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T
ASB16	92591	genome.wustl.edu	37	17	42253965	42253965	+	Intron	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:42253965C>T	ENST00000293414.1	+	3	653				ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000588785.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ttgtctgtagcggggcttgta	0.507																																																	0																																										SO:0001627	intron_variant	0			AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.570-141C>T	17.37:g.42253965C>T			B2RBC0|Q8WXK0	RNA	SNP	-	NULL	ENST00000293414.1	37	NULL	CCDS11478.1	17																																																																																			ASB16-AS1	-	-	ENSG00000267080		0.507	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB16-AS1	HGNC	protein_coding	OTTHUMT00000457703.1	-	0.00	27	0	C			42253965	-1	tier1	-	no_errors	ENST00000585457	ensembl	human	known	74_37	rna	15.00	17	3	SNP	0.000	T
ASIC1	41	genome.wustl.edu	37	12	50474485	50474485	+	Intron	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:50474485G>T	ENST00000447966.2	+	9	1526				ASIC1_ENST00000552438.1_Intron|ASIC1_ENST00000228468.4_Missense_Mutation_p.R470S	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1						associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	CACCCCAGAGGCCCTTCCCCA	0.557																																																	0													44.0	38.0	40.0					12																	50474485		2203	4300	6503	SO:0001627	intron_variant	0			U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.1297+113G>T	12.37:g.50474485G>T			A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC	p.R470S	ENST00000447966.2	37	c.1410	CCDS44876.1	12	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427926	0.62733	.	.	ENSG00000110881	ENST00000228468	T	0.61392	0.11	5.13	-0.571	0.11749	.	13.657200	0.00166	N	0.000000	T	0.40040	0.1101	.	.	.	0.09310	N	0.99999	B	0.06786	0.001	B	0.09377	0.004	T	0.12400	-1.0549	9	0.30854	T	0.27	7.8017	3.471	0.07567	0.4359:0.0:0.3859:0.1782	.	470	P78348-1	.	S	470	ENSP00000228468:R470S	ENSP00000228468:R470S	R	+	3	2	ACCN2	48760752	0.002000	0.14202	0.001000	0.08648	0.080000	0.17528	0.316000	0.19469	0.027000	0.15297	0.555000	0.69702	AGG	ASIC1	-	pfam_Na+channel_ASC	ENSG00000110881		0.557	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC1	HGNC	protein_coding	OTTHUMT00000406004.2	-	0.00	69	0	G	NM_020039		50474485	+1	tier1	-	no_errors	ENST00000228468	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.000	T
ASPM	259266	genome.wustl.edu	37	1	197074012	197074012	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:197074012G>T	ENST00000367409.4	-	18	4625	c.4369C>A	c.(4369-4371)Cat>Aat	p.H1457N	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1457					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTCTTAAATGCCATTCTCTA	0.284																																																	0													80.0	76.0	77.0					1																	197074012		2203	4296	6499	SO:0001583	missense	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.4369C>A	1.37:g.197074012G>T	ENSP00000356379:p.His1457Asn		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.H1457N	ENST00000367409.4	37	c.4369	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	G	8.888	0.953323	0.18431	.	.	ENSG00000066279	ENST00000367409	T	0.57273	0.41	5.27	0.789	0.18607	.	0.881147	0.10013	N	0.726923	T	0.52058	0.1711	M	0.77616	2.38	0.80722	D	1	P	0.46656	0.882	B	0.42188	0.379	T	0.52525	-0.8564	10	0.29301	T	0.29	.	8.6916	0.34271	0.0712:0.0:0.4452:0.4836	.	1457	Q8IZT6	ASPM_HUMAN	N	1457	ENSP00000356379:H1457N	ENSP00000356379:H1457N	H	-	1	0	ASPM	195340635	0.813000	0.29090	0.349000	0.25694	0.811000	0.45836	1.049000	0.30392	0.267000	0.21916	0.484000	0.47621	CAT	ASPM	-	superfamily_ARM-type_fold,superfamily_P-loop_NTPase	ENSG00000066279		0.284	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1		0.00	26	0	G	NM_018136		197074012	-1			no_errors	ENST00000367409	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.067	T
ASXL1	171023	genome.wustl.edu	37	20	31022853	31022853	+	Missense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr20:31022853C>A	ENST00000375687.4	+	13	2762	c.2338C>A	c.(2338-2340)Cag>Aag	p.Q780K	ASXL1_ENST00000306058.5_Missense_Mutation_p.Q775K	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	780					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.Q780*(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGAGCAGCCTCAGTTGCATCC	0.567			"""F, N, Mis"""		"""MDS, CMML"""																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)											75.0	70.0	72.0					20																	31022853		2203	4300	6503	SO:0001583	missense	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2338C>A	20.37:g.31022853C>A	ENSP00000364839:p.Gln780Lys		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	NULL	p.Q780K	ENST00000375687.4	37	c.2338	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.410400	0.01145	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.19532	2.14;2.14	5.17	-10.3	0.00346	.	2.532820	0.01224	N	0.008197	T	0.05181	0.0138	N	0.01048	-1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23404	-1.0189	10	0.05721	T	0.95	8.6651	10.1287	0.42665	0.2942:0.3274:0.3784:0.0	.	775;780	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	K	780;780;780;701;775	ENSP00000364839:Q780K;ENSP00000305119:Q775K	ENSP00000305119:Q775K	Q	+	1	0	ASXL1	30486514	0.000000	0.05858	0.000000	0.03702	0.726000	0.41606	-1.293000	0.02770	-2.593000	0.00455	-0.266000	0.10368	CAG	ASXL1	-	NULL	ENSG00000171456		0.567	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2		0.00	19	0	C	NM_015338		31022853	+1			no_errors	ENST00000375687	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.000	A
ATM	472	genome.wustl.edu	37	11	108155036	108155036	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:108155036G>T	ENST00000452508.2	+	27	4018	c.3829G>T	c.(3829-3831)Gag>Tag	p.E1277*	ATM_ENST00000278616.4_Nonsense_Mutation_p.E1277*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1277					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TCAGATTCAAGAGGACTGGAA	0.358			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0													58.0	60.0	59.0					11																	108155036		2201	4298	6499	SO:0001587	stop_gained	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3829G>T	11.37:g.108155036G>T	ENSP00000388058:p.Glu1277*		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E1277*	ENST00000452508.2	37	c.3829	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	44	10.756579	0.99462	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	.	.	.	5.68	0.432	0.16529	.	0.380726	0.32218	N	0.006418	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	8.3999	0.32579	0.5852:0.0:0.4148:0.0	.	.	.	.	X	1277	.	ENSP00000278616:E1277X	E	+	1	0	ATM	107660246	0.997000	0.39634	0.987000	0.45799	0.991000	0.79684	1.771000	0.38542	0.176000	0.19873	0.557000	0.71058	GAG	ATM	-	superfamily_ARM-type_fold	ENSG00000149311		0.358	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	-	0.00	78	0	G	NM_000051		108155036	+1	tier1	-	no_errors	ENST00000278616	ensembl	human	known	74_37	nonsense	6.90	54	4	SNP	0.946	T
ATP5F1	515	genome.wustl.edu	37	1	112003600	112003600	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:112003600C>T	ENST00000369722.3	+	7	1361	c.755C>T	c.(754-756)gCa>gTa	p.A252V	ATP5F1_ENST00000483994.1_Missense_Mutation_p.A191V|ATP5F1_ENST00000369721.4_3'UTR	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	252					ATP catabolic process (GO:0006200)|ATP synthesis coupled proton transport (GO:0015986)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AAGGCTCAAGCACAGCCAGTT	0.408																																																	0													52.0	50.0	50.0					1																	112003600		2203	4300	6503	SO:0001583	missense	0			X60221	CCDS836.1	1p13.2	2012-10-12	2010-06-11		ENSG00000116459	ENSG00000116459		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	840	protein-coding gene	gene with protein product		603270	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1"""			1831354	Standard	XM_005270929		Approved		uc001ebc.3	P24539	OTTHUMG00000011745	ENST00000369722.3:c.755C>T	1.37:g.112003600C>T	ENSP00000358737:p.Ala252Val		Q9BQ68|Q9BRU8	Missense_Mutation	SNP	pfam_ATPase_B_chain/sub_B/MI25	p.A252V	ENST00000369722.3	37	c.755	CCDS836.1	1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624271	0.46840	.	.	ENSG00000116459	ENST00000369722;ENST00000483994	T;T	0.34472	1.42;1.36	4.94	3.05	0.35203	.	0.325022	0.35151	N	0.003413	T	0.17323	0.0416	L	0.50333	1.59	0.49582	D	0.999807	B	0.14012	0.009	B	0.12837	0.008	T	0.08106	-1.0738	10	0.72032	D	0.01	.	10.0723	0.42341	0.0:0.7828:0.1388:0.0784	.	252	P24539	AT5F1_HUMAN	V	252;191	ENSP00000358737:A252V;ENSP00000420366:A191V	ENSP00000358737:A252V	A	+	2	0	ATP5F1	111805123	1.000000	0.71417	0.909000	0.35828	0.276000	0.26787	4.794000	0.62482	0.744000	0.32741	-0.136000	0.14681	GCA	ATP5F1	-	NULL	ENSG00000116459		0.408	ATP5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5F1	HGNC	protein_coding	OTTHUMT00000032455.1	-	0.00	35	0	C	NM_001688		112003600	+1	tier1	-	no_errors	ENST00000369722	ensembl	human	known	74_37	missense	36.11	23	13	SNP	1.000	T
ATP5SL	55101	genome.wustl.edu	37	19	41939249	41939249	+	Missense_Mutation	SNP	G	G	A	rs200495447		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:41939249G>A	ENST00000221943.9	-	5	529	c.524C>T	c.(523-525)tCg>tTg	p.S175L	ATP5SL_ENST00000597457.1_Intron|ATP5SL_ENST00000592922.2_Missense_Mutation_p.S148L|ATP5SL_ENST00000589970.1_Intron|ATP5SL_ENST00000301183.11_Intron|ATP5SL_ENST00000417807.3_Missense_Mutation_p.S181L|ATP5SL_ENST00000590641.2_Missense_Mutation_p.S154L|ATP5SL_ENST00000438807.3_Intron|ATP5SL_ENST00000595425.1_Missense_Mutation_p.S148L	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	175						mitochondrion (GO:0005739)				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						CTCCTGCAACGAGTCGGCCAG	0.682																																																	0													36.0	40.0	39.0					19																	41939249		2203	4299	6502	SO:0001583	missense	0			AK001103	CCDS33032.1, CCDS54269.1, CCDS54270.1, CCDS54271.1, CCDS59389.1, CCDS59390.1	19q13.2	2007-12-13				ENSG00000105341			25496	protein-coding gene	gene with protein product						12477932	Standard	NM_001167867		Approved	FLJ10241	uc002oqv.3	Q9NW81		ENST00000221943.9:c.524C>T	19.37:g.41939249G>A	ENSP00000221943:p.Ser175Leu		B4DDC0|B4DMZ4|B4DP55|B4DXE8|F5H4W7|K7EMF6|Q96D43	Missense_Mutation	SNP	NULL	p.S181L	ENST00000221943.9	37	c.542	CCDS33032.1	19	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494592	0.44352	.	.	ENSG00000105341	ENST00000221943;ENST00000438807;ENST00000417807;ENST00000507129	T;T	0.40476	1.03;1.03	4.43	3.31	0.37934	.	0.000000	0.64402	D	0.000003	T	0.60025	0.2237	M	0.76433	2.335	0.09310	N	1	D;D;D;D	0.89917	0.998;1.0;0.999;1.0	P;D;D;D	0.67900	0.805;0.954;0.951;0.951	T	0.50857	-0.8778	10	0.66056	D	0.02	-12.1092	12.0516	0.53509	0.0:0.1753:0.8247:0.0	.	154;148;175;181	B4DFT4;E9PDC6;Q9NW81;F5H4W7	.;.;AT5SL_HUMAN;.	L	175;148;181;251	ENSP00000221943:S175L;ENSP00000403910:S181L	ENSP00000221943:S175L	S	-	2	0	ATP5SL	46631089	0.140000	0.22579	0.046000	0.18839	0.247000	0.25773	1.698000	0.37794	2.448000	0.82819	0.563000	0.77884	TCG	ATP5SL	-	NULL	ENSG00000105341		0.682	ATP5SL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5SL	HGNC	protein_coding	OTTHUMT00000460602.1	-	0.00	77	0	G	NM_018035		41939249	-1	tier1	rs200495447	no_errors	ENST00000417807	ensembl	human	known	74_37	missense	6.52	86	6	SNP	0.012	A
ATP7B	540	genome.wustl.edu	37	13	52534322	52534322	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr13:52534322G>T	ENST00000242839.4	-	7	2239	c.2083C>A	c.(2083-2085)Cta>Ata	p.L695I	ATP7B_ENST00000448424.2_Missense_Mutation_p.L695I|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000417240.2_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.L695I|ATP7B_ENST00000400366.3_Missense_Mutation_p.L584I	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	695					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATGAGATTTAGAATGGACAGT	0.473									Wilson disease																																								0													97.0	97.0	97.0					13																	52534322		1977	4152	6129	SO:0001583	missense	0	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.2083C>A	13.37:g.52534322G>T	ENSP00000242839:p.Leu695Ile		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd	p.L695I	ENST00000242839.4	37	c.2083	CCDS41892.1	13	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105386	0.37145	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000448424;ENST00000418097	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	5.38	3.33	0.38152	.	0.131384	0.50627	D	0.000112	D	0.84252	0.5431	N	0.26042	0.785	0.80722	D	1	P;B;P;P;B	0.47545	0.897;0.053;0.569;0.562;0.103	P;B;B;P;B	0.51918	0.684;0.025;0.327;0.537;0.056	T	0.82059	-0.0645	10	0.51188	T	0.08	-4.2125	4.6439	0.12563	0.1325:0.0:0.4909:0.3766	.	695;695;695;584;695	E7ET55;B7ZLR4;F5H748;P35670-3;P35670	.;.;.;.;ATP7B_HUMAN	I	695;584;695;695	ENSP00000242839:L695I;ENSP00000383217:L584I;ENSP00000416738:L695I;ENSP00000393343:L695I	ENSP00000242839:L695I	L	-	1	2	ATP7B	51432323	0.955000	0.32602	0.979000	0.43373	0.995000	0.86356	0.925000	0.28791	1.242000	0.43836	0.563000	0.77884	CTA	ATP7B	-	NULL	ENSG00000123191		0.473	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	HGNC	protein_coding	OTTHUMT00000045981.1	-	0.00	48	0	G	NM_000053		52534322	-1	tier1	-	no_errors	ENST00000242839	ensembl	human	known	74_37	missense	14.29	18	3	SNP	0.994	T
ATXN7L3	56970	genome.wustl.edu	37	17	42275036	42275036	+	Missense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:42275036C>A	ENST00000454077.2	-	2	113	c.114G>T	c.(112-114)gaG>gaT	p.E38D	ATXN7L3_ENST00000389384.4_Missense_Mutation_p.E38D|CTB-175E5.7_ENST00000586560.1_RNA|ATXN7L3_ENST00000593073.1_Intron	NM_020218.1	NP_064603.1			ataxin 7-like 3											kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCCGGTGTACCTCAAAGCAGA	0.547																																																	0													156.0	155.0	156.0					17																	42275036		2013	4183	6196	SO:0001583	missense	0			AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152			25416	protein-coding gene	gene with protein product						15115762	Standard	NM_001098833		Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000454077.2:c.114G>T	17.37:g.42275036C>A	ENSP00000397259:p.Glu38Asp			Missense_Mutation	SNP	pfam_SAGA_su_Sgf11,pfam_SCA7_dom	p.E38D	ENST00000454077.2	37	c.114	CCDS45697.1	17	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262619	0.59431	.	.	ENSG00000087152	ENST00000454077;ENST00000389384	.	.	.	4.65	3.67	0.42095	.	0.000000	0.85682	U	0.000000	T	0.54255	0.1847	L	0.46614	1.455	0.50467	D	0.999871	B;D	0.56035	0.361;0.974	B;P	0.55615	0.042;0.78	T	0.47446	-0.9117	9	0.25106	T	0.35	.	9.1402	0.36899	0.0:0.893:0.0:0.107	.	38;38	Q14CW9;Q14CW9-2	AT7L3_HUMAN;.	D	38	.	ENSP00000374035:E38D	E	-	3	2	ATXN7L3	39630562	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	3.015000	0.49599	0.905000	0.36596	0.655000	0.94253	GAG	ATXN7L3	-	NULL	ENSG00000087152		0.547	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATXN7L3	HGNC	protein_coding	OTTHUMT00000457724.1	-	0.00	43	0	C			42275036	-1	tier1	-	no_errors	ENST00000454077	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	A
BAGE2	85319	genome.wustl.edu	37	21	11097578	11097578	+	RNA	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr21:11097578G>T	ENST00000470054.1	-	0	291							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccaacctccagctcaccacag	0.537																																																	0													58.0	75.0	69.0					21																	11097578		1414	2561	3975			0			AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11097578G>T			A8K925|Q08ER0	RNA	SNP	-	NULL	ENST00000470054.1	37	NULL		21																																																																																			BAGE2	-	-	ENSG00000187172		0.537	BAGE2-001	KNOWN	basic	processed_transcript	BAGE2	HGNC	pseudogene	OTTHUMT00000157417.3	-	0.00	151	0	G	NM_182482		11097578	-1	tier1	-	no_errors	ENST00000470054	ensembl	human	known	74_37	rna	19.72	57	14	SNP	0.133	T
BARHL2	343472	genome.wustl.edu	37	1	91180292	91180292	+	Missense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:91180292C>A	ENST00000370445.4	-	2	688	c.647G>T	c.(646-648)cGg>cTg	p.R216L		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	216					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.R216P(1)		cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CGTAATCTCCCGGTCTCCTTC	0.542																																					GBM(199;3561 4100 22440)												1	Substitution - Missense(1)	lung(1)											114.0	117.0	116.0					1																	91180292		2203	4300	6503	SO:0001583	missense	0			AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.647G>T	1.37:g.91180292C>A	ENSP00000359474:p.Arg216Leu		A0AVP2|Q7Z4N7	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.R216L	ENST00000370445.4	37	c.647	CCDS730.1	1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347205	0.82022	.	.	ENSG00000143032	ENST00000370445	D	0.91237	-2.81	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.90758	0.7099	L	0.32530	0.975	0.80722	D	1	D	0.63880	0.993	D	0.71184	0.972	D	0.90447	0.4436	10	0.39692	T	0.17	.	17.3821	0.87407	0.0:1.0:0.0:0.0	.	216	Q9NY43	BARH2_HUMAN	L	216	ENSP00000359474:R216L	ENSP00000359474:R216L	R	-	2	0	BARHL2	90952880	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.575000	0.82447	2.429000	0.82318	0.561000	0.74099	CGG	BARHL2	-	NULL	ENSG00000143032		0.542	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARHL2	HGNC	protein_coding	OTTHUMT00000027728.2		0.00	65	0	C			91180292	-1			no_errors	ENST00000370445	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	A
BCLAF1	9774	genome.wustl.edu	37	6	136594287	136594287	+	Missense_Mutation	SNP	G	G	A	rs79786930		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:136594287G>A	ENST00000531224.1	-	7	2143	c.1891C>T	c.(1891-1893)Cgg>Tgg	p.R631W	BCLAF1_ENST00000527759.1_Missense_Mutation_p.R629W|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R629W|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R629W|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R458W|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R631W	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	631					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GAAGTGAACCGCTCGTTTAGG	0.393																																					Colon(142;1534 1789 5427 7063 28491)												0													230.0	230.0	230.0					6																	136594287		2203	4300	6503	SO:0001583	missense	0			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1891C>T	6.37:g.136594287G>A	ENSP00000435210:p.Arg631Trp		A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	NULL	p.R631W	ENST00000531224.1	37	c.1891	CCDS5177.1	6	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	16.57	3.161344	0.57368	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06;0.06	5.42	4.39	0.52855	.	0.000000	0.64402	D	0.000002	T	0.70684	0.3252	M	0.74467	2.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.999;0.988	T	0.75764	-0.3203	10	0.87932	D	0	-7.0482	11.4949	0.50402	0.0:0.0:0.24:0.76	.	629;629;631;458	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	W	631;629;631;458;629;629;631	ENSP00000435210:R631W;ENSP00000229446:R629W;ENSP00000435441:R631W;ENSP00000436501:R458W;ENSP00000434826:R629W;ENSP00000376159:R629W;ENSP00000431734:R631W	ENSP00000229446:R629W	R	-	1	2	BCLAF1	136635980	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.892000	0.56235	1.191000	0.43056	0.655000	0.94253	CGG	BCLAF1	-	NULL	ENSG00000029363		0.393	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2		0.00	52	0	G	NM_014739		136594287	-1			no_errors	ENST00000531224	ensembl	human	known	74_37	missense	10.17	53	6	SNP	1.000	A
BHMT2	23743	genome.wustl.edu	37	5	78378654	78378654	+	Missense_Mutation	SNP	C	C	A	rs553174622		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:78378654C>A	ENST00000255192.3	+	5	539	c.473C>A	c.(472-474)gCt>gAt	p.A158D	BHMT2_ENST00000521567.1_Missense_Mutation_p.A94D|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	158	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				L-methionine salvage (GO:0071267)|S-adenosylmethionine metabolic process (GO:0046500)|S-methylmethionine metabolic process (GO:0033477)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|S-methylmethionine-homocysteine S-methyltransferase activity (GO:0061627)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GTTGAAGAAGCTGTGTGGGCT	0.418																																																	0													150.0	148.0	149.0					5																	78378654		2203	4300	6503	SO:0001583	missense	0				CCDS4045.1, CCDS54871.1	5q13	2010-04-28	2010-04-28		ENSG00000132840	ENSG00000132840	2.1.1.5		1048	protein-coding gene	gene with protein product		605932				11087663, 18230605	Standard	NM_017614		Approved		uc003kft.3	Q9H2M3	OTTHUMG00000108158	ENST00000255192.3:c.473C>A	5.37:g.78378654C>A	ENSP00000255192:p.Ala158Asp		B7Z516|Q9NXX7	Missense_Mutation	SNP	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase	p.A158D	ENST00000255192.3	37	c.473	CCDS4045.1	5	.	.	.	.	.	.	.	.	.	.	C	29.7	5.028698	0.93518	.	.	ENSG00000132840	ENST00000255192;ENST00000521567	T;T	0.15487	2.42;2.42	5.19	5.19	0.71726	Homocysteine S-methyltransferase (4);	0.100050	0.64402	D	0.000002	T	0.47691	0.1459	M	0.84156	2.68	0.80722	D	1	D;D	0.89917	1.0;0.984	D;D	0.79784	0.993;0.93	T	0.53279	-0.8461	10	0.66056	D	0.02	-3.5261	18.6887	0.91574	0.0:1.0:0.0:0.0	.	94;158	B7Z516;Q9H2M3	.;BHMT2_HUMAN	D	158;94	ENSP00000255192:A158D;ENSP00000430278:A94D	ENSP00000255192:A158D	A	+	2	0	BHMT2	78414410	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.468000	0.80943	2.416000	0.81992	0.655000	0.94253	GCT	BHMT2	-	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase	ENSG00000132840		0.418	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHMT2	HGNC	protein_coding	OTTHUMT00000226962.2	-	0.00	63	0	C	NM_017614		78378654	+1	tier1	-	no_errors	ENST00000255192	ensembl	human	known	74_37	missense	24.49	37	12	SNP	1.000	A
BMP1	649	genome.wustl.edu	37	8	22037293	22037293	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr8:22037293G>T	ENST00000306385.5	+	7	1582	c.912G>T	c.(910-912)cgG>cgT	p.R304R	BMP1_ENST00000397814.3_Silent_p.R304R|BMP1_ENST00000306349.8_Silent_p.R304R|BMP1_ENST00000397816.3_Silent_p.R304R|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	304	Metalloprotease.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.R304R(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AAAGGACACGGCTCAGCAAGG	0.582																																																	2	Substitution - coding silent(2)	endometrium(2)											111.0	87.0	95.0					8																	22037293		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.912G>T	8.37:g.22037293G>T			A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom	p.R304	ENST00000306385.5	37	c.912	CCDS6026.1	8																																																																																			BMP1	-	pirsf_BMP_1/tolloid-like,pfam_Peptidase_M12A	ENSG00000168487		0.582	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP1	HGNC	protein_coding	OTTHUMT00000214995.2		0.00	46	0	G	NM_006132		22037293	+1			no_errors	ENST00000306385	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.992	T
MALRD1	340895	genome.wustl.edu	37	10	19616536	19616536	+	Missense_Mutation	SNP	A	A	C			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:19616536A>C	ENST00000454679.2	+	8	1509	c.1509A>C	c.(1507-1509)caA>caC	p.Q503H				Q5VYJ5	MALR1_HUMAN		503	MAM 3. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cholesterol homeostasis (GO:0042632)|negative regulation of bile acid biosynthetic process (GO:0070858)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|lung(2)	3						TGTGGGCTCAAACTGGACAGC	0.393																																																	0																																										SO:0001583	missense	0																														ENST00000454679.2:c.1509A>C	10.37:g.19616536A>C	ENSP00000412763:p.Gln503His		B7ZBP2	Missense_Mutation	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt,prints_MAM_dom	p.Q503H	ENST00000454679.2	37	c.1509		10	.	.	.	.	.	.	.	.	.	.	A	15.81	2.942393	0.53079	.	.	ENSG00000204740	ENST00000377266;ENST00000454679	T;T	0.02032	4.49;4.49	4.98	-1.32	0.09201	.	.	.	.	.	T	0.04003	0.0112	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50398	-0.8833	5	.	.	.	.	11.0724	0.48010	0.5049:0.0:0.4951:0.0	.	.	.	.	H	516;503	ENSP00000366477:Q516H;ENSP00000412763:Q503H	.	Q	+	3	2	C10orf112	19656542	1.000000	0.71417	0.452000	0.26994	0.899000	0.52679	1.741000	0.38238	-0.134000	0.11516	0.482000	0.46254	CAA	C10orf112	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000204740		0.393	C10orf112-201	KNOWN	basic|appris_principal	protein_coding	C10orf112	HGNC	protein_coding		-	0.00	67	0	A			19616536	+1	tier1	-	no_errors	ENST00000454679	ensembl	human	known	74_37	missense	51.56	31	33	SNP	0.982	C
C11orf49	79096	genome.wustl.edu	37	11	47074049	47074049	+	Missense_Mutation	SNP	G	G	T	rs199708936		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:47074049G>T	ENST00000278460.7	+	3	319	c.260G>T	c.(259-261)cGa>cTa	p.R87L	C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000395460.2_Missense_Mutation_p.R87L|C11orf49_ENST00000378615.3_Missense_Mutation_p.R87L|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000378618.2_Missense_Mutation_p.R87L|C11orf49_ENST00000543718.1_Intron	NM_001003677.1|NM_024113.3	NP_001003677.1|NP_077018.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	87						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						AGATGCTTCCGAACTGTGGGC	0.473																																																	0													113.0	113.0	113.0					11																	47074049		2201	4299	6500	SO:0001583	missense	0			AL136575	CCDS7925.1, CCDS31479.1, CCDS31480.1, CCDS41641.1	11p11.2	2006-02-02			ENSG00000149179	ENSG00000149179			28720	protein-coding gene	gene with protein product							Standard	NM_001003677		Approved	FLJ22210, MGC4707	uc001ndr.4	Q9H6J7	OTTHUMG00000166725	ENST00000278460.7:c.260G>T	11.37:g.47074049G>T	ENSP00000278460:p.Arg87Leu		D3DQQ8|E9PAX7|Q7L077|Q96CS8|Q9BQH4|Q9BUW5	Nonsense_Mutation	SNP	NULL	p.E53*	ENST00000278460.7	37	c.157	CCDS7925.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.241633	0.95272	.	.	ENSG00000149179	ENST00000278460;ENST00000378618;ENST00000395460;ENST00000378615;ENST00000526827	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.996	D;D;D	0.87578	0.998;0.992;0.992	T	0.54669	-0.8259	10	0.87932	D	0	-10.9165	20.5568	0.99304	0.0:0.0:1.0:0.0	.	87;87;87	E9PAX7;Q9H6J7-2;Q9H6J7	.;.;CK049_HUMAN	L	87;87;87;87;13	ENSP00000278460:R87L;ENSP00000367881:R87L;ENSP00000378844:R87L;ENSP00000367878:R87L;ENSP00000433707:R13L	ENSP00000278460:R87L	R	+	2	0	C11orf49	47030625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.948000	0.93006	2.861000	0.98227	0.655000	0.94253	CGA	C11orf49	-	NULL	ENSG00000149179		0.473	C11orf49-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf49	HGNC	protein_coding	OTTHUMT00000391218.1	-	0.00	74	0	G	NM_024113		47074049	+1	tier1	-	no_errors	ENST00000525895	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	1.000	T
C11orf63	79864	genome.wustl.edu	37	11	122817347	122817347	+	Silent	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:122817347G>A	ENST00000531316.1	+	5	1868	c.1776G>A	c.(1774-1776)acG>acA	p.T592T	C11orf63_ENST00000227349.2_Silent_p.T592T			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	592					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CCAGCGTCACGCTTCCACCTA	0.507																																																	0													77.0	71.0	73.0					11																	122817347		2202	4299	6501	SO:0001819	synonymous_variant	0			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.1776G>A	11.37:g.122817347G>A			A8K6G0|Q96GB5|Q9H5D6	Silent	SNP	NULL	p.T592	ENST00000531316.1	37	c.1776	CCDS8438.1	11																																																																																			C11orf63	-	NULL	ENSG00000109944		0.507	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf63	HGNC	protein_coding	OTTHUMT00000387511.1	-	0.00	64	0	G	NM_024806		122817347	+1	tier1	-	no_errors	ENST00000227349	ensembl	human	known	74_37	silent	52.17	33	36	SNP	0.000	A
C12orf40	283461	genome.wustl.edu	37	12	40040183	40040183	+	Silent	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:40040183C>A	ENST00000324616.5	+	4	409	c.255C>A	c.(253-255)ccC>ccA	p.P85P	C12orf40_ENST00000405531.3_Silent_p.P85P|C12orf40_ENST00000398716.1_Silent_p.P8P	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	85										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TAAAAATGCCCCTAAGAAAGC	0.294																																																	0													117.0	112.0	113.0					12																	40040183		1814	4080	5894	SO:0001819	synonymous_variant	0			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.255C>A	12.37:g.40040183C>A			B7WNU1|Q8IXY6|Q8N818|V9HW02	Silent	SNP	NULL	p.P85	ENST00000324616.5	37	c.255	CCDS41770.1	12																																																																																			C12orf40	-	NULL	ENSG00000180116		0.294	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf40	HGNC	protein_coding	OTTHUMT00000257664.2		0.00	64	0	C	NM_173599		40040183	+1			no_errors	ENST00000324616	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.654	A
CCDC184	387856	genome.wustl.edu	37	12	48578224	48578224	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:48578224G>T	ENST00000316554.3	+	1	859	c.319G>T	c.(319-321)Ggc>Tgc	p.G107C		NM_001013635.3	NP_001013657.3	Q52MB2	CC184_HUMAN		107						cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						CGTGGTCGGCGGCAAGGGGAG	0.682																																																	0													17.0	19.0	18.0					12																	48578224		2202	4296	6498	SO:0001583	missense	0																														ENST00000316554.3:c.319G>T	12.37:g.48578224G>T	ENSP00000320849:p.Gly107Cys		Q96MK5|Q96N39	Missense_Mutation	SNP	NULL	p.G107C	ENST00000316554.3	37	c.319	CCDS31785.1	12	.	.	.	.	.	.	.	.	.	.	G	5.090	0.202249	0.09652	.	.	ENSG00000177875	ENST00000316554	T	0.53857	0.6	5.76	1.95	0.26073	.	0.495290	0.18835	N	0.129852	T	0.38904	0.1058	N	0.08118	0	0.30664	N	0.754048	D	0.54601	0.967	P	0.51777	0.679	T	0.44143	-0.9347	10	0.72032	D	0.01	-2.8704	7.8382	0.29382	0.3317:0.0:0.6683:0.0	.	107	Q52MB2	CL068_HUMAN	C	107	ENSP00000320849:G107C	ENSP00000320849:G107C	G	+	1	0	C12orf68	46864491	0.945000	0.32115	0.904000	0.35570	0.091000	0.18340	0.829000	0.27449	0.093000	0.17368	-0.142000	0.14014	GGC	C12orf68	-	NULL	ENSG00000177875		0.682	C12orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf68	HGNC	protein_coding	OTTHUMT00000406514.1		0.00	43	0	G			48578224	+1			no_errors	ENST00000316554	ensembl	human	known	74_37	missense	6.12	45	3	SNP	0.977	T
C12orf50	160419	genome.wustl.edu	37	12	88380088	88380088	+	Splice_Site	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:88380088C>A	ENST00000298699.2	-	10	1103		c.e10+1		C12orf50_ENST00000550553.1_Splice_Site	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50									p.?(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						AGACACCTTACCTCTCTGCAT	0.318																																																	1	Unknown(1)	breast(1)											86.0	87.0	86.0					12																	88380088		2203	4299	6502	SO:0001630	splice_region_variant	0			AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.922+1G>T	12.37:g.88380088C>A			Q6P674	Splice_Site	SNP	-	e9+1	ENST00000298699.2	37	c.922+1	CCDS9031.1	12	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280098	0.23392	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944	.	.	.	6.01	6.01	0.97437	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4379	0.87557	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C12orf50	86904219	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	4.200000	0.58433	2.861000	0.98227	0.650000	0.86243	.	C12orf50	-	-	ENSG00000165805		0.318	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf50	HGNC	protein_coding	OTTHUMT00000406328.1		0.00	45	0	C	NM_152589	Intron	88380088	-1			no_errors	ENST00000298699	ensembl	human	known	74_37	splice_site	5.56	34	2	SNP	1.000	A
C14orf28	122525	genome.wustl.edu	37	14	45369775	45369775	+	Missense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr14:45369775C>A	ENST00000325192.3	+	2	412	c.137C>A	c.(136-138)cCa>cAa	p.P46Q	RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Missense_Mutation_p.P46Q	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	46										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						TCCTGTACACCACTCTATGTT	0.368																																																	0													80.0	80.0	80.0					14																	45369775		2203	4300	6503	SO:0001583	missense	0			AA496212	CCDS32069.1	14q21.2	2012-08-16			ENSG00000179476	ENSG00000179476			19834	protein-coding gene	gene with protein product	"""dopamine receptor interacting protein 1"""						Standard	XM_005267316		Approved	DRIP-1	uc001wvo.3	Q4W4Y0	OTTHUMG00000170722	ENST00000325192.3:c.137C>A	14.37:g.45369775C>A	ENSP00000326846:p.Pro46Gln			Missense_Mutation	SNP	NULL	p.P46Q	ENST00000325192.3	37	c.137	CCDS32069.1	14	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177644	0.57692	.	.	ENSG00000179476	ENST00000325192;ENST00000557112	T;T	0.30714	1.52;1.52	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.34454	0.0898	N	0.19112	0.55	0.80722	D	1	P	0.51791	0.948	P	0.52481	0.7	T	0.09292	-1.0681	10	0.87932	D	0	.	17.7937	0.88562	0.0:1.0:0.0:0.0	.	46	Q4W4Y0	CN028_HUMAN	Q	46	ENSP00000326846:P46Q;ENSP00000451791:P46Q	ENSP00000326846:P46Q	P	+	2	0	C14orf28	44439525	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.452000	0.73485	2.878000	0.98634	0.650000	0.86243	CCA	C14orf28	-	NULL	ENSG00000179476		0.368	C14orf28-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	C14orf28	HGNC	protein_coding	OTTHUMT00000410086.1	-	0.00	72	0	C	NM_001017923		45369775	+1	tier1	-	no_errors	ENST00000325192	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A
C17orf53	78995	genome.wustl.edu	37	17	42225282	42225282	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:42225282G>T	ENST00000319977.4	+	3	348	c.111G>T	c.(109-111)gtG>gtT	p.V37V	C17orf53_ENST00000245382.6_Silent_p.V37V|C17orf53_ENST00000585683.1_Silent_p.V37V	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	37										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CACTGCCTGTGAATGCTGGGC	0.552																																																	0													67.0	66.0	67.0					17																	42225282		2203	4300	6503	SO:0001819	synonymous_variant	0			AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.111G>T	17.37:g.42225282G>T			A8K7A9|Q9BWM9|Q9HAI1	Silent	SNP	NULL	p.V37	ENST00000319977.4	37	c.111	CCDS11477.1	17																																																																																			C17orf53	-	NULL	ENSG00000125319		0.552	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C17orf53	HGNC	protein_coding	OTTHUMT00000457697.1	-	0.00	26	0	G	NM_024032		42225282	+1	tier1	-	no_errors	ENST00000319977	ensembl	human	known	74_37	silent	15.79	16	3	SNP	0.002	T
C19orf80	55908	genome.wustl.edu	37	19	11352209	11352209	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:11352209G>A	ENST00000252453.8	+	3	567	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	DOCK6_ENST00000294618.7_Intron|C19orf80_ENST00000591200.1_Missense_Mutation_p.R84Q	NM_018687.6	NP_061157.3	Q6UXH0	BETAT_HUMAN	chromosome 19 open reading frame 80	183					cellular lipid metabolic process (GO:0044255)|glucose metabolic process (GO:0006006)|positive regulation of protein processing (GO:0010954)|regulation of lipoprotein metabolic process (GO:0050746)|triglyceride homeostasis (GO:0070328)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(1)|breast(1)|endometrium(2)	4						CAGCAGCATCGGCTGCGACAG	0.667																																																	0													8.0	14.0	12.0					19																	11352209		2088	4096	6184	SO:0001583	missense	0				CCDS54220.1	19p13.2	2014-02-13			ENSG00000130173	ENSG00000130173			24933	protein-coding gene	gene with protein product	"""lipasin"", ""betatrophin"""					22809513, 23150577, 24262987	Standard	NM_018687		Approved	TD26, RIFL, ANGPTL8	uc021upg.1	Q6UXH0		ENST00000252453.8:c.548G>A	19.37:g.11352209G>A	ENSP00000252453:p.Arg183Gln		Q9NQZ1	Missense_Mutation	SNP	NULL	p.R183Q	ENST00000252453.8	37	c.548	CCDS54220.1	19	.	.	.	.	.	.	.	.	.	.	G	5.784	0.328932	0.10956	.	.	ENSG00000130173	ENST00000397785;ENST00000252453	T	0.28255	1.62	3.93	0.182	0.15077	.	0.939485	0.08718	N	0.903878	T	0.14184	0.0343	N	0.22421	0.69	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.32851	-0.9891	10	0.02654	T	1	-6.7999	3.1269	0.06411	0.278:0.2316:0.4904:0.0	.	183	Q6UXH0	TD26_HUMAN	Q	108;183	ENSP00000252453:R183Q	ENSP00000252453:R183Q	R	+	2	0	C19orf80	11213209	0.348000	0.24861	0.198000	0.23420	0.788000	0.44548	0.281000	0.18810	0.294000	0.22547	0.306000	0.20318	CGG	C19orf80	-	NULL	ENSG00000130173		0.667	C19orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf80	HGNC	protein_coding	OTTHUMT00000453175.1	-	0.00	47	0	G	NM_018687		11352209	+1	tier1	-	no_errors	ENST00000252453	ensembl	human	known	74_37	missense	20.59	27	7	SNP	0.161	A
C1QTNF1	114897	genome.wustl.edu	37	17	77043850	77043850	+	Missense_Mutation	SNP	G	G	T	rs373450378		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:77043850G>T	ENST00000339142.2	+	5	1081	c.526G>T	c.(526-528)Gac>Tac	p.D176Y	C1QTNF1_ENST00000354124.3_Missense_Mutation_p.D186Y|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.D94Y|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.D94Y|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.D176Y|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.D176Y|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.D176Y|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.D176Y|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.D176Y|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.D176Y	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	176	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GAACCTCTACGACCACTTCAA	0.562																																																	0													163.0	149.0	154.0					17																	77043850		2203	4300	6503	SO:0001583	missense	0			AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.526G>T	17.37:g.77043850G>T	ENSP00000340864:p.Asp176Tyr		Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.D186Y	ENST00000339142.2	37	c.556	CCDS11761.1	17	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908138	0.52333	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	T;T;T	0.24151	1.87;1.87;1.87	4.72	-4.91	0.03085	Tumour necrosis factor-like (2);Complement C1q protein (4);	1.337000	0.04802	N	0.433541	T	0.27866	0.0686	L	0.36672	1.1	0.09310	N	0.999996	P;P;P	0.42556	0.783;0.783;0.498	P;P;P	0.48770	0.589;0.461;0.461	T	0.48581	-0.9023	10	0.72032	D	0.01	.	9.5063	0.39048	0.4158:0.0933:0.4909:0.0	.	186;186;176	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	Y	176;94;186;176;186	ENSP00000340864:D176Y;ENSP00000311265:D94Y;ENSP00000343230:D186Y	ENSP00000311265:D94Y	D	+	1	0	C1QTNF1	74555445	0.998000	0.40836	0.908000	0.35775	0.933000	0.57130	1.054000	0.30455	-0.826000	0.04284	-1.134000	0.01955	GAC	C1QTNF1	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000173918		0.562	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C1QTNF1	HGNC	protein_coding	OTTHUMT00000437388.2		0.00	36	0	G	NM_030968		77043850	+1			no_errors	ENST00000354124	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.364	T
C21orf91	54149	genome.wustl.edu	37	21	19190565	19190565	+	Missense_Mutation	SNP	C	C	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr21:19190565C>G	ENST00000400558.3	-	2	161	c.71G>C	c.(70-72)gGa>gCa	p.G24A	C21orf91_ENST00000400559.3_Missense_Mutation_p.G24A|C21orf91_ENST00000493464.1_5'UTR|C21orf91_ENST00000284881.4_Missense_Mutation_p.G24A	NM_001100421.1	NP_001093891.1			chromosome 21 open reading frame 91											endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		TTTGTCTGTTCCCAGTTTACA	0.353																																																	0													196.0	184.0	188.0					21																	19190565		1881	4120	6001	SO:0001583	missense	0			AF239726	CCDS42907.1, CCDS42908.1, CCDS42909.1	21q21.1	2011-12-12	2003-07-22		ENSG00000154642	ENSG00000154642			16459	protein-coding gene	gene with protein product	"""cold sore susceptibility gene 1"", ""early undifferentiated retina and lens"""		"""chromosome 21 open reading frame 38"""	C21orf38, C21orf14		22039568	Standard	NM_001100421		Approved	YG81, EURL, CSSG1	uc002yko.4	Q9NYK6	OTTHUMG00000074509	ENST00000400558.3:c.71G>C	21.37:g.19190565C>G	ENSP00000383403:p.Gly24Ala			Missense_Mutation	SNP	pfam_EURL_prot	p.G24A	ENST00000400558.3	37	c.71	CCDS42909.1	21	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805781	0.50421	.	.	ENSG00000154642	ENST00000284881;ENST00000400559;ENST00000400558;ENST00000405964	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.34	5.34	0.76211	.	0.049066	0.85682	D	0.000000	T	0.38506	0.1043	M	0.61703	1.905	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.67548	0.92;0.952	T	0.02301	-1.1180	9	.	.	.	-6.3039	16.8856	0.86075	0.0:1.0:0.0:0.0	.	24;24	Q9NYK6-3;Q9NYK6	.;EURL_HUMAN	A	24	ENSP00000284881:G24A;ENSP00000383404:G24A;ENSP00000383403:G24A;ENSP00000385566:G24A	.	G	-	2	0	C21orf91	18112436	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.788000	0.62439	2.664000	0.90586	0.655000	0.94253	GGA	C21orf91	-	pfam_EURL_prot	ENSG00000154642		0.353	C21orf91-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	C21orf91	HGNC	protein_coding	OTTHUMT00000158214.1	-	0.00	48	0	C	NM_017447		19190565	-1	tier1	-	no_errors	ENST00000284881	ensembl	human	known	74_37	missense	56.00	22	28	SNP	1.000	G
ZGRF1	55345	genome.wustl.edu	37	4	113505224	113505224	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr4:113505224G>T	ENST00000505019.1	-	15	4333	c.4208C>A	c.(4207-4209)cCt>cAt	p.P1403H		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1403						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AACCATGCCAGGTCGAGCTCC	0.383																																																	0													96.0	95.0	95.0					4																	113505224		2203	4300	6503	SO:0001583	missense	0																														ENST00000505019.1:c.4208C>A	4.37:g.113505224G>T	ENSP00000424737:p.Pro1403His		B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase	p.P1403H	ENST00000505019.1	37	c.4208		4	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048551	0.36181	.	.	ENSG00000138658	ENST00000505019	D	0.83163	-1.69	5.95	5.11	0.69529	.	3.680890	0.00649	N	0.000540	D	0.91825	0.7413	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	T	0.76903	-0.2787	10	0.72032	D	0.01	-6.0271	16.5367	0.84374	0.0:0.0:0.8682:0.1318	.	1403	G5EA02	.	H	1403	ENSP00000424737:P1403H	ENSP00000404365:P301H	P	-	2	0	C4orf21	113724673	0.973000	0.33851	0.002000	0.10522	0.177000	0.22998	3.935000	0.56560	1.510000	0.48803	-0.188000	0.12872	CCT	C4orf21	-	NULL	ENSG00000138658		0.383	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	-	0.00	42	0	G			113505224	-1	tier1	-	no_errors	ENST00000505019	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.068	T
C5orf34	375444	genome.wustl.edu	37	5	43492873	43492873	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:43492873G>T	ENST00000306862.2	-	9	1809	c.1434C>A	c.(1432-1434)ggC>ggA	p.G478G	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	478										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TTAGAGTAATGCCATCTAAAA	0.378																																																	0													84.0	86.0	85.0					5																	43492873		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.1434C>A	5.37:g.43492873G>T				Silent	SNP	NULL	p.G478	ENST00000306862.2	37	c.1434	CCDS3946.1	5																																																																																			C5orf34	-	NULL	ENSG00000172244		0.378	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf34	HGNC	protein_coding	OTTHUMT00000253843.1	-	0.00	72	0	G	NM_198566		43492873	-1	tier1	-	no_errors	ENST00000306862	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.476	T
C5orf64	285668	genome.wustl.edu	37	5	60999816	60999816	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:60999816G>T	ENST00000505642.1	+	4	424	c.349G>T	c.(349-351)Gtt>Ttt	p.V117F	C5orf64_ENST00000313303.7_Missense_Mutation_p.V117F|C5orf64_ENST00000510414.1_3'UTR	NM_173667.2	NP_775938.1	Q2M2E5	CE064_HUMAN	chromosome 5 open reading frame 64	117						extracellular region (GO:0005576)				breast(1)	1						AGCTGACTGTGTTCTAAAATC	0.453																																																	0													99.0	96.0	97.0					5																	60999816		1956	4147	6103	SO:0001583	missense	0				CCDS54860.1	5q12.1	2014-02-12	2011-05-05		ENSG00000178722	ENSG00000178722			26744	protein-coding gene	gene with protein product							Standard	NM_173667		Approved	FLJ37543	uc003jst.1	Q2M2E5	OTTHUMG00000162412	ENST00000505642.1:c.349G>T	5.37:g.60999816G>T	ENSP00000423157:p.Val117Phe		Q2M2H1|Q8N1U8	Missense_Mutation	SNP	NULL	p.V117F	ENST00000505642.1	37	c.349	CCDS54860.1	5	.	.	.	.	.	.	.	.	.	.	G	3.722	-0.057394	0.07317	.	.	ENSG00000178722	ENST00000505642;ENST00000313303	T;T	0.39406	1.08;1.08	3.94	1.52	0.23074	.	0.882830	0.09210	N	0.833362	T	0.23766	0.0575	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25222	-1.0138	10	0.87932	D	0	1.3725	8.2918	0.31963	0.0:0.0:0.4313:0.5687	.	117	Q2M2E5	CE064_HUMAN	F	117	ENSP00000423157:V117F;ENSP00000318395:V117F	ENSP00000318395:V117F	V	+	1	0	C5orf64	61035573	0.000000	0.05858	0.010000	0.14722	0.003000	0.03518	-0.002000	0.12924	0.329000	0.23460	-0.262000	0.10625	GTT	C5orf64	-	NULL	ENSG00000178722		0.453	C5orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf64	HGNC	protein_coding	OTTHUMT00000368790.1	-	0.00	72	0	G	NM_173667		60999816	+1	tier1	-	no_errors	ENST00000313303	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.016	T
CA10	56934	genome.wustl.edu	37	17	50235181	50235181	+	5'UTR	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:50235181G>A	ENST00000285273.4	-	0	1077				CA10_ENST00000442502.2_5'UTR|CA10_ENST00000340813.6_5'UTR|CA10_ENST00000570565.1_Intron|CA10_ENST00000451037.2_5'UTR	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X						brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TCACTCGACGGGAAAACGGGG	0.552																																																	0													67.0	66.0	67.0					17																	50235181		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.-35C>T	17.37:g.50235181G>A			B2R7J0|B4DGL6	RNA	SNP	-	NULL	ENST00000285273.4	37	NULL	CCDS32684.1	17																																																																																			CA10	-	-	ENSG00000154975		0.552	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CA10	HGNC	protein_coding	OTTHUMT00000437480.1	-	0.00	27	0	G	NM_020178		50235181	-1	tier1	-	no_errors	ENST00000573294	ensembl	human	known	74_37	rna	15.38	22	4	SNP	1.000	A
CABP5	56344	genome.wustl.edu	37	19	48547157	48547157	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:48547157G>T	ENST00000293255.2	-	1	153	c.23C>A	c.(22-24)gCc>gAc	p.A8D		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	8					signal transduction (GO:0007165)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		GAAGATGCAGGCGGGGCCCAT	0.662																																																	0													38.0	38.0	38.0					19																	48547157		2203	4300	6503	SO:0001583	missense	0			AF169159	CCDS12709.1	19q13.33	2014-08-12			ENSG00000105507	ENSG00000105507		"""EF-hand domain containing"""	13714	protein-coding gene	gene with protein product		607315	"""calcium binding protein 3"""	CABP3		10625670	Standard	NM_019855		Approved	CaBP3	uc002phu.2	Q9NP86	OTTHUMG00000183139	ENST00000293255.2:c.23C>A	19.37:g.48547157G>T	ENSP00000293255:p.Ala8Asp		A0AUY4	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.A8D	ENST00000293255.2	37	c.23	CCDS12709.1	19	.	.	.	.	.	.	.	.	.	.	g	16.98	3.270258	0.59540	.	.	ENSG00000105507	ENST00000293255	T	0.73363	-0.74	4.94	3.89	0.44902	.	0.063358	0.64402	D	0.000008	T	0.74215	0.3687	L	0.36672	1.1	0.38060	D	0.936056	P	0.49358	0.923	P	0.53988	0.739	T	0.78732	-0.2089	10	0.87932	D	0	-16.4147	11.7509	0.51847	0.0:0.1778:0.8222:0.0	.	8	Q9NP86	CABP5_HUMAN	D	8	ENSP00000293255:A8D	ENSP00000293255:A8D	A	-	2	0	CABP5	53238969	1.000000	0.71417	0.985000	0.45067	0.921000	0.55340	7.659000	0.83766	1.232000	0.43678	-0.254000	0.11334	GCC	CABP5	-	NULL	ENSG00000105507		0.662	CABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABP5	HGNC	protein_coding	OTTHUMT00000465212.1	-	0.00	56	0	G	NM_019855		48547157	-1	tier1	-	no_errors	ENST00000293255	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.999	T
CACNA1E	777	genome.wustl.edu	37	1	181689919	181689919	+	Splice_Site	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:181689919G>T	ENST00000367573.2	+	15	1884	c.1884G>T	c.(1882-1884)agG>agT	p.R628S	CACNA1E_ENST00000357570.5_Splice_Site_p.R579S|CACNA1E_ENST00000358338.5_Splice_Site_p.R579S|CACNA1E_ENST00000367570.1_Splice_Site_p.R628S|CACNA1E_ENST00000367567.4_Splice_Site_p.R235S|CACNA1E_ENST00000360108.3_Splice_Site_p.R628S|CACNA1E_ENST00000526775.1_Splice_Site_p.R628S	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	628					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGTTTTTCAGGTTTAACTTTA	0.393																																																	0													75.0	74.0	74.0					1																	181689919		1845	4103	5948	SO:0001630	splice_region_variant	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1884-1G>T	1.37:g.181689919G>T			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.R628S	ENST00000367573.2	37	c.1884	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927603	0.52759	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98329	-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87	5.77	4.85	0.62838	.	0.040956	0.85682	D	0.000000	D	0.94009	0.8081	N	0.25647	0.755	0.53688	D	0.999974	B;B	0.33238	0.275;0.403	B;B	0.28305	0.088;0.088	D	0.91546	0.5253	9	.	.	.	.	9.5079	0.39058	0.2099:0.0:0.7901:0.0	.	628;628	Q15878-2;Q15878-3	.;.	S	628;628;579;579;235;628;628	ENSP00000356542:R628S;ENSP00000434814:R628S;ENSP00000350183:R579S;ENSP00000351101:R579S;ENSP00000356539:R235S;ENSP00000353222:R628S;ENSP00000356545:R628S	.	R	+	3	2	CACNA1E	179956542	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	1.454000	0.35178	2.720000	0.93068	0.557000	0.71058	AGG	CACNA1E	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000198216		0.393	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0.00	53	0	G	NM_000721	Missense_Mutation	181689919	+1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T
CACTIN	58509	genome.wustl.edu	37	19	3611288	3611288	+	3'UTR	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:3611288G>T	ENST00000429344.2	-	0	2962				CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000248420.5_Intron|CACTIN_ENST00000221899.3_Silent_p.L711L	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit						cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										AGTCCCTGCAGAGTGTGGGTG	0.677																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.*633C>A	19.37:g.3611288G>T			A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Silent	SNP	pfam_Cactin_dom,pfam_Cactin_C	p.L711	ENST00000429344.2	37	c.2133	CCDS45920.1	19																																																																																			CACTIN	-	NULL	ENSG00000105298		0.677	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACTIN	HGNC	protein_coding	OTTHUMT00000457370.2	-	0.00	39	0	G			3611288	-1	tier1	-	no_errors	ENST00000221899	ensembl	human	known	74_37	silent	10.53	34	4	SNP	0.001	T
CAD	790	genome.wustl.edu	37	2	27465264	27465264	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:27465264G>A	ENST00000403525.1	+	39	6146	c.6002G>A	c.(6001-6003)cGt>cAt	p.R2001H	CAD_ENST00000264705.4_Missense_Mutation_p.R2064H			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCACCATCCGTGAGGAGCTG	0.622																																																	0													37.0	37.0	37.0					2																	27465264		2203	4300	6503	SO:0001583	missense	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.6002G>A	2.37:g.27465264G>A	ENSP00000384510:p.Arg2001His		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.R2064H	ENST00000403525.1	37	c.6191		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.362182|5.362182	0.95877|0.95877	.|.	.|.	ENSG00000084774|ENSG00000084774	ENST00000264705;ENST00000403525|ENST00000428460	D;D|.	0.98474|.	-4.95;-4.95|.	5.05|5.05	5.05|5.05	0.67936|0.67936	Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding (1);|.	0.120057|.	0.56097|.	D|.	0.000024|.	D|D	0.83367|0.83367	0.5239|0.5239	M|M	0.88906|0.88906	2.99|2.99	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.998|.	D|D	0.86463|0.86463	0.1780|0.1780	10|5	0.87932|.	D|.	0|.	3.4673|3.4673	16.9556|16.9556	0.86258|0.86258	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2001;2064|.	F8VPD4;P27708|.	.;PYR1_HUMAN|.	H|M	2064;2001|100	ENSP00000264705:R2064H;ENSP00000384510:R2001H|.	ENSP00000264705:R2064H|.	R|V	+|+	2|1	0|0	CAD|CAD	27318768|27318768	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.292000|7.292000	0.78731|0.78731	2.322000|2.322000	0.78497|0.78497	0.561000|0.561000	0.74099|0.74099	CGT|GTG	CAD	-	pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Asp_carbamoyltransf,tigrfam_Asp_carbamoyltransf	ENSG00000084774		0.622	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1		0.00	43	0	G			27465264	+1			no_errors	ENST00000264705	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	A
CASC5	57082	genome.wustl.edu	37	15	40917434	40917434	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:40917434C>T	ENST00000346991.5	+	11	5440	c.5050C>T	c.(5050-5052)Ccc>Tcc	p.P1684S	CASC5_ENST00000399668.2_Missense_Mutation_p.P1658S			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1684					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GCCTAGATTGCCCAACAAGAG	0.403																																																	0													127.0	123.0	124.0					15																	40917434		1844	4089	5933	SO:0001583	missense	0			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.5050C>T	15.37:g.40917434C>T	ENSP00000335463:p.Pro1684Ser		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	NULL	p.P1684S	ENST00000346991.5	37	c.5050	CCDS42023.1	15	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384458	0.82792	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.24538	1.85;1.85	5.47	5.47	0.80525	.	0.000000	0.49916	D	0.000137	T	0.52500	0.1738	M	0.68952	2.095	0.44241	D	0.997086	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.53662	-0.8407	10	0.87932	D	0	.	19.3851	0.94553	0.0:1.0:0.0:0.0	.	1658;1684;1658	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	S	1684;1658;1658	ENSP00000335463:P1684S;ENSP00000382576:P1658S	ENSP00000260369:P1658S	P	+	1	0	CASC5	38704726	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.066000	0.64351	2.594000	0.87642	0.454000	0.30748	CCC	CASC5	-	NULL	ENSG00000137812		0.403	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CASC5	HGNC	protein_coding	OTTHUMT00000390224.2	-	0.00	60	0	C	NM_144508		40917434	+1	tier1	-	no_errors	ENST00000346991	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
CAPN3	825	genome.wustl.edu	37	15	42679958	42679958	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:42679958G>T	ENST00000397163.3	+	4	725	c.506G>T	c.(505-507)cGc>cTc	p.R169L	CAPN3_ENST00000318023.7_Missense_Mutation_p.R169L|CAPN3_ENST00000357568.3_Missense_Mutation_p.R169L|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.R82L|CAPN3_ENST00000349748.3_Missense_Mutation_p.R169L	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	169	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CAGTTCTGGCGCTATGGAGAG	0.493																																																	0													299.0	244.0	263.0					15																	42679958		2203	4299	6502	SO:0001583	missense	0			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.506G>T	15.37:g.42679958G>T	ENSP00000380349:p.Arg169Leu		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.R169L	ENST00000397163.3	37	c.506	CCDS45245.1	15	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027542	0.93518	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47	5.97	5.97	0.96955	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	U	0.000000	D	0.94489	0.8226	M	0.72576	2.205	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.995	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;0.973	D	0.94188	0.7438	10	0.87932	D	0	.	20.434	0.99088	0.0:0.0:1.0:0.0	.	82;82;169;169;169;82	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	L	82;169;169;169;169	ENSP00000348667:R82L;ENSP00000380349:R169L;ENSP00000350181:R169L;ENSP00000183936:R169L;ENSP00000326281:R169L	ENSP00000326281:R169L	R	+	2	0	CAPN3	40467250	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.837000	0.99465	2.838000	0.97847	0.561000	0.74099	CGC	CAPN3	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	ENSG00000092529		0.493	CAPN3-009	KNOWN	basic|CCDS	protein_coding	CAPN3	HGNC	protein_coding	OTTHUMT00000421075.1	-	0.00	50	0	G			42679958	+1	tier1	-	no_errors	ENST00000397163	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T
CCBE1	147372	genome.wustl.edu	37	18	57106801	57106802	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr18:57106801_57106802insA	ENST00000439986.4	-	9	961_962	c.924_925insT	c.(922-927)ccagggfs	p.G309fs	CCBE1_ENST00000398179.2_Frame_Shift_Ins_p.G38fs	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	309	Collagen-like 2.				lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CCTGGTGCCCCTGGTGGACCCT	0.411																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)												0																																										SO:0001589	frameshift_variant	0			AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.924_925insT	18.37:g.57106801_57106802insA	ENSP00000404464:p.Gly309fs		Q6MZX5|Q86SS2|Q8TF19	Frame_Shift_Ins	INS	pfam_Collagen,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.G308fs	ENST00000439986.4	37	c.925_924	CCDS32838.1	18																																																																																			CCBE1	-	pfam_Collagen	ENSG00000183287		0.411	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCBE1	HGNC	protein_coding	OTTHUMT00000449685.2		0.00	56	0	-	NM_133459		57106802	-1	tier1		no_errors	ENST00000439986	ensembl	human	known	74_37	frame_shift_ins	5.41	35	2	INS	1.000:0.997	A
CCDC112	153733	genome.wustl.edu	37	5	114604588	114604589	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:114604588_114604589insT	ENST00000512261.1	-	10	1704_1705	c.1288_1289insA	c.(1288-1290)atcfs	p.I430fs	CCDC112_ENST00000379611.5_Frame_Shift_Ins_p.I513fs|CCDC112_ENST00000395557.4_Frame_Shift_Ins_p.I430fs|CCDC112_ENST00000506442.1_Frame_Shift_Ins_p.I398fs			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	430										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		CCTATGTGGGATATGTAGAAGT	0.356																																																	0																																										SO:0001589	frameshift_variant	0			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.1289dupA	5.37:g.114604589_114604589dupT	ENSP00000423712:p.Ile430fs		Q6A334	Frame_Shift_Ins	INS	superfamily_Homeodomain-like	p.I513fs	ENST00000512261.1	37	c.1538_1537	CCDS4117.1	5																																																																																			CCDC112	-	NULL	ENSG00000164221		0.356	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	CCDC112	HGNC	protein_coding	OTTHUMT00000370999.1		0.00	43	0	-	NM_152549		114604589	-1	tier1		no_errors	ENST00000379611	ensembl	human	known	74_37	frame_shift_ins	17.95	32	7	INS	0.998:0.996	T
CCDC14	64770	genome.wustl.edu	37	3	123667900	123667900	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:123667900G>T	ENST00000488653.2	-	6	666	c.576C>A	c.(574-576)aaC>aaA	p.N192K	CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_De_novo_Start_OutOfFrame|CCDC14_ENST00000433542.2_Missense_Mutation_p.N151K|CCDC14_ENST00000485727.1_De_novo_Start_OutOfFrame|CCDC14_ENST00000310351.4_Missense_Mutation_p.N32K			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	192					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GCAATGACCAGTTTTGCTCTA	0.383																																																	0													127.0	113.0	118.0					3																	123667900		2203	4300	6503	SO:0001583	missense	0			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.576C>A	3.37:g.123667900G>T	ENSP00000420180:p.Asn192Lys		B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	NULL	p.N192K	ENST00000488653.2	37	c.576		3	.	.	.	.	.	.	.	.	.	.	G	1.553	-0.538730	0.04053	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000433542;ENST00000409697	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.32	-1.13	0.09775	.	0.463445	0.20045	N	0.100431	T	0.42743	0.1216	L	0.50333	1.59	0.09310	N	1	D;D	0.53462	0.96;0.96	P;P	0.52217	0.693;0.693	T	0.40098	-0.9581	10	0.39692	T	0.17	.	10.2787	0.43526	0.5004:0.0:0.4996:0.0	.	192;151	Q49A88;Q49A88-6	CCD14_HUMAN;.	K	192;32;151;173	ENSP00000420180:N192K;ENSP00000312031:N32K;ENSP00000395706:N151K;ENSP00000386866:N173K	ENSP00000312031:N32K	N	-	3	2	CCDC14	125150590	0.478000	0.25917	0.089000	0.20774	0.433000	0.31745	0.203000	0.17315	-0.337000	0.08426	-1.063000	0.02288	AAC	CCDC14	-	NULL	ENSG00000175455		0.383	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC14	HGNC	protein_coding		-	0.00	45	0	G	NM_022757		123667900	-1	tier1	-	no_errors	ENST00000488653	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.008	T
CCDC22	28952	genome.wustl.edu	37	X	49105333	49105333	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chrX:49105333G>T	ENST00000376227.3	+	13	1657	c.1487G>T	c.(1486-1488)cGc>cTc	p.R496L		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	496										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						TACACCCAGCGCATCCTGGAG	0.607																																																	0													64.0	43.0	50.0					X																	49105333		2201	4298	6499	SO:0001583	missense	0			BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"""chromosome X open reading frame 37"""	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.1487G>T	X.37:g.49105333G>T	ENSP00000365401:p.Arg496Leu		A8K7G1	Missense_Mutation	SNP	pfam_DUF812	p.R496L	ENST00000376227.3	37	c.1487	CCDS14322.1	X	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908900	0.92107	.	.	ENSG00000101997	ENST00000376227;ENST00000538876	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.83408	0.5248	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85757	0.1347	9	0.66056	D	0.02	-12.2605	17.1252	0.86712	0.0:0.0:1.0:0.0	.	496	O60826	CCD22_HUMAN	L	496	.	ENSP00000365401:R496L	R	+	2	0	CCDC22	48992277	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.167000	0.94773	2.309000	0.77851	0.292000	0.19580	CGC	CCDC22	-	pfam_DUF812	ENSG00000101997		0.607	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC22	HGNC	protein_coding	OTTHUMT00000060822.1	-	0.00	21	0	G	NM_014008		49105333	+1	tier1	-	no_errors	ENST00000376227	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	T
CCDC88A	55704	genome.wustl.edu	37	2	55591107	55591107	+	Silent	SNP	C	C	T	rs374500852		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:55591107C>T	ENST00000436346.1	-	6	1306	c.465G>A	c.(463-465)gcG>gcA	p.A155A	CCDC88A_ENST00000263630.8_Silent_p.A155A|CCDC88A_ENST00000336838.6_Silent_p.A155A|CCDC88A_ENST00000413716.2_Silent_p.A155A	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	155					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTGCGGCAACCGCTGCTTTTG	0.284																																																	0													75.0	78.0	77.0					2																	55591107		2202	4296	6498	SO:0001819	synonymous_variant	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.465G>A	2.37:g.55591107C>T			A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Silent	SNP	pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE	p.A155	ENST00000436346.1	37	c.465		2																																																																																			CCDC88A	-	pfam_Hook-related_fam	ENSG00000115355		0.284	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		-	0.00	61	0	C	NM_017571		55591107	-1	tier1	-	no_errors	ENST00000436346	ensembl	human	known	74_37	silent	25.00	54	18	SNP	0.998	T
CDC42BPA	8476	genome.wustl.edu	37	1	227504836	227504836	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:227504836G>T	ENST00000366769.3	-	1	1339	c.48C>A	c.(46-48)gaC>gaA	p.D16E	CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D16E|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D16E|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D16E|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D16E|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.D16E|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D16E	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GAGCGGGCCCGTCCAAAATAA	0.418																																																	0													133.0	119.0	123.0					1																	227504836		2203	4300	6503	SO:0001583	missense	0			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.48C>A	1.37:g.227504836G>T	ENSP00000355731:p.Asp16Glu			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.D16E	ENST00000366769.3	37	c.48	CCDS1558.1	1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963091	0.34659	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.66638	-0.16;-0.14;-0.16;-0.19;-0.22;-0.17;-0.2	4.82	-3.4	0.04853	.	0.049253	0.85682	D	0.000000	T	0.55593	0.1930	L	0.59436	1.845	0.41548	D	0.988558	B;B;B;B	0.28998	0.23;0.009;0.07;0.011	B;B;B;B	0.22152	0.038;0.006;0.022;0.01	T	0.38650	-0.9651	10	0.51188	T	0.08	.	12.2783	0.54749	0.4731:0.0:0.5269:0.0	.	16;16;16;16	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	E	16	ENSP00000355731:D16E;ENSP00000355729:D16E;ENSP00000335341:D16E;ENSP00000355728:D16E;ENSP00000355726:D16E;ENSP00000443275:D16E;ENSP00000355727:D16E	ENSP00000335341:D16E	D	-	3	2	CDC42BPA	225571459	1.000000	0.71417	0.962000	0.40283	0.993000	0.82548	1.517000	0.35867	-0.919000	0.03803	-0.471000	0.05019	GAC	CDC42BPA	-	NULL	ENSG00000143776		0.418	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	-	0.00	53	0	G	NM_014826		227504836	-1	tier1	-	no_errors	ENST00000334218	ensembl	human	known	74_37	missense	55.17	26	32	SNP	0.964	T
CDK5RAP3	80279	genome.wustl.edu	37	17	46053334	46053334	+	Silent	SNP	A	A	G	rs202125432	byFrequency	TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:46053334A>G	ENST00000338399.4	+	8	859	c.753A>G	c.(751-753)gaA>gaG	p.E251E	CDK5RAP3_ENST00000536708.2_Silent_p.E276E|RP11-6N17.9_ENST00000582262.1_RNA	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	251					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)	p.E251E(1)		NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CTGTGGTGGAACGACCCCACC	0.602																																																	1	Substitution - coding silent(1)	prostate(1)																																								SO:0001819	synonymous_variant	0			AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.753A>G	17.37:g.46053334A>G			B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Silent	SNP	pfam_DUF773	p.E251	ENST00000338399.4	37	c.753	CCDS42356.1	17																																																																																			CDK5RAP3	-	pfam_DUF773	ENSG00000108465		0.602	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5RAP3	HGNC	protein_coding	OTTHUMT00000442913.1	-	0.00	40	0	A	NM_176096		46053334	+1	tier1	rs202125432	no_errors	ENST00000338399	ensembl	human	known	74_37	silent	26.42	39	14	SNP	1.000	G
CDKN2A	1029	genome.wustl.edu	37	9	21974676	21974676	+	Splice_Site	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:21974676C>A	ENST00000304494.5	-	1	421		c.e1+1		CDKN2A_ENST00000498628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_Splice_Site|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(14)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCTCTACCCACCTGGATCGGC	0.672		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1331	Whole gene deletion(1316)|Unknown(14)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(277)|skin(168)|central_nervous_system(163)|lung(145)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(48)|upper_aerodigestive_tract(47)|ovary(34)|kidney(30)|breast(30)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											92.0	108.0	102.0					9																	21974676		2203	4300	6503	SO:0001630	splice_region_variant	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.150+1G>T	9.37:g.21974676C>A			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Splice_Site	SNP	-	e1+1	ENST00000304494.5	37	c.150+1	CCDS6510.1	9	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128722	0.37533	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	N	0.25031	0.7	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3226	0.87240	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDKN2A	21964676	1.000000	0.71417	0.997000	0.53966	0.109000	0.19521	5.477000	0.66799	2.681000	0.91329	0.655000	0.94253	.	CDKN2A	-	-	ENSG00000147889		0.672	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1	-	0.00	52	0	C	NM_000077	Intron	21974676	-1	tier1	-	no_errors	ENST00000446177	ensembl	human	known	74_37	splice_site	73.68	5	14	SNP	1.000	A
CFH	3075	genome.wustl.edu	37	1	196642152	196642152	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:196642152G>T	ENST00000359637.2	+	2	165	c.103G>T	c.(103-105)Ggt>Tgt	p.G35C	CFH_ENST00000439155.2_Missense_Mutation_p.G35C|CFH_ENST00000496761.1_3'UTR|CFH_ENST00000367429.4_Missense_Mutation_p.G35C			P08603	CFAH_HUMAN	complement factor H	100	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AATTCTGACAGGTTCCTGGTC	0.363																																																	0													59.0	64.0	62.0					1																	196642152		2203	4300	6503	SO:0001583	missense	0			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.103G>T	1.37:g.196642152G>T	ENSP00000352658:p.Gly35Cys		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.G35C	ENST00000359637.2	37	c.103		1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864974	0.51482	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.70399	-0.48;-0.48;-0.48	4.39	4.39	0.52855	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.83280	0.5220	M	0.77616	2.38	0.26752	N	0.970185	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.993	T	0.74630	-0.3601	9	0.72032	D	0.01	.	12.3224	0.54991	0.0:0.0:1.0:0.0	.	35;35;35;35	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	C	35	ENSP00000356399:G35C;ENSP00000402656:G35C;ENSP00000352658:G35C	ENSP00000352658:G35C	G	+	1	0	CFH	194908775	0.915000	0.31059	0.930000	0.37139	0.468000	0.32798	3.512000	0.53407	2.283000	0.76528	0.561000	0.74099	GGT	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000000971		0.363	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000087502.1	-	0.00	50	0	G	NM_000186		196642152	+1	tier1	-	no_errors	ENST00000367429	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.490	T
CHD2	1106	genome.wustl.edu	37	15	93540315	93540316	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:93540315_93540316insA	ENST00000394196.4	+	29	4792_4793	c.3724_3725insA	c.(3724-3726)gaafs	p.E1242fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.E1242fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1242					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGACCCTGAAGAAAAAAAAAAG	0.347																																																	0																																										SO:0001589	frameshift_variant	0			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3735dupA	15.37:g.93540325_93540325dupA	ENSP00000377747:p.Glu1242fs		C6G482|Q96IP5	Frame_Shift_Ins	INS	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Y1246fs	ENST00000394196.4	37	c.3724_3725	CCDS10374.2	15																																																																																			CHD2	-	NULL	ENSG00000173575		0.347	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3		0.00	61	0	-	NM_001271		93540316	+1	tier1		no_errors	ENST00000557381	ensembl	human	putative	74_37	frame_shift_ins	9.68	56	6	INS	1.000:1.000	A
CHRM3	1131	genome.wustl.edu	37	1	240071724	240071724	+	Nonsense_Mutation	SNP	G	G	T	rs201132730		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:240071724G>T	ENST00000255380.4	+	5	1752	c.973G>T	c.(973-975)Gag>Tag	p.E325*		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	325					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)	p.E325*(1)		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)	ACCCAGCTCCGAGCAGATGGA	0.547																																																	1	Substitution - Nonsense(1)	lung(1)											46.0	44.0	45.0					1																	240071724		2203	4300	6503	SO:0001587	stop_gained	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.973G>T	1.37:g.240071724G>T	ENSP00000255380:p.Glu325*		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Nonsense_Mutation	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.E325*	ENST00000255380.4	37	c.973	CCDS1616.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.210886	0.99101	.	.	ENSG00000133019	ENST00000255380	.	.	.	5.97	5.05	0.67936	.	0.316013	0.34002	N	0.004355	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-26.5778	10.561	0.45146	0.0687:0.1341:0.7973:0.0	.	.	.	.	X	325	.	ENSP00000255380:E325X	E	+	1	0	CHRM3	238138347	1.000000	0.71417	0.892000	0.35008	0.904000	0.53231	4.147000	0.58078	1.499000	0.48617	0.655000	0.94253	GAG	CHRM3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000133019		0.547	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	HGNC	protein_coding	OTTHUMT00000095644.2		0.00	39	0	G	NM_000740		240071724	+1			no_errors	ENST00000255380	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	0.886	T
CHRNA7	1139	genome.wustl.edu	37	15	32460285	32460285	+	Missense_Mutation	SNP	G	G	A	rs573369306		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:32460285G>A	ENST00000306901.3	+	10	1232	c.1135G>A	c.(1135-1137)Gcc>Acc	p.A379T	CHRNA7_ENST00000455693.2_Missense_Mutation_p.A198T|CHRNA7_ENST00000454250.3_Missense_Mutation_p.A408T	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	379					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GCCGCCGCCCGCCAGCAACGG	0.716																																					Esophageal Squamous(193;529 2900 40232 43193)												0													16.0	24.0	21.0					15																	32460285		2179	4281	6460	SO:0001583	missense	0			Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1960	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 7 (neuronal)"""	118511	"""cholinergic receptor, nicotinic, alpha polypeptide 7"""			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.1135G>A	15.37:g.32460285G>A	ENSP00000303727:p.Ala379Thr		A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.A408T	ENST00000306901.3	37	c.1222	CCDS10027.1	15	.	.	.	.	.	.	.	.	.	.	g	3.425	-0.117298	0.06838	.	.	ENSG00000175344	ENST00000437966;ENST00000454250;ENST00000306901;ENST00000455693	T;T;T	0.19669	2.13;2.13;2.13	3.84	-0.555	0.11807	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.523290	0.01582	N	0.021155	T	0.08179	0.0204	N	0.03000	-0.44	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.20505	-1.0273	10	0.12766	T	0.61	.	3.6481	0.08192	0.494:0.0:0.3237:0.1823	.	408;379	B4DFS0;P36544	.;ACHA7_HUMAN	T	289;408;379;198	ENSP00000407546:A408T;ENSP00000303727:A379T;ENSP00000405989:A198T	ENSP00000303727:A379T	A	+	1	0	CHRNA7	30247577	0.000000	0.05858	0.001000	0.08648	0.477000	0.33069	-0.094000	0.11094	-0.091000	0.12440	0.650000	0.86243	GCC	CHRNA7	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000175344		0.716	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHRNA7	HGNC	protein_coding	OTTHUMT00000251410.2	-	0.00	113	0	G			32460285	+1	tier1	-	no_errors	ENST00000454250	ensembl	human	known	74_37	missense	21.43	66	18	SNP	0.028	A
CHRNB1	1140	genome.wustl.edu	37	17	7350939	7350939	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:7350939G>T	ENST00000306071.2	+	6	647	c.580G>T	c.(580-582)Gaa>Taa	p.E194*	RP11-104H15.10_ENST00000575331.1_RNA|CHRNB1_ENST00000576360.1_Nonsense_Mutation_p.E122*|CHRNB1_ENST00000536404.2_Nonsense_Mutation_p.E122*	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	194					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)	p.E194K(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	AGGGCATCAGGAAATCCACAT	0.507																																																	1	Substitution - Missense(1)	lung(1)											132.0	114.0	120.0					17																	7350939		2203	4300	6503	SO:0001587	stop_gained	0			X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.580G>T	17.37:g.7350939G>T	ENSP00000304290:p.Glu194*		B7Z5H1|Q8IZ46|Q96FB8	Nonsense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.E194*	ENST00000306071.2	37	c.580	CCDS11106.1	17	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457840	0.84317	.	.	ENSG00000170175	ENST00000306071;ENST00000536404	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	13.7047	0.62631	0.0:0.0:1.0:0.0	.	.	.	.	X	194;122	.	ENSP00000304290:E194X	E	+	1	0	CHRNB1	7291663	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	6.485000	0.73625	2.299000	0.77371	0.561000	0.74099	GAA	CHRNB1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000170175		0.507	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB1	HGNC	protein_coding	OTTHUMT00000226942.3		0.00	28	0	G			7350939	+1			no_errors	ENST00000306071	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	1.000	T
CHRNB2	1141	genome.wustl.edu	37	1	154542805	154542805	+	Silent	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:154542805C>A	ENST00000368476.3	+	4	591	c.327C>A	c.(325-327)tcC>tcA	p.S109S		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	109					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	GGCTCCCTTCCAAACACATCT	0.537																																																	0													66.0	55.0	59.0					1																	154542805		2203	4300	6503	SO:0001819	synonymous_variant	0			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.327C>A	1.37:g.154542805C>A			Q9UEH9	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.S109	ENST00000368476.3	37	c.327	CCDS1070.1	1																																																																																			CHRNB2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel	ENSG00000160716		0.537	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB2	HGNC	protein_coding	OTTHUMT00000090697.1	-	0.00	37	0	C	NM_000748		154542805	+1	tier1	-	no_errors	ENST00000368476	ensembl	human	known	74_37	silent	10.26	35	4	SNP	1.000	A
CLRN1-AS1	116933	genome.wustl.edu	37	3	150784178	150784178	+	RNA	SNP	G	G	A	rs145073057		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:150784178G>A	ENST00000476886.1	+	0	347				CLRN1-AS1_ENST00000465576.1_RNA					CLRN1 antisense RNA 1																		TCTAACTTAGGAAAAACAACA	0.343																																																	0																																												0					3q25.1	2012-10-12	2012-08-15	2011-04-28	ENSG00000239265	ENSG00000239265		"""Long non-coding RNAs"""	30895	non-coding RNA	RNA, long non-coding			"""clarin 1 opposite strand"", ""CLRN1 antisense RNA 1 (non-protein coding)"""	CLRN1OS		11524702	Standard	NR_024066		Approved	UCRP	uc011bny.1		OTTHUMG00000159846		3.37:g.150784178G>A				RNA	SNP	-	NULL	ENST00000476886.1	37	NULL		3																																																																																			CLRN1-AS1	-	-	ENSG00000239265		0.343	CLRN1-AS1-001	KNOWN	basic	antisense	CLRN1-AS1	HGNC	antisense	OTTHUMT00000357695.2	-	0.00	62	0	G			150784178	+1	tier1	-	no_errors	ENST00000465576	ensembl	human	known	74_37	rna	40.85	42	29	SNP	0.026	A
CNGA1	1259	genome.wustl.edu	37	4	47954661	47954661	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr4:47954661G>A	ENST00000514170.1	-	4	377	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	CNGA1_ENST00000544810.1_Missense_Mutation_p.P20S|CNGA1_ENST00000358519.4_Missense_Mutation_p.P20S|CNGA1_ENST00000420489.2_Missense_Mutation_p.P20S|CNGA1_ENST00000402813.3_Missense_Mutation_p.P89S			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	20					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						ATCACATTGGGCATGGTTACA	0.338																																																	0													132.0	123.0	126.0					4																	47954661		1847	4088	5935	SO:0001583	missense	0			M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.58C>T	4.37:g.47954661G>A	ENSP00000426862:p.Pro20Ser		A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.P89S	ENST00000514170.1	37	c.265	CCDS43226.1	4	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579988	0.46006	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489;ENST00000504722;ENST00000514520;ENST00000513178	T;T;T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77	5.1	4.25	0.50352	.	0.093954	0.46145	D	0.000305	T	0.25680	0.0625	M	0.63843	1.955	0.33815	D	0.628335	P;P	0.37061	0.58;0.58	B;B	0.35114	0.196;0.196	T	0.39781	-0.9597	10	0.27082	T	0.32	.	12.4168	0.55498	0.0:0.0:0.8316:0.1684	.	20;20	Q4W5E3;P29973	.;CNGA1_HUMAN	S	89;20;20;20;20;20;20;20	ENSP00000384264:P89S;ENSP00000426862:P20S;ENSP00000443401:P20S;ENSP00000351320:P20S;ENSP00000389881:P20S;ENSP00000423721:P20S;ENSP00000421110:P20S;ENSP00000423327:P20S	ENSP00000351320:P20S	P	-	1	0	CNGA1	47649418	0.998000	0.40836	0.896000	0.35187	0.294000	0.27393	3.469000	0.53093	1.495000	0.48549	-0.324000	0.08512	CCC	CNGA1	-	NULL	ENSG00000198515		0.338	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	CNGA1	HGNC	protein_coding	OTTHUMT00000372070.2	-	0.00	59	0	G	NM_000087		47954661	-1	tier1	-	no_errors	ENST00000402813	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.957	A
CNPY2	10330	genome.wustl.edu	37	12	56705097	56705097	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:56705097G>T	ENST00000273308.4	-	4	846	c.306C>A	c.(304-306)cgC>cgA	p.R102R	RP11-977G19.11_ENST00000549860.1_RNA|CNPY2_ENST00000551720.1_5'Flank|RP11-977G19.12_ENST00000546789.1_RNA|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.10_ENST00000549318.1_Silent_p.R102R	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	102	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						CGTAGTTCTTGCGATGGGTGG	0.532																																																	0													222.0	202.0	209.0					12																	56705097		2203	4300	6503	SO:0001819	synonymous_variant	0			AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330	ENST00000273308.4:c.306C>A	12.37:g.56705097G>T			B2R7B9|Q9UHE9	Silent	SNP	pfam_DUF3456,superfamily_Saposin-like,pfscan_SaposinB	p.R102	ENST00000273308.4	37	c.306	CCDS8914.1	12																																																																																			CNPY2	-	pfam_DUF3456,superfamily_Saposin-like,pfscan_SaposinB	ENSG00000257727		0.532	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNPY2	HGNC	protein_coding	OTTHUMT00000408546.1	-	0.00	49	0	G	NM_014255		56705097	-1	tier1	-	no_errors	ENST00000273308	ensembl	human	known	74_37	silent	6.78	55	4	SNP	0.994	T
CNTN3	5067	genome.wustl.edu	37	3	74419075	74419075	+	Silent	SNP	A	A	C			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:74419075A>C	ENST00000263665.6	-	6	753	c.726T>G	c.(724-726)ggT>ggG	p.G242G		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	242	Ig-like C2-type 3.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TCACAGTCGAACCTTTAGCTG	0.343																																																	0													98.0	100.0	99.0					3																	74419075		2203	4298	6501	SO:0001819	synonymous_variant	0			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.726T>G	3.37:g.74419075A>C			B9EK50|Q9H039	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G242	ENST00000263665.6	37	c.726	CCDS33790.1	3																																																																																			CNTN3	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000113805		0.343	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	-	0.00	92	0	A	NM_020872		74419075	-1	tier1	-	no_errors	ENST00000263665	ensembl	human	known	74_37	silent	39.53	51	34	SNP	0.955	C
COL19A1	1310	genome.wustl.edu	37	6	70589540	70589540	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:70589540G>T	ENST00000322773.4	+	2	183	c.81G>T	c.(79-81)agG>agT	p.R27S	COL19A1_ENST00000476656.1_3'UTR	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	27					cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TGACCGTTAGGGACAAGACAG	0.413																																																	0													142.0	111.0	122.0					6																	70589540		2203	4300	6503	SO:0001583	missense	0				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.81G>T	6.37:g.70589540G>T	ENSP00000316030:p.Arg27Ser		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.R27S	ENST00000322773.4	37	c.81	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	G	6.016	0.371415	0.11409	.	.	ENSG00000082293	ENST00000322773	T	0.37915	1.17	5.73	0.244	0.15507	.	0.133094	0.46145	D	0.000307	T	0.13329	0.0323	L	0.56769	1.78	0.80722	D	1	B	0.14438	0.01	B	0.08055	0.003	T	0.05517	-1.0880	10	0.42905	T	0.14	.	4.2846	0.10848	0.5126:0.0:0.3195:0.1679	.	27	Q14993	COJA1_HUMAN	S	27	ENSP00000316030:R27S	ENSP00000316030:R27S	R	+	3	2	COL19A1	70646261	0.989000	0.36119	0.954000	0.39281	0.083000	0.17756	-0.031000	0.12287	0.102000	0.17638	-0.233000	0.12211	AGG	COL19A1	-	NULL	ENSG00000082293		0.413	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	-	0.00	79	0	G			70589540	+1	tier1	-	no_errors	ENST00000322773	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.969	T
COL3A1	1281	genome.wustl.edu	37	2	189873924	189873924	+	Missense_Mutation	SNP	T	T	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:189873924T>A	ENST00000304636.3	+	48	3970	c.3800T>A	c.(3799-3801)tTc>tAc	p.F1267Y	COL3A1_ENST00000317840.5_Missense_Mutation_p.F964Y	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1267	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GACCTGAAATTCTGCCATCCT	0.398																																																	0													56.0	61.0	59.0					2																	189873924		2203	4300	6503	SO:0001583	missense	0			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3800T>A	2.37:g.189873924T>A	ENSP00000304408:p.Phe1267Tyr		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.F1267Y	ENST00000304636.3	37	c.3800	CCDS2297.1	2	.	.	.	.	.	.	.	.	.	.	T	20.7	4.030705	0.75504	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	T;T	0.73047	-0.71;-0.71	5.6	5.6	0.85130	Fibrillar collagen, C-terminal (3);	0.000000	0.53938	D	0.000045	T	0.63815	0.2543	N	0.25144	0.715	0.31275	N	0.691275	D	0.59767	0.986	P	0.53006	0.715	T	0.60994	-0.7152	10	0.02654	T	1	.	15.7802	0.78255	0.0:0.0:0.0:1.0	.	1267	P02461	CO3A1_HUMAN	Y	1267;964	ENSP00000304408:F1267Y;ENSP00000315243:F964Y	ENSP00000304408:F1267Y	F	+	2	0	COL3A1	189582169	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.040000	0.89188	2.125000	0.65367	0.482000	0.46254	TTC	COL3A1	-	pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C	ENSG00000168542		0.398	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3	-	0.00	50	0	T	NM_000090		189873924	+1	tier1	-	no_errors	ENST00000304636	ensembl	human	known	74_37	missense	55.56	20	25	SNP	1.000	A
COL4A2	1284	genome.wustl.edu	37	13	111130299	111130299	+	Intron	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr13:111130299G>T	ENST00000360467.5	+	30	2731					NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGCTGTCTGTGATGAACAGTC	0.502																																																	0													22.0	25.0	24.0					13																	111130299		1951	4161	6112	SO:0001627	intron_variant	0			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2426-51G>T	13.37:g.111130299G>T			Q14052|Q548C3|Q5VZA9|Q66K23	RNA	SNP	-	NULL	ENST00000360467.5	37	NULL	CCDS41907.1	13																																																																																			COL4A2	-	-	ENSG00000134871		0.502	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2	-	0.00	57	0	G	NM_001846		111130299	+1	tier1	-	no_errors	ENST00000483683	ensembl	human	known	74_37	rna	10.00	45	5	SNP	0.000	T
COL5A1	1289	genome.wustl.edu	37	9	137620555	137620555	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:137620555G>T	ENST00000371817.3	+	6	1240	c.826G>T	c.(826-828)Gaa>Taa	p.E276*		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	276	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.E276K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTATTACTACGAATACCCCTA	0.607																																																	1	Substitution - Missense(1)	endometrium(1)											130.0	137.0	135.0					9																	137620555		2203	4300	6503	SO:0001587	stop_gained	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.826G>T	9.37:g.137620555G>T	ENSP00000360882:p.Glu276*		Q15094|Q5SUX4	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.E276*	ENST00000371817.3	37	c.826	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	G	39	7.821937	0.98507	.	.	ENSG00000130635	ENST00000371817	.	.	.	4.24	4.24	0.50183	.	0.782790	0.11018	U	0.608728	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	16.6111	0.84883	0.0:0.0:1.0:0.0	.	.	.	.	X	276	.	ENSP00000360882:E276X	E	+	1	0	COL5A1	136760376	1.000000	0.71417	0.997000	0.53966	0.223000	0.24884	8.346000	0.90060	1.899000	0.54978	0.462000	0.41574	GAA	COL5A1	-	NULL	ENSG00000130635		0.607	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	-	0.00	115	0	G	NM_000093		137620555	+1	tier1	-	no_errors	ENST00000371817	ensembl	human	known	74_37	nonsense	5.32	89	5	SNP	1.000	T
COL6A5	256076	genome.wustl.edu	37	3	130129368	130129368	+	Splice_Site	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:130129368G>T	ENST00000432398.2	+	20	5156	c.4662G>T	c.(4660-4662)agG>agT	p.R1554S	COL6A5_ENST00000265379.6_Splice_Site_p.R1554S	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1554	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GAGGCAGCAGGGTAAGTATTT	0.418																																																	0													91.0	71.0	77.0					3																	130129368		692	1591	2283	SO:0001630	splice_region_variant	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.4662+1G>T	3.37:g.130129368G>T			A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.R1554S	ENST00000432398.2	37	c.4662		3	.	.	.	.	.	.	.	.	.	.	G	8.448	0.852356	0.17106	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.96011	-3.88;-3.88	5.64	1.26	0.21427	.	.	.	.	.	D	0.90277	0.6959	L	0.52206	1.635	0.22066	N	0.999381	B	0.24576	0.106	B	0.26416	0.069	T	0.76340	-0.2995	9	0.09843	T	0.71	.	2.7181	0.05193	0.397:0.0:0.399:0.204	.	1554	A8TX70-2	.	S	1554	ENSP00000390895:R1554S;ENSP00000265379:R1554S	ENSP00000265379:R1554S	R	+	3	2	COL6A5	131612058	0.591000	0.26824	0.842000	0.33263	0.435000	0.31806	0.641000	0.24720	0.321000	0.23259	0.650000	0.86243	AGG	COL6A5	-	pfam_Collagen	ENSG00000172752		0.418	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		-	0.00	56	0	G	NM_153264	Missense_Mutation	130129368	+1	tier1	-	no_errors	ENST00000265379	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.556	T
CPNE8	144402	genome.wustl.edu	37	12	39223209	39223209	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:39223209G>T	ENST00000331366.5	-	6	475	c.379C>A	c.(379-381)Cag>Aag	p.Q127K	CPNE8_ENST00000360449.3_Missense_Mutation_p.Q115K	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	127						extracellular vesicular exosome (GO:0070062)		p.?(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CGACTTCCCTGTGAACCAACG	0.348																																																	1	Unknown(1)	NS(1)											152.0	162.0	159.0					12																	39223209		2203	4300	6503	SO:0001583	missense	0			AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.379C>A	12.37:g.39223209G>T	ENSP00000329748:p.Gln127Lys		Q2TB41|Q86VY2	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.Q127K	ENST00000331366.5	37	c.379	CCDS8733.1	12	.	.	.	.	.	.	.	.	.	.	G	3.958	-0.010831	0.07727	.	.	ENSG00000139117	ENST00000331366;ENST00000360449	T;T	0.41400	1.0;1.0	3.85	3.85	0.44370	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.308466	0.27198	N	0.020465	T	0.20373	0.0490	N	0.10645	0.015	0.42114	D	0.991393	B	0.16603	0.018	B	0.20184	0.028	T	0.09862	-1.0655	10	0.02654	T	1	-9.006	13.5458	0.61702	0.0:0.0:1.0:0.0	.	127	Q86YQ8	CPNE8_HUMAN	K	127;115	ENSP00000329748:Q127K;ENSP00000353633:Q115K	ENSP00000329748:Q127K	Q	-	1	0	CPNE8	37509476	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.156000	0.64905	2.068000	0.61886	0.563000	0.77884	CAG	CPNE8	-	superfamily_C2_dom,smart_C2_dom	ENSG00000139117		0.348	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE8	HGNC	protein_coding	OTTHUMT00000403856.1		0.00	51	0	G	NM_153634		39223209	-1			no_errors	ENST00000331366	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
CPSF6	11052	genome.wustl.edu	37	12	69652850	69652850	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:69652850G>T	ENST00000435070.2	+	6	1285	c.1175G>T	c.(1174-1176)aGg>aTg	p.R392M	CPSF6_ENST00000456847.3_Missense_Mutation_p.R319M|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.R429M	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	392	Pro-rich.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CCATATGATAGGGGTGACTAT	0.453																																																	0													61.0	62.0	62.0					12																	69652850		2203	4300	6503	SO:0001583	missense	0			X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1175G>T	12.37:g.69652850G>T	ENSP00000391774:p.Arg392Met		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R429M	ENST00000435070.2	37	c.1286	CCDS8988.1	12	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540731	0.65085	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	.	.	.	4.99	4.99	0.66335	.	0.138378	0.64402	D	0.000004	T	0.58090	0.2098	N	0.08118	0	0.80722	D	1	D;D;D	0.64830	0.984;0.994;0.99	D;D;D	0.74348	0.919;0.983;0.962	T	0.59820	-0.7382	8	.	.	.	-1.7326	18.8343	0.92155	0.0:0.0:1.0:0.0	.	140;429;392	B4DSU9;Q16630-2;Q16630	.;.;CPSF6_HUMAN	M	392;319;429	.	.	R	+	2	0	CPSF6	67939117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.991000	0.88244	2.761000	0.94854	0.563000	0.77884	AGG	CPSF6	-	NULL	ENSG00000111605		0.453	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF6	HGNC	protein_coding	OTTHUMT00000403609.1		0.00	27	0	G	NM_007007		69652850	+1			no_errors	ENST00000266679	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	T
COQ5	84274	genome.wustl.edu	37	12	120960119	120960119	+	Missense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:120960119C>A	ENST00000288532.6	-	2	290	c.250G>T	c.(250-252)Gat>Tat	p.D84Y	COQ5_ENST00000445328.2_Missense_Mutation_p.D84Y	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	84					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCATCATATCATTCATCACA	0.448																																																	0													237.0	196.0	210.0					12																	120960119		2203	4300	6503	SO:0001583	missense	0			AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.250G>T	12.37:g.120960119C>A	ENSP00000288532:p.Asp84Tyr		B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_11,pfam_Methyltransf_12,tigrfam_UbiE/COQ5_MeTrFase	p.D84Y	ENST00000288532.6	37	c.250	CCDS31912.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.219858	0.95139	.	.	ENSG00000110871	ENST00000288532;ENST00000302223;ENST00000445328;ENST00000552443;ENST00000551769;ENST00000547736	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.91	5.91	0.95273	UbiE/COQ5 methyltransferase, conserved site (1);	0.085700	0.85682	D	0.000000	D	0.89227	0.6655	H	0.97516	4.02	0.45883	D	0.998736	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92222	0.5785	10	0.87932	D	0	.	19.905	0.97004	0.0:1.0:0.0:0.0	.	84;84	B4DP72;Q5HYK3	.;COQ5_HUMAN	Y	84;84;84;3;3;58	ENSP00000288532:D84Y;ENSP00000401798:D84Y;ENSP00000449863:D3Y;ENSP00000450001:D3Y;ENSP00000449933:D58Y	ENSP00000288532:D84Y	D	-	1	0	COQ5	119444502	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.594000	0.82698	2.804000	0.96469	0.462000	0.41574	GAT	COQ5	-	pfam_UbiE/COQ5_MeTrFase	ENSG00000110871		0.448	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ5	HGNC	protein_coding	OTTHUMT00000403767.2	-	0.00	41	0	C	NM_032314		120960119	-1	tier1	-	no_errors	ENST00000288532	ensembl	human	known	74_37	missense	7.94	58	5	SNP	1.000	A
CRHBP	1393	genome.wustl.edu	37	5	76264603	76264603	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:76264603G>T	ENST00000274368.4	+	7	1284	c.862G>T	c.(862-864)Gga>Tga	p.G288*	CRHBP_ENST00000514258.1_Intron	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	288					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)			kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		GGTCTCCAGTGGAAAACACGT	0.463																																																	0													142.0	128.0	132.0					5																	76264603		2203	4300	6503	SO:0001587	stop_gained	0			X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"""corticotropin releasing hormone-binding protein"""			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.862G>T	5.37:g.76264603G>T	ENSP00000274368:p.Gly288*		Q53F32|Q6FHT5	Nonsense_Mutation	SNP	pfam_CRF-bd,superfamily_CUB_dom,pirsf_CRF-bd	p.G288*	ENST00000274368.4	37	c.862	CCDS4034.1	5	.	.	.	.	.	.	.	.	.	.	G	41	8.726831	0.98931	.	.	ENSG00000145708	ENST00000274368	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.2852	19.4769	0.94992	0.0:0.0:1.0:0.0	.	.	.	.	X	288	.	ENSP00000274368:G288X	G	+	1	0	CRHBP	76300359	1.000000	0.71417	0.983000	0.44433	0.949000	0.60115	9.355000	0.97087	2.668000	0.90789	0.655000	0.94253	GGA	CRHBP	-	pfam_CRF-bd,pirsf_CRF-bd	ENSG00000145708		0.463	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRHBP	HGNC	protein_coding	OTTHUMT00000219972.2	-	0.00	67	0	G	NM_001882		76264603	+1	tier1	-	no_errors	ENST00000274368	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	1.000	T
CSF1R	1436	genome.wustl.edu	37	5	149447857	149447857	+	Missense_Mutation	SNP	G	G	T	rs201012043		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:149447857G>T	ENST00000286301.3	-	11	1838	c.1547C>A	c.(1546-1548)aCa>aAa	p.T516K	CSF1R_ENST00000515239.1_5'Flank	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	516					cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CACCACTGGTGTGAAGAGGAA	0.617																																																	0													103.0	90.0	95.0					5																	149447857		2203	4300	6503	SO:0001583	missense	0			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1547C>A	5.37:g.149447857G>T	ENSP00000286301:p.Thr516Lys		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T516K	ENST00000286301.3	37	c.1547	CCDS4302.1	5	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282450	0.40394	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	T	0.79033	-1.23	4.1	3.23	0.37069	.	0.116424	0.38436	N	0.001682	D	0.82314	0.5010	M	0.72353	2.195	0.80722	D	1	D;P	0.63046	0.992;0.741	P;B	0.59221	0.854;0.178	T	0.82520	-0.0416	10	0.66056	D	0.02	.	7.7612	0.28953	0.1118:0.0:0.8882:0.0	.	368;516	B4E2Y8;P07333	.;CSF1R_HUMAN	K	516;368	ENSP00000286301:T516K	ENSP00000286301:T516K	T	-	2	0	CSF1R	149428050	0.996000	0.38824	0.856000	0.33681	0.249000	0.25844	3.817000	0.55668	1.306000	0.44926	0.561000	0.74099	ACA	CSF1R	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	ENSG00000182578		0.617	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	HGNC	protein_coding	OTTHUMT00000252329.2	-	0.00	38	0	G	NM_005211		149447857	-1	tier1	-	no_errors	ENST00000286301	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.857	T
CSF1R	1436	genome.wustl.edu	37	5	149453043	149453043	+	Missense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:149453043C>A	ENST00000286301.3	-	7	1194	c.903G>T	c.(901-903)ttG>ttT	p.L301F	CSF1R_ENST00000543093.1_Intron	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	301	Ig-like C2-type 4.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)	p.L301F(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AGCTCAAGTTCAAGTAGGCAC	0.507																																																	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)											103.0	94.0	97.0					5																	149453043		2203	4300	6503	SO:0001583	missense	0			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.903G>T	5.37:g.149453043C>A	ENSP00000286301:p.Leu301Phe		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L301F	ENST00000286301.3	37	c.903	CCDS4302.1	5	.	.	.	.	.	.	.	.	.	.	C	9.021	0.984775	0.18889	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	T	0.78246	-1.16	4.81	3.93	0.45458	Immunoglobulin-like fold (1);	0.865376	0.09569	N	0.784385	T	0.74435	0.3716	L	0.57536	1.79	0.80722	D	1	B;P	0.48230	0.382;0.907	B;B	0.41988	0.133;0.372	T	0.71073	-0.4698	10	0.87932	D	0	.	8.2202	0.31537	0.0:0.8859:0.0:0.1141	.	153;301	B4E2Y8;P07333	.;CSF1R_HUMAN	F	301;153	ENSP00000286301:L301F	ENSP00000286301:L301F	L	-	3	2	CSF1R	149433236	1.000000	0.71417	0.997000	0.53966	0.054000	0.15201	2.100000	0.41777	0.996000	0.38943	0.655000	0.94253	TTG	CSF1R	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	ENSG00000182578		0.507	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	HGNC	protein_coding	OTTHUMT00000252329.2		0.00	41	0	C	NM_005211		149453043	-1			no_errors	ENST00000286301	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.998	A
CSGALNACT2	55454	genome.wustl.edu	37	10	43651097	43651097	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:43651097C>T	ENST00000374466.3	+	2	835	c.500C>T	c.(499-501)cCt>cTt	p.P167L	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.P167L	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	167					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACTCGCCATCCTGAAGAAAAG	0.408																																																	0													94.0	94.0	94.0					10																	43651097		2203	4300	6503	SO:0001583	missense	0			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.500C>T	10.37:g.43651097C>T	ENSP00000363590:p.Pro167Leu		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	pfam_Chond_GalNAc	p.P167L	ENST00000374466.3	37	c.500	CCDS7201.1	10	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454231	0.84209	.	.	ENSG00000169826	ENST00000374466;ENST00000374464	T;T	0.15139	2.45;2.45	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.51196	-0.8736	10	0.87932	D	0	-12.5311	20.0637	0.97700	0.0:1.0:0.0:0.0	.	167;167	Q8N6G5;Q8N6G5-2	CGAT2_HUMAN;.	L	167	ENSP00000363590:P167L;ENSP00000363588:P167L	ENSP00000363588:P167L	P	+	2	0	CSGALNACT2	42971103	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.751000	0.94390	0.650000	0.86243	CCT	CSGALNACT2	-	pfam_Chond_GalNAc	ENSG00000169826		0.408	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSGALNACT2	HGNC	protein_coding	OTTHUMT00000047693.1	-	0.00	70	0	C	NM_018590		43651097	+1	tier1	-	no_errors	ENST00000374466	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
CSMD1	64478	genome.wustl.edu	37	8	2857615	2857615	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr8:2857615G>A	ENST00000520002.1	-	54	8626	c.8071C>T	c.(8071-8073)Cac>Tac	p.H2691Y	CSMD1_ENST00000602557.1_Missense_Mutation_p.H2691Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.H2633Y|CSMD1_ENST00000537824.1_Missense_Mutation_p.H2690Y|CSMD1_ENST00000602723.1_Missense_Mutation_p.H2633Y|CSMD1_ENST00000542608.1_Missense_Mutation_p.H2632Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2691	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCACTAATGTGACCGTTCACA	0.443																																																	0													95.0	94.0	94.0					8																	2857615		1904	4128	6032	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8071C>T	8.37:g.2857615G>A	ENSP00000430733:p.His2691Tyr		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.H2691Y	ENST00000520002.1	37	c.8071		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.29|18.29	3.592327|3.592327	0.66219|0.66219	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.63417|.	-0.04;-0.04;-0.04;-0.04|.	5.77|5.77	5.77|5.77	0.91146|0.91146	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.49660|0.49660	0.1570|0.1570	N|N	0.10916|0.10916	0.065|0.065	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.969;0.982;0.997|.	D;D;D|.	0.81914|.	0.968;0.909;0.995|.	T|T	0.41662|0.41662	-0.9496|-0.9496	10|5	0.25751|.	T|.	0.34|.	.|.	20.3473|20.3473	0.98799|0.98799	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2691;2691;2632|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	Y|L	2633;2691;2552;2690;2632|2107	ENSP00000383047:H2633Y;ENSP00000430733:H2691Y;ENSP00000441462:H2690Y;ENSP00000446243:H2632Y|.	ENSP00000320445:H2552Y|.	H|S	-|-	1|2	0|0	CSMD1|CSMD1	2845022|2845022	1.000000|1.000000	0.71417|0.71417	0.291000|0.291000	0.24904|0.24904	0.029000|0.029000	0.11900|0.11900	7.567000|7.567000	0.82357|0.82357	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	CAC|TCA	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.443	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0.00	47	0	G	NM_033225		2857615	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.998	A
CSMD1	64478	genome.wustl.edu	37	8	2976017	2976017	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr8:2976017C>A	ENST00000520002.1	-	43	6892	c.6337G>T	c.(6337-6339)Gag>Tag	p.E2113*	CSMD1_ENST00000602557.1_Nonsense_Mutation_p.E2113*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.E2113*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.E2112*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.E2113*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.E2112*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2113	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.E1841*(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGATAACACTCGAAAGATACT	0.448																																																	1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)											158.0	155.0	156.0					8																	2976017		2025	4171	6196	SO:0001587	stop_gained	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6337G>T	8.37:g.2976017C>A	ENSP00000430733:p.Glu2113*		Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.E2113*	ENST00000520002.1	37	c.6337		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.601701|12.601701	0.99681|0.99681	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	.|.	.|.	.|.	5.03|5.03	0.699|0.699	0.18093|0.18093	.|.	0.226724|.	0.36778|.	N|.	0.002401|.	.|T	.|0.59838	.|0.2223	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.55835	.|-0.8078	.|4	0.59425|.	D|.	0.04|.	.|.	11.8243|11.8243	0.52259|0.52259	0.1277:0.5016:0.3706:0.0|0.1277:0.5016:0.3706:0.0	.|.	.|.	.|.	.|.	X|L	2113;2113;1974;2112;2112|1592	.|.	ENSP00000320445:E1974X|.	E|R	-|-	1|2	0|0	CSMD1|CSMD1	2963424|2963424	1.000000|1.000000	0.71417|0.71417	0.005000|0.005000	0.12908|0.12908	0.024000|0.024000	0.10985|0.10985	3.158000|3.158000	0.50723|0.50723	0.193000|0.193000	0.20303|0.20303	-0.300000|-0.300000	0.09419|0.09419	GAG|CGA	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.448	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0.00	81	0	C	NM_033225		2976017	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	nonsense	6.06	62	4	SNP	0.973	A
CTNNA2	1496	genome.wustl.edu	37	2	80085246	80085246	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:80085246C>T	ENST00000402739.4	+	3	411	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	CTNNA2_ENST00000540488.1_Missense_Mutation_p.R136C|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R136C|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R136C|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R170C|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R136C	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	136					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.R136C(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGCGGTGACACGCTTACTCAT	0.512																																																	2	Substitution - Missense(2)	pancreas(2)											77.0	77.0	77.0					2																	80085246		2067	4188	6255	SO:0001583	missense	0				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.406C>T	2.37:g.80085246C>T	ENSP00000384638:p.Arg136Cys		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.R170C	ENST00000402739.4	37	c.508		2	.	.	.	.	.	.	.	.	.	.	C	35	5.526062	0.96431	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.76198	0.3954	M	0.90145	3.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.984;0.993;0.961	T	0.80788	-0.1226	10	0.87932	D	0	.	19.773	0.96379	0.0:1.0:0.0:0.0	.	136;136;136	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	C	136;136;170;136;136;136	ENSP00000418191:R136C;ENSP00000419295:R136C;ENSP00000355398:R170C;ENSP00000384638:R136C;ENSP00000444675:R136C;ENSP00000441705:R136C	ENSP00000355398:R170C	R	+	1	0	CTNNA2	79938754	1.000000	0.71417	0.913000	0.36048	0.946000	0.59487	7.818000	0.86416	2.677000	0.91161	0.655000	0.94253	CGC	CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin	ENSG00000066032		0.512	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	-	0.00	37	0	C	NM_004389		80085246	+1	tier1	-	no_errors	ENST00000361291	ensembl	human	known	74_37	missense	26.92	19	7	SNP	1.000	T
CTU2	348180	genome.wustl.edu	37	16	88778735	88778735	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:88778735G>T	ENST00000453996.2	+	6	465	c.397G>T	c.(397-399)Gtg>Ttg	p.V133L	CTU2_ENST00000567949.1_Missense_Mutation_p.V204L|CTU2_ENST00000378384.3_Missense_Mutation_p.V46L|CTU2_ENST00000312060.5_Missense_Mutation_p.V133L	NM_001012759.1	NP_001012777.1			cytosolic thiouridylase subunit 2 homolog (S. pombe)											NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						CCTGGCCGAAGTGAAGCCCAT	0.607																																																	0													51.0	52.0	51.0					16																	88778735		2197	4296	6493	SO:0001583	missense	0			BC021056	CCDS32506.1, CCDS45545.1	16q24.3	2013-10-11	2009-08-19	2009-08-19		ENSG00000174177			28005	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 84"""	C16orf84		19017811	Standard	NM_001012759		Approved	NCS2	uc002flm.3	Q2VPK5		ENST00000453996.2:c.397G>T	16.37:g.88778735G>T	ENSP00000388320:p.Val133Leu			Missense_Mutation	SNP	pfam_Thiouridylase_cyt_su2	p.V204L	ENST00000453996.2	37	c.610	CCDS45545.1	16	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347489	0.24426	.	.	ENSG00000174177	ENST00000378384;ENST00000312060;ENST00000453996	T;T;T	0.19105	2.17;2.17;2.17	4.21	-0.168	0.13343	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.528555	0.18796	N	0.130934	T	0.12944	0.0314	L	0.37630	1.12	0.21105	N	0.999787	B;B;B	0.20780	0.048;0.023;0.013	B;B;B	0.21360	0.034;0.007;0.002	T	0.36237	-0.9756	10	0.12430	T	0.62	.	8.5465	0.33424	0.3497:0.0:0.6503:0.0	.	46;133;133	Q2VPK5-3;Q2VPK5-5;Q2VPK5	.;.;CTU2_HUMAN	L	46;133;133	ENSP00000367635:V46L;ENSP00000308617:V133L;ENSP00000388320:V133L	ENSP00000308617:V133L	V	+	1	0	CTU2	87306236	0.000000	0.05858	0.009000	0.14445	0.068000	0.16541	0.201000	0.17276	0.050000	0.15949	0.305000	0.20034	GTG	CTU2	-	NULL	ENSG00000174177		0.607	CTU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTU2	HGNC	protein_coding	OTTHUMT00000423025.1	-	0.00	72	0	G	NM_001012762		88778735	+1	tier1	-	no_errors	ENST00000567949	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.378	T
CYB5RL	606495	genome.wustl.edu	37	1	54644957	54644957	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:54644957G>T	ENST00000534324.1	-	5	608	c.609C>A	c.(607-609)atC>atA	p.I203I	CYB5RL_ENST00000537208.1_Intron|CYB5RL_ENST00000419823.2_Silent_p.I203I|CYB5RL_ENST00000401046.3_Silent_p.I55I|CYB5RL_ENST00000287899.8_Intron|RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000542737.1_Silent_p.I203I			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	203							cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						CATTGTCTGTGATGCTCTGCA	0.547																																																	0													59.0	63.0	61.0					1																	54644957		2000	4170	6170	SO:0001819	synonymous_variant	0				CCDS44151.1	1p32.3	2011-04-08			ENSG00000215883	ENSG00000215883			32220	protein-coding gene	gene with protein product						12477932	Standard	NM_001031672		Approved	LOC606495	uc009vzo.3	Q6IPT4	OTTHUMG00000008082	ENST00000534324.1:c.609C>A	1.37:g.54644957G>T			B7ZBS4|Q8NF25	Silent	SNP	pfam_OxRdtase_FAD-bd_dom,pfam_Oxidoreductase-like_N,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Phe_hydroxylase	p.I203	ENST00000534324.1	37	c.609	CCDS44151.1	1																																																																																			CYB5RL	-	pfam_OxRdtase_FAD/NAD-bd,prints_NADH-Cyt_B5_reductase,prints_Phe_hydroxylase	ENSG00000215883		0.547	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CYB5RL	HGNC	protein_coding	OTTHUMT00000388318.1	-	0.00	49	0	G	NM_001031672		54644957	-1	tier1	-	no_errors	ENST00000419823	ensembl	human	known	74_37	silent	8.51	43	4	SNP	1.000	T
LOC440602	440602	genome.wustl.edu	37	1	111031223	111031223	+	lincRNA	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:111031223G>T	ENST00000457402.1	-	0	1429				CYMP_ENST00000420853.1_RNA																							GGATACCCATGACTGCAAGAA	0.602																																																	0																																												0																															1.37:g.111031223G>T				RNA	SNP	-	NULL	ENST00000457402.1	37	NULL		1																																																																																			CYMP	-	-	ENSG00000240194		0.602	RP11-470L19.2-001	KNOWN	basic	lincRNA	CYMP	HGNC	lincRNA	OTTHUMT00000059079.1	-	0.00	43	0	G			111031223	+1	tier1	-	no_errors	ENST00000420853	ensembl	human	known	74_37	rna	11.76	30	4	SNP	0.996	T
CYP4F2	8529	genome.wustl.edu	37	19	15990453	15990453	+	Silent	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:15990453G>A	ENST00000221700.6	-	11	1370	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GATGGGTTCCGAAAACACTGA	0.592																																																	0													123.0	130.0	128.0					19																	15990453		2203	4300	6503	SO:0001819	synonymous_variant	0			U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1275C>T	19.37:g.15990453G>A				Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.F425	ENST00000221700.6	37	c.1275	CCDS12336.1	19																																																																																			CYP4F2	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II	ENSG00000186115		0.592	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F2	HGNC	protein_coding	OTTHUMT00000460372.3	-	0.00	69	0	G	NM_001082		15990453	-1	tier1	-	no_errors	ENST00000221700	ensembl	human	known	74_37	silent	44.68	26	21	SNP	0.915	A
CYP4F2	8529	genome.wustl.edu	37	19	16001157	16001157	+	Missense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:16001157C>A	ENST00000221700.6	-	6	707	c.612G>T	c.(610-612)caG>caT	p.Q204H	CYP4F2_ENST00000011989.7_Missense_Mutation_p.Q55H	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGACACATTTCTGTAGACTGT	0.532																																																	0													120.0	110.0	113.0					19																	16001157		2203	4300	6503	SO:0001583	missense	0			U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.612G>T	19.37:g.16001157C>A	ENSP00000221700:p.Gln204His			Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.Q204H	ENST00000221700.6	37	c.612	CCDS12336.1	19	.	.	.	.	.	.	.	.	.	.	c	9.370	1.070286	0.20147	.	.	ENSG00000186115	ENST00000221700;ENST00000392846;ENST00000011989	T;T	0.68181	-0.31;1.58	3.07	1.99	0.26369	.	0.121018	0.33161	U	0.005207	T	0.75177	0.3814	M	0.73598	2.24	0.25887	N	0.983522	D;D	0.76494	0.999;0.997	D;D	0.73708	0.981;0.971	T	0.64045	-0.6499	10	0.87932	D	0	.	3.9859	0.09516	0.2303:0.6369:0.0:0.1328	.	55;204	B4DV75;P78329	.;CP4F2_HUMAN	H	204;55;55	ENSP00000221700:Q204H;ENSP00000011989:Q55H	ENSP00000011989:Q55H	Q	-	3	2	CYP4F2	15862157	0.965000	0.33210	1.000000	0.80357	0.606000	0.37113	0.004000	0.13106	0.590000	0.29694	0.195000	0.17529	CAG	CYP4F2	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II	ENSG00000186115		0.532	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F2	HGNC	protein_coding	OTTHUMT00000460372.3	-	0.00	70	0	C	NM_001082		16001157	-1	tier1	-	no_errors	ENST00000221700	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A
DAAM2	23500	genome.wustl.edu	37	6	39864622	39864622	+	Missense_Mutation	SNP	C	C	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:39864622C>G	ENST00000398904.2	+	20	2558	c.2376C>G	c.(2374-2376)agC>agG	p.S792R	RP11-61I13.3_ENST00000437947.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.S792R|DAAM2_ENST00000538976.1_Missense_Mutation_p.S792R			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	792	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGGTCCGCAGCAAGCGTCTTA	0.622																																																	0													24.0	29.0	27.0					6																	39864622		2012	4172	6184	SO:0001583	missense	0			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2376C>G	6.37:g.39864622C>G	ENSP00000381876:p.Ser792Arg		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin	p.S792R	ENST00000398904.2	37	c.2376	CCDS56426.1	6	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937905	0.73557	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.71934	-0.61;-0.61;-0.61	5.03	5.03	0.67393	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.099963	0.64402	D	0.000002	D	0.85682	0.5753	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	D	0.88511	0.3089	10	0.87932	D	0	.	10.815	0.46571	0.0:0.9126:0.0:0.0874	.	792;792	G5EA45;Q86T65	.;DAAM2_HUMAN	R	792	ENSP00000274867:S792R;ENSP00000381876:S792R;ENSP00000437808:S792R	ENSP00000274867:S792R	S	+	3	2	DAAM2	39972600	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.953000	0.49105	2.608000	0.88229	0.561000	0.74099	AGC	DAAM2	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000146122		0.622	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	-	0.00	31	0	C			39864622	+1	tier1	-	no_errors	ENST00000274867	ensembl	human	known	74_37	missense	17.95	32	7	SNP	1.000	G
DCLRE1A	9937	genome.wustl.edu	37	10	115596896	115596896	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:115596896C>A	ENST00000361384.2	-	8	3804	c.2887G>T	c.(2887-2889)Gga>Tga	p.G963*	DCLRE1A_ENST00000369305.1_Nonsense_Mutation_p.G963*	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	963					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TGTGTCCATCCTGTAGGTCGA	0.353								Other identified genes with known or suspected DNA repair function																																									0													202.0	192.0	195.0					10																	115596896		2203	4300	6503	SO:0001587	stop_gained	0				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.2887G>T	10.37:g.115596896C>A	ENSP00000355185:p.Gly963*		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Nonsense_Mutation	SNP	pfam_DRMBL	p.G963*	ENST00000361384.2	37	c.2887	CCDS7584.1	10	.	.	.	.	.	.	.	.	.	.	C	49	14.946660	0.99816	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.9555	16.9947	0.86363	0.0:1.0:0.0:0.0	.	.	.	.	X	963	.	ENSP00000355185:G963X	G	-	1	0	DCLRE1A	115586886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.039000	0.76544	2.506000	0.84524	0.586000	0.80456	GGA	DCLRE1A	-	pfam_DRMBL	ENSG00000198924		0.353	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	HGNC	protein_coding	OTTHUMT00000050444.1		0.00	48	0	C	NM_014881		115596896	-1			no_errors	ENST00000361384	ensembl	human	known	74_37	nonsense	5.13	74	4	SNP	1.000	A
DCN	1634	genome.wustl.edu	37	12	91558458	91558458	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:91558458G>T	ENST00000052754.5	-	3	749	c.248C>A	c.(247-249)aCa>aAa	p.T83K	DCN_ENST00000420120.2_Intron|DCN_ENST00000441303.2_Missense_Mutation_p.T83K|DCN_ENST00000303320.3_Missense_Mutation_p.T83K|DCN_ENST00000228329.5_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.T83K|DCN_ENST00000393155.1_Missense_Mutation_p.T83K|DCN_ENST00000425043.1_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000456569.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	83					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TAGCAGAGTTGTGTCAGGGGG	0.408																																																	0													127.0	116.0	120.0					12																	91558458		2203	4300	6503	SO:0001583	missense	0			AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.248C>A	12.37:g.91558458G>T	ENSP00000052754:p.Thr83Lys		Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.T83K	ENST00000052754.5	37	c.248	CCDS9039.1	12	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660077	0.67586	.	.	ENSG00000011465	ENST00000052754;ENST00000303320;ENST00000393155;ENST00000552962;ENST00000441303;ENST00000547937;ENST00000552145;ENST00000550563;ENST00000549513	T;D;T;T;D;T;T;T;D	0.84370	3.56;-1.84;3.56;3.56;-1.84;3.56;3.56;3.56;-1.84	6.08	6.08	0.98989	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94118	0.8114	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.988	D	0.93976	0.7254	10	0.72032	D	0.01	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	83;83	P07585;P07585-4	PGS2_HUMAN;.	K	83	ENSP00000052754:T83K;ENSP00000302031:T83K;ENSP00000376862:T83K;ENSP00000447654:T83K;ENSP00000399815:T83K;ENSP00000449782:T83K;ENSP00000447886:T83K;ENSP00000449014:T83K;ENSP00000449438:T83K	ENSP00000052754:T83K	T	-	2	0	DCN	90082589	1.000000	0.71417	0.969000	0.41365	0.025000	0.11179	9.476000	0.97823	2.894000	0.99253	0.591000	0.81541	ACA	DCN	-	smart_LRR-contain_N,pirsf_SLRP_I_decor/aspor/byglycan	ENSG00000011465		0.408	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCN	HGNC	protein_coding	OTTHUMT00000406799.3	-	0.00	73	0	G	NM_133507		91558458	-1	tier1	-	no_errors	ENST00000052754	ensembl	human	known	74_37	missense	6.25	75	5	SNP	1.000	T
DDO	8528	genome.wustl.edu	37	6	110729555	110729555	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:110729555C>T	ENST00000368924.3	-	3	362	c.347G>A	c.(346-348)gGt>gAt	p.G116D	DDO_ENST00000368923.3_Missense_Mutation_p.G116D	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	88					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CAAATGAACACCAGCATCTCC	0.378																																																	0													120.0	116.0	117.0					6																	110729555		2203	4300	6503	SO:0001583	missense	0			D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.347G>A	6.37:g.110729555C>T	ENSP00000357920:p.Gly116Asp		A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase	p.G116D	ENST00000368924.3	37	c.347	CCDS5082.1	6	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849094	0.91277	.	.	ENSG00000203797	ENST00000368924;ENST00000368923;ENST00000368925	T;D;T	0.95447	0.96;-3.71;0.96	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.98626	0.9540	H	0.97465	4.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.98350	1.0543	10	0.36615	T	0.2	-19.7131	19.4442	0.94840	0.0:1.0:0.0:0.0	.	116;116	Q99489-4;Q99489-3	.;.	D	116;116;88	ENSP00000357920:G116D;ENSP00000357919:G116D;ENSP00000357921:G88D	ENSP00000357919:G116D	G	-	2	0	DDO	110836248	1.000000	0.71417	0.957000	0.39632	0.990000	0.78478	5.285000	0.65633	2.692000	0.91855	0.591000	0.81541	GGT	DDO	-	pfam_FAD-dep_OxRdtase	ENSG00000203797		0.378	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDO	HGNC	protein_coding	OTTHUMT00000041796.1	-	0.00	47	0	C			110729555	-1	tier1	-	no_errors	ENST00000368924	ensembl	human	known	74_37	missense	41.18	50	35	SNP	1.000	T
DLGAP5	9787	genome.wustl.edu	37	14	55649122	55649122	+	Missense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr14:55649122C>A	ENST00000247191.2	-	4	677	c.461G>T	c.(460-462)aGg>aTg	p.R154M	DLGAP5_ENST00000395425.2_Missense_Mutation_p.R154M	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	154					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						GGCCTTTGACCTTGTAATCCG	0.308																																																	0													188.0	177.0	181.0					14																	55649122		2203	4299	6502	SO:0001583	missense	0			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.461G>T	14.37:g.55649122C>A	ENSP00000247191:p.Arg154Met		A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	pfam_GKAP	p.R154M	ENST00000247191.2	37	c.461	CCDS9723.1	14	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829523	0.71258	.	.	ENSG00000126787	ENST00000395425;ENST00000247191;ENST00000557645	T;T;T	0.18338	2.22;2.22;2.22	4.98	4.98	0.66077	.	0.683242	0.14670	N	0.305386	T	0.43366	0.1244	M	0.77103	2.36	0.53688	D	0.999976	D;D	0.89917	1.0;0.999	D;D	0.71870	0.975;0.936	T	0.32824	-0.9892	10	0.87932	D	0	.	14.1018	0.65062	0.0:1.0:0.0:0.0	.	154;154	A8MTM6;Q15398	.;DLGP5_HUMAN	M	154	ENSP00000378815:R154M;ENSP00000247191:R154M;ENSP00000451747:R154M	ENSP00000247191:R154M	R	-	2	0	DLGAP5	54718875	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.697000	0.47060	2.472000	0.83506	0.491000	0.48974	AGG	DLGAP5	-	NULL	ENSG00000126787		0.308	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP5	HGNC	protein_coding	OTTHUMT00000276908.2	-	0.00	85	0	C	NM_014750		55649122	-1	tier1	-	no_errors	ENST00000247191	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A
DICER1	23405	genome.wustl.edu	37	14	95590807	95590807	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr14:95590807G>T	ENST00000526495.1	-	10	1393	c.1102C>A	c.(1102-1104)Ctt>Att	p.L368I	DICER1_ENST00000541352.1_Missense_Mutation_p.L368I|DICER1_ENST00000393063.1_Missense_Mutation_p.L368I|DICER1_ENST00000343455.3_Missense_Mutation_p.L368I|DICER1_ENST00000527414.1_Missense_Mutation_p.L368I			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	368	Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.L368V(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTCAGGTCAAGTGAGGCAGGT	0.393			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""dicer 1, ribonuclease type III """		"""E, M, O"""	1	Substitution - Missense(1)	lung(1)											144.0	146.0	145.0					14																	95590807		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1102C>A	14.37:g.95590807G>T	ENSP00000437256:p.Leu368Ile		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom	p.L368I	ENST00000526495.1	37	c.1102	CCDS9931.1	14	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236604	0.58886	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.42562	0.1208	L	0.47716	1.5	0.58432	D	0.999999	B	0.31968	0.349	B	0.28638	0.092	T	0.25467	-1.0131	10	0.17832	T	0.49	-20.397	19.4888	0.95042	0.0:0.0:1.0:0.0	.	368	Q9UPY3	DICER_HUMAN	I	368	ENSP00000343745:L368I;ENSP00000437256:L368I;ENSP00000376783:L368I;ENSP00000435681:L368I;ENSP00000444719:L368I	ENSP00000343745:L368I	L	-	1	0	DICER1	94660560	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.359000	0.79477	2.607000	0.88179	0.585000	0.79938	CTT	DICER1	-	superfamily_P-loop_NTPase	ENSG00000100697		0.393	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	HGNC	protein_coding	OTTHUMT00000387997.1		0.00	23	0	G			95590807	-1			no_errors	ENST00000343455	ensembl	human	known	74_37	missense	11.76	15	2	SNP	1.000	T
DMTN	2039	genome.wustl.edu	37	8	21929884	21929886	+	In_Frame_Del	DEL	GAG	GAG	-	rs147423735		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr8:21929884_21929886delGAG	ENST00000523266.1	+	9	1114_1116	c.652_654delGAG	c.(652-654)gagdel	p.E222del	DMTN_ENST00000519907.1_In_Frame_Del_p.E222del|DMTN_ENST00000443491.2_In_Frame_Del_p.E197del|DMTN_ENST00000265800.5_In_Frame_Del_p.E222del|DMTN_ENST00000523782.2_In_Frame_Del_p.E197del|DMTN_ENST00000517600.1_In_Frame_Del_p.E182del|DMTN_ENST00000358242.3_In_Frame_Del_p.E222del|DMTN_ENST00000415253.1_In_Frame_Del_p.E222del|DMTN_ENST00000432128.1_In_Frame_Del_p.E222del|DMTN_ENST00000381470.3_In_Frame_Del_p.E222del	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	222	Poly-Glu.				actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										AGCAGAGGAAGAGGAGGAGGAGG	0.581																																																	0																																										SO:0001651	inframe_deletion	0			U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.652_654delGAG	8.37:g.21929893_21929895delGAG	ENSP00000427866:p.Glu222del		A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	In_Frame_Del	DEL	pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece	p.E221in_frame_del	ENST00000523266.1	37	c.652_654	CCDS6020.1	8																																																																																			DMTN	-	NULL	ENSG00000158856		0.581	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DMTN	HGNC	protein_coding	OTTHUMT00000375178.1		0.00	29	0	GAG	NM_001978		21929886	+1	tier1		no_errors	ENST00000265800	ensembl	human	known	74_37	in_frame_del	12.00	22	3	DEL	0.977:0.984:0.990	-
DNAAF3	352909	genome.wustl.edu	37	19	55673609	55673609	+	Silent	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:55673609C>T	ENST00000524407.2	-	5	405	c.372G>A	c.(370-372)ccG>ccA	p.P124P	DNAAF3_ENST00000527223.2_Silent_p.P192P|DNAAF3_ENST00000391720.4_Silent_p.P171P|DNAAF3_ENST00000455045.1_Silent_p.P70P|CTD-2587H24.5_ENST00000591665.1_RNA|CTD-2587H24.4_ENST00000587871.1_5'Flank|DNAAF3_ENST00000587789.2_5'Flank			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	124					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											CGGCCACTGGCGGGCGCAGCA	0.687																																																	0													4.0	8.0	7.0					19																	55673609		1733	3686	5419	SO:0001819	synonymous_variant	0			AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.372G>A	19.37:g.55673609C>T			A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Silent	SNP	NULL	p.P192	ENST00000524407.2	37	c.576	CCDS59422.1	19																																																																																			DNAAF3	-	NULL	ENSG00000167646		0.687	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DNAAF3	HGNC	protein_coding	OTTHUMT00000250388.5	-	0.00	23	0	C	NM_178837		55673609	-1	tier1	-	no_errors	ENST00000527223	ensembl	human	known	74_37	silent	36.36	14	8	SNP	0.046	T
CDCA7L	55536	genome.wustl.edu	37	7	21938963	21938963	+	IGR	SNP	C	C	T	rs72658828		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:21938963C>T	ENST00000406877.3	-	0	3066				DNAH11_ENST00000328843.6_Silent_p.D4360D|DNAH11_ENST00000409508.3_Silent_p.D4353D	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like						positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						GGTTCAATGACCTCCTCCTGC	0.507																																																	0													163.0	160.0	161.0					7																	21938963		1949	4157	6106	SO:0001628	intergenic_variant	0				CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429		7.37:g.21938963C>T			A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.D4360	ENST00000406877.3	37	c.13080	CCDS5374.1	7																																																																																			DNAH11	-	pfam_Dynein_heavy_dom	ENSG00000105877		0.507	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000250218.4	-	0.00	50	0	C	NM_018719		21938963	+1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	silent	11.63	38	5	SNP	1.000	T
DNAH2	146754	genome.wustl.edu	37	17	7643738	7643738	+	Splice_Site	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:7643738G>T	ENST00000572933.1	+	10	2837	c.1377G>T	c.(1375-1377)aaG>aaT	p.K459N	DNAH2_ENST00000389173.2_Splice_Site_p.K459N|DNAH2_ENST00000082259.3_Splice_Site_p.K541N|DNAH2_ENST00000570791.1_Splice_Site_p.K541N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	459	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K459N(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACCGGTGCAGGTTCCGTGCCG	0.622																																																	1	Substitution - Missense(1)	lung(1)											133.0	115.0	121.0					17																	7643738		2203	4300	6503	SO:0001630	splice_region_variant	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1377-1G>T	17.37:g.7643738G>T			A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K459N	ENST00000572933.1	37	c.1377	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	16.04	3.008882	0.54361	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.56103	0.48;0.48	4.18	-6.13	0.02118	Dynein heavy chain, domain-1 (1);	0.368082	0.25247	N	0.032056	T	0.34629	0.0904	L	0.52573	1.65	0.80722	D	1	B;P	0.43412	0.154;0.806	B;B	0.41271	0.248;0.352	T	0.31779	-0.9931	9	.	.	.	.	3.5521	0.07850	0.52:0.1062:0.2668:0.107	.	459;541	Q9P225;Q9P225-3	DYH2_HUMAN;.	N	459;459;541	ENSP00000373825:K459N;ENSP00000082259:K541N	.	K	+	3	2	DNAH2	7584463	0.956000	0.32656	0.620000	0.29132	0.716000	0.41182	-0.022000	0.12480	-1.107000	0.03004	-0.396000	0.06452	AAG	DNAH2	-	pfam_Dynein_heavy_dom-1	ENSG00000183914		0.622	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1		0.00	28	0	G	NM_020877	Missense_Mutation	7643738	+1			no_errors	ENST00000389173	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.949	T
DNAH17	8632	genome.wustl.edu	37	17	76570976	76570976	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:76570976G>A	ENST00000585328.1	-	2	288	c.164C>T	c.(163-165)aCg>aTg	p.T55M	DNAH17_ENST00000389840.5_Missense_Mutation_p.T55M	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	55	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGCATTGAGCGTCAGCACCAG	0.552																																																	0													91.0	95.0	94.0					17																	76570976		2051	4218	6269	SO:0001583	missense	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.164C>T	17.37:g.76570976G>A	ENSP00000465516:p.Thr55Met		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd	p.T55M	ENST00000585328.1	37	c.164		17	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592603	0.28357	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.24723	1.84	5.11	5.11	0.69529	.	.	.	.	.	T	0.30978	0.0782	L	0.39898	1.24	0.28393	N	0.918975	.	.	.	.	.	.	T	0.11108	-1.0601	7	0.34782	T	0.22	.	14.8678	0.70430	0.0:0.1444:0.8556:0.0	.	.	.	.	M	55	ENSP00000374490:T55M	ENSP00000300671:T55M	T	-	2	0	DNAH17	74082571	0.027000	0.19231	0.910000	0.35882	0.091000	0.18340	0.662000	0.25038	2.375000	0.81037	0.563000	0.77884	ACG	DNAH17	-	NULL	ENSG00000187775		0.552	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	-	0.00	62	0	G	NM_173628		76570976	-1	tier1	-	no_errors	ENST00000389840	ensembl	human	known	74_37	missense	22.41	45	13	SNP	0.918	A
DNAH5	1767	genome.wustl.edu	37	5	13810212	13810212	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:13810212G>A	ENST00000265104.4	-	45	7669	c.7565C>T	c.(7564-7566)gCg>gTg	p.A2522V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2522					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCGGGCCCCGCTGGCGGCGG	0.721									Kartagener syndrome																																								0													8.0	9.0	9.0					5																	13810212		2080	4118	6198	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.7565C>T	5.37:g.13810212G>A	ENSP00000265104:p.Ala2522Val		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A2522V	ENST00000265104.4	37	c.7565	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142160	0.37825	.	.	ENSG00000039139	ENST00000265104	T	0.24538	1.85	4.96	-9.5	0.00584	.	1.592250	0.03359	N	0.197267	T	0.11665	0.0284	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14008	-1.0488	10	0.30078	T	0.28	.	6.1398	0.20253	0.0582:0.2908:0.1874:0.4636	.	2522	Q8TE73	DYH5_HUMAN	V	2522	ENSP00000265104:A2522V	ENSP00000265104:A2522V	A	-	2	0	DNAH5	13863212	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.772000	0.26647	-1.705000	0.01406	-0.397000	0.06425	GCG	DNAH5	-	NULL	ENSG00000039139		0.721	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0.00	49	0	G	NM_001369		13810212	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.000	A
DNAH7	56171	genome.wustl.edu	37	2	196788373	196788374	+	Frame_Shift_Ins	INS	-	-	T	rs397987193|rs71015736|rs34468832		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:196788373_196788374insT	ENST00000312428.6	-	23	3870_3871	c.3770_3771insA	c.(3769-3771)aatfs	p.N1257fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1257	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATCGCTAATATTTTTTTTTAC	0.421																																																	0										0,3664		0,0,1832						-9.7	0.0		dbSNP_126	97	3,7917		0,3,3957	no	frameshift	DNAH7	NM_018897.2		0,3,5789	A1A1,A1R,RR		0.0379,0.0,0.0259				3,11581				SO:0001589	frameshift_variant	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3771dupA	2.37:g.196788382_196788382dupT	ENSP00000311273:p.Asn1257fs		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Ins	INS	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.N1257fs	ENST00000312428.6	37	c.3771_3770	CCDS42794.1	2																																																																																			DNAH7	-	NULL	ENSG00000118997		0.421	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3		0.00	28	0	-	NM_018897		196788374	-1	tier1		no_errors	ENST00000312428	ensembl	human	known	74_37	frame_shift_ins	11.11	16	2	INS	0.000:0.000	T
DNHD1	144132	genome.wustl.edu	37	11	6565416	6565416	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:6565416G>T	ENST00000527990.2	+	17	3694	c.3694G>T	c.(3694-3696)Gaa>Taa	p.E1232*	DNHD1_ENST00000254579.6_Nonsense_Mutation_p.E1232*			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1232					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTTGGCCATCGAAAAGTCAGG	0.488																																																	0													92.0	82.0	85.0					11																	6565416		692	1591	2283	SO:0001587	stop_gained	0			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.3694G>T	11.37:g.6565416G>T	ENSP00000436180:p.Glu1232*		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE	p.E1232*	ENST00000527990.2	37	c.3694	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	G	40	8.188540	0.98696	.	.	ENSG00000179532	ENST00000254579;ENST00000527990	.	.	.	5.23	3.36	0.38483	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6703	0.23064	0.0:0.7238:0.1831:0.0931	.	.	.	.	X	1232	.	ENSP00000254579:E1232X	E	+	1	0	DNHD1	6521992	0.996000	0.38824	1.000000	0.80357	0.634000	0.38068	0.800000	0.27042	1.537000	0.49254	-0.128000	0.14901	GAA	DNHD1	-	pfam_Dynein_heavy_dom-2	ENSG00000179532		0.488	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2		0.00	34	0	G	NM_144666		6565416	+1			no_errors	ENST00000254579	ensembl	human	known	74_37	nonsense	5.88	32	2	SNP	0.997	T
DNPEP	23549	genome.wustl.edu	37	2	220246836	220246836	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:220246836G>T	ENST00000273075.4	-	11	1182	c.962C>A	c.(961-963)gCa>gAa	p.A321E	DNPEP_ENST00000490371.1_5'Flank|DNPEP_ENST00000373972.1_Missense_Mutation_p.A246E|DNPEP_ENST00000523282.1_Missense_Mutation_p.A329E	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	311					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGTGACTGTGCTCCCTGTGC	0.607																																																	0													47.0	53.0	51.0					2																	220246836		2124	4239	6363	SO:0001583	missense	0				CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.962C>A	2.37:g.220246836G>T	ENSP00000273075:p.Ala321Glu		Q9BW44|Q9NUV5	Missense_Mutation	SNP	pfam_Peptidase_M18,pfam_Peptidase_M42,prints_Peptidase_M18	p.A321E	ENST00000273075.4	37	c.962	CCDS42823.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.446026	0.96187	.	.	ENSG00000123992	ENST00000273075;ENST00000337010;ENST00000373972;ENST00000523282;ENST00000535056;ENST00000457935	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.91784	0.7401	H	0.99425	4.56	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.95085	0.8217	9	0.87932	D	0	-11.2187	19.1173	0.93346	0.0:0.0:1.0:0.0	.	329;329;311;321	E7ETB3;B7Z7F0;Q9ULA0;Q53SB6	.;.;DNPEP_HUMAN;.	E	321;321;246;329;214;293	.	ENSP00000273075:A321E	A	-	2	0	DNPEP	219955080	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	9.541000	0.98083	2.746000	0.94184	0.655000	0.94253	GCA	DNPEP	-	pfam_Peptidase_M18,prints_Peptidase_M18	ENSG00000123992		0.607	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DNPEP	HGNC	protein_coding	OTTHUMT00000130212.1		0.00	23	0	G	NM_012100		220246836	-1			no_errors	ENST00000273075	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T
DOCK2	1794	genome.wustl.edu	37	5	169186770	169186770	+	Missense_Mutation	SNP	A	A	C			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:169186770A>C	ENST00000256935.8	+	24	2518	c.2438A>C	c.(2437-2439)aAg>aCg	p.K813T	DOCK2_ENST00000520908.1_Missense_Mutation_p.K305T|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	813					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.K813T(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTGATGCGAAGTTACTCAGG	0.478																																																	1	Substitution - Missense(1)	endometrium(1)											246.0	224.0	232.0					5																	169186770		2203	4300	6503	SO:0001583	missense	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2438A>C	5.37:g.169186770A>C	ENSP00000256935:p.Lys813Thr		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.K813T	ENST00000256935.8	37	c.2438	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	A	12.55	1.972033	0.34754	.	.	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908;ENST00000519628	T;T;T	0.68765	-0.35;-0.35;2.32	5.2	5.2	0.72013	.	0.045535	0.85682	D	0.000000	T	0.59128	0.2171	L	0.61218	1.895	0.80722	D	1	P;D	0.53619	0.89;0.961	B;B	0.42798	0.343;0.398	T	0.58160	-0.7685	10	0.20519	T	0.43	.	6.8414	0.23965	0.8305:0.0:0.1695:0.0	.	305;813	E7ERW7;Q92608	.;DOCK2_HUMAN	T	813;194;305;17	ENSP00000256935:K813T;ENSP00000429283:K305T;ENSP00000428841:K17T	ENSP00000256935:K813T	K	+	2	0	DOCK2	169119348	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.158000	0.58150	2.096000	0.63516	0.533000	0.62120	AAG	DOCK2	-	superfamily_ARM-type_fold	ENSG00000134516		0.478	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	-	0.00	53	0	A	NM_004946		169186770	+1	tier1	-	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	56.90	25	33	SNP	1.000	C
DTNB	1838	genome.wustl.edu	37	2	25799868	25799868	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:25799868G>T	ENST00000406818.3	-	8	964	c.715C>A	c.(715-717)Cat>Aat	p.H239N	DTNB_ENST00000407038.3_Missense_Mutation_p.H239N|DTNB_ENST00000496972.2_Missense_Mutation_p.H182N|DTNB_ENST00000405222.1_Missense_Mutation_p.H239N|DTNB_ENST00000404103.3_Missense_Mutation_p.H239N|DTNB_ENST00000545439.1_Missense_Mutation_p.H35N|DTNB_ENST00000407186.1_Missense_Mutation_p.H239N|DTNB_ENST00000407661.3_Missense_Mutation_p.H239N|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000288642.8_Missense_Mutation_p.H239N	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	239						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCACGGGATGGAAGACTTGT	0.468																																																	0													28.0	29.0	29.0					2																	25799868		2073	4242	6315	SO:0001583	missense	0			AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.715C>A	2.37:g.25799868G>T	ENSP00000384084:p.His239Asn		B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.H239N	ENST00000406818.3	37	c.715	CCDS46237.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.172332	0.94807	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000545439;ENST00000535791	D;D;D;D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34	5.83	5.83	0.93111	Zinc finger, ZZ-type (2);	0.000000	0.85682	D	0.000000	D	0.95806	0.8635	H	0.95611	3.695	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999;1.0;0.998	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;1.0;1.0;0.997;0.999;0.999;0.999;0.999	D	0.96579	0.9429	10	0.87932	D	0	-15.3962	18.6856	0.91562	0.0:0.0:1.0:0.0	.	239;35;182;239;239;182;239;239;239;239;239;239	E7EVB6;B7Z202;F5GZG4;O60941-3;B7Z6A9;B7Z733;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941	.;.;.;.;.;.;.;.;.;.;.;DTNB_HUMAN	N	182;239;239;239;239;239;239;239;35;92	ENSP00000444463:H182N;ENSP00000384084:H239N;ENSP00000385482:H239N;ENSP00000385193:H239N;ENSP00000384767:H239N;ENSP00000384787:H239N;ENSP00000385784:H239N;ENSP00000288642:H239N;ENSP00000444961:H35N	ENSP00000288642:H239N	H	-	1	0	DTNB	25653372	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.731000	0.98807	2.763000	0.94921	0.561000	0.74099	CAT	DTNB	-	smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	ENSG00000138101		0.468	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTNB	HGNC	protein_coding	OTTHUMT00000325361.1	-	0.00	51	0	G	NM_033147		25799868	-1	tier1	-	no_errors	ENST00000406818	ensembl	human	known	74_37	missense	7.94	58	5	SNP	1.000	T
DUOX1	53905	genome.wustl.edu	37	15	45444628	45444628	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:45444628G>T	ENST00000321429.4	+	26	3745	c.3338G>T	c.(3337-3339)cGa>cTa	p.R1113L	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.R1113L|DUOX1_ENST00000561166.1_Missense_Mutation_p.R759L	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1113	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ACCTTCCTGCGAGAAACCTTC	0.607																																																	0													218.0	167.0	184.0					15																	45444628		2198	4298	6496	SO:0001583	missense	0			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3338G>T	15.37:g.45444628G>T	ENSP00000317997:p.Arg1113Leu		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal	p.R1113L	ENST00000321429.4	37	c.3338	CCDS32221.1	15	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021351	0.93462	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.96300	-3.97;-3.97	4.21	4.21	0.49690	Flavoprotein transmembrane component (1);	0.110552	0.64402	D	0.000010	D	0.98757	0.9582	H	0.97240	3.965	0.80722	D	1	D;P	0.89917	1.0;0.463	D;B	0.91635	0.999;0.378	D	0.99136	1.0854	10	0.87932	D	0	-6.6651	14.4288	0.67236	0.0:0.0:1.0:0.0	.	246;1113	Q9NT13;Q9NRD9	.;DUOX1_HUMAN	L	1113	ENSP00000317997:R1113L;ENSP00000373689:R1113L	ENSP00000317997:R1113L	R	+	2	0	DUOX1	43231920	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.522000	0.98032	2.325000	0.78763	0.650000	0.86243	CGA	DUOX1	-	pfam_Fe3_Rdtase_TM_dom	ENSG00000137857		0.607	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	HGNC	protein_coding	OTTHUMT00000416251.1	-	0.00	60	0	G	NM_017434		45444628	+1	tier1	-	no_errors	ENST00000321429	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T
DUSP27	92235	genome.wustl.edu	37	1	167095398	167095400	+	In_Frame_Del	DEL	GAG	GAG	-	rs372437301		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:167095398_167095400delGAG	ENST00000361200.2	+	6	1196_1198	c.1030_1032delGAG	c.(1030-1032)gagdel	p.E348del	DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000443333.1_In_Frame_Del_p.E348del|DUSP27_ENST00000271385.5_In_Frame_Del_p.E348del			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	348					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCTCATAGACGAGGAGGAGGAGG	0.655																																																	0										121,4133		6,109,2012						-6.5	0.0			29	285,7951		13,259,3846	no	coding	DUSP27	NM_001080426.1		19,368,5858	A1A1,A1R,RR		3.4604,2.8444,3.2506				406,12084				SO:0001651	inframe_deletion	0			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1030_1032delGAG	1.37:g.167095407_167095409delGAG	ENSP00000354483:p.Glu348del		A0AUM4|Q9C074	In_Frame_Del	DEL	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.E347in_frame_del	ENST00000361200.2	37	c.1030_1032	CCDS30932.1	1																																																																																			DUSP27	-	NULL	ENSG00000198842		0.655	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	HGNC	protein_coding	OTTHUMT00000083244.1		0.00	39	0	GAG	NM_001080426		167095400	+1	tier1		no_errors	ENST00000271385	ensembl	human	known	74_37	in_frame_del	15.00	17	3	DEL	0.043:0.053:0.008	-
DUSP27	92235	genome.wustl.edu	37	1	167095830	167095830	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:167095830G>T	ENST00000361200.2	+	6	1628	c.1462G>T	c.(1462-1464)Gag>Tag	p.E488*	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Nonsense_Mutation_p.E488*|DUSP27_ENST00000271385.5_Nonsense_Mutation_p.E488*			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	488					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCTGGAGATTGAGAAGGAGGC	0.647																																																	0													36.0	35.0	36.0					1																	167095830		2203	4300	6503	SO:0001587	stop_gained	0			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1462G>T	1.37:g.167095830G>T	ENSP00000354483:p.Glu488*		A0AUM4|Q9C074	Nonsense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.E488*	ENST00000361200.2	37	c.1462	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.183167	0.98693	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	.	.	.	5.36	5.36	0.76844	.	0.160857	0.41712	D	0.000832	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.6078	19.1027	0.93281	0.0:0.0:1.0:0.0	.	.	.	.	X	488	.	ENSP00000271385:E488X	E	+	1	0	DUSP27	165362454	1.000000	0.71417	0.226000	0.23910	0.682000	0.39822	9.328000	0.96403	2.488000	0.83962	0.643000	0.83706	GAG	DUSP27	-	NULL	ENSG00000198842		0.647	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	HGNC	protein_coding	OTTHUMT00000083244.1	-	0.00	37	0	G	NM_001080426		167095830	+1	tier1	-	no_errors	ENST00000271385	ensembl	human	known	74_37	nonsense	8.33	44	4	SNP	1.000	T
DYNC1H1	1778	genome.wustl.edu	37	14	102505786	102505786	+	Missense_Mutation	SNP	T	T	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr14:102505786T>A	ENST00000360184.4	+	61	11662	c.11498T>A	c.(11497-11499)cTg>cAg	p.L3833Q	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3833					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGTTTTTCCTGGACATTTAT	0.532																																																	0													92.0	86.0	88.0					14																	102505786		2203	4300	6503	SO:0001583	missense	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.11498T>A	14.37:g.102505786T>A	ENSP00000348965:p.Leu3833Gln		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.L3833Q	ENST00000360184.4	37	c.11498	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	T	31	5.080944	0.94050	.	.	ENSG00000197102	ENST00000360184	T	0.66280	-0.2	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.81317	0.4797	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.83726	0.0195	10	0.56958	D	0.05	.	16.1728	0.81831	0.0:0.0:0.0:1.0	.	3833	Q14204	DYHC1_HUMAN	Q	3833	ENSP00000348965:L3833Q	ENSP00000348965:L3833Q	L	+	2	0	DYNC1H1	101575539	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.228000	0.72767	0.533000	0.62120	CTG	DYNC1H1	-	NULL	ENSG00000197102		0.532	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	-	0.00	44	0	T	NM_001376		102505786	+1	tier1	-	no_errors	ENST00000360184	ensembl	human	known	74_37	missense	22.22	14	4	SNP	1.000	A
EAF2	55840	genome.wustl.edu	37	3	121591470	121591470	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:121591470G>A	ENST00000273668.2	+	5	642	c.571G>A	c.(571-573)Gag>Aag	p.E191K	EAF2_ENST00000451944.2_Missense_Mutation_p.E191K	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	191	Necessary for transactivation activity.|Ser-rich.				apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		TTCAAGTAGTGAGGATAGTTC	0.398																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)												0													122.0	119.0	120.0					3																	121591470		2203	4300	6503	SO:0001583	missense	0			AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.571G>A	3.37:g.121591470G>A	ENSP00000273668:p.Glu191Lys		Q9NZ82	Missense_Mutation	SNP	pfam_Tscrpt_elong_fac_Eaf_N	p.E191K	ENST00000273668.2	37	c.571	CCDS3006.1	3	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969727	0.74246	.	.	ENSG00000145088	ENST00000273668;ENST00000451944	.	.	.	4.75	3.87	0.44632	.	0.346810	0.32901	N	0.005503	T	0.46580	0.1400	M	0.73598	2.24	0.35346	D	0.786959	P	0.43094	0.799	B	0.33339	0.162	T	0.60919	-0.7167	9	0.35671	T	0.21	-6.2496	10.9801	0.47488	0.0921:0.0:0.9079:0.0	.	191	Q96CJ1	EAF2_HUMAN	K	191	.	ENSP00000273668:E191K	E	+	1	0	EAF2	123074160	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.670000	0.68088	1.221000	0.43506	0.313000	0.20887	GAG	EAF2	-	NULL	ENSG00000145088		0.398	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EAF2	HGNC	protein_coding	OTTHUMT00000355247.1	-	0.00	53	0	G	NM_018456		121591470	+1	tier1	-	no_errors	ENST00000273668	ensembl	human	known	74_37	missense	45.31	35	29	SNP	1.000	A
EDNRB	1910	genome.wustl.edu	37	13	78474768	78474768	+	Missense_Mutation	SNP	C	C	T	rs201437745		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr13:78474768C>T	ENST00000334286.5	-	5	1209	c.973G>A	c.(973-975)Gtc>Atc	p.V325I	EDNRB_ENST00000446573.1_Missense_Mutation_p.V325I|EDNRB_ENST00000377211.4_Missense_Mutation_p.V415I	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	325					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)	p.V415I(1)|p.V325I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	AGGCAAAAGACGGTTTTGGCC	0.418																																																	2	Substitution - Missense(2)	lung(2)											90.0	97.0	95.0					13																	78474768		2203	4300	6503	SO:0001583	missense	0			L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.973G>A	13.37:g.78474768C>T	ENSP00000335311:p.Val325Ile		A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt	p.V325I	ENST00000334286.5	37	c.973	CCDS9461.1	13	.	.	.	.	.	.	.	.	.	.	C	33	5.196762	0.94960	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.36878	1.23;1.23;1.23	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61825	0.2378	M	0.73753	2.245	0.80722	D	1	D;P;D	0.76494	0.998;0.87;0.999	D;B;D	0.67900	0.923;0.292;0.954	T	0.64445	-0.6406	10	0.72032	D	0.01	-17.6334	19.5514	0.95322	0.0:1.0:0.0:0.0	.	325;415;325	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	I	415;325;325	ENSP00000366416:V415I;ENSP00000403401:V325I;ENSP00000335311:V325I	ENSP00000335311:V325I	V	-	1	0	EDNRB	77372769	1.000000	0.71417	0.558000	0.28319	0.981000	0.71138	7.445000	0.80570	2.705000	0.92388	0.650000	0.86243	GTC	EDNRB	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000136160		0.418	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EDNRB	HGNC	protein_coding	OTTHUMT00000276505.1		0.00	57	0	C			78474768	-1			no_errors	ENST00000334286	ensembl	human	known	74_37	missense	7.50	37	3	SNP	1.000	T
EHMT1	79813	genome.wustl.edu	37	9	140611554	140611554	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:140611554G>T	ENST00000460843.1	+	3	589	c.562G>T	c.(562-564)Gac>Tac	p.D188Y	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.D188Y|EHMT1_ENST00000334856.6_Missense_Mutation_p.D157Y	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	188					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TGACACAGAGGACAGGAAGCT	0.642																																																	0													28.0	32.0	31.0					9																	140611554		2189	4271	6460	SO:0001583	missense	0			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.562G>T	9.37:g.140611554G>T	ENSP00000417980:p.Asp188Tyr		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.D188Y	ENST00000460843.1	37	c.562	CCDS7050.2	9	.	.	.	.	.	.	.	.	.	.	g	13.74	2.327921	0.41197	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.70164	1.64;0.88;-0.46	5.82	2.84	0.33178	.	0.556518	0.18593	N	0.136668	T	0.53948	0.1828	L	0.44542	1.39	0.09310	N	1	P;P;P	0.50272	0.5;0.865;0.933	B;B;B	0.40375	0.126;0.327;0.298	T	0.51513	-0.8696	10	0.56958	D	0.05	.	7.6854	0.28538	0.2083:0.1339:0.6578:0.0	.	188;157;188	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	Y	157;157;188;188	ENSP00000334476:D157Y;ENSP00000417328:D188Y;ENSP00000417980:D188Y	ENSP00000334476:D157Y	D	+	1	0	EHMT1	139731375	0.994000	0.37717	0.168000	0.22838	0.799000	0.45148	2.363000	0.44178	1.480000	0.48289	0.639000	0.83563	GAC	EHMT1	-	NULL	ENSG00000181090		0.642	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2		0.00	63	0	G	NM_024757		140611554	+1			no_errors	ENST00000460843	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.017	T
EIF2A	83939	genome.wustl.edu	37	3	150301678	150301678	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:150301678G>T	ENST00000460851.1	+	14	1847	c.1738G>T	c.(1738-1740)Gat>Tat	p.D580Y	SERP1_ENST00000479209.1_Intron|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000482471.1_3'UTR|EIF2A_ENST00000406576.3_Missense_Mutation_p.D519Y|EIF2A_ENST00000383043.3_Missense_Mutation_p.D366Y|EIF2A_ENST00000487799.1_Missense_Mutation_p.D555Y|EIF2A_ENST00000273435.5_Missense_Mutation_p.D575Y			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	580					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGAGCTGGAAGATTTGGAATT	0.348																																																	0													57.0	57.0	57.0					3																	150301678		1811	4082	5893	SO:0001583	missense	0			AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.1738G>T	3.37:g.150301678G>T	ENSP00000417229:p.Asp580Tyr		A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Missense_Mutation	SNP	pfam_TIF_beta_prop-like,pirsf_TIF2A	p.D580Y	ENST00000460851.1	37	c.1738	CCDS46935.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.46|15.46	2.839936|2.839936	0.51057|0.51057	.|.	.|.	ENSG00000144895|ENSG00000144895	ENST00000487799;ENST00000460851;ENST00000406576;ENST00000273435;ENST00000383043|ENST00000465535	T;T;T;T;T|.	0.45276|.	1.48;1.48;1.48;1.49;0.9|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.056048|.	0.64402|.	D|.	0.000002|.	T|T	0.71434|0.71434	0.3339|0.3339	M|M	0.72894|0.72894	2.215|2.215	0.54753|0.54753	D|D	0.999985|0.999985	P;D;B|.	0.57257|.	0.57;0.979;0.002|.	B;B;B|.	0.43536|.	0.319;0.423;0.003|.	T|T	0.71324|0.71324	-0.4627|-0.4627	10|5	0.62326|.	D|.	0.03|.	-14.7998|-14.7998	11.5499|11.5499	0.50715|0.50715	0.083:0.0:0.917:0.0|0.083:0.0:0.917:0.0	.|.	519;555;580|.	B4DF96;B4DQ14;Q9BY44|.	.;.;EIF2A_HUMAN|.	Y|N	555;580;519;575;366|310	ENSP00000420537:D555Y;ENSP00000417229:D580Y;ENSP00000385292:D519Y;ENSP00000273435:D575Y;ENSP00000372513:D366Y|.	ENSP00000273435:D575Y|.	D|K	+|+	1|3	0|2	EIF2A|EIF2A	151784368|151784368	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.045000|3.045000	0.49838|0.49838	2.559000|2.559000	0.86315|0.86315	0.591000|0.591000	0.81541|0.81541	GAT|AAG	EIF2A	-	pirsf_TIF2A	ENSG00000144895		0.348	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EIF2A	HGNC	protein_coding	OTTHUMT00000357259.2	-	0.00	56	0	G	NM_032025		150301678	+1	tier1	-	no_errors	ENST00000460851	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T
ELN	2006	genome.wustl.edu	37	7	73477992	73477992	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:73477992G>T	ENST00000252034.7	+	29	2359	c.1960G>T	c.(1960-1962)Ggg>Tgg	p.G654W	ELN_ENST00000357036.5_Missense_Mutation_p.G659W|ELN_ENST00000320492.7_Missense_Mutation_p.G573W|ELN_ENST00000358929.4_Missense_Mutation_p.G722W|ELN_ENST00000458204.1_Missense_Mutation_p.G644W|ELN_ENST00000380553.4_Missense_Mutation_p.G518W|ELN_ENST00000380584.4_Missense_Mutation_p.G606W|ELN_ENST00000380575.4_Missense_Mutation_p.G625W|ELN_ENST00000380562.4_Missense_Mutation_p.G660W|ELN_ENST00000380576.5_Missense_Mutation_p.G635W|ELN_ENST00000429192.1_Missense_Mutation_p.G640W|ELN_ENST00000320399.6_Missense_Mutation_p.G687W|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Missense_Mutation_p.G630W|ELN_ENST00000445912.1_Missense_Mutation_p.G654W	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CGGAGTCGGAGGGCTTGGAGT	0.582			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																																	Dom	yes		7	7q11.23	2006	elastin	yes	L	0													177.0	141.0	153.0					7																	73477992		2203	4300	6503	SO:0001583	missense	0				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1960G>T	7.37:g.73477992G>T	ENSP00000252034:p.Gly654Trp		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	prints_Tropoelastin	p.G722W	ENST00000252034.7	37	c.2164	CCDS5562.2	7	.	.	.	.	.	.	.	.	.	.	G	10.64	1.408316	0.25378	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63255	0.02;0.07;0.47;0.27;0.11;0.09;0.13;0.09;0.15;0.14;0.17;-0.03;0.11;0.15	2.83	2.83	0.33086	.	.	.	.	.	T	0.74261	0.3693	.	.	.	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.79108	0.992;0.992;0.992;0.992;0.992;0.992;0.992;0.992;0.992;0.992;0.992;0.992;0.992	T	0.60372	-0.7276	8	0.66056	D	0.02	.	9.4186	0.38536	0.0:0.0:1.0:0.0	.	654;573;630;644;660;625;640;659;635;518;565;606;654	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	W	654;654;722;573;630;660;625;606;644;659;640;593;518;635;687	ENSP00000389857:G654W;ENSP00000252034:G654W;ENSP00000351807:G722W;ENSP00000315607:G573W;ENSP00000392575:G630W;ENSP00000369936:G660W;ENSP00000369949:G625W;ENSP00000369958:G606W;ENSP00000403162:G644W;ENSP00000349540:G659W;ENSP00000391129:G640W;ENSP00000369926:G518W;ENSP00000369950:G635W;ENSP00000313565:G687W	ENSP00000252034:G654W	G	+	1	0	ELN	73115928	0.637000	0.27216	0.046000	0.18839	0.010000	0.07245	3.558000	0.53749	1.916000	0.55485	0.460000	0.39030	GGG	ELN	-	NULL	ENSG00000049540		0.582	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	HGNC	protein_coding	OTTHUMT00000316913.1	-	0.00	72	0	G	NM_000501		73477992	+1	tier1	-	no_errors	ENST00000358929	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.051	T
EMC10	284361	genome.wustl.edu	37	19	50985172	50985172	+	Intron	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:50985172C>T	ENST00000334976.6	+	7	724				EMC10_ENST00000376918.3_Missense_Mutation_p.P245S|EMC10_ENST00000598585.1_Intron|CTD-2545M3.2_ENST00000598194.1_RNA	NM_206538.2	NP_996261.1	Q5UCC4	EMC10_HUMAN	ER membrane protein complex subunit 10							ER membrane protein complex (GO:0072546)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)											TCCTGCTGCGCCAGGGCCCGC	0.726																																																	0													8.0	11.0	10.0					19																	50985172		2116	4191	6307	SO:0001627	intron_variant	0			BC062607	CCDS12796.1, CCDS42594.1	19q13.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000161671	ENSG00000161671			27609	protein-coding gene	gene with protein product	"""hematopoietic signal peptide-containing secreted 1"", ""hematopoietic signal peptide-containing membrane domain-containing 1"""	614545	"""chromosome 19 open reading frame 63"""	C19orf63		12975309, 22119785	Standard	NM_175063		Approved	INM02, HSS1, HSM1	uc002psl.3	Q5UCC4		ENST00000334976.6:c.679-234C>T	19.37:g.50985172C>T			Q5UCC6|Q69YT5|Q6UWP3|Q86YL4|Q8N541	Missense_Mutation	SNP	NULL	p.P245S	ENST00000334976.6	37	c.733	CCDS12796.1	19	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577933	0.45902	.	.	ENSG00000161671	ENST00000376918	.	.	.	3.19	3.19	0.36642	.	.	.	.	.	T	0.28167	0.0695	.	.	.	0.33987	D	0.648726	B	0.32573	0.376	B	0.28784	0.094	T	0.33317	-0.9873	7	0.19590	T	0.45	.	8.5171	0.33253	0.0:0.7603:0.2397:0.0	.	245	Q5UCC4-2	.	S	245	.	ENSP00000366117:P245S	P	+	1	0	C19orf63	55676984	0.996000	0.38824	1.000000	0.80357	0.739000	0.42172	3.934000	0.56553	1.810000	0.52873	0.484000	0.47621	CCA	EMC10	-	NULL	ENSG00000161671		0.726	EMC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC10	HGNC	protein_coding	OTTHUMT00000464760.2	-	0.00	24	0	C	NM_175063		50985172	+1	tier1	-	no_errors	ENST00000376918	ensembl	human	known	74_37	missense	18.42	31	7	SNP	0.985	T
EMX2	2018	genome.wustl.edu	37	10	119305283	119305283	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:119305283G>T	ENST00000553456.3	+	2	1371	c.547G>T	c.(547-549)Gaa>Taa	p.E183*	EMX2_ENST00000442245.4_Intron|EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000546446.1_3'UTR	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	183					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E183K(1)		endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		GGTGGGCGCCGAAAGGAAGCA	0.642																																																	1	Substitution - Missense(1)	large_intestine(1)											46.0	44.0	45.0					10																	119305283		2203	4300	6503	SO:0001587	stop_gained	0			AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.547G>T	10.37:g.119305283G>T	ENSP00000450962:p.Glu183*		G3V305|Q96NN8|Q9BQF4	Nonsense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif	p.E183*	ENST00000553456.3	37	c.547	CCDS7601.1	10	.	.	.	.	.	.	.	.	.	.	G	46	12.716759	0.99690	.	.	ENSG00000170370	ENST00000369201	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-12.3677	20.2806	0.98513	0.0:0.0:1.0:0.0	.	.	.	.	X	183	.	ENSP00000358202:E183X	E	+	1	0	EMX2	119295273	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.795000	0.96236	0.643000	0.83706	GAA	EMX2	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif	ENSG00000170370		0.642	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMX2	HGNC	protein_coding	OTTHUMT00000050569.4		0.00	44	0	G	NM_004098		119305283	+1			no_errors	ENST00000553456	ensembl	human	known	74_37	nonsense	5.66	50	3	SNP	1.000	T
Y_RNA	0	genome.wustl.edu	37	11	24477537	24477537	+	RNA	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:24477537C>A	ENST00000384522.1	+	0	81																											actctcactgcttcatctgac	0.353																																																	0																																												0																															11.37:g.24477537C>A				RNA	SNP	-	NULL	ENST00000384522.1	37	NULL		11																																																																																			Y_RNA	-	-	ENSG00000207252		0.353	Y_RNA.559-201	NOVEL	basic	misc_RNA	ENSG00000207252	RFAM	misc_RNA		-	0.00	21	0	C			24477537	+1	tier1	-	no_errors	ENST00000384522	ensembl	human	novel	74_37	rna	25.00	12	4	SNP	0.051	A
SNORA11	677799	genome.wustl.edu	37	14	70270922	70270922	+	RNA	DEL	T	T	-	rs566317626		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr14:70270922delT	ENST00000408133.1	-	0	126									small nucleolar RNA, H/ACA box 11																		ATGGATTCTCTTTTTTTTTTT	0.353																																																	0																																												0			AM055729		Xp11.21	2013-09-05			ENSG00000221716	ENSG00000221716		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	32599	non-coding RNA	RNA, small nucleolar	"""small nucleolar RNA, H/ACA box 11A"""	300662				16361266, 16381836	Standard	NR_002953		Approved	U107, SNORA11A	uc021ptl.1				14.37:g.70270922delT				RNA	DEL	-	NULL	ENST00000408133.1	37	NULL		14																																																																																			SNORA11	-	-	ENSG00000221060		0.353	SNORA11.1-201	NOVEL	basic	snoRNA	ENSG00000221060	RFAM	snoRNA			0.00	29	0	T	NR_002953		70270922	-1	tier1		no_errors	ENST00000408133	ensembl	human	novel	74_37	rna	13.64	19	3	DEL	0.003	-
GUSBP6	653435	genome.wustl.edu	37	7	63602112	63602112	+	RNA	SNP	T	T	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:63602112T>A	ENST00000434932.1	+	0	115				RP11-321E8.4_ENST00000442436.1_lincRNA					glucuronidase, beta pseudogene 6																		GTGTCTGGGCTTCCGCAGCTG	0.418																																																	0																																												0					7q11.21	2011-06-09			ENSG00000224458	ENSG00000224458			42320	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000156481		7.37:g.63602112T>A				RNA	SNP	-	NULL	ENST00000434932.1	37	NULL		7																																																																																			RP11-321E8.4	-	-	ENSG00000229881		0.418	GUSBP6-002	KNOWN	basic|exp_conf	processed_transcript	ENSG00000229881	Clone_based_vega_gene	pseudogene	OTTHUMT00000344314.1	-	0.00	26	0	T			63602112	+1	tier1	-	no_errors	ENST00000442436	ensembl	human	known	74_37	rna	17.65	14	3	SNP	1.000	A
RP11-423O2.5	0	genome.wustl.edu	37	1	142803240	142803240	+	lincRNA	SNP	G	G	A	rs76010818	byFrequency	TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:142803240G>A	ENST00000423385.1	-	0	1725																											GTAACAAAGCGTCAGTCTTAT	0.348																																																	0																																												0																															1.37:g.142803240G>A				RNA	SNP	-	NULL	ENST00000423385.1	37	NULL		1																																																																																			RP11-423O2.5	-	-	ENSG00000234978		0.348	RP11-423O2.5-001	KNOWN	basic	lincRNA	ENSG00000234978	Clone_based_vega_gene	lincRNA	OTTHUMT00000193203.1	-	0.00	78	0	G			142803240	-1	tier1	rs76010818	no_errors	ENST00000423385	ensembl	human	known	74_37	rna	13.04	40	6	SNP	0.014	A
CERS2	29956	genome.wustl.edu	37	1	150938220	150938220	+	3'UTR	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:150938220G>T	ENST00000271688.6	-	0	1933				RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000561294.1_Intron|CERS2_ENST00000368954.5_3'UTR|RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000345896.4_5'UTR	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2						ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GCAGAATGAGGCCCACAGATG	0.483																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"""Homeoboxes / CERS class"""	14076	protein-coding gene	gene with protein product		606920	"""longevity assurance (LAG1, S. cerevisiae) homolog 2"", ""LAG1 longevity assurance homolog 2 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 2"""	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.*404C>A	1.37:g.150938220G>T			D3DV06|Q5SZE5|Q9HD96|Q9NW79	Splice_Site	SNP	-	NULL	ENST00000271688.6	37	c.NULL	CCDS973.1	1																																																																																			RP11-316M1.12	-	-	ENSG00000259357		0.483	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000259357	Clone_based_vega_gene	protein_coding	OTTHUMT00000084897.2	-	0.00	62	0	G	NM_022075		150938220	+1	tier1	-	no_errors	ENST00000560481	ensembl	human	known	74_37	splice_site	5.80	65	4	SNP	1.000	T
LOC105372257	105372257	genome.wustl.edu	37	19	6954591	6954591	+	RNA	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:6954591G>T	ENST00000593558.1	+	0	191				EMR4P_ENST00000600751.1_RNA																							TTCCAATAAAGCACTCAGAAG	0.438																																																	0																																												0																															19.37:g.6954591G>T				RNA	SNP	-	NULL	ENST00000593558.1	37	NULL		19																																																																																			RP11-1137G4.3	-	-	ENSG00000268845		0.438	RP11-1137G4.3-001	KNOWN	basic	antisense	ENSG00000268845	Clone_based_vega_gene	antisense	OTTHUMT00000458493.1	-	0.00	68	0	G			6954591	+1	tier1	-	no_errors	ENST00000593558	ensembl	human	known	74_37	rna	5.88	64	4	SNP	0.000	T
LINC01105	150622	genome.wustl.edu	37	2	6112394	6112394	+	Missense_Mutation	SNP	A	A	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:6112394A>G	ENST00000391666.2	+	1	683	c.338A>G	c.(337-339)cAg>cGg	p.Q113R	AC073479.1_ENST00000431188.1_RNA																							CCGAGGACTCAGTTCTTTGTG	0.498																																																	0																																										SO:0001583	missense	0																														ENST00000391666.2:c.338A>G	2.37:g.6112394A>G	ENSP00000475464:p.Gln113Arg			Missense_Mutation	SNP	NULL	p.Q113R	ENST00000391666.2	37	c.338		2																																																																																			FLJ30594	-	NULL	ENSG00000272268		0.498	FLJ30594-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000272268	Uniprot_gn	protein_coding		-	0.00	31	0	A			6112394	+1	tier1	-	no_errors	ENST00000391666	ensembl	human	known	74_37	missense	25.00	27	9	SNP	0.000	G
ELFN2	114794	genome.wustl.edu	37	22	37768294	37768294	+	3'UTR	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr22:37768294C>A	ENST00000402918.2	-	0	4066				RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2						negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CCTCTCCCTTCTCCCGGGTGC	0.597																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.*818G>T	22.37:g.37768294C>A			Q96PY3	RNA	SNP	-	NULL	ENST00000402918.2	37	NULL	CCDS33642.1	22																																																																																			RP1-63G5.8	-	-	ENSG00000272694		0.597	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000272694	Clone_based_vega_gene	protein_coding	OTTHUMT00000318900.2	-	0.00	83	0	C	NM_052906		37768294	+1	tier1	-	no_errors	ENST00000609322	ensembl	human	known	74_37	rna	22.86	27	8	SNP	0.009	A
EP400	57634	genome.wustl.edu	37	12	132512792	132512792	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:132512792G>T	ENST00000333577.4	+	28	5557	c.5448G>T	c.(5446-5448)acG>acT	p.T1816T	SNORA49_ENST00000386157.1_RNA|EP400_ENST00000332482.4_Silent_p.T1743T|EP400_ENST00000389561.2_Silent_p.T1780T|EP400_ENST00000389562.2_Silent_p.T1779T|EP400_ENST00000330386.6_Silent_p.T1699T			Q96L91	EP400_HUMAN	E1A binding protein p400	1816					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGATGTTGACGCTTTGTCGGT	0.572																																																	0													187.0	163.0	171.0					12																	132512792		2203	4300	6503	SO:0001819	synonymous_variant	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5448G>T	12.37:g.132512792G>T			O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T1816	ENST00000333577.4	37	c.5448		12																																																																																			EP400	-	NULL	ENSG00000183495		0.572	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		-	0.00	39	0	G	NM_015409		132512792	+1	tier1	-	no_errors	ENST00000333577	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.000	T
EP400	57634	genome.wustl.edu	37	12	132514632	132514632	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:132514632G>T	ENST00000333577.4	+	30	5900	c.5791G>T	c.(5791-5793)Gag>Tag	p.E1931*	SNORA49_ENST00000386157.1_RNA|EP400_ENST00000332482.4_Nonsense_Mutation_p.E1858*|EP400_ENST00000389561.2_Nonsense_Mutation_p.E1895*|EP400_ENST00000389562.2_Nonsense_Mutation_p.E1894*|EP400_ENST00000330386.6_Nonsense_Mutation_p.E1814*			Q96L91	EP400_HUMAN	E1A binding protein p400	1931	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGACATTTTAGAGATGTTCTT	0.403																																																	0													208.0	191.0	197.0					12																	132514632		2203	4300	6503	SO:0001587	stop_gained	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5791G>T	12.37:g.132514632G>T	ENSP00000333602:p.Glu1931*		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1931*	ENST00000333577.4	37	c.5791		12	.	.	.	.	.	.	.	.	.	.	G	47	13.771938	0.99762	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	.	.	.	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.4753	0.99175	0.0:0.0:1.0:0.0	.	.	.	.	X	1931;1895;1894;1858;1814;1895	.	ENSP00000330620:E1814X	E	+	1	0	EP400	131080585	1.000000	0.71417	0.204000	0.23530	0.917000	0.54804	9.869000	0.99810	2.844000	0.97970	0.650000	0.86243	GAG	EP400	-	superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000183495		0.403	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding			0.00	25	0	G	NM_015409		132514632	+1			no_errors	ENST00000333577	ensembl	human	known	74_37	nonsense	8.89	41	4	SNP	1.000	T
EPAS1	2034	genome.wustl.edu	37	2	46574120	46574120	+	Missense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:46574120C>A	ENST00000263734.3	+	2	645	c.135C>A	c.(133-135)caC>caA	p.H45Q	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	45	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTCTGCCCCACAGTGTGAGCT	0.622																																																	0													122.0	112.0	116.0					2																	46574120		2203	4300	6503	SO:0001583	missense	0			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.135C>A	2.37:g.46574120C>A	ENSP00000263734:p.His45Gln		Q86VA2|Q99630	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.H45Q	ENST00000263734.3	37	c.135	CCDS1825.1	2	.	.	.	.	.	.	.	.	.	.	C	14.56	2.573121	0.45902	.	.	ENSG00000116016	ENST00000449347;ENST00000263734	T;T	0.21191	2.02;2.02	4.86	3.02	0.34903	Helix-loop-helix DNA-binding (3);	0.214639	0.48767	N	0.000169	T	0.12987	0.0315	L	0.27975	0.815	0.50813	D	0.999893	B	0.19706	0.038	B	0.20577	0.03	T	0.08868	-1.0701	10	0.59425	D	0.04	.	4.7936	0.13261	0.2698:0.5265:0.1308:0.0729	.	45	Q99814	EPAS1_HUMAN	Q	45	ENSP00000406137:H45Q;ENSP00000263734:H45Q	ENSP00000263734:H45Q	H	+	3	2	EPAS1	46427624	1.000000	0.71417	0.976000	0.42696	0.987000	0.75469	1.851000	0.39338	0.615000	0.30124	0.561000	0.74099	CAC	EPAS1	-	superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000116016		0.622	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	HGNC	protein_coding	OTTHUMT00000250752.2	-	0.00	51	0	C	NM_001430		46574120	+1	tier1	-	no_errors	ENST00000263734	ensembl	human	known	74_37	missense	23.53	39	12	SNP	1.000	A
EPB41L4B	54566	genome.wustl.edu	37	9	111962585	111962585	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:111962585G>A	ENST00000374566.3	-	20	2493	c.1976C>T	c.(1975-1977)gCc>gTc	p.A659V		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	659					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGCTGGCTGGGCAGTTTCCAC	0.423																																																	0													88.0	85.0	86.0					9																	111962585		1889	4122	6011	SO:0001583	missense	0			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1976C>T	9.37:g.111962585G>A	ENSP00000363694:p.Ala659Val		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	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.A659V	ENST00000374566.3	37	c.1976	CCDS43859.1	9	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081408	0.55753	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.84070	-1.8	5.61	5.61	0.85477	.	0.489496	0.15357	N	0.266623	T	0.72637	0.3485	N	0.14661	0.345	0.80722	D	1	B	0.24483	0.104	B	0.22386	0.039	T	0.68511	-0.5389	10	0.48119	T	0.1	.	15.1379	0.72583	0.0:0.0:1.0:0.0	.	659	Q9H329	E41LB_HUMAN	V	344;659	ENSP00000363694:A659V	ENSP00000262536:A344V	A	-	2	0	EPB41L4B	111002406	0.999000	0.42202	0.959000	0.39883	0.700000	0.40528	3.761000	0.55242	2.631000	0.89168	0.655000	0.94253	GCC	EPB41L4B	-	NULL	ENSG00000095203		0.423	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L4B	HGNC	protein_coding	OTTHUMT00000053592.1	-	0.00	66	0	G	NM_018424		111962585	-1	tier1	-	no_errors	ENST00000374566	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.742	A
EPC1	80314	genome.wustl.edu	37	10	32573915	32573915	+	Missense_Mutation	SNP	C	C	A	rs375175947		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:32573915C>A	ENST00000263062.8	-	10	1724	c.1455G>T	c.(1453-1455)atG>atT	p.M485I	EPC1_ENST00000319778.6_Missense_Mutation_p.M485I|EPC1_ENST00000375110.2_Missense_Mutation_p.M435I|RP11-166N17.3_ENST00000419441.1_RNA	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	485					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GTGAGGAAAGCATTTCCAAAT	0.378																																																	0													118.0	113.0	115.0					10																	32573915		2203	4300	6503	SO:0001583	missense	0			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.1455G>T	10.37:g.32573915C>A	ENSP00000263062:p.Met485Ile		B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N	p.M485I	ENST00000263062.8	37	c.1455	CCDS7172.1	10	.	.	.	.	.	.	.	.	.	.	C	10.82	1.458689	0.26248	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.16597	2.33;2.33;2.33	5.98	4.14	0.48551	.	0.375516	0.37623	N	0.002015	T	0.08044	0.0201	N	0.04297	-0.235	0.36069	D	0.841972	B;B;B	0.23058	0.004;0.079;0.004	B;B;B	0.16289	0.002;0.015;0.014	T	0.23084	-1.0198	10	0.22706	T	0.39	-1.0251	12.7814	0.57479	0.0:0.8675:0.0:0.1325	.	435;485;485	Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;EPC1_HUMAN	I	435;485;485	ENSP00000364251:M435I;ENSP00000318559:M485I;ENSP00000263062:M485I	ENSP00000263062:M485I	M	-	3	0	EPC1	32613921	0.998000	0.40836	1.000000	0.80357	0.967000	0.64934	0.973000	0.29422	0.871000	0.35750	-0.150000	0.13652	ATG	EPC1	-	NULL	ENSG00000120616		0.378	EPC1-004	KNOWN	basic|CCDS	protein_coding	EPC1	HGNC	protein_coding	OTTHUMT00000047484.1	-	0.00	44	0	C			32573915	-1	tier1	-	no_errors	ENST00000263062	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A
EPHA5	2044	genome.wustl.edu	37	4	66467471	66467471	+	Silent	SNP	A	A	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr4:66467471A>G	ENST00000273854.3	-	3	1398	c.798T>C	c.(796-798)tcT>tcC	p.S266S	EPHA5_ENST00000432638.2_Silent_p.S266S|EPHA5_ENST00000511294.1_Silent_p.S266S|EPHA5_ENST00000354839.4_Silent_p.S266S	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	266	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CATCGGTCACAGAATGGTTGA	0.532										TSP Lung(17;0.13)																																							0													80.0	75.0	77.0					4																	66467471		2203	4300	6503	SO:0001819	synonymous_variant	0			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.798T>C	4.37:g.66467471A>G			Q7Z3F2	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S266	ENST00000273854.3	37	c.798	CCDS3513.1	4																																																																																			EPHA5	-	pirsf_Tyr_kinase_ephrin_rcpt	ENSG00000145242		0.532	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	-	0.00	30	0	A	NM_004439		66467471	-1	tier1	-	no_errors	ENST00000273854	ensembl	human	known	74_37	silent	60.61	13	20	SNP	0.035	G
ERBB2IP	55914	genome.wustl.edu	37	5	65349238	65349238	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:65349238G>T	ENST00000284037.5	+	21	2481	c.2092G>T	c.(2092-2094)Gaa>Taa	p.E698*	ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380936.1_Nonsense_Mutation_p.E698*|ERBB2IP_ENST00000511297.1_Nonsense_Mutation_p.E694*|ERBB2IP_ENST00000506030.1_Nonsense_Mutation_p.E698*|ERBB2IP_ENST00000380938.2_Nonsense_Mutation_p.E698*|ERBB2IP_ENST00000508515.1_Nonsense_Mutation_p.E698*|ERBB2IP_ENST00000380943.2_Nonsense_Mutation_p.E698*|ERBB2IP_ENST00000380935.1_Nonsense_Mutation_p.E698*|ERBB2IP_ENST00000380939.2_Nonsense_Mutation_p.E698*	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	698					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TTTTAGGCAAGAAGATGAAAA	0.264																																																	0													37.0	45.0	43.0					5																	65349238		2160	4264	6424	SO:0001587	stop_gained	0				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.2092G>T	5.37:g.65349238G>T	ENSP00000284037:p.Glu698*		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.E698*	ENST00000284037.5	37	c.2092	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	G	38	7.194467	0.98129	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	18.7416	0.91775	0.0:0.0:1.0:0.0	.	.	.	.	X	698;698;698;698;698;698;694;698;698	.	ENSP00000284037:E698X	E	+	1	0	ERBB2IP	65384994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.720000	0.74723	2.491000	0.84063	0.591000	0.81541	GAA	ERBB2IP	-	NULL	ENSG00000112851		0.264	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1		0.00	79	0	G	NM_018695		65349238	+1			no_errors	ENST00000284037	ensembl	human	known	74_37	nonsense	6.56	57	4	SNP	1.000	T
ERBB4	2066	genome.wustl.edu	37	2	212293154	212293154	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:212293154G>T	ENST00000342788.4	-	22	3008	c.2698C>A	c.(2698-2700)Cag>Aag	p.Q900K	ERBB4_ENST00000436443.1_Missense_Mutation_p.Q900K|ERBB4_ENST00000402597.1_Missense_Mutation_p.Q890K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	900	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ACGTCACTCTGATGGGTGAAT	0.299										TSP Lung(8;0.080)																																							0													88.0	91.0	90.0					2																	212293154		2203	4293	6496	SO:0001583	missense	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2698C>A	2.37:g.212293154G>T	ENSP00000342235:p.Gln900Lys		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q900K	ENST00000342788.4	37	c.2698	CCDS2394.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.323768	0.95708	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.57752	0.38;0.38;0.38	5.59	5.59	0.84812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.051175	0.85682	D	0.000000	T	0.43897	0.1268	N	0.00462	-1.47	0.80722	D	1	P;D;D;D	0.76494	0.77;0.999;0.999;0.999	P;D;D;D	0.80764	0.728;0.983;0.989;0.994	T	0.74612	-0.3607	10	0.87932	D	0	.	19.5886	0.95498	0.0:0.0:1.0:0.0	.	890;890;900;900	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	K	900;900;890	ENSP00000342235:Q900K;ENSP00000403204:Q900K;ENSP00000385565:Q890K	ENSP00000342235:Q900K	Q	-	1	0	ERBB4	212001399	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.645000	0.98471	2.629000	0.89072	0.650000	0.86243	CAG	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000178568		0.299	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	-	0.00	61	0	G	NM_001042599		212293154	-1	tier1	-	no_errors	ENST00000342788	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T
EXOSC2	23404	genome.wustl.edu	37	9	133579120	133579120	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:133579120G>T	ENST00000372358.5	+	9	912	c.841G>T	c.(841-843)Gtg>Ttg	p.V281L	EXOSC2_ENST00000546165.1_Missense_Mutation_p.V255L|EXOSC2_ENST00000372352.3_Missense_Mutation_p.V273L|EXOSC2_ENST00000372351.3_Missense_Mutation_p.V251L|EXOSC2_ENST00000467138.1_3'UTR			Q13868	EXOS2_HUMAN	exosome component 2	281					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|7S RNA binding (GO:0008312)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		GGAGGAGATTGTGATGGAAAC	0.463																																					Pancreas(134;1683 1824 10118 27928 31640)												0													141.0	152.0	148.0					9																	133579120		2203	4300	6503	SO:0001583	missense	0			AK001916	CCDS6935.1, CCDS65160.1, CCDS65161.1	9q34	2008-02-05			ENSG00000130713	ENSG00000130713			17097	protein-coding gene	gene with protein product	"""homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4)"""	602238				8600032, 1538749	Standard	XM_005272176		Approved	hRrp4p, Rrp4p, RRP4, p7	uc004bzu.2	Q13868	OTTHUMG00000020811	ENST00000372358.5:c.841G>T	9.37:g.133579120G>T	ENSP00000361433:p.Val281Leu		A3KFL3|B4DKK6|Q9NUY4	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold	p.V281L	ENST00000372358.5	37	c.841	CCDS6935.1	9	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900966	0.33535	.	.	ENSG00000130713	ENST00000372358;ENST00000546165;ENST00000372352;ENST00000372351;ENST00000495699	.	.	.	5.97	3.13	0.36017	.	0.178632	0.48286	D	0.000187	T	0.52948	0.1766	L	0.55103	1.725	0.46396	D	0.999021	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.41378	-0.9512	9	0.23891	T	0.37	-21.0016	10.0683	0.42317	0.2191:0.0:0.7809:0.0	.	255;281	B4DKK6;Q13868	.;EXOS2_HUMAN	L	281;255;273;251;258	.	ENSP00000361426:V251L	V	+	1	0	EXOSC2	132568941	1.000000	0.71417	0.994000	0.49952	0.914000	0.54420	4.774000	0.62339	0.403000	0.25479	-0.150000	0.13652	GTG	EXOSC2	-	NULL	ENSG00000130713		0.463	EXOSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC2	HGNC	protein_coding	OTTHUMT00000054673.1		0.00	48	0	G	NM_014285		133579120	+1			no_errors	ENST00000372358	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T
EXD3	54932	genome.wustl.edu	37	9	140245931	140245931	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:140245931G>A	ENST00000340951.4	-	13	1418	c.1223C>T	c.(1222-1224)gCt>gTt	p.A408V	EXD3_ENST00000342129.4_Missense_Mutation_p.A88V	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CCGGCCCCCAGCAACAAACAC	0.637																																																	0													16.0	21.0	19.0					9																	140245931		2031	4171	6202	SO:0001583	missense	0				CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.1223C>T	9.37:g.140245931G>A	ENSP00000340474:p.Ala408Val		Q6P1M1|Q8IXT8	Missense_Mutation	SNP	pfam_Mut7-C_RNAse_dom,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.A408V	ENST00000340951.4	37	c.1223	CCDS48066.1	9	.	.	.	.	.	.	.	.	.	.	g	8.830	0.939596	0.18281	.	.	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.62639	0.01;0.01	3.9	0.12	0.14691	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.739986	0.12958	N	0.425277	T	0.39682	0.1087	N	0.20483	0.58	0.09310	N	1	B;B	0.17852	0.024;0.023	B;B	0.15052	0.007;0.012	T	0.17228	-1.0376	10	0.29301	T	0.29	.	4.8571	0.13564	0.2397:0.3321:0.4281:0.0	.	88;408	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	V	88;408	ENSP00000343705:A88V;ENSP00000340474:A408V	ENSP00000340474:A408V	A	-	2	0	EXD3	139365752	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.818000	0.01717	0.120000	0.18254	0.290000	0.19541	GCT	EXD3	-	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	ENSG00000187609		0.637	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXD3	HGNC	protein_coding	OTTHUMT00000343182.1	-	0.00	62	0	G	NM_017820		140245931	-1	tier1	-	no_errors	ENST00000340951	ensembl	human	known	74_37	missense	19.40	54	13	SNP	0.000	A
EYA3	2140	genome.wustl.edu	37	1	28300999	28300999	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:28300999G>T	ENST00000373871.3	-	18	1940	c.1700C>A	c.(1699-1701)gCt>gAt	p.A567D	EYA3_ENST00000373864.1_Missense_Mutation_p.A410D|EYA3_ENST00000540618.1_Missense_Mutation_p.A521D|EYA3_ENST00000545175.1_Missense_Mutation_p.A514D|EYA3_ENST00000436342.2_Missense_Mutation_p.A441D	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	567					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		AAGCTCTAAAGCCTGGTGAAG	0.478																																																	0													150.0	141.0	144.0					1																	28300999		2203	4300	6503	SO:0001583	missense	0			U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3521	protein-coding gene	gene with protein product		601655	"""eyes absent (Drosophila) homolog 3"", ""eyes absent homolog 3 (Drosophila)"""			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.1700C>A	1.37:g.28300999G>T	ENSP00000362978:p.Ala567Asp		A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.A567D	ENST00000373871.3	37	c.1700	CCDS316.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.487678	0.96323	.	.	ENSG00000158161	ENST00000373871;ENST00000436342;ENST00000373864;ENST00000540618;ENST00000545175	D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26	5.86	5.86	0.93980	EYA (1);	0.090327	0.85682	D	0.000000	D	0.95617	0.8575	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;0.978	D;P	0.85130	0.997;0.699	D	0.95693	0.8742	10	0.87932	D	0	-4.4168	20.1865	0.98220	0.0:0.0:1.0:0.0	.	521;567	B4DIR7;Q99504	.;EYA3_HUMAN	D	567;441;410;521;514	ENSP00000362978:A567D;ENSP00000405587:A441D;ENSP00000362971:A410D;ENSP00000442558:A521D;ENSP00000442280:A514D	ENSP00000362971:A410D	A	-	2	0	EYA3	28173586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.845000	0.99498	2.775000	0.95449	0.655000	0.94253	GCT	EYA3	-	tigrfam_EYA	ENSG00000158161		0.478	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EYA3	HGNC	protein_coding	OTTHUMT00000011184.1	-	0.00	60	0	G	NM_001990		28300999	-1	tier1	-	no_errors	ENST00000373871	ensembl	human	known	74_37	missense	6.58	71	5	SNP	1.000	T
EYS	346007	genome.wustl.edu	37	6	65767617	65767617	+	Missense_Mutation	SNP	G	G	A	rs199944222		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:65767617G>A	ENST00000370621.3	-	13	2553	c.2027C>T	c.(2026-2028)aCg>aTg	p.T676M	EYS_ENST00000370616.2_Missense_Mutation_p.T676M|EYS_ENST00000503581.1_Missense_Mutation_p.T676M			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	676	EGF-like 7. {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						TTCACATTGCGTACCTTTGGA	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		18496	0.0		0.001	False		,,,				2504	0.0																0													167.0	134.0	144.0					6																	65767617		692	1591	2283	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.2027C>T	6.37:g.65767617G>A	ENSP00000359655:p.Thr676Met		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.T676M	ENST00000370621.3	37	c.2027		6	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672257	0.47781	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.91792	-2.91;-2.91;-2.91	5.58	-7.24	0.01475	.	.	.	.	.	T	0.81550	0.4846	M	0.85041	2.73	0.09310	N	1	B	0.26400	0.148	B	0.21917	0.037	T	0.68383	-0.5423	9	0.45353	T	0.12	.	4.8592	0.13575	0.5129:0.0852:0.2971:0.1049	.	676	Q5T1H1-1	.	M	676	ENSP00000424243:T676M;ENSP00000359655:T676M;ENSP00000359650:T676M	ENSP00000359650:T676M	T	-	2	0	EYS	65824338	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.074000	0.14662	-1.476000	0.01874	-0.186000	0.12905	ACG	EYS	-	smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000188107		0.388	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0.00	80	0	G	XM_294050		65767617	-1	tier1	rs199944222	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	33.65	69	35	SNP	0.000	A
EZH1	2145	genome.wustl.edu	37	17	40858038	40858038	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:40858038C>T	ENST00000428826.2	-	16	1947	c.1826G>A	c.(1825-1827)cGt>cAt	p.R609H	EZH1_ENST00000590783.1_5'UTR|EZH1_ENST00000435174.1_Missense_Mutation_p.R470H|EZH1_ENST00000415827.2_Missense_Mutation_p.R600H|EZH1_ENST00000590078.1_Missense_Mutation_p.R539H|EZH1_ENST00000592743.1_Missense_Mutation_p.R609H|EZH1_ENST00000585893.1_Missense_Mutation_p.R569H			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	609					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CTTAAGTCCACGCTGGATGCT	0.542																																																	0													99.0	75.0	83.0					17																	40858038		2203	4300	6503	SO:0001583	missense	0				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1826G>A	17.37:g.40858038C>T	ENSP00000404658:p.Arg609His		A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.R609H	ENST00000428826.2	37	c.1826	CCDS32659.1	17	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039414	0.93630	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	T;T	0.80909	-1.43;-1.43	5.19	4.18	0.49190	.	0.046364	0.85682	D	0.000000	D	0.91385	0.7282	M	0.93016	3.37	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79108	0.988;0.992;0.992;0.992;0.983	D	0.92607	0.6096	10	0.56958	D	0.05	.	15.2595	0.73610	0.1405:0.8595:0.0:0.0	.	470;569;615;539;609	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	H	612;609;569;470	ENSP00000404658:R609H;ENSP00000404071:R470H	ENSP00000264646:R612H	R	-	2	0	EZH1	38111564	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.898000	0.69838	2.692000	0.91855	0.561000	0.74099	CGT	EZH1	-	NULL	ENSG00000108799		0.542	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EZH1	HGNC	protein_coding	OTTHUMT00000452347.1	-	0.00	88	0	C	NM_001991		40858038	-1	tier1	-	no_errors	ENST00000428826	ensembl	human	known	74_37	missense	5.19	72	4	SNP	1.000	T
FAM129A	116496	genome.wustl.edu	37	1	184853896	184853896	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:184853896G>T	ENST00000367511.3	-	5	665	c.472C>A	c.(472-474)Ctg>Atg	p.L158M		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	158					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCCTTGGGCAGGACCACAAAG	0.458																																																	0													95.0	90.0	92.0					1																	184853896		2203	4300	6503	SO:0001583	missense	0			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.472C>A	1.37:g.184853896G>T	ENSP00000356481:p.Leu158Met		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	NULL	p.L158M	ENST00000367511.3	37	c.472	CCDS1364.1	1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.209995	0.39003	.	.	ENSG00000135842	ENST00000367511	T	0.18338	2.22	5.63	-0.269	0.12930	.	0.401796	0.28036	N	0.016856	T	0.21022	0.0506	L	0.42245	1.32	0.18873	N	0.999989	D	0.76494	0.999	D	0.66979	0.948	T	0.11397	-1.0589	10	0.29301	T	0.29	-1.8358	1.9081	0.03281	0.259:0.1309:0.4603:0.1498	.	158	Q9BZQ8	NIBAN_HUMAN	M	158	ENSP00000356481:L158M	ENSP00000356481:L158M	L	-	1	2	FAM129A	183120519	0.254000	0.23992	0.761000	0.31378	0.783000	0.44284	0.730000	0.26043	0.037000	0.15575	-0.284000	0.09977	CTG	FAM129A	-	NULL	ENSG00000135842		0.458	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129A	HGNC	protein_coding	OTTHUMT00000085786.1	-	0.00	55	0	G			184853896	-1	tier1	-	no_errors	ENST00000367511	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.344	T
AC026369.1	0	genome.wustl.edu	37	12	148811	148811	+	IGR	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:148811G>T	ENST00000594563.1	+	0	129				FAM138D_ENST00000320165.5_lincRNA																							tagtgagactgtgtctccata	0.433																																																	0																																										SO:0001628	intergenic_variant	0																															12.37:g.148811G>T				RNA	SNP	-	NULL	ENST00000594563.1	37	NULL		12																																																																																			FAM138D	-	-	ENSG00000206114		0.433	AC026369.1-201	NOVEL	basic|appris_principal	protein_coding	FAM138D	HGNC	protein_coding			0.00	59	0	G			148811	-1			no_errors	ENST00000320165	ensembl	human	known	74_37	rna	6.25	75	5	SNP	0.177	T
FAM170B	170370	genome.wustl.edu	37	10	50340060	50340060	+	Silent	SNP	G	G	A	rs370110511		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:50340060G>A	ENST00000311787.5	-	2	539	c.450C>T	c.(448-450)aaC>aaT	p.N150N	FAM170B-AS1_ENST00000442525.1_RNA|FAM170B-AS1_ENST00000435809.1_RNA|FAM170B-AS1_ENST00000443389.1_RNA	NM_001164484.1	NP_001157956.1	A6NMN3	F170B_HUMAN	family with sequence similarity 170, member B	150										central_nervous_system(1)|endometrium(1)|skin(1)	3						AGGAGGAGCCGTTCCACCTCT	0.632																																																	0													63.0	62.0	62.0					10																	50340060		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS53536.1	10q11.23	2008-11-06	2008-06-12	2008-06-12	ENSG00000172538	ENSG00000172538			19736	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 73"""	C10orf73			Standard	NM_001164484		Approved	Em:AC084727.4	uc001jhj.3	A6NMN3	OTTHUMG00000018187	ENST00000311787.5:c.450C>T	10.37:g.50340060G>A			Q86WY6|Q8N6K8	Silent	SNP	NULL	p.N150	ENST00000311787.5	37	c.450	CCDS53536.1	10																																																																																			FAM170B	-	NULL	ENSG00000172538		0.632	FAM170B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM170B	HGNC	protein_coding	OTTHUMT00000047974.1	-	0.00	46	0	G	XM_096317		50340060	-1	tier1	-	no_errors	ENST00000311787	ensembl	human	known	74_37	silent	33.33	36	18	SNP	0.465	A
FAM160B1	57700	genome.wustl.edu	37	10	116615069	116615069	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:116615069G>T	ENST00000369248.4	+	14	2252	c.1917G>T	c.(1915-1917)ctG>ctT	p.L639L	FAM160B1_ENST00000369250.3_Silent_p.L639L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	639										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TGAAAGTGCTGTTCGACAGAA	0.358																																																	0													87.0	88.0	88.0					10																	116615069		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.1917G>T	10.37:g.116615069G>T			Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Silent	SNP	pfam_RetinoicA-induced_16-like	p.L639	ENST00000369248.4	37	c.1917	CCDS31290.1	10																																																																																			FAM160B1	-	NULL	ENSG00000151553		0.358	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160B1	HGNC	protein_coding	OTTHUMT00000050499.1	-	0.00	45	0	G	XM_049351		116615069	+1	tier1	-	no_errors	ENST00000369248	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.072	T
FAM193B	54540	genome.wustl.edu	37	5	176950989	176950989	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:176950989C>T	ENST00000514747.1	-	7	2389	c.2341G>A	c.(2341-2343)Gag>Aag	p.E781K	FAM193B_ENST00000329540.5_Missense_Mutation_p.E407K|FAM193B_ENST00000508298.1_5'Flank|FAM193B_ENST00000443375.2_Missense_Mutation_p.E748K	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	861						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						CGGTCAGTCTCATCCATCTCC	0.587																																																	0													228.0	253.0	245.0					5																	176950989		2135	4232	6367	SO:0001583	missense	0				CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.2341G>A	5.37:g.176950989C>T	ENSP00000422131:p.Glu781Lys		E9PET5|Q9NW00	Missense_Mutation	SNP	NULL	p.E748K	ENST00000514747.1	37	c.2242	CCDS54954.1	5	.	.	.	.	.	.	.	.	.	.	C	16.66	3.186338	0.57909	.	.	ENSG00000146067	ENST00000514747;ENST00000443375;ENST00000329540	T;T;T	0.53857	0.6;0.6;0.6	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.72203	0.3431	M	0.64170	1.965	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.87578	0.995;0.998;0.995	T	0.73325	-0.4018	10	0.72032	D	0.01	-25.6272	19.7243	0.96157	0.0:1.0:0.0:0.0	.	781;407;748	E9PET5;E7ER81;E9PEZ8	.;.;.	K	781;748;407	ENSP00000422131:E781K;ENSP00000410098:E748K;ENSP00000332014:E407K	ENSP00000332014:E407K	E	-	1	0	FAM193B	176883595	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.665000	0.90641	0.650000	0.86243	GAG	FAM193B	-	NULL	ENSG00000146067		0.587	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM193B	HGNC	protein_coding	OTTHUMT00000373121.1	-	0.00	47	0	C	NM_019057		176950989	-1	tier1	-	no_errors	ENST00000443375	ensembl	human	known	74_37	missense	61.36	17	27	SNP	1.000	T
FARP1	10160	genome.wustl.edu	37	13	99092216	99092216	+	Splice_Site	SNP	T	T	C			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr13:99092216T>C	ENST00000319562.6	+	22	2700	c.2435T>C	c.(2434-2436)aTt>aCt	p.I812T	FARP1_ENST00000595437.1_Splice_Site_p.I843T|FARP1_ENST00000376586.2_Splice_Site_p.I843T	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	812	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGCCCACAGATTGAGGAGAGC	0.632																																																	0													147.0	163.0	157.0					13																	99092216		2203	4300	6503	SO:0001630	splice_region_variant	0			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2434-1T>C	13.37:g.99092216T>C			Q5JVI9|Q6IQ29	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.I843T	ENST00000319562.6	37	c.2528	CCDS9487.1	13	.	.	.	.	.	.	.	.	.	.	T	11.39	1.623767	0.28889	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.78707	-1.2;-1.2	4.83	4.83	0.62350	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.195314	0.42821	D	0.000656	T	0.72922	0.3521	M	0.66939	2.045	0.80722	D	1	B;B	0.32653	0.379;0.014	B;B	0.30029	0.11;0.042	T	0.69829	-0.5039	10	0.17832	T	0.49	.	13.599	0.62007	0.0:0.0:0.0:1.0	.	812;843	Q9Y4F1;C9JME2	FARP1_HUMAN;.	T	843;812	ENSP00000365771:I843T;ENSP00000322926:I812T	ENSP00000322926:I812T	I	+	2	0	FARP1	97890217	1.000000	0.71417	0.629000	0.29254	0.307000	0.27823	8.040000	0.89188	1.824000	0.53156	0.533000	0.62120	ATT	FARP1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000152767		0.632	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP1	HGNC	protein_coding	OTTHUMT00000045541.3	-	0.00	27	0	T	NM_005766	Missense_Mutation	99092216	+1	tier1	-	no_errors	ENST00000376586	ensembl	human	known	74_37	missense	78.95	4	15	SNP	0.997	C
FBL	2091	genome.wustl.edu	37	19	40329803	40329803	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:40329803G>T	ENST00000221801.3	-	5	534	c.421C>A	c.(421-423)Cgc>Agc	p.R141S	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	141					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		AGCTTGGAGCGGAAGGGGTTC	0.577																																																	0													133.0	121.0	125.0					19																	40329803		2203	4300	6503	SO:0001583	missense	0			AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.421C>A	19.37:g.40329803G>T	ENSP00000221801:p.Arg141Ser		B5BUE8|O75259|Q6IAT5|Q9UPI6	Missense_Mutation	SNP	pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin	p.R141S	ENST00000221801.3	37	c.421	CCDS12545.1	19	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872711	0.72180	.	.	ENSG00000105202	ENST00000221801	.	.	.	5.05	4.02	0.46733	.	0.050578	0.85682	D	0.000000	D	0.85957	0.5818	H	0.98178	4.165	0.80722	D	1	D;D;D	0.89917	0.999;0.995;1.0	D;D;D	0.81914	0.971;0.951;0.995	D	0.86207	0.1622	9	0.87932	D	0	-3.7899	6.4786	0.22049	0.0925:0.0:0.7284:0.179	.	141;80;141	B4DLD4;Q96BS4;P22087	.;.;FBRL_HUMAN	S	141	.	ENSP00000221801:R141S	R	-	1	0	FBL	45021643	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.810000	0.62598	1.143000	0.42306	0.561000	0.74099	CGC	FBL	-	pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin	ENSG00000105202		0.577	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBL	HGNC	protein_coding	OTTHUMT00000462509.4		0.00	69	0	G	NM_001436		40329803	-1			no_errors	ENST00000221801	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T
FERD3L	222894	genome.wustl.edu	37	7	19184740	19184740	+	Silent	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:19184740G>A	ENST00000275461.3	-	1	304	c.246C>T	c.(244-246)cgC>cgT	p.R82R	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	82					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CAcctcttccgcgctcctctt	0.612																																																	0													71.0	54.0	60.0					7																	19184740		2203	4300	6503	SO:0001819	synonymous_variant	0			AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.246C>T	7.37:g.19184740G>A			Q495K0	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R82	ENST00000275461.3	37	c.246	CCDS5368.1	7																																																																																			FERD3L	-	NULL	ENSG00000146618		0.612	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERD3L	HGNC	protein_coding	OTTHUMT00000207627.1	-	0.00	25	0	G			19184740	-1	tier1	-	no_errors	ENST00000275461	ensembl	human	known	74_37	silent	22.73	17	5	SNP	0.000	A
LINC01567	400511	genome.wustl.edu	37	16	24675261	24675261	+	lincRNA	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:24675261G>T	ENST00000414816.1	-	0	388																											gcaggaacaggtgaagagcca	0.483																																																	0																																												0																															16.37:g.24675261G>T				RNA	SNP	-	NULL	ENST00000414816.1	37	NULL		16																																																																																			AC012317.1	-	-	ENSG00000224310		0.483	AC012317.1-001	KNOWN	basic	lincRNA	FLJ45256	Clone_based_vega_gene	lincRNA	OTTHUMT00000254547.2	-	0.00	45	0	G			24675261	-1	tier1	-	no_errors	ENST00000414816	ensembl	human	known	74_37	rna	11.76	120	16	SNP	0.001	T
FLNC	2318	genome.wustl.edu	37	7	128494232	128494232	+	Missense_Mutation	SNP	G	G	T	rs376035195		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:128494232G>T	ENST00000325888.8	+	40	6950	c.6689G>T	c.(6688-6690)cGc>cTc	p.R2230L	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R2197L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2230	Intradomain insert; mediate targeting to Z lines.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGCCGGGAGCGCCTGGGATCC	0.721																																																	0													20.0	27.0	25.0					7																	128494232		1970	4137	6107	SO:0001583	missense	0			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6689G>T	7.37:g.128494232G>T	ENSP00000327145:p.Arg2230Leu		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.R2230L	ENST00000325888.8	37	c.6689	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307024	0.60305	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84800	-1.9;-1.9	5.64	5.64	0.86602	.	0.112857	0.56097	D	0.000025	T	0.77253	0.4103	N	0.19112	0.55	0.45477	D	0.99844	B;B	0.26483	0.15;0.0	B;B	0.22880	0.042;0.002	T	0.74166	-0.3753	10	0.49607	T	0.09	.	17.1975	0.86897	0.0:0.0:1.0:0.0	.	2197;2230	Q14315-2;Q14315	.;FLNC_HUMAN	L	2230;2197	ENSP00000327145:R2230L;ENSP00000344002:R2197L	ENSP00000327145:R2230L	R	+	2	0	FLNC	128281468	1.000000	0.71417	0.968000	0.41197	0.980000	0.70556	8.956000	0.93066	2.655000	0.90218	0.655000	0.94253	CGC	FLNC	-	smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000128591		0.721	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3		0.00	17	0	G			128494232	+1			no_errors	ENST00000325888	ensembl	human	known	74_37	missense	12.50	14	2	SNP	0.996	T
FLRT2	23768	genome.wustl.edu	37	14	86088429	86088429	+	Silent	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr14:86088429C>A	ENST00000330753.4	+	2	1338	c.571C>A	c.(571-573)Cga>Aga	p.R191R	FLRT2_ENST00000554746.1_Silent_p.R191R	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	191					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GGATGAAAATCGAATTGCTGT	0.498																																																	0													97.0	98.0	98.0					14																	86088429		2203	4300	6503	SO:0001819	synonymous_variant	0			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.571C>A	14.37:g.86088429C>A			A0AV84|B7ZLP3	Silent	SNP	pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.R191	ENST00000330753.4	37	c.571	CCDS9877.1	14																																																																																			FLRT2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000185070		0.498	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1		0.00	36	0	C			86088429	+1			no_errors	ENST00000330753	ensembl	human	known	74_37	silent	6.67	28	2	SNP	1.000	A
FN1	2335	genome.wustl.edu	37	2	216248103	216248103	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:216248103G>T	ENST00000359671.1	-	30	4990	c.4725C>A	c.(4723-4725)acC>acA	p.T1575T	FN1_ENST00000357009.2_Silent_p.T1575T|FN1_ENST00000421182.1_Silent_p.T1575T|FN1_ENST00000346544.3_Silent_p.T1575T|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000443816.1_Silent_p.T1575T|FN1_ENST00000354785.4_Silent_p.T1666T|FN1_ENST00000323926.6_Silent_p.T1666T|FN1_ENST00000446046.1_Silent_p.T1575T|FN1_ENST00000356005.4_Silent_p.T1575T|FN1_ENST00000345488.5_Silent_p.T1575T|FN1_ENST00000357867.4_Silent_p.T1575T|FN1_ENST00000336916.4_Silent_p.T1575T|FN1_ENST00000432072.2_Silent_p.T1666T			P02751	FINC_HUMAN	fibronectin 1	1575	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TGGGAGTGGTGGTTACTCTGT	0.483																																																	0													241.0	187.0	205.0					2																	216248103		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.4725C>A	2.37:g.216248103G>T			B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.T1666	ENST00000359671.1	37	c.4998		2																																																																																			FN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000115414		0.483	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		-	0.00	60	0	G	NM_212476		216248103	-1	tier1	-	no_errors	ENST00000354785	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.023	T
FREM1	158326	genome.wustl.edu	37	9	14857655	14857655	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:14857655G>T	ENST00000380880.3	-	5	1507	c.724C>A	c.(724-726)Ctg>Atg	p.L242M	FREM1_ENST00000380881.4_Missense_Mutation_p.L242M|FREM1_ENST00000422223.2_Missense_Mutation_p.L242M			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	242					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.L242L(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGGCCCATCAGCAGGAACTCC	0.468																																																	1	Substitution - coding silent(1)	endometrium(1)											156.0	152.0	154.0					9																	14857655		1894	4129	6023	SO:0001583	missense	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.724C>A	9.37:g.14857655G>T	ENSP00000370262:p.Leu242Met		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.L242M	ENST00000380880.3	37	c.724	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572706	0.28092	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.10860	2.83;2.83;2.83	6.17	2.18	0.27775	.	0.354413	0.30879	N	0.008681	T	0.06280	0.0162	N	0.21583	0.68	0.23406	N	0.997744	B	0.20780	0.048	B	0.24006	0.05	T	0.29731	-1.0002	10	0.46703	T	0.11	-1.5572	3.0595	0.06195	0.1944:0.0984:0.5428:0.1644	.	242	Q5H8C1	FREM1_HUMAN	M	242	ENSP00000370263:L242M;ENSP00000412940:L242M;ENSP00000370262:L242M	ENSP00000370257:L242M	L	-	1	2	FREM1	14847655	0.000000	0.05858	1.000000	0.80357	0.976000	0.68499	-0.982000	0.03762	0.501000	0.28013	0.655000	0.94253	CTG	FREM1	-	NULL	ENSG00000164946		0.468	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2		0.00	49	0	G	NM_144966		14857655	-1			no_errors	ENST00000380881	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.923	T
FREM3	166752	genome.wustl.edu	37	4	144617459	144617459	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr4:144617459G>T	ENST00000329798.5	-	1	4369	c.4370C>A	c.(4369-4371)tCt>tAt	p.S1457Y		NM_001168235.1	NP_001161707.1	P0C091	FREM3_HUMAN	FRAS1 related extracellular matrix 3	1457					cell adhesion (GO:0007155)|cell communication (GO:0007154)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	8						ATGTTCATCAGAGCTGTTGAT	0.468																																																	0													323.0	252.0	274.0					4																	144617459		692	1591	2283	SO:0001583	missense	0			BX091796	CCDS54808.1	4q31.21	2011-06-09			ENSG00000183090	ENSG00000183090			25172	protein-coding gene	gene with protein product		608946				15345741	Standard	NM_001168235		Approved		uc021xsj.1	P0C091	OTTHUMG00000161577	ENST00000329798.5:c.4370C>A	4.37:g.144617459G>T	ENSP00000332886:p.Ser1457Tyr			Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.S1457Y	ENST00000329798.5	37	c.4370	CCDS54808.1	4	.	.	.	.	.	.	.	.	.	.	G	10.35	1.324955	0.24080	.	.	ENSG00000183090	ENST00000329798	T	0.52983	0.64	4.33	2.58	0.30949	.	0.137236	0.49305	D	0.000153	T	0.45236	0.1332	L	0.48642	1.525	0.26593	N	0.973169	.	.	.	.	.	.	T	0.39860	-0.9593	8	0.72032	D	0.01	-0.0332	7.885	0.29644	0.0877:0.0:0.7521:0.1603	.	.	.	.	Y	1457	ENSP00000332886:S1457Y	ENSP00000332886:S1457Y	S	-	2	0	FREM3	144836909	1.000000	0.71417	0.038000	0.18304	0.469000	0.32828	4.064000	0.57506	0.446000	0.26666	0.655000	0.94253	TCT	FREM3	-	NULL	ENSG00000183090		0.468	FREM3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	FREM3	HGNC	protein_coding	OTTHUMT00000365391.1	-	0.00	91	0	G	XM_094074		144617459	-1	tier1	-	no_errors	ENST00000329798	ensembl	human	putative	74_37	missense	7.55	49	4	SNP	1.000	T
FTO	79068	genome.wustl.edu	37	16	53860211	53860211	+	Nonsense_Mutation	SNP	G	G	T	rs577569584		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:53860211G>T	ENST00000471389.1	+	3	781	c.559G>T	c.(559-561)Gga>Tga	p.G187*	FTO_ENST00000394647.3_Intron	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	187	Fe2OG dioxygenase domain.				adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ATCCTACAACGGACAAGATGA	0.448																																																	0													156.0	135.0	142.0					16																	53860211		2198	4300	6498	SO:0001587	stop_gained	0			BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.559G>T	16.37:g.53860211G>T	ENSP00000418823:p.Gly187*		A2RUH1|B2RNS0|Q0P676|Q7Z785	Nonsense_Mutation	SNP	NULL	p.G187*	ENST00000471389.1	37	c.559	CCDS32448.1	16	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337883	0.60963	.	.	ENSG00000140718	ENST00000471389	.	.	.	4.33	0.641	0.17759	.	0.703054	0.14383	N	0.323031	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-5.9847	2.2982	0.04155	0.1967:0.3203:0.3638:0.1192	.	.	.	.	X	187	.	ENSP00000418823:G187X	G	+	1	0	FTO	52417712	0.036000	0.19791	0.006000	0.13384	0.579000	0.36224	0.526000	0.22971	0.165000	0.19558	0.563000	0.77884	GGA	FTO	-	NULL	ENSG00000140718		0.448	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTO	HGNC	protein_coding	OTTHUMT00000352196.1		0.00	50	0	G	NM_001080432		53860211	+1			no_errors	ENST00000471389	ensembl	human	known	74_37	nonsense	7.41	25	2	SNP	0.000	T
GABRA6	2559	genome.wustl.edu	37	5	161113276	161113276	+	Missense_Mutation	SNP	T	T	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:161113276T>G	ENST00000274545.5	+	2	512	c.79T>G	c.(79-81)Ttc>Gtc	p.F27V	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000522269.1_3'UTR|GABRA6_ENST00000523217.1_Missense_Mutation_p.F27V			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	27					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGAAGGCAACTTCTACTCAGA	0.478										TCGA Ovarian(5;0.080)																																							0													100.0	100.0	100.0					5																	161113276		2203	4300	6503	SO:0001583	missense	0				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.79T>G	5.37:g.161113276T>G	ENSP00000274545:p.Phe27Val		A8K096|Q4VAV2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.F27V	ENST00000274545.5	37	c.79	CCDS4356.1	5	.	.	.	.	.	.	.	.	.	.	T	8.267	0.812507	0.16537	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	T;T	0.79653	-1.29;-0.53	5.3	0.662	0.17880	.	0.576311	0.19120	N	0.122212	T	0.57198	0.2037	N	0.08118	0	0.32168	N	0.582058	B	0.02656	0.0	B	0.04013	0.001	T	0.48822	-0.9001	10	0.27082	T	0.32	.	6.6582	0.22998	0.0:0.6185:0.1871:0.1944	.	27	Q16445	GBRA6_HUMAN	V	27	ENSP00000274545:F27V;ENSP00000430527:F27V	ENSP00000274545:F27V	F	+	1	0	GABRA6	161045854	0.266000	0.24112	0.582000	0.28627	0.093000	0.18481	0.759000	0.26461	-0.107000	0.12088	-0.274000	0.10170	TTC	GABRA6	-	prints_GABBAa6_rcpt,tigrfam_Neur_channel	ENSG00000145863		0.478	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA6	HGNC	protein_coding	OTTHUMT00000252707.2	-	0.00	36	0	T			161113276	+1	tier1	-	no_errors	ENST00000274545	ensembl	human	known	74_37	missense	44.74	21	17	SNP	0.990	G
GABRA6	2559	genome.wustl.edu	37	5	161116331	161116331	+	Missense_Mutation	SNP	A	A	C			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:161116331A>C	ENST00000274545.5	+	5	951	c.518A>C	c.(517-519)aAg>aCg	p.K173T	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.K163T			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	173					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.K173T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGTCCACTCAAGTTTGGGAGC	0.393										TCGA Ovarian(5;0.080)																																							1	Substitution - Missense(1)	large_intestine(1)											123.0	110.0	114.0					5																	161116331		2203	4300	6503	SO:0001583	missense	0				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.518A>C	5.37:g.161116331A>C	ENSP00000274545:p.Lys173Thr		A8K096|Q4VAV2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.K173T	ENST00000274545.5	37	c.518	CCDS4356.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.1|21.1	4.105012|4.105012	0.77096|0.77096	.|.	.|.	ENSG00000145863|ENSG00000145863	ENST00000274545;ENST00000523217;ENST00000517823;ENST00000523691|ENST00000520000	T;T;T;T|.	0.80566|.	-1.39;-1.39;-1.39;-1.39|.	5.74|5.74	5.74|5.74	0.90152|0.90152	Neurotransmitter-gated ion-channel ligand-binding (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60843|0.60843	0.2300|0.2300	L|L	0.41356|0.41356	1.27|1.27	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.78314|.	0.991|.	T|T	0.57341|0.57341	-0.7828|-0.7828	10|5	0.87932|.	D|.	0|.	.|.	16.0395|16.0395	0.80654|0.80654	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	173|.	Q16445|.	GBRA6_HUMAN|.	T|R	173;163;120;68|113	ENSP00000274545:K173T;ENSP00000430527:K163T;ENSP00000430212:K120T;ENSP00000427989:K68T|.	ENSP00000274545:K173T|.	K|S	+|+	2|1	0|0	GABRA6|GABRA6	161048909|161048909	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.228000|9.228000	0.95250|0.95250	2.188000|2.188000	0.69820|0.69820	0.533000|0.533000	0.62120|0.62120	AAG|AGT	GABRA6	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000145863		0.393	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA6	HGNC	protein_coding	OTTHUMT00000252707.2	-	0.00	77	0	A			161116331	+1	tier1	-	no_errors	ENST00000274545	ensembl	human	known	74_37	missense	22.06	53	15	SNP	1.000	C
GCGR	2642	genome.wustl.edu	37	17	79769647	79769647	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:79769647G>A	ENST00000400723.3	+	8	1071	c.778G>A	c.(778-780)Gag>Aag	p.E260K	GCGR_ENST00000570996.1_Missense_Mutation_p.E290K	NM_000160.3	NP_000151.1	P47871	GLR_HUMAN	glucagon receptor	260					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|exocytosis (GO:0006887)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|hormone-mediated signaling pathway (GO:0009755)|positive regulation of GTPase activity (GO:0043547)|regulation of blood pressure (GO:0008217)|regulation of glycogen metabolic process (GO:0070873)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|guanyl-nucleotide exchange factor activity (GO:0005085)|peptide hormone binding (GO:0017046)			endometrium(2)	2					Glucagon recombinant(DB00040)	CACCCTCCCCGAGAGGAGCTT	0.632																																																	0													49.0	50.0	49.0					17																	79769647		692	1591	2283	SO:0001583	missense	0			U03469, L20316	CCDS54177.1	17q25	2012-08-10			ENSG00000215644	ENSG00000215644		"""GPCR / Class B : Glucagon receptors"""	4192	protein-coding gene	gene with protein product		138033				8020989	Standard	XM_006722276		Approved	GGR	uc010wuw.2	P47871		ENST00000400723.3:c.778G>A	17.37:g.79769647G>A	ENSP00000383558:p.Glu260Lys		Q2M3M5	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_glucagon_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt	p.E260K	ENST00000400723.3	37	c.778	CCDS54177.1	17	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390017	0.42410	.	.	ENSG00000215644	ENST00000400723	T	0.35048	1.33	4.44	3.47	0.39725	GPCR, family 2-like (1);	.	.	.	.	T	0.52208	0.1720	M	0.87682	2.9	0.58432	D	0.999999	P	0.34977	0.478	B	0.44085	0.44	T	0.60188	-0.7312	9	0.62326	D	0.03	.	12.6631	0.56826	0.0823:0.0:0.9177:0.0	.	260	P47871	GLR_HUMAN	K	260	ENSP00000383558:E260K	ENSP00000383558:E260K	E	+	1	0	GCGR	.	1.000000	0.71417	0.365000	0.25901	0.104000	0.19210	5.221000	0.65272	1.215000	0.43411	-0.254000	0.11334	GAG	GCGR	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_glucagon_rcpt,prints_GPCR_2_GIP_rcpt	ENSG00000215644		0.632	GCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCGR	HGNC	protein_coding	OTTHUMT00000439676.1	-	0.00	71	0	G	NM_000160		79769647	+1	tier1	-	no_errors	ENST00000400723	ensembl	human	known	74_37	missense	27.45	37	14	SNP	0.998	A
GFPT2	9945	genome.wustl.edu	37	5	179751188	179751188	+	Splice_Site	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:179751188C>A	ENST00000253778.8	-	9	963	c.794G>T	c.(793-795)aGc>aTc	p.S265I	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	265	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GCTCAGTTACCTTGCATCAGA	0.483																																																	0													83.0	88.0	86.0					5																	179751188		2075	4217	6292	SO:0001630	splice_region_variant	0			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.794+1G>T	5.37:g.179751188C>A			Q53XM2|Q9BWS4	Missense_Mutation	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.S265I	ENST00000253778.8	37	c.794	CCDS43411.1	5	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478219	0.84747	.	.	ENSG00000131459	ENST00000253778;ENST00000518906	T;T	0.76448	0.84;-1.02	5.56	5.56	0.83823	Glutamine amidotransferase, type II (1);	0.000000	0.85682	D	0.000000	D	0.87799	0.6268	M	0.82433	2.59	0.80722	D	1	D	0.62365	0.991	P	0.58820	0.846	D	0.88015	0.2765	9	.	.	.	-25.1061	19.5349	0.95247	0.0:1.0:0.0:0.0	.	265	O94808	GFPT2_HUMAN	I	265;167	ENSP00000253778:S265I;ENSP00000431125:S167I	.	S	-	2	0	GFPT2	179683794	1.000000	0.71417	0.991000	0.47740	0.681000	0.39784	7.679000	0.84048	2.618000	0.88619	0.561000	0.74099	AGC	GFPT2	-	tigrfam_GlmS_trans	ENSG00000131459		0.483	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFPT2	HGNC	protein_coding	OTTHUMT00000373444.4	-	0.00	41	0	C	NM_005110	Missense_Mutation	179751188	-1	tier1	-	no_errors	ENST00000253778	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A
GFRA1	2674	genome.wustl.edu	37	10	118031698	118031698	+	5'UTR	SNP	C	C	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:118031698C>G	ENST00000355422.6	-	0	394				GFRA1_ENST00000439649.3_5'UTR|GFRA1_ENST00000490345.1_5'UTR|GFRA1_ENST00000369236.1_5'UTR	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1						axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		AACTCCGGGTCTGGCAGCAGC	0.662																																					Ovarian(128;329 1725 45498 46808 50759)												0																																										SO:0001623	5_prime_UTR_variant	0			AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.-157G>C	10.37:g.118031698C>G			A8KA21|O15507|O43912	RNA	SNP	-	NULL	ENST00000355422.6	37	NULL	CCDS44481.1	10																																																																																			GFRA1	-	-	ENSG00000151892		0.662	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GFRA1	HGNC	protein_coding	OTTHUMT00000050512.2	-	0.00	14	0	C	NM_145793		118031698	-1	tier1	-	no_errors	ENST00000490345	ensembl	human	known	74_37	rna	36.36	7	4	SNP	0.019	G
GGTA1P	2681	genome.wustl.edu	37	9	124223557	124223557	+	RNA	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:124223557C>A	ENST00000495328.1	-	0	540							Q4G0N0	GGTA1_HUMAN	glycoprotein, alpha-galactosyltransferase 1 pseudogene						glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|protein galactosylation at cell surface (GO:0033580)	anchored component of external side of plasma membrane (GO:0031362)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|transferase activity, transferring hexosyl groups (GO:0016758)										CAGAAACCACCAGCCCTTCTG	0.458																																																	0																																												0					9q33.2	2011-05-04	2010-03-19	2011-05-04	ENSG00000204136	ENSG00000204136			4253	pseudogene	pseudogene		104175	"""glycoprotein, alpha-galactosyltransferase 1"""	GLYT2, GGTA, GGTA1		1559713, 2108966	Standard	NR_003191		Approved		uc004bll.1	Q4G0N0	OTTHUMG00000020592		9.37:g.124223557C>A			A2JVH9	RNA	SNP	-	NULL	ENST00000495328.1	37	NULL		9																																																																																			GGTA1P	-	-	ENSG00000204136		0.458	GGTA1P-003	KNOWN	basic	processed_transcript	GGTA1P	HGNC	pseudogene	OTTHUMT00000337174.1		0.00	47	0	C	NR_003191		124223557	-1			no_errors	ENST00000373793	ensembl	human	known	74_37	rna	5.56	68	4	SNP	1.000	A
GJA8	2703	genome.wustl.edu	37	1	147381036	147381036	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:147381036G>T	ENST00000369235.1	+	1	954	c.954G>T	c.(952-954)gaG>gaT	p.E318D	GJA8_ENST00000240986.4_Missense_Mutation_p.E318D			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	318					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GCTACCAAGAGACACTGCCTT	0.632																																					Melanoma(76;1255 1795 8195 52096)												0													27.0	28.0	28.0					1																	147381036		2203	4300	6503	SO:0001583	missense	0			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.954G>T	1.37:g.147381036G>T	ENSP00000358238:p.Glu318Asp		A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin50,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin50	p.E318D	ENST00000369235.1	37	c.954	CCDS30834.1	1	.	.	.	.	.	.	.	.	.	.	g	16.76	3.213062	0.58452	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.84298	-1.83;-1.83	4.95	2.93	0.34026	.	1.358490	0.05386	N	0.538175	D	0.83280	0.5220	L	0.32530	0.975	0.44221	D	0.997056	D	0.76494	0.999	D	0.80764	0.994	T	0.77046	-0.2733	10	0.35671	T	0.21	.	9.0466	0.36349	0.2533:0.0:0.7467:0.0	.	318	P48165	CXA8_HUMAN	D	318	ENSP00000240986:E318D;ENSP00000358238:E318D	ENSP00000240986:E318D	E	+	3	2	GJA8	145847660	1.000000	0.71417	0.981000	0.43875	0.978000	0.69477	2.582000	0.46085	1.298000	0.44778	0.561000	0.74099	GAG	GJA8	-	pfam_Connexin50,prints_Connexin50	ENSG00000121634		0.632	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA8	HGNC	protein_coding	OTTHUMT00000060647.1		0.00	38	0	G	NM_005267		147381036	+1			no_errors	ENST00000240986	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T
GLDC	2731	genome.wustl.edu	37	9	6554686	6554686	+	Silent	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:6554686G>A	ENST00000321612.6	-	19	2448	c.2298C>T	c.(2296-2298)ggC>ggT	p.G766G		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	766					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	TGGGCCCCATGCCAGGACCAC	0.537																																																	0													52.0	45.0	47.0					9																	6554686		2203	4300	6503	SO:0001819	synonymous_variant	0			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2298C>T	9.37:g.6554686G>A			Q2M2F8	Silent	SNP	pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo	p.G766	ENST00000321612.6	37	c.2298	CCDS34987.1	9																																																																																			GLDC	-	pfam_GDC-P_N,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo	ENSG00000178445		0.537	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDC	HGNC	protein_coding	OTTHUMT00000051674.2		0.00	70	0	G	NM_000170		6554686	-1			no_errors	ENST00000321612	ensembl	human	known	74_37	silent	5.00	76	4	SNP	1.000	A
GNA13	10672	genome.wustl.edu	37	17	63052436	63052436	+	Silent	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:63052436C>T	ENST00000439174.2	-	1	521	c.276G>A	c.(274-276)gtG>gtA	p.V92V	GNA13_ENST00000541118.1_5'Flank	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	92					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						caccTTTGATCACGTTGCTGT	0.711																																																	0													22.0	25.0	24.0					17																	63052436		2202	4299	6501	SO:0001819	synonymous_variant	0			L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.276G>A	17.37:g.63052436C>T			B2R977|B7Z7R0|F5H1G8|Q8TD70	Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_12	p.V92	ENST00000439174.2	37	c.276	CCDS11661.1	17																																																																																			GNA13	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_12	ENSG00000120063		0.711	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA13	HGNC	protein_coding	OTTHUMT00000445720.1	-	0.00	55	0	C	NM_006572		63052436	-1	tier1	-	no_errors	ENST00000439174	ensembl	human	known	74_37	silent	12.82	68	10	SNP	0.994	T
GNAS	2778	genome.wustl.edu	37	20	57466893	57466893	+	Silent	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr20:57466893C>A	ENST00000371085.3	+	1	536	c.112C>A	c.(112-114)Cgg>Agg	p.R38R	GNAS_ENST00000371102.4_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000354359.7_Silent_p.R38R|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000306090.10_Silent_p.R38R|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371100.4_Intron|GNAS_ENST00000371095.3_Silent_p.R38R|GNAS_ENST00000371081.1_Silent_p.R38R|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000265620.7_Silent_p.R38R	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	38					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCAGGTCTACCGGGCCACGCA	0.716			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	0			GRCh37	CD002905	GNAS	D							46.0	36.0	40.0					20																	57466893		2194	4292	6486	SO:0001819	synonymous_variant	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.112C>A	20.37:g.57466893C>A			A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.R38	ENST00000371085.3	37	c.112	CCDS13472.1	20																																																																																			GNAS	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su	ENSG00000087460		0.716	GNAS-015	KNOWN	basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080431.2		0.00	42	0	C	NM_000516		57466893	+1			no_errors	ENST00000354359	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.934	A
GOLGA4	2803	genome.wustl.edu	37	3	37381677	37381677	+	Silent	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:37381677G>A	ENST00000361924.2	+	20	6833	c.6459G>A	c.(6457-6459)ggG>ggA	p.G2153G	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Silent_p.G2168G|RNA5SP129_ENST00000410276.1_RNA	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2153					Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAACTGTGGGGACACCTTACA	0.294																																																	0													77.0	79.0	78.0					3																	37381677		2203	4295	6498	SO:0001819	synonymous_variant	0			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.6459G>A	3.37:g.37381677G>A			F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Silent	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.G2153	ENST00000361924.2	37	c.6459	CCDS2666.1	3																																																																																			GOLGA4	-	NULL	ENSG00000144674		0.294	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	-	0.00	40	0	G	NM_002078		37381677	+1	tier1	-	no_errors	ENST00000361924	ensembl	human	known	74_37	silent	44.74	21	17	SNP	0.921	A
GPR126	57211	genome.wustl.edu	37	6	142715088	142715088	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:142715088G>T	ENST00000230173.6	+	9	1893	c.1417G>T	c.(1417-1419)Gag>Tag	p.E473*	GPR126_ENST00000367608.2_Nonsense_Mutation_p.E445*|GPR126_ENST00000296932.8_Nonsense_Mutation_p.E445*|GPR126_ENST00000367609.3_Nonsense_Mutation_p.E473*	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	473					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)		CCTTGAGGATGAGCCAAGGTA	0.353																																																	0													111.0	101.0	104.0					6																	142715088		1845	4085	5930	SO:0001587	stop_gained	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.1417G>T	6.37:g.142715088G>T	ENSP00000230173:p.Glu473*		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Nonsense_Mutation	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.E473*	ENST00000230173.6	37	c.1417	CCDS47490.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.776541|7.776541	0.98483|0.98483	.|.	.|.	ENSG00000112414|ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609|ENST00000508295	.|.	.|.	.|.	5.42|5.42	4.55|4.55	0.56014|0.56014	.|.	0.512405|.	0.19162|.	N|.	0.121157|.	.|T	.|0.35480	.|0.0933	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.31251	.|-0.9950	.|3	0.24483|.	T|.	0.36|.	.|.	8.1809|8.1809	0.31311|0.31311	0.0848:0.1575:0.7577:0.0|0.0848:0.1575:0.7577:0.0	.|.	.|.	.|.	.|.	X|I	473;445;445;473|47	.|.	ENSP00000230173:E473X|.	E|M	+|+	1|3	0|0	GPR126|GPR126	142756781|142756781	0.979000|0.979000	0.34478|0.34478	0.040000|0.040000	0.18447|0.18447	0.074000|0.074000	0.17049|0.17049	2.147000|2.147000	0.42226|0.42226	1.414000|1.414000	0.47017|0.47017	0.591000|0.591000	0.81541|0.81541	GAG|ATG	GPR126	-	NULL	ENSG00000112414		0.353	GPR126-001	KNOWN	basic|CCDS	protein_coding	GPR126	HGNC	protein_coding	OTTHUMT00000042487.2	-	0.00	68	0	G			142715088	+1	tier1	-	no_errors	ENST00000367609	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	0.655	T
GRIA1	2890	genome.wustl.edu	37	5	153026596	153026596	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:153026596C>T	ENST00000285900.5	+	3	672	c.329C>T	c.(328-330)aCg>aTg	p.T110M	GRIA1_ENST00000521843.2_Missense_Mutation_p.T41M|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000340592.5_Missense_Mutation_p.T110M|GRIA1_ENST00000448073.4_Missense_Mutation_p.T120M|GRIA1_ENST00000518783.1_Missense_Mutation_p.T120M|GRIA1_ENST00000518142.1_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	110					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.T110M(3)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TGCTTCATTACGCCGAGCTTT	0.502																																																	3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)											170.0	154.0	160.0					5																	153026596		2203	4300	6503	SO:0001583	missense	0				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.329C>T	5.37:g.153026596C>T	ENSP00000285900:p.Thr110Met		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.T120M	ENST00000285900.5	37	c.359	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669632	0.88348	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	5.55	5.55	0.83447	Extracellular ligand-binding receptor (1);	0.047603	0.85682	D	0.000000	D	0.92100	0.7496	M	0.73217	2.22	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;0.999;0.981	D	0.92611	0.6099	10	0.87932	D	0	.	18.489	0.90839	0.0:1.0:0.0:0.0	.	120;120;120;110;110	E7ESV8;B7Z9G9;B7Z2W8;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	M	110;110;64;110;41;41;120;120	ENSP00000285900:T110M;ENSP00000339343:T110M;ENSP00000427864:T41M;ENSP00000442108:T41M;ENSP00000428994:T120M;ENSP00000415569:T120M	ENSP00000285900:T110M	T	+	2	0	GRIA1	153006789	1.000000	0.71417	0.359000	0.25824	0.866000	0.49608	7.581000	0.82535	2.612000	0.88384	0.655000	0.94253	ACG	GRIA1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000155511		0.502	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	-	0.00	66	0	C			153026596	+1	tier1	-	no_errors	ENST00000448073	ensembl	human	known	74_37	missense	58.33	20	28	SNP	1.000	T
GRIN3A	116443	genome.wustl.edu	37	9	104385674	104385674	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:104385674G>A	ENST00000361820.3	-	5	3140	c.2540C>T	c.(2539-2541)gCc>gTc	p.A847V		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	847					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)	ATCCAGAAGGGCTTTGTCCAT	0.403																																																	0													170.0	152.0	158.0					9																	104385674		2203	4300	6503	SO:0001583	missense	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.2540C>T	9.37:g.104385674G>A	ENSP00000355155:p.Ala847Val		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.A847V	ENST00000361820.3	37	c.2540	CCDS6758.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.143713	0.94603	.	.	ENSG00000198785	ENST00000361820	T	0.26373	1.74	5.72	5.72	0.89469	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.060559	0.64402	D	0.000004	T	0.50017	0.1591	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.44907	-0.9297	10	0.72032	D	0.01	.	19.8937	0.96942	0.0:0.0:1.0:0.0	.	847	Q8TCU5	NMD3A_HUMAN	V	847	ENSP00000355155:A847V	ENSP00000355155:A847V	A	-	2	0	GRIN3A	103425495	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.869000	0.99810	2.716000	0.92895	0.650000	0.86243	GCC	GRIN3A	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000198785		0.403	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	HGNC	protein_coding	OTTHUMT00000053453.1	-	0.00	42	0	G			104385674	-1	tier1	-	no_errors	ENST00000361820	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	A
GRM4	2914	genome.wustl.edu	37	6	34029734	34029734	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:34029734G>A	ENST00000538487.2	-	4	1251	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	GRM4_ENST00000535756.1_Missense_Mutation_p.R137C|GRM4_ENST00000374177.3_Missense_Mutation_p.R201C|GRM4_ENST00000455714.2_Missense_Mutation_p.R130C|GRM4_ENST00000544773.2_Missense_Mutation_p.R101C|GRM4_ENST00000374181.4_Missense_Mutation_p.R270C|GRM4_ENST00000609222.1_Missense_Mutation_p.R137C|GRM4_ENST00000545715.1_5'UTR	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	270					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AGGAGGCGGCGGATGATCTTG	0.632																																																	0													142.0	120.0	127.0					6																	34029734		2203	4300	6503	SO:0001583	missense	0			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.808C>T	6.37:g.34029734G>A	ENSP00000440556:p.Arg270Cys		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B	p.R270C	ENST00000538487.2	37	c.808	CCDS4787.1	6	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963000	0.74016	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	4.01	0.826	0.18829	Extracellular ligand-binding receptor (1);	0.169534	0.37219	N	0.002182	D	0.85396	0.5687	M	0.82823	2.61	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.999;0.999;0.999;0.998	P;P;P;P;D	0.64877	0.892;0.901;0.862;0.828;0.93	D	0.84916	0.0851	10	0.72032	D	0.01	.	8.8745	0.35337	0.0:0.1454:0.5542:0.3004	.	270;101;130;270;137	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	C	270;201;137;101;270;130	ENSP00000363296:R270C;ENSP00000363292:R201C;ENSP00000437925:R137C;ENSP00000437730:R101C;ENSP00000440556:R270C;ENSP00000398456:R130C	ENSP00000363292:R201C	R	-	1	0	GRM4	34137712	0.957000	0.32711	0.984000	0.44739	0.985000	0.73830	1.471000	0.35365	0.033000	0.15463	0.530000	0.56133	CGC	GRM4	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt	ENSG00000124493		0.632	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM4	HGNC	protein_coding	OTTHUMT00000040213.2	-	0.00	45	0	G			34029734	-1	tier1	-	no_errors	ENST00000374181	ensembl	human	known	74_37	missense	88.71	7	55	SNP	0.970	A
GRTP1	79774	genome.wustl.edu	37	13	113980051	113980051	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr13:113980051G>T	ENST00000375431.4	-	7	920	c.846C>A	c.(844-846)agC>agA	p.S282R	GRTP1_ENST00000326039.3_Missense_Mutation_p.S204R|GRTP1_ENST00000375430.4_Missense_Mutation_p.S282R	NM_024719.2	NP_078995.2	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	282				S -> T (in Ref. 4; AAH33071). {ECO:0000305}.			Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			TGTCTGGAACGCTGGTGGCTT	0.493																																																	0													107.0	104.0	105.0					13																	113980051		2203	4300	6503	SO:0001583	missense	0			AK026127	CCDS9534.2, CCDS66591.1, CCDS73606.1	13q34	2011-11-30			ENSG00000139835	ENSG00000139835			20310	protein-coding gene	gene with protein product						11564724	Standard	NM_001286732		Approved	FLJ22474, TBC1D6	uc001vtn.3	Q5TC63	OTTHUMG00000017381	ENST00000375431.4:c.846C>A	13.37:g.113980051G>T	ENSP00000364580:p.Ser282Arg		B9A6K2|Q2M232|Q5TC64|Q66K26|Q6P659|Q8N528|Q9H695	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.S282R	ENST00000375431.4	37	c.846	CCDS9534.2	13	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398356	0.25205	.	.	ENSG00000139835	ENST00000375431;ENST00000326039;ENST00000375430	T;T;T	0.24723	1.84;1.84;1.84	4.97	-0.264	0.12950	Rab-GAP/TBC domain (1);	0.358946	0.30519	N	0.009459	T	0.37237	0.0996	M	0.74258	2.255	0.21802	N	0.99954	P;D	0.58268	0.922;0.982	P;P	0.53185	0.683;0.72	T	0.31668	-0.9935	10	0.66056	D	0.02	.	10.7787	0.46365	0.428:0.0:0.572:0.0	.	282;282	B9A6K2;Q5TC63	.;GRTP1_HUMAN	R	282;204;282	ENSP00000364580:S282R;ENSP00000321850:S204R;ENSP00000364579:S282R	ENSP00000321850:S204R	S	-	3	2	GRTP1	113028052	0.003000	0.15002	0.088000	0.20740	0.030000	0.12068	-0.725000	0.04942	-0.048000	0.13401	0.462000	0.41574	AGC	GRTP1	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000139835		0.493	GRTP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	GRTP1	HGNC	protein_coding	OTTHUMT00000045882.5	-	0.00	45	0	G	NM_024719		113980051	-1	tier1	-	no_errors	ENST00000375430	ensembl	human	known	74_37	missense	22.22	14	4	SNP	0.097	T
GSAP	54103	genome.wustl.edu	37	7	76984923	76984923	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:76984923G>T	ENST00000257626.7	-	15	1147	c.1069C>A	c.(1069-1071)Cta>Ata	p.L357I		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	357					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										ACATTAAGTAGGTGGAAGAAA	0.393																																																	0													127.0	129.0	128.0					7																	76984923		2203	4300	6503	SO:0001583	missense	0				CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.1069C>A	7.37:g.76984923G>T	ENSP00000257626:p.Leu357Ile		A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	NULL	p.L357I	ENST00000257626.7	37	c.1069	CCDS34672.2	7	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666956	0.67814	.	.	ENSG00000186088	ENST00000257626	T	0.24350	1.86	5.87	3.7	0.42460	.	0.387158	0.22824	U	0.055193	T	0.45094	0.1325	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.30268	-0.9984	10	0.66056	D	0.02	.	6.3279	0.21255	0.3075:0.0:0.6925:0.0	.	357;357	A4D1B5-3;A4D1B5	.;GSAP_HUMAN	I	357	ENSP00000257626:L357I	ENSP00000257626:L357I	L	-	1	2	PION	76822859	0.988000	0.35896	0.913000	0.36048	0.912000	0.54170	0.988000	0.29616	0.519000	0.28406	0.655000	0.94253	CTA	GSAP	-	NULL	ENSG00000186088		0.393	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSAP	HGNC	protein_coding	OTTHUMT00000318672.2	-	0.00	65	0	G	NM_017439		76984923	-1	tier1	-	no_errors	ENST00000257626	ensembl	human	known	74_37	missense	5.62	84	5	SNP	0.996	T
H3F3B	3021	genome.wustl.edu	37	17	73774414	73774415	+	3'UTR	INS	-	-	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:73774414_73774415insA	ENST00000254810.4	-	0	804_805				H3F3B_ENST00000593254.1_5'UTR|H3F3B_ENST00000591890.1_3'UTR|H3F3B_ENST00000592643.1_3'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)			AACAAGTCATTAACATACAGAA	0.391																																																	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.*262->T	17.37:g.73774416_73774416dupA			P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	RNA	INS	-	NULL	ENST00000254810.4	37	NULL	CCDS11729.1	17																																																																																			H3F3B	-	-	ENSG00000132475		0.391	H3F3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H3F3B	HGNC	protein_coding	OTTHUMT00000448499.1		0.00	42	0	-	NM_005324		73774415	-1	tier1		no_errors	ENST00000593254	ensembl	human	known	74_37	rna	38.89	22	14	INS	1.000:1.000	A
HAS3	3038	genome.wustl.edu	37	16	69143446	69143446	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:69143446G>T	ENST00000306560.1	+	2	304	c.148G>T	c.(148-150)Gcc>Tcc	p.A50S	HAS3_ENST00000569188.1_Missense_Mutation_p.A50S|HAS3_ENST00000219322.3_Missense_Mutation_p.A50S	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	50					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CCTGTACGGCGCCATCCTGGG	0.642																																																	0													102.0	85.0	91.0					16																	69143446		2198	4300	6498	SO:0001583	missense	0			BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.148G>T	16.37:g.69143446G>T	ENSP00000304440:p.Ala50Ser		A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.A50S	ENST00000306560.1	37	c.148	CCDS10871.1	16	.	.	.	.	.	.	.	.	.	.	G	33	5.196919	0.94960	.	.	ENSG00000103044	ENST00000219322;ENST00000306560	T;T	0.49720	0.77;0.84	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.68081	0.2962	M	0.61703	1.905	0.80722	D	1	P;D	0.89917	0.953;1.0	B;D	0.91635	0.357;0.999	T	0.67787	-0.5580	10	0.54805	T	0.06	16.8517	19.1973	0.93695	0.0:0.0:1.0:0.0	.	50;50	O00219;O00219-2	HAS3_HUMAN;.	S	50	ENSP00000219322:A50S;ENSP00000304440:A50S	ENSP00000219322:A50S	A	+	1	0	HAS3	67700947	1.000000	0.71417	0.968000	0.41197	0.978000	0.69477	9.721000	0.98766	2.653000	0.90120	0.561000	0.74099	GCC	HAS3	-	NULL	ENSG00000103044		0.642	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS3	HGNC	protein_coding	OTTHUMT00000268898.2		0.00	19	0	G	NM_138612		69143446	+1			no_errors	ENST00000306560	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	T
HEATR5B	54497	genome.wustl.edu	37	2	37230810	37230810	+	Missense_Mutation	SNP	A	A	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:37230810A>T	ENST00000233099.5	-	31	5020	c.4925T>A	c.(4924-4926)cTg>cAg	p.L1642Q	HEATR5B_ENST00000354531.2_Missense_Mutation_p.L1642Q	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1642						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CAAAACACTCAGCAACTCAAC	0.348																																																	0													64.0	59.0	61.0					2																	37230810		2203	4300	6503	SO:0001583	missense	0			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.4925T>A	2.37:g.37230810A>T	ENSP00000233099:p.Leu1642Gln		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L1642Q	ENST00000233099.5	37	c.4925	CCDS33181.1	2	.	.	.	.	.	.	.	.	.	.	A	21.6	4.179018	0.78564	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.70516	-0.49;-0.49	5.51	5.51	0.81932	Armadillo-type fold (1);	0.080624	0.53938	D	0.000055	T	0.81361	0.4806	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.83060	-0.0148	10	0.72032	D	0.01	-3.0637	15.9209	0.79570	1.0:0.0:0.0:0.0	.	1642	Q9P2D3	HTR5B_HUMAN	Q	1642	ENSP00000233099:L1642Q;ENSP00000346531:L1642Q	ENSP00000233099:L1642Q	L	-	2	0	HEATR5B	37084314	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.447000	0.90332	2.210000	0.71456	0.533000	0.62120	CTG	HEATR5B	-	superfamily_ARM-type_fold	ENSG00000008869		0.348	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1	-	0.00	56	0	A	NM_019024		37230810	-1	tier1	-	no_errors	ENST00000233099	ensembl	human	known	74_37	missense	17.02	39	8	SNP	1.000	T
HDLBP	3069	genome.wustl.edu	37	2	242170310	242170310	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:242170310G>A	ENST00000391975.1	-	25	3565	c.3338C>T	c.(3337-3339)gCc>gTc	p.A1113V	HDLBP_ENST00000427183.2_Missense_Mutation_p.A1080V|HDLBP_ENST00000391976.2_Missense_Mutation_p.A1113V|HDLBP_ENST00000310931.4_Missense_Mutation_p.A1113V	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1113	KH 13. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		AGCATCCCTGGCAGCTTCTGT	0.527																																																	0													146.0	122.0	130.0					2																	242170310		2203	4300	6503	SO:0001583	missense	0				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.3338C>T	2.37:g.242170310G>A	ENSP00000375836:p.Ala1113Val		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.A1113V	ENST00000391975.1	37	c.3338	CCDS2547.1	2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131048	0.77549	.	.	ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.53	5.53	0.82687	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.096999	0.64402	D	0.000001	T	0.81004	0.4733	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.97110	0.952;1.0	D	0.85716	0.1322	10	0.87932	D	0	-40.2784	19.5332	0.95237	0.0:0.0:1.0:0.0	.	1080;1113	E7EM71;Q00341	.;VIGLN_HUMAN	V	1113;1113;1113;1080	ENSP00000375836:A1113V;ENSP00000375837:A1113V;ENSP00000312042:A1113V;ENSP00000399139:A1080V	ENSP00000312042:A1113V	A	-	2	0	HDLBP	241818983	1.000000	0.71417	0.976000	0.42696	0.026000	0.11368	9.611000	0.98342	2.617000	0.88574	0.650000	0.86243	GCC	HDLBP	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000115677		0.527	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	-	0.00	66	0	G	NM_203346		242170310	-1	tier1	-	no_errors	ENST00000310931	ensembl	human	known	74_37	missense	40.98	35	25	SNP	1.000	A
HEPH	9843	genome.wustl.edu	37	X	65428033	65428033	+	Silent	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chrX:65428033G>A	ENST00000343002.2	+	14	3172	c.2508G>A	c.(2506-2508)gtG>gtA	p.V836V	HEPH_ENST00000374727.3_Silent_p.V839V|HEPH_ENST00000336279.5_Silent_p.V569V|HEPH_ENST00000441993.2_Silent_p.V839V|HEPH_ENST00000519389.1_Silent_p.V890V|HEPH_ENST00000419594.1_Silent_p.V647V			Q9BQS7	HEPH_HUMAN	hephaestin	836	Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCTACTCTGTGCATGCTCATG	0.448																																																	0													99.0	72.0	81.0					X																	65428033		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2508G>A	X.37:g.65428033G>A			B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.V890	ENST00000343002.2	37	c.2670		X																																																																																			HEPH	-	superfamily_Cupredoxin	ENSG00000089472		0.448	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1	-	0.00	61	0	G	NM_138737		65428033	+1	tier1	-	no_errors	ENST00000519389	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.046	A
HERC3	8916	genome.wustl.edu	37	4	89576391	89576391	+	Nonsense_Mutation	SNP	G	G	T	rs370030897		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr4:89576391G>T	ENST00000402738.1	+	8	1083	c.844G>T	c.(844-846)Gag>Tag	p.E282*	HERC3_ENST00000264345.3_Nonsense_Mutation_p.E282*|HERC3_ENST00000407637.1_Nonsense_Mutation_p.E282*	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	282					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CATGAATGATGAGGTTAACCC	0.463																																																	0													250.0	224.0	233.0					4																	89576391		2203	4300	6503	SO:0001587	stop_gained	0			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.844G>T	4.37:g.89576391G>T	ENSP00000385684:p.Glu282*		A8K1S5|Q8IXX3	Nonsense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E282*	ENST00000402738.1	37	c.844	CCDS34028.1	4	.	.	.	.	.	.	.	.	.	.	G	38	7.160817	0.98103	.	.	ENSG00000138641	ENST00000402738;ENST00000407637;ENST00000264345	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	19.0221	0.92919	0.0:0.0:1.0:0.0	.	.	.	.	X	282	.	ENSP00000264345:E282X	E	+	1	0	HERC3	89795414	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	9.645000	0.98471	2.732000	0.93576	0.655000	0.94253	GAG	HERC3	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens	ENSG00000138641		0.463	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC3	HGNC	protein_coding	OTTHUMT00000318081.2		0.00	112	0	G	NM_014606		89576391	+1			no_errors	ENST00000264345	ensembl	human	known	74_37	nonsense	5.13	74	4	SNP	1.000	T
HM13	81502	genome.wustl.edu	37	20	30137095	30137095	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr20:30137095G>T	ENST00000340852.5	+	6	750	c.626G>T	c.(625-627)tGc>tTc	p.C209F	HM13_ENST00000376127.3_Intron|HM13_ENST00000492709.1_3'UTR|HM13_ENST00000398174.3_Missense_Mutation_p.C209F|HM13_ENST00000335574.5_Missense_Mutation_p.C209F	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	209					membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			AGCACTGGCTGCATCCTGCTG	0.562																																																	0													179.0	171.0	173.0					20																	30137095		2203	4300	6503	SO:0001583	missense	0			AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"""signal peptide peptidase beta"", ""presenilin-like protein 3"", ""intramembrane protease"", ""signal peptide peptidase like 1"""	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.626G>T	20.37:g.30137095G>T	ENSP00000343032:p.Cys209Phe		B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	Missense_Mutation	SNP	pfam_Peptidase_A22B_SPP,smart_Preselin/SPP	p.C209F	ENST00000340852.5	37	c.626	CCDS13182.1	20	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969235	0.53614	.	.	ENSG00000101294	ENST00000335574;ENST00000340852;ENST00000398174	T;T;T	0.16597	2.33;2.33;2.33	5.1	5.1	0.69264	.	0.084263	0.85682	D	0.000000	T	0.27205	0.0667	L	0.58428	1.81	0.80722	D	1	P;P;B	0.45531	0.726;0.86;0.057	P;P;B	0.48089	0.566;0.535;0.07	T	0.00807	-1.1558	10	0.27082	T	0.32	-34.4974	17.7521	0.88438	0.0:0.0:1.0:0.0	.	209;209;209	Q8TCT9;Q8TCT9-4;Q8TCT9-2	HM13_HUMAN;.;.	F	209	ENSP00000335294:C209F;ENSP00000343032:C209F;ENSP00000381237:C209F	ENSP00000335294:C209F	C	+	2	0	HM13	29600756	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.992000	0.93519	2.661000	0.90470	0.650000	0.86243	TGC	HM13	-	pfam_Peptidase_A22B_SPP,smart_Preselin/SPP	ENSG00000101294		0.562	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	HM13	HGNC	protein_coding	OTTHUMT00000078527.2	-	0.00	32	0	G	NM_178580		30137095	+1	tier1	-	no_errors	ENST00000398174	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T
HMCN1	83872	genome.wustl.edu	37	1	186030997	186030997	+	Missense_Mutation	SNP	C	C	T	rs376132541	byFrequency	TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:186030997C>T	ENST00000271588.4	+	47	7556	c.7327C>T	c.(7327-7329)Cgg>Tgg	p.R2443W	HMCN1_ENST00000367492.2_Missense_Mutation_p.R2443W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2443	Ig-like C2-type 22.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGGATGCTACGGCTGATGCA	0.398													C|||	2	0.000399361	0.0	0.0	5008	,	,		16462	0.0		0.0	False		,,,				2504	0.002																0								C	TRP/ARG	0,4406		0,0,2203	87.0	94.0	92.0		7327	4.4	0.3	1		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	HMCN1	NM_031935.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2443/5636	186030997	1,13005	2203	4300	6503	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7327C>T	1.37:g.186030997C>T	ENSP00000271588:p.Arg2443Trp		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.R2443W	ENST00000271588.4	37	c.7327	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274075	0.80580	0.0	1.16E-4	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.36520	1.25;1.25	5.39	4.42	0.53409	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53906	-0.8372	10	0.37606	T	0.19	.	14.5328	0.67939	0.1471:0.8529:0.0:0.0	.	2443	Q96RW7	HMCN1_HUMAN	W	2443	ENSP00000271588:R2443W;ENSP00000356462:R2443W	ENSP00000271588:R2443W	R	+	1	2	HMCN1	184297620	1.000000	0.71417	0.330000	0.25442	0.846000	0.48090	4.567000	0.60850	2.528000	0.85240	0.591000	0.81541	CGG	HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000143341		0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0.00	55	0	C	NM_031935		186030997	+1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	54.93	32	39	SNP	0.999	T
HOOK3	84376	genome.wustl.edu	37	8	42823327	42823327	+	Silent	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr8:42823327G>A	ENST00000307602.4	+	11	1292	c.1092G>A	c.(1090-1092)gcG>gcA	p.A364A		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	364					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CCAACGCAGCGCGAAGTCAAC	0.413			T	RET	papillary thyroid																																			Dom	yes		8	8p11.21	84376	hook homolog 3		E	0													73.0	70.0	71.0					8																	42823327		2203	4300	6503	SO:0001819	synonymous_variant	0			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1092G>A	8.37:g.42823327G>A			D3DSY8|Q8NBH0|Q9BY13	Silent	SNP	pfam_Hook-related_fam,superfamily_t-SNARE	p.A364	ENST00000307602.4	37	c.1092	CCDS6139.1	8																																																																																			HOOK3	-	pfam_Hook-related_fam	ENSG00000168172		0.413	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK3	HGNC	protein_coding	OTTHUMT00000383172.2		0.00	41	0	G	NM_032410		42823327	+1			no_errors	ENST00000307602	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.049	A
HRC	3270	genome.wustl.edu	37	19	49658061	49658061	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:49658061G>T	ENST00000252825.4	-	1	620	c.434C>A	c.(433-435)tCa>tAa	p.S145*	HRC_ENST00000595625.1_Nonsense_Mutation_p.S145*|TRPM4_ENST00000252826.5_5'Flank	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	145	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GTGCTCAGCTGAGTCTTCCGT	0.582																																					Melanoma(37;75 1097 24567 25669 30645)												0													189.0	135.0	153.0					19																	49658061		2203	4300	6503	SO:0001587	stop_gained	0				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.434C>A	19.37:g.49658061G>T	ENSP00000252825:p.Ser145*		Q504Y6	Nonsense_Mutation	SNP	pfam_Hist_rich_Ca-bd	p.S145*	ENST00000252825.4	37	c.434	CCDS12759.1	19	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196705	0.79015	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	.	.	.	2.45	1.41	0.22369	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0298	3.5347	0.07790	0.1579:0.2702:0.5719:0.0	.	.	.	.	X	145;115	.	ENSP00000252825:S145X	S	-	2	0	HRC	54349873	0.014000	0.17966	0.005000	0.12908	0.030000	0.12068	1.074000	0.30703	0.588000	0.29660	0.462000	0.41574	TCA	HRC	-	NULL	ENSG00000130528		0.582	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	HGNC	protein_coding	OTTHUMT00000465649.1		0.00	19	0	G	NM_002152		49658061	-1			no_errors	ENST00000252825	ensembl	human	known	74_37	nonsense	13.33	26	4	SNP	0.002	T
HS3ST4	9951	genome.wustl.edu	37	16	25703882	25703882	+	Silent	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:25703882G>A	ENST00000331351.5	+	1	536	c.144G>A	c.(142-144)ctG>ctA	p.L48L		NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	48					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TCACCTACCTGTGCTACAGCC	0.736																																																	0													7.0	8.0	8.0					16																	25703882		1267	2578	3845	SO:0001819	synonymous_variant	0			AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.144G>A	16.37:g.25703882G>A			Q5QI42|Q8NDC2	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.L48	ENST00000331351.5	37	c.144	CCDS53995.1	16																																																																																			HS3ST4	-	NULL	ENSG00000182601		0.736	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST4	HGNC	protein_coding	OTTHUMT00000133286.2	-	0.00	20	0	G	NM_006040		25703882	+1	tier1	-	no_errors	ENST00000331351	ensembl	human	known	74_37	silent	19.28	67	16	SNP	1.000	A
HSPA12A	259217	genome.wustl.edu	37	10	118439187	118439187	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:118439187G>T	ENST00000369209.3	-	10	1217	c.1113C>A	c.(1111-1113)ttC>ttA	p.F371L		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	371						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GTTTGATTTTGAATTGTTCAA	0.433																																																	0													93.0	92.0	92.0					10																	118439187		1811	4078	5889	SO:0001583	missense	0			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1113C>A	10.37:g.118439187G>T	ENSP00000358211:p.Phe371Leu			Missense_Mutation	SNP	NULL	p.F371L	ENST00000369209.3	37	c.1113	CCDS41569.1	10	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107360	0.77096	.	.	ENSG00000165868	ENST00000369209	T	0.25749	1.78	5.95	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.31734	0.0806	L	0.31804	0.96	0.53688	D	0.999974	D	0.76494	0.999	D	0.78314	0.991	T	0.05419	-1.0886	10	0.29301	T	0.29	.	6.6779	0.23103	0.3033:0.0:0.6967:0.0	.	371	O43301	HS12A_HUMAN	L	371	ENSP00000358211:F371L	ENSP00000358211:F371L	F	-	3	2	HSPA12A	118429177	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.589000	0.46145	1.534000	0.49203	0.655000	0.94253	TTC	HSPA12A	-	NULL	ENSG00000165868		0.433	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12A	HGNC	protein_coding	OTTHUMT00000050530.1		0.00	86	0	G	NM_025015		118439187	-1			no_errors	ENST00000369209	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	T
IL1R2	7850	genome.wustl.edu	37	2	102626039	102626039	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:102626039G>T	ENST00000332549.3	+	3	312	c.83G>T	c.(82-84)tGc>tTc	p.C28F	IL1R2_ENST00000393414.2_Missense_Mutation_p.C28F|IL1R2_ENST00000441002.1_Missense_Mutation_p.C28F	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	28	Ig-like C2-type 1.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						GCCAGAAGCTGCCGGTTTCGT	0.597																																					Pancreas(106;189 1628 2302 5133 12295)												0													88.0	92.0	90.0					2																	102626039		2203	4300	6503	SO:0001583	missense	0			X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.83G>T	2.37:g.102626039G>T	ENSP00000330959:p.Cys28Phe		D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ,prints_IL-1_rcpt_I/II-typ	p.C28F	ENST00000332549.3	37	c.83	CCDS2054.1	2	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779444	0.70107	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000457817;ENST00000441002	T;T;T;T	0.53423	1.14;1.14;0.62;1.36	5.8	5.8	0.92144	Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.72938	0.3523	M	0.85197	2.74	0.54753	D	0.999989	D	0.89917	1.0	D	0.87578	0.998	T	0.76631	-0.2888	10	0.87932	D	0	.	16.9705	0.86297	0.0:0.0:1.0:0.0	.	28	P27930	IL1R2_HUMAN	F	28	ENSP00000330959:C28F;ENSP00000377066:C28F;ENSP00000408415:C28F;ENSP00000414611:C28F	ENSP00000330959:C28F	C	+	2	0	IL1R2	101992471	0.999000	0.42202	0.453000	0.27007	0.045000	0.14185	5.227000	0.65305	2.758000	0.94735	0.561000	0.74099	TGC	IL1R2	-	pfscan_Ig-like_dom	ENSG00000115590		0.597	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1R2	HGNC	protein_coding	OTTHUMT00000253191.1		0.00	37	0	G	NM_004633		102626039	+1			no_errors	ENST00000332549	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.956	T
IL22RA2	116379	genome.wustl.edu	37	6	137468892	137468892	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:137468892G>T	ENST00000296980.2	-	6	909	c.609C>A	c.(607-609)taC>taA	p.Y203*	IL22RA2_ENST00000349184.4_Nonsense_Mutation_p.Y171*|IL22RA2_ENST00000339602.3_Intron	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	203	Fibronectin type-III 3.				cytokine-mediated signaling pathway (GO:0019221)|negative regulation of inflammatory response (GO:0050728)|regulation of tyrosine phosphorylation of Stat3 protein (GO:0042516)	cytosol (GO:0005829)|extracellular space (GO:0005615)	interleukin-22 binding (GO:0042017)|interleukin-22 receptor activity (GO:0042018)			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		TAAAAACTCGGTATAGTAGTT	0.274																																																	0													52.0	58.0	56.0					6																	137468892		2202	4295	6497	SO:0001587	stop_gained	0			AY044429	CCDS5182.1, CCDS5183.1, CCDS5184.1	6q24.1-q24.2	2008-02-05			ENSG00000164485	ENSG00000164485		"""Interleukins and interleukin receptors"""	14901	protein-coding gene	gene with protein product		606648				11481447, 11390454	Standard	NM_181309		Approved	CRF2-S1, IL-22BP	uc003qhl.3	Q969J5	OTTHUMG00000015655	ENST00000296980.2:c.609C>A	6.37:g.137468892G>T	ENSP00000296980:p.Tyr203*		Q08AH7|Q6UWM1|Q96A41|Q96QR0	Nonsense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3	p.Y203*	ENST00000296980.2	37	c.609	CCDS5182.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.337378	0.95758	.	.	ENSG00000164485	ENST00000349184;ENST00000296980	.	.	.	5.58	1.39	0.22231	.	0.220980	0.40064	N	0.001189	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3568	0.26723	0.4123:0.0:0.5877:0.0	.	.	.	.	X	171;203	.	ENSP00000296980:Y203X	Y	-	3	2	IL22RA2	137510585	0.275000	0.24201	0.976000	0.42696	0.535000	0.34838	-0.177000	0.09796	-0.039000	0.13602	0.655000	0.94253	TAC	IL22RA2	-	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3	ENSG00000164485		0.274	IL22RA2-002	KNOWN	basic|CCDS	protein_coding	IL22RA2	HGNC	protein_coding	OTTHUMT00000042399.1	-	0.00	30	0	G			137468892	-1	tier1	-	no_errors	ENST00000296980	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	0.991	T
IQCH	64799	genome.wustl.edu	37	15	67571788	67571788	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:67571788G>T	ENST00000335894.4	+	4	391	c.325G>T	c.(325-327)Ggt>Tgt	p.G109C	IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000512104.1_Missense_Mutation_p.G109C|IQCH_ENST00000358767.3_5'UTR	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	109										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GGAATCTGAGGGTACATTTTG	0.348																																																	0													53.0	51.0	52.0					15																	67571788		2201	4299	6500	SO:0001583	missense	0			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.325G>T	15.37:g.67571788G>T	ENSP00000336861:p.Gly109Cys		A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS	p.G109C	ENST00000335894.4	37	c.325	CCDS32273.1	15	.	.	.	.	.	.	.	.	.	.	G	15.55	2.865928	0.51588	.	.	ENSG00000103599	ENST00000512104;ENST00000335894;ENST00000535744	T	0.48522	0.81	4.89	1.86	0.25419	.	0.860622	0.10407	N	0.678378	T	0.36635	0.0974	L	0.44542	1.39	0.22842	N	0.998669	B;B	0.17038	0.02;0.02	B;B	0.17098	0.017;0.017	T	0.37103	-0.9720	10	0.66056	D	0.02	-5.1791	3.6154	0.08075	0.0932:0.167:0.5672:0.1727	.	109;109	Q86VS3;B4E2J4	IQCH_HUMAN;.	C	109	ENSP00000336861:G109C	ENSP00000336861:G109C	G	+	1	0	IQCH	65358842	0.388000	0.25197	0.931000	0.37212	0.964000	0.63967	0.617000	0.24359	0.177000	0.19895	-0.169000	0.13324	GGT	IQCH	-	NULL	ENSG00000103599		0.348	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCH	HGNC	protein_coding	OTTHUMT00000256969.1	-	0.00	94	0	G	NM_022784		67571788	+1	tier1	-	no_errors	ENST00000335894	ensembl	human	known	74_37	missense	5.04	113	6	SNP	0.368	T
IRF4	3662	genome.wustl.edu	37	6	394896	394896	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:394896C>T	ENST00000380956.4	+	3	418	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	98					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GACGCGCCTGCGGTGCGCTTT	0.542			T	IGH@	MM																																			Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	0													89.0	94.0	92.0					6																	394896		2203	4300	6503	SO:0001583	missense	0			U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.292C>T	6.37:g.394896C>T	ENSP00000370343:p.Arg98Trp		Q5VUI7|Q99660	Missense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.R98W	ENST00000380956.4	37	c.292	CCDS4469.1	6	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657012	0.47467	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.98617	-5.03	5.81	3.95	0.45737	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.049999	0.85682	D	0.000000	D	0.99275	0.9747	H	0.95004	3.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99035	1.0822	10	0.87932	D	0	-16.3511	14.6661	0.68910	0.4209:0.5791:0.0:0.0	.	98;98;98	F2Z3D5;Q15306-2;Q15306	.;.;IRF4_HUMAN	W	98;128	ENSP00000370343:R98W	ENSP00000370343:R98W	R	+	1	2	IRF4	339896	0.947000	0.32204	0.015000	0.15790	0.009000	0.06853	1.835000	0.39181	0.711000	0.32018	-0.284000	0.09977	CGG	IRF4	-	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	ENSG00000137265		0.542	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF4	HGNC	protein_coding	OTTHUMT00000043638.1	-	0.00	71	0	C			394896	+1	tier1	-	no_errors	ENST00000380956	ensembl	human	known	74_37	missense	33.33	22	11	SNP	0.988	T
JDP2	122953	genome.wustl.edu	37	14	75899033	75899033	+	Intron	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr14:75899033G>T	ENST00000435893.2	+	1	250				JDP2_ENST00000419727.2_Intron|JDP2_ENST00000559773.1_Intron|JDP2_ENST00000437176.1_Intron|JDP2_ENST00000267569.5_Missense_Mutation_p.V2L	NM_001135047.1|NM_130469.3	NP_001128519.1|NP_569736.1	Q8WYK2	JDP2_HUMAN	Jun dimerization protein 2						negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone deacetylation (GO:0031065)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0296)	Pseudoephedrine(DB00852)	AAGATTCATGGTAGCAGGTAC	0.547																																																	0													215.0	208.0	211.0					14																	75899033		692	1591	2283	SO:0001627	intron_variant	0			AF111167	CCDS9842.1, CCDS45139.1	14q24.2	2013-01-10		2008-04-10				"""basic leucine zipper proteins"""	17546	protein-coding gene	gene with protein product	"""progesterone receptor co-activator"""	608657				12052888, 9154808, 17545590	Standard	NM_130469		Approved	JUNDM2	uc001xrq.3	Q8WYK2		ENST00000435893.2:c.-24+3724G>T	14.37:g.75899033G>T			J3KN58|O95430|Q9UIE4	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.V2L	ENST00000435893.2	37	c.4	CCDS9842.1	14	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362727	0.24684	.	.	ENSG00000140044	ENST00000267569	T	0.56941	0.43	3.71	0.142	0.14816	.	.	.	.	.	T	0.41811	0.1175	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34104	-0.9842	6	0.37606	T	0.19	.	5.7323	0.18047	0.568:0.0:0.432:0.0	.	.	.	.	L	2	ENSP00000267569:V2L	ENSP00000267569:V2L	V	+	1	0	JDP2	74968786	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	0.009000	0.13219	0.011000	0.14865	-0.345000	0.07892	GTA	JDP2	-	NULL	ENSG00000140044		0.547	JDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JDP2	HGNC	protein_coding	OTTHUMT00000415505.1	-	0.00	68	0	G	NM_130469		75899033	+1	tier1	-	no_errors	ENST00000267569	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.001	T
KCNJ2	3759	genome.wustl.edu	37	17	68171512	68171512	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:68171512G>T	ENST00000243457.3	+	2	715	c.332G>T	c.(331-333)gGg>gTg	p.G111V	KCNJ2_ENST00000535240.1_Missense_Mutation_p.G111V	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	111					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CTGCTCCATGGGGACCTGGAT	0.532																																																	0													158.0	151.0	153.0					17																	68171512		2203	4300	6503	SO:0001583	missense	0			AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.332G>T	17.37:g.68171512G>T	ENSP00000243457:p.Gly111Val		O15110|P48049	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.1	p.G111V	ENST00000243457.3	37	c.332	CCDS11688.1	17	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172940	0.57584	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.95885	-3.84;-3.84	5.66	5.66	0.87406	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.046270	0.85682	D	0.000000	D	0.98422	0.9475	H	0.96861	3.895	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.99087	1.0839	9	.	.	.	.	13.0018	0.58681	0.0735:0.0:0.9265:0.0	.	111	P63252	IRK2_HUMAN	V	111	ENSP00000441848:G111V;ENSP00000243457:G111V	.	G	+	2	0	KCNJ2	65683107	1.000000	0.71417	0.974000	0.42286	0.945000	0.59286	8.061000	0.89467	2.662000	0.90505	0.555000	0.69702	GGG	KCNJ2	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir	ENSG00000123700		0.532	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNJ2	HGNC	protein_coding	OTTHUMT00000450889.1	-	0.00	65	0	G	NM_000891		68171512	+1	tier1	-	no_errors	ENST00000243457	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T
KCNN3	3782	genome.wustl.edu	37	1	154842333	154842333	+	Silent	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:154842333C>T	ENST00000271915.4	-	1	423	c.108G>A	c.(106-108)caG>caA	p.Q36Q	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	36	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	gctgctgttgctgctgctgct	0.672																																																	0													8.0	8.0	8.0					1																	154842333		1967	3874	5841	SO:0001819	synonymous_variant	0			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.108G>A	1.37:g.154842333C>T			B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.Q36	ENST00000271915.4	37	c.108	CCDS30880.1	1																																																																																			KCNN3	-	NULL	ENSG00000143603		0.672	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	HGNC	protein_coding	OTTHUMT00000090688.3		0.00	59	0	C	NM_002249		154842333	-1			no_errors	ENST00000271915	ensembl	human	novel	74_37	silent	7.14	65	5	SNP	0.823	T
KCNQ5	56479	genome.wustl.edu	37	6	73900333	73900333	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:73900333G>T	ENST00000370398.1	+	12	1724	c.1615G>T	c.(1615-1617)Gaa>Taa	p.E539*	KCNQ5_ENST00000342056.2_Nonsense_Mutation_p.E558*|KCNQ5_ENST00000402622.2_Nonsense_Mutation_p.E549*|KCNQ5_ENST00000403813.2_Nonsense_Mutation_p.E530*|KCNQ5_ENST00000355635.3_Nonsense_Mutation_p.E540*|KCNQ5_ENST00000355194.4_Nonsense_Mutation_p.E539*|KCNQ5_ENST00000414165.2_Nonsense_Mutation_p.E429*	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	539					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GAAGTTTAAGGAAACATTACG	0.303																																					GBM(142;1375 1859 14391 23261 44706)												0													85.0	75.0	78.0					6																	73900333		2203	4300	6503	SO:0001587	stop_gained	0			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1615G>T	6.37:g.73900333G>T	ENSP00000359425:p.Glu539*		A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Nonsense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.E549*	ENST00000370398.1	37	c.1645	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	G	41	8.970129	0.99021	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.3416	0.90307	0.0:0.0:1.0:0.0	.	.	.	.	X	558;558;539;539;549;540;530;429	.	ENSP00000345055:E558X	E	+	1	0	KCNQ5	73957054	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	9.864000	0.99589	2.301000	0.77427	0.643000	0.83706	GAA	KCNQ5	-	pfam_K_chnl_volt-dep_KCNQ_C	ENSG00000185760		0.303	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	-	0.00	74	0	G	NM_019842		73900333	+1	tier1	-	no_errors	ENST00000402622	ensembl	human	known	74_37	nonsense	5.32	89	5	SNP	1.000	T
KCTD9	54793	genome.wustl.edu	37	8	25297192	25297192	+	Intron	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr8:25297192G>T	ENST00000221200.4	-	5	532				KCTD9_ENST00000518067.1_5'UTR	NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9						protein homooligomerization (GO:0051260)					breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		TAAGAATTCAGGGAAAAAAAT	0.363																																																	0													71.0	69.0	70.0					8																	25297192		2203	4300	6503	SO:0001627	intron_variant	0			BC021216	CCDS6048.1	8p21.1	2013-06-20	2013-06-20		ENSG00000104756	ENSG00000104756		"""BTB/POZ domain containing"""	22401	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 9"""			11483580	Standard	NM_017634		Approved	FLJ20038, BTBD27	uc003xeo.3	Q7L273	OTTHUMG00000099428	ENST00000221200.4:c.312-12C>A	8.37:g.25297192G>T			Q6NUM8|Q9NXV4	RNA	SNP	-	NULL	ENST00000221200.4	37	NULL	CCDS6048.1	8																																																																																			KCTD9	-	-	ENSG00000104756		0.363	KCTD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD9	HGNC	protein_coding	OTTHUMT00000216890.1	-	0.00	86	0	G	NM_017634		25297192	-1	tier1	-	no_errors	ENST00000518067	ensembl	human	known	74_37	rna	6.56	55	4	SNP	1.000	T
KDM3A	55818	genome.wustl.edu	37	2	86712884	86712884	+	Missense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:86712884C>A	ENST00000409556.1	+	22	3580	c.3215C>A	c.(3214-3216)cCc>cAc	p.P1072H	KDM3A_ENST00000409064.1_Missense_Mutation_p.P1072H|KDM3A_ENST00000542128.1_Missense_Mutation_p.P1020H|KDM3A_ENST00000312912.5_Missense_Mutation_p.P1072H			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1072	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						ATTCCACTGCCCGAGTACACA	0.433																																					NSCLC(96;1150 1523 6936 46253 49736)												0													133.0	120.0	125.0					2																	86712884		2203	4300	6503	SO:0001583	missense	0			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.3215C>A	2.37:g.86712884C>A	ENSP00000386660:p.Pro1072His		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.P1072H	ENST00000409556.1	37	c.3215	CCDS1990.1	2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661507	0.88154	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.73	5.73	0.89815	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.92322	0.7564	L	0.53729	1.69	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.973	D	0.92174	0.5746	10	0.66056	D	0.02	.	19.248	0.93909	0.0:1.0:0.0:0.0	.	1020;1072	F5H070;Q9Y4C1	.;KDM3A_HUMAN	H	1072;1072;1072;1072;1020	ENSP00000386660:P1072H;ENSP00000323659:P1072H;ENSP00000386516:P1072H;ENSP00000438324:P1020H	ENSP00000323659:P1072H	P	+	2	0	KDM3A	86566395	1.000000	0.71417	0.903000	0.35520	0.759000	0.43091	7.776000	0.85560	2.861000	0.98227	0.655000	0.94253	CCC	KDM3A	-	smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000115548		0.433	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	HGNC	protein_coding	OTTHUMT00000252522.2		0.00	37	0	C	NM_018433		86712884	+1			no_errors	ENST00000312912	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	A
KDM4B	23030	genome.wustl.edu	37	19	5144037	5144037	+	Silent	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:5144037C>A	ENST00000159111.4	+	19	2828	c.2610C>A	c.(2608-2610)tcC>tcA	p.S870S	KDM4B_ENST00000536461.1_Silent_p.S904S	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	870					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TCCAGTGCTCCTACGAGCACT	0.632																																																	0													91.0	82.0	85.0					19																	5144037		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2610C>A	19.37:g.5144037C>A			B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.S870	ENST00000159111.4	37	c.2610	CCDS12138.1	19																																																																																			KDM4B	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD	ENSG00000127663		0.632	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1		0.00	41	0	C	NM_015015		5144037	+1			no_errors	ENST00000159111	ensembl	human	known	74_37	silent	8.16	45	4	SNP	0.974	A
KIF12	113220	genome.wustl.edu	37	9	116857592	116857592	+	Silent	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:116857592G>A	ENST00000374118.3	-	7	739	c.502C>T	c.(502-504)Ctg>Ttg	p.L168L	KIF12_ENST00000473174.1_5'UTR	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	301	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						TGTGGGTCCAGCAGCAGGGAG	0.607																																																	0													41.0	34.0	37.0					9																	116857592		2203	4300	6503	SO:0001819	synonymous_variant	0			BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"""Kinesins"""	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.502C>T	9.37:g.116857592G>A			Q5TBE0	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L168	ENST00000374118.3	37	c.502	CCDS6801.1	9																																																																																			KIF12	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom	ENSG00000136883		0.607	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF12	HGNC	protein_coding	OTTHUMT00000053751.1		0.00	18	0	G	NM_138424		116857592	-1			no_errors	ENST00000374118	ensembl	human	known	74_37	silent	20.00	8	2	SNP	1.000	A
KNDC1	85442	genome.wustl.edu	37	10	135027545	135027545	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:135027545G>T	ENST00000304613.3	+	26	4617	c.4596G>T	c.(4594-4596)aaG>aaT	p.K1532N	KNDC1_ENST00000368572.2_Missense_Mutation_p.K1534N			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1532	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TTCAGGACAAGTATCTGTTAC	0.522																																																	0													133.0	119.0	123.0					10																	135027545		2203	4300	6503	SO:0001583	missense	0			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.4596G>T	10.37:g.135027545G>T	ENSP00000304437:p.Lys1532Asn		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.K1534N	ENST00000304613.3	37	c.4602	CCDS7674.1	10	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902344	0.52227	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.30182	1.54;1.54	4.22	2.33	0.28932	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	1.264260	0.05838	N	0.618806	T	0.16257	0.0391	N	0.08118	0	0.36122	D	0.845543	B	0.34264	0.446	B	0.30105	0.111	T	0.07809	-1.0753	10	0.30854	T	0.27	-9.1004	8.2586	0.31771	0.2026:0.0:0.7974:0.0	.	1532	Q76NI1	VKIND_HUMAN	N	1532;1534	ENSP00000304437:K1532N;ENSP00000357561:K1534N	ENSP00000304437:K1532N	K	+	3	2	KNDC1	134877535	0.525000	0.26290	0.980000	0.43619	0.848000	0.48234	-0.026000	0.12392	0.364000	0.24374	0.313000	0.20887	AAG	KNDC1	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000171798		0.522	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	HGNC	protein_coding	OTTHUMT00000277044.3	-	0.00	74	0	G	NM_152643		135027545	+1	tier1	-	no_errors	ENST00000368572	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T
KRT6C	286887	genome.wustl.edu	37	12	52862909	52862909	+	Silent	SNP	G	G	A	rs535062636	byFrequency	TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:52862909G>A	ENST00000252250.6	-	9	1679	c.1632C>T	c.(1630-1632)ggC>ggT	p.G544G		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	544	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TGGAACTGCCGCCTCCAACAG	0.587													G|||	4	0.000798722	0.0008	0.0	5008	,	,		20866	0.0		0.001	False		,,,				2504	0.002																0													92.0	90.0	90.0					12																	52862909		2203	4297	6500	SO:0001819	synonymous_variant	0			L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1632C>T	12.37:g.52862909G>A			A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.G544	ENST00000252250.6	37	c.1632	CCDS8829.1	12																																																																																			KRT6C	-	NULL	ENSG00000170465		0.587	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6C	HGNC	protein_coding	OTTHUMT00000404976.1	-	0.00	64	0	G	NM_173086		52862909	-1	tier1	-	no_errors	ENST00000252250	ensembl	human	known	74_37	silent	44.19	48	38	SNP	0.997	A
KRTAP19-4	337971	genome.wustl.edu	37	21	31869393	31869393	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr21:31869393G>T	ENST00000334058.2	-	1	58	c.36C>A	c.(34-36)ggC>ggA	p.G12G		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	12						intermediate filament (GO:0005882)				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CACAGCCATAGCCCAGGCCTC	0.552																																																	0													115.0	119.0	118.0					21																	31869393		2203	4300	6503	SO:0001819	synonymous_variant	0			AP001708	CCDS33534.1	21q22.1	2011-02-10			ENSG00000186967	ENSG00000186967		"""Keratin associated proteins"""	18939	protein-coding gene	gene with protein product						12359730	Standard	NM_181610		Approved	KAP19.4	uc011acz.2	Q3LI73	OTTHUMG00000057767	ENST00000334058.2:c.36C>A	21.37:g.31869393G>T			Q17RT4|Q17RT6	Silent	SNP	pfam_KRTAP_type6/8/16/19/20	p.G12	ENST00000334058.2	37	c.36	CCDS33534.1	21																																																																																			KRTAP19-4	-	pfam_KRTAP_type6/8/16/19/20	ENSG00000186967		0.552	KRTAP19-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP19-4	HGNC	protein_coding	OTTHUMT00000128219.2	-	0.00	80	0	G			31869393	-1	tier1	-	no_errors	ENST00000334058	ensembl	human	known	74_37	silent	72.00	14	36	SNP	0.855	T
KRTAP19-8	728299	genome.wustl.edu	37	21	32410730	32410730	+	Silent	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr21:32410730C>A	ENST00000382822.2	-	1	65	c.33G>T	c.(31-33)ctG>ctT	p.L11L		NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN	keratin associated protein 19-8	11						intermediate filament (GO:0005882)				endometrium(2)|upper_aerodigestive_tract(1)	3						AGCCATAGCCCAGGCCTCCAT	0.537																																																	0													120.0	135.0	130.0					21																	32410730		2203	4300	6503	SO:0001819	synonymous_variant	0			AB096964	CCDS42917.1	21q22.11	2007-11-23			ENSG00000206102	ENSG00000206102		"""Keratin associated proteins"""	33898	protein-coding gene	gene with protein product							Standard	NM_001099219		Approved		uc010glt.3	Q3LI54	OTTHUMG00000057787	ENST00000382822.2:c.33G>T	21.37:g.32410730C>A				Silent	SNP	pfam_KRTAP_type6/8/16/19/20	p.L11	ENST00000382822.2	37	c.33	CCDS42917.1	21																																																																																			KRTAP19-8	-	pfam_KRTAP_type6/8/16/19/20	ENSG00000206102		0.537	KRTAP19-8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	KRTAP19-8	HGNC	protein_coding	OTTHUMT00000128239.3	-	0.00	95	0	C	NM_001099219		32410730	-1	tier1	-	no_errors	ENST00000382822	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.994	A
KSR2	283455	genome.wustl.edu	37	12	118298113	118298113	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:118298113G>T	ENST00000339824.5	-	2	1031	c.304C>A	c.(304-306)Cgc>Agc	p.R102S	KSR2_ENST00000425217.1_Missense_Mutation_p.R73S			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	102					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCTCCTTGCGCACATCGACG	0.637																																																	0													59.0	63.0	62.0					12																	118298113		1568	3582	5150	SO:0001583	missense	0			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.304C>A	12.37:g.118298113G>T	ENSP00000339952:p.Arg102Ser		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.R102S	ENST00000339824.5	37	c.304		12	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240973	0.39598	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	T;T	0.76968	-1.05;-1.06	4.54	4.54	0.55810	.	.	.	.	.	T	0.77003	0.4067	N	0.16368	0.405	0.37729	D	0.925214	D	0.63880	0.993	P	0.62298	0.9	T	0.77245	-0.2659	9	0.27785	T	0.31	.	16.5648	0.84576	0.0:0.0:1.0:0.0	.	102	Q6VAB6	KSR2_HUMAN	S	73;102	ENSP00000389715:R73S;ENSP00000339952:R102S	ENSP00000339952:R102S	R	-	1	0	KSR2	116782496	1.000000	0.71417	0.997000	0.53966	0.723000	0.41478	5.967000	0.70403	2.514000	0.84764	0.313000	0.20887	CGC	KSR2	-	NULL	ENSG00000171435		0.637	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	HGNC	protein_coding	OTTHUMT00000401987.2		0.00	32	0	G	NM_173598		118298113	-1			no_errors	ENST00000339824	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T
L1CAM	3897	genome.wustl.edu	37	X	153134317	153134317	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chrX:153134317G>A	ENST00000370060.1	-	12	1547	c.1358C>T	c.(1357-1359)gCg>gTg	p.A453V	L1CAM_ENST00000361699.4_Missense_Mutation_p.A453V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A455V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A448V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A453V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A448V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A455V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	453	Ig-like C2-type 5.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCACAGGCGCTCCGAAGGC	0.632																																																	0													185.0	142.0	157.0					X																	153134317		2203	4300	6503	SO:0001583	missense	0			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1358C>T	X.37:g.153134317G>A	ENSP00000359077:p.Ala453Val		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	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.A455V	ENST00000370060.1	37	c.1364	CCDS14733.1	X	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928939	0.34002	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.67	4.62	0.57501	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.427868	0.21665	N	0.070954	T	0.53514	0.1801	N	0.17312	0.475	0.32004	N	0.602981	P;P;P	0.52692	0.911;0.955;0.928	B;P;B	0.46320	0.255;0.512;0.284	T	0.63782	-0.6559	10	0.56958	D	0.05	.	10.1228	0.42632	0.1632:0.0:0.8368:0.0	.	448;453;453	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	V	453;455;453;455;448;448;453	ENSP00000359077:A453V;ENSP00000438430:A455V;ENSP00000359074:A453V;ENSP00000439645:A455V;ENSP00000354712:A448V;ENSP00000359072:A448V;ENSP00000355380:A453V	ENSP00000355380:A453V	A	-	2	0	L1CAM	152787511	0.996000	0.38824	0.698000	0.30274	0.479000	0.33129	4.855000	0.62925	2.398000	0.81561	0.529000	0.55759	GCG	L1CAM	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000198910		0.632	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	-	0.00	36	0	G	NM_024003		153134317	-1	tier1	-	no_errors	ENST00000543994	ensembl	human	known	74_37	missense	94.44	2	34	SNP	0.417	A
LAMA1	284217	genome.wustl.edu	37	18	6993683	6993683	+	Silent	SNP	T	T	C			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr18:6993683T>C	ENST00000389658.3	-	35	5058	c.4965A>G	c.(4963-4965)caA>caG	p.Q1655Q		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1655	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TGGCCAGGTCTTGACTCTCCT	0.453																																																	0													203.0	182.0	189.0					18																	6993683		2203	4300	6503	SO:0001819	synonymous_variant	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.4965A>G	18.37:g.6993683T>C				Silent	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.Q1655	ENST00000389658.3	37	c.4965	CCDS32787.1	18																																																																																			LAMA1	-	pfam_Laminin_I	ENSG00000101680		0.453	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1		0.00	14	0	T	NM_005559		6993683	-1			no_errors	ENST00000389658	ensembl	human	known	74_37	silent	58.33	5	7	SNP	0.000	C
LAX1	54900	genome.wustl.edu	37	1	203740495	203740495	+	Splice_Site	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:203740495G>T	ENST00000442561.2	+	3	590	c.200G>T	c.(199-201)cGa>cTa	p.R67L	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Splice_Site_p.R51L	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	67					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCCTTGCAGGACAAGTTCCT	0.512																																																	0													222.0	214.0	217.0					1																	203740495		2203	4300	6503	SO:0001630	splice_region_variant	0			AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"""LAT-like membrane associated protein"", ""linker for activation of x cells"""					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.200-1G>T	1.37:g.203740495G>T			B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Missense_Mutation	SNP	NULL	p.R67L	ENST00000442561.2	37	c.200	CCDS1441.2	1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687531	0.68157	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	5.7	1.11	0.20524	.	1.007230	0.07982	N	0.985741	T	0.43545	0.1252	L	0.55481	1.735	0.80722	D	1	P;P	0.36535	0.557;0.557	B;B	0.36766	0.232;0.232	T	0.40136	-0.9579	8	.	.	.	.	2.8588	0.05580	0.3497:0.0:0.4525:0.1978	.	51;67	B7Z744;Q8IWV1	.;LAX1_HUMAN	L	67;51	.	.	R	+	2	0	LAX1	202007118	0.762000	0.28451	0.192000	0.23308	0.325000	0.28411	0.869000	0.27996	0.317000	0.23160	0.655000	0.94253	CGA	LAX1	-	NULL	ENSG00000122188		0.512	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAX1	HGNC	protein_coding	OTTHUMT00000087468.3		0.00	86	0	G	NM_017773	Missense_Mutation	203740495	+1			no_errors	ENST00000442561	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.171	T
LIMCH1	22998	genome.wustl.edu	37	4	41648508	41648509	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr4:41648508_41648509delGA	ENST00000313860.7	+	12	1317_1318	c.1263_1264delGA	c.(1261-1266)cggagafs	p.RR421fs	LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	421					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.E810fs*3(1)|p.E425fs*3(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTAGAGAGCGGAGAGAGAGAGA	0.465																																																	2	Deletion - Frameshift(2)	ovary(2)																																								SO:0001589	frameshift_variant	0			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1263_1264delGA	4.37:g.41648518_41648519delGA	ENSP00000316891:p.Arg421fs		A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Frame_Shift_Del	DEL	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E810fs	ENST00000313860.7	37	c.2418_2419	CCDS33977.1	4																																																																																			LIMCH1	-	NULL	ENSG00000064042		0.465	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LIMCH1	HGNC	protein_coding	OTTHUMT00000361249.2		0.00	46	0	GA	NM_014988		41648509	+1	tier1		no_errors	ENST00000503057	ensembl	human	known	74_37	frame_shift_del	14.29	12	2	DEL	0.997:1.000	-
LEF1	51176	genome.wustl.edu	37	4	109086341	109086341	+	Intron	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr4:109086341C>T	ENST00000265165.1	-	2	868				LEF1_ENST00000510624.1_Intron|LEF1_ENST00000438313.2_Intron|LEF1-AS1_ENST00000436413.1_RNA|LEF1_ENST00000512172.1_Intron|LEF1_ENST00000379951.2_Intron	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1						alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		AATCCCCACACCCAAAAGAAA	0.468																																																	0													175.0	148.0	157.0					4																	109086341		2203	4300	6503	SO:0001627	intron_variant	0				CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.214-22G>A	4.37:g.109086341C>T			B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	RNA	SNP	-	NULL	ENST00000265165.1	37	NULL	CCDS3679.1	4																																																																																			LEF1	-	-	ENSG00000138795		0.468	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEF1	HGNC	protein_coding	OTTHUMT00000254749.2	-	0.00	73	0	C			109086341	-1	tier1	-	no_errors	ENST00000509428	ensembl	human	known	74_37	rna	53.19	22	25	SNP	0.858	T
LNX2	222484	genome.wustl.edu	37	13	28141833	28141833	+	Silent	SNP	G	G	T	rs555322411		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr13:28141833G>T	ENST00000316334.3	-	4	928	c.799C>A	c.(799-801)Cgg>Agg	p.R267R		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	267	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		ACCCCATCCCGATAGACCTCC	0.428																																																	0													118.0	106.0	110.0					13																	28141833		2203	4300	6503	SO:0001819	synonymous_variant	0			AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.799C>A	13.37:g.28141833G>T			Q5W0P0|Q6ZMH2|Q96SH4	Silent	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.R267	ENST00000316334.3	37	c.799	CCDS9323.1	13																																																																																			LNX2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000139517		0.428	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX2	HGNC	protein_coding	OTTHUMT00000044302.2	-	0.00	85	0	G			28141833	-1	tier1	-	no_errors	ENST00000316334	ensembl	human	known	74_37	silent	6.25	60	4	SNP	1.000	T
RP11-435B5.5	0	genome.wustl.edu	37	1	143378350	143378350	+	lincRNA	SNP	A	A	C			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:143378350A>C	ENST00000428624.1	+	0	1070				RP11-435B5.4_ENST00000423249.1_lincRNA|RP11-435B5.3_ENST00000430699.1_lincRNA																							TGCTGCTATAAGTAAGCACAG	0.368																																																	0																																												0																															1.37:g.143378350A>C				RNA	SNP	-	NULL	ENST00000428624.1	37	NULL		1																																																																																			RP11-435B5.5	-	-	ENSG00000238261		0.368	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	LOC101927345	Clone_based_vega_gene	lincRNA	OTTHUMT00000037971.1	-	0.00	35	0	A			143378350	+1	tier1	-	no_errors	ENST00000428624	ensembl	human	known	74_37	rna	37.04	17	10	SNP	0.001	C
ZNF529	57711	genome.wustl.edu	37	19	37064222	37064222	+	5'Flank	SNP	A	A	C			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:37064222A>C	ENST00000591340.1	-	0	0				ZNF529_ENST00000334116.7_5'Flank|AC092295.7_ENST00000475219.2_RNA|AC092295.7_ENST00000592880.2_RNA|AC092295.7_ENST00000448373.2_RNA	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529						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)	1	Esophageal squamous(110;0.198)					CAAAGGTCGAAGTTCATCCGC	0.642																																																	0																																										SO:0001631	upstream_gene_variant	0			AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"""Zinc fingers, C2H2-type"", ""-"""	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714		19.37:g.37064222A>C	Exception_encountered		K7EKE1|Q9H731|Q9HCF7	RNA	SNP	-	NULL	ENST00000591340.1	37	NULL	CCDS54256.1	19																																																																																			AC092295.7	-	-	ENSG00000233527		0.642	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101927599	Clone_based_vega_gene	protein_coding	OTTHUMT00000452730.1	-	0.00	95	0	A	NM_020951		37064222	+1	tier1	-	no_errors	ENST00000475219	ensembl	human	known	74_37	rna	28.57	55	22	SNP	0.017	C
SLIT3	6586	genome.wustl.edu	37	5	168135166	168135166	+	Intron	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:168135166C>A	ENST00000519560.1	-	26	3139				SLIT3_ENST00000332966.8_Intron|CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000404867.3_Intron|CTC-558O2.1_ENST00000521870.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCATACCTCCCTTCCCCTCTG	0.612																																					Ovarian(29;311 847 10864 17279 24903)												0																																										SO:0001627	intron_variant	0			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2720-61G>T	5.37:g.168135166C>A			A6H8U9|J3KNP3|O95804|Q9UFH5	RNA	SNP	-	NULL	ENST00000519560.1	37	NULL	CCDS4369.1	5																																																																																			CTC-558O2.1	-	-	ENSG00000254042		0.612	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101927969	Clone_based_vega_gene	protein_coding	OTTHUMT00000252792.4	-	0.00	21	0	C	NM_003062		168135166	+1	tier1	-	no_errors	ENST00000522615	ensembl	human	known	74_37	rna	25.00	12	4	SNP	0.003	A
LOC100287934	100287934	genome.wustl.edu	37	1	721313	721313	+	lincRNA	SNP	A	A	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:721313A>T	ENST00000591702.1	+	0	134																											GTGCTTCAAAATTTTTTATGA	0.408																																																	0																																												0																															1.37:g.721313A>T				RNA	SNP	-	NULL	ENST00000591702.1	37	NULL		1																																																																																			RP11-206L10.9	-	-	ENSG00000237491		0.408	RP11-206L10.9-020	KNOWN	basic	lincRNA	LOC101930657	Clone_based_vega_gene	lincRNA	OTTHUMT00000459872.1	-	0.00	49	0	A			721313	+1	tier1	-	no_errors	ENST00000591702	ensembl	human	known	74_37	rna	53.12	15	17	SNP	0.003	T
LONP2	83752	genome.wustl.edu	37	16	48368268	48368268	+	Splice_Site	SNP	A	A	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:48368268A>T	ENST00000285737.4	+	12	2030	c.1937A>T	c.(1936-1938)gAg>gTg	p.E646V	LONP2_ENST00000535754.1_Splice_Site_p.E602V	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TATGAAATGGAGGTGATTCAT	0.478																																																	0													132.0	127.0	129.0					16																	48368268		2200	4300	6500	SO:0001630	splice_region_variant	0			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1938+1A>T	16.37:g.48368268A>T				Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ	p.E646V	ENST00000285737.4	37	c.1937	CCDS10734.1	16	.	.	.	.	.	.	.	.	.	.	A	25.0	4.591345	0.86851	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	T;T	0.36157	1.27;1.27	6.06	6.06	0.98353	Peptidase S16, Lon C-terminal (1);	0.048148	0.85682	D	0.000000	T	0.67515	0.2901	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74191	-0.3745	10	0.87932	D	0	-20.0133	16.6093	0.84858	1.0:0.0:0.0:0.0	.	602;646	B7ZKL7;Q86WA8	.;LONP2_HUMAN	V	646;375;602;602	ENSP00000285737:E646V;ENSP00000445426:E602V	ENSP00000285737:E646V	E	+	2	0	LONP2	46925769	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.174000	0.77620	2.324000	0.78689	0.533000	0.62120	GAG	LONP2	-	pfam_Pept_S16_C,tigrfam_Lon_bac/euk-typ	ENSG00000102910		0.478	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP2	HGNC	protein_coding	OTTHUMT00000256839.2	-	0.00	30	0	A	NM_031490	Missense_Mutation	48368268	+1	tier1	-	no_errors	ENST00000285737	ensembl	human	known	74_37	missense	58.82	7	10	SNP	1.000	T
LRFN5	145581	genome.wustl.edu	37	14	42355887	42355887	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr14:42355887G>T	ENST00000298119.4	+	3	1248	c.59G>T	c.(58-60)tGt>tTt	p.C20F	LRFN5_ENST00000554120.1_Missense_Mutation_p.C20F|LRFN5_ENST00000554171.1_Missense_Mutation_p.C20F	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	20	LRRNT.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCTCAGATCTGTCCAAAGCGT	0.383										HNSCC(30;0.082)																																							0													86.0	79.0	81.0					14																	42355887		2203	4300	6503	SO:0001583	missense	0			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.59G>T	14.37:g.42355887G>T	ENSP00000298119:p.Cys20Phe		B3KU78|Q86XL2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.C20F	ENST00000298119.4	37	c.59	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199773	0.58126	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.62941	-0.01;0.02;0.01	5.56	5.56	0.83823	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.64402	D	0.000007	T	0.80121	0.4565	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.82279	-0.0536	10	0.87932	D	0	.	17.0193	0.86429	0.0:0.0:1.0:0.0	.	20;20	G3V364;Q96NI6	.;LRFN5_HUMAN	F	20	ENSP00000298119:C20F;ENSP00000451897:C20F;ENSP00000451067:C20F	ENSP00000298119:C20F	C	+	2	0	LRFN5	41425637	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.595000	0.87683	0.650000	0.86243	TGT	LRFN5	-	NULL	ENSG00000165379		0.383	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1	-	0.00	52	0	G	NM_152447		42355887	+1	tier1	-	no_errors	ENST00000298119	ensembl	human	known	74_37	missense	47.83	24	22	SNP	1.000	T
LRP1	4035	genome.wustl.edu	37	12	57571246	57571246	+	Silent	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:57571246C>A	ENST00000243077.3	+	26	4699	c.4233C>A	c.(4231-4233)ccC>ccA	p.P1411P		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1411					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCAGCCTGCCCCGCATTGAGG	0.682																																																	0													37.0	40.0	39.0					12																	57571246		2203	4300	6503	SO:0001819	synonymous_variant	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4233C>A	12.37:g.57571246C>A			Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.P1411	ENST00000243077.3	37	c.4233	CCDS8932.1	12																																																																																			LRP1	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000123384		0.682	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	-	0.00	35	0	C	NM_002332		57571246	+1	tier1	-	no_errors	ENST00000243077	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.998	A
LRP1	4035	genome.wustl.edu	37	12	57573298	57573298	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:57573298C>T	ENST00000243077.3	+	29	5391	c.4925C>T	c.(4924-4926)gCc>gTc	p.A1642V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1642					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATCAAGCGGGCCTTCATCAAC	0.622																																																	0													121.0	86.0	97.0					12																	57573298		2203	4300	6503	SO:0001583	missense	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4925C>T	12.37:g.57573298C>T	ENSP00000243077:p.Ala1642Val		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.A1642V	ENST00000243077.3	37	c.4925	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.269418	0.95429	.	.	ENSG00000123384	ENST00000243077	D	0.90444	-2.67	4.5	4.5	0.54988	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000003	D	0.93887	0.8044	L	0.56396	1.775	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.93345	0.6713	10	0.42905	T	0.14	.	16.4748	0.84129	0.0:1.0:0.0:0.0	.	1642	Q07954	LRP1_HUMAN	V	1642	ENSP00000243077:A1642V	ENSP00000243077:A1642V	A	+	2	0	LRP1	55859565	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.546000	0.82137	2.480000	0.83734	0.655000	0.94253	GCC	LRP1	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000123384		0.622	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2		0.00	40	0	C	NM_002332		57573298	+1			no_errors	ENST00000243077	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T
LRP2	4036	genome.wustl.edu	37	2	169985205	169985205	+	Missense_Mutation	SNP	C	C	T	rs202210831		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:169985205C>T	ENST00000263816.3	-	79	14221	c.13936G>A	c.(13936-13938)Gca>Aca	p.A4646T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4646					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.A4646T(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACAAGATTTGCGGTGTCTTTA	0.398																																																	1	Substitution - Missense(1)	lung(1)											146.0	149.0	148.0					2																	169985205		2203	4300	6503	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13936G>A	2.37:g.169985205C>T	ENSP00000263816:p.Ala4646Thr		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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.A4646T	ENST00000263816.3	37	c.13936	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915722	0.92178	.	.	ENSG00000081479	ENST00000263816	D	0.91237	-2.81	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.92648	0.7664	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92649	0.6131	10	0.51188	T	0.08	.	20.2245	0.98337	0.0:1.0:0.0:0.0	.	4646	P98164	LRP2_HUMAN	T	4646	ENSP00000263816:A4646T	ENSP00000263816:A4646T	A	-	1	0	LRP2	169693451	1.000000	0.71417	0.153000	0.22517	0.676000	0.39594	7.428000	0.80296	2.770000	0.95276	0.650000	0.86243	GCA	LRP2	-	NULL	ENSG00000081479		0.398	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2		0.00	45	0	C	NM_004525		169985205	-1			no_errors	ENST00000263816	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T
LRP2BP	55805	genome.wustl.edu	37	4	186295346	186295346	+	Missense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr4:186295346C>A	ENST00000328559.7	-	5	1333	c.522G>T	c.(520-522)aaG>aaT	p.K174N	LRP2BP_ENST00000510776.1_Missense_Mutation_p.K148N|LRP2BP_ENST00000505916.1_Missense_Mutation_p.K174N|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000362004.3_Missense_Mutation_p.K176N	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	174						cytoplasm (GO:0005737)				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TACTTTGAGCCTTCACACTAG	0.413																																																	0													162.0	154.0	157.0					4																	186295346		2203	4300	6503	SO:0001583	missense	0			AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.522G>T	4.37:g.186295346C>A	ENSP00000332681:p.Lys174Asn		A6NJR7|A7E219|B3KX83|Q9NSN6	Missense_Mutation	SNP	pfam_Sel1-like,pfam_TPR_2,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K176N	ENST00000328559.7	37	c.528	CCDS3840.1	4	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988654	0.53934	.	.	ENSG00000109771	ENST00000362004;ENST00000328559;ENST00000510776;ENST00000505916	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.2	2.49	0.30216	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.58409	0.2120	M	0.61703	1.905	0.54753	D	0.999988	D;D	0.89917	0.999;1.0	D;D	0.91635	0.976;0.999	T	0.57057	-0.7876	10	0.09590	T	0.72	-20.7757	11.1728	0.48582	0.0:0.7874:0.0:0.2126	.	148;174	G5E9Z9;Q9P2M1	.;LR2BP_HUMAN	N	176;174;148;174	ENSP00000354846:K176N;ENSP00000332681:K174N;ENSP00000424610:K148N;ENSP00000426203:K174N	ENSP00000332681:K174N	K	-	3	2	LRP2BP	186532340	1.000000	0.71417	1.000000	0.80357	0.451000	0.32288	1.992000	0.40737	0.687000	0.31509	0.563000	0.77884	AAG	LRP2BP	-	pfam_Sel1-like,smart_Sel1-like	ENSG00000109771		0.413	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRP2BP	HGNC	protein_coding	OTTHUMT00000360679.2	-	0.00	67	0	C	NM_018409		186295346	-1	tier1	-	no_errors	ENST00000362004	ensembl	human	known	74_37	missense	60.78	20	31	SNP	1.000	A
LRP4	4038	genome.wustl.edu	37	11	46898787	46898787	+	Missense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:46898787C>A	ENST00000378623.1	-	23	3482	c.3240G>T	c.(3238-3240)atG>atT	p.M1080I	LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1080					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGGTGTTCTTCATGGTAATGT	0.493																																																	0													251.0	186.0	208.0					11																	46898787		2201	4299	6500	SO:0001583	missense	0			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3240G>T	11.37:g.46898787C>A	ENSP00000367888:p.Met1080Ile		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_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_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.M1080I	ENST00000378623.1	37	c.3240	CCDS31478.1	11	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163407	0.57476	.	.	ENSG00000134569	ENST00000378623	D	0.90732	-2.72	6.17	6.17	0.99709	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.83031	0.5166	N	0.13043	0.29	0.80722	D	1	B	0.15141	0.012	B	0.15870	0.014	T	0.77403	-0.2601	10	0.07175	T	0.84	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1080	O75096	LRP4_HUMAN	I	1080	ENSP00000367888:M1080I	ENSP00000367888:M1080I	M	-	3	0	LRP4	46855363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.481000	0.81124	2.941000	0.99782	0.655000	0.94253	ATG	LRP4	-	smart_LDLR_classB_rpt	ENSG00000134569		0.493	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1	-	0.00	66	0	C	NM_002334		46898787	-1	tier1	-	no_errors	ENST00000378623	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	A
LRPPRC	10128	genome.wustl.edu	37	2	44170940	44170940	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:44170940G>A	ENST00000260665.7	-	23	2447	c.2390C>T	c.(2389-2391)gCt>gTt	p.A797V		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	797					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACCTCTTAAAGCTGCGCCATT	0.398																																																	0													153.0	148.0	150.0					2																	44170940		2203	4300	6503	SO:0001583	missense	0			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2390C>T	2.37:g.44170940G>A	ENSP00000260665:p.Ala797Val		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.A797V	ENST00000260665.7	37	c.2390	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665759	0.88251	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.62498	0.02	6.06	6.06	0.98353	.	0.110840	0.64402	D	0.000013	T	0.80576	0.4649	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.78086	-0.2341	10	0.45353	T	0.12	-10.4715	20.6397	0.99537	0.0:0.0:1.0:0.0	.	697;797	F5H4J6;P42704	.;LPPRC_HUMAN	V	697;797	ENSP00000260665:A797V	ENSP00000260665:A797V	A	-	2	0	LRPPRC	44024444	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	8.834000	0.92094	2.880000	0.98712	0.650000	0.86243	GCT	LRPPRC	-	NULL	ENSG00000138095		0.398	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	-	0.00	80	0	G	NM_133259		44170940	-1	tier1	-	no_errors	ENST00000260665	ensembl	human	known	74_37	missense	21.28	74	20	SNP	1.000	A
LRRC38	126755	genome.wustl.edu	37	1	13839512	13839513	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:13839512_13839513delCA	ENST00000376085.3	-	1	1030_1031	c.576_577delTG	c.(574-579)tgtgacfs	p.CD192fs	RP4-597A16.2_ENST00000563570.1_RNA	NM_001010847.1	NP_001010847.1	Q5VT99	LRC38_HUMAN	leucine rich repeat containing 38	192	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TGGGCGAAGTCACAGTCGCACA	0.688																																																	0																																										SO:0001589	frameshift_variant	0			BC016048	CCDS53269.1	1p36.21	2008-02-05			ENSG00000162494	ENSG00000162494			27005	protein-coding gene	gene with protein product		615212				12477932	Standard	NM_001010847		Approved		uc001avb.3	Q5VT99	OTTHUMG00000007918	ENST00000376085.3:c.576_577delTG	1.37:g.13839514_13839515delCA	ENSP00000365253:p.Cys192fs		Q96B32	Frame_Shift_Del	DEL	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.C192fs	ENST00000376085.3	37	c.577_576	CCDS53269.1	1																																																																																			LRRC38	-	smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	ENSG00000162494		0.688	LRRC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC38	HGNC	protein_coding	OTTHUMT00000021793.1		0.00	31	0	CA			13839513	-1	tier1		no_errors	ENST00000376085	ensembl	human	known	74_37	frame_shift_del	25.00	12	4	DEL	0.999:0.978	-
LRRC42	115353	genome.wustl.edu	37	1	54427698	54427698	+	Intron	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:54427698G>T	ENST00000371370.3	+	6	1245				LRRC42_ENST00000477905.1_3'UTR|LRRC42_ENST00000319223.4_Intron	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42											breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						CGTTGTTTTTGACATCTAGGT	0.373																																																	0													121.0	116.0	118.0					1																	54427698		2203	4300	6503	SO:0001627	intron_variant	0			AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.725-9G>T	1.37:g.54427698G>T			D3DQ46|Q8N2Q8	RNA	SNP	-	NULL	ENST00000371370.3	37	NULL	CCDS585.1	1																																																																																			LRRC42	-	-	ENSG00000116212		0.373	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRC42	HGNC	protein_coding	OTTHUMT00000023250.1	-	0.00	42	0	G	NM_052940		54427698	+1	tier1	-	no_errors	ENST00000477905	ensembl	human	known	74_37	rna	5.26	72	4	SNP	0.988	T
LRRC8A	56262	genome.wustl.edu	37	9	131670745	131670745	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:131670745G>T	ENST00000259324.5	+	3	1825	c.1302G>T	c.(1300-1302)atG>atT	p.M434I	LRRC8A_ENST00000372599.3_Missense_Mutation_p.M434I|LRRC8A_ENST00000372600.4_Missense_Mutation_p.M434I	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	434					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						ACCTGTTCATGCTCAGTGGCA	0.617																																																	0													36.0	34.0	35.0					9																	131670745		2203	4300	6503	SO:0001583	missense	0			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1302G>T	9.37:g.131670745G>T	ENSP00000259324:p.Met434Ile		Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.M434I	ENST00000259324.5	37	c.1302	CCDS35155.1	9	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582284	0.65992	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.19394	2.15;2.15;2.15	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.47764	0.1463	M	0.74258	2.255	0.80722	D	1	D	0.61080	0.989	D	0.68483	0.958	T	0.45542	-0.9254	10	0.56958	D	0.05	.	18.1064	0.89521	0.0:0.0:1.0:0.0	.	434	Q8IWT6	LRC8A_HUMAN	I	434	ENSP00000361682:M434I;ENSP00000361680:M434I;ENSP00000259324:M434I	ENSP00000259324:M434I	M	+	3	0	LRRC8A	130710566	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.595000	0.87683	0.561000	0.74099	ATG	LRRC8A	-	NULL	ENSG00000136802		0.617	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	HGNC	protein_coding	OTTHUMT00000054516.2		0.00	11	0	G	NM_019594		131670745	+1			no_errors	ENST00000259324	ensembl	human	known	74_37	missense	25.00	12	4	SNP	1.000	T
LRRTM4	80059	genome.wustl.edu	37	2	77746589	77746589	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:77746589G>A	ENST00000409093.1	-	3	742	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	LRRTM4_ENST00000409911.1_Missense_Mutation_p.R137C|LRRTM4_ENST00000409282.1_Missense_Mutation_p.R137C|LRRTM4_ENST00000409884.1_Missense_Mutation_p.R136C|LRRTM4_ENST00000409088.3_Missense_Mutation_p.R136C			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	136					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TCCAGATTGCGGAGATTGGGA	0.383																																																	0													106.0	96.0	99.0					2																	77746589		1845	4087	5932	SO:0001583	missense	0			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.406C>T	2.37:g.77746589G>A	ENSP00000386357:p.Arg136Cys		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R137C	ENST00000409093.1	37	c.409	CCDS46346.1	2	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811145	0.50527	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.05319	3.46;3.46;3.46;3.46;3.46	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.33000	0.0848	M	0.92604	3.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.24657	-1.0154	10	0.87932	D	0	.	13.3218	0.60436	0.0:0.0:0.8419:0.1581	.	137;136;136	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	C	137;136;136;136;137	ENSP00000387228:R137C;ENSP00000387297:R136C;ENSP00000386357:R136C;ENSP00000386236:R136C;ENSP00000386286:R137C	ENSP00000386236:R136C	R	-	1	0	LRRTM4	77600097	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.599000	0.74127	2.674000	0.91012	0.655000	0.94253	CGC	LRRTM4	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000176204		0.383	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRTM4	HGNC	protein_coding	OTTHUMT00000328225.1	-	0.00	96	0	G	NM_024993		77746589	-1	tier1	-	no_errors	ENST00000409911	ensembl	human	known	74_37	missense	56.52	30	39	SNP	1.000	A
MACF1	23499	genome.wustl.edu	37	1	39893243	39893243	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:39893243G>T	ENST00000372915.3	+	61	16535	c.16448G>T	c.(16447-16449)gGc>gTc	p.G5483V	MACF1_ENST00000539005.1_Missense_Mutation_p.G3395V|MACF1_ENST00000545844.1_Missense_Mutation_p.G3416V|MACF1_ENST00000317713.7_Missense_Mutation_p.G3416V|MACF1_ENST00000361689.2_Missense_Mutation_p.G3416V|MACF1_ENST00000564288.1_Missense_Mutation_p.G5478V|MACF1_ENST00000289893.4_Missense_Mutation_p.G3918V|MACF1_ENST00000567887.1_Missense_Mutation_p.G5515V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5483					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAACCTGTTGGCACTCAGACT	0.423																																																	0													106.0	110.0	108.0					1																	39893243		2203	4300	6503	SO:0001583	missense	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16448G>T	1.37:g.39893243G>T	ENSP00000362006:p.Gly5483Val		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.G3416V	ENST00000372915.3	37	c.10247		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.1|26.1	4.703636|4.703636	0.88924|0.88924	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000482035|ENST00000372925	T;T;T;T;T;T;T|.	0.56776|.	0.99;0.99;0.99;0.99;0.99;0.99;0.44|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|.	0.64402|.	D|.	0.000014|.	T|T	0.77778|0.77778	0.4181|0.4181	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;0.998|.	T|T	0.76372|0.76372	-0.2983|-0.2983	10|5	0.66056|.	D|.	0.02|.	.|.	19.8304|19.8304	0.96632|0.96632	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	5483;3416;3360|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	V|C	3416;5483;3416;3416;3395;3918;232|2528	ENSP00000439537:G3416V;ENSP00000362006:G5483V;ENSP00000354573:G3416V;ENSP00000313438:G3416V;ENSP00000444364:G3395V;ENSP00000289893:G3918V;ENSP00000433104:G232V|.	ENSP00000289893:G3918V|.	G|W	+|+	2|3	0|0	MACF1|MACF1	39665830|39665830	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.692000|2.692000	0.91855|0.91855	0.557000|0.557000	0.71058|0.71058	GGC|TGG	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000127603		0.423	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1		0.00	59	0	G	NM_033044		39893243	+1			no_errors	ENST00000317713	ensembl	human	known	74_37	missense	5.36	52	3	SNP	1.000	T
MACROD2	140733	genome.wustl.edu	37	20	15967782	15967782	+	Missense_Mutation	SNP	G	G	C			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr20:15967782G>C	ENST00000310348.4	+	15	1132	c.1132G>C	c.(1132-1134)Gaa>Caa	p.E378Q	MACROD2_ENST00000407045.3_Missense_Mutation_p.E29Q|MACROD2_ENST00000378058.3_Missense_Mutation_p.E143Q|MACROD2_ENST00000217246.4_Missense_Mutation_p.E378Q|MACROD2_ENST00000402914.1_Missense_Mutation_p.E143Q			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	378	Glu-rich.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AGAGGACCAAGAAGAAAAAGA	0.388																																																	0													117.0	114.0	115.0					20																	15967782		2203	4300	6503	SO:0001583	missense	0			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.1132G>C	20.37:g.15967782G>C	ENSP00000309809:p.Glu378Gln		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom	p.E378Q	ENST00000310348.4	37	c.1132	CCDS13120.2	20	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430375	0.43122	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058;ENST00000407045	T;T;T;T	0.55588	1.97;1.96;0.51;0.51	5.57	4.62	0.57501	.	0.127302	0.36066	N	0.002817	T	0.59582	0.2204	L	0.50333	1.59	0.24784	N	0.992792	D;P;P	0.61080	0.989;0.745;0.739	P;B;B	0.55923	0.787;0.224;0.398	T	0.55528	-0.8127	10	0.66056	D	0.02	-10.261	11.8854	0.52600	0.0829:0.0:0.9171:0.0	.	29;378;378	A1Z1Q3-6;A1Z1Q3;A1Z1Q3-2	.;MACD2_HUMAN;.	Q	378;378;143;143;29	ENSP00000217246:E378Q;ENSP00000309809:E378Q;ENSP00000385290:E143Q;ENSP00000367297:E143Q	ENSP00000217246:E378Q	E	+	1	0	MACROD2	15915782	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	2.749000	0.47492	1.354000	0.45846	0.591000	0.81541	GAA	MACROD2	-	NULL	ENSG00000172264		0.388	MACROD2-201	KNOWN	basic|CCDS	protein_coding	MACROD2	HGNC	protein_coding		-	0.00	38	0	G	NM_080676		15967782	+1	tier1	-	no_errors	ENST00000310348	ensembl	human	known	74_37	missense	20.00	24	6	SNP	1.000	C
MAP4	4134	genome.wustl.edu	37	3	47933289	47933289	+	Intron	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:47933289G>T	ENST00000360240.6	-	9	2518				MAP4_ENST00000426837.2_Intron|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000264724.11_Intron|MAP4_ENST00000441748.2_5'Flank|MAP4_ENST00000420772.2_Silent_p.S231S	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4						cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	CCAGGAGTGGGGACTCACACT	0.532																																																	0																																										SO:0001627	intron_variant	0				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.2000-14276C>A	3.37:g.47933289G>T			Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Silent	SNP	pfam_MAP_tubulin-bd_rpt	p.S231	ENST00000360240.6	37	c.693	CCDS33750.1	3																																																																																			MAP4	-	NULL	ENSG00000047849		0.532	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	HGNC	protein_coding	OTTHUMT00000346085.1	-	0.00	44	0	G	NM_002375		47933289	-1	tier1	-	no_errors	ENST00000420772	ensembl	human	known	74_37	silent	11.76	45	6	SNP	0.002	T
MAPKAP1	79109	genome.wustl.edu	37	9	128347888	128347888	+	Missense_Mutation	SNP	A	A	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:128347888A>G	ENST00000373498.1	-	4	685	c.617T>C	c.(616-618)cTg>cCg	p.L206P	MAPKAP1_ENST00000373503.3_Missense_Mutation_p.L14P|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.L206P|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.L14P|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.L206P|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.L206P|MAPKAP1_ENST00000265960.3_Missense_Mutation_p.L206P|MAPKAP1_ENST00000373497.5_Missense_Mutation_p.L14P			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	206	Interaction with NBN.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						GAGCCCGATCAGGTCCTGCAC	0.542																																																	0													163.0	121.0	135.0					9																	128347888		2203	4300	6503	SO:0001583	missense	0			M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.617T>C	9.37:g.128347888A>G	ENSP00000362597:p.Leu206Pro		A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	pfam_SIN1	p.L206P	ENST00000373498.1	37	c.617	CCDS35140.1	9	.	.	.	.	.	.	.	.	.	.	A	23.1	4.369015	0.82463	.	.	ENSG00000119487	ENST00000373511;ENST00000350766;ENST00000373503;ENST00000373498;ENST00000265960;ENST00000394063;ENST00000373505;ENST00000373497;ENST00000420643;ENST00000394060;ENST00000427078;ENST00000468896	.	.	.	5.86	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.78349	0.4269	M	0.80422	2.495	0.48762	D	0.999703	D;D;D;D;D;D	0.89917	0.997;1.0;1.0;0.999;1.0;0.999	D;D;D;D;D;D	0.91635	0.995;0.999;0.999;0.983;0.992;0.987	T	0.79685	-0.1700	9	0.62326	D	0.03	-9.2171	11.2102	0.48793	0.9285:0.0:0.0715:0.0	.	14;206;206;206;206;206	B7Z5E5;Q9BPZ7-6;Q9BPZ7-5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.;.;.;.;.;SIN1_HUMAN	P	206;206;14;206;206;14;208;14;14;206;14;107	.	ENSP00000265960:L206P	L	-	2	0	MAPKAP1	127387709	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.450000	0.80656	1.040000	0.40099	0.533000	0.62120	CTG	MAPKAP1	-	pfam_SIN1	ENSG00000119487		0.542	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	MAPKAP1	HGNC	protein_coding	OTTHUMT00000054092.1		0.00	46	0	A			128347888	-1			no_errors	ENST00000265960	ensembl	human	known	74_37	missense	5.33	70	4	SNP	1.000	G
MARCH10	162333	genome.wustl.edu	37	17	60813487	60813487	+	Nonsense_Mutation	SNP	G	G	C			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:60813487G>C	ENST00000311269.5	-	6	2016	c.1742C>G	c.(1741-1743)tCa>tGa	p.S581*	RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000544856.2_Nonsense_Mutation_p.S580*|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Nonsense_Mutation_p.S581*|MARCH10_ENST00000583600.1_Nonsense_Mutation_p.S619*	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	581	Poly-Ser.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GTTCATTCTTGATGGAGAGGA	0.423																																																	0													95.0	95.0	95.0					17																	60813487		2203	4300	6503	SO:0001587	stop_gained	0			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.1742C>G	17.37:g.60813487G>C	ENSP00000311496:p.Ser581*		D3DU09|Q8IYS7|Q8N7Z7	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.S581*	ENST00000311269.5	37	c.1742	CCDS11635.1	17	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471697	0.84533	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	.	.	.	5.37	4.38	0.52667	.	1.174740	0.06144	N	0.672930	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-0.3171	10.5341	0.44994	0.0939:0.0:0.9061:0.0	.	.	.	.	X	581;581;580	.	ENSP00000311496:S581X	S	-	2	0	MARCH10	58167219	0.015000	0.18098	0.011000	0.14972	0.037000	0.13140	1.939000	0.40213	2.676000	0.91093	0.561000	0.74099	TCA	MARCH10	-	NULL	ENSG00000173838		0.423	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MARCH10	HGNC	protein_coding	OTTHUMT00000445252.1		0.00	49	0	G	NM_152598		60813487	-1			no_errors	ENST00000311269	ensembl	human	known	74_37	nonsense	10.34	26	3	SNP	0.008	C
MARCH8	220972	genome.wustl.edu	37	10	45953829	45953829	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:45953829C>T	ENST00000319836.3	-	7	1483	c.734G>A	c.(733-735)aGc>aAc	p.S245N	MARCH8_ENST00000395769.2_Missense_Mutation_p.S245N|MARCH8_ENST00000453424.2_Missense_Mutation_p.S527N|MARCH8_ENST00000395771.3_Missense_Mutation_p.S245N|MARCH8_ENST00000476962.1_5'UTR	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	245					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						ATTCTTTTTGCTTGTTTCTGG	0.348																																					NSCLC(102;658 1594 2173 16344 34808)												0													140.0	146.0	144.0					10																	45953829		2203	4300	6503	SO:0001583	missense	0			AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	23356	protein-coding gene	gene with protein product		613335	"""c-mir, cellular modulator of immune recognition"", ""membrane-associated ring finger (C3HC4) 8"""	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.734G>A	10.37:g.45953829C>T	ENSP00000317087:p.Ser245Asn		B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING	p.S245N	ENST00000319836.3	37	c.734	CCDS7213.1	10	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092272	0.55968	.	.	ENSG00000165406	ENST00000395771;ENST00000319836;ENST00000395769	T;T;T	0.12465	2.68;2.68;2.68	5.67	4.75	0.60458	.	0.110385	0.64402	D	0.000007	T	0.11537	0.0281	L	0.34521	1.04	0.34071	D	0.658493	B;P	0.43826	0.437;0.818	B;B	0.40565	0.096;0.333	T	0.22312	-1.0220	10	0.19590	T	0.45	-15.435	13.6506	0.62308	0.1558:0.8442:0.0:0.0	.	245;409	Q5T0T0;Q5JQ16	MARH8_HUMAN;.	N	245	ENSP00000379118:S245N;ENSP00000317087:S245N;ENSP00000379116:S245N	ENSP00000317087:S245N	S	-	2	0	MARCH8	45273835	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.508000	0.67006	1.359000	0.45940	0.655000	0.94253	AGC	MARCH8	-	NULL	ENSG00000165406		0.348	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH8	HGNC	protein_coding	OTTHUMT00000051217.1	-	0.00	95	0	C	NM_145021		45953829	-1	tier1	-	no_errors	ENST00000319836	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
MBL2	4153	genome.wustl.edu	37	10	54529049	54529049	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:54529049C>A	ENST00000373968.3	-	3	395	c.331G>T	c.(331-333)Gaa>Taa	p.E111*		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	111					acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GCTTTTCTTTCTGAGGCAGCC	0.408																																																	0													124.0	130.0	128.0					10																	54529049		2202	4300	6502	SO:0001587	stop_gained	0			AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"""Collectins"""	6922	protein-coding gene	gene with protein product		154545	"""mannose-binding lectin (protein C) 2, soluble (opsonic defect)"""	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.331G>T	10.37:g.54529049C>A	ENSP00000363079:p.Glu111*		Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Nonsense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.E111*	ENST00000373968.3	37	c.331	CCDS7247.1	10	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086842	0.55861	.	.	ENSG00000165471	ENST00000373968	.	.	.	4.32	2.46	0.29980	.	0.432373	0.21865	N	0.067976	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-7.2338	6.6176	0.22786	0.0:0.7869:0.0:0.2131	.	.	.	.	X	111	.	ENSP00000363079:E111X	E	-	1	0	MBL2	54199055	0.089000	0.21612	0.015000	0.15790	0.020000	0.10135	1.521000	0.35910	0.756000	0.33013	0.655000	0.94253	GAA	MBL2	-	NULL	ENSG00000165471		0.408	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBL2	HGNC	protein_coding	OTTHUMT00000048115.1		0.00	49	0	C	NM_000242		54529049	-1			no_errors	ENST00000373968	ensembl	human	known	74_37	nonsense	8.00	46	4	SNP	0.021	A
MC2R	4158	genome.wustl.edu	37	18	13885085	13885085	+	Missense_Mutation	SNP	G	G	A	rs139218324		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr18:13885085G>A	ENST00000327606.3	-	2	613	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	145					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ACAGTGCGGCGCATGGTCACG	0.577																																					Colon(141;1584 1782 35999 48227 48692)												0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	117.0	93.0	101.0		433	4.3	1.0	18	dbSNP_134	101	0,8600		0,0,4300	no	missense	MC2R	NM_000529.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	145/298	13885085	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.433C>T	18.37:g.13885085G>A	ENSP00000333821:p.Arg145Cys		A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ACTH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn	p.R145C	ENST00000327606.3	37	c.433	CCDS11869.1	18	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714107	0.68730	2.27E-4	0.0	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.43294	0.95	5.28	4.32	0.51571	GPCR, rhodopsin-like superfamily (1);	0.334548	0.31809	N	0.007026	T	0.59115	0.2170	M	0.72894	2.215	0.46678	D	0.999151	D	0.76494	0.999	P	0.62740	0.906	T	0.62651	-0.6809	10	0.62326	D	0.03	.	12.8208	0.57692	0.0:0.0:0.6872:0.3128	.	145	Q01718	ACTHR_HUMAN	C	145	ENSP00000333821:R145C	ENSP00000333821:R145C	R	-	1	0	MC2R	13875085	0.936000	0.31750	0.999000	0.59377	0.872000	0.50106	2.317000	0.43770	2.469000	0.83416	0.655000	0.94253	CGC	MC2R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000185231		0.577	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC2R	HGNC	protein_coding	OTTHUMT00000254639.2	-	0.00	33	0	G			13885085	-1	tier1	rs139218324	no_errors	ENST00000327606	ensembl	human	known	74_37	missense	32.26	21	10	SNP	0.998	A
MCM5	4174	genome.wustl.edu	37	22	35820214	35820214	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr22:35820214G>T	ENST00000216122.4	+	17	2325	c.2171G>T	c.(2170-2172)cGc>cTc	p.R724L	MCM5_ENST00000382011.5_Missense_Mutation_p.R681L	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	724					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						ATCCAGCATCGCATGCAGCGC	0.647																																																	0													39.0	31.0	34.0					22																	35820214		2146	4172	6318	SO:0001583	missense	0				CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.2171G>T	22.37:g.35820214G>T	ENSP00000216122:p.Arg724Leu		O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM5,prints_MCM_DNA-dep_ATPase	p.R724L	ENST00000216122.4	37	c.2171	CCDS13915.1	22	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315666	0.81469	.	.	ENSG00000100297	ENST00000216122;ENST00000382011	T;T	0.04049	4.06;3.72	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.15869	0.0382	M	0.87180	2.865	0.80722	D	1	P;P;P	0.50369	0.885;0.934;0.885	P;P;P	0.47346	0.544;0.544;0.544	T	0.06023	-1.0850	10	0.56958	D	0.05	-19.2195	17.438	0.87558	0.0:0.0:1.0:0.0	.	724;681;724	B1AHB0;B1AHB1;P33992	.;.;MCM5_HUMAN	L	724;681	ENSP00000216122:R724L;ENSP00000371441:R681L	ENSP00000216122:R724L	R	+	2	0	MCM5	34150214	1.000000	0.71417	0.964000	0.40570	0.477000	0.33069	8.531000	0.90610	2.337000	0.79520	0.462000	0.41574	CGC	MCM5	-	NULL	ENSG00000100297		0.647	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM5	HGNC	protein_coding	OTTHUMT00000320661.3	-	0.00	39	0	G			35820214	+1	tier1	-	no_errors	ENST00000216122	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T
MED12	9968	genome.wustl.edu	37	X	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	GCA	GCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chrX:70360680_70360682delGCA	ENST00000374080.3	+	42	6272_6274	c.6240_6242delGCA	c.(6238-6243)cggcag>cgg	p.Q2086del	MED12_ENST00000333646.6_In_Frame_Del_p.Q2089del|MED12_ENST00000374102.1_In_Frame_Del_p.Q2085del|AL590764.1_ENST00000579622.1_RNA			Q93074	MED12_HUMAN	mediator complex subunit 12	2086	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					accacatccggcagcagcagcag	0.586			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0																																										SO:0001651	inframe_deletion	0			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6240_6242delGCA	X.37:g.70360689_70360691delGCA	ENSP00000363193:p.Gln2086del		O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.Q2087in_frame_del	ENST00000374080.3	37	c.6249_6251	CCDS43970.1	X																																																																																			MED12	-	NULL	ENSG00000184634		0.586	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1		0.00	18	0	GCA	NM_005120		70360682	+1	tier1		no_errors	ENST00000333646	ensembl	human	known	74_37	in_frame_del	23.53	13	4	DEL	0.997:1.000:1.000	-
MEGF10	84466	genome.wustl.edu	37	5	126769130	126769130	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:126769130G>T	ENST00000274473.6	+	15	2036	c.1769G>T	c.(1768-1770)gGg>gTg	p.G590V	MEGF10_ENST00000503335.2_Missense_Mutation_p.G590V	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	590	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGTAAAAATGGGGCTTCATGC	0.552																																																	0													121.0	117.0	118.0					5																	126769130		2203	4300	6503	SO:0001583	missense	0			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1769G>T	5.37:g.126769130G>T	ENSP00000274473:p.Gly590Val		Q68DE5|Q8WUL3	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.G590V	ENST00000274473.6	37	c.1769	CCDS4142.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.253534	0.95336	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.72394	-0.65;-0.65	6.17	6.17	0.99709	EGF-like, laminin (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.069460	0.56097	D	0.000028	D	0.90246	0.6950	H	0.95917	3.74	0.80722	D	1	D	0.71674	0.998	D	0.85130	0.997	D	0.91942	0.5564	10	0.87932	D	0	-13.305	20.8794	0.99867	0.0:0.0:1.0:0.0	.	590	Q96KG7	MEG10_HUMAN	V	590	ENSP00000423354:G590V;ENSP00000274473:G590V	ENSP00000274473:G590V	G	+	2	0	MEGF10	126797029	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	9.823000	0.99369	2.941000	0.99782	0.655000	0.94253	GGG	MEGF10	-	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom	ENSG00000145794		0.552	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF10	HGNC	protein_coding	OTTHUMT00000250973.2	-	0.00	35	0	G	NM_032446		126769130	+1	tier1	-	no_errors	ENST00000274473	ensembl	human	known	74_37	missense	53.49	20	23	SNP	1.000	T
MEGF8	1954	genome.wustl.edu	37	19	42872627	42872627	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:42872627G>T	ENST00000251268.6	+	36	6294	c.6294G>T	c.(6292-6294)ctG>ctT	p.L2098L	MEGF8_ENST00000334370.4_Silent_p.L2031L|MEGF8_ENST00000378073.4_5'Flank	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2098	PSI 6.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTTCCTACCTGCCCCTGCGAT	0.602																																																	0													9.0	10.0	10.0					19																	42872627		2118	4172	6290	SO:0001819	synonymous_variant	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6294G>T	19.37:g.42872627G>T			A8KAY0|O75097	Silent	SNP	pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin	p.L2098	ENST00000251268.6	37	c.6294		19																																																																																			MEGF8	-	smart_Plexin-like_fold	ENSG00000105429		0.602	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1		0.00	33	0	G	NM_001410		42872627	+1			no_errors	ENST00000251268	ensembl	human	known	74_37	silent	10.81	33	4	SNP	1.000	T
MFSD11	79157	genome.wustl.edu	37	17	74774312	74774312	+	Missense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:74774312C>A	ENST00000588460.1	+	13	3270	c.1228C>A	c.(1228-1230)Ctc>Atc	p.L410I	MFSD11_ENST00000355954.3_Missense_Mutation_p.L358I|MFSD11_ENST00000336509.4_Missense_Mutation_p.L410I|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000593181.1_Missense_Mutation_p.L358I|MFSD11_ENST00000586622.1_Missense_Mutation_p.L410I|MFSD11_ENST00000590514.1_Missense_Mutation_p.L410I	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	410						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CAACTACCTTCTCCTTCACTG	0.498																																																	0													184.0	168.0	173.0					17																	74774312		2203	4300	6503	SO:0001583	missense	0			BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.1228C>A	17.37:g.74774312C>A	ENSP00000464932:p.Leu410Ile		O43442|Q9NXI5	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.L410I	ENST00000588460.1	37	c.1228	CCDS11750.1	17	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653794	0.47362	.	.	ENSG00000092931	ENST00000336509;ENST00000355954	D;D	0.81659	-1.52;-1.52	6.07	6.07	0.98685	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.74298	0.3698	L	0.52126	1.63	0.53688	D	0.999971	B;B	0.32753	0.383;0.248	B;B	0.28849	0.095;0.071	T	0.69851	-0.5033	10	0.22706	T	0.39	-22.8107	14.4328	0.67261	0.0:0.9293:0.0:0.0707	.	358;410	O43934-2;O43934	.;MFS11_HUMAN	I	410;358	ENSP00000337240:L410I;ENSP00000348225:L358I	ENSP00000337240:L410I	L	+	1	0	MFSD11	72285907	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.812000	0.62613	2.885000	0.99019	0.655000	0.94253	CTC	MFSD11	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000092931		0.498	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MFSD11	HGNC	protein_coding	OTTHUMT00000451516.1		0.00	11	0	C	NM_024311		74774312	+1			no_errors	ENST00000336509	ensembl	human	known	74_37	missense	9.52	19	2	SNP	1.000	A
MICAL3	57553	genome.wustl.edu	37	22	18347523	18347523	+	Intron	DEL	A	A	-			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr22:18347523delA	ENST00000441493.2	-	19	2958				MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000429452.1_Frame_Shift_Del_p.F1040fs|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000585038.1_Frame_Shift_Del_p.F1040fs	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3						actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGGCACATGAAAAAGGAGTC	0.572																																																	0													41.0	43.0	43.0					22																	18347523		1568	3582	5150	SO:0001627	intron_variant	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2605+141T>-	22.37:g.18347523delA			B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Frame_Shift_Del	DEL	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.F1040fs	ENST00000441493.2	37	c.3119	CCDS46659.1	22																																																																																			MICAL3	-	NULL	ENSG00000243156		0.572	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1		0.00	44	0	A			18347523	-1	tier1		no_errors	ENST00000429452	ensembl	human	known	74_37	frame_shift_del	10.34	26	3	DEL	1.000	-
MICALL1	85377	genome.wustl.edu	37	22	38333099	38333099	+	Missense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr22:38333099C>A	ENST00000215957.6	+	14	2447	c.2321C>A	c.(2320-2322)aCg>aAg	p.T774K	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	774	Necessary and sufficient to associate with tubular recycling endosome membranes, mediate phosphatidic acid- binding and membrane tubulation.|RAB-binding domain (RBD); mediates the interaction with RAB13 and RAB35 and intramolecular interaction with the CH domain.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AAGGACTGGACGGAGGAGGAC	0.607																																																	0													59.0	63.0	62.0					22																	38333099		1944	3695	5639	SO:0001583	missense	0			BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.2321C>A	22.37:g.38333099C>A	ENSP00000215957:p.Thr774Lys		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.T774K	ENST00000215957.6	37	c.2321	CCDS13961.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.86|16.86	3.239759|3.239759	0.58995|0.58995	.|.	.|.	ENSG00000100139|ENSG00000100139	ENST00000454685|ENST00000215957;ENST00000402631;ENST00000424008	.|T;T;T	.|0.55760	.|0.5;0.5;0.5	5.26|5.26	4.25|4.25	0.50352|0.50352	.|Domain of unknown function DUF3585 (1);	.|0.099522	.|0.44285	.|D	.|0.000478	T|T	0.69151|0.69151	0.3079|0.3079	M|M	0.83953|0.83953	2.67|2.67	0.58432|0.58432	D|D	0.999997|0.999997	.|D	.|0.60160	.|0.987	.|P	.|0.61397	.|0.888	T|T	0.73026|0.73026	-0.4112|-0.4112	5|10	.|0.87932	.|D	.|0	.|.	9.8831|9.8831	0.41245|0.41245	0.0:0.8447:0.0:0.1553|0.0:0.8447:0.0:0.1553	.|.	.|774	.|Q8N3F8	.|MILK1_HUMAN	E|K	349|774;201;88	.|ENSP00000215957:T774K;ENSP00000384608:T201K;ENSP00000416766:T88K	.|ENSP00000215957:T774K	D|T	+|+	3|2	2|0	MICALL1|MICALL1	36663045|36663045	0.861000|0.861000	0.29849|0.29849	0.992000|0.992000	0.48379|0.48379	0.991000|0.991000	0.79684|0.79684	1.444000|1.444000	0.35068|0.35068	1.216000|1.216000	0.43427|0.43427	0.596000|0.596000	0.82720|0.82720	GAC|ACG	MICALL1	-	pfam_DUF3585	ENSG00000100139		0.607	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL1	HGNC	protein_coding	OTTHUMT00000319545.4		0.00	33	0	C	NM_033386		38333099	+1			no_errors	ENST00000215957	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.944	A
MIR1303	100302284	genome.wustl.edu	37	5	154065383	154065383	+	RNA	DEL	A	A	-	rs200868230|rs33982250|rs75538180	byFrequency	TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:154065383delA	ENST00000408625.1	+	0	48					NR_031638.1				microRNA 1303																		ttttttttttaaattttagag	0.478													|||unknown(HR)	2953	0.589657	0.6104	0.4337	5008	,	,		14147	0.5645		0.6859	False		,,,				2504	0.5992																0										1686,238		752,182,28	20.0	24.0	23.0			-2.6	0.0	5	dbSNP_126	52	2966,1168		1095,776,196	no	intergenic				1847,958,224	A1A1,A1R,RR		28.2535,12.3701,23.209			154065383	4652,1406	845	1946	2791			0					5	2011-09-12		2008-12-18	ENSG00000221552	ENSG00000221552		"""ncRNAs / Micro RNAs"""	35301	non-coding RNA	RNA, micro				MIRN1303			Standard	NR_031638		Approved	hsa-mir-1303					5.37:g.154065383delA				RNA	DEL	-	NULL	ENST00000408625.1	37	NULL		5																																																																																			MIR1303	-	-	ENSG00000221552		0.478	MIR1303-201	KNOWN	basic	miRNA	MIR1303	HGNC	miRNA			0.00	12	0	A	NR_031638		154065383	+1	tier1		no_errors	ENST00000408625	ensembl	human	known	74_37	rna	60.00	6	9	DEL	0.000	-
MKNK2	2872	genome.wustl.edu	37	19	2046390	2046390	+	Missense_Mutation	SNP	C	C	T	rs56158214		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:2046390C>T	ENST00000591601.1	-	3	252	c.217G>A	c.(217-219)Gac>Aac	p.D73N	MKNK2_ENST00000309340.7_Missense_Mutation_p.D73N|MKNK2_ENST00000250896.3_Missense_Mutation_p.D73N|MKNK2_ENST00000541165.1_5'UTR			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	73			D -> N (in dbSNP:rs56158214). {ECO:0000269|PubMed:17344846}.		cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAAGCTGTCGGTGGCCCGG	0.687																																																	0													34.0	41.0	39.0					19																	2046390		2202	4300	6502	SO:0001583	missense	0			AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"""Putative map kinase interacting kinase"""	605069	"""G protein-coupled receptor kinase 7"""	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.217G>A	19.37:g.2046390C>T	ENSP00000467811:p.Asp73Asn		Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D73N	ENST00000591601.1	37	c.217	CCDS12080.1	19	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593760	0.86953	.	.	ENSG00000099875	ENST00000309340;ENST00000250896;ENST00000545627	T;T	0.68181	-0.31;-0.28	4.61	4.61	0.57282	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75221	0.3820	M	0.76328	2.33	0.80722	D	1	D;P	0.60160	0.987;0.925	P;B	0.52598	0.703;0.397	T	0.77432	-0.2590	10	0.45353	T	0.12	-5.48	16.5191	0.84309	0.0:1.0:0.0:0.0	rs56158214	73;73	Q9HBH9;Q9HBH9-2	MKNK2_HUMAN;.	N	73;73;26	ENSP00000309485:D73N;ENSP00000250896:D73N	ENSP00000250896:D73N	D	-	1	0	MKNK2	1997390	1.000000	0.71417	0.959000	0.39883	0.932000	0.56968	7.205000	0.77881	2.549000	0.85964	0.484000	0.47621	GAC	MKNK2	-	pfam_LipoPS_kinase,superfamily_Kinase-like_dom	ENSG00000099875		0.687	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK2	HGNC	protein_coding	OTTHUMT00000449312.1	-	0.00	28	0	C	NM_199054		2046390	-1	tier1	rs56158214	no_errors	ENST00000250896	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.999	T
MLLT1	4298	genome.wustl.edu	37	19	6222526	6222526	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:6222526G>A	ENST00000252674.7	-	6	879	c.716C>T	c.(715-717)cCc>cTc	p.P239L		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	239					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CTCCTCCTTGGGCAGCCGGCC	0.642			T	MLL	AL																																			Dom	yes		19	19p13.3	4298	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""		L	0													31.0	31.0	31.0					19																	6222526		2203	4300	6503	SO:0001583	missense	0				CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.716C>T	19.37:g.6222526G>A	ENSP00000252674:p.Pro239Leu		Q14768	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.P239L	ENST00000252674.7	37	c.716	CCDS12160.1	19	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252539	0.22880	.	.	ENSG00000130382	ENST00000252674	.	.	.	4.55	3.51	0.40186	.	0.187334	0.47852	D	0.000218	T	0.32466	0.0830	N	0.17082	0.46	0.47037	D	0.999299	B	0.29188	0.236	B	0.24848	0.056	T	0.13202	-1.0518	9	0.51188	T	0.08	-23.4251	7.7978	0.29158	0.193:0.0:0.807:0.0	.	239	Q03111	ENL_HUMAN	L	239	.	ENSP00000252674:P239L	P	-	2	0	MLLT1	6173526	1.000000	0.71417	0.951000	0.38953	0.797000	0.45037	4.711000	0.61881	0.911000	0.36747	0.511000	0.50034	CCC	MLLT1	-	NULL	ENSG00000130382		0.642	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLLT1	HGNC	protein_coding	OTTHUMT00000452909.1	-	0.00	54	0	G	NM_005934		6222526	-1	tier1	-	no_errors	ENST00000252674	ensembl	human	known	74_37	missense	14.29	42	7	SNP	0.995	A
MLLT3	4300	genome.wustl.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871							Dom	yes		9	9p22	4300	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""		L	19	Substitution - coding silent(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)											8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	0			L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G			B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	pfam_YEATS,pfscan_YEATS	p.S167	ENST00000380338.4	37	c.501	CCDS6494.1	9																																																																																			MLLT3	-	NULL	ENSG00000171843		0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT3	HGNC	protein_coding	OTTHUMT00000051872.1		0.00	44	0	A	NM_004529		20414343	-1			no_errors	ENST00000380338	ensembl	human	known	74_37	silent	11.11	64	8	SNP	0.998	G
MMP15	4324	genome.wustl.edu	37	16	58075662	58075662	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:58075662G>T	ENST00000219271.3	+	6	1837	c.1052G>T	c.(1051-1053)gGc>gTc	p.G351V		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	351					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	CCAAAGCCGGGCCCCCCAGTC	0.726																																																	0													18.0	22.0	20.0					16																	58075662		2185	4295	6480	SO:0001583	missense	0			Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1052G>T	16.37:g.58075662G>T	ENSP00000219271:p.Gly351Val		A0A2U6|Q14111	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.G351V	ENST00000219271.3	37	c.1052	CCDS10792.1	16	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323880	0.60634	.	.	ENSG00000102996	ENST00000219271	T	0.16073	2.37	4.64	3.66	0.41972	.	0.100524	0.41938	D	0.000792	T	0.16041	0.0386	L	0.44542	1.39	0.54753	D	0.999986	B	0.30406	0.278	B	0.31337	0.128	T	0.03863	-1.0997	10	0.36615	T	0.2	.	12.5093	0.55999	0.0:0.3222:0.6778:0.0	.	351	P51511	MMP15_HUMAN	V	351	ENSP00000219271:G351V	ENSP00000219271:G351V	G	+	2	0	MMP15	56633163	0.988000	0.35896	0.977000	0.42913	0.817000	0.46193	2.018000	0.40991	0.936000	0.37367	0.491000	0.48974	GGC	MMP15	-	pirsf_Pept_M10A_Metazoans	ENSG00000102996		0.726	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP15	HGNC	protein_coding	OTTHUMT00000257342.1		0.00	60	0	G	NM_002428		58075662	+1			no_errors	ENST00000219271	ensembl	human	known	74_37	missense	5.77	48	3	SNP	0.983	T
MMP24	10893	genome.wustl.edu	37	20	33842521	33842521	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr20:33842521G>T	ENST00000246186.6	+	4	866	c.781G>T	c.(781-783)Gat>Tat	p.D261Y	EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000453892.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000456350.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	261					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	CTTTGACTCCGATGAGCCATG	0.567																																																	0													103.0	105.0	104.0					20																	33842521		2201	4300	6501	SO:0001583	missense	0			AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.781G>T	20.37:g.33842521G>T	ENSP00000246186:p.Asp261Tyr		B7ZBG8|Q9H440	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.D261Y	ENST00000246186.6	37	c.781	CCDS46593.1	20	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662598	0.88251	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.30448	1.53	5.12	5.12	0.69794	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66954	0.2842	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76291	-0.3013	10	0.72032	D	0.01	.	17.729	0.88372	0.0:0.0:1.0:0.0	.	261	Q9Y5R2	MMP24_HUMAN	Y	261;209	ENSP00000246186:D261Y	ENSP00000246186:D261Y	D	+	1	0	MMP24	33305937	1.000000	0.71417	0.971000	0.41717	0.990000	0.78478	9.657000	0.98554	2.653000	0.90120	0.655000	0.94253	GAT	MMP24	-	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo	ENSG00000125966		0.567	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP24	HGNC	protein_coding	OTTHUMT00000078851.4		0.00	48	0	G	NM_006690		33842521	+1			no_errors	ENST00000246186	ensembl	human	known	74_37	missense	5.95	79	5	SNP	1.000	T
MMP25	64386	genome.wustl.edu	37	16	3107375	3107375	+	Silent	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:3107375C>A	ENST00000336577.4	+	6	1140	c.903C>A	c.(901-903)ccC>ccA	p.P301P	RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000572427.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA|RP11-473M20.7_ENST00000597579.1_RNA|RP11-473M20.7_ENST00000572930.1_RNA|RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	315					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	CGCCCCAGCCCCCGGCCTCGC	0.652																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)												0													58.0	67.0	64.0					16																	3107375		2197	4300	6497	SO:0001819	synonymous_variant	0			AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.903C>A	16.37:g.3107375C>A			Q96F04|Q96TE2	Silent	SNP	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.P301	ENST00000336577.4	37	c.903	CCDS10492.1	16																																																																																			MMP25	-	pirsf_Pept_M10A_Metazoans	ENSG00000008516		0.652	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP25	HGNC	protein_coding	OTTHUMT00000437116.1		0.00	47	0	C	NM_022468		3107375	+1			no_errors	ENST00000336577	ensembl	human	known	74_37	silent	10.34	26	3	SNP	0.841	A
MORF4L1	10933	genome.wustl.edu	37	15	79179642	79179642	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:79179642G>T	ENST00000331268.5	+	6	595	c.391G>T	c.(391-393)Gct>Tct	p.A131S	MORF4L1_ENST00000561171.1_3'UTR|MORF4L1_ENST00000559345.1_Missense_Mutation_p.A4S|MORF4L1_ENST00000426013.2_Missense_Mutation_p.A92S|MORF4L1_ENST00000558746.1_Intron|MORF4L1_ENST00000379535.4_Missense_Mutation_p.A117S|MORF4L1_ENST00000558502.1_Missense_Mutation_p.A4S	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	131					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						GATGAGAGGGGCTGCCCCAGG	0.358																																																	0													85.0	88.0	87.0					15																	79179642		2196	4293	6489	SO:0001583	missense	0			AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.391G>T	15.37:g.79179642G>T	ENSP00000331310:p.Ala131Ser		B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_EAF3/MRG15	p.A131S	ENST00000331268.5	37	c.391	CCDS10307.1	15	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366471	0.41902	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	T;T;T	0.40225	1.04;1.04;1.57	5.38	5.38	0.77491	.	0.377447	0.26616	N	0.023397	T	0.27063	0.0663	N	0.16656	0.425	0.38517	D	0.948622	B;B;B	0.28439	0.126;0.029;0.212	B;B;B	0.25759	0.03;0.063;0.027	T	0.11941	-1.0567	10	0.07990	T	0.79	.	17.7417	0.88408	0.0:0.0:1.0:0.0	.	117;92;131	B3KTM8;Q9UBU8-2;Q9UBU8	.;.;MO4L1_HUMAN	S	117;92;131	ENSP00000368850:A117S;ENSP00000408880:A92S;ENSP00000331310:A131S	ENSP00000331310:A131S	A	+	1	0	MORF4L1	76966697	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.635000	0.74295	2.528000	0.85240	0.591000	0.81541	GCT	MORF4L1	-	pirsf_EAF3/MRG15	ENSG00000185787		0.358	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	MORF4L1	HGNC	protein_coding	OTTHUMT00000290131.4	-	0.00	63	0	G	NM_006791		79179642	+1	tier1	-	no_errors	ENST00000331268	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T
MORN3	283385	genome.wustl.edu	37	12	122091089	122091089	+	Missense_Mutation	SNP	G	G	T	rs200057950		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:122091089G>T	ENST00000355329.3	-	4	710	c.540C>A	c.(538-540)caC>caA	p.H180Q		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	180						nucleus (GO:0005634)				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		ACAGCTGGCCGTGGTCCAGAT	0.607																																																	0													69.0	59.0	63.0					12																	122091089		2203	4300	6503	SO:0001583	missense	0			BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.540C>A	12.37:g.122091089G>T	ENSP00000347486:p.His180Gln		Q86YQ9	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.H180Q	ENST00000355329.3	37	c.540	CCDS31917.1	12	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404296	0.42613	.	.	ENSG00000139714	ENST00000355329	T	0.40756	1.02	5.06	-9.42	0.00610	.	0.363718	0.29846	N	0.011059	T	0.08802	0.0218	N	0.01352	-0.895	0.20307	N	0.999917	B	0.34372	0.451	B	0.28991	0.097	T	0.34378	-0.9831	10	0.33141	T	0.24	.	5.9313	0.19140	0.6203:0.1106:0.1326:0.1366	.	180	Q6PF18	MORN3_HUMAN	Q	180	ENSP00000347486:H180Q	ENSP00000347486:H180Q	H	-	3	2	MORN3	120575472	0.008000	0.16893	0.198000	0.23420	0.701000	0.40568	-1.196000	0.03041	-1.653000	0.01500	-0.921000	0.02739	CAC	MORN3	-	NULL	ENSG00000139714		0.607	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MORN3	HGNC	protein_coding	OTTHUMT00000402154.1	-	0.00	78	0	G	NM_173855		122091089	-1	tier1	-	no_errors	ENST00000355329	ensembl	human	known	74_37	missense	5.81	81	5	SNP	0.060	T
MS4A13	503497	genome.wustl.edu	37	11	60310034	60310034	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:60310034G>T	ENST00000527948.1	+	3	730	c.172G>T	c.(172-174)Gag>Tag	p.E58*	MS4A13_ENST00000378186.2_Nonsense_Mutation_p.E149*|MS4A13_ENST00000378185.2_Nonsense_Mutation_p.E109*|MS4A13_ENST00000437058.2_Nonsense_Mutation_p.E90*			Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 13	0						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(1)|lung(2)|skin(2)	8						TGAGGAAGCTGAGAGCACTCC	0.348																																																	0													85.0	87.0	86.0					11																	60310034		2203	4300	6503	SO:0001587	stop_gained	0			AY324188	CCDS31571.1, CCDS41653.1, CCDS60801.1	11q12.2	2005-12-05	2005-12-05		ENSG00000204979	ENSG00000204979			16674	protein-coding gene	gene with protein product							Standard	NM_001012417		Approved		uc001nps.3	Q5J8X5	OTTHUMG00000167615	ENST00000527948.1:c.172G>T	11.37:g.60310034G>T	ENSP00000432713:p.Glu58*		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Nonsense_Mutation	SNP	pfam_CD20-like	p.E149*	ENST00000527948.1	37	c.445		11	.	.	.	.	.	.	.	.	.	.	G	17.10	3.304235	0.60305	.	.	ENSG00000204979	ENST00000378186;ENST00000378185;ENST00000437058;ENST00000527948	.	.	.	4.37	3.46	0.39613	.	0.696409	0.13023	N	0.419932	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-15.3762	8.551	0.33451	0.104:0.0:0.896:0.0	.	.	.	.	X	149;109;90;58	.	ENSP00000367427:E109X	E	+	1	0	MS4A13	60066610	0.045000	0.20229	0.021000	0.16686	0.001000	0.01503	2.040000	0.41203	1.425000	0.47237	-0.157000	0.13467	GAG	MS4A13	-	NULL	ENSG00000204979		0.348	MS4A13-003	NOVEL	basic|exp_conf	protein_coding	MS4A13	HGNC	protein_coding	OTTHUMT00000395411.1	-	0.00	63	0	G	NM_001012417		60310034	+1	tier1	-	no_errors	ENST00000378186	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	0.024	T
MSGN1	343930	genome.wustl.edu	37	2	17998337	17998337	+	Silent	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:17998337C>T	ENST00000281047.3	+	1	575	c.552C>T	c.(550-552)cgC>cgT	p.R184R		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	184					cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCTTAACCGCGGCAGAGAGC	0.572																																					Melanoma(127;325 1712 14802 40657 49130)												0													34.0	36.0	35.0					2																	17998337		2021	4181	6202	SO:0001819	synonymous_variant	0				CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"""paraxial mesogenin"""	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.552C>T	2.37:g.17998337C>T				Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R184	ENST00000281047.3	37	c.552	CCDS42657.1	2																																																																																			MSGN1	-	superfamily_bHLH_dom,smart_bHLH_dom	ENSG00000151379		0.572	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MSGN1	HGNC	protein_coding	OTTHUMT00000353253.1	-	0.00	64	0	C	XM_292850		17998337	+1	tier1	-	no_errors	ENST00000281047	ensembl	human	known	74_37	silent	53.73	31	36	SNP	0.033	T
MSTN	2660	genome.wustl.edu	37	2	190924808	190924808	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:190924808C>T	ENST00000260950.4	-	2	859	c.727G>A	c.(727-729)Gga>Aga	p.G243R	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	243					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TCTCCTGGTCCTGGGAAGGTT	0.348																																																	0													122.0	120.0	121.0					2																	190924808		2203	4300	6503	SO:0001583	missense	0			AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.727G>A	2.37:g.190924808C>T	ENSP00000260950:p.Gly243Arg		A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.G243R	ENST00000260950.4	37	c.727	CCDS2303.1	2	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493228	0.26774	.	.	ENSG00000138379	ENST00000260950	T	0.66280	-0.2	5.25	4.38	0.52667	Transforming growth factor-beta, N-terminal (1);	0.218941	0.46442	N	0.000283	T	0.47967	0.1474	L	0.27053	0.805	0.43642	D	0.996043	B	0.02656	0.0	B	0.06405	0.002	T	0.37126	-0.9719	10	0.22706	T	0.39	-6.8459	14.0005	0.64431	0.0:0.9274:0.0:0.0726	.	243	O14793	GDF8_HUMAN	R	243	ENSP00000260950:G243R	ENSP00000260950:G243R	G	-	1	0	MSTN	190633053	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.183000	0.50918	1.453000	0.47775	0.585000	0.79938	GGA	MSTN	-	pfam_TGF-b_N	ENSG00000138379		0.348	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTN	HGNC	protein_coding	OTTHUMT00000255917.2		0.00	27	0	C	NM_005259		190924808	-1			no_errors	ENST00000260950	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T
MUC12	10071	genome.wustl.edu	37	7	100637833	100637833	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:100637833G>A	ENST00000379442.3	+	5	4418	c.4418G>A	c.(4417-4419)aGt>aAt	p.S1473N	MUC12_ENST00000536621.1_Missense_Mutation_p.S1330N			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	1473	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						ACATCCCACAGTCAACCAGGC	0.542																																																	0													12.0	25.0	21.0					7																	100637833		524	1100	1624	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.4418G>A	7.37:g.100637833G>A	ENSP00000368755:p.Ser1473Asn		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA_dom	p.S1330N	ENST00000379442.3	37	c.3989		7	.	.	.	.	.	.	.	.	.	.	g	1.547	-0.540369	0.04053	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.12465	2.68;2.68	0.499	0.499	0.16914	.	.	.	.	.	T	0.06508	0.0167	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.42682	-0.9437	6	0.26408	T	0.33	.	.	.	.	.	.	.	.	N	1473;1330	ENSP00000368755:S1473N;ENSP00000441929:S1330N	ENSP00000368755:S1473N	S	+	2	0	MUC12	100424553	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.188000	0.17018	0.519000	0.28406	0.194000	0.17425	AGT	MUC12	-	NULL	ENSG00000205277		0.542	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	-	0.00	29	0	G	XM_379904		100637833	+1	tier1	-	no_errors	ENST00000536621	ensembl	human	known	74_37	missense	71.88	18	46	SNP	0.002	A
MUC16	94025	genome.wustl.edu	37	19	9067010	9067010	+	Silent	SNP	A	A	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:9067010A>T	ENST00000397910.4	-	3	20639	c.20436T>A	c.(20434-20436)acT>acA	p.T6812T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6814	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGAGGTGAAGTCATGGCTG	0.483																																																	0													161.0	160.0	160.0					19																	9067010		2073	4223	6296	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20436T>A	19.37:g.9067010A>T			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T6812	ENST00000397910.4	37	c.20436	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	25	0	A	NM_024690		9067010	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	35.00	13	7	SNP	0.000	T
MUC16	94025	genome.wustl.edu	37	19	9075457	9075457	+	Missense_Mutation	SNP	T	T	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:9075457T>G	ENST00000397910.4	-	3	12192	c.11989A>C	c.(11989-11991)Acc>Ccc	p.T3997P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3999	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCCATGTGGTTGTTGACATA	0.488																																																	0													88.0	85.0	86.0					19																	9075457		2077	4192	6269	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11989A>C	19.37:g.9075457T>G	ENSP00000381008:p.Thr3997Pro		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T3997P	ENST00000397910.4	37	c.11989	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	1.953	-0.440861	0.04636	.	.	ENSG00000181143	ENST00000397910	T	0.14640	2.49	1.64	-3.28	0.05033	.	.	.	.	.	T	0.05273	0.0140	N	0.05441	-0.05	.	.	.	B	0.06786	0.001	B	0.04013	0.001	T	0.34551	-0.9824	8	0.87932	D	0	.	0.9752	0.01424	0.196:0.1611:0.3944:0.2484	.	3997	B5ME49	.	P	3997	ENSP00000381008:T3997P	ENSP00000381008:T3997P	T	-	1	0	MUC16	8936457	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-4.606000	0.00209	-1.632000	0.01541	0.260000	0.18958	ACC	MUC16	-	NULL	ENSG00000181143		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	60	0	T	NM_024690		9075457	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	24.59	46	15	SNP	0.000	G
MUC5B	727897	genome.wustl.edu	37	11	1264031	1264031	+	Missense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:1264031C>A	ENST00000529681.1	+	31	5979	c.5921C>A	c.(5920-5922)aCa>aAa	p.T1974K	MUC5B_ENST00000447027.1_Missense_Mutation_p.T1977K|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1974	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACAGCCACCACACCCACAGCT	0.632																																																	0													176.0	233.0	214.0					11																	1264031		2163	4259	6422	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5921C>A	11.37:g.1264031C>A	ENSP00000436812:p.Thr1974Lys		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T1977K	ENST00000529681.1	37	c.5930	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	c	6.364	0.435177	0.12045	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.18657	2.2;2.39	2.24	-4.48	0.03515	.	.	.	.	.	T	0.12347	0.0300	L	0.40543	1.245	0.09310	N	1	P;P	0.42827	0.791;0.791	B;B	0.34931	0.135;0.192	T	0.02774	-1.1112	9	0.87932	D	0	.	5.3707	0.16138	0.1323:0.6021:0.1318:0.1339	.	2667;1977	A7Y9J9;E9PBJ0	.;.	K	1974;1977;1975;2044	ENSP00000436812:T1974K;ENSP00000415793:T1977K	ENSP00000343037:T1975K	T	+	2	0	MUC5B	1220607	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-4.235000	0.00269	-2.551000	0.00479	-0.984000	0.02558	ACA	MUC5B	-	NULL	ENSG00000117983		0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0.00	146	0	C	XM_001126093		1264031	+1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	79.23	27	103	SNP	0.000	A
MYCBPAP	84073	genome.wustl.edu	37	17	48600309	48600309	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:48600309G>T	ENST00000323776.5	+	11	1558	c.1396G>T	c.(1396-1398)Ggg>Tgg	p.G466W	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.G429W	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GAGGCAGGTTGGGATTGCTGC	0.502																																																	0													79.0	79.0	79.0					17																	48600309		2203	4300	6503	SO:0001583	missense	0			BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1396G>T	17.37:g.48600309G>T	ENSP00000323184:p.Gly466Trp			Missense_Mutation	SNP	NULL	p.G466W	ENST00000323776.5	37	c.1396	CCDS32680.2	17	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997222	0.54147	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.46451	0.87;0.87	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.69548	0.3123	M	0.80847	2.515	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.71533	-0.4564	10	0.87932	D	0	-21.6639	20.3422	0.98769	0.0:0.0:1.0:0.0	.	429	Q8TBZ2	MYBPP_HUMAN	W	466;429	ENSP00000323184:G466W;ENSP00000397209:G429W	ENSP00000323184:G466W	G	+	1	0	MYCBPAP	45955308	1.000000	0.71417	0.930000	0.37139	0.026000	0.11368	7.113000	0.77095	2.810000	0.96702	0.655000	0.94253	GGG	MYCBPAP	-	NULL	ENSG00000136449		0.502	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYCBPAP	HGNC	protein_coding	OTTHUMT00000347814.1		0.00	52	0	G	NM_032133		48600309	+1			no_errors	ENST00000323776	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.999	T
MYH11	4629	genome.wustl.edu	37	16	15815452	15815452	+	Missense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:15815452C>A	ENST00000300036.5	-	32	4514	c.4405G>T	c.(4405-4407)Gat>Tat	p.D1469Y	NDE1_ENST00000342673.5_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.D1476Y|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000576790.2_Missense_Mutation_p.D1469Y|MYH11_ENST00000396324.3_Missense_Mutation_p.D1476Y	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1469					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCCCTCTCATCCGCGTATTTG	0.537			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0													100.0	95.0	97.0					16																	15815452		2197	4300	6497	SO:0001583	missense	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4405G>T	16.37:g.15815452C>A	ENSP00000300036:p.Asp1469Tyr		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.D1476Y	ENST00000300036.5	37	c.4426	CCDS10565.1	16	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479331	0.44044	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	4.82	4.82	0.62117	Myosin tail (1);	0.117769	0.56097	D	0.000028	T	0.82121	0.4968	L	0.38175	1.15	0.58432	D	0.999999	D;D;D;P;D	0.54601	0.967;0.967;0.967;0.941;0.967	P;P;P;P;P	0.62649	0.903;0.905;0.905;0.905;0.905	D	0.84325	0.0518	10	0.66056	D	0.02	.	16.8829	0.86068	0.0:1.0:0.0:0.0	.	1476;1469;1476;1469;1476	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	Y	1469;1469;1476;1476;1476	ENSP00000300036:D1469Y;ENSP00000345136:D1469Y;ENSP00000379616:D1476Y;ENSP00000407821:D1476Y	ENSP00000300036:D1469Y	D	-	1	0	MYH11	15722953	1.000000	0.71417	0.998000	0.56505	0.062000	0.15995	6.006000	0.70724	2.218000	0.71995	0.462000	0.41574	GAT	MYH11	-	pfam_Myosin_tail	ENSG00000133392		0.537	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2		0.00	20	0	C	NM_001040113		15815452	-1			no_errors	ENST00000396324	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A
MYO18B	84700	genome.wustl.edu	37	22	26231267	26231267	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr22:26231267G>T	ENST00000407587.2	+	17	3237	c.3068G>T	c.(3067-3069)cGc>cTc	p.R1023L	MYO18B_ENST00000536101.1_Missense_Mutation_p.R1022L|MYO18B_ENST00000335473.7_Missense_Mutation_p.R1022L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1022	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGCAGGTCCGCTTACCAGCT	0.562																																																	0													36.0	38.0	37.0					22																	26231267		1898	4126	6024	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3068G>T	22.37:g.26231267G>T	ENSP00000386096:p.Arg1023Leu		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1022L	ENST00000407587.2	37	c.3065		22	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249670	0.22880	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86627	-2.14;-2.14;-2.15	4.83	1.16	0.20824	Myosin head, motor domain (2);	0.416683	0.24497	N	0.038018	T	0.74045	0.3665	N	0.10760	0.04	0.19575	N	0.999962	P;P;P;P	0.50819	0.759;0.939;0.815;0.925	B;P;B;P	0.50970	0.363;0.655;0.338;0.524	T	0.65734	-0.6096	10	0.18710	T	0.47	.	3.168	0.06542	0.3571:0.2201:0.4229:0.0	.	535;1022;1023;1022	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	L	1022;1022;1023	ENSP00000441229:R1022L;ENSP00000334563:R1022L;ENSP00000386096:R1023L	ENSP00000334563:R1022L	R	+	2	0	MYO18B	24561267	0.012000	0.17670	0.448000	0.26945	0.196000	0.23810	-0.086000	0.11233	0.385000	0.24970	0.643000	0.83706	CGC	MYO18B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000133454		0.562	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1		0.00	33	0	G	NM_032608		26231267	+1			no_errors	ENST00000335473	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.330	T
NABP2	79035	genome.wustl.edu	37	12	56622934	56622934	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:56622934G>T	ENST00000380198.2	+	6	1071	c.573G>T	c.(571-573)ccG>ccT	p.P191P	NABP2_ENST00000267023.4_Silent_p.P191P|SLC39A5_ENST00000266980.4_5'Flank|NABP2_ENST00000341463.5_Silent_p.P191P|SLC39A5_ENST00000454355.2_5'Flank			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	191	Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)										CTGCAGGCCCGCCTGGCCCTT	0.602																																																	0													63.0	61.0	62.0					12																	56622934		2203	4300	6503	SO:0001819	synonymous_variant	0			BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"""single strand DNA-binding protein 1"", ""sensor of single-strand DNA complex subunit B1"""	612104	"""oligonucleotide/oligosaccharide-binding fold containing 2B"""	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.573G>T	12.37:g.56622934G>T			A6NDF8|Q6XYC8	Silent	SNP	pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold	p.P191	ENST00000380198.2	37	c.573	CCDS8911.1	12																																																																																			NABP2	-	NULL	ENSG00000139579		0.602	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NABP2	HGNC	protein_coding	OTTHUMT00000326610.1		0.00	61	0	G	NM_024068		56622934	+1			no_errors	ENST00000267023	ensembl	human	known	74_37	silent	7.02	50	4	SNP	0.995	T
NALCN	259232	genome.wustl.edu	37	13	101936359	101936359	+	Missense_Mutation	SNP	T	T	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr13:101936359T>G	ENST00000251127.6	-	10	1140	c.1059A>C	c.(1057-1059)gaA>gaC	p.E353D	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.E353D	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	353					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGCAGCATCTTCATGAAACA	0.443																																																	0													39.0	39.0	39.0					13																	101936359		2203	4300	6503	SO:0001583	missense	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1059A>C	13.37:g.101936359T>G	ENSP00000251127:p.Glu353Asp		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.E353D	ENST00000251127.6	37	c.1059	CCDS9498.1	13	.	.	.	.	.	.	.	.	.	.	T	11.09	1.537686	0.27475	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98512	-4.54;-4.97	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.94208	0.8141	N	0.19112	0.55	0.80722	D	1	B;P;B	0.44478	0.013;0.836;0.226	B;B;B	0.38616	0.013;0.277;0.04	D	0.93402	0.6761	10	0.37606	T	0.19	.	10.1763	0.42941	0.0:0.0746:0.0:0.9254	.	353;353;353	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	D	353	ENSP00000251127:E353D;ENSP00000365367:E353D	ENSP00000251127:E353D	E	-	3	2	NALCN	100734360	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.440000	0.44855	2.131000	0.65755	0.443000	0.29094	GAA	NALCN	-	NULL	ENSG00000102452		0.443	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	-	0.00	63	0	T	NM_052867		101936359	-1	tier1	-	no_errors	ENST00000251127	ensembl	human	known	74_37	missense	63.16	14	24	SNP	1.000	G
NASP	4678	genome.wustl.edu	37	1	46073362	46073362	+	Missense_Mutation	SNP	A	A	G	rs75187774	byFrequency	TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:46073362A>G	ENST00000350030.3	+	6	866	c.779A>G	c.(778-780)cAg>cGg	p.Q260R	NASP_ENST00000351223.3_Intron|NASP_ENST00000372052.4_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.Q196R|NASP_ENST00000402363.3_Missense_Mutation_p.Q262R	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	260	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AAAGGAGGTCAGGAGAAGCAG	0.478																																																	0													45.0	47.0	46.0					1																	46073362		2203	4300	6503	SO:0001583	missense	0			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.779A>G	1.37:g.46073362A>G	ENSP00000255120:p.Gln260Arg		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q262R	ENST00000350030.3	37	c.785	CCDS524.1	1	.	.	.	.	.	.	.	.	.	.	A	14.28	2.487349	0.44249	.	.	ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000470768	D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51	5.0	5.0	0.66597	.	0.414434	0.26446	N	0.024338	D	0.90417	0.7000	N	0.14661	0.345	0.27816	N	0.941959	B;P;D;B;P	0.54047	0.447;0.734;0.964;0.319;0.59	B;B;P;B;B	0.47981	0.202;0.188;0.563;0.1;0.202	D	0.85121	0.0969	9	.	.	.	-0.1249	15.3918	0.74751	1.0:0.0:0.0:0.0	.	196;260;160;260;262	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	R	196;262;160;260;223	ENSP00000438871:Q196R;ENSP00000384529:Q262R;ENSP00000255120:Q260R;ENSP00000436924:Q223R	.	Q	+	2	0	NASP	45845949	0.321000	0.24625	1.000000	0.80357	0.958000	0.62258	1.592000	0.36676	2.182000	0.69389	0.528000	0.53228	CAG	NASP	-	NULL	ENSG00000132780		0.478	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NASP	HGNC	protein_coding	OTTHUMT00000021533.2		0.00	48	0	A	NM_002482		46073362	+1			no_errors	ENST00000402363	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	G
NAT16	375607	genome.wustl.edu	37	7	100816688	100816688	+	Silent	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:100816688G>A	ENST00000300303.2	-	3	664	c.426C>T	c.(424-426)ttC>ttT	p.F142F	NAT16_ENST00000455377.1_Silent_p.F142F	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	142	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)										GCTGCGAGCAGAAGCGCTGCA	0.706																																																	0													26.0	28.0	27.0					7																	100816688		2201	4296	6497	SO:0001819	synonymous_variant	0			AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"""chromosome 7 open reading frame 52"""	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.426C>T	7.37:g.100816688G>A			B3KRS2|Q8NDR1	Silent	SNP	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.F142	ENST00000300303.2	37	c.426	CCDS5713.1	7																																																																																			NAT16	-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000167011		0.706	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT16	HGNC	protein_coding	OTTHUMT00000347465.1	-	0.00	11	0	G	NM_198571		100816688	-1	tier1	-	no_errors	ENST00000300303	ensembl	human	known	74_37	silent	50.00	8	8	SNP	1.000	A
NAV2	89797	genome.wustl.edu	37	11	20136187	20136187	+	Missense_Mutation	SNP	A	A	G	rs369324745		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:20136187A>G	ENST00000396087.3	+	40	7286	c.7187A>G	c.(7186-7188)gAc>gGc	p.D2396G	NAV2_ENST00000540292.1_Missense_Mutation_p.D2327G|NAV2_ENST00000349880.4_Missense_Mutation_p.D2337G|NAV2_ENST00000311043.8_Missense_Mutation_p.D1401G|NAV2_ENST00000360655.4_Missense_Mutation_p.D2273G|NAV2_ENST00000533917.1_Missense_Mutation_p.D1401G|NAV2_ENST00000527559.2_Missense_Mutation_p.D2325G|NAV2_ENST00000396085.1_Missense_Mutation_p.D2340G	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2396					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGGGTGATGGACACATATCCA	0.602																																																	0								A	GLY/ASP,GLY/ASP,GLY/ASP,GLY/ASP	0,4406		0,0,2203	73.0	60.0	65.0		6818,4202,7010,7019	5.9	1.0	11		65	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	NAV2	NM_001111018.1,NM_001111019.1,NM_145117.4,NM_182964.5	94,94,94,94	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	2273/2366,1401/1494,2337/2430,2340/2433	20136187	1,13005	2203	4300	6503	SO:0001583	missense	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.7187A>G	11.37:g.20136187A>G	ENSP00000379396:p.Asp2396Gly		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.D2396G	ENST00000396087.3	37	c.7187	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	A	24.2	4.506537	0.85282	0.0	1.16E-4	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	T;T;T;T;T;T;T;T	0.30981	1.51;1.62;1.61;1.63;1.52;1.52;3.15;3.15	5.92	5.92	0.95590	.	0.080279	0.52532	D	0.000063	T	0.47154	0.1430	L	0.47016	1.485	0.58432	D	0.999998	P;P;D;P	0.58620	0.774;0.787;0.983;0.726	P;P;D;B	0.63957	0.653;0.521;0.92;0.446	T	0.27123	-1.0083	9	.	.	.	.	16.0262	0.80548	1.0:0.0:0.0:0.0	.	2340;1401;2337;2273	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	G	2273;2340;2337;2396;2325;2327;1401;1401	ENSP00000353871:D2273G;ENSP00000379394:D2340G;ENSP00000309577:D2337G;ENSP00000379396:D2396G;ENSP00000435395:D2325G;ENSP00000443489:D2327G;ENSP00000437316:D1401G;ENSP00000312169:D1401G	.	D	+	2	0	NAV2	20092763	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.339000	0.96797	2.263000	0.75096	0.533000	0.62120	GAC	NAV2	-	NULL	ENSG00000166833		0.602	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	-	0.00	26	0	A	NM_145117		20136187	+1	tier1	-	no_errors	ENST00000396087	ensembl	human	known	74_37	missense	80.95	4	17	SNP	1.000	G
NAV3	89795	genome.wustl.edu	37	12	78574825	78574825	+	Splice_Site	SNP	G	G	C			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:78574825G>C	ENST00000397909.2	+	30	5865	c.5692G>C	c.(5692-5694)Gat>Cat	p.D1898H	NAV3_ENST00000266692.7_Splice_Site_p.D1699H|NAV3_ENST00000228327.6_Splice_Site_p.D1876H|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000536525.2_Splice_Site_p.D1876H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1898						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGTTAGCTCAGGTGATTTAGT	0.448										HNSCC(70;0.22)																																							0													93.0	92.0	92.0					12																	78574825		1974	4158	6132	SO:0001630	splice_region_variant	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5692+1G>C	12.37:g.78574825G>C			Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.D1898H	ENST00000397909.2	37	c.5692		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.0|28.0	4.885453|4.885453	0.91814|0.91814	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	T;T;T;T;T|.	0.31247|.	1.57;1.55;1.55;1.5;2.38|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.41396|.	U|.	0.000892|.	T|T	0.75961|0.75961	0.3921|0.3921	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	B;D;D;D|.	0.89917|.	0.027;0.971;0.993;1.0|.	B;P;P;D|.	0.70016|.	0.009;0.823;0.825;0.967|.	T|T	0.72164|0.72164	-0.4373|-0.4373	10|5	0.87932|.	D|.	0|.	-22.0253|-22.0253	20.3343|20.3343	0.98733|0.98733	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1876;1699;1898;1876|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	H|T	1876;1898;1876;1699;490;498|770	ENSP00000446132:D1876H;ENSP00000381007:D1898H;ENSP00000228327:D1876H;ENSP00000266692:D1699H;ENSP00000448303:D498H|.	ENSP00000228327:D1876H|.	D|R	+|+	1|2	0|0	NAV3|NAV3	77098956|77098956	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.891000|0.891000	0.51852|0.51852	9.434000|9.434000	0.97515|0.97515	2.822000|2.822000	0.97130|0.97130	0.650000|0.650000	0.86243|0.86243	GAT|AGA	NAV3	-	NULL	ENSG00000067798		0.448	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	-	0.00	31	0	G	NM_001024383	Missense_Mutation	78574825	+1	tier1	-	no_errors	ENST00000397909	ensembl	human	known	74_37	missense	50.00	16	16	SNP	1.000	C
NEBL	10529	genome.wustl.edu	37	10	21250693	21250693	+	Missense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:21250693C>A	ENST00000417816.2	-	4	618	c.265G>T	c.(265-267)Gat>Tat	p.D89Y	NEBL_ENST00000377159.4_Missense_Mutation_p.D55Y	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	753					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.D89N(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCTTCAAAATCTCTTTTGTAC	0.488																																																	1	Substitution - Missense(1)	large_intestine(1)											149.0	139.0	143.0					10																	21250693		2203	4300	6503	SO:0001583	missense	0			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000417816.2:c.265G>T	10.37:g.21250693C>A	ENSP00000393896:p.Asp89Tyr		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_LIM,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain	p.D89Y	ENST00000417816.2	37	c.265	CCDS7133.1	10	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720599	0.89205	.	.	ENSG00000078114	ENST00000417816;ENST00000377159	T;T	0.56275	0.47;0.47	5.42	5.42	0.78866	.	.	.	.	.	T	0.77032	0.4071	M	0.86268	2.805	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.80341	-0.1423	9	0.87932	D	0	.	19.5873	0.95495	0.0:1.0:0.0:0.0	.	89	Q70I54	.	Y	89;55	ENSP00000393896:D89Y;ENSP00000366364:D55Y	ENSP00000366364:D55Y	D	-	1	0	NEBL	21290699	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.671000	0.83941	2.702000	0.92279	0.650000	0.86243	GAT	NEBL	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000078114		0.488	NEBL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NEBL	HGNC	protein_coding	OTTHUMT00000047112.1		0.00	25	0	C	NM_006393		21250693	-1			no_errors	ENST00000417816	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	A
NEMF	9147	genome.wustl.edu	37	14	50251875	50251875	+	Intron	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr14:50251875G>T	ENST00000298310.5	-	31	3479				NEMF_ENST00000382135.2_Intron|NEMF_ENST00000545773.1_Intron|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Intron			O60524	NEMF_HUMAN	nuclear export mediator factor						nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						AATTACATGTGTTACTAAATA	0.308																																																	0													67.0	67.0	67.0					14																	50251875		2203	4300	6503	SO:0001627	intron_variant	0			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.3030-22C>A	14.37:g.50251875G>T			A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	RNA	SNP	-	NULL	ENST00000298310.5	37	NULL	CCDS9694.1	14																																																																																			NEMF	-	-	ENSG00000165525		0.308	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEMF	HGNC	protein_coding	OTTHUMT00000410798.1	-	0.00	74	0	G	NM_004713		50251875	-1	tier1	-	no_errors	ENST00000556925	ensembl	human	known	74_37	rna	5.88	64	4	SNP	0.012	T
NFATC2	4773	genome.wustl.edu	37	20	50139887	50139887	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr20:50139887G>A	ENST00000396009.3	-	2	1112	c.893C>T	c.(892-894)gCt>gTt	p.A298V	NFATC2_ENST00000610033.1_Missense_Mutation_p.A79V|NFATC2_ENST00000414705.1_Missense_Mutation_p.A278V|NFATC2_ENST00000371564.3_Missense_Mutation_p.A298V|NFATC2_ENST00000609507.1_Missense_Mutation_p.A79V|NFATC2_ENST00000609943.1_Missense_Mutation_p.A278V	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	298					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGCAGAGCCAGCCACAGGGGG	0.706																																																	0													8.0	11.0	10.0					20																	50139887		2154	4216	6370	SO:0001583	missense	0			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.893C>T	20.37:g.50139887G>A	ENSP00000379330:p.Ala298Val		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.A298V	ENST00000396009.3	37	c.893	CCDS13437.1	20	.	.	.	.	.	.	.	.	.	.	G	10.80	1.453653	0.26161	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.14640	2.49;2.49;2.49	5.24	4.29	0.51040	.	0.559829	0.19855	N	0.104548	T	0.12135	0.0295	L	0.34521	1.04	0.29983	N	0.817576	P;P;P;B	0.44627	0.704;0.704;0.839;0.085	B;B;B;B	0.40825	0.197;0.341;0.145;0.009	T	0.03534	-1.1027	10	0.27785	T	0.31	-5.6139	13.8976	0.63783	0.0741:0.0:0.9259:0.0	.	278;278;298;298	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	V	298;298;79;278	ENSP00000360619:A298V;ENSP00000379330:A298V;ENSP00000396471:A278V	ENSP00000360619:A298V	A	-	2	0	NFATC2	49573294	0.360000	0.24964	0.065000	0.19835	0.588000	0.36517	3.264000	0.51553	1.203000	0.43233	0.305000	0.20034	GCT	NFATC2	-	NULL	ENSG00000101096		0.706	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000079730.2		0.00	14	0	G	NM_012340		50139887	-1			no_errors	ENST00000396009	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.831	A
NLRC5	84166	genome.wustl.edu	37	16	57054745	57054745	+	Silent	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:57054745C>T	ENST00000262510.6	+	3	346	c.121C>T	c.(121-123)Ctg>Ttg	p.L41L	NLRC5_ENST00000436936.1_Silent_p.L41L|NLRC5_ENST00000539144.1_Silent_p.L41L|NLRC5_ENST00000308149.7_Silent_p.L41L	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	41					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CAACACGGACCTGGATTCCAG	0.537																																																	0													106.0	92.0	97.0					16																	57054745		2198	4300	6498	SO:0001819	synonymous_variant	0			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.121C>T	16.37:g.57054745C>T			B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.L41	ENST00000262510.6	37	c.121	CCDS10773.1	16																																																																																			NLRC5	-	NULL	ENSG00000140853		0.537	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	-	0.00	56	0	C	NM_032206		57054745	+1	tier1	-	no_errors	ENST00000262510	ensembl	human	known	74_37	silent	87.18	5	34	SNP	0.990	T
NOD1	10392	genome.wustl.edu	37	7	30492190	30492190	+	Missense_Mutation	SNP	G	G	T	rs5743341	byFrequency	TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:30492190G>T	ENST00000222823.4	-	6	1368	c.843C>A	c.(841-843)ttC>ttA	p.F281L	NOD1_ENST00000423334.2_Nonsense_Mutation_p.S236*	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	281	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CATCGAAGGTGAAGAGGGCCA	0.652																																																	0													53.0	53.0	53.0					7																	30492190		2203	4300	6503	SO:0001583	missense	0			AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.843C>A	7.37:g.30492190G>T	ENSP00000222823:p.Phe281Leu		B4DTU3|Q549U4|Q8IWF5	Nonsense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.S236*	ENST00000222823.4	37	c.707	CCDS5427.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.635911|6.635911	0.97722|0.97722	.|.	.|.	ENSG00000106100|ENSG00000106100	ENST00000222823|ENST00000423334	T|.	0.72505|.	-0.66|.	5.54|5.54	3.71|3.71	0.42584|0.42584	NACHT nucleoside triphosphatase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.56337|.	0.1978|.	L|L	0.53249|0.53249	1.67|1.67	0.42919|0.42919	D|D	0.994286|0.994286	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|.	0.50440|.	-0.8828|.	10|.	0.19590|0.19590	T|T	0.45|0.45	.|.	9.2177|9.2177	0.37358|0.37358	0.225:0.0:0.775:0.0|0.225:0.0:0.775:0.0	.|.	281|.	Q9Y239|.	NOD1_HUMAN|.	L|X	281|236	ENSP00000222823:F281L|.	ENSP00000222823:F281L|ENSP00000409416:S236X	F|S	-|-	3|2	2|0	NOD1|NOD1	30458715|30458715	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	2.012000|2.012000	0.40932|0.40932	1.335000|1.335000	0.45486|0.45486	0.563000|0.563000	0.77884|0.77884	TTC|TCA	NOD1	-	NULL	ENSG00000106100		0.652	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD1	HGNC	protein_coding	OTTHUMT00000250443.2	-	0.00	51	0	G			30492190	-1	tier1	-	no_errors	ENST00000423334	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	1.000	T
NOP14	8602	genome.wustl.edu	37	4	2945897	2945897	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr4:2945897G>T	ENST00000314262.6	-	13	1842	c.1794C>A	c.(1792-1794)ttC>ttA	p.F598L	NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000416614.2_Missense_Mutation_p.F598L|NOP14_ENST00000507120.1_5'Flank|NOP14-AS1_ENST00000507702.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.F598L|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000512712.2_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.F598L	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	598					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CATACTCCAGGAACAGGCAGC	0.498																																																	0													86.0	78.0	81.0					4																	2945897		2203	4300	6503	SO:0001583	missense	0			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1794C>A	4.37:g.2945897G>T	ENSP00000315674:p.Phe598Leu		D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	pfam_Nop14	p.F598L	ENST00000314262.6	37	c.1794	CCDS33945.1	4	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717349	0.30413	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	5.47	2.54	0.30619	.	0.276491	0.36234	N	0.002720	T	0.22360	0.0539	L	0.33624	1.015	0.30536	N	0.76691	P;P;P	0.36086	0.465;0.476;0.536	B;B;B	0.42245	0.381;0.1;0.134	T	0.13899	-1.0492	10	0.87932	D	0	-25.383	8.3009	0.32014	0.324:0.0:0.676:0.0	.	391;598;598	Q96GC8;E9PFK5;P78316	.;.;NOP14_HUMAN	L	598;598;598;598;497	ENSP00000405068:F598L;ENSP00000315674:F598L;ENSP00000427415:F598L;ENSP00000381146:F598L	ENSP00000315674:F598L	F	-	3	2	NOP14	2915695	0.998000	0.40836	0.996000	0.52242	0.988000	0.76386	0.431000	0.21444	0.559000	0.29153	0.561000	0.74099	TTC	NOP14	-	pfam_Nop14	ENSG00000087269		0.498	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14	HGNC	protein_coding	OTTHUMT00000358135.2	-	0.00	44	0	G	NM_003703		2945897	-1	tier1	-	no_errors	ENST00000416614	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.998	T
NOTCH3	4854	genome.wustl.edu	37	19	15281176	15281176	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:15281176G>T	ENST00000263388.2	-	27	5155	c.5080C>A	c.(5080-5082)Cgg>Agg	p.R1694R		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1694					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACGGGTTCCCGCCGGCCCTTG	0.667																																																	0													38.0	41.0	40.0					19																	15281176		2203	4300	6503	SO:0001819	synonymous_variant	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5080C>A	19.37:g.15281176G>T			Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.R1694	ENST00000263388.2	37	c.5080	CCDS12326.1	19																																																																																			NOTCH3	-	pirsf_Notch	ENSG00000074181		0.667	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	-	0.00	54	0	G	NM_000435		15281176	-1	tier1	-	no_errors	ENST00000263388	ensembl	human	known	74_37	silent	8.51	43	4	SNP	1.000	T
NOTCH3	4854	genome.wustl.edu	37	19	15289688	15289688	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:15289688G>T	ENST00000263388.2	-	23	3858	c.3783C>A	c.(3781-3783)tgC>tgA	p.C1261*		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1261	EGF-like 32. {ECO:0000255|PROSITE- ProRule:PRU00076}.		C -> R (in CADASIL). {ECO:0000269|PubMed:11102981, ECO:0000269|PubMed:9388399}.|C -> Y (in CADASIL). {ECO:0000269|PubMed:15364702, ECO:0000269|PubMed:16009764}.		forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGCTAGGACGGCACTGGCCTC	0.652																																																	0													36.0	34.0	35.0					19																	15289688		2201	4298	6499	SO:0001587	stop_gained	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.3783C>A	19.37:g.15289688G>T	ENSP00000263388:p.Cys1261*		Q9UEB3|Q9UPL3|Q9Y6L8	Nonsense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.C1261*	ENST00000263388.2	37	c.3783	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	G	42	9.550573	0.99202	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	.	.	.	2.68	0.525	0.17072	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.6935	0.12791	0.3111:0.0:0.6889:0.0	.	.	.	.	X	1261;1211	.	ENSP00000263388:C1261X	C	-	3	2	NOTCH3	15150688	0.550000	0.26489	0.739000	0.30968	0.953000	0.61014	0.823000	0.27366	0.213000	0.20722	0.561000	0.74099	TGC	NOTCH3	-	pirsf_Notch,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	ENSG00000074181		0.652	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	-	0.00	69	0	G	NM_000435		15289688	-1	tier1	-	no_errors	ENST00000263388	ensembl	human	known	74_37	nonsense	6.15	61	4	SNP	0.982	T
NPBWR2	2832	genome.wustl.edu	37	20	62737323	62737323	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr20:62737323G>T	ENST00000369768.1	-	1	1201	c.862C>A	c.(862-864)Ctg>Atg	p.L288M		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	288					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GTCTGGGGCAGGTCCGTGGTC	0.627																																																	0													143.0	100.0	115.0					20																	62737323		2202	4298	6500	SO:0001583	missense	0			U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.862C>A	20.37:g.62737323G>T	ENSP00000358783:p.Leu288Met		Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt	p.L288M	ENST00000369768.1	37	c.862	CCDS13557.1	20	.	.	.	.	.	.	.	.	.	.	G	8.560	0.877447	0.17395	.	.	ENSG00000125522	ENST00000369768	T	0.72725	-0.68	3.43	-4.02	0.04034	GPCR, rhodopsin-like superfamily (1);	0.208574	0.31279	N	0.007938	T	0.59770	0.2218	M	0.76002	2.32	0.37725	D	0.92507	P	0.43231	0.801	B	0.40901	0.343	T	0.56105	-0.8034	10	0.66056	D	0.02	.	1.5665	0.02605	0.1712:0.4007:0.1758:0.2523	.	288	P48146	NPBW2_HUMAN	M	288	ENSP00000358783:L288M	ENSP00000358783:L288M	L	-	1	2	NPBWR2	62207767	0.999000	0.42202	0.006000	0.13384	0.107000	0.19398	0.543000	0.23237	-0.794000	0.04468	0.491000	0.48974	CTG	NPBWR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM	ENSG00000125522		0.627	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPBWR2	HGNC	protein_coding	OTTHUMT00000080300.1	-	0.00	43	0	G	NM_005286		62737323	-1	tier1	-	no_errors	ENST00000369768	ensembl	human	known	74_37	missense	5.00	95	5	SNP	0.982	T
NPIPB11	728888	genome.wustl.edu	37	16	29394655	29394655	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:29394655G>A	ENST00000524087.1	-	8	1672	c.1598C>T	c.(1597-1599)tCa>tTa	p.S533L	SNX29P2_ENST00000398878.3_lincRNA			E5RHQ5	NPB11_HUMAN	nuclear pore complex interacting protein family, member B11	533	Pro-rich.					integral component of membrane (GO:0016021)											ATCATCTGCTGAGGGTGGAGC	0.582																																																	0																																										SO:0001583	missense	0					16p11.2	2013-06-11			ENSG00000254206	ENSG00000254206			37453	protein-coding gene	gene with protein product							Standard	XM_006721110		Approved			E5RHQ5	OTTHUMG00000170467	ENST00000524087.1:c.1598C>T	16.37:g.29394655G>A	ENSP00000430853:p.Ser533Leu			Missense_Mutation	SNP	NULL	p.S533L	ENST00000524087.1	37	c.1598		16	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503372	0.26949	.	.	ENSG00000254206	ENST00000524087	T	0.18502	2.21	.	.	.	.	.	.	.	.	T	0.10035	0.0246	L	0.27053	0.805	0.09310	N	1	.	.	.	.	.	.	T	0.40608	-0.9554	4	0.11182	T	0.66	.	.	.	.	.	.	.	.	L	533	ENSP00000430853:S533L	ENSP00000430853:S533L	S	-	2	0	RP11-231C14.2	29302156	.	.	.	.	.	.	.	.	.	.	.	.	TCA	NPIPB11	-	NULL	ENSG00000254206		0.582	NPIPB11-001	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal	protein_coding	NPIPB11	HGNC	protein_coding	OTTHUMT00000374094.1	-	0.00	50	0	G	XM_002343430		29394655	-1	tier1	-	no_errors	ENST00000524087	ensembl	human	putative	74_37	missense	30.12	58	25	SNP	0.000	A
NPIPB11	728888	genome.wustl.edu	37	16	29394781	29394781	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:29394781G>A	ENST00000524087.1	-	8	1546	c.1472C>T	c.(1471-1473)tCa>tTa	p.S491L	SNX29P2_ENST00000398878.3_lincRNA			E5RHQ5	NPB11_HUMAN	nuclear pore complex interacting protein family, member B11	491	Pro-rich.					integral component of membrane (GO:0016021)											ATCATCTGCTGAGGGTGGAGC	0.587																																																	0																																										SO:0001583	missense	0					16p11.2	2013-06-11			ENSG00000254206	ENSG00000254206			37453	protein-coding gene	gene with protein product							Standard	XM_006721110		Approved			E5RHQ5	OTTHUMG00000170467	ENST00000524087.1:c.1472C>T	16.37:g.29394781G>A	ENSP00000430853:p.Ser491Leu			Missense_Mutation	SNP	NULL	p.S491L	ENST00000524087.1	37	c.1472		16	.	.	.	.	.	.	.	.	.	.	G	10.29	1.308384	0.23821	.	.	ENSG00000254206	ENST00000524087	T	0.18174	2.23	.	.	.	.	.	.	.	.	T	0.19967	0.0480	L	0.50333	1.59	0.09310	N	1	.	.	.	.	.	.	T	0.20306	-1.0279	4	0.62326	D	0.03	.	.	.	.	.	.	.	.	L	491	ENSP00000430853:S491L	ENSP00000430853:S491L	S	-	2	0	RP11-231C14.2	29302282	0.021000	0.18746	.	.	.	.	0.075000	0.14686	.	.	.	.	TCA	NPIPB11	-	NULL	ENSG00000254206		0.587	NPIPB11-001	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal	protein_coding	NPIPB11	HGNC	protein_coding	OTTHUMT00000374094.1	-	0.00	23	0	G	XM_002343430		29394781	-1	tier1	-	no_errors	ENST00000524087	ensembl	human	putative	74_37	missense	37.50	25	15	SNP	0.000	A
NR2C2	7182	genome.wustl.edu	37	3	15084803	15084803	+	3'UTR	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:15084803G>A	ENST00000425241.1	+	0	2441				MRPS25_ENST00000496484.1_Intron|NR2C2_ENST00000478572.1_3'UTR|NR2C2_ENST00000323373.6_3'UTR			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2						cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAAAAAAAAAGGTTTTATAAT	0.269																																																	0																																										SO:0001624	3_prime_UTR_variant	0			L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"""Nuclear hormone receptors"""	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.*288G>A	3.37:g.15084803G>A			A8K3H5|B6ZGT8|P55092	RNA	SNP	-	NULL	ENST00000425241.1	37	NULL		3																																																																																			NR2C2	-	-	ENSG00000177463		0.269	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	NR2C2	HGNC	protein_coding	OTTHUMT00000340729.1	-	0.00	72	0	G	NM_003298		15084803	+1	tier1	-	no_errors	ENST00000478572	ensembl	human	known	74_37	rna	28.77	50	21	SNP	0.917	A
NRAP	4892	genome.wustl.edu	37	10	115381763	115381763	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:115381763G>T	ENST00000359988.3	-	24	2878	c.2634C>A	c.(2632-2634)gtC>gtA	p.V878V	NRAP_ENST00000369358.4_Silent_p.V886V|NRAP_ENST00000369360.3_Silent_p.V851V|NRAP_ENST00000360478.3_Silent_p.V843V	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCACGAGGTGGACCATGTCCA	0.537																																																	0													270.0	200.0	224.0					10																	115381763		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2634C>A	10.37:g.115381763G>T				Silent	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.V886	ENST00000359988.3	37	c.2658	CCDS7579.1	10																																																																																			NRAP	-	smart_Nebulin_35r-motif	ENSG00000197893		0.537	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050425.2		0.00	66	0	G	NM_006175		115381763	-1			no_errors	ENST00000369358	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.967	T
NRXN3	9369	genome.wustl.edu	37	14	80328022	80328022	+	Silent	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr14:80328022G>A	ENST00000557594.1	+	6	2582	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	NRXN3_ENST00000335750.5_Silent_p.P967P|NRXN3_ENST00000554719.1_Silent_p.P967P|NRXN3_ENST00000428277.2_Silent_p.P365P|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000281127.7_Silent_p.P338P	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	543					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCACGGAGCCGGGAATCAGAC	0.597																																																	0													37.0	41.0	39.0					14																	80328022		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.1629G>A	14.37:g.80328022G>A			A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.P967	ENST00000557594.1	37	c.2901		14																																																																																			NRXN3	-	NULL	ENSG00000021645		0.597	NRXN3-004	NOVEL	basic	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413790.1	-	0.00	42	0	G	NM_001105250		80328022	+1	tier1	-	no_errors	ENST00000335750	ensembl	human	known	74_37	silent	59.52	17	25	SNP	0.969	A
NSUN3	63899	genome.wustl.edu	37	3	93795383	93795383	+	Intron	SNP	C	C	A	rs138312079	byFrequency	TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:93795383C>A	ENST00000314622.4	+	3	333				NSUN3_ENST00000485793.1_Intron	NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3								methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						ACCACATTTCCCTCCTTTGGA	0.473																																																	0																																										SO:0001627	intron_variant	0			BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"""NOP2/Sun domain containing"""	26208	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 3"", ""NOL1/NOP2/Sun domain family, member 3"""			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.123-7568C>A	3.37:g.93795383C>A			Q6PG41|Q8IXG9|Q9H6M2	RNA	SNP	-	NULL	ENST00000314622.4	37	NULL	CCDS2927.1	3																																																																																			NSUN3	-	-	ENSG00000178694		0.473	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN3	HGNC	protein_coding	OTTHUMT00000352934.1	-	0.00	20	0	C	NM_022072		93795383	+1	tier1	-	no_errors	ENST00000494128	ensembl	human	putative	74_37	rna	20.00	16	4	SNP	1.000	A
OLFM1	10439	genome.wustl.edu	37	9	137987773	137987773	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:137987773G>A	ENST00000371793.3	+	3	615	c.364G>A	c.(364-366)Gtg>Atg	p.V122M	OLFM1_ENST00000371796.3_Missense_Mutation_p.V95M|OLFM1_ENST00000252854.4_Missense_Mutation_p.V104M|OLFM1_ENST00000392991.4_Missense_Mutation_p.V122M|OLFM1_ENST00000277415.11_Missense_Mutation_p.V104M	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	122					negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CTTGCAGTACGTGGAGAAGAT	0.498																																																	0													207.0	166.0	180.0					9																	137987773		2203	4300	6503	SO:0001583	missense	0			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.364G>A	9.37:g.137987773G>A	ENSP00000360858:p.Val122Met		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like	p.V122M	ENST00000371793.3	37	c.364		9	.	.	.	.	.	.	.	.	.	.	g	21.6	4.169843	0.78452	.	.	ENSG00000130558	ENST00000277415;ENST00000252854;ENST00000339720;ENST00000371796;ENST00000539529;ENST00000392991;ENST00000371793;ENST00000539877	T;T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52	4.59	4.59	0.56863	.	0.061104	0.64402	D	0.000004	T	0.69424	0.3109	L	0.58810	1.83	0.45066	D	0.99808	D;D;D;D	0.89917	0.981;1.0;0.983;0.999	P;D;P;D	0.79108	0.705;0.992;0.861;0.942	T	0.72760	-0.4196	10	0.59425	D	0.04	.	17.5086	0.87754	0.0:0.0:1.0:0.0	.	122;122;104;104	Q99784;Q99784-2;Q6IMJ8;Q6IMJ7	NOE1_HUMAN;.;.;.	M	104;104;111;95;39;122;122;19	ENSP00000277415:V104M;ENSP00000252854:V104M;ENSP00000340318:V111M;ENSP00000360861:V95M;ENSP00000444296:V39M;ENSP00000376717:V122M;ENSP00000360858:V122M;ENSP00000443806:V19M	ENSP00000252854:V104M	V	+	1	0	OLFM1	137127594	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.807000	0.86032	2.138000	0.66242	0.627000	0.83407	GTG	OLFM1	-	pfam_Noelin-1	ENSG00000130558		0.498	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	OLFM1	HGNC	protein_coding	OTTHUMT00000054974.1	-	0.00	53	0	G	NM_014279		137987773	+1	tier1	-	no_errors	ENST00000371793	ensembl	human	known	74_37	missense	11.11	47	6	SNP	1.000	A
OMA1	115209	genome.wustl.edu	37	1	58946792	58946792	+	Nonsense_Mutation	SNP	G	G	A	rs576005631		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:58946792G>A	ENST00000371226.3	-	9	1533	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*	OMA1_ENST00000358603.2_Intron|DAB1_ENST00000485760.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	474					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					AATAGTAATCGAGGGTCTGGA	0.313													G|||	1	0.000199681	0.0	0.0	5008	,	,		14145	0.0		0.0	False		,,,				2504	0.001																0													113.0	108.0	109.0					1																	58946792		2203	4300	6503	SO:0001587	stop_gained	0			AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"""overlapping activity with M-AAA protease"", ""zinc metallopeptidase OMA1"""		"""OMA1 zinc metallopeptidase homolog (S. cerevisiae)"""			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.1420C>T	1.37:g.58946792G>A	ENSP00000360270:p.Arg474*		D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Nonsense_Mutation	SNP	pfam_Peptidase_M48	p.R474*	ENST00000371226.3	37	c.1420	CCDS608.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234871	0.79800	.	.	ENSG00000162600	ENST00000371226	.	.	.	4.31	4.31	0.51392	.	0.087205	0.45606	D	0.000348	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5207	12.456	0.55704	0.0:0.0:1.0:0.0	.	.	.	.	X	474	.	ENSP00000360270:R474X	R	-	1	2	OMA1	58719380	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	5.120000	0.64685	2.406000	0.81754	0.460000	0.39030	CGA	OMA1	-	NULL	ENSG00000162600		0.313	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMA1	HGNC	protein_coding	OTTHUMT00000027819.1	-	0.00	89	0	G	NM_145243		58946792	-1	tier1	-	no_errors	ENST00000371226	ensembl	human	known	74_37	nonsense	43.24	42	32	SNP	1.000	A
OR12D3	81797	genome.wustl.edu	37	6	29342221	29342221	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:29342221G>T	ENST00000396806.3	-	1	847	c.844C>A	c.(844-846)Cct>Act	p.P282T	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						TTCAGTACAGGGGTGACGGCG	0.453																																																	0													137.0	134.0	135.0					6																	29342221		1511	2709	4220	SO:0001583	missense	0				CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"""GPCR / Class A : Olfactory receptors"""	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.844C>A	6.37:g.29342221G>T	ENSP00000380023:p.Pro282Thr		A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P282T	ENST00000396806.3	37	c.844	CCDS4658.1	6	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399931	0.25291	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.00344	8.02	4.19	3.31	0.37934	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00608	0.0020	H	0.95884	3.735	0.09310	N	0.999991	D	0.71674	0.998	D	0.74023	0.982	T	0.25779	-1.0122	9	0.87932	D	0	-6.0603	11.7233	0.51696	0.0889:0.0:0.9111:0.0	.	282	Q9UGF7	O12D3_HUMAN	T	282	ENSP00000380023:P282T	ENSP00000366348:P282T	P	-	1	0	OR12D3	29450200	0.977000	0.34250	0.830000	0.32933	0.024000	0.10985	3.091000	0.50199	0.960000	0.38005	0.205000	0.17691	CCT	OR12D3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000112462		0.453	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR12D3	HGNC	protein_coding	OTTHUMT00000076056.3	-	0.00	49	0	G			29342221	-1	tier1	-	no_errors	ENST00000396806	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.290	T
OR4N4	283694	genome.wustl.edu	37	15	22383120	22383120	+	Silent	SNP	T	T	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:22383120T>G	ENST00000328795.4	+	1	739	c.648T>G	c.(646-648)gcT>gcG	p.A216A	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GGCTTCTGGCTTCCTATGCAG	0.502																																																	0													145.0	119.0	128.0					15																	22383120		2194	4262	6456	SO:0001819	synonymous_variant	0			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.648T>G	15.37:g.22383120T>G			Q6IEY3|Q6IF56	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A216	ENST00000328795.4	37	c.648	CCDS32173.1	15																																																																																			OR4N4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000183706		0.502	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N4	HGNC	protein_coding	OTTHUMT00000414922.1	-	0.00	121	0	T			22383120	+1	tier1	-	no_errors	ENST00000328795	ensembl	human	known	74_37	silent	10.47	77	9	SNP	0.000	G
OR51F2	119694	genome.wustl.edu	37	11	4842957	4842957	+	Silent	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:4842957G>A	ENST00000322110.5	+	1	407	c.342G>A	c.(340-342)caG>caA	p.Q114Q	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATTGCCCAGATGTTCTTTC	0.478																																																	0													178.0	158.0	165.0					11																	4842957		2201	4298	6499	SO:0001819	synonymous_variant	0			BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.342G>A	11.37:g.4842957G>A			Q6IFI1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q114	ENST00000322110.5	37	c.342	CCDS31361.1	11																																																																																			OR51F2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000176925		0.478	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51F2	HGNC	protein_coding	OTTHUMT00000142181.1	-	0.00	43	0	G	NM_001004753		4842957	+1	tier1	-	no_errors	ENST00000322110	ensembl	human	known	74_37	silent	27.27	16	6	SNP	1.000	A
OR51B6	390058	genome.wustl.edu	37	11	5372961	5372961	+	Missense_Mutation	SNP	C	C	T	rs185127545		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:5372961C>T	ENST00000380219.1	+	1	224	c.224C>T	c.(223-225)aCa>aTa	p.T75I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	75					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)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATTGACCACAATGCCCACA	0.463																																																	0													136.0	123.0	127.0					11																	5372961		2201	4297	6498	SO:0001583	missense	0				CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.224C>T	11.37:g.5372961C>T	ENSP00000369568:p.Thr75Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.T75I	ENST00000380219.1	37	c.224	CCDS31379.1	11	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120031	0.56613	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.00123	8.7	5.15	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000039	T	0.00356	0.0011	M	0.65320	2	0.30499	N	0.770607	D	0.89917	1.0	D	0.91635	0.999	T	0.45716	-0.9242	10	0.87932	D	0	.	9.6906	0.40125	0.0:0.8323:0.0:0.1677	.	75	Q9H340	O51B6_HUMAN	I	74;75	ENSP00000369568:T75I	ENSP00000369568:T75I	T	+	2	0	OR51B6	5329537	0.336000	0.24757	0.995000	0.50966	0.834000	0.47266	3.469000	0.53093	1.399000	0.46721	0.557000	0.71058	ACA	OR51B6	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176239		0.463	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B6	HGNC	protein_coding	OTTHUMT00000142960.1		0.00	46	0	C	NM_001004750		5372961	+1			no_errors	ENST00000380219	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.981	T
OR5L2	26338	genome.wustl.edu	37	11	55595176	55595176	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:55595176C>T	ENST00000378397.1	+	1	482	c.482C>T	c.(481-483)tCc>tTc	p.S161F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				ATTCACTCGTCCTTAGCTCTT	0.488										HNSCC(27;0.073)																																							0													217.0	191.0	200.0					11																	55595176		2200	4296	6496	SO:0001583	missense	0			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.482C>T	11.37:g.55595176C>T	ENSP00000367650:p.Ser161Phe		Q6IF66|Q96RB2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S161F	ENST00000378397.1	37	c.482	CCDS31511.1	11	.	.	.	.	.	.	.	.	.	.	.	1.859	-0.463174	0.04476	.	.	ENSG00000205030	ENST00000378397	T	0.33438	1.41	5.18	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000023	T	0.18173	0.0436	L	0.37561	1.115	0.09310	N	1	B	0.11235	0.004	B	0.15052	0.012	T	0.32134	-0.9918	10	0.10111	T	0.7	-20.2258	4.698	0.12813	0.0786:0.279:0.4983:0.1441	.	161	Q8NGL0	OR5L2_HUMAN	F	161	ENSP00000367650:S161F	ENSP00000367650:S161F	S	+	2	0	OR5L2	55351752	0.000000	0.05858	0.008000	0.14137	0.004000	0.04260	-0.179000	0.09768	0.306000	0.22856	-0.973000	0.02599	TCC	OR5L2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000205030		0.488	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	-	0.00	23	0	C	NM_001004739		55595176	+1	tier1	-	no_errors	ENST00000378397	ensembl	human	known	74_37	missense	68.42	6	13	SNP	0.000	T
OR8H1	219469	genome.wustl.edu	37	11	56057870	56057870	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:56057870G>T	ENST00000313022.2	-	1	696	c.669C>A	c.(667-669)acC>acA	p.T223T		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T223T(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TTTTCAGGATGGTAGAGAGAA	0.393																																																	1	Substitution - coding silent(1)	ovary(1)											136.0	125.0	129.0					11																	56057870		2201	4294	6495	SO:0001819	synonymous_variant	0			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.669C>A	11.37:g.56057870G>T			B2RNI7|Q6IFC5	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T223	ENST00000313022.2	37	c.669	CCDS31526.1	11																																																																																			OR8H1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181693		0.393	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H1	HGNC	protein_coding	OTTHUMT00000370019.1		0.00	50	0	G	NM_001005199		56057870	-1			no_errors	ENST00000313022	ensembl	human	known	74_37	silent	5.13	37	2	SNP	0.000	T
OR8D1	283159	genome.wustl.edu	37	11	124180006	124180006	+	Silent	SNP	G	G	T	rs369956026		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:124180006G>T	ENST00000357821.2	-	1	727	c.657C>A	c.(655-657)gcC>gcA	p.A219A		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AGAGGATGAAGGCATAGGAGA	0.502																																																	0								G		0,4402		0,0,2201	66.0	52.0	57.0		657	0.2	0.0	11		57	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	OR8D1	NM_001002917.1		0,1,6499	TT,TG,GG		0.0116,0.0,0.0077		219/309	124180006	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	0			AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.657C>A	11.37:g.124180006G>T			B2RNL4|Q6IEW1|Q8NGH0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A219	ENST00000357821.2	37	c.657	CCDS31706.1	11																																																																																			OR8D1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000196341		0.502	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D1	HGNC	protein_coding	OTTHUMT00000387285.1	-	0.00	54	0	G	NM_001002917		124180006	-1	tier1	-	no_errors	ENST00000357821	ensembl	human	known	74_37	silent	6.90	53	4	SNP	0.000	T
PADI6	353238	genome.wustl.edu	37	1	17720816	17720816	+	RNA	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:17720816G>T	ENST00000434762.2	+	0	1254							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TTGGCTACATGATCCAGGACA	0.562																																																	0													37.0	39.0	38.0					1																	17720816		1905	4129	6034			0			AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17720816G>T			Q330K5|Q70SX3	RNA	SNP	-	NULL	ENST00000434762.2	37	NULL		1																																																																																			PADI6	-	-	ENSG00000256049		0.562	PADI6-001	KNOWN	basic	processed_transcript	PADI6	HGNC	processed_transcript	OTTHUMT00000006804.4	-	0.00	53	0	G	NM_207421		17720816	+1	tier1	-	no_errors	ENST00000358481	ensembl	human	known	74_37	rna	9.76	37	4	SNP	0.996	T
OTUD7B	56957	genome.wustl.edu	37	1	149921626	149921626	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:149921626G>T	ENST00000369135.4	-	9	1323	c.1029C>A	c.(1027-1029)agC>agA	p.S343R		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	343	Catalytic.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GGTGACACTGGCTGGCTGGGA	0.527																																																	0													59.0	62.0	61.0					1																	149921626		1989	4168	6157	SO:0001583	missense	0			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1029C>A	1.37:g.149921626G>T	ENSP00000358131:p.Ser343Arg		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.S343R	ENST00000369135.4	37	c.1029	CCDS41389.1	1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391217	0.62066	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.32023	1.47;1.47	5.05	5.05	0.67936	Ovarian tumour, otubain (2);	0.209251	0.49305	D	0.000145	T	0.35008	0.0917	L	0.56199	1.76	0.47737	D	0.9995	P	0.37688	0.605	P	0.51453	0.67	T	0.02766	-1.1113	9	.	.	.	-22.9503	17.5711	0.87934	0.0:0.0:1.0:0.0	.	343	Q6GQQ9	OTU7B_HUMAN	R	343	ENSP00000358131:S343R;ENSP00000408231:S343R	.	S	-	3	2	OTUD7B	148188250	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.955000	0.70306	2.633000	0.89246	0.591000	0.81541	AGC	OTUD7B	-	pfam_OTU,pfscan_OTU	ENSG00000163113		0.527	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	HGNC	protein_coding	OTTHUMT00000034146.3	-	0.00	76	0	G	NM_020205		149921626	-1	tier1	-	no_errors	ENST00000369135	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T
PAK7	57144	genome.wustl.edu	37	20	9561251	9561251	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr20:9561251G>T	ENST00000378429.3	-	5	1077	c.531C>A	c.(529-531)caC>caA	p.H177Q	RP5-986I17.2_ENST00000428769.1_RNA|PAK7_ENST00000353224.5_Missense_Mutation_p.H177Q|PAK7_ENST00000378423.1_Missense_Mutation_p.H177Q	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	177	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.H177H(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGGCCTCCCCGTGCTTCATTT	0.458																																																	1	Substitution - coding silent(1)	large_intestine(1)											141.0	136.0	137.0					20																	9561251		2203	4300	6503	SO:0001583	missense	0			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.531C>A	20.37:g.9561251G>T	ENSP00000367686:p.His177Gln		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.H177Q	ENST00000378429.3	37	c.531	CCDS13107.1	20	.	.	.	.	.	.	.	.	.	.	G	0.687	-0.796140	0.02862	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.40476	1.03;1.03;1.03	5.55	-4.84	0.03151	.	0.669515	0.16349	N	0.218320	T	0.21347	0.0514	N	0.22421	0.69	0.09310	N	0.999996	B;B	0.21309	0.054;0.054	B;B	0.21708	0.036;0.036	T	0.22068	-1.0227	9	.	.	.	.	8.3065	0.32045	0.4544:0.0972:0.4485:0.0	.	177;177	B0AZM9;Q9P286	.;PAK7_HUMAN	Q	177;177;177;125	ENSP00000367686:H177Q;ENSP00000322957:H177Q;ENSP00000367679:H177Q	.	H	-	3	2	PAK7	9509251	0.000000	0.05858	0.303000	0.25071	0.354000	0.29330	-1.310000	0.02725	-0.498000	0.06632	-0.277000	0.10078	CAC	PAK7	-	NULL	ENSG00000101349		0.458	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK7	HGNC	protein_coding	OTTHUMT00000077962.1	-	0.00	44	0	G			9561251	-1	tier1	-	no_errors	ENST00000353224	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.301	T
PARK2	5071	genome.wustl.edu	37	6	161969885	161969885	+	Splice_Site	SNP	C	C	T	rs111546299	byFrequency	TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:161969885C>T	ENST00000366898.1	-	9	1186		c.e9+1		PARK2_ENST00000366897.1_Splice_Site|PARK2_ENST00000366892.1_Splice_Site|PARK2_ENST00000338468.3_Splice_Site|PARK2_ENST00000366894.1_Splice_Site|PARK2_ENST00000366896.1_Splice_Site	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase						adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GCAGTACTCACCCCACAGCCC	0.567																																																	0													87.0	95.0	92.0					6																	161969885		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.1083+1G>A	6.37:g.161969885C>T			A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Splice_Site	SNP	-	e9+1	ENST00000366898.1	37	c.1083+1	CCDS5281.1	6	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825248	0.90955	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0673	0.89395	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PARK2	161889875	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.751000	0.68720	2.689000	0.91719	0.650000	0.86243	.	PARK2	-	-	ENSG00000185345		0.567	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PARK2	HGNC	protein_coding	OTTHUMT00000042995.1	-	0.00	42	0	C		Intron	161969885	-1	tier1	rs111546299	no_errors	ENST00000366898	ensembl	human	known	74_37	splice_site	6.90	54	4	SNP	1.000	T
PARP1	142	genome.wustl.edu	37	1	226553715	226553715	+	Missense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:226553715C>A	ENST00000366794.5	-	18	2588	c.2445G>T	c.(2443-2445)agG>agT	p.R815S	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	815	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TAACATACTTCCTGATGATCT	0.458								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																									0													182.0	135.0	151.0					1																	226553715		2203	4300	6503	SO:0001583	missense	0			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2445G>T	1.37:g.226553715C>A	ENSP00000355759:p.Arg815Ser		B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.R815S	ENST00000366794.5	37	c.2445	CCDS1554.1	1	.	.	.	.	.	.	.	.	.	.	C	6.904	0.536313	0.13188	.	.	ENSG00000143799	ENST00000366794	T	0.13196	2.61	5.68	3.83	0.44106	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.201380	0.48767	D	0.000168	T	0.04952	0.0133	N	0.04043	-0.29	0.80722	D	1	B	0.14805	0.011	B	0.15870	0.014	T	0.32903	-0.9889	10	0.12103	T	0.63	.	5.39	0.16240	0.142:0.6243:0.0:0.2337	.	815	P09874	PARP1_HUMAN	S	815	ENSP00000355759:R815S	ENSP00000355759:R815S	R	-	3	2	PARP1	224620338	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.592000	0.23984	0.776000	0.33473	-0.142000	0.14014	AGG	PARP1	-	pfam_Poly(ADP-ribose)pol_cat_dom,pirsf_NAD_ADPRT,pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000143799		0.458	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP1	HGNC	protein_coding	OTTHUMT00000091519.1	-	0.00	60	0	C	NM_001618		226553715	-1	tier1	-	no_errors	ENST00000366794	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.995	A
PCDH15	65217	genome.wustl.edu	37	10	55626441	55626441	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:55626441G>T	ENST00000320301.6	-	27	4072	c.3678C>A	c.(3676-3678)gaC>gaA	p.D1226E	PCDH15_ENST00000395432.2_Missense_Mutation_p.D1189E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.D1233E|PCDH15_ENST00000414778.1_Missense_Mutation_p.D1231E|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1204E|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Missense_Mutation_p.D1233E|PCDH15_ENST00000409834.1_Missense_Mutation_p.D837E|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1226E|PCDH15_ENST00000395438.1_Missense_Mutation_p.D1226E|PCDH15_ENST00000437009.1_Missense_Mutation_p.D1155E|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.D1226E|PCDH15_ENST00000373957.3_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1226	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCCATAGTCGTCAGTTGCAA	0.413										HNSCC(58;0.16)																																							0													127.0	109.0	115.0					10																	55626441		2203	4300	6503	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3678C>A	10.37:g.55626441G>T	ENSP00000322604:p.Asp1226Glu		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D1226E	ENST00000320301.6	37	c.3678	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724194	0.68959	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	5.47	-2.71	0.05986	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.88280	0.6394	M	0.83692	2.655	0.52501	D	0.99995	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D	0.87899	0.2689	9	0.87932	D	0	.	13.1107	0.59270	0.6153:0.0:0.3847:0.0	.	1204;1226;1226;1231;1155;1189;1226;1226;1233;1233;1226;1231;1226	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	E	1233;1231;1226;1226;837;1233;1189;1226;1204;1226;1226;1231;1155	ENSP00000363076:D1233E;ENSP00000410304:D1231E;ENSP00000378826:D1226E;ENSP00000386693:D837E;ENSP00000378832:D1233E;ENSP00000378820:D1189E;ENSP00000354950:D1226E;ENSP00000378821:D1204E;ENSP00000322604:D1226E;ENSP00000378818:D1226E;ENSP00000412628:D1155E	ENSP00000322604:D1226E	D	-	3	2	PCDH15	55296447	0.001000	0.12720	0.711000	0.30485	0.937000	0.57800	-0.370000	0.07523	-0.423000	0.07394	-0.253000	0.11424	GAC	PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000150275		0.413	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2		0.00	52	0	G	NM_033056		55626441	-1			no_errors	ENST00000320301	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.851	T
PCDHGA5	56110	genome.wustl.edu	37	5	140746060	140746060	+	Silent	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:140746060G>A	ENST00000518069.1	+	1	2163	c.2163G>A	c.(2161-2163)aaG>aaA	p.K721K	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	721					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGCACAAGTCACGCCTGC	0.617																																																	0													107.0	119.0	115.0					5																	140746060		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.2163G>A	5.37:g.140746060G>A			Q2M3F5|Q9Y5D2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K721	ENST00000518069.1	37	c.2163	CCDS54925.1	5																																																																																			PCDHGA5	-	NULL	ENSG00000253485		0.617	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	-	0.00	66	0	G	NM_018918		140746060	+1	tier1	-	no_errors	ENST00000518069	ensembl	human	known	74_37	silent	54.72	24	29	SNP	0.000	A
PCNXL2	80003	genome.wustl.edu	37	1	233134179	233134179	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:233134179C>T	ENST00000258229.9	-	32	5843	c.5609G>A	c.(5608-5610)cGg>cAg	p.R1870Q	PCNXL2_ENST00000344698.2_Missense_Mutation_p.R522Q	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1870						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCAATCCTTCCGCATCCTGTG	0.582																																																	0													47.0	47.0	47.0					1																	233134179		1976	4164	6140	SO:0001583	missense	0			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5609G>A	1.37:g.233134179C>T	ENSP00000258229:p.Arg1870Gln		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Trypsin-like_Pept_dom	p.R1870Q	ENST00000258229.9	37	c.5609	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718565	0.89205	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.26810	1.71;2.85	5.65	3.75	0.43078	.	0.106968	0.64402	D	0.000009	T	0.28200	0.0696	L	0.41906	1.305	0.80722	D	1	D;D	0.61697	0.987;0.99	P;P	0.50405	0.64;0.496	T	0.02885	-1.1098	10	0.54805	T	0.06	.	10.6376	0.45573	0.1338:0.7976:0.0:0.0686	.	1870;522	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	Q	522;1870	ENSP00000340759:R522Q;ENSP00000258229:R1870Q	ENSP00000258229:R1870Q	R	-	2	0	PCNXL2	231200802	0.993000	0.37304	0.972000	0.41901	0.664000	0.39144	3.054000	0.49908	1.514000	0.48869	0.563000	0.77884	CGG	PCNXL2	-	NULL	ENSG00000135749		0.582	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	-	0.00	31	0	C	NM_014801		233134179	-1	tier1	-	no_errors	ENST00000258229	ensembl	human	known	74_37	missense	38.89	22	14	SNP	1.000	T
PDGFRB	5159	genome.wustl.edu	37	5	149502666	149502666	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:149502666G>T	ENST00000261799.4	-	15	2591	c.2122C>A	c.(2122-2124)Cgc>Agc	p.R708S		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	708	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGCGGGCGGCGCTTGTCGGAG	0.612			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																			Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	0													113.0	105.0	108.0					5																	149502666		2203	4300	6503	SO:0001583	missense	0			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2122C>A	5.37:g.149502666G>T	ENSP00000261799:p.Arg708Ser		B5A957|Q8N5L4	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R708S	ENST00000261799.4	37	c.2122	CCDS4303.1	5	.	.	.	.	.	.	.	.	.	.	G	6.516	0.463337	0.12402	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.75050	-0.9	3.41	2.52	0.30459	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.488214	0.17076	N	0.187992	T	0.54303	0.1850	N	0.25286	0.73	0.27577	N	0.949714	B;B	0.19331	0.003;0.035	B;B	0.18561	0.022;0.017	T	0.35351	-0.9792	10	0.09084	T	0.74	.	8.666	0.34121	0.0:0.2351:0.7649:0.0	.	708;708	A8KAM8;P09619	.;PGFRB_HUMAN	S	708;378	ENSP00000261799:R708S	ENSP00000261799:R708S	R	-	1	0	PDGFRB	149482859	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	2.397000	0.44477	0.978000	0.38470	0.462000	0.41574	CGC	PDGFRB	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,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	ENSG00000113721		0.612	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRB	HGNC	protein_coding	OTTHUMT00000252332.1	-	0.00	59	0	G	NM_002609		149502666	-1	tier1	-	no_errors	ENST00000261799	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T
PFAS	5198	genome.wustl.edu	37	17	8167164	8167164	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:8167164G>T	ENST00000314666.6	+	15	1834	c.1701G>T	c.(1699-1701)ctG>ctT	p.L567L	PFAS_ENST00000545834.1_Silent_p.L143L|PFAS_ENST00000585319.1_3'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	567					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)	p.L567L(1)		central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CTCTTCTGCTGAGGTCCCCCA	0.602																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											75.0	76.0	76.0					17																	8167164		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1701G>T	17.37:g.8167164G>T			A6H8V8	Silent	SNP	pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth	p.L567	ENST00000314666.6	37	c.1701	CCDS11136.1	17																																																																																			PFAS	-	pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth	ENSG00000178921		0.602	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFAS	HGNC	protein_coding	OTTHUMT00000226994.2		0.00	39	0	G			8167164	+1			no_errors	ENST00000314666	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.971	T
PHLDB1	23187	genome.wustl.edu	37	11	118528122	118528122	+	3'UTR	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:118528122G>T	ENST00000361417.2	+	0	5134				PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_3'UTR|TREH_ENST00000529101.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1											breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACTAATTGCTGCAGCTCTGTG	0.562																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.*589G>T	11.37:g.118528122G>T			B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	RNA	SNP	-	NULL	ENST00000361417.2	37	NULL	CCDS8401.1	11																																																																																			PHLDB1	-	-	ENSG00000019144		0.562	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB1	HGNC	protein_coding	OTTHUMT00000389279.1	-	0.00	51	0	G	NM_015157		118528122	+1	tier1	-	no_errors	ENST00000534140	ensembl	human	known	74_37	rna	10.26	35	4	SNP	0.000	T
PI4KAP2	375133	genome.wustl.edu	37	22	21834234	21834234	+	RNA	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr22:21834234C>A	ENST00000450651.1	-	0	1162							A4QPH2	PI4P2_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2						phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(3)|urinary_tract(1)	4						CATCGGGGTCCCAGACTTGTA	0.612																																																	0													107.0	99.0	102.0					22																	21834234		692	1584	2276			0					22q11.21	2014-03-20	2007-08-14		ENSG00000183506	ENSG00000183506			33577	pseudogene	pseudogene							Standard	NR_003700		Approved		uc011aie.1	A4QPH2	OTTHUMG00000150827		22.37:g.21834234C>A			Q6ICJ0|Q6ZT68|Q8WUK7	RNA	SNP	-	NULL	ENST00000450651.1	37	NULL		22																																																																																			PI4KAP2	-	-	ENSG00000183506		0.612	PI4KAP2-005	KNOWN	basic	processed_transcript	PI4KAP2	HGNC	pseudogene	OTTHUMT00000334908.1		0.00	70	0	C			21834234	-1			no_errors	ENST00000450651	ensembl	human	known	74_37	rna	7.55	48	4	SNP	1.000	A
PIGQ	9091	genome.wustl.edu	37	16	632904	632904	+	Missense_Mutation	SNP	C	C	A	rs147312685	byFrequency	TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:632904C>A	ENST00000026218.5	+	10	1641	c.1553C>A	c.(1552-1554)cCg>cAg	p.P518Q	PIGQ_ENST00000409527.2_Missense_Mutation_p.R539S|PIGQ_ENST00000321878.5_Missense_Mutation_p.R539S	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	518	Leu-rich.				C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCCCTACAGCCGCGTGGTGCA	0.662																																																	0													97.0	106.0	103.0					16																	632904		2201	4300	6501	SO:0001583	missense	0			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1553C>A	16.37:g.632904C>A	ENSP00000026218:p.Pro518Gln		A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	pfam_GlcNAc_Gpi1	p.P518Q	ENST00000026218.5	37	c.1553	CCDS10411.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.264|1.264	-0.615031|-0.615031	0.03663|0.03663	.|.	.|.	ENSG00000007541|ENSG00000007541	ENST00000026218|ENST00000409527;ENST00000321878;ENST00000540241	T|T;T	0.18016|0.40225	2.24|1.04;1.04	5.34|5.34	3.19|3.19	0.36642|0.36642	.|.	0.549745|.	0.13751|.	U|.	0.365249|.	T|T	0.19208|0.19208	0.0461|0.0461	N|N	0.08118|0.08118	0|0	0.23602|0.23602	N|N	0.99731|0.99731	P;B|B	0.47841|0.09022	0.901;0.028|0.002	P;B|B	0.46510|0.06405	0.519;0.016|0.002	T|T	0.23868|0.23868	-1.0176|-1.0176	10|9	0.23891|0.09590	T|T	0.37|0.72	-22.8373|-22.8373	7.3361|7.3361	0.26611|0.26611	0.4525:0.4157:0.1318:0.0|0.4525:0.4157:0.1318:0.0	.|.	88;518|539	B3KRR7;Q9BRB3|Q9BRB3-2	.;PIGQ_HUMAN|.	Q|S	518|539;539;97	ENSP00000026218:P518Q|ENSP00000386760:R539S;ENSP00000326674:R539S	ENSP00000026218:P518Q|ENSP00000326674:R539S	P|R	+|+	2|1	0|0	PIGQ|PIGQ	572905|572905	0.000000|0.000000	0.05858|0.05858	0.018000|0.018000	0.16275|0.16275	0.640000|0.640000	0.38277|0.38277	0.286000|0.286000	0.18902|0.18902	1.218000|1.218000	0.43458|0.43458	0.462000|0.462000	0.41574|0.41574	CCG|CGC	PIGQ	-	NULL	ENSG00000007541		0.662	PIGQ-002	KNOWN	basic|CCDS	protein_coding	PIGQ	HGNC	protein_coding	OTTHUMT00000239270.2		0.00	86	0	C	NM_004204		632904	+1			no_errors	ENST00000026218	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.101	A
PITRM1	10531	genome.wustl.edu	37	10	3185873	3185873	+	Intron	SNP	G	G	C	rs74112931	byFrequency	TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:3185873G>C	ENST00000224949.4	-	23	2567				PITRM1_ENST00000380989.2_Intron|PITRM1_ENST00000451104.2_Intron|PITRM1_ENST00000380994.1_Intron|PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1						positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GCTGGGGCGCGAGAGCAAGGC	0.572																																																	0																																										SO:0001627	intron_variant	0			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2533-180C>G	10.37:g.3185873G>C			B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	RNA	SNP	-	NULL	ENST00000224949.4	37	NULL	CCDS59208.1	10																																																																																			PITRM1	-	-	ENSG00000107959		0.572	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITRM1	HGNC	protein_coding	OTTHUMT00000046469.2	-	0.00	39	0	G			3185873	-1	tier1	-	no_errors	ENST00000464395	ensembl	human	known	74_37	rna	37.78	28	17	SNP	0.000	C
PKD1	5310	genome.wustl.edu	37	16	2161499	2161499	+	Silent	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:2161499C>A	ENST00000262304.4	-	15	3877	c.3669G>T	c.(3667-3669)gtG>gtT	p.V1223V	PKD1_ENST00000423118.1_Silent_p.V1223V|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1223	PKD 7. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGCCCTGCTCCACGGCCAGGC	0.706																																																	0													14.0	13.0	13.0					16																	2161499		2153	4201	6354	SO:0001819	synonymous_variant	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3669G>T	16.37:g.2161499C>A			Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.V1223	ENST00000262304.4	37	c.3669	CCDS32369.1	16																																																																																			PKD1	-	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,tigrfam_Polycystin_cat	ENSG00000008710		0.706	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	-	0.00	118	0	C			2161499	-1	tier1	-	no_errors	ENST00000262304	ensembl	human	known	74_37	silent	9.80	46	5	SNP	0.712	A
PLCH1	23007	genome.wustl.edu	37	3	155200038	155200038	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:155200038G>T	ENST00000340059.7	-	23	3800	c.3801C>A	c.(3799-3801)acC>acA	p.T1267T	PLCH1_ENST00000414191.1_Silent_p.T1229T|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Silent_p.T1229T|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Silent_p.T1229T	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1267					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTGCATGTTTGGTGGTCTCAG	0.458																																																	0													158.0	156.0	157.0					3																	155200038		2203	4300	6503	SO:0001819	synonymous_variant	0			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3801C>A	3.37:g.155200038G>T			Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.T1267	ENST00000340059.7	37	c.3801	CCDS46939.1	3																																																																																			PLCH1	-	NULL	ENSG00000114805		0.458	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	-	0.00	40	0	G	NM_014996		155200038	-1	tier1	-	no_errors	ENST00000340059	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.129	T
PLD2	5338	genome.wustl.edu	37	17	4720301	4720301	+	Missense_Mutation	SNP	C	C	A	rs372741803		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:4720301C>A	ENST00000263088.6	+	16	1783	c.1652C>A	c.(1651-1653)cCg>cAg	p.P551Q	PLD2_ENST00000572940.1_Missense_Mutation_p.P551Q	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	551	Catalytic.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CATGGCCTACCGGCCCGGGAC	0.637																																																	0													63.0	62.0	63.0					17																	4720301		2203	4300	6503	SO:0001583	missense	0			AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.1652C>A	17.37:g.4720301C>A	ENSP00000263088:p.Pro551Gln		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.P551Q	ENST00000263088.6	37	c.1652	CCDS11057.1	17	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822694	0.71028	.	.	ENSG00000129219	ENST00000263088	T	0.21932	1.98	5.24	5.24	0.73138	.	0.170558	0.50627	D	0.000120	T	0.37571	0.1008	M	0.82823	2.61	0.39836	D	0.973044	B;P;B	0.40083	0.393;0.702;0.448	B;P;B	0.44597	0.066;0.454;0.18	T	0.43065	-0.9414	10	0.62326	D	0.03	-5.6358	16.2922	0.82757	0.0:1.0:0.0:0.0	.	408;551;551	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	Q	551	ENSP00000263088:P551Q	ENSP00000263088:P551Q	P	+	2	0	PLD2	4667267	0.998000	0.40836	0.017000	0.16124	0.577000	0.36160	7.423000	0.80229	2.444000	0.82710	0.561000	0.74099	CCG	PLD2	-	pirsf_PLipase_D_euk	ENSG00000129219		0.637	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD2	HGNC	protein_coding	OTTHUMT00000207561.3	-	0.00	60	0	C	NM_002663		4720301	+1	tier1	-	no_errors	ENST00000263088	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.730	A
PLEKHA4	57664	genome.wustl.edu	37	19	49362117	49362117	+	Splice_Site	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:49362117C>A	ENST00000263265.6	-	8	1527	c.972G>T	c.(970-972)caG>caT	p.Q324H	PLEKHA4_ENST00000596713.1_Intron|PLEKHA4_ENST00000355496.5_Splice_Site_p.Q324H	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	324	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CTCTGCTCACCTGTGTTCTGG	0.622																																																	0													101.0	107.0	105.0					19																	49362117		2180	4236	6416	SO:0001630	splice_region_variant	0			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.972+1G>T	19.37:g.49362117C>A			Q8N4M8|Q8N658	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q324H	ENST00000263265.6	37	c.972	CCDS12737.1	19	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741290	0.69304	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.15256	3.14;2.44	5.21	5.21	0.72293	.	1.667350	0.03559	N	0.226730	T	0.18718	0.0449	N	0.19112	0.55	0.22911	N	0.998574	P;P	0.38642	0.545;0.641	B;B	0.41236	0.351;0.259	T	0.36866	-0.9730	9	.	.	.	.	14.6345	0.68678	0.0:1.0:0.0:0.0	.	324;324	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	H	324	ENSP00000263265:Q324H;ENSP00000347683:Q324H	.	Q	-	3	2	PLEKHA4	54053929	0.998000	0.40836	0.994000	0.49952	0.985000	0.73830	1.743000	0.38258	2.618000	0.88619	0.462000	0.41574	CAG	PLEKHA4	-	NULL	ENSG00000105559		0.622	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA4	HGNC	protein_coding	OTTHUMT00000466216.1		0.00	69	0	C		Missense_Mutation	49362117	-1			no_errors	ENST00000263265	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.993	A
KIZ-AS1	101929591	genome.wustl.edu	37	20	21195194	21195194	+	RNA	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr20:21195194G>T	ENST00000591761.1	-	0	119				RP4-777D9.2_ENST00000443753.1_RNA|RP4-777D9.2_ENST00000433213.2_RNA|PLK1S1_ENST00000457464.1_RNA																							ATTGAGAAAAGCCCTTACAGA	0.398																																																	0													63.0	61.0	61.0					20																	21195194		1852	4097	5949			0																															20.37:g.21195194G>T				RNA	SNP	-	NULL	ENST00000591761.1	37	NULL		20																																																																																			PLK1S1	-	-	ENSG00000088970		0.398	RP4-777D9.2-002	KNOWN	basic	antisense	PLK1S1	HGNC	antisense	OTTHUMT00000078258.2	-	0.00	65	0	G			21195194	+1	tier1	-	no_errors	ENST00000246027	ensembl	human	known	74_37	rna	6.56	57	4	SNP	0.338	T
PLXNA2	5362	genome.wustl.edu	37	1	208217916	208217916	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:208217916G>T	ENST00000367033.3	-	20	4568	c.3811C>A	c.(3811-3813)Ctc>Atc	p.L1271I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1271					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGCCGCTTGAGAGTGAGGTCA	0.562																																																	0													114.0	91.0	99.0					1																	208217916		2203	4300	6503	SO:0001583	missense	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3811C>A	1.37:g.208217916G>T	ENSP00000356000:p.Leu1271Ile		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.L1271I	ENST00000367033.3	37	c.3811	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.649839	0.87958	.	.	ENSG00000076356	ENST00000367033	T	0.00976	5.48	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.07098	0.0180	M	0.84846	2.72	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.03212	-1.1060	10	0.72032	D	0.01	.	18.2148	0.89881	0.0:0.0:1.0:0.0	.	1271	O75051	PLXA2_HUMAN	I	1271	ENSP00000356000:L1271I	ENSP00000356000:L1271I	L	-	1	0	PLXNA2	206284539	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.576000	0.82467	2.281000	0.76405	0.467000	0.42956	CTC	PLXNA2	-	NULL	ENSG00000076356		0.562	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	-	0.00	35	0	G	NM_025179		208217916	-1	tier1	-	no_errors	ENST00000367033	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T
PLXNC1	10154	genome.wustl.edu	37	12	94653258	94653258	+	Intron	DEL	T	T	-			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:94653258delT	ENST00000258526.4	+	18	3375				PLXNC1_ENST00000551495.1_3'UTR|PLXNC1_ENST00000547057.1_Intron	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTATTGTGGGTTTTTTTTGGA	0.289																																																	0																																										SO:0001627	intron_variant	0			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3126+107T>-	12.37:g.94653258delT			Q59H25	RNA	DEL	-	NULL	ENST00000258526.4	37	NULL	CCDS9049.1	12																																																																																			PLXNC1	-	-	ENSG00000136040		0.289	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2		0.00	59	0	T			94653258	+1	tier1		no_errors	ENST00000551495	ensembl	human	known	74_37	rna	28.79	47	19	DEL	0.863	-
PNPLA1	285848	genome.wustl.edu	37	6	36238358	36238358	+	Missense_Mutation	SNP	G	G	A	rs371743068		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:36238358G>A	ENST00000394571.2	+	1	122	c.122G>A	c.(121-123)cGg>cAg	p.R41Q	PNPLA1_ENST00000388715.3_Intron|PNPLA1_ENST00000312917.5_Intron	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	41	Patatin.				lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CTGGCCCCCCGGATGCTGGAA	0.662																																																	0													17.0	22.0	20.0					6																	36238358		692	1591	2283	SO:0001583	missense	0				CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.122G>A	6.37:g.36238358G>A	ENSP00000378072:p.Arg41Gln		A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.R41Q	ENST00000394571.2	37	c.122	CCDS54997.1	6	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077725	0.76528	.	.	ENSG00000180316	ENST00000457797;ENST00000394571	T;T	0.80214	-1.35;-1.35	4.42	3.53	0.40419	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.150937	0.27147	U	0.020715	T	0.61375	0.2342	N	0.17474	0.49	0.26737	N	0.970477	D	0.67145	0.996	D	0.63381	0.914	T	0.54221	-0.8326	10	0.12766	T	0.61	-15.4586	5.9229	0.19093	0.2217:0.0:0.7783:0.0	.	41	Q8N8W4	PLPL1_HUMAN	Q	41	ENSP00000391868:R41Q;ENSP00000378072:R41Q	ENSP00000378072:R41Q	R	+	2	0	PNPLA1	36346336	0.991000	0.36638	1.000000	0.80357	0.971000	0.66376	2.865000	0.48412	2.023000	0.59567	0.467000	0.42956	CGG	PNPLA1	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	ENSG00000180316		0.662	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA1	HGNC	protein_coding		-	0.00	85	0	G	NM_173676		36238358	+1	tier1	-	no_errors	ENST00000457797	ensembl	human	known	74_37	missense	69.75	48	113	SNP	0.999	A
PODXL	5420	genome.wustl.edu	37	7	131191444	131191444	+	Silent	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:131191444G>A	ENST00000378555.3	-	6	1390	c.1143C>T	c.(1141-1143)tgC>tgT	p.C381C	PODXL_ENST00000541194.1_Silent_p.C383C|PODXL_ENST00000322985.9_Silent_p.C349C|PODXL_ENST00000537928.1_Silent_p.C349C			O00592	PODXL_HUMAN	podocalyxin-like	381					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TGACTGCTCGGCATATCAGTG	0.577											OREG0018320	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													145.0	134.0	138.0					7																	131191444		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1143C>T	7.37:g.131191444G>A		1585	A6NHX8|Q52LZ7|Q53ER6	Silent	SNP	pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1	p.C383	ENST00000378555.3	37	c.1149	CCDS34755.1	7																																																																																			PODXL	-	pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1	ENSG00000128567		0.577	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PODXL	HGNC	protein_coding	OTTHUMT00000337627.2	-	0.00	59	0	G	NM_001018111		131191444	-1	tier1	-	no_errors	ENST00000541194	ensembl	human	known	74_37	silent	7.55	48	4	SNP	0.633	A
POF1B	79983	genome.wustl.edu	37	X	84563182	84563182	+	Missense_Mutation	SNP	G	G	C			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chrX:84563182G>C	ENST00000262753.4	-	10	1143	c.998C>G	c.(997-999)tCc>tGc	p.S333C	POF1B_ENST00000373145.3_Missense_Mutation_p.S333C	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	333						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GCTAAATGTGGACAGCACTAG	0.358																																																	0													95.0	82.0	87.0					X																	84563182		2203	4300	6503	SO:0001583	missense	0			BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.998C>G	X.37:g.84563182G>C	ENSP00000262753:p.Ser333Cys		A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	NULL	p.S333C	ENST00000262753.4	37	c.998	CCDS14452.1	X	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561149	0.65538	.	.	ENSG00000124429	ENST00000262753;ENST00000373145	T;T	0.15603	2.41;2.41	5.86	5.86	0.93980	.	0.153022	0.64402	D	0.000010	T	0.36468	0.0968	L	0.55481	1.735	0.36512	D	0.869678	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.38499	-0.9658	10	0.87932	D	0	3.4256	12.8266	0.57723	0.0:0.0:0.8368:0.1632	.	333;333	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	C	333	ENSP00000262753:S333C;ENSP00000362238:S333C	ENSP00000262753:S333C	S	-	2	0	POF1B	84449838	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	3.860000	0.55995	2.471000	0.83476	0.600000	0.82982	TCC	POF1B	-	NULL	ENSG00000124429		0.358	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POF1B	HGNC	protein_coding	OTTHUMT00000057391.2	-	0.00	77	0	G	NM_024921		84563182	-1	tier1	-	no_errors	ENST00000373145	ensembl	human	known	74_37	missense	78.48	16	62	SNP	0.997	C
POLE	5426	genome.wustl.edu	37	12	133244227	133244227	+	Silent	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:133244227G>A	ENST00000320574.5	-	20	2224	c.2181C>T	c.(2179-2181)tgC>tgT	p.C727C	POLE_ENST00000535270.1_Silent_p.C700C	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	727					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	AGGCTTTCCGGCAGTAATCTA	0.572								DNA polymerases (catalytic subunits)																																									0													265.0	219.0	234.0					12																	133244227		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2181C>T	12.37:g.133244227G>A			Q13533|Q86VH9	Silent	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.C727	ENST00000320574.5	37	c.2181	CCDS9278.1	12																																																																																			POLE	-	pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B	ENSG00000177084		0.572	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2		0.00	29	0	G	NM_006231		133244227	-1			no_errors	ENST00000320574	ensembl	human	known	74_37	silent	7.69	36	3	SNP	1.000	A
POLQ	10721	genome.wustl.edu	37	3	121230739	121230739	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:121230739G>T	ENST00000264233.5	-	10	1734	c.1606C>A	c.(1606-1608)Ctg>Atg	p.L536M		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	536	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTTACCTCCAGAATAGCTCGT	0.353								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													108.0	105.0	106.0					3																	121230739		2203	4300	6503	SO:0001583	missense	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.1606C>A	3.37:g.121230739G>T	ENSP00000264233:p.Leu536Met		O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.L536M	ENST00000264233.5	37	c.1606	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749883	0.69533	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.58210	0.35	5.32	2.54	0.30619	Helicase, C-terminal (1);	0.171732	0.39020	N	0.001499	T	0.69468	0.3114	M	0.91717	3.235	0.49798	D	0.999828	P	0.51933	0.949	P	0.54759	0.76	T	0.73949	-0.3821	10	0.87932	D	0	.	9.8229	0.40894	0.2221:0.0:0.7779:0.0	.	536	O75417	DPOLQ_HUMAN	M	159;536;672	ENSP00000264233:L536M	ENSP00000264233:L536M	L	-	1	2	POLQ	122713429	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.016000	0.49607	0.608000	0.30000	0.455000	0.32223	CTG	POLQ	-	pfscan_Helicase_C	ENSG00000051341		0.353	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1		0.00	39	0	G	NM_199420		121230739	-1			no_errors	ENST00000264233	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	T
POLQ	10721	genome.wustl.edu	37	3	121230840	121230840	+	Nonsense_Mutation	SNP	G	G	C			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:121230840G>C	ENST00000264233.5	-	10	1633	c.1505C>G	c.(1504-1506)tCa>tGa	p.S502*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	502	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TATGCCTTTTGATTTCTCAGA	0.398								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													72.0	70.0	71.0					3																	121230840		2203	4299	6502	SO:0001587	stop_gained	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.1505C>G	3.37:g.121230840G>C	ENSP00000264233:p.Ser502*		O95160|Q6VMB5	Nonsense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.S502*	ENST00000264233.5	37	c.1505	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	39	7.552818	0.98355	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	.	.	.	5.33	5.33	0.75918	.	0.643267	0.16035	N	0.232698	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	19.0019	0.92837	0.0:0.0:1.0:0.0	.	.	.	.	X	125;502;638	.	ENSP00000264233:S502X	S	-	2	0	POLQ	122713530	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.711000	0.61881	2.463000	0.83235	0.462000	0.41574	TCA	POLQ	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000051341		0.398	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	-	0.00	47	0	G	NM_199420		121230840	-1	tier1	-	no_errors	ENST00000264233	ensembl	human	known	74_37	nonsense	25.45	41	14	SNP	1.000	C
POTEH	23784	genome.wustl.edu	37	22	16279279	16279279	+	Missense_Mutation	SNP	A	A	C			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr22:16279279A>C	ENST00000343518.6	-	4	995	c.944T>G	c.(943-945)cTt>cGt	p.L315R	RNU6-816P_ENST00000390914.1_RNA|POTEH-AS1_ENST00000422014.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	315										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ATGTACACCAAGTAACAGTGG	0.318																																																	0																																										SO:0001583	missense	0			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.944T>G	22.37:g.16279279A>C	ENSP00000340610:p.Leu315Arg		A2CEK4|A6NCI1|A9Z1W0	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.L315R	ENST00000343518.6	37	c.944	CCDS46658.1	22	.	.	.	.	.	.	.	.	.	.	.	11.79	1.742389	0.30865	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.56275	0.47	1.38	1.38	0.22167	Ankyrin repeat-containing domain (3);	0.279276	0.18784	U	0.131260	T	0.60090	0.2242	L	0.54965	1.715	0.09310	N	0.999992	D;D	0.89917	0.997;1.0	D;D	0.91635	0.989;0.999	T	0.42344	-0.9457	10	0.45353	T	0.12	.	4.9438	0.13978	1.0:0.0:0.0:0.0	.	315;278	Q6S545;A6NKF6	POTEH_HUMAN;.	R	278;315	ENSP00000340610:L315R	ENSP00000340610:L315R	L	-	2	0	POTEH	14659279	0.737000	0.28175	0.294000	0.24946	0.068000	0.16541	3.904000	0.56325	0.890000	0.36211	0.147000	0.16070	CTT	POTEH	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000198062		0.318	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEH	HGNC	protein_coding	OTTHUMT00000276918.4	-	0.00	922	0	A	NM_001136213		16279279	-1	tier1	-	no_errors	ENST00000343518	ensembl	human	known	74_37	missense	10.09	722	81	SNP	0.103	C
POU5F1B	5462	genome.wustl.edu	37	8	128428573	128428573	+	Silent	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr8:128428573G>A	ENST00000465342.2	+	2	1619	c.462G>A	c.(460-462)aaG>aaA	p.K154K	CASC8_ENST00000501396.1_RNA|POU5F1B_ENST00000391675.1_Silent_p.K154K|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000502082.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	154	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						AGCTCCTGAAGCAGAAGAGGA	0.527																																																	0													28.0	39.0	35.0					8																	128428573		692	1591	2283	SO:0001819	synonymous_variant	0			AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"""Homeoboxes / POU class"""	9223	protein-coding gene	gene with protein product		615739	"""POU domain class 5, transcription factor 1 pseudogene 1"", ""POU class 5 homeobox 1 pseudogene 1"""	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.462G>A	8.37:g.128428573G>A			D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Silent	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.K154	ENST00000465342.2	37	c.462	CCDS55274.1	8																																																																																			POU5F1B	-	pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific	ENSG00000212993		0.527	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F1B	HGNC	protein_coding	OTTHUMT00000349649.2	-	0.00	60	0	G	NM_001159542		128428573	+1	tier1	-	no_errors	ENST00000391675	ensembl	human	known	74_37	silent	24.03	98	31	SNP	1.000	A
PPFIBP2	8495	genome.wustl.edu	37	11	7631633	7631633	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:7631633G>T	ENST00000299492.4	+	6	986	c.598G>T	c.(598-600)Gag>Tag	p.E200*	PPFIBP2_ENST00000528883.1_Nonsense_Mutation_p.E88*|PPFIBP2_ENST00000533792.1_Nonsense_Mutation_p.E42*|PPFIBP2_ENST00000530181.1_Nonsense_Mutation_p.E57*	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	200					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)	p.E200*(1)		breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AGAGCAGGAGGAGAAGCAGAG	0.512																																																	1	Substitution - Nonsense(1)	large_intestine(1)											258.0	250.0	252.0					11																	7631633		2201	4296	6497	SO:0001587	stop_gained	0			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.598G>T	11.37:g.7631633G>T	ENSP00000299492:p.Glu200*		B7Z433|E9PK77|O75337|Q8WW26	Nonsense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E200*	ENST00000299492.4	37	c.598	CCDS31419.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.288627	0.97444	.	.	ENSG00000166387	ENST00000299492;ENST00000529575;ENST00000533792;ENST00000525597;ENST00000537467;ENST00000541115;ENST00000528883;ENST00000530181	.	.	.	5.79	5.79	0.91817	.	0.071509	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-24.1382	17.5252	0.87798	0.0:0.0:1.0:0.0	.	.	.	.	X	200;42;42;42;42;123;88;57	.	ENSP00000299492:E200X	E	+	1	0	PPFIBP2	7588209	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	6.187000	0.72039	2.746000	0.94184	0.655000	0.94253	GAG	PPFIBP2	-	pfam_Integrase_Tn916-type_DNA-bd_N	ENSG00000166387		0.512	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIBP2	HGNC	protein_coding	OTTHUMT00000385345.2		0.00	57	0	G	NM_003621		7631633	+1			no_errors	ENST00000299492	ensembl	human	known	74_37	nonsense	5.77	49	3	SNP	1.000	T
PPIP5K1	9677	genome.wustl.edu	37	15	43851030	43851030	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:43851030G>T	ENST00000396923.3	-	28	3469	c.3348C>A	c.(3346-3348)tgC>tgA	p.C1116*	PPIP5K1_ENST00000334933.4_Nonsense_Mutation_p.C1091*|PPIP5K1_ENST00000360135.4_Nonsense_Mutation_p.C1049*|PPIP5K1_ENST00000381885.1_Nonsense_Mutation_p.C1112*|PPIP5K1_ENST00000420765.1_Nonsense_Mutation_p.C1116*|PPIP5K1_ENST00000381879.4_Nonsense_Mutation_p.C1092*|PPIP5K1_ENST00000360301.4_Nonsense_Mutation_p.C1091*|PPIP5K1_ENST00000348806.6_Nonsense_Mutation_p.C1049*			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1116					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			large_intestine(1)	1						TGTGGCGCTGGCAGACTCTAC	0.493																																																	0													129.0	111.0	117.0					15																	43851030		2201	4298	6499	SO:0001587	stop_gained	0			AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"""histidine acid phosphatase domain containing 2A"""	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.3348C>A	15.37:g.43851030G>T	ENSP00000380129:p.Cys1116*		O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Nonsense_Mutation	SNP	pfam_His_Pase_superF_clade-2,superfamily_Cys_alpha_HP_mot_SF	p.C1116*	ENST00000396923.3	37	c.3348	CCDS45252.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.530490|6.530490	0.97641|0.97641	.|.	.|.	ENSG00000168781|ENSG00000168781	ENST00000439195|ENST00000381885;ENST00000360301;ENST00000360135;ENST00000334933;ENST00000396923;ENST00000304953;ENST00000381878;ENST00000420765;ENST00000381879;ENST00000348806	.|.	.|.	.|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.33030|.	0.0849|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33317|.	-0.9873|.	3|.	.|0.02654	.|T	.|1	-10.7309|-10.7309	12.5766|12.5766	0.56367|0.56367	0.0751:0.0:0.9249:0.0|0.0751:0.0:0.9249:0.0	.|.	.|.	.|.	.|.	D|X	196|1112;1091;1049;1091;1116;1116;1091;1116;1092;1049	.|.	.|ENSP00000304750:C1116X	A|C	-|-	2|3	0|2	PPIP5K1|PPIP5K1	41638322|41638322	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.823000|3.823000	0.55715|0.55715	2.813000|2.813000	0.96785|0.96785	0.655000|0.655000	0.94253|0.94253	GCC|TGC	PPIP5K1	-	NULL	ENSG00000168781		0.493	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PPIP5K1	HGNC	protein_coding	OTTHUMT00000132907.1		0.00	51	0	G	NM_014659		43851030	-1			no_errors	ENST00000420765	ensembl	human	known	74_37	nonsense	6.15	60	4	SNP	1.000	T
PPL	5493	genome.wustl.edu	37	16	4933515	4933515	+	Missense_Mutation	SNP	T	T	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:4933515T>A	ENST00000345988.2	-	22	5230	c.5141A>T	c.(5140-5142)aAg>aTg	p.K1714M	PPL_ENST00000590782.2_Missense_Mutation_p.K1712M	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1714					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTTGCCAGACTTCCTGTCGTG	0.542																																																	0													99.0	86.0	90.0					16																	4933515		2197	4300	6497	SO:0001583	missense	0			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.5141A>T	16.37:g.4933515T>A	ENSP00000340510:p.Lys1714Met		O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.K1714M	ENST00000345988.2	37	c.5141	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	T	17.69	3.451915	0.63290	.	.	ENSG00000118898	ENST00000345988	T	0.45668	0.89	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.64832	0.2634	M	0.73217	2.22	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.68503	-0.5391	10	0.87932	D	0	.	15.955	0.79880	0.0:0.0:0.0:1.0	.	1714	O60437	PEPL_HUMAN	M	1714	ENSP00000340510:K1714M	ENSP00000340510:K1714M	K	-	2	0	PPL	4873516	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.279000	0.72620	2.181000	0.69327	0.459000	0.35465	AAG	PPL	-	smart_Plectin_repeat	ENSG00000118898		0.542	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1		0.00	14	0	T	NM_002705		4933515	-1			no_errors	ENST00000345988	ensembl	human	known	74_37	missense	46.67	8	7	SNP	1.000	A
PPP2R3A	5523	genome.wustl.edu	37	3	135721287	135721287	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:135721287G>T	ENST00000264977.3	+	2	1564	c.947G>T	c.(946-948)aGc>aTc	p.S316I	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	316					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AATATGCCTAGCTTACAACTG	0.423																																																	0													124.0	117.0	119.0					3																	135721287		2203	4300	6503	SO:0001583	missense	0			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.947G>T	3.37:g.135721287G>T	ENSP00000264977:p.Ser316Ile		A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.S316I	ENST00000264977.3	37	c.947	CCDS3087.1	3	.	.	.	.	.	.	.	.	.	.	G	6.280	0.419768	0.11928	.	.	ENSG00000073711	ENST00000264977	T	0.14144	2.53	5.34	-1.75	0.08031	.	0.351278	0.33938	N	0.004416	T	0.08802	0.0218	L	0.38175	1.15	0.09310	N	1	B	0.34103	0.437	B	0.33042	0.157	T	0.20207	-1.0282	10	0.87932	D	0	.	6.2871	0.21039	0.3128:0.2306:0.4566:0.0	.	316	Q06190	P2R3A_HUMAN	I	316	ENSP00000264977:S316I	ENSP00000264977:S316I	S	+	2	0	PPP2R3A	137203977	0.322000	0.24634	0.973000	0.42090	0.051000	0.14879	0.801000	0.27055	-0.023000	0.13963	-0.136000	0.14681	AGC	PPP2R3A	-	NULL	ENSG00000073711		0.423	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3A	HGNC	protein_coding	OTTHUMT00000357232.1	-	0.00	73	0	G	NM_002718		135721287	+1	tier1	-	no_errors	ENST00000264977	ensembl	human	known	74_37	missense	5.97	62	4	SNP	0.003	T
PRAMEF6	440561	genome.wustl.edu	37	1	13001330	13001330	+	Missense_Mutation	SNP	T	T	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:13001330T>G	ENST00000376189.1	-	3	452	c.353A>C	c.(352-354)gAa>gCa	p.E118A	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000415464.2_Missense_Mutation_p.E118A	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	118					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCATAGCTTCAGACCAAAC	0.493																																																	0													237.0	347.0	308.0					1																	13001330		1503	2697	4200	SO:0001583	missense	0				CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"""-"""	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376189.1:c.353A>C	1.37:g.13001330T>G	ENSP00000365360:p.Glu118Ala		A0AUJ9	Missense_Mutation	SNP	NULL	p.E118A	ENST00000376189.1	37	c.353	CCDS30594.1	1	.	.	.	.	.	.	.	.	.	.	.	9.624	1.134510	0.21123	.	.	ENSG00000232423	ENST00000376189;ENST00000415464;ENST00000355096	T;T;T	0.04234	3.67;3.67;3.67	1.52	0.547	0.17202	.	0.628911	0.13238	N	0.403064	T	0.11196	0.0273	L	0.47716	1.5	0.09310	N	1	D	0.67145	0.996	D	0.76071	0.987	T	0.18178	-1.0345	10	0.72032	D	0.01	.	3.7634	0.08613	0.0:0.747:0.0:0.253	.	118	Q5VXH4	PRAM6_HUMAN	A	118	ENSP00000365360:E118A;ENSP00000401281:E118A;ENSP00000347211:E118A	ENSP00000347211:E118A	E	-	2	0	PRAMEF6	12923917	0.097000	0.21791	0.017000	0.16124	0.051000	0.14879	0.132000	0.15891	0.199000	0.20427	-0.579000	0.04138	GAA	PRAMEF6	-	NULL	ENSG00000232423		0.493	PRAMEF6-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAMEF6	HGNC	protein_coding		-	0.00	254	0	T	NM_001010889		13001330	-1	tier1	-	no_errors	ENST00000355096	ensembl	human	known	74_37	missense	20.09	183	46	SNP	0.023	G
PRAMEF17	391004	genome.wustl.edu	37	1	13718575	13718575	+	Missense_Mutation	SNP	A	A	C			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:13718575A>C	ENST00000376098.4	+	3	1064	c.1038A>C	c.(1036-1038)aaA>aaC	p.K346N		NM_001099851.1	NP_001093321.1	Q5VTA0	PRA17_HUMAN	PRAME family member 17	346					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					kidney(1)|lung(2)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTAGAGAAAGTTGCTGCTA	0.542																																																	0													14.0	34.0	29.0					1																	13718575		682	2180	2862	SO:0001583	missense	0				CCDS41264.1	1p36.21	2013-01-17			ENSG00000204479	ENSG00000204479		"""-"""	29485	protein-coding gene	gene with protein product							Standard	NM_001099851		Approved	OTTHUMG00000007909	uc009vnz.1	Q5VTA0	OTTHUMG00000007909	ENST00000376098.4:c.1038A>C	1.37:g.13718575A>C	ENSP00000365266:p.Lys346Asn		B2RUU4	Missense_Mutation	SNP	NULL	p.K346N	ENST00000376098.4	37	c.1038	CCDS41264.1	1	.	.	.	.	.	.	.	.	.	.	A	10.11	1.261519	0.23051	.	.	ENSG00000204479	ENST00000376098	T	0.54675	0.56	1.09	-2.18	0.07037	.	1.188080	0.05909	N	0.631421	T	0.57666	0.2069	M	0.64567	1.98	0.09310	N	1	D	0.53619	0.961	P	0.58721	0.844	T	0.47548	-0.9109	10	0.35671	T	0.21	.	1.5454	0.02564	0.4047:0.0:0.2616:0.3337	.	346	Q5VTA0	PRA17_HUMAN	N	346	ENSP00000365266:K346N	ENSP00000365266:K346N	K	+	3	2	PRAMEF17	13591162	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	-0.071000	0.11505	-0.776000	0.04578	-0.478000	0.04885	AAA	PRAMEF17	-	NULL	ENSG00000204479		0.542	PRAMEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF17	HGNC	protein_coding	OTTHUMT00000021780.2	-	0.00	79	0	A	NM_001099851		13718575	+1	tier1	-	no_errors	ENST00000376098	ensembl	human	known	74_37	missense	68.63	32	70	SNP	0.002	C
PRIM2	5558	genome.wustl.edu	37	6	57512867	57512867	+	3'UTR	SNP	A	A	C			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:57512867A>C	ENST00000389488.2	+	0	1782				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		cagcctcccaagtagttggga	0.473																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1779A>C	6.37:g.57512867A>C			Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	RNA	SNP	-	NULL	ENST00000389488.2	37	NULL		6																																																																																			PRIM2	-	-	ENSG00000146143		0.473	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	PRIM2	HGNC	protein_coding	OTTHUMT00000043468.3	-	0.00	17	0	A	NM_000947		57512867	+1	tier1	-	no_errors	ENST00000389488	ensembl	human	known	74_37	rna	62.50	3	5	SNP	0.024	C
PRMT3	10196	genome.wustl.edu	37	11	20411325	20411325	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:20411325G>T	ENST00000331079.6	+	3	417	c.200G>T	c.(199-201)tGt>tTt	p.C67F	PRMT3_ENST00000437750.2_Missense_Mutation_p.V22L	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	67					histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						TTTTCACACTGTAAGTCTGAG	0.338																																																	0													134.0	133.0	134.0					11																	20411325		2203	4300	6503	SO:0001583	missense	0			AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"""Protein arginine methyltransferases"""	30163	protein-coding gene	gene with protein product		603190	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"""	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.200G>T	11.37:g.20411325G>T	ENSP00000331879:p.Cys67Phe		B4DUC7	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11,pfam_Arg_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.C67F	ENST00000331079.6	37	c.200	CCDS7853.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.13|16.13	3.035436|3.035436	0.54896|0.54896	.|.	.|.	ENSG00000185238|ENSG00000185238	ENST00000331079;ENST00000541255|ENST00000437750	T|T	0.45668|0.25912	0.89|1.77	5.67|5.67	5.67|5.67	0.87782|0.87782	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);|.	0.039477|.	0.85682|.	D|.	0.000000|.	T|T	0.30070|0.30070	0.0753|0.0753	.|.	.|.	.|.	0.30789|0.30789	N|N	0.741186|0.741186	D|B	0.89917|0.30914	1.0|0.3	D|B	0.97110|0.33454	1.0|0.164	T|T	0.27400|0.27400	-1.0075|-1.0075	9|8	0.72032|0.87932	D|D	0.01|0	-17.6443|-17.6443	19.3604|19.3604	0.94434|0.94434	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	67|22	O60678|O60678-2	ANM3_HUMAN|.	F|L	67|22	ENSP00000331879:C67F|ENSP00000397766:V22L	ENSP00000331879:C67F|ENSP00000329586:V22L	C|V	+|+	2|1	0|0	PRMT3|PRMT3	20367901|20367901	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.888000|7.888000	0.87302|0.87302	2.679000|2.679000	0.91253|0.91253	0.655000|0.655000	0.94253|0.94253	TGT|GTA	PRMT3	-	NULL	ENSG00000185238		0.338	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT3	HGNC	protein_coding	OTTHUMT00000387489.1	-	0.00	36	0	G	NM_005788		20411325	+1	tier1	-	no_errors	ENST00000331079	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	T
TPSD1	23430	genome.wustl.edu	37	16	1311293	1311293	+	IGR	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:1311293G>A	ENST00000211076.3	+	0	963				PRSS29P_ENST00000568091.1_lincRNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCCCAGCCCAGCCTGCTCAGG	0.667																																																	0																																										SO:0001628	intergenic_variant	0			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511		16.37:g.1311293G>A			O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	RNA	SNP	-	NULL	ENST00000211076.3	37	NULL	CCDS10432.1	16																																																																																			PRSS29P	-	-	ENSG00000196364		0.667	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS29P	HGNC	protein_coding	OTTHUMT00000250320.2	-	0.00	69	0	G			1311293	-1	tier1	-	no_errors	ENST00000440800	ensembl	human	known	74_37	rna	13.79	25	4	SNP	0.018	A
PRSS57	400668	genome.wustl.edu	37	19	685820	685820	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:685820G>T	ENST00000329267.7	-	5	777	c.748C>A	c.(748-750)Cag>Aag	p.Q250K		NM_214710.3	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine, 57	250	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|lung(5)	6						GCGGACACCTGCGTGTACACG	0.711																																																	0													15.0	17.0	16.0					19																	685820		2181	4278	6459	SO:0001583	missense	0			AY358594	CCDS12041.1	19p13.3	2012-03-26	2011-03-07	2011-03-07		ENSG00000185198		"""Serine peptidases / Serine peptidases"""	31397	protein-coding gene	gene with protein product			"""protease, serine-like 1"""	PRSSL1		12975309	Standard	NM_214710		Approved	UNQ782	uc002lpl.1	Q6UWY2		ENST00000329267.7:c.748C>A	19.37:g.685820G>T	ENSP00000327386:p.Gln250Lys		B2RNW8	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.Q250K	ENST00000329267.7	37	c.748	CCDS12041.1	19	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.631702	0.00806	.	.	ENSG00000185198	ENST00000329267	D	0.92099	-2.97	4.77	3.72	0.42706	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.488453	0.15748	N	0.246553	T	0.78723	0.4328	N	0.03115	-0.41	0.09310	N	1	B;B	0.18013	0.012;0.025	B;B	0.20577	0.03;0.03	T	0.60606	-0.7230	10	0.02654	T	1	.	11.9504	0.52952	0.0:0.0:0.686:0.3139	.	249;250	B7ZMF6;Q6UWY2	.;PRS57_HUMAN	K	250	ENSP00000327386:Q250K	ENSP00000327386:Q250K	Q	-	1	0	PRSS57	636820	0.302000	0.24454	0.039000	0.18376	0.016000	0.09150	3.686000	0.54685	1.015000	0.39444	-0.666000	0.03841	CAG	PRSS57	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000185198		0.711	PRSS57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS57	HGNC	protein_coding	OTTHUMT00000452480.2		0.00	65	0	G	NM_214710		685820	-1			no_errors	ENST00000329267	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.017	T
PTK2	5747	genome.wustl.edu	37	8	141810606	141810606	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr8:141810606G>A	ENST00000522684.1	-	12	1274	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	PTK2_ENST00000521059.1_Missense_Mutation_p.R349W|PTK2_ENST00000517887.1_Missense_Mutation_p.R393W|PTK2_ENST00000395218.2_Missense_Mutation_p.R349W|PTK2_ENST00000538769.1_Missense_Mutation_p.R10W|PTK2_ENST00000519419.1_Missense_Mutation_p.R393W|PTK2_ENST00000340930.3_Missense_Mutation_p.R349W|PTK2_ENST00000535192.1_Missense_Mutation_p.R349W	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	349	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TTCACCAGCCGGCAGTACCCA	0.468																																																	0													112.0	98.0	103.0					8																	141810606		2203	4300	6503	SO:0001583	missense	0			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1045C>T	8.37:g.141810606G>A	ENSP00000429911:p.Arg349Trp		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R349W	ENST00000522684.1	37	c.1045	CCDS6381.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.8|24.8	4.576459|4.576459	0.86645|0.86645	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000519654|ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207	.|T;T;T;T;T;T;T;D;T;T	.|0.81659	.|2.28;2.28;2.28;2.28;2.28;2.28;2.28;-1.52;2.28;2.28	5.72|5.72	5.72|5.72	0.89469|0.89469	.|FERM domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90752|0.90752	0.7097|0.7097	M|M	0.81112|0.81112	2.525|2.525	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D	.|0.97110	.|1.0;0.999;0.997;1.0;0.999;0.999;0.997;0.997	D|D	0.90942|0.90942	0.4798|0.4798	5|10	.|0.87932	.|D	.|0	.|.	20.244|20.244	0.98389|0.98389	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|349;10;256;349;371;349;260;10	.|B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q8N9D7	.|.;.;.;FAK1_HUMAN;.;.;.;.	L|W	359|349;349;393;349;259;349;256;10;14;349;10;393;13;167	.|ENSP00000429911:R349W;ENSP00000438009:R349W;ENSP00000429082:R393W;ENSP00000429474:R349W;ENSP00000378644:R349W;ENSP00000428492:R14W;ENSP00000341189:R349W;ENSP00000445742:R10W;ENSP00000429129:R393W;ENSP00000430603:R13W	.|ENSP00000341189:R349W	P|R	-|-	2|1	0|2	PTK2|PTK2	141879788|141879788	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	4.658000|4.658000	0.61497|0.61497	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	CCG|CGG	PTK2	-	pfscan_FERM_domain	ENSG00000169398		0.468	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK2	HGNC	protein_coding	OTTHUMT00000378054.5	-	0.00	46	0	G	NM_005607		141810606	-1	tier1	-	no_errors	ENST00000395218	ensembl	human	known	74_37	missense	7.69	84	7	SNP	1.000	A
PTPRG	5793	genome.wustl.edu	37	3	61975456	61975456	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:61975456G>T	ENST00000474889.1	+	3	725	c.348G>T	c.(346-348)tgG>tgT	p.W116C	PTPRG_ENST00000295874.10_Missense_Mutation_p.W116C	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	116	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.W116Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ACAAAACCTGGATGAAAAACA	0.423																																																	1	Substitution - Missense(1)	lung(1)											83.0	77.0	79.0					3																	61975456		2203	4300	6503	SO:0001583	missense	0			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.348G>T	3.37:g.61975456G>T	ENSP00000418112:p.Trp116Cys		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.W116C	ENST00000474889.1	37	c.348	CCDS2895.1	3	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331480	0.60853	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.66280	-0.2;-0.2	5.92	5.92	0.95590	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.136231	0.53938	D	0.000048	T	0.75982	0.3924	M	0.66939	2.045	0.80722	D	1	D;D	0.56287	0.969;0.975	P;P	0.57204	0.719;0.815	T	0.76764	-0.2839	10	0.72032	D	0.01	.	20.2995	0.98608	0.0:0.0:1.0:0.0	.	116;116	P23470-2;P23470	.;PTPRG_HUMAN	C	116	ENSP00000418112:W116C;ENSP00000295874:W116C	ENSP00000295874:W116C	W	+	3	0	PTPRG	61950496	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.271000	0.43364	2.799000	0.96334	0.655000	0.94253	TGG	PTPRG	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000144724		0.423	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	HGNC	protein_coding	OTTHUMT00000351674.1		0.00	71	0	G	NM_002841		61975456	+1			no_errors	ENST00000474889	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T
PTPRT	11122	genome.wustl.edu	37	20	40864897	40864897	+	Splice_Site	SNP	T	T	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr20:40864897T>G	ENST00000373187.1	-	15	2313	c.2314A>C	c.(2314-2316)Aga>Cga	p.R772R	PTPRT_ENST00000373198.4_Splice_Site_p.R791R|PTPRT_ENST00000373201.1_Intron|PTPRT_ENST00000373190.1_Splice_Site_p.R772R|PTPRT_ENST00000356100.2_Intron|PTPRT_ENST00000373184.1_Intron|PTPRT_ENST00000373193.3_Splice_Site_p.R772R			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	772					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TAAGCATTTCTTCTATATATT	0.373																																																	0													105.0	103.0	104.0					20																	40864897		1868	4096	5964	SO:0001630	splice_region_variant	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2313-1A>C	20.37:g.40864897T>G			A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.R791	ENST00000373187.1	37	c.2371	CCDS42874.1	20																																																																																			PTPRT	-	NULL	ENSG00000196090		0.373	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	-	0.00	52	0	T		Silent	40864897	-1	tier1	-	no_errors	ENST00000373198	ensembl	human	known	74_37	silent	25.84	66	23	SNP	1.000	G
QARS	5859	genome.wustl.edu	37	3	49136324	49136324	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:49136324G>T	ENST00000306125.6	-	19	2194	c.1857C>A	c.(1855-1857)ttC>ttA	p.F619L	QARS_ENST00000470225.1_5'Flank|QARS_ENST00000414533.1_Missense_Mutation_p.F608L			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	619					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TTACCTCCTTGAAGTCAGTCC	0.517																																																	0													90.0	88.0	88.0					3																	49136324		2203	4300	6503	SO:0001583	missense	0			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1857C>A	3.37:g.49136324G>T	ENSP00000307567:p.Phe619Leu		B4DWJ2	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth,tigrfam_Gln-tRNA-synth	p.F619L	ENST00000306125.6	37	c.1857	CCDS2788.1	3	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842100	0.91197	.	.	ENSG00000172053	ENST00000453392;ENST00000306125;ENST00000414533	T;T	0.31247	1.51;1.5	5.88	2.67	0.31697	Ribosomal protein L25/Gln-tRNA synthetase, anti-codon-binding domain (1);Ribosomal protein L25/Gln-tRNA synthetase, beta-barrel domain (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, anti-codon binding domain (1);	0.000000	0.85682	D	0.000000	T	0.64670	0.2619	H	0.97415	4	0.80722	D	1	P;P	0.51057	0.941;0.941	P;P	0.61070	0.883;0.883	T	0.75780	-0.3197	10	0.87932	D	0	-20.2198	11.9527	0.52964	0.2239:0.0:0.7761:0.0	.	608;619	B4DWJ2;P47897	.;SYQ_HUMAN	L	139;619;608	ENSP00000307567:F619L;ENSP00000390015:F608L	ENSP00000307567:F619L	F	-	3	2	QARS	49111328	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.802000	0.47916	0.817000	0.34445	0.561000	0.74099	TTC	QARS	-	pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,tigrfam_Gln-tRNA-synth	ENSG00000172053		0.517	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QARS	HGNC	protein_coding	OTTHUMT00000345689.2		0.00	41	0	G	NM_005051		49136324	-1			no_errors	ENST00000306125	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T
RAB40AL	282808	genome.wustl.edu	37	X	102192431	102192431	+	Missense_Mutation	SNP	G	G	C			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chrX:102192431G>C	ENST00000218249.5	+	1	232	c.185G>C	c.(184-186)cGg>cCg	p.R62P	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	62					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						GACGGCCAGCGGGTGAAGCTG	0.597																																																	0													86.0	85.0	85.0					X																	102192431		2203	4299	6502	SO:0001583	missense	0			BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"""Ras like GTPase"""	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	ENST00000218249.5:c.185G>C	X.37:g.102192431G>C	ENSP00000218249:p.Arg62Pro		Q495H3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R62P	ENST00000218249.5	37	c.185	CCDS35353.1	X	.	.	.	.	.	.	.	.	.	.	.	23.3	4.399788	0.83120	.	.	ENSG00000102128	ENST00000218249	T	0.77229	-1.08	0.779	0.779	0.18550	Small GTP-binding protein domain (1);	0.000000	0.42548	U	0.000686	T	0.78773	0.4336	L	0.39020	1.185	0.53688	D	0.999973	D	0.89917	1.0	D	0.97110	1.0	T	0.76892	-0.2791	10	0.87932	D	0	.	7.2348	0.26064	1.0E-4:0.0:0.9999:0.0	.	62	P0C0E4	RB40L_HUMAN	P	62	ENSP00000218249:R62P	ENSP00000218249:R62P	R	+	2	0	RAB40AL	102079087	0.799000	0.28903	0.965000	0.40720	0.924000	0.55760	2.130000	0.42064	0.678000	0.31325	0.458000	0.33432	CGG	RAB40AL	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000102128		0.597	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB40AL	HGNC	protein_coding	OTTHUMT00000057679.1	-	0.00	36	0	G	NM_001031834		102192431	+1	tier1	-	no_errors	ENST00000218249	ensembl	human	known	74_37	missense	43.18	25	19	SNP	0.997	C
RAD50	10111	genome.wustl.edu	37	5	131972884	131972884	+	Missense_Mutation	SNP	G	G	A	rs587780156		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:131972884G>A	ENST00000265335.6	+	22	3854	c.3467G>A	c.(3466-3468)cGt>cAt	p.R1156H	AC004041.2_ENST00000435042.1_RNA|AC004041.2_ENST00000458509.1_RNA|AC004041.2_ENST00000457489.1_RNA|AC004041.2_ENST00000417516.1_RNA|RAD50_ENST00000378823.3_Missense_Mutation_p.R1017H			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1156					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTACCTATCGTGGACAAGGT	0.433								Homologous recombination																																									0													230.0	239.0	236.0					5																	131972884		2203	4300	6503	SO:0001583	missense	0			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.3467G>A	5.37:g.131972884G>A	ENSP00000265335:p.Arg1156His		B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes	p.R1156H	ENST00000265335.6	37	c.3467	CCDS34233.1	5	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756414	0.89843	.	.	ENSG00000113522	ENST00000378823;ENST00000265335	T;T	0.03607	3.87;3.87	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.19886	0.0478	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.00013	-1.2420	10	0.66056	D	0.02	-9.3997	20.2447	0.98397	0.0:0.0:1.0:0.0	.	1156	Q92878	RAD50_HUMAN	H	1017;1156	ENSP00000368100:R1017H;ENSP00000265335:R1156H	ENSP00000265335:R1156H	R	+	2	0	RAD50	132000783	1.000000	0.71417	0.987000	0.45799	0.410000	0.31052	7.643000	0.83403	2.790000	0.95986	0.609000	0.83330	CGT	RAD50	-	superfamily_P-loop_NTPase,tigrfam_Rad50_eukaryotes	ENSG00000113522		0.433	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD50	HGNC	protein_coding	OTTHUMT00000132566.5	-	0.00	81	0	G	NM_005732		131972884	+1	tier1	-	no_errors	ENST00000265335	ensembl	human	known	74_37	missense	7.61	85	7	SNP	1.000	A
RALGDS	5900	genome.wustl.edu	37	9	135977460	135977460	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:135977460G>T	ENST00000372050.3	-	15	2097	c.2076C>A	c.(2074-2076)ctC>ctA	p.L692L	RALGDS_ENST00000372062.3_Silent_p.L663L|RALGDS_ENST00000542690.1_Silent_p.L763L|RALGDS_ENST00000372047.3_Silent_p.L680L|RALGDS_ENST00000393157.3_Silent_p.L691L|RALGDS_ENST00000393160.3_Silent_p.L637L|RALGDS_ENST00000469972.1_5'UTR	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	692					neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GGCCACACCTGAGCTGGTCAC	0.637			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)			Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	0													32.0	29.0	30.0					9																	135977460		2191	4282	6473	SO:0001819	synonymous_variant	0			AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.2076C>A	9.37:g.135977460G>T			B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L763	ENST00000372050.3	37	c.2289	CCDS6959.1	9																																																																																			RALGDS	-	NULL	ENSG00000160271		0.637	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALGDS	HGNC	protein_coding	OTTHUMT00000054837.1	-	0.00	61	0	G	NM_006266		135977460	-1	tier1	-	no_errors	ENST00000542690	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.997	T
RAP1GAP2	23108	genome.wustl.edu	37	17	2883622	2883622	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:2883622G>T	ENST00000254695.8	+	9	728	c.638G>T	c.(637-639)gGa>gTa	p.G213V	RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.G213V|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.G198V|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.G194V	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	213					negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CCCTTGGCTGGACTGAGCAAG	0.557																																																	0													93.0	92.0	92.0					17																	2883622		2001	4179	6180	SO:0001583	missense	0			AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 4"", ""GTPase activating Rap/RanGAP domain-like 4"""	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.638G>T	17.37:g.2883622G>T	ENSP00000254695:p.Gly213Val		B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	p.G213V	ENST00000254695.8	37	c.638	CCDS45573.1	17	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635769	0.67130	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	4.99	4.99	0.66335	.	0.248908	0.39475	N	0.001355	D	0.95316	0.8480	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.79108	0.992;0.91	D	0.93743	0.7052	10	0.25751	T	0.34	-14.9264	13.861	0.63559	0.0:0.0:1.0:0.0	.	198;213	Q684P5-2;Q684P5	.;RPGP2_HUMAN	V	213;198;194;213	ENSP00000254695:G213V;ENSP00000389824:G198V;ENSP00000439688:G194V;ENSP00000444890:G213V	ENSP00000254695:G213V	G	+	2	0	RAP1GAP2	2830372	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.784000	0.68990	2.320000	0.78422	0.555000	0.69702	GGA	RAP1GAP2	-	NULL	ENSG00000132359		0.557	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAP1GAP2	HGNC	protein_coding	OTTHUMT00000438208.2	-	0.00	41	0	G			2883622	+1	tier1	-	no_errors	ENST00000254695	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T
RASA3	22821	genome.wustl.edu	37	13	114784304	114784304	+	Missense_Mutation	SNP	G	G	T	rs140563204		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr13:114784304G>T	ENST00000334062.7	-	10	998	c.877C>A	c.(877-879)Cac>Aac	p.H293N	RASA3_ENST00000389544.4_Missense_Mutation_p.H261N|RASA3_ENST00000542651.1_3'UTR	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	293					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GAAAACACGTGGTCTTCCGTG	0.597																																																	0													129.0	113.0	118.0					13																	114784304		2203	4300	6503	SO:0001583	missense	0				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.877C>A	13.37:g.114784304G>T	ENSP00000335029:p.His293Asn		A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.H293N	ENST00000334062.7	37	c.877	CCDS32016.1	13	.	.	.	.	.	.	.	.	.	.	G	12.82	2.051431	0.36181	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	T;T	0.70516	-0.49;-0.49	4.78	4.78	0.61160	C2 calcium/lipid-binding domain, CaLB (1);Ras GTPase-activating protein (1);	0.099413	0.64402	D	0.000002	T	0.64238	0.2580	L	0.46741	1.465	0.80722	D	1	B	0.18166	0.026	B	0.13407	0.009	T	0.60052	-0.7338	9	.	.	.	.	16.5684	0.84604	0.0:0.0:1.0:0.0	.	293	Q14644	RASA3_HUMAN	N	293;261	ENSP00000335029:H293N;ENSP00000374195:H261N	.	H	-	1	0	RASA3	113802406	1.000000	0.71417	0.916000	0.36221	0.049000	0.14656	8.260000	0.89857	2.153000	0.67306	0.591000	0.81541	CAC	RASA3	-	superfamily_C2_dom,smart_RasGAP	ENSG00000185989		0.597	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASA3	HGNC	protein_coding	OTTHUMT00000045957.2	-	0.00	66	0	G	NM_007368		114784304	-1	tier1	-	no_errors	ENST00000334062	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	T
RASGRP3	25780	genome.wustl.edu	37	2	33783812	33783812	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:33783812G>T	ENST00000403687.3	+	17	2519	c.1779G>T	c.(1777-1779)ctG>ctT	p.L593L	RASGRP3_ENST00000407811.1_Silent_p.L592L|AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000402538.3_Silent_p.L593L	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	593					MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					CCATCACACTGGTTACAGGCT	0.562																																																	0													74.0	69.0	71.0					2																	33783812		1981	4177	6158	SO:0001819	synonymous_variant	0			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1779G>T	2.37:g.33783812G>T			D6W583|O94931|Q53SD7	Silent	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.L593	ENST00000403687.3	37	c.1779	CCDS46256.1	2																																																																																			RASGRP3	-	NULL	ENSG00000152689		0.562	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	RASGRP3	HGNC	protein_coding	OTTHUMT00000325462.2		0.00	17	0	G	NM_015376		33783812	+1			no_errors	ENST00000402538	ensembl	human	known	74_37	silent	8.70	21	2	SNP	1.000	T
RBM24	221662	genome.wustl.edu	37	6	17292540	17292540	+	3'UTR	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:17292540G>T	ENST00000379052.5	+	0	1137				RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000425446.2_3'UTR|RBM24_ENST00000318204.5_3'UTR	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24						cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			GTAAGAATGAGGGGAATGGGC	0.378																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183		"""RNA binding motif (RRM) containing"""	21539	protein-coding gene	gene with protein product			"""RNA-binding region (RNP1, RRM) containing 6"""	RNPC6			Standard	NM_153020		Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.*190G>T	6.37:g.17292540G>T			E9PAY4|Q6QDA4|Q8N9D3|Q96NI3	RNA	SNP	-	NULL	ENST00000379052.5	37	NULL	CCDS47378.1	6																																																																																			RBM24	-	-	ENSG00000112183		0.378	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM24	HGNC	protein_coding	OTTHUMT00000039946.2	-	0.00	63	0	G	NM_153020		17292540	+1	tier1	-	no_errors	ENST00000508508	ensembl	human	known	74_37	rna	15.79	16	3	SNP	0.017	T
RBMX	27316	genome.wustl.edu	37	X	135955691	135955691	+	3'UTR	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chrX:135955691G>T	ENST00000320676.7	-	0	1940				RBMX_ENST00000570135.1_3'UTR|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000496459.2_5'UTR	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked						cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CTTATTGGGGGAAGGGAAAGG	0.408																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.*610C>A	X.37:g.135955691G>T			B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	RNA	SNP	-	NULL	ENST00000320676.7	37	NULL	CCDS14661.1	X																																																																																			RBMX	-	-	ENSG00000147274		0.408	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX	HGNC	protein_coding	OTTHUMT00000058507.1	-	0.00	9	0	G	NM_002139		135955691	-1	tier1	-	no_errors	ENST00000496459	ensembl	human	known	74_37	rna	24.00	19	6	SNP	1.000	T
RCC2	55920	genome.wustl.edu	37	1	17755608	17755608	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:17755608G>T	ENST00000375436.4	-	3	560	c.373C>A	c.(373-375)Cag>Aag	p.Q125K	RCC2_ENST00000375433.3_Missense_Mutation_p.Q125K	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	125					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		ATACCTTGCTGTTTAGGCACT	0.448																																																	0													154.0	124.0	134.0					1																	17755608		2203	4300	6503	SO:0001583	missense	0				CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.373C>A	1.37:g.17755608G>T	ENSP00000364585:p.Gln125Lys		Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens	p.Q125K	ENST00000375436.4	37	c.373	CCDS181.1	1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630113	0.28978	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	T;T	0.36340	1.26;1.26	5.72	5.72	0.89469	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.120933	0.64402	D	0.000015	T	0.30916	0.0780	L	0.44542	1.39	0.58432	D	0.99999	B	0.34015	0.435	B	0.30401	0.115	T	0.06643	-1.0815	10	0.10377	T	0.69	-13.231	18.8071	0.92041	0.0:0.0:1.0:0.0	.	125	Q9P258	RCC2_HUMAN	K	125	ENSP00000364585:Q125K;ENSP00000364582:Q125K	ENSP00000364582:Q125K	Q	-	1	0	RCC2	17628195	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	7.676000	0.84012	2.865000	0.98341	0.655000	0.94253	CAG	RCC2	-	superfamily_RCC1/BLIP-II	ENSG00000179051		0.448	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCC2	HGNC	protein_coding	OTTHUMT00000007144.1	-	0.00	75	0	G	NM_018715		17755608	-1	tier1	-	no_errors	ENST00000375433	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T
RELN	5649	genome.wustl.edu	37	7	103234809	103234809	+	Missense_Mutation	SNP	G	G	T	rs549360134		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:103234809G>T	ENST00000428762.1	-	26	3829	c.3670C>A	c.(3670-3672)Cag>Aag	p.Q1224K	RELN_ENST00000343529.5_Missense_Mutation_p.Q1224K|RELN_ENST00000424685.2_Missense_Mutation_p.Q1224K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1224					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATCTGCTTCTGCTTCTCGGAC	0.473																																					NSCLC(146;835 1944 15585 22231 52158)												0													284.0	274.0	277.0					7																	103234809		2203	4300	6503	SO:0001583	missense	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3670C>A	7.37:g.103234809G>T	ENSP00000392423:p.Gln1224Lys		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.Q1224K	ENST00000428762.1	37	c.3670	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756123	0.49362	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22945	1.93;1.93;1.93	5.43	5.43	0.79202	.	0.063316	0.64402	D	0.000004	T	0.28863	0.0716	L	0.50333	1.59	0.42037	D	0.991051	B;B	0.28636	0.218;0.156	B;B	0.25614	0.047;0.062	T	0.06789	-1.0807	10	0.62326	D	0.03	.	19.2511	0.93926	0.0:0.0:1.0:0.0	.	1224;1224	P78509-2;P78509	.;RELN_HUMAN	K	1224	ENSP00000392423:Q1224K;ENSP00000345694:Q1224K;ENSP00000388446:Q1224K	ENSP00000345694:Q1224K	Q	-	1	0	RELN	103022045	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.285000	0.65633	2.534000	0.85438	0.591000	0.81541	CAG	RELN	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000189056		0.473	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	-	0.00	45	0	G	NM_005045		103234809	-1	tier1	-	no_errors	ENST00000424685	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T
REN	5972	genome.wustl.edu	37	1	204135349	204135349	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:204135349G>T	ENST00000272190.8	-	1	101	c.73C>A	c.(73-75)Ccg>Acg	p.P25T	REN_ENST00000367195.2_Missense_Mutation_p.P25T	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	25					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GTGTCTGTCGGGAGACCAAAG	0.582																																																	0													140.0	131.0	134.0					1																	204135349		2203	4300	6503	SO:0001583	missense	0			BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.73C>A	1.37:g.204135349G>T	ENSP00000272190:p.Pro25Thr		Q6FI38|Q6T5C2	Missense_Mutation	SNP	pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.P25T	ENST00000272190.8	37	c.73	CCDS30981.1	1	.	.	.	.	.	.	.	.	.	.	G	7.947	0.743937	0.15642	.	.	ENSG00000143839	ENST00000367195;ENST00000272190	T;T	0.60920	0.15;0.15	4.1	3.19	0.36642	Peptidase aspartic (1);	0.788569	0.11580	N	0.549810	T	0.32224	0.0822	N	0.08118	0	0.31335	N	0.684377	B	0.28512	0.214	B	0.17979	0.02	T	0.31251	-0.9950	10	0.25751	T	0.34	.	7.785	0.29087	0.1155:0.0:0.8845:0.0	.	25	P00797	RENI_HUMAN	T	25	ENSP00000356163:P25T;ENSP00000272190:P25T	ENSP00000272190:P25T	P	-	1	0	REN	202401972	1.000000	0.71417	0.796000	0.32109	0.140000	0.21249	2.679000	0.46909	1.069000	0.40788	-0.350000	0.07774	CCG	REN	-	superfamily_Peptidase_aspartic_dom	ENSG00000143839		0.582	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REN	HGNC	protein_coding	OTTHUMT00000087891.1	-	0.00	57	0	G	NM_000537		204135349	-1	tier1	-	no_errors	ENST00000272190	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.904	T
RFX3	5991	genome.wustl.edu	37	9	3270393	3270393	+	Silent	SNP	G	G	T	rs551991758		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:3270393G>T	ENST00000382004.3	-	12	1646	c.1335C>A	c.(1333-1335)ccC>ccA	p.P445P	RFX3_ENST00000302303.1_Silent_p.P445P|RFX3_ENST00000358730.2_Silent_p.P445P	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	445					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TAAGGACGTCGGGGATGAGAA	0.438																																																	0													119.0	102.0	108.0					9																	3270393		2203	4300	6503	SO:0001819	synonymous_variant	0			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1335C>A	9.37:g.3270393G>T			A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Silent	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.P445	ENST00000382004.3	37	c.1335	CCDS6449.1	9																																																																																			RFX3	-	NULL	ENSG00000080298		0.438	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX3	HGNC	protein_coding	OTTHUMT00000051545.1	-	0.00	74	0	G	NM_002919		3270393	-1	tier1	-	no_errors	ENST00000382004	ensembl	human	known	74_37	silent	7.02	53	4	SNP	1.000	T
RIC8A	60626	genome.wustl.edu	37	11	212896	212896	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:212896G>T	ENST00000526104.1	+	8	2614	c.1270G>T	c.(1270-1272)Ggc>Tgc	p.G424C	RIC8A_ENST00000325207.5_Missense_Mutation_p.G430C|RIC8A_ENST00000527696.1_Missense_Mutation_p.G418C			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	424					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGCTGCCAGGGGCCTCATGGC	0.602																																																	0													52.0	57.0	55.0					11																	212896		2203	4300	6503	SO:0001583	missense	0			AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.1270G>T	11.37:g.212896G>T	ENSP00000432008:p.Gly424Cys		Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP	pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn	p.G430C	ENST00000526104.1	37	c.1288		11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.551618|4.551618	0.86127|0.86127	.|.	.|.	ENSG00000177963|ENSG00000177963	ENST00000526104;ENST00000325207;ENST00000527696|ENST00000524854	.|.	.|.	.|.	3.96|3.96	3.96|3.96	0.45880|0.45880	Synembryn (1);|.	0.112688|0.112688	0.64402|0.64402	D|D	0.000012|0.000012	D|D	0.83367|0.83367	0.5239|0.5239	M|M	0.89904|0.89904	3.07|3.07	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.80764|.	0.992;0.994;0.989|.	D|D	0.86984|0.86984	0.2106|0.2106	9|6	0.87932|.	D|.	0|.	-24.688|-24.688	16.2632|16.2632	0.82562|0.82562	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	418;424;430|.	Q9NPQ8-2;Q9NPQ8;Q9NPQ8-3|.	.;RIC8A_HUMAN;.|.	C|V	424;430;418|31	.|.	ENSP00000325941:G430C|.	G|G	+|+	1|2	0|0	RIC8A|RIC8A	202896|202896	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.589000|7.589000	0.82641|0.82641	2.526000|2.526000	0.85167|0.85167	0.561000|0.561000	0.74099|0.74099	GGC|GGG	RIC8A	-	pfam_Gua_nucleotide_exch_fac_Ric8,prints_Synembryn	ENSG00000177963		0.602	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	RIC8A	HGNC	protein_coding	OTTHUMT00000384761.1	-	0.00	29	0	G	NM_021932		212896	+1	tier1	-	no_errors	ENST00000325207	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T
RNF220	55182	genome.wustl.edu	37	1	45115240	45115240	+	Intron	SNP	A	A	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:45115240A>G	ENST00000355387.2	+	13	1895				RNF220_ENST00000443020.2_Intron|TMEM53_ENST00000372244.3_Intron|RNF220_ENST00000480686.1_Intron|TMEM53_ENST00000372242.3_Intron|RNF220_ENST00000372247.2_Intron|TMEM53_ENST00000372243.3_Intron|RNF220_ENST00000361799.2_Intron			Q5VTB9	RN220_HUMAN	ring finger protein 220						protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						ggggacatttatgtatttggt	0.493																																																	0																																										SO:0001627	intron_variant	0			AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.1446-93A>G	1.37:g.45115240A>G			B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	RNA	SNP	-	NULL	ENST00000355387.2	37	NULL	CCDS510.1	1																																																																																			RNF220	-	-	ENSG00000187147		0.493	RNF220-001	KNOWN	basic|CCDS	protein_coding	RNF220	HGNC	protein_coding	OTTHUMT00000020683.4	-	0.00	49	0	A	NM_018150		45115240	+1	tier1	-	no_errors	ENST00000474956	ensembl	human	known	74_37	rna	16.67	35	7	SNP	0.000	G
RNPC3	55599	genome.wustl.edu	37	1	104076467	104076467	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:104076467delA	ENST00000533099.1	+	4	583	c.347delA	c.(346-348)gaafs	p.E116fs	RNPC3_ENST00000524631.1_Frame_Shift_Del_p.E116fs|RNPC3_ENST00000423855.2_Frame_Shift_Del_p.E116fs			Q96LT9	RBM40_HUMAN	RNA-binding region (RNP1, RRM) containing 3	116	Necessary for interaction with PDCD7.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163)		TCAGGCTCTGAAAAAAAAAAA	0.318																																																	0										85,435,1262		6,1,72,18,398,396	50.0	39.0	43.0			4.6	0.6	1		49	197,914,2651		20,3,154,16,879,809	no	codingComplex	RNPC3	NM_017619.3		26,4,226,34,1277,1205	A1A1,A1A2,A1R,A2A2,A2R,RR		29.5322,29.1807,29.4192			104076467	282,1349,3913	692	1590	2282	SO:0001589	frameshift_variant	0			AB058742, AY099329	CCDS781.1	1p21.1	2013-07-16			ENSG00000185946	ENSG00000185946		"""RNA binding motif (RRM) containing"""	18666	protein-coding gene	gene with protein product	"""U11/U12 snRNP 65K"""					14974681, 15146077	Standard	NM_017619		Approved	KIAA1839, FLJ20008, RBM40, SNRNP65	uc010oun.2	Q96LT9	OTTHUMG00000166613	ENST00000533099.1:c.347delA	1.37:g.104076467delA	ENSP00000432886:p.Glu116fs		A8K1C9|D3DT74|Q5TZ87|Q96FK7|Q96JI8|Q9NSU7|Q9NXX2	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K119fs	ENST00000533099.1	37	c.347	CCDS781.1	1																																																																																			RNPC3	-	NULL	ENSG00000185946		0.318	RNPC3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNPC3	HGNC	protein_coding	OTTHUMT00000390812.1		0.00	27	0	A	NM_017619		104076467	+1	tier1		no_errors	ENST00000423855	ensembl	human	known	74_37	frame_shift_del	25.71	26	9	DEL	0.784	-
UMAD1	729852	genome.wustl.edu	37	7	7917073	7917073	+	Missense_Mutation	SNP	C	C	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:7917073C>G	ENST00000406829.1	+	3	330	c.213C>G	c.(211-213)gaC>gaG	p.D71E	RPA3-AS1_ENST00000469183.1_Intron																							CCATCACTGACCTTCCCGACC	0.507																																																	0																																										SO:0001583	missense	0																														ENST00000406829.1:c.213C>G	7.37:g.7917073C>G	ENSP00000386039:p.Asp71Glu			Missense_Mutation	SNP	NULL	p.D71E	ENST00000406829.1	37	c.213		7	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858975	0.32884	.	.	ENSG00000219545	ENST00000433511;ENST00000406829	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	T	0.65238	0.2672	.	.	.	.	.	.	D	0.76494	0.999	D	0.71184	0.972	T	0.58612	-0.7606	6	0.09084	T	0.74	.	13.803	0.63214	0.0:0.9271:0.0:0.0729	.	106	A4D104	.	E	106;71	.	ENSP00000386039:D71E	D	+	3	2	AC006465.3	7883598	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	1.051000	0.30417	2.894000	0.99253	0.591000	0.81541	GAC	RPA3-AS1	-	NULL	ENSG00000219545		0.507	RPA3-AS1-001	NOVEL	basic|appris_principal	protein_coding	RPA3-AS1	HGNC	protein_coding	OTTHUMT00000324790.3	-	0.00	44	0	C			7917073	+1	tier1	-	no_errors	ENST00000406829	ensembl	human	novel	74_37	missense	43.48	26	20	SNP	1.000	G
RPAP3	79657	genome.wustl.edu	37	12	48080646	48080646	+	Silent	SNP	T	T	C			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:48080646T>C	ENST00000005386.3	-	9	1024	c.909A>G	c.(907-909)gaA>gaG	p.E303E	RPAP3_ENST00000380650.4_Silent_p.E303E|RPAP3_ENST00000432584.3_Silent_p.E144E	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	303										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					GAGTATAGCATTCAATTGCTC	0.348																																																	0													155.0	141.0	146.0					12																	48080646		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"""Tetratricopeptide (TTC) repeat domain containing"""	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.909A>G	12.37:g.48080646T>C			B4DRW9|Q6PHR5	Silent	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E303	ENST00000005386.3	37	c.909	CCDS8753.1	12																																																																																			RPAP3	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000005175		0.348	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP3	HGNC	protein_coding	OTTHUMT00000405340.1	-	0.00	61	0	T	NM_024604		48080646	-1	tier1	-	no_errors	ENST00000005386	ensembl	human	known	74_37	silent	53.57	26	30	SNP	1.000	C
HAUS6	54801	genome.wustl.edu	37	9	19050221	19050221	+	IGR	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:19050221G>T	ENST00000380502.3	-	0	6536				RRAGA_ENST00000380527.1_Missense_Mutation_p.E188D	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGCAGCTGGAGATGAACCTCA	0.488																																																	0													79.0	78.0	78.0					9																	19050221		2203	4300	6503	SO:0001628	intergenic_variant	0			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622		9.37:g.19050221G>T			B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	pfam_Gtr1_RagA,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase	p.E188D	ENST00000380502.3	37	c.564	CCDS6489.1	9	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578586	0.65878	.	.	ENSG00000155876	ENST00000380527	T	0.68624	-0.34	4.92	3.08	0.35506	.	0.000000	0.85682	D	0.000000	D	0.82701	0.5094	M	0.92604	3.325	0.58432	D	0.999993	D	0.64830	0.994	D	0.68483	0.958	D	0.84989	0.0893	10	0.87932	D	0	-5.2745	9.2308	0.37437	0.1807:0.0:0.8193:0.0	.	188	Q7L523	RRAGA_HUMAN	D	188	ENSP00000369899:E188D	ENSP00000369899:E188D	E	+	3	2	RRAGA	19040221	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.113000	0.41902	1.458000	0.47871	0.655000	0.94253	GAG	RRAGA	-	pfam_Gtr1_RagA,superfamily_P-loop_NTPase	ENSG00000155876		0.488	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAGA	HGNC	protein_coding	OTTHUMT00000051825.1	-	0.00	37	0	G	NM_017645		19050221	+1	tier1	-	no_errors	ENST00000380527	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	T
RRP12	23223	genome.wustl.edu	37	10	99125868	99125868	+	Missense_Mutation	SNP	T	T	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:99125868T>G	ENST00000370992.4	-	29	3625	c.3514A>C	c.(3514-3516)Aaa>Caa	p.K1172Q	RRP12_ENST00000536831.1_Missense_Mutation_p.K890Q|RRP12_ENST00000315563.6_Missense_Mutation_p.K1072Q|RRP12_ENST00000414986.1_Missense_Mutation_p.K1111Q|RRP12_ENST00000479481.1_5'UTR	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1172						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGCCCACCTTTGGCACCTTCC	0.552																																																	0													244.0	191.0	209.0					10																	99125868		2203	4300	6503	SO:0001583	missense	0				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3514A>C	10.37:g.99125868T>G	ENSP00000360031:p.Lys1172Gln		B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold	p.K1172Q	ENST00000370992.4	37	c.3514	CCDS7457.1	10	.	.	.	.	.	.	.	.	.	.	T	11.42	1.633131	0.29068	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.32988	1.43;1.44;1.44;1.43	5.47	4.31	0.51392	.	0.669254	0.15640	N	0.251922	T	0.22475	0.0542	L	0.34521	1.04	0.46774	D	0.999199	P;P;P;B	0.43826	0.818;0.682;0.813;0.059	B;B;B;B	0.39419	0.165;0.299;0.232;0.042	T	0.01520	-1.1334	10	0.29301	T	0.29	.	9.4447	0.38690	0.1584:0.0:0.0:0.8416	.	1111;1072;890;1172	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	Q	1172;1072;1111;890	ENSP00000360031:K1172Q;ENSP00000324315:K1072Q;ENSP00000414863:K1111Q;ENSP00000446184:K890Q	ENSP00000324315:K1072Q	K	-	1	0	RRP12	99115858	0.724000	0.28038	0.367000	0.25926	0.013000	0.08279	-0.231000	0.09069	0.879000	0.35944	0.454000	0.30748	AAA	RRP12	-	NULL	ENSG00000052749		0.552	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RRP12	HGNC	protein_coding	OTTHUMT00000049699.4	-	0.00	66	0	T	NM_015179		99125868	-1	tier1	-	no_errors	ENST00000370992	ensembl	human	known	74_37	missense	34.38	21	11	SNP	0.979	G
RTTN	25914	genome.wustl.edu	37	18	67755342	67755342	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr18:67755342G>T	ENST00000255674.6	-	31	4471	c.4185C>A	c.(4183-4185)acC>acA	p.T1395T	RTTN_ENST00000437017.1_Silent_p.T1395T|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1395					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CCGTTTCAAGGGTGGTCAGTG	0.438																																																	0													104.0	100.0	101.0					18																	67755342		1905	4113	6018	SO:0001819	synonymous_variant	0			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4185C>A	18.37:g.67755342G>T			Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	superfamily_ARM-type_fold	p.T1395	ENST00000255674.6	37	c.4185	CCDS42443.1	18																																																																																			RTTN	-	NULL	ENSG00000176225		0.438	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1		0.00	69	0	G	NM_173630		67755342	-1			no_errors	ENST00000255674	ensembl	human	known	74_37	silent	8.16	45	4	SNP	0.811	T
SBNO2	22904	genome.wustl.edu	37	19	1109592	1109592	+	Silent	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:1109592G>A	ENST00000361757.3	-	28	3366	c.3129C>T	c.(3127-3129)agC>agT	p.S1043S	SBNO2_ENST00000438103.2_Silent_p.S986S|SBNO2_ENST00000587024.1_Silent_p.S1033S	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	1043					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)			p.S1043R(1)|p.S1061R(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGGTCCACGCTGATCTGCC	0.672																																																	2	Substitution - Missense(2)	central_nervous_system(2)											6.0	7.0	7.0					19																	1109592		1849	4017	5866	SO:0001819	synonymous_variant	0			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.3129C>T	19.37:g.1109592G>A			A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	superfamily_P-loop_NTPase	p.S1043	ENST00000361757.3	37	c.3129	CCDS45894.1	19																																																																																			SBNO2	-	NULL	ENSG00000064932		0.672	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO2	HGNC	protein_coding	OTTHUMT00000458065.2		0.00	27	0	G	NM_014963		1109592	-1			no_errors	ENST00000361757	ensembl	human	known	74_37	silent	22.22	14	4	SNP	0.821	A
SARS2	54938	genome.wustl.edu	37	19	39408448	39408448	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:39408448G>T	ENST00000221431.6	-	12	1235	c.1076C>A	c.(1075-1077)cCt>cAt	p.P359H	SARS2_ENST00000600042.1_Missense_Mutation_p.P361H|CTC-360G5.8_ENST00000599996.1_Silent_p.P428P|SARS2_ENST00000594171.1_Missense_Mutation_p.P169H|SARS2_ENST00000448145.2_Missense_Mutation_p.P359H|SARS2_ENST00000430193.3_Missense_Mutation_p.P359H|SARS2_ENST00000598831.1_Missense_Mutation_p.P7H	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	359					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTCCAGCCCAGGGCCTGTCAC	0.632																																																	0													60.0	55.0	57.0					19																	39408448		2203	4300	6503	SO:0001583	missense	0			AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	17697	protein-coding gene	gene with protein product	"""serine tRNA ligase 2, mitochondrial"""	612804	"""serine-tRNA ligase, mitochondrial"", ""seryl-tRNA synthetase 2"""	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.1076C>A	19.37:g.39408448G>T	ENSP00000221431:p.Pro359His		A6NHW7|B4DE10|Q9BVP3	Missense_Mutation	SNP	pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,superfamily_tRNA-bd_arm,prints_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1	p.P361H	ENST00000221431.6	37	c.1082	CCDS33017.1	19	.	.	.	.	.	.	.	.	.	.	g	15.35	2.806474	0.50421	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000448145	T;T	0.72505	-0.66;-0.66	4.87	4.87	0.63330	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.124736	0.52532	D	0.000073	D	0.83977	0.5371	M	0.92880	3.355	.	.	.	D;D;D;P	0.58268	0.982;0.977;0.982;0.829	P;P;P;P	0.57776	0.827;0.731;0.827;0.64	D	0.90474	0.4455	9	0.87932	D	0	.	10.7274	0.46077	0.0:0.0:0.6914:0.3086	.	359;361;359;359	E7EX87;B4DE10;B4DXB9;Q9NP81	.;.;.;SYSM_HUMAN	H	361;359;359	ENSP00000221431:P359H;ENSP00000399330:P359H	ENSP00000221431:P359H	P	-	2	0	FBXO17	44100288	0.836000	0.29430	0.951000	0.38953	0.476000	0.33039	3.205000	0.51090	2.258000	0.74832	0.479000	0.44913	CCT	SARS2	-	pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1	ENSG00000104835		0.632	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SARS2	HGNC	protein_coding	OTTHUMT00000463139.1		0.00	33	0	G	NM_017827		39408448	-1			no_errors	ENST00000600042	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.349	T
SCN4A	6329	genome.wustl.edu	37	17	62019124	62019124	+	Silent	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:62019124G>A	ENST00000435607.1	-	24	4594	c.4518C>T	c.(4516-4518)taC>taT	p.Y1506Y	SCN4A_ENST00000578147.1_Silent_p.Y1506Y	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1506					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTTCTTGACGTAGGCAAAGT	0.552																																																	0													138.0	130.0	133.0					17																	62019124		2203	4300	6503	SO:0001819	synonymous_variant	0			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4518C>T	17.37:g.62019124G>A			Q15478|Q16447|Q7Z6B1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.Y1506	ENST00000435607.1	37	c.4518	CCDS45761.1	17																																																																																			SCN4A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000007314		0.552	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		-	0.00	71	0	G	NM_000334		62019124	-1	tier1	-	no_errors	ENST00000435607	ensembl	human	known	74_37	silent	27.12	43	16	SNP	1.000	A
SDK1	221935	genome.wustl.edu	37	7	3990593	3990593	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:3990593G>T	ENST00000404826.2	+	6	1025	c.886G>T	c.(886-888)Gtg>Ttg	p.V296L	SDK1_ENST00000389531.3_Missense_Mutation_p.V296L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	296	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCAACCATTGTGGTTCCCCC	0.552																																																	0													103.0	78.0	87.0					7																	3990593		2203	4300	6503	SO:0001583	missense	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.886G>T	7.37:g.3990593G>T	ENSP00000385899:p.Val296Leu		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V296L	ENST00000404826.2	37	c.886	CCDS34590.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.91|18.91	3.723522|3.723522	0.68959|0.68959	.|.	.|.	ENSG00000146555|ENSG00000146555	ENST00000426596|ENST00000404826;ENST00000389531	.|T;T	.|0.03094	.|4.05;4.05	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.64402	.|D	.|0.000013	T|T	0.13841|0.13841	0.0335|0.0335	L|L	0.42632|0.42632	1.34|1.34	0.47994|0.47994	D|D	0.999561|0.999561	.|D	.|0.71674	.|0.998	.|D	.|0.83275	.|0.996	T|T	0.00300|0.00300	-1.1835|-1.1835	5|10	.|0.62326	.|D	.|0.03	.|.	17.8203|17.8203	0.88648|0.88648	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|296	.|Q7Z5N4	.|SDK1_HUMAN	F|L	14|296	.|ENSP00000385899:V296L;ENSP00000374182:V296L	.|ENSP00000374182:V296L	L|V	+|+	3|1	2|0	SDK1|SDK1	3957119|3957119	1.000000|1.000000	0.71417|0.71417	0.308000|0.308000	0.25141|0.25141	0.514000|0.514000	0.34195|0.34195	4.957000|4.957000	0.63652|0.63652	2.632000|2.632000	0.89209|0.89209	0.655000|0.655000	0.94253|0.94253	TTG|GTG	SDK1	-	pfscan_Ig-like_dom	ENSG00000146555		0.552	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1		0.00	56	0	G	NM_152744		3990593	+1			no_errors	ENST00000404826	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.970	T
SEC31A	22872	genome.wustl.edu	37	4	83772725	83772725	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr4:83772725delT	ENST00000395310.2	-	19	2369	c.2187delA	c.(2185-2187)aaafs	p.K729fs	SEC31A_ENST00000508479.1_Frame_Shift_Del_p.K729fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.K690fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.K729fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.K729fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.K690fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.K690fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.K729fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.K729fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.K729fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.K690fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.K724fs|SEC31A_ENST00000432794.1_Frame_Shift_Del_p.K729fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.K690fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.K462fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.K729fs	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	729					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GTTGCACAGCTTTTCGCAGGA	0.423																																																	0													100.0	86.0	91.0					4																	83772725		2203	4300	6503	SO:0001589	frameshift_variant	0			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.2187delA	4.37:g.83772725delT	ENSP00000378721:p.Lys729fs		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A730fs	ENST00000395310.2	37	c.2187	CCDS3596.1	4																																																																																			SEC31A	-	NULL	ENSG00000138674		0.423	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEC31A	HGNC	protein_coding	OTTHUMT00000252640.1		0.00	27	0	T	NM_016211		83772725	-1	tier1		no_errors	ENST00000432794	ensembl	human	known	74_37	frame_shift_del	10.00	18	2	DEL	0.780	-
SEL1L	6400	genome.wustl.edu	37	14	81943463	81943463	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr14:81943463G>T	ENST00000336735.4	-	21	2354	c.2238C>A	c.(2236-2238)taC>taA	p.Y746*		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	746	Mediates retention to the endoplasmic reticulum.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TGGTCATGAGGTAAAGGTCCC	0.473																																																	0													116.0	106.0	109.0					14																	81943463		2203	4300	6503	SO:0001587	stop_gained	0				CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.2238C>A	14.37:g.81943463G>T	ENSP00000337053:p.Tyr746*		Q6UWT6|Q9P1T9|Q9UHK7	Nonsense_Mutation	SNP	pfam_Sel1-like,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_Sel1-like,pfscan_FN_type2_col-bd	p.Y746*	ENST00000336735.4	37	c.2238	CCDS9876.1	14	.	.	.	.	.	.	.	.	.	.	G	39	7.711881	0.98447	.	.	ENSG00000071537	ENST00000336735	.	.	.	5.72	4.81	0.61882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6479	0.77068	0.0689:0.0:0.9311:0.0	.	.	.	.	X	746	.	ENSP00000337053:Y746X	Y	-	3	2	SEL1L	81013216	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.044000	0.71012	2.865000	0.98341	0.655000	0.94253	TAC	SEL1L	-	NULL	ENSG00000071537		0.473	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L	HGNC	protein_coding	OTTHUMT00000413325.1		0.00	62	0	G	NM_005065		81943463	-1			no_errors	ENST00000336735	ensembl	human	known	74_37	nonsense	5.45	52	3	SNP	1.000	T
SF3B3	23450	genome.wustl.edu	37	16	70590174	70590174	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:70590174G>T	ENST00000302516.5	+	14	2014	c.1803G>T	c.(1801-1803)cgG>cgT	p.R601R		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	601					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GAGAGCAGCGGTCTCGCTTCC	0.537																																																	0													240.0	195.0	210.0					16																	70590174		2198	4300	6498	SO:0001819	synonymous_variant	0			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1803G>T	16.37:g.70590174G>T			Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom	p.R601	ENST00000302516.5	37	c.1803	CCDS10894.1	16																																																																																			SF3B3	-	superfamily_WD40_repeat_dom	ENSG00000189091		0.537	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B3	HGNC	protein_coding	OTTHUMT00000268972.1	-	0.00	46	0	G	NM_012426		70590174	+1	tier1	-	no_errors	ENST00000302516	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.964	T
SHARPIN	81858	genome.wustl.edu	37	8	145154940	145154940	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr8:145154940G>T	ENST00000398712.2	-	3	845	c.409C>A	c.(409-411)Cca>Aca	p.P137T	SHARPIN_ENST00000533948.1_5'UTR	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	137	Self-association. {ECO:0000250}.				apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CATGCTTCTGGGCCCAAGGCT	0.602																																																	0													216.0	226.0	223.0					8																	145154940		2168	4265	6433	SO:0001583	missense	0			AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.409C>A	8.37:g.145154940G>T	ENSP00000381698:p.Pro137Thr		A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Missense_Mutation	SNP	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.P137T	ENST00000398712.2	37	c.409	CCDS43777.1	8	.	.	.	.	.	.	.	.	.	.	G	8.892	0.954244	0.18431	.	.	ENSG00000179526	ENST00000398712;ENST00000359551	T;T	0.47177	1.52;0.85	3.82	0.91	0.19337	.	1.077510	0.07192	N	0.855922	T	0.63873	0.2548	M	0.73598	2.24	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.44406	-0.9330	10	0.72032	D	0.01	.	3.2708	0.06882	0.2282:0.0:0.567:0.2048	.	137	Q9H0F6	SHRPN_HUMAN	T	137	ENSP00000381698:P137T;ENSP00000352551:P137T	ENSP00000352551:P137T	P	-	1	0	SHARPIN	145226928	0.001000	0.12720	0.278000	0.24718	0.103000	0.19146	0.097000	0.15168	0.069000	0.16605	0.462000	0.41574	CCA	SHARPIN	-	NULL	ENSG00000179526		0.602	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHARPIN	HGNC	protein_coding	OTTHUMT00000382901.1	-	0.00	47	0	G	NM_030974		145154940	-1	tier1	-	no_errors	ENST00000398712	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.180	T
SHOC2	8036	genome.wustl.edu	37	10	112764519	112764519	+	Silent	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:112764519C>A	ENST00000369452.4	+	5	1473	c.1128C>A	c.(1126-1128)tcC>tcA	p.S376S	SHOC2_ENST00000489390.1_3'UTR|SHOC2_ENST00000265277.5_Silent_p.S330S	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	376					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GAATTTTCTCCAGAGCAAAAG	0.348																																																	0													50.0	49.0	50.0					10																	112764519		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.1128C>A	10.37:g.112764519C>A			A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S376	ENST00000369452.4	37	c.1128	CCDS7568.1	10																																																																																			SHOC2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000108061		0.348	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHOC2	HGNC	protein_coding	OTTHUMT00000050355.1		0.00	50	0	C	NM_007373		112764519	+1			no_errors	ENST00000369452	ensembl	human	known	74_37	silent	5.45	51	3	SNP	0.995	A
SIRT3	23410	genome.wustl.edu	37	11	233095	233095	+	Missense_Mutation	SNP	C	C	A	rs201359613		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:233095C>A	ENST00000382743.4	-	3	696	c.594G>T	c.(592-594)gaG>gaT	p.E198D	SIRT3_ENST00000524564.1_Missense_Mutation_p.E134D|SIRT3_ENST00000532956.1_Missense_Mutation_p.E198D|SIRT3_ENST00000528702.1_5'UTR|SIRT3_ENST00000525319.1_Missense_Mutation_p.E117D|SIRT3_ENST00000529382.1_Missense_Mutation_p.E56D	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	198	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		CAGGGTACAGCTCCTTGGCCA	0.527																																																	0													106.0	105.0	105.0					11																	233095		2203	4300	6503	SO:0001583	missense	0			AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3"", ""sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"""			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.594G>T	11.37:g.233095C>A	ENSP00000372191:p.Glu198Asp		B7Z5U6|Q9Y6E8	Missense_Mutation	SNP	pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom	p.E198D	ENST00000382743.4	37	c.594	CCDS7691.1	11	.	.	.	.	.	.	.	.	.	.	c	15.29	2.788831	0.49997	.	.	ENSG00000142082	ENST00000382743;ENST00000525319;ENST00000524564;ENST00000532956;ENST00000529382;ENST00000528469	T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19	5.37	1.41	0.22369	.	0.197629	0.46145	D	0.000319	T	0.16599	0.0399	L	0.41961	1.31	0.38413	D	0.945981	B;B;B;B;B	0.21147	0.002;0.052;0.004;0.047;0.045	B;B;B;B;B	0.28849	0.007;0.095;0.033;0.043;0.029	T	0.07028	-1.0794	10	0.52906	T	0.07	-21.3376	4.9589	0.14056	0.1335:0.5719:0.0:0.2945	.	198;198;117;134;198	E9PM75;B7Z7G4;E9PK80;E9PN58;Q9NTG7	.;.;.;.;SIRT3_HUMAN	D	198;117;134;198;56;56	ENSP00000372191:E198D;ENSP00000435464:E117D;ENSP00000432937:E134D;ENSP00000433077:E198D;ENSP00000437216:E56D;ENSP00000432857:E56D	ENSP00000372191:E198D	E	-	3	2	SIRT3	223095	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.035000	0.41155	0.271000	0.22005	-0.156000	0.13503	GAG	SIRT3	-	pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom	ENSG00000142082		0.527	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT3	HGNC	protein_coding	OTTHUMT00000239288.3	-	0.00	63	0	C			233095	-1	tier1	-	no_errors	ENST00000382743	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A
SKI	6497	genome.wustl.edu	37	1	2234478	2234478	+	Missense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:2234478C>A	ENST00000378536.4	+	2	1103	c.1031C>A	c.(1030-1032)cCc>cAc	p.P344H	SKI_ENST00000478223.2_3'UTR	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	344					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		TCCCAGTCCCCCGCGCCTTCC	0.602																																					Ovarian(177;144 1678 13697 20086 27838 40755)												0													69.0	77.0	74.0					1																	2234478		2203	4300	6503	SO:0001583	missense	0			X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.1031C>A	1.37:g.2234478C>A	ENSP00000367797:p.Pro344His		Q5SYT7	Missense_Mutation	SNP	pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put	p.P344H	ENST00000378536.4	37	c.1031	CCDS39.1	1	.	.	.	.	.	.	.	.	.	.	c	14.16	2.451943	0.43531	.	.	ENSG00000157933	ENST00000378536	D	0.96200	-3.94	4.56	3.63	0.41609	.	0.185480	0.47093	D	0.000247	D	0.95875	0.8657	L	0.57536	1.79	0.42341	D	0.992336	D	0.61080	0.989	P	0.59012	0.85	D	0.94795	0.7965	10	0.41790	T	0.15	-16.7537	12.3034	0.54887	0.0:0.8293:0.1707:0.0	.	344	P12755	SKI_HUMAN	H	344	ENSP00000367797:P344H	ENSP00000367797:P344H	P	+	2	0	SKI	2224338	0.994000	0.37717	0.378000	0.26068	0.885000	0.51271	3.298000	0.51818	1.008000	0.39264	-0.313000	0.08912	CCC	SKI	-	NULL	ENSG00000157933		0.602	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKI	HGNC	protein_coding	OTTHUMT00000004070.1	-	0.00	46	0	C	NM_003036		2234478	+1	tier1	-	no_errors	ENST00000378536	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.911	A
SLC10A6	345274	genome.wustl.edu	37	4	87769968	87769968	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr4:87769968G>T	ENST00000273905.6	-	1	448	c.301C>A	c.(301-303)Ctc>Atc	p.L101I	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	101					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CCCATGATGAGAACAGCAATA	0.512																																																	0													69.0	71.0	70.0					4																	87769968		2203	4300	6503	SO:0001583	missense	0			AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.301C>A	4.37:g.87769968G>T	ENSP00000273905:p.Leu101Ile		Q70EX7	Missense_Mutation	SNP	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.L101I	ENST00000273905.6	37	c.301	CCDS3614.1	4	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826282	0.71143	.	.	ENSG00000145283	ENST00000273905	T	0.06687	3.27	5.85	5.85	0.93711	.	0.095566	0.42682	D	0.000669	T	0.13628	0.0330	L	0.39692	1.235	0.35117	D	0.76665	P	0.50617	0.937	P	0.55577	0.779	T	0.15983	-1.0418	10	0.18710	T	0.47	-6.65	11.0038	0.47622	0.084:0.0:0.916:0.0	.	101	Q3KNW5	SOAT_HUMAN	I	101	ENSP00000273905:L101I	ENSP00000273905:L101I	L	-	1	0	SLC10A6	87988992	1.000000	0.71417	0.968000	0.41197	0.879000	0.50718	1.936000	0.40183	2.768000	0.95171	0.655000	0.94253	CTC	SLC10A6	-	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	ENSG00000145283		0.512	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A6	HGNC	protein_coding	OTTHUMT00000253043.2	-	0.00	40	0	G	NM_197965		87769968	-1	tier1	-	no_errors	ENST00000273905	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T
SLC26A4	5172	genome.wustl.edu	37	7	107303846	107303846	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:107303846G>T	ENST00000265715.3	+	3	494	c.270G>T	c.(268-270)tcG>tcT	p.S90S	SLC26A4-AS1_ENST00000591896.1_RNA|SLC26A4-AS1_ENST00000440512.1_RNA|SLC26A4-AS1_ENST00000587899.1_RNA|SLC26A4-AS1_ENST00000449741.1_RNA	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	90			S -> L (in DFNB4). {ECO:0000269|PubMed:12676893}.		chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ACGTCATTTCGGGAGTTAGTA	0.507									Pendred syndrome																																								0													157.0	127.0	137.0					7																	107303846		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.270G>T	7.37:g.107303846G>T			B7Z266|O43170	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.S90	ENST00000265715.3	37	c.270	CCDS5746.1	7																																																																																			SLC26A4	-	tigrfam_SulP_transpt	ENSG00000091137		0.507	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A4	HGNC	protein_coding	OTTHUMT00000337148.1	-	0.00	60	0	G	NM_000441		107303846	+1	tier1	-	no_errors	ENST00000265715	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.009	T
SLC4A1	6521	genome.wustl.edu	37	17	42336630	42336630	+	Silent	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:42336630C>A	ENST00000262418.6	-	9	932	c.777G>T	c.(775-777)ccG>ccT	p.P259P	SLC4A1_ENST00000471005.1_5'Flank|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	259	Globular.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.P259P(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTATAGGCACCGGCAGCTCCA	0.652																																																	1	Substitution - coding silent(1)	lung(1)											32.0	34.0	33.0					17																	42336630		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.777G>T	17.37:g.42336630C>A			G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk	p.P259	ENST00000262418.6	37	c.777	CCDS11481.1	17																																																																																			SLC4A1	-	pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	ENSG00000004939		0.652	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1	HGNC	protein_coding	OTTHUMT00000346194.1		0.00	51	0	C	NM_000342		42336630	-1			no_errors	ENST00000262418	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.000	A
SLC6A10P	386757	genome.wustl.edu	37	16	32889061	32889061	+	RNA	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:32889061C>A	ENST00000330048.5	-	0	3574					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		GGTCCCTTCCCGGGGGTGTGC	0.627																																																	0																																												0			U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32889061C>A				RNA	SNP	-	NULL	ENST00000330048.5	37	NULL		16																																																																																			SLC6A10P	-	-	ENSG00000214617		0.627	SLC6A10P-002	KNOWN	basic	processed_transcript	SLC6A10P	HGNC	pseudogene	OTTHUMT00000432081.2	-	0.00	94	0	C			32889061	-1	tier1	-	no_errors	ENST00000330048	ensembl	human	known	74_37	rna	11.24	79	10	SNP	0.001	A
SLC6A18	348932	genome.wustl.edu	37	5	1244805	1244805	+	Silent	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:1244805C>T	ENST00000324642.3	+	11	1702	c.1579C>T	c.(1579-1581)Ctg>Ttg	p.L527L		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	527					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CAGTCCCCTGCTGCTGACCAT	0.597																																																	0													67.0	66.0	66.0					5																	1244805		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1579C>T	5.37:g.1244805C>T				Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.L527	ENST00000324642.3	37	c.1579	CCDS3860.1	5																																																																																			SLC6A18	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000164363		0.597	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A18	HGNC	protein_coding	OTTHUMT00000206728.3	-	0.00	37	0	C	NM_182632		1244805	+1	tier1	-	no_errors	ENST00000324642	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.956	T
SMARCD1	6602	genome.wustl.edu	37	12	50483697	50483697	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:50483697G>T	ENST00000394963.4	+	7	1200	c.802G>T	c.(802-804)Gat>Tat	p.D268Y	SMARCD1_ENST00000548573.1_Missense_Mutation_p.D66Y|SMARCD1_ENST00000381513.4_Missense_Mutation_p.D268Y	NM_003076.4	NP_003067.3			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1											NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CCAGGAGACCGATGGCTTTCA	0.582																																																	0													180.0	157.0	165.0					12																	50483697		2203	4300	6503	SO:0001583	missense	0			U66617	CCDS8797.2, CCDS8798.2	12q13-q14	2008-08-05			ENSG00000066117	ENSG00000066117			11106	protein-coding gene	gene with protein product		601735				8804307, 9693044, 12917342	Standard	NM_003076		Approved	BAF60A, Rsc6p, CRACD1	uc001rvx.4	Q96GM5	OTTHUMG00000150194	ENST00000394963.4:c.802G>T	12.37:g.50483697G>T	ENSP00000378414:p.Asp268Tyr			Missense_Mutation	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	p.D268Y	ENST00000394963.4	37	c.802	CCDS8797.2	12	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649266	0.87958	.	.	ENSG00000066117	ENST00000394963;ENST00000381513;ENST00000551966;ENST00000550477;ENST00000542914;ENST00000548573	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.83562	0.5281	H	0.94264	3.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.87339	0.2330	10	0.87932	D	0	-13.9295	19.5787	0.95455	0.0:0.0:1.0:0.0	.	66;268;268	F8VRQ4;Q96GM5-2;Q96GM5	.;.;SMRD1_HUMAN	Y	268;268;227;188;44;66	ENSP00000378414:D268Y;ENSP00000370924:D268Y;ENSP00000447386:D227Y;ENSP00000448627:D66Y	ENSP00000370924:D268Y	D	+	1	0	SMARCD1	48769964	1.000000	0.71417	0.913000	0.36048	0.991000	0.79684	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	GAT	SMARCD1	-	NULL	ENSG00000066117		0.582	SMARCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCD1	HGNC	protein_coding	OTTHUMT00000316759.2	-	0.00	41	0	G	NM_003076		50483697	+1	tier1	-	no_errors	ENST00000394963	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T
SMARCD3	6604	genome.wustl.edu	37	7	150939280	150939280	+	Missense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:150939280C>A	ENST00000262188.8	-	6	1028	c.618G>T	c.(616-618)aaG>aaT	p.K206N	SMARCD3_ENST00000356800.2_Missense_Mutation_p.K193N|SMARCD3_ENST00000392811.2_Missense_Mutation_p.K193N|RP4-548D19.3_ENST00000607902.1_RNA|SMARCD3_ENST00000477169.1_5'UTR	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	206					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGACCAAACTCTTGAAGAAAG	0.552																																																	0													97.0	103.0	101.0					7																	150939280		2203	4300	6503	SO:0001583	missense	0			U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60C"", ""Swp73-like protein"", ""SWI/SNF complex 60 kDa subunit C"", ""60kDa BRG-1/Brm associated factor subunit c"""	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.618G>T	7.37:g.150939280C>A	ENSP00000262188:p.Lys206Asn		D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Missense_Mutation	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	p.K206N	ENST00000262188.8	37	c.618	CCDS34780.1	7	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399810	0.83120	.	.	ENSG00000082014	ENST00000262188;ENST00000392811;ENST00000356800;ENST00000347683	T;T;T	0.55234	0.53;0.53;0.53	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.76256	0.3962	M	0.87269	2.87	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;0.989;1.0	D;D;D;D	0.87578	0.987;0.998;0.978;0.996	T	0.81265	-0.1011	10	0.87932	D	0	-25.7473	15.9814	0.80114	0.0:1.0:0.0:0.0	.	206;206;193;206	B7Z4U8;B7ZA58;Q6STE5-2;Q6STE5	.;.;.;SMRD3_HUMAN	N	206;193;193;158	ENSP00000262188:K206N;ENSP00000376558:K193N;ENSP00000349254:K193N	ENSP00000262188:K206N	K	-	3	2	SMARCD3	150570213	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.731000	0.38135	2.353000	0.79882	0.462000	0.41574	AAG	SMARCD3	-	NULL	ENSG00000082014		0.552	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCD3	HGNC	protein_coding	OTTHUMT00000348825.1		0.00	55	0	C	NM_001003801		150939280	-1			no_errors	ENST00000262188	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	A
SMG7	9887	genome.wustl.edu	37	1	183510187	183510187	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:183510187G>T	ENST00000347615.2	+	13	1483	c.1364G>T	c.(1363-1365)cGa>cTa	p.R455L	SMG7_ENST00000456731.2_Missense_Mutation_p.R413L|SMG7_ENST00000507469.1_Missense_Mutation_p.R455L|SMG7_ENST00000515829.2_Missense_Mutation_p.R455L|SMG7_ENST00000508461.1_Missense_Mutation_p.R413L|SMG7_ENST00000367537.3_Missense_Mutation_p.R484L	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	455					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.R455Q(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CGACGAATACGACAGCAACGC	0.413																																																	1	Substitution - Missense(1)	large_intestine(1)											179.0	167.0	171.0					1																	183510187		2203	4300	6503	SO:0001583	missense	0			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1364G>T	1.37:g.183510187G>T	ENSP00000340766:p.Arg455Leu		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	pfam_EST1	p.R455L	ENST00000347615.2	37	c.1364	CCDS1355.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.231863	0.95207	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	N	0.24115	0.695	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.997;0.997;0.997;0.998;0.997;0.997	T	0.44952	-0.9294	10	0.66056	D	0.02	-12.548	19.8215	0.96599	0.0:0.0:1.0:0.0	.	413;484;413;455;455;455	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	L	413;484;413;413;455;455;455	ENSP00000407629:R413L;ENSP00000356507:R484L;ENSP00000426915:R413L;ENSP00000388390:R413L;ENSP00000340766:R455L;ENSP00000425133:R455L;ENSP00000421358:R455L	ENSP00000340766:R455L	R	+	2	0	SMG7	181776810	1.000000	0.71417	0.976000	0.42696	0.891000	0.51852	7.003000	0.76310	2.679000	0.91253	0.650000	0.86243	CGA	SMG7	-	NULL	ENSG00000116698		0.413	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	HGNC	protein_coding	OTTHUMT00000085432.1		0.00	72	0	G	NM_014837		183510187	+1			no_errors	ENST00000507469	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T
SNHG14	104472715	genome.wustl.edu	37	15	25339273	25339273	+	RNA	SNP	T	T	C			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:25339273T>C	ENST00000546682.1	+	0	1110				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-23_ENST00000384645.1_RNA|SNORD116-24_ENST00000384549.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGAACTGAGGTCCAGCACATT	0.458																																																	0													188.0	165.0	172.0					15																	25339273		876	1991	2867			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25339273T>C				RNA	SNP	-	NULL	ENST00000546682.1	37	NULL		15																																																																																			SNORD116-24	-	-	ENSG00000207279		0.458	SNHG14-022	KNOWN	basic	antisense	SNORD116-24	HGNC	processed_transcript	OTTHUMT00000408281.1	-	0.00	122	0	T			25339273	+1	tier1	-	no_errors	ENST00000384549	ensembl	human	known	74_37	rna	22.12	88	25	SNP	0.859	C
SNRNP40	9410	genome.wustl.edu	37	1	31766179	31766179	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:31766179G>T	ENST00000263694.4	-	2	176	c.158C>A	c.(157-159)tCc>tAc	p.S53Y	SNRNP40_ENST00000446633.2_Missense_Mutation_p.S53Y	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	53					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						TTGAAGGGAGGAACATCTTGG	0.498																																																	0													78.0	65.0	70.0					1																	31766179		2203	4300	6503	SO:0001583	missense	0			AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"""WD repeat domain containing"""	30857	protein-coding gene	gene with protein product		607797	"""WD repeat domain 57 (U5 snRNP specific)"""	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.158C>A	1.37:g.31766179G>T	ENSP00000263694:p.Ser53Tyr		B4DQJ1|O75938|O95320	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S53Y	ENST00000263694.4	37	c.158	CCDS340.1	1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912653	0.92178	.	.	ENSG00000060688	ENST00000263694;ENST00000446633	T;T	0.57436	0.4;0.44	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.56292	0.1975	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	T	0.67608	-0.5627	10	0.87932	D	0	.	19.0483	0.93030	0.0:0.0:1.0:0.0	.	53;53	B4DQJ1;Q96DI7	.;SNR40_HUMAN	Y	53	ENSP00000263694:S53Y;ENSP00000406841:S53Y	ENSP00000263694:S53Y	S	-	2	0	SNRNP40	31538766	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.725000	0.98778	2.495000	0.84180	0.655000	0.94253	TCC	SNRNP40	-	NULL	ENSG00000060688		0.498	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP40	HGNC	protein_coding	OTTHUMT00000010657.1	-	0.00	46	0	G	NM_004814		31766179	-1	tier1	-	no_errors	ENST00000446633	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T
SP140L	93349	genome.wustl.edu	37	2	231235679	231235679	+	Missense_Mutation	SNP	A	A	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:231235679A>G	ENST00000415673.2	+	6	666	c.580A>G	c.(580-582)Atg>Gtg	p.M194V	SP140L_ENST00000458341.1_Missense_Mutation_p.M107V|SP140L_ENST00000243810.6_Missense_Mutation_p.M194V|SP140L_ENST00000444636.1_Missense_Mutation_p.M194V|SP140L_ENST00000396563.4_Missense_Mutation_p.M194V	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	194						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						ATGTGGCAAAATGGGTAAGGC	0.557																																																	0													77.0	82.0	80.0					2																	231235679		1985	4155	6140	SO:0001583	missense	0			BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"""Zinc fingers, PHD-type"""	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.580A>G	2.37:g.231235679A>G	ENSP00000397911:p.Met194Val		Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain	p.M194V	ENST00000415673.2	37	c.580	CCDS46538.1	2	.	.	.	.	.	.	.	.	.	.	A	4.093	0.015208	0.07959	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563;ENST00000458341	D;T;D;D;T	0.84660	-1.62;-1.24;-1.62;-1.88;0.84	2.11	-0.396	0.12427	.	.	.	.	.	T	0.71367	0.3331	L	0.31752	0.955	0.09310	N	1	B;B;B	0.10296	0.003;0.0;0.003	B;B;B	0.11329	0.006;0.001;0.004	T	0.52711	-0.8539	9	0.18276	T	0.48	.	4.4205	0.11477	0.6415:0.0:0.3585:0.0	.	194;107;194	Q9H930-2;Q9H930-3;Q9H930-4	.;.;.	V	194;194;194;194;107	ENSP00000395195:M194V;ENSP00000397911:M194V;ENSP00000243810:M194V;ENSP00000379811:M194V;ENSP00000395223:M107V	ENSP00000243810:M194V	M	+	1	0	SP140L	230943923	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	0.722000	0.25925	-0.105000	0.12132	-0.736000	0.03550	ATG	SP140L	-	NULL	ENSG00000185404		0.557	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SP140L	HGNC	protein_coding	OTTHUMT00000374538.1	-	0.00	45	0	A	NM_138402		231235679	+1	tier1	-	no_errors	ENST00000415673	ensembl	human	known	74_37	missense	21.74	36	10	SNP	0.000	G
SPDL1	54908	genome.wustl.edu	37	5	169015514	169015514	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:169015514G>T	ENST00000265295.4	+	2	373	c.94G>T	c.(94-96)Gag>Tag	p.E32*	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		ACAACTAGTAGAGAGTCAAAA	0.408																																																	0													105.0	100.0	102.0					5																	169015514		2203	4300	6503	SO:0001587	stop_gained	0			BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.94G>T	5.37:g.169015514G>T	ENSP00000265295:p.Glu32*			Nonsense_Mutation	SNP	NULL	p.E32*	ENST00000265295.4	37	c.94	CCDS4370.1	5	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635686	0.67130	.	.	ENSG00000040275	ENST00000265295;ENST00000274631;ENST00000506574;ENST00000515224;ENST00000508247;ENST00000513941;ENST00000513795	.	.	.	5.51	4.62	0.57501	.	0.098565	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-20.2094	16.525	0.84328	0.0:0.1311:0.8689:0.0	.	.	.	.	X	32	.	ENSP00000265295:E32X	E	+	1	0	CCDC99	168948092	1.000000	0.71417	0.891000	0.34965	0.036000	0.12997	5.949000	0.70257	1.428000	0.47296	0.655000	0.94253	GAG	SPDL1	-	NULL	ENSG00000040275		0.408	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDL1	HGNC	protein_coding	OTTHUMT00000252829.2		0.00	42	0	G	NM_017785		169015514	+1			no_errors	ENST00000265295	ensembl	human	known	74_37	nonsense	8.57	32	3	SNP	1.000	T
SPHKAP	80309	genome.wustl.edu	37	2	228883255	228883255	+	Missense_Mutation	SNP	G	G	T	rs201294750		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:228883255G>T	ENST00000392056.3	-	7	2361	c.2315C>A	c.(2314-2316)tCt>tAt	p.S772Y	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S772Y	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	772						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCTAAGTGGAGAGCTGCTGGA	0.502																																																	0													207.0	206.0	207.0					2																	228883255		2203	4300	6503	SO:0001583	missense	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2315C>A	2.37:g.228883255G>T	ENSP00000375909:p.Ser772Tyr		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.S772Y	ENST00000392056.3	37	c.2315	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.769337	0.00645	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12672	2.66;2.66	5.67	0.265	0.15612	.	0.674727	0.15631	N	0.252383	T	0.07728	0.0194	N	0.22421	0.69	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.0;0.004	T	0.29488	-1.0010	10	0.39692	T	0.17	.	5.4455	0.16533	0.0:0.2614:0.2715:0.4671	.	772;772	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	Y	772	ENSP00000375909:S772Y;ENSP00000339886:S772Y	ENSP00000339886:S772Y	S	-	2	0	SPHKAP	228591499	0.001000	0.12720	0.008000	0.14137	0.082000	0.17680	0.474000	0.22148	0.166000	0.19597	-1.085000	0.02201	TCT	SPHKAP	-	NULL	ENSG00000153820		0.502	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1		0.00	18	0	G	NM_030623		228883255	-1			no_errors	ENST00000392056	ensembl	human	known	74_37	missense	8.33	33	3	SNP	0.000	T
SPNS3	201305	genome.wustl.edu	37	17	4356362	4356362	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:4356362G>T	ENST00000355530.2	+	8	1255	c.975G>T	c.(973-975)ttG>ttT	p.L325F	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Missense_Mutation_p.L198F	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	325					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GGGTCATCTTGGGGGCAGAAG	0.587																																																	0													101.0	95.0	97.0					17																	4356362		2203	4300	6503	SO:0001583	missense	0				CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.975G>T	17.37:g.4356362G>T	ENSP00000347721:p.Leu325Phe		Q8IZ31	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L325F	ENST00000355530.2	37	c.975	CCDS11045.1	17	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004617	0.35320	.	.	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.59772	0.24;0.24	4.68	3.69	0.42338	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.991853	0.08183	N	0.985172	T	0.67277	0.2876	M	0.64404	1.975	0.40370	D	0.979331	P;B	0.48016	0.904;0.106	P;B	0.55999	0.789;0.213	T	0.66752	-0.5844	10	0.72032	D	0.01	-3.2251	7.2671	0.26235	0.0985:0.1758:0.7257:0.0	.	198;325	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	F	325;198	ENSP00000347721:L325F;ENSP00000333207:L198F	ENSP00000333207:L198F	L	+	3	2	SPNS3	4303111	0.798000	0.28890	0.996000	0.52242	0.653000	0.38743	0.128000	0.15810	2.351000	0.79841	0.442000	0.29010	TTG	SPNS3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000182557		0.587	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS3	HGNC	protein_coding	OTTHUMT00000438793.1	-	0.00	38	0	G	NM_182538		4356362	+1	tier1	-	no_errors	ENST00000355530	ensembl	human	known	74_37	missense	6.67	55	4	SNP	0.965	T
SPRED1	161742	genome.wustl.edu	37	15	38643390	38643390	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:38643390G>T	ENST00000299084.4	+	7	1720	c.860G>T	c.(859-861)aGt>aTt	p.S287I		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	287					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AAACCAGACAGTAAAAAATCA	0.383									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)												0													79.0	79.0	79.0					15																	38643390		2200	4297	6497	SO:0001583	missense	0	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.860G>T	15.37:g.38643390G>T	ENSP00000299084:p.Ser287Ile		B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1	p.S287I	ENST00000299084.4	37	c.860	CCDS32193.1	15	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498575	0.26861	.	.	ENSG00000166068	ENST00000299084	D	0.85339	-1.97	5.93	0.795	0.18643	.	0.188255	0.64402	D	0.000002	T	0.77405	0.4125	L	0.50333	1.59	0.41499	D	0.988276	B	0.26400	0.148	B	0.23852	0.049	T	0.68754	-0.5325	10	0.54805	T	0.06	-2.45	6.7643	0.23558	0.3167:0.1112:0.5721:0.0	.	287	Q7Z699	SPRE1_HUMAN	I	287	ENSP00000299084:S287I	ENSP00000299084:S287I	S	+	2	0	SPRED1	36430682	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	1.237000	0.32695	0.128000	0.18479	0.644000	0.83932	AGT	SPRED1	-	NULL	ENSG00000166068		0.383	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRED1	HGNC	protein_coding	OTTHUMT00000418217.1	-	0.00	81	0	G			38643390	+1	tier1	-	no_errors	ENST00000299084	ensembl	human	known	74_37	missense	5.68	83	5	SNP	1.000	T
SPZ1	84654	genome.wustl.edu	37	5	79617017	79617017	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:79617017G>T	ENST00000296739.4	+	1	1228	c.983G>T	c.(982-984)tGc>tTc	p.C328F		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	328					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		GAGAATGAATGCCAAATCTTA	0.433																																																	0													122.0	116.0	118.0					5																	79617017		1906	4131	6037	SO:0001583	missense	0				CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.983G>T	5.37:g.79617017G>T	ENSP00000369611:p.Cys328Phe		B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	NULL	p.C328F	ENST00000296739.4	37	c.983	CCDS43336.1	5	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213087	0.39102	.	.	ENSG00000164299	ENST00000296739	T	0.37411	1.2	4.5	3.63	0.41609	.	0.000000	0.53938	D	0.000052	T	0.46054	0.1373	L	0.55213	1.73	0.31918	N	0.613869	D	0.63880	0.993	D	0.63113	0.911	T	0.48625	-0.9019	10	0.13853	T	0.58	-6.6701	10.747	0.46187	0.0934:0.0:0.9066:0.0	.	328	Q9BXG8	SPZ1_HUMAN	F	328	ENSP00000369611:C328F	ENSP00000369611:C328F	C	+	2	0	SPZ1	79652773	1.000000	0.71417	0.969000	0.41365	0.313000	0.28021	3.887000	0.56197	1.499000	0.48617	0.557000	0.71058	TGC	SPZ1	-	NULL	ENSG00000164299		0.433	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPZ1	HGNC	protein_coding	OTTHUMT00000369322.1	-	0.00	21	0	G	NM_032567		79617017	+1	tier1	-	no_errors	ENST00000296739	ensembl	human	known	74_37	missense	38.89	11	7	SNP	0.955	T
SRP14-AS1	100131089	genome.wustl.edu	37	15	40357981	40357981	+	lincRNA	SNP	A	A	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:40357981A>T	ENST00000504245.1	+	0	807					NR_040060.1				SRP14 antisense RNA1 (head to head)																		AAAAAAAAAaattctggtcaa	0.358																																																	0																																												0					15q15.1	2013-05-24			ENSG00000248508	ENSG00000248508		"""Long non-coding RNAs"""	48619	non-coding RNA	RNA, long non-coding							Standard	NR_040059		Approved				OTTHUMG00000172392		15.37:g.40357981A>T				RNA	SNP	-	NULL	ENST00000504245.1	37	NULL		15																																																																																			SRP14-AS1	-	-	ENSG00000248508		0.358	SRP14-AS1-001	KNOWN	basic	lincRNA	SRP14-AS1	HGNC	lincRNA	OTTHUMT00000418269.1	-	0.00	44	0	A			40357981	+1	tier1	-	no_errors	ENST00000504245	ensembl	human	known	74_37	rna	7.94	58	5	SNP	0.040	T
SSU72	29101	genome.wustl.edu	37	1	1500170	1500172	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:1500170_1500172delAAG	ENST00000291386.3	-	2	516_518	c.205_207delCTT	c.(205-207)cttdel	p.L69del	SSU72_ENST00000359060.4_In_Frame_Del_p.L69del	NM_014188.2	NP_054907.1	Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	69					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|mRNA polyadenylation (GO:0006378)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TGTCTTTCCTAAGAAGATCATTG	0.507																																																	0																																										SO:0001651	inframe_deletion	0			AJ276409	CCDS32.1	1p36	2010-03-24	2006-04-04		ENSG00000160075	ENSG00000160075			25016	protein-coding gene	gene with protein product			"""Ssu72 RNA polymerase II CTD phosphatase homolog (yeast)"""			15125841, 15659578	Standard	NM_014188		Approved	HSPC182	uc001agd.3	Q9NP77	OTTHUMG00000000576	ENST00000291386.3:c.205_207delCTT	1.37:g.1500173_1500175delAAG	ENSP00000291386:p.Leu69del		Q9BZS6|Q9H933	In_Frame_Del	DEL	pfam_RNA_pol_II_suA,superfamily_Ptyr_pPase_SF	p.L69in_frame_del	ENST00000291386.3	37	c.207_205	CCDS32.1	1																																																																																			SSU72	-	pfam_RNA_pol_II_suA	ENSG00000160075		0.507	SSU72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSU72	HGNC	protein_coding	OTTHUMT00000001366.1		0.00	63	0	AAG	NM_014188		1500172	-1	tier1		no_errors	ENST00000291386	ensembl	human	known	74_37	in_frame_del	20.45	35	9	DEL	1.000:1.000:1.000	-
ST3GAL3	6487	genome.wustl.edu	37	1	44363949	44363949	+	Missense_Mutation	SNP	G	G	T	rs138616798		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:44363949G>T	ENST00000361392.4	+	7	617	c.440G>T	c.(439-441)cGc>cTc	p.R147L	ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R147L|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R147L|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R162L|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R146L|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R116L|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R147L|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R131L|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R185L|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R201L|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R131L|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R185L|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R216L|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R201L|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R131L|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000262915.3_Missense_Mutation_p.R216L|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R147L|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R146L|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R131L|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R116L|ST3GAL3_ENST00000361812.4_Intron	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	147					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)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				AAAGAGTACCGCCTGACCCCT	0.542																																																	0								G	LEU/ARG,LEU/ARG,LEU/ARG,,LEU/ARG,,LEU/ARG,LEU/ARG,,LEU/ARG	0,4406		0,0,2203	116.0	100.0	105.0		440,647,485,,440,,602,392,,554	3.7	1.0	1	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,intron,missense,intron,missense,missense,intron,missense	ST3GAL3	NM_006279.2,NM_174963.2,NM_174964.1,NM_174965.1,NM_174966.1,NM_174967.1,NM_174968.2,NM_174969.1,NM_174970.1,NM_174971.2	102,102,102,,102,,102,102,,102	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign,benign,benign,,benign,,benign,benign,,benign	147/376,216/445,162/391,,147/278,,201/430,131/360,,185/414	44363949	1,13005	2203	4300	6503	SO:0001583	missense	0			L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.440G>T	1.37:g.44363949G>T	ENSP00000355341:p.Arg147Leu		A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.R216L	ENST00000361392.4	37	c.647	CCDS492.1	1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110480	0.56398	0.0	1.16E-4	ENSG00000126091	ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000372374;ENST00000353126;ENST00000335430;ENST00000347631;ENST00000372369;ENST00000361746;ENST00000372367;ENST00000372366;ENST00000372365;ENST00000372368;ENST00000372372;ENST00000528371;ENST00000531993;ENST00000533933;ENST00000332628	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	4.57	3.65	0.41850	.	0.116434	0.64402	D	0.000012	T	0.37128	0.0992	L	0.31926	0.97	0.80722	D	1	B;P;P;P;P;P;B;B;P;B;P;B;P;B	0.48911	0.163;0.551;0.891;0.917;0.551;0.702;0.262;0.274;0.546;0.262;0.546;0.195;0.546;0.302	B;B;P;P;B;B;B;B;B;B;B;B;B;B	0.59288	0.198;0.184;0.535;0.855;0.184;0.413;0.13;0.229;0.325;0.13;0.229;0.206;0.229;0.36	T	0.03898	-1.0994	10	0.25106	T	0.35	.	12.538	0.56152	0.0827:0.0:0.9173:0.0	.	147;100;131;146;131;146;116;147;185;131;201;147;216;162	Q11203-5;Q11203-21;Q11203-17;Q11203-24;Q11203-16;Q11203-23;Q11203-7;Q11203-8;Q11203-19;Q11203-15;Q11203-13;Q11203;Q11203-4;Q5T4W8	.;.;.;.;.;.;.;.;.;.;.;SIAT6_HUMAN;.;.	L	147;131;216;201;185;116;147;131;162;147;216;146;146;147;201;185;131;131;147;116	ENSP00000355341:R147L;ENSP00000354748:R131L;ENSP00000262915:R216L;ENSP00000361450:R201L;ENSP00000316999:R185L;ENSP00000361449:R116L;ENSP00000330463:R147L;ENSP00000335633:R131L;ENSP00000317192:R162L;ENSP00000361444:R147L;ENSP00000354657:R216L;ENSP00000361442:R146L;ENSP00000361441:R146L;ENSP00000361440:R147L;ENSP00000361443:R201L;ENSP00000361447:R185L;ENSP00000434876:R131L;ENSP00000432682:R131L;ENSP00000432965:R147L;ENSP00000329755:R116L	ENSP00000262915:R216L	R	+	2	0	ST3GAL3	44136536	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.162000	0.50755	1.062000	0.40625	0.655000	0.94253	CGC	ST3GAL3	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000126091		0.542	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL3	HGNC	protein_coding	OTTHUMT00000019964.1		0.00	39	0	G	NM_174963		44363949	+1			no_errors	ENST00000262915	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T
ST6GAL2	84620	genome.wustl.edu	37	2	107460353	107460353	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:107460353G>T	ENST00000409382.3	-	2	691	c.81C>A	c.(79-81)ttC>ttA	p.F27L	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.F27L|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.F27L|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	27					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TGAAGTAGATGAAAATCAGCA	0.567																																																	0													41.0	49.0	46.0					2																	107460353		2203	4300	6503	SO:0001583	missense	0			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.81C>A	2.37:g.107460353G>T	ENSP00000386942:p.Phe27Leu		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl	p.F27L	ENST00000409382.3	37	c.81	CCDS2073.1	2	.	.	.	.	.	.	.	.	.	.	G	9.174	1.021847	0.19433	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087;ENST00000419159	T;T;T	0.23348	2.99;2.99;1.91	5.74	4.87	0.63330	.	0.047229	0.85682	D	0.000000	T	0.15392	0.0371	L	0.28458	0.855	0.52099	D	0.999942	P;P	0.40619	0.724;0.603	B;B	0.34452	0.183;0.089	T	0.07309	-1.0779	10	0.19147	T	0.46	-36.9976	10.0527	0.42225	0.1524:0.0:0.8476:0.0	.	27;27	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	L	27	ENSP00000355273:F27L;ENSP00000386942:F27L;ENSP00000387332:F27L	ENSP00000355273:F27L	F	-	3	2	ST6GAL2	106826785	1.000000	0.71417	0.997000	0.53966	0.057000	0.15508	3.665000	0.54532	1.430000	0.47334	-0.136000	0.14681	TTC	ST6GAL2	-	NULL	ENSG00000144057		0.567	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	HGNC	protein_coding	OTTHUMT00000330065.1	-	0.00	64	0	G	NM_032528		107460353	-1	tier1	-	no_errors	ENST00000361686	ensembl	human	known	74_37	missense	34.48	38	20	SNP	1.000	T
STK35	140901	genome.wustl.edu	37	20	2097325	2097325	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr20:2097325G>T	ENST00000381482.3	+	3	1177	c.906G>T	c.(904-906)ctG>ctT	p.L302L	STK35_ENST00000246032.3_Silent_p.L169L|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	302	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			YLRLVETSLKGERILGYAEE -> GNGEGRRPQRYTKPGAE KAK (in Ref. 4; AAI11574). {ECO:0000305}.		cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						AAAGGATCCTGGGTTATGCTG	0.478																																																	0													173.0	165.0	168.0					20																	2097325		2203	4300	6503	SO:0001819	synonymous_variant	0			AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"""CLP-36 interacting kinase"""	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.906G>T	20.37:g.2097325G>T			B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	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.L302	ENST00000381482.3	37	c.906	CCDS13024.2	20																																																																																			STK35	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000125834		0.478	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK35	HGNC	protein_coding	OTTHUMT00000077574.3	-	0.00	35	0	G	NM_080836		2097325	+1	tier1	-	no_errors	ENST00000381482	ensembl	human	known	74_37	silent	12.12	29	4	SNP	1.000	T
STK40	83931	genome.wustl.edu	37	1	36814305	36814305	+	Silent	SNP	G	G	A	rs573090820		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:36814305G>A	ENST00000373129.3	-	8	1141	c.735C>T	c.(733-735)ctC>ctT	p.L245L	STK40_ENST00000359297.2_Silent_p.L245L|STK40_ENST00000373132.3_Silent_p.L245L|STK40_ENST00000373130.3_Silent_p.L250L	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	245	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				ACGTACCGCTGAGCACGTCGG	0.587																																																	0													99.0	75.0	83.0					1																	36814305		2203	4300	6503	SO:0001819	synonymous_variant	0			BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.735C>T	1.37:g.36814305G>A			D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	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.L250	ENST00000373129.3	37	c.750	CCDS407.1	1																																																																																			STK40	-	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	ENSG00000196182		0.587	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STK40	HGNC	protein_coding	OTTHUMT00000022592.1	-	0.00	39	0	G	NM_032017		36814305	-1	tier1	-	no_errors	ENST00000373130	ensembl	human	known	74_37	silent	62.50	12	20	SNP	1.000	A
STX1A	6804	genome.wustl.edu	37	7	73114766	73114766	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:73114766C>T	ENST00000222812.3	-	10	864	c.838G>A	c.(838-840)Gcc>Acc	p.A280T	STX1A_ENST00000395156.3_3'UTR|WBSCR22_ENST00000423166.2_Intron|STX1A_ENST00000484736.1_5'UTR	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	280					calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				ACAGTGGAGGCGATGACGATG	0.607																																																	0													101.0	84.0	90.0					7																	73114766		2203	4300	6503	SO:0001583	missense	0				CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.838G>A	7.37:g.73114766C>T	ENSP00000222812:p.Ala280Thr		O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	Missense_Mutation	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.A280T	ENST00000222812.3	37	c.838	CCDS34655.1	7	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846669	0.71603	.	.	ENSG00000106089	ENST00000428377;ENST00000222812	T	0.44083	0.93	4.38	3.49	0.39957	.	0.063724	0.64402	D	0.000007	T	0.36331	0.0963	L	0.47716	1.5	0.80722	D	1	P	0.52061	0.95	B	0.41988	0.372	T	0.23655	-1.0182	10	0.46703	T	0.11	-33.198	12.3927	0.55368	0.0:0.8291:0.1709:0.0	.	280	Q16623	STX1A_HUMAN	T	163;280	ENSP00000222812:A280T	ENSP00000222812:A280T	A	-	1	0	STX1A	72752702	1.000000	0.71417	0.859000	0.33776	0.817000	0.46193	7.167000	0.77562	1.169000	0.42739	0.462000	0.41574	GCC	STX1A	-	NULL	ENSG00000106089		0.607	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX1A	HGNC	protein_coding	OTTHUMT00000268422.1	-	0.00	27	0	C	NM_004603		73114766	-1	tier1	-	no_errors	ENST00000222812	ensembl	human	known	74_37	missense	47.83	12	11	SNP	1.000	T
STX1B	112755	genome.wustl.edu	37	16	31012923	31012923	+	Splice_Site	SNP	G	G	A	rs368619665		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:31012923G>A	ENST00000215095.5	-	2	263	c.32C>T	c.(31-33)gCg>gTg	p.A11V	STX1B_ENST00000565419.1_Splice_Site_p.A11V	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	11				ELRSAKD -> VLRTRRN (in Ref. 2; BAA07152). {ECO:0000305}.	intracellular protein transport (GO:0006886)|neurotransmitter transport (GO:0006836)|regulation of exocytosis (GO:0017157)|regulation of gene expression (GO:0010468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						ACTGTCTTTCGCCTGGGGACA	0.597																																																	0								G	VAL/ALA	1,4393	2.1+/-5.4	0,1,2196	70.0	59.0	63.0		32	4.8	1.0	16		63	0,8600		0,0,4300	no	missense-near-splice	STX1B	NM_052874.3	64	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	benign	11/289	31012923	1,12993	2197	4300	6497	SO:0001630	splice_region_variant	0			AY028792	CCDS10699.1	16p12-p11	2008-02-05	2007-06-20	2007-06-20	ENSG00000099365	ENSG00000099365			18539	protein-coding gene	gene with protein product		601485	"""syntaxin 1B1"", ""syntaxin 1B2"""	STX1B1, STX1B2			Standard	NM_052874		Approved		uc010cad.2	P61266	OTTHUMG00000132391	ENST00000215095.5:c.31-1C>T	16.37:g.31012923G>A			Q15531|Q2VPS2	Missense_Mutation	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.A11V	ENST00000215095.5	37	c.32	CCDS10699.1	16	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286160	0.59867	2.28E-4	0.0	ENSG00000099365	ENST00000215095	T	0.37584	1.19	4.84	4.84	0.62591	.	0.355751	0.23452	N	0.048021	T	0.32734	0.0839	L	0.60067	1.865	0.80722	D	1	P;P	0.52692	0.955;0.509	B;B	0.36378	0.223;0.028	T	0.25363	-1.0134	10	0.30078	T	0.28	.	16.714	0.85393	0.0:0.0:1.0:0.0	.	11;11	Q2VPS2;P61266	.;STX1B_HUMAN	V	11	ENSP00000215095:A11V	ENSP00000215095:A11V	A	-	2	0	STX1B	30920424	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.173000	0.65010	2.256000	0.74724	0.555000	0.69702	GCG	STX1B	-	NULL	ENSG00000099365		0.597	STX1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX1B	HGNC	protein_coding	OTTHUMT00000255521.2	-	0.00	38	0	G		Missense_Mutation	31012923	-1	tier1	-	no_errors	ENST00000215095	ensembl	human	known	74_37	missense	41.86	25	18	SNP	1.000	A
SUMF2	25870	genome.wustl.edu	37	7	56136227	56136227	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:56136227G>T	ENST00000413756.1	+	2	143	c.120G>T	c.(118-120)atG>atT	p.M40I	SUMF2_ENST00000395436.2_Missense_Mutation_p.M59I|SUMF2_ENST00000437307.2_Missense_Mutation_p.M40I|SUMF2_ENST00000275607.9_Intron|SUMF2_ENST00000395435.2_Missense_Mutation_p.M59I|SUMF2_ENST00000342190.6_Missense_Mutation_p.M59I|SUMF2_ENST00000434526.2_Missense_Mutation_p.M59I			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	40					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GATTCCTGATGGGAACAAATT	0.463																																																	0													59.0	56.0	57.0					7																	56136227		2203	4300	6503	SO:0001583	missense	0			AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.120G>T	7.37:g.56136227G>T	ENSP00000406445:p.Met40Ile		B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Missense_Mutation	SNP	pfam_FGE_dom,superfamily_C-type_lectin_fold	p.M59I	ENST00000413756.1	37	c.177		7	.	.	.	.	.	.	.	.	.	.	G	17.13	3.311001	0.60414	.	.	ENSG00000129103	ENST00000395436;ENST00000434526;ENST00000395435;ENST00000413952;ENST00000342190;ENST00000437307;ENST00000413756;ENST00000451338	T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	4.84	3.94	0.45596	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.000000	0.85682	D	0.000000	T	0.55909	0.1950	L	0.51914	1.62	0.80722	D	1	D;P;B;P;D;P	0.58620	0.961;0.66;0.14;0.778;0.983;0.846	P;P;B;P;P;P	0.59221	0.854;0.575;0.178;0.517;0.853;0.791	T	0.53760	-0.8393	10	0.39692	T	0.17	-14.4331	12.8838	0.58032	0.0865:0.0:0.9135:0.0	.	40;59;59;40;59;59	Q8NBJ7-5;A8MXB9;E7EMF9;Q8NBJ7;F8WA42;C9JL30	.;.;.;SUMF2_HUMAN;.;.	I	59;59;59;59;59;40;40;37	ENSP00000378824:M59I;ENSP00000400922:M59I;ENSP00000378823:M59I;ENSP00000414434:M59I;ENSP00000341938:M59I;ENSP00000415989:M40I;ENSP00000406445:M40I;ENSP00000410796:M37I	ENSP00000341938:M59I	M	+	3	0	SUMF2	56103721	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.128000	0.77217	2.406000	0.81754	0.484000	0.47621	ATG	SUMF2	-	pfam_FGE_dom,superfamily_C-type_lectin_fold	ENSG00000129103		0.463	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	SUMF2	HGNC	protein_coding	OTTHUMT00000341457.2		0.00	108	0	G	NM_015411		56136227	+1			no_errors	ENST00000342190	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T
SUV420H1	51111	genome.wustl.edu	37	11	67939074	67939074	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:67939074G>T	ENST00000304363.4	-	7	1109	c.756C>A	c.(754-756)gtC>gtA	p.V252V	SUV420H1_ENST00000402789.1_Silent_p.V252V|SUV420H1_ENST00000401547.2_Silent_p.V252V|SUV420H1_ENST00000402185.2_Silent_p.V229V|SUV420H1_ENST00000405515.1_Silent_p.V252V	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	252	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGGAGTACATGACACTGAAGT	0.433																																																	0													133.0	131.0	131.0					11																	67939074		2200	4294	6494	SO:0001819	synonymous_variant	0			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.756C>A	11.37:g.67939074G>T			B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Silent	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.V252	ENST00000304363.4	37	c.756	CCDS31623.1	11																																																																																			SUV420H1	-	pfam_SET_dom,smart_SET_dom	ENSG00000110066		0.433	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV420H1	HGNC	protein_coding	OTTHUMT00000318319.1	-	0.00	66	0	G	NM_017635		67939074	-1	tier1	-	no_errors	ENST00000304363	ensembl	human	known	74_37	silent	5.41	70	4	SNP	1.000	T
SYNE1	23345	genome.wustl.edu	37	6	152651069	152651069	+	Silent	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:152651069C>A	ENST00000367255.5	-	78	15352	c.14751G>T	c.(14749-14751)ctG>ctT	p.L4917L	SYNE1_ENST00000423061.1_Silent_p.L4846L|SYNE1_ENST00000341594.5_Silent_p.L4664L|SYNE1_ENST00000448038.1_Silent_p.L4846L|SYNE1_ENST00000265368.4_Silent_p.L4917L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4917					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L4917L(2)|p.L4846L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGATGTCCTGCAGGTTGAGGT	0.502										HNSCC(10;0.0054)																																							3	Substitution - coding silent(3)	lung(3)											196.0	187.0	190.0					6																	152651069		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14751G>T	6.37:g.152651069C>A			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L4917	ENST00000367255.5	37	c.14751	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.502	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2		0.00	21	0	C	NM_182961		152651069	-1			no_errors	ENST00000265368	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.150	A
TBC1D2B	23102	genome.wustl.edu	37	15	78295688	78295688	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:78295688G>T	ENST00000300584.3	-	11	2532	c.2533C>A	c.(2533-2535)Ctc>Atc	p.L845I	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.L845I|TBC1D2B_ENST00000492078.1_5'Flank	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	845	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						ATTTTAAAGAGGATGTCACTA	0.428																																																	0													111.0	103.0	105.0					15																	78295688		2196	4293	6489	SO:0001583	missense	0			AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2533C>A	15.37:g.78295688G>T	ENSP00000300584:p.Leu845Ile		A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.L845I	ENST00000300584.3	37	c.2533	CCDS45314.1	15	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620031	0.66787	.	.	ENSG00000167202	ENST00000409931;ENST00000300584	T;T	0.23950	1.88;1.88	5.29	5.29	0.74685	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.39279	0.1072	M	0.63428	1.95	0.58432	D	0.999998	P;D;P	0.53312	0.927;0.959;0.941	P;P;P	0.54346	0.519;0.749;0.726	T	0.19778	-1.0295	10	0.66056	D	0.02	.	11.4034	0.49883	0.0826:0.0:0.9174:0.0	.	845;297;845	Q9UPU7-2;Q9UPU7-3;Q9UPU7	.;.;TBD2B_HUMAN	I	845	ENSP00000387165:L845I;ENSP00000300584:L845I	ENSP00000300584:L845I	L	-	1	0	TBC1D2B	76082743	1.000000	0.71417	0.991000	0.47740	0.654000	0.38779	6.588000	0.74076	2.457000	0.83068	0.563000	0.77884	CTC	TBC1D2B	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000167202		0.428	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D2B	HGNC	protein_coding	OTTHUMT00000328369.3		0.00	63	0	G	NM_015079		78295688	-1			no_errors	ENST00000300584	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T
TBC1D4	9882	genome.wustl.edu	37	13	75880522	75880522	+	Missense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr13:75880522C>A	ENST00000377636.3	-	15	3025	c.2679G>T	c.(2677-2679)tgG>tgT	p.W893C	TBC1D4_ENST00000431480.2_Missense_Mutation_p.W885C|TBC1D4_ENST00000425511.1_Intron|TBC1D4_ENST00000377625.2_Missense_Mutation_p.W830C	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	893					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ACTTCTTATCCCAAGTTATTA	0.333																																																	0													108.0	107.0	107.0					13																	75880522		1831	4080	5911	SO:0001583	missense	0			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2679G>T	13.37:g.75880522C>A	ENSP00000366863:p.Trp893Cys		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.W893C	ENST00000377636.3	37	c.2679	CCDS41901.1	13	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313928	0.81358	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.04603	3.59;3.59;3.59	5.91	5.91	0.95273	Rab-GAP/TBC domain (1);	0.000000	0.64402	D	0.000002	T	0.24624	0.0597	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.00044	-1.2219	10	0.87932	D	0	-14.8144	20.2963	0.98556	0.0:1.0:0.0:0.0	.	830;885;893	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	C	893;885;830	ENSP00000366863:W893C;ENSP00000395986:W885C;ENSP00000366852:W830C	ENSP00000366852:W830C	W	-	3	0	TBC1D4	74778523	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.841000	0.75374	2.813000	0.96785	0.655000	0.94253	TGG	TBC1D4	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000136111		0.333	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D4	HGNC	protein_coding	OTTHUMT00000045283.1	-	0.00	51	0	C	NM_014832		75880522	-1	tier1	-	no_errors	ENST00000377636	ensembl	human	known	74_37	missense	10.34	26	3	SNP	1.000	A
TBP	6908	genome.wustl.edu	37	6	170871034	170871034	+	Silent	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:170871034G>A	ENST00000392092.2	+	3	489	c.210G>A	c.(208-210)caG>caA	p.Q70Q	TBP_ENST00000540980.1_Silent_p.Q50Q|TBP_ENST00000230354.6_Silent_p.Q70Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	70	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcaacagc	0.572																																																	0													20.0	24.0	23.0					6																	170871034		2049	3974	6023	SO:0001819	synonymous_variant	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.210G>A	6.37:g.170871034G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q70	ENST00000392092.2	37	c.210	CCDS5315.1	6																																																																																			TBP	-	NULL	ENSG00000112592		0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	-	0.00	62	0	G	NM_003194		170871034	+1	tier1	-	no_errors	ENST00000230354	ensembl	human	known	74_37	silent	13.85	56	9	SNP	0.924	A
TENM4	26011	genome.wustl.edu	37	11	78380678	78380678	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:78380678G>A	ENST00000278550.7	-	32	7174	c.6712C>T	c.(6712-6714)Cgg>Tgg	p.R2238W		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2238					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										ATGTCATACCGTAGTGGTGTG	0.557																																																	0													176.0	179.0	178.0					11																	78380678		2181	4260	6441	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.6712C>T	11.37:g.78380678G>A	ENSP00000278550:p.Arg2238Trp		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R2238W	ENST00000278550.7	37	c.6712	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282607	0.40394	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.90444	-2.67;0.77	5.14	1.99	0.26369	.	0.000000	0.85682	D	0.000000	D	0.94185	0.8134	M	0.75447	2.3	0.51012	D	0.999907	D	0.89917	1.0	D	0.79784	0.993	D	0.93515	0.6856	9	.	.	.	.	14.4603	0.67445	0.0:0.0:0.3229:0.6771	.	2238	Q6N022	TEN4_HUMAN	W	2238;702	ENSP00000278550:R2238W;ENSP00000431711:R702W	.	R	-	1	2	ODZ4	78058326	0.999000	0.42202	0.516000	0.27786	0.556000	0.35491	2.838000	0.48199	0.678000	0.31325	0.655000	0.94253	CGG	TENM4	-	NULL	ENSG00000149256		0.557	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	-	0.00	48	0	G			78380678	-1	tier1	-	no_errors	ENST00000278550	ensembl	human	known	74_37	missense	77.55	11	38	SNP	0.693	A
TGFBR2	7048	genome.wustl.edu	37	3	30729915	30729915	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:30729915G>T	ENST00000295754.5	+	6	1818	c.1436G>T	c.(1435-1437)cGg>cTg	p.R479L	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R504L	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	479	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.R479Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TCCAAGGTGCGGGAGCACCCC	0.507																																																	1	Substitution - Missense(1)	ovary(1)											123.0	116.0	119.0					3																	30729915		2203	4300	6503	SO:0001583	missense	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1436G>T	3.37:g.30729915G>T	ENSP00000295754:p.Arg479Leu		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.R504L	ENST00000295754.5	37	c.1511	CCDS2648.1	3	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723774	0.89298	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.92858	-3.12;-3.12	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.061520	0.64402	D	0.000002	D	0.92312	0.7561	N	0.16708	0.43	0.58432	D	0.999994	D;D	0.57899	0.981;0.981	D;D	0.66497	0.944;0.944	D	0.92412	0.5938	10	0.41790	T	0.15	.	19.4941	0.95064	0.0:0.0:1.0:0.0	.	479;504	P37173;D2JYI1	TGFR2_HUMAN;.	L	479;504;309	ENSP00000295754:R479L;ENSP00000351905:R504L	ENSP00000295754:R479L	R	+	2	0	TGFBR2	30704919	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.728000	0.74769	2.682000	0.91365	0.591000	0.81541	CGG	TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000163513		0.507	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2		0.00	30	0	G			30729915	+1			no_errors	ENST00000359013	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	T
THRA	7067	genome.wustl.edu	37	17	38245685	38245685	+	Intron	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:38245685G>T	ENST00000264637.4	+	9	1690				THRA_ENST00000394121.4_Intron|THRA_ENST00000584985.1_Intron|THRA_ENST00000546243.1_Missense_Mutation_p.E403D|THRA_ENST00000450525.2_Missense_Mutation_p.E403D	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha						cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TCTTCCTCGAGGTCTTTGAGG	0.637																																																	0													57.0	56.0	56.0					17																	38245685		2203	4300	6503	SO:0001627	intron_variant	0			J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.1110+99G>T	17.37:g.38245685G>T			A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.E403D	ENST00000264637.4	37	c.1209	CCDS11360.1	17	.	.	.	.	.	.	.	.	.	.	g	17.03	3.284907	0.59867	.	.	ENSG00000126351	ENST00000450525;ENST00000546243	D;D	0.96168	-3.93;-3.93	4.65	4.65	0.58169	.	.	.	.	.	D	0.95890	0.8662	M	0.76170	2.325	0.35384	D	0.790202	P	0.36495	0.556	P	0.44623	0.455	D	0.98676	1.0690	8	.	.	.	.	16.4888	0.84193	0.0:0.0:1.0:0.0	.	403	Q6FH41	.	D	403	ENSP00000395641:E403D;ENSP00000443972:E403D	.	E	+	3	2	THRA	35499211	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.683000	0.37638	2.405000	0.81733	0.424000	0.28305	GAG	THRA	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt	ENSG00000126351		0.637	THRA-001	KNOWN	basic|CCDS	protein_coding	THRA	HGNC	protein_coding	OTTHUMT00000257160.2		0.00	47	0	G			38245685	+1			no_errors	ENST00000450525	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T
THSD4	79875	genome.wustl.edu	37	15	72039269	72039269	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:72039269G>T	ENST00000355327.3	+	13	2263	c.2129G>T	c.(2128-2130)cGc>cTc	p.R710L	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.R350L|THSD4_ENST00000261862.6_Missense_Mutation_p.R710L			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	710	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)	p.R710L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TACGCCAACCGCAGCCTGACG	0.637																																																	1	Substitution - Missense(1)	endometrium(1)											36.0	45.0	42.0					15																	72039269		2173	4279	6452	SO:0001583	missense	0			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2129G>T	15.37:g.72039269G>T	ENSP00000347484:p.Arg710Leu		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.R710L	ENST00000355327.3	37	c.2129	CCDS10238.2	15	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918890	0.73098	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.62639	0.01;0.01;0.29	5.08	5.08	0.68730	.	.	.	.	.	T	0.52613	0.1745	N	0.26092	0.79	0.50313	D	0.999869	B;P	0.45715	0.214;0.865	B;B	0.43783	0.093;0.431	T	0.50110	-0.8866	9	0.25106	T	0.35	.	15.9463	0.79796	0.0:0.0:1.0:0.0	.	350;710	B4DR13;Q6ZMP0	.;THSD4_HUMAN	L	710;710;350	ENSP00000347484:R710L;ENSP00000261862:R710L;ENSP00000350413:R350L	ENSP00000261862:R710L	R	+	2	0	THSD4	69826323	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.564000	0.60830	2.347000	0.79759	0.650000	0.86243	CGC	THSD4	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000187720		0.637	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THSD4	HGNC	protein_coding	OTTHUMT00000257253.2	-	0.00	33	0	G	NM_024817		72039269	+1	tier1	-	no_errors	ENST00000261862	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T
TLE2	7089	genome.wustl.edu	37	19	3000648	3000648	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:3000648G>T	ENST00000262953.6	-	19	2383	c.2121C>A	c.(2119-2121)ttC>ttA	p.F707L	TLE2_ENST00000591529.1_Intron|TLE2_ENST00000455444.2_Missense_Mutation_p.F585L|TLE2_ENST00000426948.2_Intron|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000443826.3_Missense_Mutation_p.F585L|TLE2_ENST00000590536.1_Missense_Mutation_p.F708L|TLE2_ENST00000447365.2_Missense_Mutation_p.F374L	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	707					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGTACCTGGAAAATGCTGG	0.642																																																	0													19.0	21.0	20.0					19																	3000648		1958	4137	6095	SO:0001583	missense	0			M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.2121C>A	19.37:g.3000648G>T	ENSP00000262953:p.Phe707Leu		B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F707L	ENST00000262953.6	37	c.2121	CCDS45911.1	19	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821650	0.50633	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000360654;ENST00000447365;ENST00000443826	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	3.96	1.7	0.24286	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.113706	0.64402	D	0.000012	T	0.16171	0.0389	L	0.28014	0.82	0.80722	D	1	D;D;D;D	0.64830	0.992;0.994;0.992;0.992	D;P;D;D	0.69654	0.948;0.676;0.965;0.965	T	0.01464	-1.1348	10	0.51188	T	0.08	-11.4584	8.7985	0.34894	0.1816:0.0:0.8183:0.0	.	585;374;585;707	E9PEV7;B4DE62;B4DE03;Q04725	.;.;.;TLE2_HUMAN	L	707;585;256;374;585	ENSP00000262953:F707L;ENSP00000413107:F585L;ENSP00000406523:F374L;ENSP00000392427:F585L	ENSP00000262953:F707L	F	-	3	2	TLE2	2951648	1.000000	0.71417	0.996000	0.52242	0.600000	0.36913	5.400000	0.66320	0.434000	0.26340	0.444000	0.29173	TTC	TLE2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat_dom	ENSG00000065717		0.642	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TLE2	HGNC	protein_coding	OTTHUMT00000452194.2	-	0.00	58	0	G	NM_003260		3000648	-1	tier1	-	no_errors	ENST00000262953	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T
TMEM128	85013	genome.wustl.edu	37	4	4242077	4242077	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr4:4242077G>T	ENST00000382753.4	-	3	378	c.369C>A	c.(367-369)acC>acA	p.T123T	TMEM128_ENST00000254742.2_Silent_p.T99T|TMEM128_ENST00000540397.1_Silent_p.T123T|TMEM128_ENST00000538516.1_Silent_p.T123T			Q5BJH2	TM128_HUMAN	transmembrane protein 128	123						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		AGGAGGCAGTGGTAATGGGTA	0.348																																																	0													120.0	99.0	106.0					4																	4242077		2203	4300	6503	SO:0001819	synonymous_variant	0			BC007729	CCDS3373.1, CCDS75099.1	4p16.3	2008-02-05			ENSG00000132406	ENSG00000132406			28201	protein-coding gene	gene with protein product							Standard	XM_005248034		Approved	MGC13159	uc003ghq.1	Q5BJH2	OTTHUMG00000125475	ENST00000382753.4:c.369C>A	4.37:g.4242077G>T			B4DHS7|D3DVS3|Q5H9U6|Q96I94	Silent	SNP	NULL	p.T123	ENST00000382753.4	37	c.369		4																																																																																			TMEM128	-	NULL	ENSG00000132406		0.348	TMEM128-002	KNOWN	basic|appris_principal	protein_coding	TMEM128	HGNC	protein_coding	OTTHUMT00000246798.2	-	0.00	54	0	G	NM_032927		4242077	-1	tier1	-	no_errors	ENST00000382753	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.959	T
TMEM186	25880	genome.wustl.edu	37	16	8890320	8890320	+	Nonsense_Mutation	SNP	G	G	T	rs368713879		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:8890320G>T	ENST00000333050.6	-	2	164	c.131C>A	c.(130-132)tCg>tAg	p.S44*	PMM2_ENST00000539622.1_5'Flank|PMM2_ENST00000566983.1_Intron|PMM2_ENST00000268261.4_5'Flank|PMM2_ENST00000569958.1_5'Flank|PMM2_ENST00000537352.1_5'Flank|TMEM186_ENST00000564869.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	44						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						TTTCTCCTTCGAGATGGGTGA	0.527																																																	0													121.0	126.0	124.0					16																	8890320		2197	4300	6497	SO:0001587	stop_gained	0			BC015912	CCDS10535.1	16p13.2	2008-02-05	2007-02-08	2007-02-08	ENSG00000184857	ENSG00000184857			24530	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 51"""	C16orf51		11230166	Standard	NM_015421		Approved	DKFZP564K2062	uc002cze.3	Q96B77	OTTHUMG00000129696	ENST00000333050.6:c.131C>A	16.37:g.8890320G>T	ENSP00000331640:p.Ser44*		B2RAY0|Q9Y4T4	Nonsense_Mutation	SNP	NULL	p.S44*	ENST00000333050.6	37	c.131	CCDS10535.1	16	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437777	0.62955	.	.	ENSG00000184857	ENST00000333050	.	.	.	5.31	3.31	0.37934	.	0.908687	0.09090	N	0.849946	.	.	.	.	.	.	0.19300	N	0.99998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.5777	8.6057	0.33771	0.1862:0.0:0.8138:0.0	.	.	.	.	X	44	.	ENSP00000331640:S44X	S	-	2	0	TMEM186	8797821	0.001000	0.12720	0.002000	0.10522	0.088000	0.18126	0.699000	0.25586	0.700000	0.31782	0.655000	0.94253	TCG	TMEM186	-	NULL	ENSG00000184857		0.527	TMEM186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM186	HGNC	protein_coding	OTTHUMT00000251903.1	-	0.00	35	0	G	NM_015421		8890320	-1	tier1	-	no_errors	ENST00000333050	ensembl	human	known	74_37	nonsense	6.90	54	4	SNP	0.003	T
TMEM260	54916	genome.wustl.edu	37	14	57083906	57083906	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr14:57083906G>T	ENST00000261556.6	+	9	1069	c.947G>T	c.(946-948)aGa>aTa	p.R316I	TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000553335.1_3'UTR|TMEM260_ENST00000538838.1_Missense_Mutation_p.R316I	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	316						integral component of membrane (GO:0016021)											TGTAGGGACAGACAGAATCCA	0.264																																																	0													115.0	108.0	111.0					14																	57083906		2203	4297	6500	SO:0001583	missense	0			AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.947G>T	14.37:g.57083906G>T	ENSP00000261556:p.Arg316Ile		A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	pfam_DUF2723	p.R316I	ENST00000261556.6	37	c.947	CCDS9727.2	14	.	.	.	.	.	.	.	.	.	.	G	6.990	0.552849	0.13374	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	T;T	0.54279	1.18;0.58	5.64	2.26	0.28386	.	0.319446	0.38548	N	0.001651	T	0.41994	0.1183	L	0.59436	1.845	0.43462	D	0.995662	P	0.34780	0.468	B	0.27500	0.08	T	0.30880	-0.9963	10	0.40728	T	0.16	-4.5045	8.9707	0.35905	0.4179:0.0:0.5821:0.0	.	316	Q9NX78	CN101_HUMAN	I	316	ENSP00000261556:R316I;ENSP00000441934:R316I	ENSP00000261556:R316I	R	+	2	0	C14orf101	56153659	0.002000	0.14202	0.953000	0.39169	0.073000	0.16967	0.084000	0.14891	0.685000	0.31468	0.563000	0.77884	AGA	TMEM260	-	NULL	ENSG00000070269		0.264	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM260	HGNC	protein_coding	OTTHUMT00000276924.1	-	0.00	67	0	G	NM_017799		57083906	+1	tier1	-	no_errors	ENST00000261556	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.342	T
TNNC1	7134	genome.wustl.edu	37	3	52485526	52485526	+	Missense_Mutation	SNP	A	A	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:52485526A>G	ENST00000232975.3	-	5	389	c.335T>C	c.(334-336)aTc>aCc	p.I112T		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	112	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of muscle contraction (GO:0006937)|regulation of muscle filament sliding speed (GO:0032972)|response to metal ion (GO:0010038)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|troponin complex (GO:0005861)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)|troponin I binding (GO:0031013)|troponin T binding (GO:0031014)			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Felodipine(DB01023)|Levosimendan(DB00922)|Trifluoperazine(DB00831)	ATCCAGGTCGATGTAGCCATC	0.602																																																	0													111.0	96.0	101.0					3																	52485526		2203	4300	6503	SO:0001583	missense	0				CCDS2857.1	3p21.1	2014-09-17	2005-09-12		ENSG00000114854	ENSG00000114854		"""EF-hand domain containing"""	11943	protein-coding gene	gene with protein product		191040	"""troponin C, slow"""	TNNC			Standard	NM_003280		Approved		uc003deb.3	P63316	OTTHUMG00000158572	ENST00000232975.3:c.335T>C	3.37:g.52485526A>G	ENSP00000232975:p.Ile112Thr		O14800|P02590|P04463	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,prints_Recoverin,pfscan_EF_hand_dom	p.I112T	ENST00000232975.3	37	c.335	CCDS2857.1	3	.	.	.	.	.	.	.	.	.	.	A	20.8	4.045367	0.75846	.	.	ENSG00000114854	ENST00000232975;ENST00000496590	T;T	0.78126	-1.15;-1.15	5.58	5.58	0.84498	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92688	0.7676	H	0.99197	4.465	0.80722	D	1	D	0.56746	0.977	D	0.87578	0.998	D	0.94452	0.7668	10	0.87932	D	0	.	10.9112	0.47110	0.8599:0.0:0.0:0.1401	.	112	P63316	TNNC1_HUMAN	T	112;68	ENSP00000232975:I112T;ENSP00000420596:I68T	ENSP00000232975:I112T	I	-	2	0	TNNC1	52460566	1.000000	0.71417	0.949000	0.38748	0.731000	0.41821	9.339000	0.96797	2.129000	0.65627	0.459000	0.35465	ATC	TNNC1	-	pfam_EF_hand_dom,smart_EF_hand_dom,prints_Recoverin,pfscan_EF_hand_dom	ENSG00000114854		0.602	TNNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNC1	HGNC	protein_coding	OTTHUMT00000351371.1	-	0.00	15	0	A			52485526	-1	tier1	-	no_errors	ENST00000232975	ensembl	human	known	74_37	missense	40.62	19	13	SNP	0.997	G
TNPO3	23534	genome.wustl.edu	37	7	128655122	128655122	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:128655122G>T	ENST00000265388.5	-	4	606	c.463C>A	c.(463-465)Cat>Aat	p.H155N	TNPO3_ENST00000482320.1_Missense_Mutation_p.H89N|TNPO3_ENST00000393245.1_Missense_Mutation_p.H155N|TNPO3_ENST00000471234.1_Missense_Mutation_p.H155N|TNPO3_ENST00000471166.1_Missense_Mutation_p.H155N			Q9Y5L0	TNPO3_HUMAN	transportin 3	155					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GAACGACTATGTACTTCTTCA	0.373																																					Pancreas(147;583 2585 39696 52331)												0													107.0	97.0	101.0					7																	128655122		2203	4300	6503	SO:0001583	missense	0			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.463C>A	7.37:g.128655122G>T	ENSP00000265388:p.His155Asn		A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	p.H155N	ENST00000265388.5	37	c.463	CCDS5809.1	7	.	.	.	.	.	.	.	.	.	.	G	7.922	0.738885	0.15642	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.62	4.75	0.60458	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.21921	0.0528	N	0.08118	0	0.49687	D	0.999814	B;B;B	0.18863	0.008;0.031;0.005	B;B;B	0.13407	0.009;0.009;0.002	T	0.06481	-1.0824	10	0.13853	T	0.58	.	12.184	0.54227	0.083:0.0:0.917:0.0	.	155;155;155	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	N	155;155;89;155;155	ENSP00000376936:H155N;ENSP00000265388:H155N;ENSP00000420089:H89N;ENSP00000418646:H155N;ENSP00000418267:H155N	ENSP00000265388:H155N	H	-	1	0	TNPO3	128442358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.862000	0.87013	1.370000	0.46153	0.591000	0.81541	CAT	TNPO3	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	ENSG00000064419		0.373	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	HGNC	protein_coding	OTTHUMT00000350929.1	-	0.00	58	0	G	NM_012470		128655122	-1	tier1	-	no_errors	ENST00000393245	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T
TOM1L2	146691	genome.wustl.edu	37	17	17810778	17810778	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:17810778G>T	ENST00000379504.3	-	2	203	c.120C>A	c.(118-120)atC>atA	p.I40I	TOM1L2_ENST00000540946.1_Silent_p.I40I|TOM1L2_ENST00000581396.1_Silent_p.I40I|TOM1L2_ENST00000542206.1_Silent_p.I40I|TOM1L2_ENST00000318094.10_Silent_p.I40I|TOM1L2_ENST00000395739.4_Silent_p.I40I|TOM1L2_ENST00000535933.1_Silent_p.I40I	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	40	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CCGTCTCATTGATGATGTCAC	0.502																																					Melanoma(192;2505 2909 14455 25269)												0													125.0	101.0	109.0					17																	17810778		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"""target of myb1 (chicken) homolog-like 1"""			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.120C>A	17.37:g.17810778G>T			B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Silent	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.I40	ENST00000379504.3	37	c.120	CCDS42270.1	17																																																																																			TOM1L2	-	pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_VHS	ENSG00000175662		0.502	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOM1L2	HGNC	protein_coding	OTTHUMT00000131928.1	-	0.00	45	0	G			17810778	-1	tier1	-	no_errors	ENST00000379504	ensembl	human	known	74_37	silent	6.78	55	4	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7578502	7578502	+	Missense_Mutation	SNP	A	A	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:7578502A>G	ENST00000269305.4	-	5	617	c.428T>C	c.(427-429)gTg>gCg	p.V143A	TP53_ENST00000413465.2_Missense_Mutation_p.V143A|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.V143A|TP53_ENST00000455263.2_Missense_Mutation_p.V143A|TP53_ENST00000420246.2_Missense_Mutation_p.V143A|TP53_ENST00000445888.2_Missense_Mutation_p.V143A	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	143	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius; severely represses interaction with ZNF385A).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (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.V143A(18)|p.0?(8)|p.V143E(5)|p.V11A(2)|p.V50A(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCACAGCTGCACAGGGCAGGT	0.587		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"""	42	Substitution - Missense(28)|Whole gene deletion(8)|Deletion - In frame(4)|Deletion - Frameshift(2)	large_intestine(10)|stomach(7)|breast(6)|bone(4)|lung(3)|ovary(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|oesophagus(2)|vulva(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)											57.0	56.0	56.0					17																	7578502		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.428T>C	17.37:g.7578502A>G	ENSP00000269305:p.Val143Ala		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.V143A	ENST00000269305.4	37	c.428	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	13.84	2.356636	0.41801	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99830	-7.01;-7.01;-7.01;-7.01;-7.01;-7.01;-7.01;-7.01;-7.01	5.48	1.94	0.25998	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.343688	0.28219	N	0.016151	D	0.99697	0.9885	M	0.87381	2.88	0.43191	D	0.995023	D;D;D;D;D;D;D	0.89917	0.999;0.996;0.996;0.998;0.996;0.999;1.0	D;D;D;D;D;D;D	0.87578	0.989;0.993;0.977;0.987;0.998;0.998;0.99	D	0.99035	1.0822	10	0.87932	D	0	-32.0412	3.2523	0.06819	0.6411:0.1439:0.0771:0.1378	.	104;143;143;50;143;143;143	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	A	143;143;143;143;143;143;132;50;11;50;11;143	ENSP00000410739:V143A;ENSP00000352610:V143A;ENSP00000269305:V143A;ENSP00000398846:V143A;ENSP00000391127:V143A;ENSP00000391478:V143A;ENSP00000425104:V11A;ENSP00000423862:V50A;ENSP00000424104:V143A	ENSP00000269305:V143A	V	-	2	0	TP53	7519227	1.000000	0.71417	0.664000	0.29753	0.012000	0.07955	9.264000	0.95635	0.097000	0.17492	-0.336000	0.08194	GTG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	43	0	A	NM_000546		7578502	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	50.00	11	11	SNP	0.902	G
TOP2A	7153	genome.wustl.edu	37	17	38562675	38562675	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:38562675G>T	ENST00000423485.1	-	16	2072	c.1914C>A	c.(1912-1914)ttC>ttA	p.F638L		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	638					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CAGAATATTTGAACTGGATAC	0.358																																																	0													115.0	105.0	108.0					17																	38562675		1847	4088	5935	SO:0001583	missense	0				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1914C>A	17.37:g.38562675G>T	ENSP00000411532:p.Phe638Leu		B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.F638L	ENST00000423485.1	37	c.1914	CCDS45672.1	17	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207513	0.79240	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.24350	1.86	5.38	3.4	0.38934	DNA topoisomerase, type IIA, central (1);DNA topoisomerase, type IIA, subunit B/N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.29158	0.0725	M	0.76002	2.32	0.80722	D	1	P	0.37997	0.614	B	0.36335	0.222	T	0.10200	-1.0640	10	0.59425	D	0.04	.	11.0794	0.48051	0.2067:0.0:0.7933:0.0	.	638	P11388	TOP2A_HUMAN	L	638;718;661;674	ENSP00000411532:F638L	ENSP00000269577:F718L	F	-	3	2	TOP2A	35816201	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.514000	0.35834	0.781000	0.33589	0.557000	0.71058	TTC	TOP2A	-	superfamily_Topo_IIA_like_dom,smart_Topo_IIA	ENSG00000131747		0.358	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1		0.00	52	0	G			38562675	-1			no_errors	ENST00000423485	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T
TPTE	7179	genome.wustl.edu	37	21	10944701	10944702	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr21:10944701_10944702insC	ENST00000361285.4	-	11	861_862	c.532_533insG	c.(532-534)tttfs	p.F178fs	TPTE_ENST00000342420.5_Frame_Shift_Ins_p.F140fs|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Frame_Shift_Ins_p.F160fs	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	178					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATGTCAAAAAAAATGTAAACG	0.297																																																	0																																										SO:0001589	frameshift_variant	0			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.532_533insG	21.37:g.10944701_10944702insC	ENSP00000355208:p.Phe178fs		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Frame_Shift_Ins	INS	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.F178fs	ENST00000361285.4	37	c.533_532	CCDS13560.2	21																																																																																			TPTE	-	pfam_Ion_trans_dom	ENSG00000166157		0.297	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1		0.00	211	0	-			10944702	-1	tier1		no_errors	ENST00000361285	ensembl	human	known	74_37	frame_shift_ins	29.46	91	38	INS	0.288:0.231	C
TRABD2A	129293	genome.wustl.edu	37	2	85049137	85049137	+	Silent	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:85049137G>A	ENST00000409520.2	-	7	1464	c.1422C>T	c.(1420-1422)caC>caT	p.H474H	TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000335459.5_Silent_p.H425H	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	474					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										CCATCTGGCTGTGGTGGGAAT	0.602																																																	0													33.0	37.0	36.0					2																	85049137		2060	4229	6289	SO:0001819	synonymous_variant	0			BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.1422C>T	2.37:g.85049137G>A			B4DKK8|I6UMB9	Silent	SNP	NULL	p.H474	ENST00000409520.2	37	c.1422		2																																																																																			TRABD2A	-	NULL	ENSG00000186854		0.602	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	TRABD2A	HGNC	protein_coding		-	0.00	51	0	G	NM_001080824		85049137	-1	tier1	-	no_errors	ENST00000409520	ensembl	human	known	74_37	silent	24.49	37	12	SNP	0.712	A
TRAF3IP3	80342	genome.wustl.edu	37	1	209946298	209946298	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:209946298G>T	ENST00000367024.1	+	9	1224	c.708G>T	c.(706-708)caG>caT	p.Q236H	TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.Q216H|TRAF3IP3_ENST00000477431.1_5'UTR|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.Q236H|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.Q216H|TRAF3IP3_ENST00000367023.1_5'UTR|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.Q216H			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	236						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TCCAGGGACAGCTTAATGAAG	0.433																																																	0													96.0	89.0	91.0					1																	209946298		2203	4300	6503	SO:0001583	missense	0				CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.708G>T	1.37:g.209946298G>T	ENSP00000355991:p.Gln236His		A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	NULL	p.Q236H	ENST00000367024.1	37	c.708	CCDS1490.2	1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109850	0.37242	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000458110;ENST00000367026;ENST00000367024;ENST00000010338	T;T;T;T;T	0.50277	0.78;0.76;0.75;0.76;0.75	5.36	1.43	0.22495	.	0.086522	0.50627	D	0.000117	T	0.62282	0.2415	M	0.67953	2.075	0.42680	D	0.993541	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.79108	0.992;0.988;0.983;0.976	T	0.60100	-0.7329	10	0.62326	D	0.03	-12.1808	10.582	0.45261	0.3524:0.0:0.6476:0.0	.	236;216;236;216	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	H	216;236;219;216;236;216	ENSP00000383743:Q216H;ENSP00000355992:Q236H;ENSP00000355993:Q216H;ENSP00000355991:Q236H;ENSP00000010338:Q216H	ENSP00000010338:Q216H	Q	+	3	2	TRAF3IP3	208012921	1.000000	0.71417	0.988000	0.46212	0.481000	0.33189	0.998000	0.29744	-0.185000	0.10550	-1.598000	0.00824	CAG	TRAF3IP3	-	NULL	ENSG00000009790		0.433	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAF3IP3	HGNC	protein_coding	OTTHUMT00000088734.2	-	0.00	34	0	G			209946298	+1	tier1	-	no_errors	ENST00000367024	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.996	T
TRIM27	5987	genome.wustl.edu	37	6	28879454	28879454	+	Intron	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:28879454G>T	ENST00000377199.3	-	4	1127				TRIM27_ENST00000377194.3_Intron|TRIM27_ENST00000498117.1_5'UTR	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27						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						TTTAACACTAGGGAAACAGAA	0.373			T	RET	papillary thyroid																																			Dom	yes		6	6p22	5987	tripartite motif-containing 27		E	0													69.0	70.0	70.0					6																	28879454		2203	4300	6503	SO:0001627	intron_variant	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.770+18C>A	6.37:g.28879454G>T			A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	RNA	SNP	-	NULL	ENST00000377199.3	37	NULL	CCDS4654.1	6																																																																																			TRIM27	-	-	ENSG00000204713		0.373	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM27	HGNC	protein_coding	OTTHUMT00000076442.2	-	0.00	61	0	G	NM_030950		28879454	-1	tier1	-	no_errors	ENST00000498117	ensembl	human	known	74_37	rna	5.13	73	4	SNP	0.000	T
TRIM10	10107	genome.wustl.edu	37	6	30123537	30123537	+	Splice_Site	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:30123537C>A	ENST00000449742.2	-	6	971		c.e6-1		TRIM10_ENST00000376704.3_Splice_Site	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10						erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						CATAGTTTTTCTGTAAAGAAA	0.403																																																	0													74.0	70.0	71.0					6																	30123537		2203	4300	6503	SO:0001630	splice_region_variant	0			Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.896-1G>T	6.37:g.30123537C>A			A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Splice_Site	SNP	-	e6-1	ENST00000449742.2	37	c.896-1	CCDS34375.1	6	.	.	.	.	.	.	.	.	.	.	C	10.45	1.354405	0.24512	.	.	ENSG00000204613	ENST00000449742;ENST00000376704	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5092	0.61502	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRIM10	30231516	1.000000	0.71417	1.000000	0.80357	0.241000	0.25554	3.489000	0.53237	2.626000	0.88956	0.643000	0.83706	.	TRIM10	-	-	ENSG00000204613		0.403	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM10	HGNC	protein_coding	OTTHUMT00000076634.1	-	0.00	55	0	C		Intron	30123537	-1	tier1	-	no_errors	ENST00000449742	ensembl	human	known	74_37	splice_site	5.95	79	5	SNP	1.000	A
TRIM37	4591	genome.wustl.edu	37	17	57138450	57138450	+	Missense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:57138450C>A	ENST00000262294.7	-	12	1221	c.962G>T	c.(961-963)cGa>cTa	p.R321L	TRIM37_ENST00000376149.3_Missense_Mutation_p.R199L|RN7SL716P_ENST00000580539.1_RNA|TRIM37_ENST00000393066.3_Missense_Mutation_p.R321L|TRIM37_ENST00000393065.2_Missense_Mutation_p.R287L	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	321	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GTAGTAACCTCGCACAACTCC	0.328									Mulibrey Nanism																																								0													91.0	85.0	87.0					17																	57138450		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.962G>T	17.37:g.57138450C>A	ENSP00000262294:p.Arg321Leu		Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING	p.R321L	ENST00000262294.7	37	c.962	CCDS32694.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.545704	0.96488	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.7	5.7	0.88788	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.79118	0.4392	M	0.65975	2.015	0.80722	D	1	P;D;P	0.71674	0.93;0.998;0.766	P;D;P	0.80764	0.679;0.994;0.582	T	0.79366	-0.1833	10	0.62326	D	0.03	-28.9608	19.8478	0.96722	0.0:1.0:0.0:0.0	.	287;199;321	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	L	321;321;199;287	ENSP00000376785:R321L;ENSP00000262294:R321L;ENSP00000365319:R199L;ENSP00000376784:R287L	ENSP00000262294:R321L	R	-	2	0	TRIM37	54493232	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.503000	0.81632	2.698000	0.92095	0.655000	0.94253	CGA	TRIM37	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH	ENSG00000108395		0.328	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM37	HGNC	protein_coding	OTTHUMT00000445930.1	-	0.00	75	0	C	NM_015294		57138450	-1	tier1	-	no_errors	ENST00000262294	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	A
TRIM49	57093	genome.wustl.edu	37	11	89537238	89537238	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:89537238C>T	ENST00000329758.1	-	3	728	c.400G>A	c.(400-402)Gag>Aag	p.E134K	TRIM49_ENST00000532501.2_Missense_Mutation_p.E134K	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	134						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CGGTGTTCCTCAGCAGCCCAC	0.488																																																	0													22.0	21.0	21.0					11																	89537238		1983	3973	5956	SO:0001583	missense	0			AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13431	protein-coding gene	gene with protein product		606124	"""ring finger protein 18"", ""tripartite motif-containing 49"""	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.400G>A	11.37:g.89537238C>T	ENSP00000327604:p.Glu134Lys		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.E134K	ENST00000329758.1	37	c.400	CCDS8287.1	11	.	.	.	.	.	.	.	.	.	.	C	8.568	0.879318	0.17467	.	.	ENSG00000168930	ENST00000329758;ENST00000532501	T	0.57436	0.4	0.821	-0.247	0.13019	.	.	.	.	.	T	0.60676	0.2287	M	0.90922	3.16	0.09310	N	1	P	0.37101	0.582	B	0.43889	0.435	T	0.57429	-0.7813	8	.	.	.	.	3.2817	0.06917	0.0:0.6705:0.0:0.3295	.	134	P0CI25	TRI49_HUMAN	K	134	ENSP00000327604:E134K	.	E	-	1	0	TRIM49	89176886	0.089000	0.21612	0.006000	0.13384	0.199000	0.23934	-0.025000	0.12413	-0.076000	0.12775	0.194000	0.17425	GAG	TRIM49	-	NULL	ENSG00000168930		0.488	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM49	HGNC	protein_coding	OTTHUMT00000395435.1	-	0.00	87	0	C	NM_020358		89537238	-1	tier1	-	no_errors	ENST00000329758	ensembl	human	known	74_37	missense	34.91	69	37	SNP	0.012	T
TRIOBP	11078	genome.wustl.edu	37	22	38121396	38121396	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr22:38121396G>T	ENST00000406386.3	+	7	3088	c.2833G>T	c.(2833-2835)Gac>Tac	p.D945Y		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	945					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AACCCAAGGTGACAGGCCTCA	0.642																																																	0													110.0	130.0	124.0					22																	38121396		2099	4222	6321	SO:0001583	missense	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2833G>T	22.37:g.38121396G>T	ENSP00000384312:p.Asp945Tyr		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D945Y	ENST00000406386.3	37	c.2833	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705591	0.68615	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.49139	0.79	4.74	4.74	0.60224	.	.	.	.	.	T	0.63674	0.2531	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.66019	-0.6027	9	0.72032	D	0.01	.	13.4663	0.61256	0.0:0.0:1.0:0.0	.	945	Q9H2D6	TARA_HUMAN	Y	945	ENSP00000384312:D945Y	ENSP00000384312:D945Y	D	+	1	0	TRIOBP	36451342	0.981000	0.34729	1.000000	0.80357	0.990000	0.78478	1.812000	0.38952	2.635000	0.89317	0.558000	0.71614	GAC	TRIOBP	-	NULL	ENSG00000100106		0.642	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	-	0.00	29	0	G			38121396	+1	tier1	-	no_errors	ENST00000406386	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.998	T
TRIOBP	11078	genome.wustl.edu	37	22	38130773	38130773	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr22:38130773G>T	ENST00000406386.3	+	9	4685	c.4430G>T	c.(4429-4431)tGg>tTg	p.W1477L		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1477					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAGGGAGCATGGGGGGGCACT	0.667																																																	0													10.0	12.0	11.0					22																	38130773		1748	3906	5654	SO:0001583	missense	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4430G>T	22.37:g.38130773G>T	ENSP00000384312:p.Trp1477Leu		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.W1477L	ENST00000406386.3	37	c.4430	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771916	0.31320	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.51325	0.71	5.37	-0.446	0.12238	.	.	.	.	.	T	0.27063	0.0663	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.18304	-1.0341	9	0.44086	T	0.13	.	1.8474	0.03162	0.2371:0.1365:0.4857:0.1407	.	1477	Q9H2D6	TARA_HUMAN	L	1477;1438	ENSP00000384312:W1477L	ENSP00000384312:W1477L	W	+	2	0	TRIOBP	36460719	0.095000	0.21747	0.001000	0.08648	0.002000	0.02628	1.231000	0.32624	-0.232000	0.09811	-0.379000	0.06801	TGG	TRIOBP	-	NULL	ENSG00000100106		0.667	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2		0.00	75	0	G			38130773	+1			no_errors	ENST00000406386	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.003	T
TRPC4	7223	genome.wustl.edu	37	13	38237742	38237742	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr13:38237742G>T	ENST00000379705.3	-	6	2356	c.1499C>A	c.(1498-1500)tCt>tAt	p.S500Y	TRPC4_ENST00000379681.3_Missense_Mutation_p.S500Y|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000379679.1_Missense_Mutation_p.S327Y|TRPC4_ENST00000379673.2_Missense_Mutation_p.S500Y|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000338947.5_Missense_Mutation_p.S327Y|TRPC4_ENST00000447043.1_Missense_Mutation_p.S500Y|TRPC4_ENST00000355779.2_Missense_Mutation_p.S500Y|TRPC4_ENST00000358477.2_Missense_Mutation_p.S500Y			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	500					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.S500Y(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCCCAGGTGAGAATTTGCAGT	0.443																																																	2	Substitution - Missense(2)	large_intestine(2)											89.0	88.0	88.0					13																	38237742		2203	4300	6503	SO:0001583	missense	0			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1499C>A	13.37:g.38237742G>T	ENSP00000369027:p.Ser500Tyr		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.S500Y	ENST00000379705.3	37	c.1499	CCDS9365.1	13	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893710	0.91889	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	D;D;D;D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99	6.08	6.08	0.98989	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98488	0.9496	L	0.43554	1.36	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.997;1.0;0.999;1.0	D;D;D;D;D;D	0.85130	0.996;0.99;0.994;0.997;0.991;0.997	D	0.99698	1.1003	10	0.66056	D	0.02	-19.1072	20.6634	0.99662	0.0:0.0:1.0:0.0	.	500;500;500;327;500;500	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	Y	500;500;327;327;500;500;500;500	ENSP00000369027:S500Y;ENSP00000369003:S500Y;ENSP00000342580:S327Y;ENSP00000369001:S327Y;ENSP00000348025:S500Y;ENSP00000351264:S500Y;ENSP00000368995:S500Y;ENSP00000414316:S500Y	ENSP00000342580:S327Y	S	-	2	0	TRPC4	37135742	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.860000	0.99555	2.894000	0.99253	0.655000	0.94253	TCT	TRPC4	-	pfam_Ion_trans_dom,tigrfam_TRP_channel	ENSG00000133107		0.443	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	HGNC	protein_coding	OTTHUMT00000044574.2		0.00	40	0	G	NM_003306		38237742	-1			no_errors	ENST00000379681	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T
TRPM6	140803	genome.wustl.edu	37	9	77377027	77377027	+	Missense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:77377027C>A	ENST00000360774.1	-	26	4797	c.4560G>T	c.(4558-4560)caG>caT	p.Q1520H	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.Q1515H|TRPM6_ENST00000449912.2_Missense_Mutation_p.Q1515H|TRPM6_ENST00000451710.3_Missense_Mutation_p.Q1520H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q1520H	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1520					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATGTGTTTGGCTGAAGCCATG	0.488																																																	0													120.0	111.0	114.0					9																	77377027		2203	4300	6503	SO:0001583	missense	0			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4560G>T	9.37:g.77377027C>A	ENSP00000354006:p.Gln1520His		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.Q1520H	ENST00000360774.1	37	c.4560	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	C	6.607	0.480415	0.12581	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864	T;T;T;T;T	0.54675	0.65;0.65;0.65;0.65;0.56	5.33	3.38	0.38709	.	1.111390	0.06742	N	0.778598	T	0.44074	0.1276	L	0.48362	1.52	0.09310	N	0.999995	B;B;B	0.14438	0.006;0.004;0.01	B;B;B	0.16289	0.007;0.006;0.015	T	0.44034	-0.9354	10	0.87932	D	0	.	1.9492	0.03363	0.1636:0.5042:0.1582:0.174	.	1520;1515;1515	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	H	1520;1520;1515;1515;1520	ENSP00000354006:Q1520H;ENSP00000407341:Q1520H;ENSP00000396672:Q1515H;ENSP00000354962:Q1515H;ENSP00000366060:Q1520H	ENSP00000354006:Q1520H	Q	-	3	2	TRPM6	76566847	0.821000	0.29204	0.283000	0.24790	0.462000	0.32619	0.217000	0.17603	1.249000	0.43950	0.655000	0.94253	CAG	TRPM6	-	NULL	ENSG00000119121		0.488	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	-	0.00	37	0	C	NM_017662		77377027	-1	tier1	-	no_errors	ENST00000451710	ensembl	human	known	74_37	missense	9.76	74	8	SNP	0.306	A
TRPV1	7442	genome.wustl.edu	37	17	3494370	3494370	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:3494370G>T	ENST00000571088.1	-	4	705	c.492C>A	c.(490-492)ctC>ctA	p.L164L	TRPV1_ENST00000425167.2_Silent_p.L164L|TRPV1_ENST00000310522.5_Silent_p.L164L|SHPK_ENST00000572705.1_Silent_p.L164L|TRPV1_ENST00000576351.1_Silent_p.L164L|TRPV1_ENST00000399756.4_Silent_p.L164L|TRPV1_ENST00000399759.3_Silent_p.L164L|TRPV1_ENST00000174621.6_Silent_p.L162L	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	164					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CGTGCAGGTTGAGCATGGCTT	0.627																																					Melanoma(38;962 1762 15789)												0													81.0	84.0	83.0					17																	3494370		2126	4229	6355	SO:0001819	synonymous_variant	0			AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.492C>A	17.37:g.3494370G>T			A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel	p.L164	ENST00000571088.1	37	c.492	CCDS45576.1	17																																																																																			TRPV1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPV1-4_channel,tigrfam_TRP_channel	ENSG00000196689		0.627	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV1	HGNC	protein_coding	OTTHUMT00000438254.1	-	0.00	24	0	G	NM_018727		3494370	-1	tier1	-	no_errors	ENST00000399756	ensembl	human	known	74_37	silent	12.90	27	4	SNP	1.000	T
TSKS	60385	genome.wustl.edu	37	19	50245277	50245277	+	Splice_Site	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:50245277G>T	ENST00000246801.3	-	9	1444	c.1362C>A	c.(1360-1362)agC>agA	p.S454R	TSKS_ENST00000358830.3_Splice_Site_p.S254R	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	454					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GCGACCCCTGGCTGGGGGAGG	0.632																																																	0													42.0	39.0	40.0					19																	50245277		2203	4300	6503	SO:0001630	splice_region_variant	0			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1362-1C>A	19.37:g.50245277G>T			Q8WXJ0	Missense_Mutation	SNP	NULL	p.S454R	ENST00000246801.3	37	c.1362	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804635	0.50315	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.30981	1.51;1.51	4.42	4.42	0.53409	.	0.091095	0.48767	D	0.000166	T	0.41858	0.1177	L	0.29908	0.895	0.36387	D	0.862292	D	0.69078	0.997	D	0.78314	0.991	T	0.51140	-0.8743	10	0.72032	D	0.01	.	12.7692	0.57410	0.0:0.0:1.0:0.0	.	454	Q9UJT2	TSKS_HUMAN	R	454;254	ENSP00000246801:S454R;ENSP00000351691:S254R	ENSP00000246801:S454R	S	-	3	2	TSKS	54937089	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	4.333000	0.59285	2.464000	0.83262	0.556000	0.70494	AGC	TSKS	-	NULL	ENSG00000126467		0.632	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	HGNC	protein_coding	OTTHUMT00000465795.1		0.00	41	0	G	NM_021733	Missense_Mutation	50245277	-1			no_errors	ENST00000246801	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179418646	179418646	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:179418646G>T	ENST00000591111.1	-	283	84493	c.84269C>A	c.(84268-84270)cCt>cAt	p.P28090H	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P29731H|TTN_ENST00000342992.6_Missense_Mutation_p.P27163H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P20858H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P20791H|TTN_ENST00000460472.2_Missense_Mutation_p.P20666H|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28090	Fibronectin type-III 104. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTACCAATAGGATCAGCAGC	0.388																																																	0													58.0	59.0	58.0					2																	179418646		1928	4140	6068	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.84269C>A	2.37:g.179418646G>T	ENSP00000465570:p.Pro28090His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P27163H	ENST00000591111.1	37	c.81488		2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981075	0.74474	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68765	-0.35;-0.1;-0.13;-0.13	5.61	5.61	0.85477	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86091	0.5850	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.88064	0.2796	9	0.87932	D	0	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	20666;20791;20858;28090	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	27163;20666;20858;20791;20663	ENSP00000343764:P27163H;ENSP00000434586:P20666H;ENSP00000340554:P20858H;ENSP00000352154:P20791H	ENSP00000340554:P20858H	P	-	2	0	TTN	179126892	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	CCT	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	44	0	G	NM_133378		179418646	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179431031	179431031	+	Missense_Mutation	SNP	C	C	A	rs397517715		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:179431031C>A	ENST00000591111.1	-	276	75129	c.74905G>T	c.(74905-74907)Gcc>Tcc	p.A24969S	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A26610S|TTN_ENST00000342992.6_Missense_Mutation_p.A24042S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A17737S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A17670S|TTN_ENST00000460472.2_Missense_Mutation_p.A17545S|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24969	Ig-like 123.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAATTCTGGCAGATCCACCA	0.433																																																	0													168.0	165.0	166.0					2																	179431031		1968	4184	6152	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74905G>T	2.37:g.179431031C>A	ENSP00000465570:p.Ala24969Ser		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A24042S	ENST00000591111.1	37	c.72124		2	.	.	.	.	.	.	.	.	.	.	C	11.89	1.772979	0.31411	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.91	5.03	0.67393	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48677	0.1513	M	0.62154	1.92	0.29795	N	0.832888	B;B;B;B	0.17852	0.024;0.024;0.024;0.024	B;B;B;B	0.26416	0.069;0.069;0.069;0.069	T	0.53401	-0.8444	9	0.87932	D	0	.	11.54	0.50661	0.0:0.8064:0.1262:0.0673	.	17545;17670;17737;24969	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	24042;17545;17737;17670;17543	ENSP00000343764:A24042S;ENSP00000434586:A17545S;ENSP00000340554:A17737S;ENSP00000352154:A17670S	ENSP00000340554:A17737S	A	-	1	0	TTN	179139277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.250000	0.51445	1.488000	0.48433	0.555000	0.69702	GCC	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	66	0	C	NM_133378		179431031	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	27.78	38	15	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179479678	179479678	+	Missense_Mutation	SNP	A	A	C			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:179479678A>C	ENST00000591111.1	-	210	43957	c.43733T>G	c.(43732-43734)cTt>cGt	p.L14578R	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L16219R|TTN_ENST00000342992.6_Missense_Mutation_p.L13651R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L7346R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000359218.5_Missense_Mutation_p.L7279R|TTN_ENST00000460472.2_Missense_Mutation_p.L7154R			Q8WZ42	TITIN_HUMAN	titin	14578	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			Gccttcctcaagacctgtcac	0.438																																																	0													102.0	93.0	96.0					2																	179479678		1929	4137	6066	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43733T>G	2.37:g.179479678A>C	ENSP00000465570:p.Leu14578Arg		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L13651R	ENST00000591111.1	37	c.40952		2	.	.	.	.	.	.	.	.	.	.	A	13.19	2.162818	0.38217	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	5.93	5.93	0.95920	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.95376	0.8499	H	0.97365	3.99	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96975	0.9711	9	0.87932	D	0	.	16.3766	0.83401	1.0:0.0:0.0:0.0	.	7154;7279;7346;14578	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	13651;7154;7346;7279;7154	ENSP00000343764:L13651R;ENSP00000434586:L7154R;ENSP00000340554:L7346R;ENSP00000352154:L7279R	ENSP00000340554:L7346R	L	-	2	0	TTN	179187923	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.991000	0.76232	2.263000	0.75096	0.533000	0.62120	CTT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	45	0	A	NM_133378		179479678	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	40.91	26	18	SNP	0.999	C
TTN	7273	genome.wustl.edu	37	2	179642228	179642228	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:179642228G>T	ENST00000591111.1	-	26	4788	c.4564C>A	c.(4564-4566)Ccc>Acc	p.P1522T	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P1522T|TTN_ENST00000342992.6_Missense_Mutation_p.P1522T|TTN-AS1_ENST00000585451.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P1476T|TTN_ENST00000360870.5_Missense_Mutation_p.P1522T|TTN_ENST00000359218.5_Missense_Mutation_p.P1476T|TTN_ENST00000460472.2_Missense_Mutation_p.P1476T			Q8WZ42	TITIN_HUMAN	titin	12386	Ig-like 6.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATCACTGGGTGTGGCAGGG	0.383																																																	0													49.0	49.0	49.0					2																	179642228		2203	4300	6503	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4564C>A	2.37:g.179642228G>T	ENSP00000465570:p.Pro1522Thr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P1522T	ENST00000591111.1	37	c.4564		2	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084518	0.55861	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	6.01	6.01	0.97437	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86744	0.6006	M	0.70275	2.135	0.47698	D	0.999495	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0	D	0.86619	0.1878	9	0.87932	D	0	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	1476;1476;1476;1522;1522	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	1522;1476;1476;1476;1476;1522	ENSP00000343764:P1522T;ENSP00000434586:P1476T;ENSP00000340554:P1476T;ENSP00000352154:P1476T;ENSP00000354117:P1522T	ENSP00000340554:P1476T	P	-	1	0	TTN	179350473	1.000000	0.71417	0.978000	0.43139	0.920000	0.55202	7.848000	0.86902	2.861000	0.98227	0.650000	0.86243	CCC	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.383	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	42	0	G	NM_133378		179642228	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T
TTLL4	9654	genome.wustl.edu	37	2	219612870	219612870	+	Missense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:219612870C>A	ENST00000392102.1	+	12	2761	c.2421C>A	c.(2419-2421)caC>caA	p.H807Q	TTLL4_ENST00000442769.1_Missense_Mutation_p.H743Q|TTLL4_ENST00000457313.1_Missense_Mutation_p.H642Q|TTLL4_ENST00000258398.4_Missense_Mutation_p.H807Q	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	807	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AGTTCATGCACCTGACCAACT	0.483																																					GBM(172;1818 2053 15407 20943 49753)												0													114.0	100.0	105.0					2																	219612870		2203	4300	6503	SO:0001583	missense	0				CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.2421C>A	2.37:g.219612870C>A	ENSP00000375951:p.His807Gln		A8K6V5|Q8WW29	Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.H807Q	ENST00000392102.1	37	c.2421	CCDS2422.1	2	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995843	0.74703	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.81	3.06	0.35304	.	0.000000	0.85682	D	0.000000	T	0.56124	0.1964	M	0.91717	3.235	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	T	0.63782	-0.6559	10	0.87932	D	0	.	10.9478	0.47310	0.0:0.7952:0.0:0.2048	.	10;642;743;807	B4DJF5;E9PH58;E7EX20;Q14679	.;.;.;TTLL4_HUMAN	Q	642;807;743;807	ENSP00000393332:H642Q;ENSP00000375951:H807Q;ENSP00000396555:H743Q;ENSP00000258398:H807Q	ENSP00000258398:H807Q	H	+	3	2	TTLL4	219321114	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.221000	0.32503	0.820000	0.34516	-0.749000	0.03505	CAC	TTLL4	-	pfam_TTL/TTLL_fam	ENSG00000135912		0.483	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL4	HGNC	protein_coding	OTTHUMT00000256726.1	-	0.00	36	0	C	NM_014640		219612870	+1	tier1	-	no_errors	ENST00000258398	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	A
TXLNA	200081	genome.wustl.edu	37	1	32647154	32647154	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:32647154G>T	ENST00000373609.1	+	2	762	c.481G>T	c.(481-483)Gag>Tag	p.E161*	TXLNA_ENST00000373610.3_Nonsense_Mutation_p.E161*			P40222	TXLNA_HUMAN	taxilin alpha	161					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AAGGCCACAGGAGAAGAAAAA	0.547																																																	0													23.0	20.0	21.0					1																	32647154		2179	4268	6447	SO:0001587	stop_gained	0			AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.481G>T	1.37:g.32647154G>T	ENSP00000362711:p.Glu161*		D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Nonsense_Mutation	SNP	pfam_Taxilin_fam	p.E161*	ENST00000373609.1	37	c.481	CCDS353.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.752016	0.98471	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	.	.	.	4.62	4.62	0.57501	.	0.060923	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-24.8965	17.5103	0.87758	0.0:0.0:1.0:0.0	.	.	.	.	X	161	.	ENSP00000362711:E161X	E	+	1	0	TXLNA	32419741	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.060000	0.76692	2.305000	0.77605	0.558000	0.71614	GAG	TXLNA	-	NULL	ENSG00000084652		0.547	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TXLNA	HGNC	protein_coding	OTTHUMT00000012844.1	-	0.00	29	0	G	NM_175852		32647154	+1	tier1	-	no_errors	ENST00000373609	ensembl	human	known	74_37	nonsense	13.64	19	3	SNP	1.000	T
TXNRD1	7296	genome.wustl.edu	37	12	104682731	104682731	+	Silent	SNP	A	A	C			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:104682731A>C	ENST00000525566.1	+	4	351	c.327A>C	c.(325-327)ggA>ggC	p.G109G	TXNRD1_ENST00000388854.3_Silent_p.G11G|TXNRD1_ENST00000526691.1_Silent_p.G11G|TXNRD1_ENST00000397736.2_5'Flank|TXNRD1_ENST00000526390.1_5'UTR|TXNRD1_ENST00000529546.1_5'UTR|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000524698.1_5'UTR|TXNRD1_ENST00000378070.4_Silent_p.G58G|TXNRD1_ENST00000542918.1_Silent_p.G9G|TXNRD1_ENST00000540716.1_5'UTR|TXNRD1_ENST00000503506.2_5'UTR|TXNRD1_ENST00000429002.2_Silent_p.G109G	NM_001093771.2	NP_001087240.1	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	109	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	CCCTGGAAGGAACGCTCTCGG	0.602																																					Ovarian(139;555 1836 9186 9946 10884)												0													106.0	111.0	110.0					12																	104682731		1904	4117	6021	SO:0001819	synonymous_variant	0				CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000525566.1:c.327A>C	12.37:g.104682731A>C			B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Silent	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase	p.G109	ENST00000525566.1	37	c.327	CCDS53820.1	12																																																																																			TXNRD1	-	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold	ENSG00000198431		0.602	TXNRD1-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	TXNRD1	HGNC	protein_coding	OTTHUMT00000389960.1	-	0.00	51	0	A	NM_003330		104682731	+1	tier1	-	no_errors	ENST00000429002	ensembl	human	known	74_37	silent	36.21	37	21	SNP	0.429	C
UBFD1	56061	genome.wustl.edu	37	16	23568714	23568714	+	5'UTR	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:23568714C>T	ENST00000395878.3	+	0	32				UBFD1_ENST00000567212.1_5'Flank|EARS2_ENST00000564501.1_5'UTR|EARS2_ENST00000563459.1_5'Flank|EARS2_ENST00000563232.1_5'Flank|UBFD1_ENST00000567264.1_5'Flank|EARS2_ENST00000449606.1_5'Flank|UBFD1_ENST00000219638.4_Missense_Mutation_p.T108I	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1								poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		CTTCCGGGGACTGCTTCCAGC	0.677																																					Melanoma(22;290 1069 22358 48158)												0													4.0	6.0	5.0					16																	23568714		1800	3770	5570	SO:0001623	5_prime_UTR_variant	0			AK124139	CCDS10613.2	16p12.1	2008-11-05			ENSG00000103353	ENSG00000103353			30565	protein-coding gene	gene with protein product	"""ubiquitin-binding protein homolog"""					10493829	Standard	XM_006721064		Approved	FLJ42145, FLJ38870, UBPH	uc002dlv.3	O14562	OTTHUMG00000128855	ENST00000395878.3:c.-350C>T	16.37:g.23568714C>T			A8MW58|D3DWF2	Missense_Mutation	SNP	pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.T108I	ENST00000395878.3	37	c.323	CCDS10613.2	16	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205767	0.39003	.	.	ENSG00000103353	ENST00000219638	.	.	.	4.98	-2.65	0.06095	.	0.986131	0.08231	N	0.977605	T	0.27278	0.0669	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41431	-0.9509	6	0.87932	D	0	.	0.9715	0.01416	0.1449:0.2922:0.284:0.2789	.	.	.	.	I	108	.	ENSP00000219638:T108I	T	+	2	0	UBFD1	23476215	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.214000	0.09292	-0.167000	0.10871	-0.259000	0.10710	ACT	UBFD1	-	NULL	ENSG00000103353		0.677	UBFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBFD1	HGNC	protein_coding	OTTHUMT00000250795.2	-	0.00	19	0	C	NM_019116		23568714	+1	tier1	-	no_errors	ENST00000219638	ensembl	human	known	74_37	missense	27.78	13	5	SNP	0.000	T
UBR1	197131	genome.wustl.edu	37	15	43330047	43330047	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:43330047G>T	ENST00000290650.4	-	17	2024	c.1946C>A	c.(1945-1947)cCt>cAt	p.P649H	UBR1_ENST00000382177.2_Missense_Mutation_p.P649H	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	649					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACAACGTAAAGGATATTCCAC	0.408																																																	0													96.0	79.0	85.0					15																	43330047		2203	4299	6502	SO:0001583	missense	0				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.1946C>A	15.37:g.43330047G>T	ENSP00000290650:p.Pro649His		O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.P649H	ENST00000290650.4	37	c.1946	CCDS10091.1	15	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620012	0.87460	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.49720	0.77;0.77	4.92	4.92	0.64577	.	0.058371	0.64402	D	0.000002	T	0.69602	0.3129	M	0.74881	2.28	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;P	0.74023	0.982;0.887	T	0.73251	-0.4042	10	0.87932	D	0	-20.7357	18.6694	0.91506	0.0:0.0:1.0:0.0	.	649;649	B4DYL2;Q8IWV7	.;UBR1_HUMAN	H	649	ENSP00000290650:P649H;ENSP00000371612:P649H	ENSP00000290650:P649H	P	-	2	0	UBR1	41117339	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.931000	0.92884	2.712000	0.92718	0.563000	0.77884	CCT	UBR1	-	NULL	ENSG00000159459		0.408	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR1	HGNC	protein_coding	OTTHUMT00000253202.1		0.00	46	0	G	NM_174916		43330047	-1			no_errors	ENST00000290650	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T
UHRF1BP1L	23074	genome.wustl.edu	37	12	100433495	100433495	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:100433495C>T	ENST00000279907.7	-	20	4366	c.4154G>A	c.(4153-4155)gGa>gAa	p.G1385E	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.G1035E	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1385										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ATCATACTTTCCACTGGTCAG	0.438																																																	0													142.0	114.0	123.0					12																	100433495		2203	4300	6503	SO:0001583	missense	0				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.4154G>A	12.37:g.100433495C>T	ENSP00000279907:p.Gly1385Glu		A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	NULL	p.G1385E	ENST00000279907.7	37	c.4154	CCDS31882.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.932|8.932	0.963577|0.963577	0.18583|0.18583	.|.	.|.	ENSG00000111647|ENSG00000111647	ENST00000548712|ENST00000279907;ENST00000545232	.|T;T	.|0.09630	.|2.98;2.96	5.08|5.08	2.28|2.28	0.28536|0.28536	.|.	.|0.726633	.|0.12843	.|N	.|0.434643	T|T	0.05044|0.05044	0.0135|0.0135	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	0.999996|0.999996	.|B	.|0.06786	.|0.001	.|B	.|0.06405	.|0.002	T|T	0.45026|0.45026	-0.9289|-0.9289	5|10	.|0.05721	.|T	.|0.95	-3.5833|-3.5833	7.1955|7.1955	0.25849|0.25849	0.0:0.729:0.0:0.271|0.0:0.729:0.0:0.271	.|.	.|1385	.|A0JNW5	.|UH1BL_HUMAN	K|E	146|1385;1035	.|ENSP00000279907:G1385E;ENSP00000444824:G1035E	.|ENSP00000279907:G1385E	E|G	-|-	1|2	0|0	UHRF1BP1L|UHRF1BP1L	98957626|98957626	0.001000|0.001000	0.12720|0.12720	0.007000|0.007000	0.13788|0.13788	0.678000|0.678000	0.39670|0.39670	0.459000|0.459000	0.21908|0.21908	0.187000|0.187000	0.20147|0.20147	0.655000|0.655000	0.94253|0.94253	GAA|GGA	UHRF1BP1L	-	NULL	ENSG00000111647		0.438	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1L	HGNC	protein_coding	OTTHUMT00000407875.1	-	0.00	34	0	C	NM_001006947		100433495	-1	tier1	-	no_errors	ENST00000279907	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.014	T
UPP2	151531	genome.wustl.edu	37	2	158991272	158991272	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:158991272G>T	ENST00000005756.4	+	7	1018	c.824G>T	c.(823-825)tGt>tTt	p.C275F	UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000605860.1_Missense_Mutation_p.C332F|UPP2-IT1_ENST00000439185.1_RNA|UPP2_ENST00000409859.4_Missense_Mutation_p.C332F	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	275					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	GCTGTGGTCTGTGTGACACTT	0.478																																																	0													154.0	130.0	138.0					2																	158991272		2203	4300	6503	SO:0001583	missense	0			AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.824G>T	2.37:g.158991272G>T	ENSP00000005756:p.Cys275Phe		B3KV87	Missense_Mutation	SNP	pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk	p.C332F	ENST00000005756.4	37	c.995	CCDS2207.1	2	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532510	0.64972	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	D;D	0.87887	-2.31;-2.31	5.14	3.33	0.38152	Nucleoside phosphorylase domain (1);	0.000000	0.85682	D	0.000000	D	0.93177	0.7827	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.91818	0.5465	10	0.87932	D	0	.	6.4687	0.21995	0.0911:0.0:0.7303:0.1786	.	275	O95045	UPP2_HUMAN	F	332;275	ENSP00000387230:C332F;ENSP00000005756:C275F	ENSP00000005756:C275F	C	+	2	0	UPP2	158699518	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	5.217000	0.65252	0.741000	0.32674	0.650000	0.86243	TGT	UPP2	-	pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk	ENSG00000007001		0.478	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPP2	HGNC	protein_coding	OTTHUMT00000254929.2	-	0.00	70	0	G	NM_173355		158991272	+1	tier1	-	no_errors	ENST00000409859	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T
USH2A	7399	genome.wustl.edu	37	1	216251512	216251512	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:216251512G>T	ENST00000307340.3	-	27	5877	c.5491C>A	c.(5491-5493)Ctg>Atg	p.L1831M	RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.L1831M|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1831	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.L1831M(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCACCACCAGTGGCTGGTCT	0.438										HNSCC(13;0.011)																																							1	Substitution - Missense(1)	lung(1)											95.0	98.0	97.0					1																	216251512		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5491C>A	1.37:g.216251512G>T	ENSP00000305941:p.Leu1831Met		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.L1831M	ENST00000307340.3	37	c.5491	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247354	0.80024	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	D;D	0.82711	-1.64;-1.64	4.79	2.91	0.33838	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.236590	0.21525	N	0.073160	D	0.86497	0.5947	M	0.71206	2.165	0.34644	D	0.720974	D	0.58970	0.984	P	0.62184	0.899	D	0.86104	0.1558	10	0.42905	T	0.14	.	5.8271	0.18560	0.1612:0.0:0.6847:0.1541	.	1831	O75445	USH2A_HUMAN	M	1831	ENSP00000305941:L1831M;ENSP00000355910:L1831M	ENSP00000305941:L1831M	L	-	1	2	USH2A	214318135	1.000000	0.71417	0.003000	0.11579	0.841000	0.47740	3.387000	0.52501	0.454000	0.26884	0.650000	0.86243	CTG	USH2A	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G	ENSG00000042781		0.438	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1		0.00	35	0	G	NM_007123		216251512	-1			no_errors	ENST00000366943	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.663	T
USP15	9958	genome.wustl.edu	37	12	62783638	62783638	+	Nonsense_Mutation	SNP	A	A	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:62783638A>T	ENST00000280377.5	+	14	1772	c.1714A>T	c.(1714-1716)Aga>Tga	p.R572*	USP15_ENST00000353364.3_Nonsense_Mutation_p.R543*|USP15_ENST00000393654.3_Nonsense_Mutation_p.R547*	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	572	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TGTTTGCCTAAGAGAAAAATT	0.373																																					Melanoma(181;615 2041 39364 49691 50001)												0													98.0	91.0	93.0					12																	62783638		2203	4300	6503	SO:0001587	stop_gained	0			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1714A>T	12.37:g.62783638A>T	ENSP00000280377:p.Arg572*		Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Nonsense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67	p.R572*	ENST00000280377.5	37	c.1714	CCDS58251.1	12	.	.	.	.	.	.	.	.	.	.	A	36	5.625093	0.96671	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	.	.	.	5.72	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.1565	11.7917	0.52073	0.7205:0.2795:0.0:0.0	.	.	.	.	X	543;572;547	.	.	R	+	1	2	USP15	61069905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.656000	0.46716	0.974000	0.38366	0.533000	0.62120	AGA	USP15	-	pfam_Peptidase_C19/C67,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,pfscan_Peptidase_C19/C67	ENSG00000135655		0.373	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP15	HGNC	protein_coding	OTTHUMT00000407831.2	-	0.00	61	0	A	NM_006313		62783638	+1	tier1	-	no_errors	ENST00000280377	ensembl	human	known	74_37	nonsense	45.65	25	21	SNP	1.000	T
USP17L17	100287327	genome.wustl.edu	37	4	9245636	9245636	+	Missense_Mutation	SNP	A	A	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr4:9245636A>T	ENST00000511568.1	+	1	32	c.32A>T	c.(31-33)gAg>gTg	p.E11V		NM_001256857.1	NP_001243786.1	D6RBQ6	U17LH_HUMAN	ubiquitin specific peptidase 17-like family member 17	11					ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)										TTGGGAGGTGAGTGGCAGTTC	0.517																																																	0																																										SO:0001583	missense	0				CCDS59458.1	4p16.1	2012-10-09			ENSG00000249104	ENSG00000249104			44445	protein-coding gene	gene with protein product							Standard	NM_001256857		Approved		uc031sdl.1	D6RBQ6	OTTHUMG00000160158	ENST00000511568.1:c.32A>T	4.37:g.9245636A>T	ENSP00000422621:p.Glu11Val			Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67	p.E11V	ENST00000511568.1	37	c.32	CCDS59458.1	4	.	.	.	.	.	.	.	.	.	.	.	7.286	0.609993	0.14066	.	.	ENSG00000249104	ENST00000511568	T	0.13089	2.62	0.37	0.37	0.16160	.	0.930262	0.08525	U	0.932879	T	0.09862	0.0242	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.40997	-0.9533	7	0.42905	T	0.14	.	.	.	.	.	.	.	.	V	11	ENSP00000422621:E11V	ENSP00000422621:E11V	E	+	2	0	RP11-1286E23.12	8945513	0.587000	0.26791	0.008000	0.14137	0.038000	0.13279	1.864000	0.39469	0.379000	0.24794	0.113000	0.15668	GAG	USP17L17	-	NULL	ENSG00000249104		0.517	USP17L17-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP17L17	HGNC	protein_coding	OTTHUMT00000359426.1	-	0.00	166	0	A	NM_001256857		9245636	+1	tier1	-	no_errors	ENST00000511568	ensembl	human	novel	74_37	missense	10.06	295	33	SNP	0.225	T
USP29	57663	genome.wustl.edu	37	19	57641629	57641629	+	Missense_Mutation	SNP	T	T	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:57641629T>G	ENST00000254181.4	+	4	2040	c.1586T>G	c.(1585-1587)gTt>gGt	p.V529G	USP29_ENST00000598197.1_Missense_Mutation_p.V529G	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	529	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AACGAGCAAGTTTATATTCCC	0.413																																																	0													128.0	135.0	133.0					19																	57641629		2203	4300	6503	SO:0001583	missense	0				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1586T>G	19.37:g.57641629T>G	ENSP00000254181:p.Val529Gly			Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.V529G	ENST00000254181.4	37	c.1586	CCDS33124.1	19	.	.	.	.	.	.	.	.	.	.	T	11.64	1.699951	0.30142	.	.	ENSG00000131864	ENST00000254181	T	0.80909	-1.43	2.52	2.52	0.30459	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.533626	0.13474	U	0.385216	D	0.87561	0.6208	M	0.82056	2.57	0.51233	D	0.999919	D	0.64830	0.994	D	0.64410	0.925	D	0.86901	0.2054	10	0.87932	D	0	-15.7846	8.878	0.35356	0.0:0.0:0.0:1.0	.	529	Q9HBJ7	UBP29_HUMAN	G	529	ENSP00000254181:V529G	ENSP00000254181:V529G	V	+	2	0	USP29	62333441	1.000000	0.71417	0.008000	0.14137	0.196000	0.23810	4.578000	0.60929	1.372000	0.46190	0.383000	0.25322	GTT	USP29	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000131864		0.413	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP29	HGNC	protein_coding	OTTHUMT00000465075.1	-	0.00	39	0	T			57641629	+1	tier1	-	no_errors	ENST00000254181	ensembl	human	known	74_37	missense	31.58	26	12	SNP	0.992	G
UTY	7404	genome.wustl.edu	37	Y	15448130	15448130	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chrY:15448130delT	ENST00000331397.4	-	16	2863	c.1856delA	c.(1855-1857)cagfs	p.Q619fs	UTY_ENST00000329134.5_Frame_Shift_Del_p.Q619fs|UTY_ENST00000545955.1_Frame_Shift_Del_p.Q694fs|UTY_ENST00000382896.4_Frame_Shift_Del_p.Q664fs|UTY_ENST00000538878.1_Frame_Shift_Del_p.Q586fs|UTY_ENST00000540140.1_Frame_Shift_Del_p.Q616fs|UTY_ENST00000537580.1_Frame_Shift_Del_p.Q540fs|UTY_ENST00000362096.4_Frame_Shift_Del_p.Q619fs	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	619					regulation of gene expression (GO:0010468)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)			kidney(1)|lung(6)	7						GCTAGTTGCCTGGTGATACTG	0.438																																					Colon(103;1740 2135 40732 45171)												0													79.0	71.0	73.0					Y																	15448130		597	1949	2546	SO:0001589	frameshift_variant	0			AF000994	CCDS14783.1, CCDS14784.1, CCDS14785.1, CCDS59184.1, CCDS76073.1, CCDS76074.1, CCDS76075.1, CCDS76076.1, CCDS76077.1, CCDS76078.1, CCDS76079.1	Yq11.221	2013-11-04	2012-11-15		ENSG00000183878	ENSG00000183878		"""Tetratricopeptide (TTC) repeat domain containing"""	12638	protein-coding gene	gene with protein product		400009	"""ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome"", ""ubiquitously transcribed tetratricopeptide repeat gene, Y-linked"""			8944031, 9499428	Standard	NM_182659		Approved	KDM6AL	uc022ckf.2	O14607	OTTHUMG00000036319	ENST00000331397.4:c.1856delA	Y.37:g.15448130delT	ENSP00000328939:p.Gln619fs		A8K9Z3|E1U199|E1U1A0|F5H4V7|F8W8R7|O14608	Frame_Shift_Del	DEL	pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q664fs	ENST00000331397.4	37	c.1991	CCDS14783.1	Y																																																																																			UTY	-	NULL	ENSG00000183878		0.438	UTY-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UTY	HGNC	protein_coding	OTTHUMT00000088394.1		0.00	29	0	T	NM_182660		15448130	-1	tier1		no_errors	ENST00000382896	ensembl	human	known	74_37	frame_shift_del	22.22	7	2	DEL	1.000	-
VCAN	1462	genome.wustl.edu	37	5	82833726	82833726	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:82833726C>A	ENST00000265077.3	+	8	5469	c.4904C>A	c.(4903-4905)tCg>tAg	p.S1635*	VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Nonsense_Mutation_p.S648*	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1635	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GGGAGTTCTTCGATTCCAATT	0.423																																																	0													51.0	52.0	52.0					5																	82833726		2203	4300	6503	SO:0001587	stop_gained	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.4904C>A	5.37:g.82833726C>A	ENSP00000265077:p.Ser1635*		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Nonsense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.S1635*	ENST00000265077.3	37	c.4904	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	C	45	11.769937	0.99601	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	.	.	.	5.54	3.43	0.39272	.	0.277119	0.26163	N	0.025970	.	.	.	.	.	.	0.43693	D	0.996146	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5585	0.50764	0.0:0.8365:0.0:0.1635	.	.	.	.	X	1635;648;648	.	ENSP00000265077:S1635X	S	+	2	0	VCAN	82869482	0.086000	0.21541	0.184000	0.23157	0.015000	0.08874	0.733000	0.26087	1.350000	0.45770	0.655000	0.94253	TCG	VCAN	-	NULL	ENSG00000038427		0.423	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3		0.00	46	0	C	NM_004385		82833726	+1			no_errors	ENST00000265077	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	0.549	A
VIP	7432	genome.wustl.edu	37	6	153073408	153073408	+	Silent	SNP	T	T	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:153073408T>G	ENST00000367244.3	+	2	268	c.96T>G	c.(94-96)ccT>ccG	p.P32P	VIP_ENST00000367243.3_Silent_p.P32P	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	32					body fluid secretion (GO:0007589)|G-protein coupled receptor signaling pathway (GO:0007186)|learning or memory (GO:0007611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of penile erection (GO:0060406)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of vasodilation (GO:0045909)|regulation of protein localization (GO:0032880)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)	extracellular region (GO:0005576)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		ACAGGGCACCTTCTGCTCTCA	0.438																																																	0													124.0	105.0	112.0					6																	153073408		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5240.1, CCDS5241.1	6q24-q27	2013-02-28			ENSG00000146469	ENSG00000146469		"""Endogenous ligands"""	12693	protein-coding gene	gene with protein product	"""prepro-VIP"""	192320					Standard	NM_003381		Approved		uc003qpe.4	P01282	OTTHUMG00000015851	ENST00000367244.3:c.96T>G	6.37:g.153073408T>G			Q5TCY8|Q5TCY9|Q96QK3	Silent	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP	p.P32	ENST00000367244.3	37	c.96	CCDS5240.1	6																																																																																			VIP	-	NULL	ENSG00000146469		0.438	VIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VIP	HGNC	protein_coding	OTTHUMT00000042751.1	-	0.00	36	0	T			153073408	+1	tier1	-	no_errors	ENST00000367244	ensembl	human	known	74_37	silent	41.18	30	21	SNP	0.151	G
VWA3B	200403	genome.wustl.edu	37	2	98709643	98709643	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:98709643G>T	ENST00000477737.1	+	2	292	c.88G>T	c.(88-90)Gag>Tag	p.E30*	VWA3B_ENST00000451075.2_5'UTR|VWA3B_ENST00000435344.1_Nonsense_Mutation_p.E30*	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	30										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGACTTGGCTGAGCAGAGTCT	0.453																																																	0													114.0	107.0	110.0					2																	98709643		1965	4166	6131	SO:0001587	stop_gained	0			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.88G>T	2.37:g.98709643G>T	ENSP00000417955:p.Glu30*		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Nonsense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.E30*	ENST00000477737.1	37	c.88	CCDS42718.1	2	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704813	0.88924	.	.	ENSG00000168658	ENST00000435344;ENST00000477737	.	.	.	5.22	-4.27	0.03744	.	0.990599	0.08217	N	0.979737	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	1.786	0.03041	0.3669:0.2183:0.3041:0.1107	.	.	.	.	X	30	.	ENSP00000411168:E30X	E	+	1	0	VWA3B	98076075	0.162000	0.22906	0.001000	0.08648	0.551000	0.35334	0.419000	0.21247	-0.614000	0.05687	-0.145000	0.13849	GAG	VWA3B	-	NULL	ENSG00000168658		0.453	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2		0.00	41	0	G	NM_144992		98709643	+1			no_errors	ENST00000477737	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	0.000	T
VWF	7450	genome.wustl.edu	37	12	6167091	6167091	+	Silent	SNP	G	G	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:6167091G>A	ENST00000261405.5	-	14	1907	c.1653C>T	c.(1651-1653)aaC>aaT	p.N551N		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	551	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCTTCCAGGCGTTCCCGAAGT	0.652																																																	0													64.0	65.0	64.0					12																	6167091		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1653C>T	12.37:g.6167091G>A			Q8TCE8|Q99806	Silent	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.N551	ENST00000261405.5	37	c.1653	CCDS8539.1	12																																																																																			VWF	-	pirsf_VWF	ENSG00000110799		0.652	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	-	0.00	93	0	G	NM_000552		6167091	-1	tier1	-	no_errors	ENST00000261405	ensembl	human	known	74_37	silent	59.85	53	79	SNP	0.145	A
WBSCR17	64409	genome.wustl.edu	37	7	70597831	70597831	+	Missense_Mutation	SNP	T	T	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:70597831T>G	ENST00000333538.5	+	1	677	c.43T>G	c.(43-45)Ttg>Gtg	p.L15V		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	15					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGTGTTGAACTTGATCGCGGT	0.687																																																	0													58.0	54.0	55.0					7																	70597831		2201	4300	6501	SO:0001583	missense	0			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.43T>G	7.37:g.70597831T>G	ENSP00000329654:p.Leu15Val		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.L15V	ENST00000333538.5	37	c.43	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	T	15.37	2.812566	0.50527	.	.	ENSG00000185274	ENST00000333538	T	0.55234	0.53	4.85	1.1	0.20463	.	0.703928	0.13216	N	0.404740	T	0.29524	0.0736	N	0.14661	0.345	0.33108	D	0.540163	B	0.17852	0.024	B	0.14023	0.01	T	0.35724	-0.9777	10	0.10111	T	0.7	.	9.0279	0.36241	0.0:0.3886:0.0:0.6114	.	15	Q6IS24	GLTL3_HUMAN	V	15	ENSP00000329654:L15V	ENSP00000329654:L15V	L	+	1	2	WBSCR17	70235767	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	0.984000	0.29565	0.350000	0.24002	-0.400000	0.06385	TTG	WBSCR17	-	NULL	ENSG00000185274		0.687	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	-	0.00	62	0	T	NM_022479		70597831	+1	tier1	-	no_errors	ENST00000333538	ensembl	human	known	74_37	missense	40.82	28	20	SNP	0.996	G
WBSCR27	155368	genome.wustl.edu	37	7	73255498	73255498	+	Missense_Mutation	SNP	G	G	T	rs199987498		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:73255498G>T	ENST00000297873.4	-	3	203	c.154C>A	c.(154-156)Cgc>Agc	p.R52S		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	52										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				ACTGCGAGGCGGGGCGCACGG	0.667																																																	0													27.0	27.0	27.0					7																	73255498		2202	4299	6501	SO:0001583	missense	0			AF534110	CCDS5561.1	7q11.23	2004-07-05			ENSG00000165171	ENSG00000165171			19068	protein-coding gene	gene with protein product		612546					Standard	NM_152559		Approved		uc003tzj.2	Q8N6F8	OTTHUMG00000130033	ENST00000297873.4:c.154C>A	7.37:g.73255498G>T	ENSP00000297873:p.Arg52Ser			Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase	p.R52S	ENST00000297873.4	37	c.154	CCDS5561.1	7	.	.	.	.	.	.	.	.	.	.	G	1.097	-0.662156	0.03454	.	.	ENSG00000165171	ENST00000297873	T	0.34859	1.34	4.03	-0.281	0.12882	.	1.331270	0.04568	N	0.392807	T	0.27098	0.0664	L	0.55834	1.745	0.09310	N	1	B;B	0.32071	0.355;0.026	B;B	0.25987	0.065;0.016	T	0.10753	-1.0616	10	0.13470	T	0.59	-3.4056	3.1668	0.06539	0.212:0.0:0.4268:0.3612	.	52;52	B4DWM3;Q8N6F8	.;WBS27_HUMAN	S	52	ENSP00000297873:R52S	ENSP00000297873:R52S	R	-	1	0	WBSCR27	72893434	0.000000	0.05858	0.044000	0.18714	0.015000	0.08874	-0.191000	0.09601	-0.178000	0.10672	0.561000	0.74099	CGC	WBSCR27	-	pfam_UbiE/COQ5_MeTrFase	ENSG00000165171		0.667	WBSCR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR27	HGNC	protein_coding	OTTHUMT00000252312.1	-	0.00	68	0	G	NM_152559		73255498	-1	tier1	-	no_errors	ENST00000297873	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.116	T
WDFY4	57705	genome.wustl.edu	37	10	50034933	50034933	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:50034933delT	ENST00000325239.5	+	35	6227	c.6200delT	c.(6199-6201)cttfs	p.L2070fs	WDFY4_ENST00000413659.2_3'UTR	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	2070						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						ATGCATTGCCTTTTGCTACTC	0.493																																																	0													108.0	88.0	94.0					10																	50034933		692	1591	2283	SO:0001589	frameshift_variant	0			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.6200delT	10.37:g.50034933delT	ENSP00000320563:p.Leu2070fs		B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Frame_Shift_Del	DEL	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L2068fs	ENST00000325239.5	37	c.6200	CCDS44385.1	10																																																																																			WDFY4	-	NULL	ENSG00000128815		0.493	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding			0.00	30	0	T	XM_033379		50034933	+1	tier1		no_errors	ENST00000325239	ensembl	human	known	74_37	frame_shift_del	5.26	36	2	DEL	0.996	-
WDPCP	51057	genome.wustl.edu	37	2	63660881	63660881	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:63660881C>T	ENST00000272321.7	-	9	1350	c.823G>A	c.(823-825)Gag>Aag	p.E275K	WDPCP_ENST00000398544.3_Missense_Mutation_p.E116K|WDPCP_ENST00000409562.3_Missense_Mutation_p.E275K|WDPCP_ENST00000409120.1_Missense_Mutation_p.E83K|WDPCP_ENST00000409199.1_Missense_Mutation_p.E83K|WDPCP_ENST00000409835.1_5'UTR	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	275					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						AGATTTACCTCTAGTCTTCCT	0.353																																																	0													47.0	43.0	44.0					2																	63660881		1827	4086	5913	SO:0001583	missense	0				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.823G>A	2.37:g.63660881C>T	ENSP00000272321:p.Glu275Lys		Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	pfam_DUF3312,superfamily_WD40_repeat_dom	p.E275K	ENST00000272321.7	37	c.823	CCDS42688.1	2	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164976	0.57476	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544;ENST00000409562	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	5.43	5.43	0.79202	.	0.059482	0.64402	D	0.000003	T	0.68174	0.2972	M	0.69358	2.11	0.50467	D	0.999875	D;D;P;D	0.69078	0.997;0.996;0.638;0.983	D;D;B;P	0.77557	0.926;0.99;0.257;0.808	T	0.69639	-0.5091	10	0.59425	D	0.04	-10.6804	18.2201	0.89898	0.0:1.0:0.0:0.0	.	83;275;275;116	E9PFG9;O95876-2;O95876;O95876-3	.;.;FRITZ_HUMAN;.	K	275;83;83;116;275	ENSP00000272321:E275K;ENSP00000386592:E83K;ENSP00000386769:E83K;ENSP00000381552:E116K;ENSP00000387222:E275K	ENSP00000272321:E275K	E	-	1	0	WDPCP	63514385	0.995000	0.38212	1.000000	0.80357	0.992000	0.81027	2.900000	0.48687	2.546000	0.85860	0.563000	0.77884	GAG	WDPCP	-	pfam_DUF3312	ENSG00000143951		0.353	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDPCP	HGNC	protein_coding	OTTHUMT00000326820.1	-	0.00	41	0	C	NM_015910		63660881	-1	tier1	-	no_errors	ENST00000272321	ensembl	human	known	74_37	missense	25.58	32	11	SNP	1.000	T
WTAP	9589	genome.wustl.edu	37	6	160176454	160176454	+	Silent	SNP	G	G	A	rs370838345		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:160176454G>A	ENST00000358372.4	+	8	2759	c.1002G>A	c.(1000-1002)gcG>gcA	p.A334A	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	334					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		AACTCAGTGCGGGGTATGAAA	0.483																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	106.0	98.0	100.0		1002	1.6	1.0	6		100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WTAP	NM_004906.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		334/397	160176454	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.1002G>A	6.37:g.160176454G>A			Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Silent	SNP	NULL	p.A334	ENST00000358372.4	37	c.1002	CCDS5266.1	6																																																																																			WTAP	-	NULL	ENSG00000146457		0.483	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WTAP	HGNC	protein_coding	OTTHUMT00000042905.1	-	0.00	60	0	G	NM_152857		160176454	+1	tier1	-	no_errors	ENST00000358372	ensembl	human	known	74_37	silent	50.65	38	39	SNP	1.000	A
ZBED5	58486	genome.wustl.edu	37	11	10874583	10874583	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:10874583G>T	ENST00000432999.2	-	3	2408	c.1910C>A	c.(1909-1911)cCt>cAt	p.P637H	ZBED5_ENST00000525350.1_Intron|ZBED5_ENST00000413761.2_Missense_Mutation_p.P637H	NM_001143667.1|NM_021211.3	NP_001137139.1|NP_067034.2	Q49AG3	ZBED5_HUMAN	zinc finger, BED-type containing 5	637							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)	4						tgtagcaaaaggaagaagtac	0.398																																																	0													124.0	107.0	112.0					11																	10874583		692	1591	2283	SO:0001583	missense	0			AF205601		11p15.3	2013-05-03			ENSG00000236287	ENSG00000236287		"""Zinc fingers, BED-type"""	30803	protein-coding gene	gene with protein product		615251				10607616, 23533661	Standard	NM_021211		Approved	Buster1	uc009ygh.3	Q49AG3	OTTHUMG00000150341	ENST00000432999.2:c.1910C>A	11.37:g.10874583G>T	ENSP00000398106:p.Pro637His		B2RCC1|Q05D82|Q86WW3|Q9NT24|Q9UBJ4	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,pfscan_Znf_BED_prd	p.P637H	ENST00000432999.2	37	c.1910		11	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343334	0.41498	.	.	ENSG00000236287	ENST00000432999;ENST00000413761	T;T	0.21543	2.0;2.0	3.77	3.77	0.43336	Ribonuclease H-like (1);	.	.	.	.	T	0.41073	0.1143	M	0.85041	2.73	0.30467	N	0.773733	D	0.62365	0.991	P	0.56216	0.794	T	0.39210	-0.9625	9	0.30078	T	0.28	.	11.4284	0.50025	0.0:0.0:1.0:0.0	.	637	Q49AG3	ZBED5_HUMAN	H	637	ENSP00000398106:P637H;ENSP00000415939:P637H	ENSP00000415939:P637H	P	-	2	0	ZBED5	10831159	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.610000	0.54125	2.393000	0.81446	0.650000	0.86243	CCT	ZBED5	-	superfamily_RNaseH-like_dom	ENSG00000236287		0.398	ZBED5-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	ZBED5	HGNC	protein_coding	OTTHUMT00000317691.1	-	0.00	37	0	G	NM_021211		10874583	-1	tier1	-	no_errors	ENST00000413761	ensembl	human	putative	74_37	missense	8.33	44	4	SNP	1.000	T
ZC3H12B	340554	genome.wustl.edu	37	X	64718911	64718911	+	Missense_Mutation	SNP	A	A	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chrX:64718911A>G	ENST00000338957.4	+	3	848	c.781A>G	c.(781-783)Aag>Gag	p.K261E	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.K250E	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	261							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAGAAGGAAAAGATTCTTGT	0.398																																																	0													154.0	145.0	148.0					X																	64718911		1892	4101	5993	SO:0001583	missense	0			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.781A>G	X.37:g.64718911A>G	ENSP00000340839:p.Lys261Glu		B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.K261E	ENST00000338957.4	37	c.781	CCDS48131.2	X	.	.	.	.	.	.	.	.	.	.	A	23.7	4.448771	0.84101	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.41065	1.01;1.01	5.3	5.3	0.74995	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.57873	0.2083	L	0.52266	1.64	0.54753	D	0.999989	D	0.76494	0.999	D	0.83275	0.996	T	0.59225	-0.7494	10	0.54805	T	0.06	-2.0986	13.1105	0.59270	1.0:0.0:0.0:0.0	.	250	Q5HYM0	ZC12B_HUMAN	E	261;250;197	ENSP00000340839:K261E;ENSP00000408077:K250E	ENSP00000218172:K197E	K	+	1	0	ZC3H12B	64635636	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.209000	0.77916	1.778000	0.52293	0.356000	0.21956	AAG	ZC3H12B	-	pfam_RNase_Zc3h12	ENSG00000102053		0.398	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	HGNC	protein_coding	OTTHUMT00000378734.2	-	0.00	35	0	A	XM_293334		64718911	+1	tier1	-	no_errors	ENST00000338957	ensembl	human	known	74_37	missense	76.47	8	26	SNP	1.000	G
ZCCHC9	84240	genome.wustl.edu	37	5	80604424	80604424	+	Silent	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:80604424C>T	ENST00000254037.2	+	2	3584	c.429C>T	c.(427-429)tgC>tgT	p.C143C	ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000380199.5_Silent_p.C143C|ZCCHC9_ENST00000407610.3_Silent_p.C143C|ZCCHC9_ENST00000438268.2_Silent_p.C143C			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	143					negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		TTGCAGATTGCCCCGCCGCCC	0.463																																																	0													88.0	89.0	89.0					5																	80604424		2203	4300	6503	SO:0001819	synonymous_variant	0			BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"""Zinc fingers, CCHC domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25424	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 41"""					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.429C>T	5.37:g.80604424C>T			B2RAE7|Q9H027	Silent	SNP	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.C143	ENST00000254037.2	37	c.429	CCDS4054.1	5																																																																																			ZCCHC9	-	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	ENSG00000131732		0.463	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZCCHC9	HGNC	protein_coding	OTTHUMT00000239213.1	-	0.00	82	0	C	NM_032280		80604424	+1	tier1	-	no_errors	ENST00000254037	ensembl	human	known	74_37	silent	6.67	56	4	SNP	1.000	T
ZDHHC23	254887	genome.wustl.edu	37	3	113667754	113667754	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:113667754G>T	ENST00000330212.3	+	2	404	c.105G>T	c.(103-105)aaG>aaT	p.K35N	RP11-255E6.6_ENST00000609657.1_RNA|ZDHHC23_ENST00000498275.1_Missense_Mutation_p.K29N	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	35					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						ATGGGGAAAAGAACCACGTGG	0.488																																																	0													247.0	219.0	228.0					3																	113667754		2203	4300	6503	SO:0001583	missense	0			AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.105G>T	3.37:g.113667754G>T	ENSP00000330485:p.Lys35Asn		D3DN76	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.K35N	ENST00000330212.3	37	c.105	CCDS33827.1	3	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414047	0.62511	.	.	ENSG00000184307	ENST00000330212;ENST00000498275;ENST00000491556	T;T;T	0.52295	0.67;0.68;0.75	5.38	4.51	0.55191	.	0.061972	0.64402	D	0.000006	T	0.34978	0.0916	L	0.29908	0.895	0.40053	D	0.975796	P	0.44195	0.828	B	0.36922	0.236	T	0.34428	-0.9829	10	0.72032	D	0.01	-0.0669	13.1187	0.59314	0.0793:0.0:0.9207:0.0	.	35	Q8IYP9	ZDH23_HUMAN	N	35;29;35	ENSP00000330485:K35N;ENSP00000417840:K29N;ENSP00000420292:K35N	ENSP00000330485:K35N	K	+	3	2	ZDHHC23	115150444	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.497000	0.45354	1.264000	0.44198	0.591000	0.81541	AAG	ZDHHC23	-	NULL	ENSG00000184307		0.488	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC23	HGNC	protein_coding	OTTHUMT00000354702.1	-	0.00	67	0	G	NM_173570		113667754	+1	tier1	-	no_errors	ENST00000478793	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T
ZFP91	80829	genome.wustl.edu	37	11	58381734	58381734	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:58381734G>T	ENST00000316059.6	+	9	1191	c.1020G>T	c.(1018-1020)aaG>aaT	p.K340N	AP001350.1_ENST00000601906.1_5'Flank|ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.K340N	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	340	Interaction with MAP3K14/NIK.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)	p.K340N(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGCTGAAGAAGAAATATGTAT	0.398																																																	2	Substitution - Missense(2)	lung(2)											89.0	83.0	85.0					11																	58381734		2201	4295	6496	SO:0001583	missense	0			AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1020G>T	11.37:g.58381734G>T	ENSP00000339030:p.Lys340Asn		A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K340N	ENST00000316059.6	37	c.1020	CCDS31553.1	11	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230226	0.79688	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.14766	2.48	5.97	4.1	0.47936	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.29716	0.0742	L	0.58302	1.8	0.54753	D	0.999986	D;D	0.71674	0.998;0.997	D;P	0.66351	0.943;0.879	T	0.01337	-1.1381	10	0.87932	D	0	-20.8441	10.8807	0.46937	0.1554:0.0:0.8446:0.0	.	340;340	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	N	340	ENSP00000339030:K340N	ENSP00000374569:K340N	K	+	3	2	ZFP91	58138310	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.012000	0.49575	0.845000	0.35118	0.585000	0.79938	AAG	ZFP91	-	NULL	ENSG00000186660		0.398	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP91	HGNC	protein_coding	OTTHUMT00000268674.1		0.00	29	0	G	NM_053023		58381734	+1			no_errors	ENST00000316059	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	T
ZMYND12	84217	genome.wustl.edu	37	1	42901085	42901085	+	Intron	SNP	A	A	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:42901085A>G	ENST00000372565.3	-	6	987				ZMYND12_ENST00000433602.2_Intron|ZMYND12_ENST00000475426.1_5'UTR	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12							intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTAATACAACAAGCAGGCCAG	0.512																																																	0													125.0	118.0	120.0					1																	42901085		2203	4300	6503	SO:0001627	intron_variant	0			AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.718-29T>C	1.37:g.42901085A>G			Q5VUS6|Q8TC87|Q96M51	RNA	SNP	-	NULL	ENST00000372565.3	37	NULL	CCDS467.1	1																																																																																			ZMYND12	-	-	ENSG00000066185		0.512	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND12	HGNC	protein_coding	OTTHUMT00000019170.1	-	0.00	24	0	A	NM_032257		42901085	-1	tier1	-	no_errors	ENST00000475426	ensembl	human	known	74_37	rna	23.53	26	8	SNP	0.000	G
ZNF174	7727	genome.wustl.edu	37	16	3458450	3458450	+	Missense_Mutation	SNP	C	C	A			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:3458450C>A	ENST00000268655.4	+	3	1340	c.755C>A	c.(754-756)gCa>gAa	p.A252E	ZNF174_ENST00000571936.1_Missense_Mutation_p.A252E	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	252					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						CCAAGAGGGGCAAATATGAGT	0.507																																																	0													97.0	87.0	91.0					16																	3458450		2197	4300	6497	SO:0001583	missense	0			U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"""-"", ""Zinc fingers, C2H2-type"""	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.755C>A	16.37:g.3458450C>A	ENSP00000268655:p.Ala252Glu		Q53Y68|Q9BQ34	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.A252E	ENST00000268655.4	37	c.755	CCDS10504.1	16	.	.	.	.	.	.	.	.	.	.	C	6.333	0.429615	0.11987	.	.	ENSG00000103343	ENST00000268655	T	0.06528	3.29	4.65	-1.06	0.10002	.	0.767209	0.11512	N	0.556570	T	0.02888	0.0086	N	0.19112	0.55	0.19300	N	0.999979	B	0.06786	0.001	B	0.04013	0.001	T	0.47045	-0.9147	10	0.05959	T	0.93	.	4.2753	0.10806	0.1532:0.4349:0.0:0.4119	.	252	Q15697	ZN174_HUMAN	E	252	ENSP00000268655:A252E	ENSP00000268655:A252E	A	+	2	0	ZNF174	3398451	0.000000	0.05858	0.046000	0.18839	0.891000	0.51852	0.004000	0.13106	-0.126000	0.11682	0.557000	0.71058	GCA	ZNF174	-	NULL	ENSG00000103343		0.507	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF174	HGNC	protein_coding	OTTHUMT00000251510.1	-	0.00	82	0	C	NM_003450		3458450	+1	tier1	-	no_errors	ENST00000268655	ensembl	human	known	74_37	missense	41.67	35	25	SNP	0.004	A
ZNF43	7594	genome.wustl.edu	37	19	21990665	21990665	+	Missense_Mutation	SNP	T	T	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:21990665T>G	ENST00000354959.4	-	4	2343	c.2174A>C	c.(2173-2175)aAg>aCg	p.K725T	ZNF43_ENST00000598381.1_Missense_Mutation_p.K719T|ZNF43_ENST00000594012.1_Missense_Mutation_p.K719T|ZNF43_ENST00000595461.1_Missense_Mutation_p.K719T	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	725					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATGAATTTTCTTATGTTCAAT	0.343																																																	0													57.0	61.0	60.0					19																	21990665		2202	4299	6501	SO:0001583	missense	0			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.2174A>C	19.37:g.21990665T>G	ENSP00000347045:p.Lys725Thr		A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	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.K725T	ENST00000354959.4	37	c.2174	CCDS12413.2	19	.	.	.	.	.	.	.	.	.	.	T	11.33	1.608092	0.28623	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.51817	0.69	1.76	0.534	0.17127	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48786	0.1519	L	0.39514	1.22	0.21802	N	0.99954	D	0.60160	0.987	P	0.62089	0.898	T	0.35276	-0.9795	9	0.72032	D	0.01	.	2.1576	0.03816	0.2548:0.1649:0.0:0.5803	.	725	P17038	ZNF43_HUMAN	T	724;725	ENSP00000347045:K725T	ENSP00000347045:K725T	K	-	2	0	ZNF43	21782505	0.000000	0.05858	0.001000	0.08648	0.808000	0.45660	-0.583000	0.05807	-0.062000	0.13088	0.254000	0.18369	AAG	ZNF43	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198521		0.343	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF43	HGNC	protein_coding	OTTHUMT00000250380.2	-	0.00	26	0	T	NM_003423		21990665	-1	tier1	-	no_errors	ENST00000354959	ensembl	human	known	74_37	missense	45.16	17	14	SNP	0.682	G
ZNF607	84775	genome.wustl.edu	37	19	38189849	38189849	+	Missense_Mutation	SNP	A	A	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:38189849A>G	ENST00000355202.4	-	5	1778	c.1183T>C	c.(1183-1185)Tgt>Cgt	p.C395R	ZNF607_ENST00000395835.3_Missense_Mutation_p.C394R|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CATTTGTTACATTCATAGGGT	0.393																																																	0													85.0	85.0	85.0					19																	38189849		2203	4300	6503	SO:0001583	missense	0			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1183T>C	19.37:g.38189849A>G	ENSP00000347338:p.Cys395Arg		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	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.C395R	ENST00000355202.4	37	c.1183	CCDS33006.1	19	.	.	.	.	.	.	.	.	.	.	A	14.56	2.572512	0.45798	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	D;D	0.85258	-1.96;-1.96	1.77	1.77	0.24775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94155	0.8125	H	0.98238	4.18	0.52501	D	0.999954	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92984	0.6409	9	0.87932	D	0	.	8.3384	0.32228	1.0:0.0:0.0:0.0	.	395;394	Q96SK3;F5H141	ZN607_HUMAN;.	R	395;394	ENSP00000347338:C395R;ENSP00000438015:C394R	ENSP00000347338:C395R	C	-	1	0	ZNF607	42881689	0.996000	0.38824	0.142000	0.22268	0.768000	0.43524	5.717000	0.68446	0.803000	0.34113	0.459000	0.35465	TGT	ZNF607	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198182		0.393	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF607	HGNC	protein_coding	OTTHUMT00000459502.2		0.00	69	0	A	NM_032689		38189849	-1			no_errors	ENST00000355202	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.835	G
ZNF609	23060	genome.wustl.edu	37	15	64792330	64792330	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:64792330G>T	ENST00000326648.3	+	1	840	c.712G>T	c.(712-714)Gag>Tag	p.E238*	ZNF609_ENST00000416172.1_Nonsense_Mutation_p.E238*	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	238						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGGGGAGAATGAGTGTCGCCT	0.537																																																	0													46.0	43.0	44.0					15																	64792330		2203	4296	6499	SO:0001587	stop_gained	0			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.712G>T	15.37:g.64792330G>T	ENSP00000316527:p.Glu238*		Q0D2I2	Nonsense_Mutation	SNP	pfscan_Znf_C2H2	p.E238*	ENST00000326648.3	37	c.712	CCDS32270.1	15	.	.	.	.	.	.	.	.	.	.	.	37	6.425288	0.97555	.	.	ENSG00000180357	ENST00000416172;ENST00000326648	.	.	.	5.66	5.66	0.87406	.	0.058733	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-15.9181	20.0989	0.97860	0.0:0.0:1.0:0.0	.	.	.	.	X	238	.	ENSP00000316527:E238X	E	+	1	0	ZNF609	62579383	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.140000	0.94607	2.830000	0.97506	0.655000	0.94253	GAG	ZNF609	-	NULL	ENSG00000180357		0.537	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF609	HGNC	protein_coding	OTTHUMT00000418130.1	-	0.00	55	0	G	XM_042833		64792330	+1	tier1	-	no_errors	ENST00000326648	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	1.000	T
ZNF644	84146	genome.wustl.edu	37	1	91405548	91405548	+	Silent	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:91405548G>T	ENST00000370440.1	-	3	1580	c.1363C>A	c.(1363-1365)Cgg>Agg	p.R455R	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Silent_p.R455R|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R455W(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CGAAATGTCCGTCCACATTCT	0.403																																																	1	Substitution - Missense(1)	lung(1)											110.0	112.0	112.0					1																	91405548		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.1363C>A	1.37:g.91405548G>T			A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R455	ENST00000370440.1	37	c.1363	CCDS731.1	1																																																																																			ZNF644	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000122482		0.403	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	HGNC	protein_coding	OTTHUMT00000027846.2		0.00	45	0	G	NM_032186		91405548	-1			no_errors	ENST00000337393	ensembl	human	known	74_37	silent	5.41	35	2	SNP	1.000	T
ZNF677	342926	genome.wustl.edu	37	19	53741574	53741574	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:53741574G>T	ENST00000598513.1	-	5	556	c.406C>A	c.(406-408)Cat>Aat	p.H136N	ZNF677_ENST00000333952.4_Missense_Mutation_p.H136N|CTD-2245F17.6_ENST00000596041.1_RNA	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		GATTTATTATGTTGTTGATCT	0.338																																																	0													152.0	145.0	148.0					19																	53741574		2203	4300	6503	SO:0001583	missense	0			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.406C>A	19.37:g.53741574G>T	ENSP00000469391:p.His136Asn			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.H136N	ENST00000598513.1	37	c.406	CCDS12861.1	19	.	.	.	.	.	.	.	.	.	.	G	0	-2.707882	0.00096	.	.	ENSG00000197928	ENST00000416063;ENST00000333952	T	0.07021	3.23	1.78	0.733	0.18289	.	0.753644	0.10906	N	0.621080	T	0.03959	0.0111	N	0.14661	0.345	0.09310	N	1	B	0.24186	0.099	B	0.21151	0.033	T	0.44711	-0.9310	10	0.25106	T	0.35	.	2.375	0.04339	0.1839:0.0:0.5204:0.2957	.	136	Q86XU0	ZN677_HUMAN	N	136	ENSP00000334394:H136N	ENSP00000334394:H136N	H	-	1	0	ZNF677	58433386	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.226000	0.09139	0.320000	0.23234	0.609000	0.83330	CAT	ZNF677	-	NULL	ENSG00000197928		0.338	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF677	HGNC	protein_coding	OTTHUMT00000464189.1	-	0.00	51	0	G	NM_182609		53741574	-1	tier1	-	no_errors	ENST00000333952	ensembl	human	known	74_37	missense	6.45	57	4	SNP	0.001	T
ZNF680	340252	genome.wustl.edu	37	7	63982352	63982352	+	Silent	SNP	A	A	G			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:63982352A>G	ENST00000309683.6	-	4	931	c.780T>C	c.(778-780)caT>caC	p.H260H	ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TCTCTTCAATATGAATTTTCT	0.343																																																	0													35.0	38.0	37.0					7																	63982352		2203	4297	6500	SO:0001819	synonymous_variant	0			AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	26897	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.780T>C	7.37:g.63982352A>G			B3KVJ4|Q6ZNF3|Q8NC79	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.H260	ENST00000309683.6	37	c.780	CCDS34644.1	7																																																																																			ZNF680	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173041		0.343	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF680	HGNC	protein_coding	OTTHUMT00000344568.1	-	0.00	51	0	A	NM_178558		63982352	-1	tier1	-	no_errors	ENST00000309683	ensembl	human	known	74_37	silent	46.81	25	22	SNP	1.000	G
ZNF831	128611	genome.wustl.edu	37	20	57766949	57766949	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr20:57766949C>T	ENST00000371030.2	+	1	875	c.875C>T	c.(874-876)gCg>gTg	p.A292V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	292							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGCTCCCAGCGGCCAGCACA	0.677																																																	0													44.0	50.0	48.0					20																	57766949		2000	4172	6172	SO:0001583	missense	0			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.875C>T	20.37:g.57766949C>T	ENSP00000360069:p.Ala292Val		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A292V	ENST00000371030.2	37	c.875	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	C	1.888	-0.456134	0.04540	.	.	ENSG00000124203	ENST00000371030	T	0.04706	3.57	5.07	-5.53	0.02552	.	.	.	.	.	T	0.01627	0.0052	N	0.02011	-0.69	0.09310	N	1	B	0.18166	0.026	B	0.04013	0.001	T	0.49504	-0.8933	9	0.23302	T	0.38	.	7.9531	0.30027	0.1996:0.5258:0.0:0.2746	.	292	Q5JPB2	ZN831_HUMAN	V	292	ENSP00000360069:A292V	ENSP00000360069:A292V	A	+	2	0	ZNF831	57200344	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.466000	0.06672	-1.038000	0.03279	-0.145000	0.13849	GCG	ZNF831	-	NULL	ENSG00000124203		0.677	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	-	0.00	59	0	C	NM_178457		57766949	+1	tier1	-	no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	15.66	70	13	SNP	0.000	T
ZRANB1	54764	genome.wustl.edu	37	10	126671772	126671772	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:126671772delT	ENST00000359653.4	+	7	1948	c.1577delT	c.(1576-1578)attfs	p.I526fs	ZRANB1_ENST00000471421.1_3'UTR	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	526	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		CAGACGCACATTTTTGTACTG	0.358																																																	0													98.0	103.0	101.0					10																	126671772		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1577delT	10.37:g.126671772delT	ENSP00000352676:p.Ile526fs		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Frame_Shift_Del	DEL	pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2	p.F527fs	ENST00000359653.4	37	c.1577	CCDS7642.1	10																																																																																			ZRANB1	-	pfam_OTU,pfscan_OTU	ENSG00000019995		0.358	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZRANB1	HGNC	protein_coding	OTTHUMT00000050898.1		0.00	27	0	T	NM_017580		126671772	+1	tier1		no_errors	ENST00000359653	ensembl	human	known	74_37	frame_shift_del	7.14	26	2	DEL	1.000	-
ZSCAN9	7746	genome.wustl.edu	37	6	28200505	28200505	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:28200505G>T	ENST00000252207.5	+	4	882	c.734G>T	c.(733-735)tGg>tTg	p.W245L	ZSCAN9_ENST00000531979.1_Missense_Mutation_p.W245L|ZSCAN9_ENST00000425468.2_Missense_Mutation_p.W296L	NM_006299.4	NP_006290.1	O15535	ZSC9_HUMAN	zinc finger and SCAN domain containing 9	245					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GAGAGGCAGTGGGGAAACCTC	0.463																																																	0													88.0	74.0	79.0					6																	28200505		2203	4300	6503	SO:0001583	missense	0			U62392	CCDS4646.1, CCDS56407.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000137185	ENSG00000137185		"""-"", ""Zinc fingers, C2H2-type"""	12984	protein-coding gene	gene with protein product		602246	"""zinc finger protein 193"""	ZNF193			Standard	NM_001199479		Approved	PRD51	uc003nkq.2	O15535	OTTHUMG00000014515	ENST00000252207.5:c.734G>T	6.37:g.28200505G>T	ENSP00000252207:p.Trp245Leu		B4E1W6|E7EVQ2|Q2TTR1	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.W245L	ENST00000252207.5	37	c.734	CCDS4646.1	6	.	.	.	.	.	.	.	.	.	.	G	8.387	0.838763	0.16891	.	.	ENSG00000137185	ENST00000425468;ENST00000252207;ENST00000531979;ENST00000527844	T;T;T;T	0.00922	5.54;5.54;5.54;5.54	3.58	1.75	0.24633	.	.	.	.	.	T	0.00271	0.0008	N	0.16166	0.38	0.09310	N	1	B;B	0.15930	0.015;0.005	B;B	0.12156	0.007;0.004	T	0.39375	-0.9617	9	0.36615	T	0.2	.	5.2834	0.15688	0.3833:0.0:0.6167:0.0	.	296;245	E7EVQ2;O15535	.;ZN193_HUMAN	L	296;245;245;274	ENSP00000404074:W296L;ENSP00000252207:W245L;ENSP00000433402:W245L;ENSP00000436166:W274L	ENSP00000252207:W245L	W	+	2	0	ZNF193	28308484	0.001000	0.12720	0.003000	0.11579	0.127000	0.20565	0.379000	0.20585	0.489000	0.27749	-0.140000	0.14226	TGG	ZSCAN9	-	NULL	ENSG00000137185		0.463	ZSCAN9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZSCAN9	HGNC	protein_coding	OTTHUMT00000040183.2	-	0.00	44	0	G	NM_006299		28200505	+1	tier1	-	no_errors	ENST00000252207	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.001	T
