#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
ADAMTS5	11096	genome.wustl.edu	37	21	28338289	28338289	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr21:28338289C>T	ENST00000284987.5	-	1	543	c.422G>A	c.(421-423)cGc>cAc	p.R141H		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	141					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AGCCAGAGAGCGGGGACTACC	0.677																																					Esophageal Squamous(53;683 1080 10100 14424 45938)												0													27.0	25.0	26.0					21																	28338289		2203	4300	6503	SO:0001583	missense	0			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.422G>A	21.37:g.28338289C>T	ENSP00000284987:p.Arg141His		Q52LV4|Q9UKP2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,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-TS5,prints_Peptidase_M12B_ADAM-TS	p.R141H	ENST00000284987.5	37	c.422	CCDS13579.1	21	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320516	0.60634	.	.	ENSG00000154736	ENST00000284987	T	0.05996	3.36	4.57	4.57	0.56435	Peptidase M12B, propeptide (1);	0.156831	0.45126	D	0.000398	T	0.11196	0.0273	L	0.37630	1.12	0.33410	D	0.578469	D	0.59767	0.986	P	0.55667	0.781	T	0.05419	-1.0886	10	0.51188	T	0.08	.	10.785	0.46401	0.0:0.9123:0.0:0.0877	.	141	Q9UNA0	ATS5_HUMAN	H	141	ENSP00000284987:R141H	ENSP00000284987:R141H	R	-	2	0	ADAMTS5	27260160	0.966000	0.33281	0.996000	0.52242	0.754000	0.42855	2.639000	0.46570	2.344000	0.79699	0.563000	0.77884	CGC	ADAMTS5	-	pfam_Peptidase_M12B_N	ENSG00000154736		0.677	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS5	HGNC	protein_coding	OTTHUMT00000171648.1		0.00	67	0	C			28338289	-1			no_errors	ENST00000284987	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T
ADCK4	79934	genome.wustl.edu	37	19	41216000	41216000	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr19:41216000C>A	ENST00000324464.3	-	5	632	c.331G>T	c.(331-333)Gct>Tct	p.A111S	ADCK4_ENST00000450541.1_Missense_Mutation_p.A111S|RNU6-195P_ENST00000411352.1_RNA|ADCK4_ENST00000243583.6_Missense_Mutation_p.A111S	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	111						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GACTTCTTAGCCATCTCGGCC	0.597																																																	0													115.0	86.0	96.0					19																	41216000		2203	4300	6503	SO:0001583	missense	0			AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.331G>T	19.37:g.41216000C>A	ENSP00000315118:p.Ala111Ser		Q8TAJ1|Q9HA52	Missense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.A111S	ENST00000324464.3	37	c.331	CCDS12562.1	19	.	.	.	.	.	.	.	.	.	.	c	9.211	1.030863	0.19590	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.75821	-0.97;-0.74;-0.74	4.72	2.59	0.31030	.	0.286277	0.38217	N	0.001765	T	0.61837	0.2379	L	0.55743	1.74	0.23791	N	0.996832	B;B	0.28998	0.07;0.23	B;B	0.30716	0.034;0.119	T	0.43343	-0.9397	10	0.10636	T	0.68	-3.8781	5.2231	0.15379	0.2028:0.6908:0.0:0.1064	.	111;111	Q96D53;Q96D53-2	ADCK4_HUMAN;.	S	111	ENSP00000315118:A111S;ENSP00000412839:A111S;ENSP00000243583:A111S	ENSP00000243583:A111S	A	-	1	0	ADCK4	45907840	0.979000	0.34478	0.897000	0.35233	0.042000	0.13812	2.274000	0.43390	0.597000	0.29811	-0.231000	0.12243	GCT	ADCK4	-	NULL	ENSG00000123815		0.597	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADCK4	HGNC	protein_coding	OTTHUMT00000462731.1	-	0.00	43	0	C	NM_024876		41216000	-1	tier1	-	no_errors	ENST00000324464	ensembl	human	known	74_37	missense	30.23	30	13	SNP	1.000	A
ADCY9	115	genome.wustl.edu	37	16	4016561	4016561	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr16:4016561C>A	ENST00000294016.3	-	11	3815	c.3277G>T	c.(3277-3279)Gac>Tac	p.D1093Y		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1093	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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)|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)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGGAGCTCGTCAAAGTCCCCG	0.592																																																	0													100.0	98.0	99.0					16																	4016561		2197	4300	6497	SO:0001583	missense	0			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3277G>T	16.37:g.4016561C>A	ENSP00000294016:p.Asp1093Tyr		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.D1093Y	ENST00000294016.3	37	c.3277	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171086	0.78452	.	.	ENSG00000162104	ENST00000294016	D	0.84070	-1.8	5.52	5.52	0.82312	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.95887	0.8661	H	0.99689	4.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97700	1.0184	10	0.87932	D	0	.	19.7885	0.96447	0.0:1.0:0.0:0.0	.	1093	O60503	ADCY9_HUMAN	Y	1093	ENSP00000294016:D1093Y	ENSP00000294016:D1093Y	D	-	1	0	ADCY9	3956562	1.000000	0.71417	0.358000	0.25811	0.869000	0.49853	7.776000	0.85560	2.752000	0.94435	0.655000	0.94253	GAC	ADCY9	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000162104		0.592	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	-	0.00	66	0	C			4016561	-1	tier1	-	no_errors	ENST00000294016	ensembl	human	known	74_37	missense	24.32	56	18	SNP	1.000	A
ADORA2B	136	genome.wustl.edu	37	17	15878317	15878317	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:15878317C>G	ENST00000304222.2	+	2	992	c.660C>G	c.(658-660)gaC>gaG	p.D220E	ZSWIM7_ENST00000399280.2_5'Flank	NM_000676.2	NP_000667.1	P29275	AA2BR_HUMAN	adenosine A2b receptor	220					activation of adenylate cyclase activity (GO:0007190)|activation of MAPK activity (GO:0000187)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)|JNK cascade (GO:0007254)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to non-antigenic stimulus (GO:0002882)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation vascular endothelial growth factor production (GO:0010575)|relaxation of vascular smooth muscle (GO:0060087)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Adenosine(DB00640)|Defibrotide(DB04932)|Enprofylline(DB00824)|Theophylline(DB00277)	AGCTGATGGACCACTCGAGGA	0.542																																																	0													126.0	95.0	106.0					17																	15878317		2203	4300	6503	SO:0001583	missense	0			M97759	CCDS11173.1	17p12	2012-08-08			ENSG00000170425	ENSG00000170425		"""GPCR / Class A : Adenosine receptors"""	264	protein-coding gene	gene with protein product		600446				7558011	Standard	NM_000676		Approved		uc002gpd.1	P29275	OTTHUMG00000059140	ENST00000304222.2:c.660C>G	17.37:g.15878317C>G	ENSP00000304501:p.Asp220Glu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2B_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt	p.D220E	ENST00000304222.2	37	c.660	CCDS11173.1	17	.	.	.	.	.	.	.	.	.	.	C	3.114	-0.182109	0.06340	.	.	ENSG00000170425	ENST00000304222	T	0.36699	1.24	5.79	1.56	0.23342	GPCR, rhodopsin-like superfamily (1);	0.285222	0.38959	N	0.001510	T	0.21062	0.0507	L	0.39633	1.23	0.30114	N	0.806315	B	0.06786	0.001	B	0.08055	0.003	T	0.36744	-0.9735	10	0.02654	T	1	-9.4174	7.3858	0.26882	0.0:0.6755:0.1212:0.2033	.	220	P29275	AA2BR_HUMAN	E	220	ENSP00000304501:D220E	ENSP00000304501:D220E	D	+	3	2	ADORA2B	15819042	1.000000	0.71417	0.998000	0.56505	0.834000	0.47266	0.849000	0.27723	0.087000	0.17167	-0.251000	0.11542	GAC	ADORA2B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2B_rcpt	ENSG00000170425		0.542	ADORA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA2B	HGNC	protein_coding	OTTHUMT00000131032.1	-	0.00	44	0	C			15878317	+1	tier1	-	no_errors	ENST00000304222	ensembl	human	known	74_37	missense	53.85	12	14	SNP	1.000	G
AIM1	202	genome.wustl.edu	37	6	106967345	106967345	+	Silent	SNP	C	C	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr6:106967345C>G	ENST00000369066.3	+	2	1525	c.1038C>G	c.(1036-1038)acC>acG	p.T346T		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CCAAAGTTACCGTCTCGGAAG	0.438																																																	0													81.0	88.0	86.0					6																	106967345		2203	4300	6503	SO:0001819	synonymous_variant	0			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.1038C>G	6.37:g.106967345C>G			Q6P2P0|Q9BTM3	Silent	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.T346	ENST00000369066.3	37	c.1038	CCDS34506.1	6																																																																																			AIM1	-	NULL	ENSG00000112297		0.438	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1	-	0.00	31	0	C			106967345	+1	tier1	-	no_errors	ENST00000369066	ensembl	human	known	74_37	silent	16.67	20	4	SNP	0.000	G
AKAP6	9472	genome.wustl.edu	37	14	33242894	33242894	+	Missense_Mutation	SNP	G	G	A	rs369391066		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr14:33242894G>A	ENST00000280979.4	+	12	3553	c.3383G>A	c.(3382-3384)cGt>cAt	p.R1128H	AKAP6_ENST00000557272.1_Missense_Mutation_p.R1128H	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1128					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.R1128H(2)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCCCTCTGTCGTGAAATCAAG	0.448																																					Melanoma(49;821 1200 7288 13647 42351)												2	Substitution - Missense(2)	lung(2)						G	HIS/ARG	0,4406		0,0,2203	129.0	122.0	124.0		3383	1.2	0.4	14		124	2,8598	2.2+/-6.3	0,2,4298	no	missense	AKAP6	NM_004274.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	1128/2320	33242894	2,13004	2203	4300	6503	SO:0001583	missense	0			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.3383G>A	14.37:g.33242894G>A	ENSP00000280979:p.Arg1128His		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.R1128H	ENST00000280979.4	37	c.3383	CCDS9644.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.880|0.880	-0.729167|-0.729167	0.03135|0.03135	0.0|0.0	2.33E-4|2.33E-4	ENSG00000151320|ENSG00000151320	ENST00000280979;ENST00000557272|ENST00000554740	T;T|.	0.35789|.	1.29;1.29|.	5.28|5.28	1.25|1.25	0.21368|0.21368	.|.	1.216010|.	0.05439|.	N|.	0.547370|.	T|T	0.34193|0.34193	0.0889|0.0889	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	B|.	0.10296|.	0.003|.	B|.	0.01281|.	0.0|.	T|T	0.25676|0.25676	-1.0125|-1.0125	10|5	0.35671|.	T|.	0.21|.	3.5856|3.5856	7.8217|7.8217	0.29292|0.29292	0.1927:0.3094:0.4979:0.0|0.1927:0.3094:0.4979:0.0	.|.	1128|.	Q13023|.	AKAP6_HUMAN|.	H|M	1128|15	ENSP00000280979:R1128H;ENSP00000451247:R1128H|.	ENSP00000280979:R1128H|.	R|V	+|+	2|1	0|0	AKAP6|AKAP6	32312645|32312645	0.226000|0.226000	0.23696|0.23696	0.422000|0.422000	0.26621|0.26621	0.139000|0.139000	0.21198|0.21198	0.416000|0.416000	0.21198|0.21198	0.297000|0.297000	0.22615|0.22615	-0.216000|-0.216000	0.12614|0.12614	CGT|GTG	AKAP6	-	smart_Spectrin/alpha-actinin	ENSG00000151320		0.448	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2		0.00	40	0	G	NM_004274		33242894	+1			no_errors	ENST00000280979	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.072	A
ALDOC	230	genome.wustl.edu	37	17	26901517	26901517	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:26901517C>G	ENST00000226253.4	-	6	1094	c.619G>C	c.(619-621)Gag>Cag	p.E207Q	PIGS_ENST00000543734.1_5'Flank|ALDOC_ENST00000395321.2_Missense_Mutation_p.E207Q|RP11-192H23.5_ENST00000585189.1_RNA|PIGS_ENST00000308360.7_5'Flank|PIGS_ENST00000395346.2_5'Flank|ALDOC_ENST00000395319.3_Intron	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	207					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					CTCACCTTCTCTGTAACATAC	0.517																																																	0													216.0	192.0	200.0					17																	26901517		2203	4300	6503	SO:0001583	missense	0			AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.619G>C	17.37:g.26901517C>G	ENSP00000226253:p.Glu207Gln		B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Missense_Mutation	SNP	pfam_Aldolase_I	p.E207Q	ENST00000226253.4	37	c.619	CCDS11236.1	17	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534158	0.85812	.	.	ENSG00000109107	ENST00000226253;ENST00000395321	D;D	0.87491	-2.26;-2.26	5.9	5.9	0.94986	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.91938	0.7447	M	0.73962	2.25	0.80722	D	1	P	0.51057	0.941	P	0.54238	0.746	D	0.91761	0.5420	10	0.59425	D	0.04	-9.6147	19.8718	0.96853	0.0:1.0:0.0:0.0	.	207	P09972	ALDOC_HUMAN	Q	207	ENSP00000226253:E207Q;ENSP00000378731:E207Q	ENSP00000226253:E207Q	E	-	1	0	ALDOC	23925644	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.038000	0.70964	2.808000	0.96608	0.650000	0.86243	GAG	ALDOC	-	pfam_Aldolase_I	ENSG00000109107		0.517	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOC	HGNC	protein_coding	OTTHUMT00000255839.4	-	0.00	60	0	C			26901517	-1	tier1	-	no_errors	ENST00000226253	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	G
ANGEL1	23357	genome.wustl.edu	37	14	77270134	77270134	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr14:77270134C>A	ENST00000251089.2	-	6	1614	c.1502G>T	c.(1501-1503)aGa>aTa	p.R501I	ANGEL1_ENST00000557179.1_Missense_Mutation_p.R66I	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	501								p.R501I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CTCACCTGATCTCTTGGGGTG	0.517																																																	1	Substitution - Missense(1)	large_intestine(1)											111.0	113.0	112.0					14																	77270134		2203	4300	6503	SO:0001583	missense	0			AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.1502G>T	14.37:g.77270134C>A	ENSP00000251089:p.Arg501Ile		B4DWL7|O94859|Q8NCS9	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.R501I	ENST00000251089.2	37	c.1502	CCDS9852.1	14	.	.	.	.	.	.	.	.	.	.	C	13.60	2.284643	0.40394	.	.	ENSG00000013523	ENST00000251089;ENST00000557179	T;T	0.48836	1.86;0.8	5.75	3.78	0.43462	Endonuclease/exonuclease/phosphatase (2);	0.257970	0.40385	N	0.001105	T	0.27594	0.0678	N	0.24115	0.695	0.44462	D	0.997393	B	0.06786	0.001	B	0.13407	0.009	T	0.13388	-1.0511	10	0.35671	T	0.21	0.0037	2.6291	0.04939	0.1921:0.5095:0.1859:0.1125	.	501	Q9UNK9	ANGE1_HUMAN	I	501;66	ENSP00000251089:R501I;ENSP00000451534:R66I	ENSP00000251089:R501I	R	-	2	0	ANGEL1	76339887	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.911000	0.28584	1.389000	0.46526	0.655000	0.94253	AGA	ANGEL1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000013523		0.517	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGEL1	HGNC	protein_coding	OTTHUMT00000413712.2		0.00	71	0	C	NM_015305		77270134	-1			no_errors	ENST00000251089	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.905	A
ANKRD30B	374860	genome.wustl.edu	37	18	14852215	14852215	+	Silent	SNP	A	A	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr18:14852215A>G	ENST00000358984.4	+	36	4095	c.3915A>G	c.(3913-3915)caA>caG	p.Q1305Q		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1305										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AATTATTTCAACTAGAAAGCA	0.348																																																	0													65.0	51.0	56.0					18																	14852215		692	1590	2282	SO:0001819	synonymous_variant	0			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3915A>G	18.37:g.14852215A>G			B4DGP1|F8WAG3|Q4G175	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q1305	ENST00000358984.4	37	c.3915	CCDS54182.1	18																																																																																			ANKRD30B	-	NULL	ENSG00000180777		0.348	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	-	0.00	76	0	A	NM_001145029		14852215	+1	tier1	-	no_errors	ENST00000358984	ensembl	human	known	74_37	silent	25.00	54	18	SNP	0.828	G
ARHGAP12	94134	genome.wustl.edu	37	10	32101634	32101634	+	Splice_Site	SNP	C	C	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr10:32101634C>A	ENST00000344936.2	-	15	2186		c.e15+1		ARHGAP12_ENST00000311380.4_Splice_Site|ARHGAP12_ENST00000375245.4_Splice_Site|ARHGAP12_ENST00000396144.4_Splice_Site|ARHGAP12_ENST00000492028.1_Splice_Site|ARHGAP12_ENST00000375250.5_Splice_Site	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12						morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CTCCTACCAACCTTTAATATA	0.299																																																	0													114.0	115.0	115.0					10																	32101634		2203	4300	6503	SO:0001630	splice_region_variant	0			AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1951+1G>T	10.37:g.32101634C>A			B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Splice_Site	SNP	-	e13+1	ENST00000344936.2	37	c.1951+1	CCDS7170.1	10	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515029	0.85389	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7278	0.96172	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGAP12	32141640	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.749000	0.85096	2.656000	0.90262	0.591000	0.81541	.	ARHGAP12	-	-	ENSG00000165322		0.299	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	ARHGAP12	HGNC	protein_coding	OTTHUMT00000047465.1	-	0.00	158	0	C		Intron	32101634	-1	tier1	-	no_errors	ENST00000344936	ensembl	human	known	74_37	splice_site	30.51	82	36	SNP	1.000	A
ARSA	410	genome.wustl.edu	37	22	51065088	51065088	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr22:51065088G>T	ENST00000547307.1	-	4	1184	c.779C>A	c.(778-780)aCc>aAc	p.T260N	ARSA_ENST00000395619.3_Missense_Mutation_p.T262N|ARSA_ENST00000356098.5_Missense_Mutation_p.T262N|ARSA_ENST00000453344.2_Missense_Mutation_p.T176N|ARSA_ENST00000216124.5_Missense_Mutation_p.T262N|ARSA_ENST00000547805.1_Missense_Mutation_p.T260N|ARSA_ENST00000395621.3_Missense_Mutation_p.T262N			P15289	ARSA_HUMAN	arylsulfatase A	260					autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	TGTCATCAGGGTCCCCACAGC	0.617																																																	0													49.0	48.0	49.0					22																	51065088		2203	4300	6503	SO:0001583	missense	0			X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"""Arylsulfatase family"""	713	protein-coding gene	gene with protein product	"""metachromatic leucodystrophy"""	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.779C>A	22.37:g.51065088G>T	ENSP00000448440:p.Thr260Asn		B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.T262N	ENST00000547307.1	37	c.785		22	.	.	.	.	.	.	.	.	.	.	G	9.609	1.130728	0.21041	.	.	ENSG00000100299	ENST00000356098;ENST00000216124;ENST00000547307;ENST00000547805;ENST00000395621;ENST00000453344;ENST00000395619	D;D;D;D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95	5.25	5.25	0.73442	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.523804	0.22451	N	0.059899	D	0.93884	0.8043	N	0.11201	0.11	0.25785	N	0.984688	B	0.06786	0.001	B	0.06405	0.002	D	0.87693	0.2555	10	0.54805	T	0.06	.	11.443	0.50107	0.0:0.0:0.8199:0.1801	.	260	P15289	ARSA_HUMAN	N	262;262;260;260;262;176;262	ENSP00000348406:T262N;ENSP00000216124:T262N;ENSP00000448440:T260N;ENSP00000448932:T260N;ENSP00000378983:T262N;ENSP00000412542:T176N;ENSP00000378981:T262N	ENSP00000216124:T262N	T	-	2	0	ARSA	49411954	0.972000	0.33761	1.000000	0.80357	0.432000	0.31715	2.952000	0.49097	2.469000	0.83416	0.407000	0.27541	ACC	ARSA	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000100299		0.617	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	ARSA	HGNC	protein_coding		-	0.00	46	0	G	NM_000487		51065088	-1	tier1	-	no_errors	ENST00000216124	ensembl	human	known	74_37	missense	38.46	24	15	SNP	0.999	T
ATP8B3	148229	genome.wustl.edu	37	19	1785628	1785628	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr19:1785628A>G	ENST00000310127.6	-	26	3471	c.3233T>C	c.(3232-3234)gTc>gCc	p.V1078A	ATP8B3_ENST00000525591.1_Missense_Mutation_p.V1041A|ATP8B3_ENST00000539485.1_Missense_Mutation_p.V1088A	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1078					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		TTGGACGAAGACCCAGTAGTT	0.607																																																	0													39.0	46.0	44.0					19																	1785628		2140	4252	6392	SO:0001583	missense	0			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3233T>C	19.37:g.1785628A>G	ENSP00000311336:p.Val1078Ala		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.V1088A	ENST00000310127.6	37	c.3263	CCDS45901.1	19	.	.	.	.	.	.	.	.	.	.	A	7.106	0.575129	0.13623	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.70164	-0.46;-0.46;-0.46	4.48	4.48	0.54585	.	0.812302	0.11284	N	0.580015	T	0.56108	0.1963	L	0.50847	1.595	0.09310	N	1	P;P	0.46395	0.824;0.877	B;B	0.40741	0.183;0.339	T	0.42103	-0.9471	10	0.10636	T	0.68	.	7.833	0.29353	0.905:0.0:0.095:0.0	.	1078;1041	O60423;Q7Z485	AT8B3_HUMAN;.	A	1078;1088;1041	ENSP00000311336:V1078A;ENSP00000443574:V1088A;ENSP00000437115:V1041A	ENSP00000311336:V1078A	V	-	2	0	ATP8B3	1736628	0.003000	0.15002	0.905000	0.35620	0.810000	0.45777	1.826000	0.39092	1.648000	0.50643	0.533000	0.62120	GTC	ATP8B3	-	NULL	ENSG00000130270		0.607	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ATP8B3	HGNC	protein_coding	OTTHUMT00000388279.1	-	0.00	69	0	A	NM_138813		1785628	-1	tier1	-	no_errors	ENST00000539485	ensembl	human	known	74_37	missense	44.44	20	16	SNP	0.067	G
ATP9B	374868	genome.wustl.edu	37	18	76886355	76886355	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr18:76886355A>G	ENST00000426216.2	+	5	664	c.647A>G	c.(646-648)tAt>tGt	p.Y216C	ATP9B_ENST00000591464.1_3'UTR|ATP9B_ENST00000307671.7_Missense_Mutation_p.Y216C	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	216					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TCACAACTATATAGCAAGCTT	0.358																																																	0													148.0	122.0	130.0					18																	76886355		2203	4300	6503	SO:0001583	missense	0			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.647A>G	18.37:g.76886355A>G	ENSP00000398076:p.Tyr216Cys		O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.Y216C	ENST00000426216.2	37	c.647	CCDS12014.1	18	.	.	.	.	.	.	.	.	.	.	A	17.23	3.337026	0.60963	.	.	ENSG00000166377	ENST00000542323;ENST00000426216;ENST00000307671	T;T	0.60040	0.22;0.22	5.42	5.42	0.78866	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.114937	0.64402	D	0.000009	T	0.61578	0.2358	M	0.75777	2.31	0.80722	D	1	P;P	0.40909	0.732;0.686	B;B	0.40477	0.33;0.222	T	0.68100	-0.5498	10	0.66056	D	0.02	.	15.4048	0.74868	1.0:0.0:0.0:0.0	.	216;216	O43861;O43861-2	ATP9B_HUMAN;.	C	139;216;216	ENSP00000398076:Y216C;ENSP00000304500:Y216C	ENSP00000304500:Y216C	Y	+	2	0	ATP9B	74987343	1.000000	0.71417	0.848000	0.33437	0.586000	0.36452	8.076000	0.89503	2.182000	0.69389	0.482000	0.46254	TAT	ATP9B	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000166377		0.358	ATP9B-001	KNOWN	basic|CCDS	protein_coding	ATP9B	HGNC	protein_coding	OTTHUMT00000256402.3	-	0.00	78	0	A	NM_198531		76886355	+1	tier1	-	no_errors	ENST00000426216	ensembl	human	known	74_37	missense	30.77	45	20	SNP	1.000	G
BMPR1A	657	genome.wustl.edu	37	10	88635670	88635670	+	5'UTR	SNP	C	C	A	rs531097871	byFrequency	TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr10:88635670C>A	ENST00000372037.3	+	0	432				BMPR1A_ENST00000480152.1_3'UTR	NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA						BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						CAAGTGCTTGCGATCTTTTAC	0.328			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												Ovarian(190;603 2086 22044 30335 47971)		yes	Rec		Juvenile polyposis	10	10q22.3	657	"""bone morphogenetic protein receptor, type IA"""		E	0																																										SO:0001623	5_prime_UTR_variant	0	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"""CD molecules"""	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.-106C>A	10.37:g.88635670C>A			A8K6U9|Q8NEN8	RNA	SNP	-	NULL	ENST00000372037.3	37	NULL	CCDS7378.1	10																																																																																			BMPR1A	-	-	ENSG00000107779		0.328	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR1A	HGNC	protein_coding	OTTHUMT00000049170.3	-	0.00	22	0	C	NM_004329		88635670	+1	tier1	-	no_errors	ENST00000480152	ensembl	human	known	74_37	rna	35.29	11	6	SNP	0.000	A
C17orf59	54785	genome.wustl.edu	37	17	8092521	8092521	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:8092521A>G	ENST00000389017.4	-	1	1043	c.938T>C	c.(937-939)aTg>aCg	p.M313T	MIR3676_ENST00000579470.1_RNA	NM_017622.2	NP_060092.2	Q96GS4	CQ059_HUMAN	chromosome 17 open reading frame 59	313								p.M179T(1)		large_intestine(2)|lung(3)|urinary_tract(1)	6						CTTGATGCTCATGTCCACGGC	0.667																																																	1	Substitution - Missense(1)	large_intestine(1)											77.0	69.0	72.0					17																	8092521		2203	4300	6503	SO:0001583	missense	0			BC018880	CCDS11133.2	17p13.1	2005-12-16			ENSG00000196544	ENSG00000196544			25939	protein-coding gene	gene with protein product						12477932	Standard	NM_017622		Approved	FLJ20014	uc010vut.2	Q96GS4	OTTHUMG00000153930	ENST00000389017.4:c.938T>C	17.37:g.8092521A>G	ENSP00000373669:p.Met313Thr		Q53HS4|Q9NXW8	Missense_Mutation	SNP	pfam_DUF2365	p.M313T	ENST00000389017.4	37	c.938	CCDS11133.2	17	.	.	.	.	.	.	.	.	.	.	A	18.68	3.676223	0.67928	.	.	ENSG00000196544	ENST00000389017	.	.	.	5.49	5.49	0.81192	.	0.045949	0.85682	D	0.000000	T	0.63153	0.2487	L	0.36672	1.1	0.52501	D	0.999956	D	0.69078	0.997	D	0.67725	0.953	T	0.59380	-0.7465	9	0.25106	T	0.35	-18.2423	11.972	0.53069	1.0:0.0:0.0:0.0	.	313	Q96GS4	CQ059_HUMAN	T	313	.	ENSP00000373669:M313T	M	-	2	0	C17orf59	8033246	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.435000	0.90297	2.086000	0.62901	0.459000	0.35465	ATG	C17orf59	-	pfam_DUF2365	ENSG00000196544		0.667	C17orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf59	HGNC	protein_coding	OTTHUMT00000333072.1		0.00	49	0	A	NM_017622		8092521	-1			no_errors	ENST00000389017	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	G
MCEMP1	199675	genome.wustl.edu	37	19	7742575	7742575	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr19:7742575C>G	ENST00000333598.3	+	2	601	c.147C>G	c.(145-147)gaC>gaG	p.D49E	CTD-3214H19.16_ENST00000597959.1_5'Flank|C19orf59_ENST00000597445.1_Intron	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN		49						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						AAAATCAGGACCATGCAAAGG	0.572											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													89.0	71.0	77.0					19																	7742575		2203	4300	6503	SO:0001583	missense	0																														ENST00000333598.3:c.147C>G	19.37:g.7742575C>G	ENSP00000329920:p.Asp49Glu	644	Q8IX20	Missense_Mutation	SNP	NULL	p.D49E	ENST00000333598.3	37	c.147	CCDS12183.1	19	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422513	0.25639	.	.	ENSG00000183019	ENST00000333598	T	0.25250	1.81	4.21	0.73	0.18271	.	0.778587	0.10936	N	0.617771	T	0.19167	0.0460	L	0.32530	0.975	0.09310	N	1	B	0.31459	0.324	B	0.34722	0.188	T	0.29088	-1.0023	10	0.66056	D	0.02	-6.6757	5.6135	0.17418	0.0:0.4854:0.4029:0.1117	.	49	Q8IX19	MCEM1_HUMAN	E	49	ENSP00000329920:D49E	ENSP00000329920:D49E	D	+	3	2	C19orf59	7648575	0.000000	0.05858	0.003000	0.11579	0.084000	0.17831	-0.354000	0.07681	0.429000	0.26202	0.561000	0.74099	GAC	C19orf59	-	NULL	ENSG00000183019		0.572	C19orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf59	HGNC	protein_coding	OTTHUMT00000461248.1		0.00	54	0	C			7742575	+1			no_errors	ENST00000333598	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.001	G
ZBED8	63920	genome.wustl.edu	37	5	159821723	159821723	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr5:159821723C>T	ENST00000408953.3	-	2	1282	c.775G>A	c.(775-777)Gtg>Atg	p.V259M	C5orf54_ENST00000523213.1_Missense_Mutation_p.V259M	NM_022090.3	NP_071373.2														breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						tcttttttcacgtaggcaaca	0.398																																																	0													135.0	129.0	131.0					5																	159821723		2203	4300	6503	SO:0001583	missense	0																														ENST00000408953.3:c.775G>A	5.37:g.159821723C>T	ENSP00000386184:p.Val259Met			Missense_Mutation	SNP	superfamily_RNaseH-like_dom	p.V259M	ENST00000408953.3	37	c.775	CCDS34283.1	5	.	.	.	.	.	.	.	.	.	.	C	9.006	0.981222	0.18812	.	.	ENSG00000221886	ENST00000408953;ENST00000523213	T;T	0.14516	2.5;2.5	2.84	-1.02	0.10135	.	.	.	.	.	T	0.07052	0.0179	N	0.13098	0.295	0.26293	N	0.978092	B	0.19200	0.034	B	0.14578	0.011	T	0.35375	-0.9791	9	0.39692	T	0.17	.	6.1475	0.20293	0.0:0.4657:0.0:0.5343	.	259	Q8IZ13	CE054_HUMAN	M	259	ENSP00000386184:V259M;ENSP00000428831:V259M	ENSP00000386184:V259M	V	-	1	0	C5orf54	159754301	0.144000	0.22641	0.938000	0.37757	0.958000	0.62258	0.012000	0.13287	-0.276000	0.09206	0.655000	0.94253	GTG	C5orf54	-	superfamily_RNaseH-like_dom	ENSG00000221886		0.398	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf54	HGNC	protein_coding	OTTHUMT00000374143.1	-	0.00	54	0	C			159821723	-1	tier1	-	no_errors	ENST00000408953	ensembl	human	known	74_37	missense	41.18	10	7	SNP	0.947	T
CACNA1C	775	genome.wustl.edu	37	12	2786183	2786184	+	Intron	INS	-	-	A	rs372244578		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr12:2786183_2786184insA	ENST00000347598.4	+	42	4972				CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000327702.7_Intron	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit						adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTTGGATGCTGAAAAAAAAAAT	0.376																																																	0																																										SO:0001627	intron_variant	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4973-76->A	12.37:g.2786193_2786193dupA			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	RNA	INS	-	NULL	ENST00000347598.4	37	NULL	CCDS44788.1	12																																																																																			CACNA1C-AS1	-	-	ENSG00000246627		0.376	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C-AS1	HGNC	protein_coding	OTTHUMT00000317035.1		0.00	23	0	-	NM_000719		2786184	-1	tier1		no_errors	ENST00000501371	ensembl	human	known	74_37	rna	8.82	31	3	INS	0.733:0.778	A
CDH7	1005	genome.wustl.edu	37	18	63525173	63525173	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr18:63525173C>T	ENST00000397968.2	+	8	1783	c.1357C>T	c.(1357-1359)Ctt>Ttt	p.L453F	CDH7_ENST00000323011.3_Missense_Mutation_p.L453F|CDH7_ENST00000536984.2_Missense_Mutation_p.L453F	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	453	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L453F(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TATCACAGTCCTTGCAATGGA	0.403																																																	2	Substitution - Missense(2)	NS(2)											120.0	105.0	110.0					18																	63525173		2203	4300	6503	SO:0001583	missense	0			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1357C>T	18.37:g.63525173C>T	ENSP00000381058:p.Leu453Phe		Q9H157	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L453F	ENST00000397968.2	37	c.1357	CCDS11993.1	18	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215939	0.39201	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.62498	0.02;0.02;0.02	4.64	4.64	0.57946	Cadherin (4);Cadherin-like (1);	0.079718	0.51477	D	0.000096	T	0.49440	0.1557	L	0.45051	1.395	0.80722	D	1	B;B	0.19445	0.007;0.036	B;B	0.21917	0.029;0.037	T	0.48658	-0.9016	10	0.36615	T	0.2	.	5.7676	0.18235	0.0:0.7658:0.0:0.2342	.	453;453	F5H5X9;Q9ULB5	.;CADH7_HUMAN	F	453	ENSP00000319166:L453F;ENSP00000443030:L453F;ENSP00000381058:L453F	ENSP00000319166:L453F	L	+	1	0	CDH7	61676153	1.000000	0.71417	0.999000	0.59377	0.887000	0.51463	2.373000	0.44266	2.576000	0.86940	0.555000	0.69702	CTT	CDH7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000081138		0.403	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	HGNC	protein_coding	OTTHUMT00000256217.2	-	0.00	91	0	C	NM_033646		63525173	+1	tier1	-	no_errors	ENST00000323011	ensembl	human	known	74_37	missense	28.28	71	28	SNP	1.000	T
CDK5RAP3	80279	genome.wustl.edu	37	17	46054139	46054139	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:46054139C>T	ENST00000338399.4	+	9	966	c.860C>T	c.(859-861)gCc>gTc	p.A287V	RP11-6N17.9_ENST00000582262.1_RNA|CDK5RAP3_ENST00000536708.2_Missense_Mutation_p.A312V	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	287					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)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						GGCATCTCTGCCGAGGCTGCT	0.522																																																	0													68.0	67.0	67.0					17																	46054139		1935	4149	6084	SO:0001583	missense	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.860C>T	17.37:g.46054139C>T	ENSP00000344683:p.Ala287Val		B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Missense_Mutation	SNP	pfam_DUF773	p.A287V	ENST00000338399.4	37	c.860	CCDS42356.1	17	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842489	0.32513	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	T;T	0.37411	1.2;1.2	5.97	5.97	0.96955	.	0.175720	0.49916	D	0.000122	T	0.16938	0.0407	N	0.04787	-0.16	0.40469	D	0.980323	B;B;B;B	0.13145	0.005;0.001;0.007;0.002	B;B;B;B	0.10450	0.004;0.003;0.005;0.004	T	0.20806	-1.0264	10	0.21014	T	0.42	-11.3532	8.1076	0.30896	0.1591:0.7622:0.0:0.0786	.	312;200;287;62	F5H3I5;Q96JB5-2;Q96JB5;Q96JB5-3	.;.;CK5P3_HUMAN;.	V	312;287	ENSP00000438886:A312V;ENSP00000344683:A287V	ENSP00000344683:A287V	A	+	2	0	CDK5RAP3	43409138	0.849000	0.29639	0.942000	0.38095	0.470000	0.32858	1.404000	0.34623	2.831000	0.97527	0.655000	0.94253	GCC	CDK5RAP3	-	pfam_DUF773	ENSG00000108465		0.522	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5RAP3	HGNC	protein_coding	OTTHUMT00000442913.1		0.00	66	0	C	NM_176096		46054139	+1			no_errors	ENST00000338399	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.817	T
CDKN2C	1031	genome.wustl.edu	37	1	51439776	51439776	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:51439776G>A	ENST00000262662.1	+	4	2375	c.341G>A	c.(340-342)gGc>gAc	p.G114D	CDKN2C_ENST00000371761.3_Missense_Mutation_p.G114D|CDKN2C_ENST00000396148.1_Missense_Mutation_p.G114D			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	114					cell cycle arrest (GO:0007050)|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 phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|oligodendrocyte differentiation (GO:0048709)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		GCCAAAGAAGGCCACCTCCGG	0.542			D		"""glioma, MM"""																																Melanoma(47;50 1155 4767 22863 47597)			Rec	yes		1	1p32	1031	"""cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)"""		"""O, L"""	12	Whole gene deletion(11)|Unknown(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(5)|thyroid(1)											68.0	66.0	67.0					1																	51439776		2203	4300	6503	SO:0001583	missense	0			BC000598	CCDS555.1	1p32.3	2013-01-10			ENSG00000123080	ENSG00000123080		"""Ankyrin repeat domain containing"""	1789	protein-coding gene	gene with protein product		603369				8001816, 9636670	Standard	NM_001262		Approved	INK4C, p18	uc001csg.3	P42773	OTTHUMG00000008046	ENST00000262662.1:c.341G>A	1.37:g.51439776G>A	ENSP00000262662:p.Gly114Asp		Q8TB83	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G114D	ENST00000262662.1	37	c.341	CCDS555.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.062408	0.93898	.	.	ENSG00000123080	ENST00000262662;ENST00000396148;ENST00000371761	T;T;T	0.70986	-0.53;-0.53;-0.53	5.83	5.83	0.93111	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.85261	0.5656	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84375	0.0546	10	0.48119	T	0.1	-7.3114	20.1338	0.98010	0.0:0.0:1.0:0.0	.	114	P42773	CDN2C_HUMAN	D	114	ENSP00000262662:G114D;ENSP00000379452:G114D;ENSP00000360826:G114D	ENSP00000262662:G114D	G	+	2	0	CDKN2C	51212364	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.507000	0.90522	2.770000	0.95276	0.655000	0.94253	GGC	CDKN2C	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000123080		0.542	CDKN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN2C	HGNC	protein_coding	OTTHUMT00000022058.1		0.00	83	0	G	NM_001262		51439776	+1			no_errors	ENST00000262662	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	A
CFTR	1080	genome.wustl.edu	37	7	117267663	117267664	+	Frame_Shift_Ins	INS	-	-	AA	rs397508582		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr7:117267663_117267664insAA	ENST00000003084.6	+	22	3688_3689	c.3556_3557insAA	c.(3556-3558)caafs	p.Q1186fs	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Frame_Shift_Ins_p.Q1125fs	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1186					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CAAGAATGGCCAACTCTCGAAA	0.411									Cystic Fibrosis																																								0			GRCh37	CM962480	CFTR	M																																				SO:0001589	frameshift_variant	0	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3557_3558dupAA	7.37:g.117267664_117267665dupAA	ENSP00000003084:p.Gln1186fs		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Frame_Shift_Ins	INS	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.L1187fs	ENST00000003084.6	37	c.3556_3557	CCDS5773.1	7																																																																																			CFTR	-	tigrfam_cAMP_cl_channel	ENSG00000001626		0.411	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3		0.00	74	0	-	NM_000492		117267664	+1	tier1		no_errors	ENST00000003084	ensembl	human	known	74_37	frame_shift_ins	14.29	48	8	INS	0.187:0.173	AA
CHD1	1105	genome.wustl.edu	37	5	98223851	98223851	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr5:98223851T>C	ENST00000284049.3	-	16	2586	c.2437A>G	c.(2437-2439)Atg>Gtg	p.M813V	RNU6-402P_ENST00000410678.1_RNA	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	813	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ATCCGCACCATTTGTGAAAAA	0.318																																																	0													80.0	80.0	80.0					5																	98223851		2202	4298	6500	SO:0001583	missense	0			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.2437A>G	5.37:g.98223851T>C	ENSP00000284049:p.Met813Val		Q17RZ3	Missense_Mutation	SNP	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.M813V	ENST00000284049.3	37	c.2437	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	T	20.7	4.038612	0.75617	.	.	ENSG00000153922	ENST00000284049	T	0.75367	-0.93	5.11	5.11	0.69529	Helicase, C-terminal (1);	0.000000	0.40469	U	0.001094	D	0.87892	0.6292	M	0.89030	3	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.90374	0.4383	10	0.87932	D	0	.	14.9145	0.70785	0.0:0.0:0.0:1.0	.	813	O14646	CHD1_HUMAN	V	813	ENSP00000284049:M813V	ENSP00000284049:M813V	M	-	1	0	CHD1	98251751	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	8.013000	0.88655	1.929000	0.55896	0.383000	0.25322	ATG	CHD1	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000153922		0.318	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	-	0.00	115	0	T	NM_001270		98223851	-1	tier1	-	no_errors	ENST00000284049	ensembl	human	known	74_37	missense	48.53	35	33	SNP	1.000	C
CMKLR1	1240	genome.wustl.edu	37	12	108686629	108686629	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr12:108686629C>A	ENST00000312143.7	-	3	474	c.111G>T	c.(109-111)agG>agT	p.R37S	CMKLR1_ENST00000412676.1_Missense_Mutation_p.R37S|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R35S|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R35S|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R37S	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	37					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TCCTGGTCACCCTGGCTTCCA	0.478																																																	0													74.0	72.0	72.0					12																	108686629		1955	4156	6111	SO:0001583	missense	0			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.111G>T	12.37:g.108686629C>A	ENSP00000311733:p.Arg37Ser		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt	p.R37S	ENST00000312143.7	37	c.111	CCDS44965.1	12	.	.	.	.	.	.	.	.	.	.	C	1.301	-0.604973	0.03717	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402;ENST00000550573;ENST00000549466	T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.12	2.05	0.26809	.	1.065040	0.07272	N	0.869364	T	0.25644	0.0624	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32428	-0.9907	10	0.08599	T	0.76	.	4.4083	0.11420	0.0:0.4198:0.3315:0.2487	.	37	Q99788	CML1_HUMAN	S	37;37;35;35;37;37;37	ENSP00000311733:R37S;ENSP00000401293:R37S;ENSP00000380803:R35S;ENSP00000447579:R35S;ENSP00000449716:R37S;ENSP00000448925:R37S;ENSP00000448362:R37S	ENSP00000311733:R37S	R	-	3	2	CMKLR1	107210759	0.000000	0.05858	0.014000	0.15608	0.042000	0.13812	-0.642000	0.05427	0.535000	0.28714	0.561000	0.74099	AGG	CMKLR1	-	prints_DEZorph_rcpt	ENSG00000174600		0.478	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMKLR1	HGNC	protein_coding	OTTHUMT00000404867.1	-	0.00	50	0	C			108686629	-1	tier1	-	no_errors	ENST00000312143	ensembl	human	known	74_37	missense	21.95	32	9	SNP	0.015	A
COG1	9382	genome.wustl.edu	37	17	71189323	71189323	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:71189323G>T	ENST00000299886.4	+	1	195	c.115G>T	c.(115-117)Gcc>Tcc	p.A39S	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	39					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CCAGGTTCGGGCCGAGATCGA	0.677																																																	0													27.0	29.0	28.0					17																	71189323		2197	4297	6494	SO:0001583	missense	0				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.115G>T	17.37:g.71189323G>T	ENSP00000299886:p.Ala39Ser		Q9NPV9|Q9P2G6	Missense_Mutation	SNP	NULL	p.A39S	ENST00000299886.4	37	c.115	CCDS11692.1	17	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633043	0.67015	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.21191	2.02;2.02	3.64	3.64	0.41730	.	0.063646	0.64402	D	0.000006	T	0.24967	0.0606	N	0.24115	0.695	0.58432	D	0.999997	D;P;D	0.58268	0.982;0.93;0.982	P;P;P	0.60236	0.871;0.634;0.871	T	0.02202	-1.1196	10	0.09084	T	0.74	-15.7417	15.8481	0.78907	0.0:0.0:1.0:0.0	.	39;39;39	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	S	39	ENSP00000400111:A39S;ENSP00000299886:A39S	ENSP00000299886:A39S	A	+	1	0	COG1	68700918	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	8.427000	0.90275	2.015000	0.59207	0.484000	0.47621	GCC	COG1	-	NULL	ENSG00000166685		0.677	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG1	HGNC	protein_coding	OTTHUMT00000441638.1	-	0.00	56	0	G			71189323	+1	tier1	-	no_errors	ENST00000299886	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T
COL6A3	1293	genome.wustl.edu	37	2	238259800	238259800	+	Silent	SNP	T	T	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr2:238259800T>A	ENST00000295550.4	-	27	7241	c.6789A>T	c.(6787-6789)cgA>cgT	p.R2263R	COL6A3_ENST00000353578.4_Silent_p.R2057R|COL6A3_ENST00000472056.1_Silent_p.R1656R|COL6A3_ENST00000409809.1_Silent_p.R2057R|COL6A3_ENST00000346358.4_Silent_p.R2063R|COL6A3_ENST00000347401.3_Silent_p.R2062R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2263	Collagen-like 4.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGGTTCTGCCTCGTTCTCCAG	0.572																																																	0													114.0	91.0	99.0					2																	238259800		2203	4300	6503	SO:0001819	synonymous_variant	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6789A>T	2.37:g.238259800T>A			A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.R2263	ENST00000295550.4	37	c.6789	CCDS33412.1	2																																																																																			COL6A3	-	NULL	ENSG00000163359		0.572	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2		0.00	56	0	T	NM_004369		238259800	-1			no_errors	ENST00000295550	ensembl	human	known	74_37	silent	9.68	28	3	SNP	0.352	A
COL6A6	131873	genome.wustl.edu	37	3	130293213	130293213	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr3:130293213G>A	ENST00000358511.6	+	7	3422	c.3391G>A	c.(3391-3393)Gac>Aac	p.D1131N	COL6A6_ENST00000453409.2_Missense_Mutation_p.D1131N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1131	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAGAGGTATCGACATCTACTC	0.547																																																	0													77.0	85.0	82.0					3																	130293213		2021	4180	6201	SO:0001583	missense	0			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3391G>A	3.37:g.130293213G>A	ENSP00000351310:p.Asp1131Asn		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.D1131N	ENST00000358511.6	37	c.3391	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	G	1.547	-0.540171	0.04053	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.82803	-1.65;-1.65	5.28	0.274	0.15654	von Willebrand factor, type A (3);	0.514908	0.19046	N	0.124169	T	0.59945	0.2231	N	0.04686	-0.185	0.23754	N	0.996932	B	0.14012	0.009	B	0.10450	0.005	T	0.45396	-0.9264	10	0.18710	T	0.47	.	7.1637	0.25679	0.1941:0.2254:0.5804:0.0	.	1131	A6NMZ7	CO6A6_HUMAN	N	1131	ENSP00000351310:D1131N;ENSP00000399236:D1131N	ENSP00000351310:D1131N	D	+	1	0	COL6A6	131775903	0.064000	0.20934	0.015000	0.15790	0.078000	0.17371	0.323000	0.19593	-0.163000	0.10946	0.655000	0.94253	GAC	COL6A6	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000206384		0.547	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	-	0.00	44	0	G	NM_001102608		130293213	+1	tier1	-	no_errors	ENST00000358511	ensembl	human	known	74_37	missense	8.62	53	5	SNP	0.471	A
CPD	1362	genome.wustl.edu	37	17	28783319	28783319	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:28783319A>G	ENST00000225719.4	+	16	3459	c.3383A>G	c.(3382-3384)aAt>aGt	p.N1128S	CPD_ENST00000584051.1_3'UTR|CPD_ENST00000543464.2_Missense_Mutation_p.N881S	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1128	Carboxypeptidase-like 3.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CTTTATGCAAATAATCATCCA	0.363																																																	0													76.0	69.0	71.0					17																	28783319		2203	4300	6503	SO:0001583	missense	0			U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.3383A>G	17.37:g.28783319A>G	ENSP00000225719:p.Asn1128Ser		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.N1128S	ENST00000225719.4	37	c.3383	CCDS11257.1	17	.	.	.	.	.	.	.	.	.	.	A	13.15	2.152029	0.38021	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.03152	4.03;4.03	5.05	3.97	0.46021	Peptidase M14, carboxypeptidase A (2);	0.180038	0.45867	N	0.000325	T	0.02193	0.0068	N	0.13198	0.31	0.43896	D	0.99652	B;B	0.14805	0.0;0.011	B;B	0.19666	0.001;0.026	T	0.36040	-0.9764	10	0.02654	T	1	.	9.9411	0.41580	0.92:0.0:0.08:0.0	.	881;1128	F5GZH6;O75976	.;CBPD_HUMAN	S	1128;881	ENSP00000225719:N1128S;ENSP00000444443:N881S	ENSP00000225719:N1128S	N	+	2	0	CPD	25807445	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.348000	0.52209	0.782000	0.33613	0.533000	0.62120	AAT	CPD	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000108582		0.363	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPD	HGNC	protein_coding	OTTHUMT00000256214.3	-	0.00	53	0	A	NM_001304		28783319	+1	tier1	-	no_errors	ENST00000225719	ensembl	human	known	74_37	missense	81.63	9	40	SNP	1.000	G
CSMD3	114788	genome.wustl.edu	37	8	114031351	114031351	+	Silent	SNP	C	C	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr8:114031351C>T	ENST00000297405.5	-	6	1219	c.975G>A	c.(973-975)ctG>ctA	p.L325L	CSMD3_ENST00000455883.2_Silent_p.L325L|CSMD3_ENST00000343508.3_Silent_p.L285L|CSMD3_ENST00000352409.3_Silent_p.L325L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	325	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAACAAAATGCAGTCTGAGCC	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													219.0	199.0	206.0					8																	114031351		2203	4300	6503	SO:0001819	synonymous_variant	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.975G>A	8.37:g.114031351C>T			Q96PZ3	Silent	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.L325	ENST00000297405.5	37	c.975	CCDS6315.1	8																																																																																			CSMD3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0.00	59	0	C	NM_052900		114031351	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	silent	8.16	45	4	SNP	1.000	T
CSRNP2	81566	genome.wustl.edu	37	12	51458091	51458091	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr12:51458091C>A	ENST00000228515.1	-	5	1367	c.1070G>T	c.(1069-1071)gGt>gTt	p.G357V		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	357					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|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)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GATGCACACACCCAGGCTCTC	0.617																																																	0													57.0	62.0	60.0					12																	51458091		2203	4300	6503	SO:0001583	missense	0			AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16006	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 72"""		"""chromosome 12 open reading frame 22"", ""family with sequence similarity 130, member A1"""	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.1070G>T	12.37:g.51458091C>A	ENSP00000228515:p.Gly357Val			Missense_Mutation	SNP	prints_Cys/Ser-rich_nuc_prot	p.G357V	ENST00000228515.1	37	c.1070	CCDS8807.1	12	.	.	.	.	.	.	.	.	.	.	C	16.01	3.002719	0.54254	.	.	ENSG00000110925	ENST00000228515	T	0.44881	0.91	5.08	5.08	0.68730	.	0.225469	0.37715	N	0.001964	T	0.25121	0.0610	N	0.14661	0.345	0.52501	D	0.999958	P	0.42518	0.782	B	0.37304	0.246	T	0.05716	-1.0868	10	0.46703	T	0.11	-23.1638	11.1814	0.48631	0.0:0.9132:0.0:0.0868	.	357	Q9H175	CSRN2_HUMAN	V	357	ENSP00000228515:G357V	ENSP00000228515:G357V	G	-	2	0	CSRNP2	49744358	0.949000	0.32298	0.987000	0.45799	0.925000	0.55904	2.100000	0.41777	2.531000	0.85337	0.484000	0.47621	GGT	CSRNP2	-	NULL	ENSG00000110925		0.617	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP2	HGNC	protein_coding	OTTHUMT00000404893.1	-	0.00	44	0	C			51458091	-1	tier1	-	no_errors	ENST00000228515	ensembl	human	known	74_37	missense	20.00	32	8	SNP	0.946	A
CYP2F1	1572	genome.wustl.edu	37	19	41626275	41626275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr19:41626275C>T	ENST00000331105.2	+	4	430	c.358C>T	c.(358-360)Cga>Tga	p.R120*		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	120					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.R120*(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CAGTGGGGATCGATGGAAGGT	0.562																																																	1	Substitution - Nonsense(1)	large_intestine(1)											97.0	92.0	94.0					19																	41626275		2203	4300	6503	SO:0001587	stop_gained	0			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.358C>T	19.37:g.41626275C>T	ENSP00000333534:p.Arg120*		A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Nonsense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R120*	ENST00000331105.2	37	c.358	CCDS12572.1	19	.	.	.	.	.	.	.	.	.	.	C	13.18	2.158827	0.38119	.	.	ENSG00000197446	ENST00000331105	.	.	.	4.25	0.388	0.16264	.	0.214943	0.38058	U	0.001821	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.2291	0.03992	0.3239:0.2949:0.2842:0.0969	.	.	.	.	X	120	.	ENSP00000333534:R120X	R	+	1	2	CYP2F1	46318115	0.000000	0.05858	0.189000	0.23252	0.189000	0.23516	-0.842000	0.04354	0.413000	0.25759	-0.335000	0.08231	CGA	CYP2F1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000197446		0.562	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2F1	HGNC	protein_coding	OTTHUMT00000394527.2	-	0.00	71	0	C			41626275	+1	tier1	-	no_errors	ENST00000331105	ensembl	human	known	74_37	nonsense	5.62	84	5	SNP	0.000	T
DDX26B	203522	genome.wustl.edu	37	X	134715018	134715018	+	Silent	SNP	T	T	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chrX:134715018T>A	ENST00000370752.4	+	16	2761	c.2427T>A	c.(2425-2427)ccT>ccA	p.P809P	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	809										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAAGGACCTCTGGAGATGA	0.303																																																	0													36.0	34.0	35.0					X																	134715018		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.2427T>A	X.37:g.134715018T>A			Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Silent	SNP	pfscan_VWF_A	p.P809	ENST00000370752.4	37	c.2427	CCDS35401.1	X																																																																																			DDX26B	-	NULL	ENSG00000165359		0.303	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX26B	HGNC	protein_coding	OTTHUMT00000058420.1	-	0.00	149	0	T	NM_182540		134715018	+1	tier1	-	no_errors	ENST00000370752	ensembl	human	known	74_37	silent	59.22	42	61	SNP	1.000	A
DDX60L	91351	genome.wustl.edu	37	4	169279318	169279318	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr4:169279318T>A	ENST00000511577.1	-	38	5348	c.5101A>T	c.(5101-5103)Agt>Tgt	p.S1701C	DDX60L_ENST00000260184.7_Missense_Mutation_p.S1701C			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1701							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TGATTTTGACTCATTTGAATT	0.318																																																	0													159.0	150.0	153.0					4																	169279318		1815	4078	5893	SO:0001583	missense	0			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.5101A>T	4.37:g.169279318T>A	ENSP00000422423:p.Ser1701Cys		Q96ND6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S1701C	ENST00000511577.1	37	c.5101		4	.	.	.	.	.	.	.	.	.	.	T	4.563	0.104580	0.08731	.	.	ENSG00000181381	ENST00000260184;ENST00000511577	T;T	0.19394	2.15;2.15	1.73	-3.01	0.05463	.	.	.	.	.	T	0.08044	0.0201	N	0.08118	0	0.09310	N	1	B	0.26120	0.142	B	0.17433	0.018	T	0.23583	-1.0184	9	0.54805	T	0.06	.	2.7968	0.05403	0.4415:0.0:0.348:0.2105	.	1701	Q5H9U9	DDX6L_HUMAN	C	1701	ENSP00000260184:S1701C;ENSP00000422423:S1701C	ENSP00000260184:S1701C	S	-	1	0	DDX60L	169515893	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.752000	0.04797	-1.066000	0.03164	-1.609000	0.00803	AGT	DDX60L	-	NULL	ENSG00000181381		0.318	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	DDX60L	HGNC	protein_coding	OTTHUMT00000364839.1	-	0.00	76	0	T	NM_001012967		169279318	-1	tier1	-	no_errors	ENST00000260184	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.000	A
DENND2C	163259	genome.wustl.edu	37	1	115168298	115168298	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:115168298T>G	ENST00000393274.1	-	4	933	c.308A>C	c.(307-309)gAc>gCc	p.D103A	DENND2C_ENST00000393277.1_Missense_Mutation_p.D103A|DENND2C_ENST00000393276.3_Missense_Mutation_p.D103A|DENND2C_ENST00000481894.1_5'Flank	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	103					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGTGTATCGTCATATTCATG	0.348																																																	0													126.0	125.0	125.0					1																	115168298		2203	4300	6503	SO:0001583	missense	0				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.308A>C	1.37:g.115168298T>G	ENSP00000376955:p.Asp103Ala		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.D103A	ENST00000393274.1	37	c.308	CCDS58018.1	1	.	.	.	.	.	.	.	.	.	.	T	0.123	-1.122576	0.01785	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.08634	3.66;3.69;3.07	5.89	-1.99	0.07457	.	2.079160	0.01800	N	0.032855	T	0.01353	0.0044	L	0.29908	0.895	0.09310	N	1	B;B	0.20261	0.001;0.043	B;B	0.21360	0.001;0.034	T	0.38436	-0.9661	10	0.10111	T	0.7	.	2.86	0.05584	0.1125:0.3348:0.1158:0.437	.	103;103	Q68D51;Q68D51-3	DEN2C_HUMAN;.	A	103	ENSP00000376957:D103A;ENSP00000376955:D103A;ENSP00000376958:D103A	ENSP00000358553:D103A	D	-	2	0	DENND2C	114969821	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.405000	0.07196	-0.359000	0.08150	0.455000	0.32223	GAC	DENND2C	-	NULL	ENSG00000175984		0.348	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1	-	0.00	58	0	T	NM_198459		115168298	-1	tier1	-	no_errors	ENST00000393274	ensembl	human	known	74_37	missense	34.29	23	12	SNP	0.000	G
DNTTIP1	116092	genome.wustl.edu	37	20	44433804	44433804	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr20:44433804A>G	ENST00000372622.3	+	9	691	c.623A>G	c.(622-624)aAt>aGt	p.N208S		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	208						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				GCTCGCCTGAATGAATCTACC	0.468																																																	0													202.0	208.0	206.0					20																	44433804		2203	4300	6503	SO:0001583	missense	0			AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"""novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)"", ""TdT binding protein"""	611388	"""chromosome 20 open reading frame 167"""	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.623A>G	20.37:g.44433804A>G	ENSP00000361705:p.Asn208Ser		B2RA18|Q96DE3|Q9BQP2|Q9H148	Missense_Mutation	SNP	NULL	p.N208S	ENST00000372622.3	37	c.623	CCDS13369.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.27|11.27	1.589202|1.589202	0.28357|0.28357	.|.	.|.	ENSG00000101457|ENSG00000101457	ENST00000435014|ENST00000372622	.|T	.|0.42131	.|0.98	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	.|0.369693	.|0.29473	.|N	.|0.012041	T|T	0.28962|0.28962	0.0719|0.0719	L|L	0.36672|0.36672	1.1|1.1	0.32833|0.32833	D|D	0.504303|0.504303	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.29761|0.29761	-1.0001|-1.0001	5|10	.|0.09590	.|T	.|0.72	-12.3708|-12.3708	10.2173|10.2173	0.43177|0.43177	0.8335:0.1665:0.0:0.0|0.8335:0.1665:0.0:0.0	.|.	.|208	.|Q9H147	.|TDIF1_HUMAN	V|S	135|208	.|ENSP00000361705:N208S	.|ENSP00000361705:N208S	M|N	+|+	1|2	0|0	DNTTIP1|DNTTIP1	43867211|43867211	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	3.710000|3.710000	0.54860|0.54860	2.031000|2.031000	0.59945|0.59945	0.421000|0.421000	0.28195|0.28195	ATG|AAT	DNTTIP1	-	NULL	ENSG00000101457		0.468	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP1	HGNC	protein_coding	OTTHUMT00000079502.1	-	0.00	89	0	A	NM_052951		44433804	+1	tier1	-	no_errors	ENST00000372622	ensembl	human	known	74_37	missense	32.88	49	24	SNP	1.000	G
DOCK2	1794	genome.wustl.edu	37	5	169126460	169126460	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr5:169126460delA	ENST00000256935.8	+	12	1210	c.1130delA	c.(1129-1131)caafs	p.Q377fs		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	377					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)			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)			AGTGGAGGGCAAGGTAAAGTG	0.507																																																	0													86.0	76.0	79.0					5																	169126460		2203	4300	6503	SO:0001589	frameshift_variant	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.1130delA	5.37:g.169126460delA	ENSP00000256935:p.Gln377fs		Q2M3I0|Q96AK7	Frame_Shift_Del	DEL	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.G378fs	ENST00000256935.8	37	c.1130	CCDS4371.1	5																																																																																			DOCK2	-	NULL	ENSG00000134516		0.507	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2		0.00	60	0	A	NM_004946		169126460	+1	tier1		no_errors	ENST00000256935	ensembl	human	known	74_37	frame_shift_del	9.52	19	2	DEL	1.000	-
DOCK5	80005	genome.wustl.edu	37	8	25261196	25261196	+	Silent	SNP	T	T	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr8:25261196T>A	ENST00000276440.7	+	48	5093	c.5049T>A	c.(5047-5049)tcT>tcA	p.S1683S		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1683					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTTCCACCTCTTCAAACTCGT	0.507																																					Pancreas(145;34 1887 3271 10937 30165)												0													192.0	156.0	169.0					8																	25261196		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.5049T>A	8.37:g.25261196T>A			B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.S1683	ENST00000276440.7	37	c.5049	CCDS6047.1	8																																																																																			DOCK5	-	NULL	ENSG00000147459		0.507	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2	-	0.00	98	0	T	NM_024940		25261196	+1	tier1	-	no_errors	ENST00000276440	ensembl	human	known	74_37	silent	26.37	67	24	SNP	0.980	A
DOCK8	81704	genome.wustl.edu	37	9	465079	465079	+	3'UTR	SNP	G	G	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr9:465079G>T	ENST00000453981.1	+	0	7272				RP11-165F24.3_ENST00000591577.1_RNA|DOCK8_ENST00000432829.2_3'UTR|RP11-165F24.3_ENST00000586805.1_RNA|RP11-165F24.3_ENST00000608617.1_RNA|RP11-165F24.3_ENST00000588989.1_RNA|RP11-165F24.3_ENST00000585819.1_RNA|RP11-165F24.3_ENST00000415004.2_RNA|RP11-165F24.3_ENST00000590518.1_RNA|RP11-165F24.3_ENST00000588474.1_RNA|RP11-165F24.3_ENST00000589287.1_RNA|RP11-165F24.3_ENST00000589387.1_RNA|DOCK8_ENST00000382329.1_3'UTR|RP11-165F24.3_ENST00000593137.1_RNA|RP11-165F24.3_ENST00000592805.1_RNA			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8						blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TCAGAACATTGTGCTGTCTGT	0.313																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.*860G>T	9.37:g.465079G>T			A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	RNA	SNP	-	NULL	ENST00000453981.1	37	NULL	CCDS6440.2	9																																																																																			DOCK8	-	-	ENSG00000107099		0.313	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	-	0.00	84	0	G	XM_036307		465079	+1	tier1	-	no_errors	ENST00000462618	ensembl	human	known	74_37	rna	47.69	34	31	SNP	0.000	T
DRD1	1812	genome.wustl.edu	37	5	174869217	174869217	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr5:174869217G>A	ENST00000393752.2	-	2	1878	c.886C>T	c.(886-888)Ccc>Tcc	p.P296S		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	296					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CCACAGAAGGGCAAAATGCAG	0.478																																																	0													64.0	66.0	66.0					5																	174869217		2203	4300	6503	SO:0001583	missense	0			X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.886C>T	5.37:g.174869217G>A	ENSP00000377353:p.Pro296Ser		B2RA44|Q4QRJ0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D1_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt,prints_ADR_fam	p.P296S	ENST00000393752.2	37	c.886	CCDS4393.1	5	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048305	0.55110	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.35973	1.28	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.59321	0.2185	M	0.72353	2.195	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.52953	-0.8506	10	0.25751	T	0.34	.	18.3094	0.90194	0.0:0.0:1.0:0.0	.	296	P21728	DRD1_HUMAN	S	296	ENSP00000377353:P296S	ENSP00000327652:P296S	P	-	1	0	DRD1	174801823	1.000000	0.71417	1.000000	0.80357	0.238000	0.25445	9.675000	0.98638	2.653000	0.90120	0.650000	0.86243	CCC	DRD1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000184845		0.478	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD1	HGNC	protein_coding	OTTHUMT00000252982.2		0.00	52	0	G	NM_000794		174869217	-1			no_errors	ENST00000393752	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	A
DSG2	1829	genome.wustl.edu	37	18	29126669	29126669	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr18:29126669T>C	ENST00000261590.8	+	15	3529	c.3320T>C	c.(3319-3321)gTt>gCt	p.V1107A	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	1107					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TCCACCAGAGTTACCAAGCAT	0.448																																																	0													77.0	75.0	76.0					18																	29126669		2044	4197	6241	SO:0001583	missense	0			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.3320T>C	18.37:g.29126669T>C	ENSP00000261590:p.Val1107Ala		Q4KKU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.V1107A	ENST00000261590.8	37	c.3320	CCDS42423.1	18	.	.	.	.	.	.	.	.	.	.	T	17.97	3.518728	0.64634	.	.	ENSG00000046604	ENST00000261590	T	0.67171	-0.25	5.23	2.78	0.32641	.	0.483224	0.19242	N	0.119128	T	0.55178	0.1904	L	0.47190	1.495	0.80722	D	1	B	0.27498	0.18	B	0.20577	0.03	T	0.53450	-0.8437	10	0.87932	D	0	.	7.7036	0.28638	0.0:0.0733:0.1409:0.7858	.	1107	Q14126	DSG2_HUMAN	A	1107	ENSP00000261590:V1107A	ENSP00000261590:V1107A	V	+	2	0	DSG2	27380667	0.990000	0.36364	0.787000	0.31911	0.918000	0.54935	2.003000	0.40844	0.514000	0.28300	0.533000	0.62120	GTT	DSG2	-	NULL	ENSG00000046604		0.448	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG2	HGNC	protein_coding	OTTHUMT00000447506.1	-	0.00	37	0	T	NM_001943		29126669	+1	tier1	-	no_errors	ENST00000261590	ensembl	human	known	74_37	missense	39.02	25	16	SNP	0.995	C
DST	667	genome.wustl.edu	37	6	56504082	56504082	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr6:56504082T>C	ENST00000361203.3	-	18	2313	c.2306A>G	c.(2305-2307)aAt>aGt	p.N769S	DST_ENST00000421834.2_Missense_Mutation_p.N769S|DST_ENST00000370765.6_Missense_Mutation_p.N443S|DST_ENST00000244364.6_Missense_Mutation_p.N443S|DST_ENST00000370788.2_Missense_Mutation_p.N769S|DST_ENST00000518935.1_Missense_Mutation_p.N443S|DST_ENST00000370754.5_Missense_Mutation_p.N947S|DST_ENST00000370769.4_Missense_Mutation_p.N769S|DST_ENST00000446842.2_Missense_Mutation_p.N443S|DST_ENST00000312431.6_Missense_Mutation_p.N769S			Q03001	DYST_HUMAN	dystonin	769					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGCTGGATGATTTTCTAGAAG	0.338																																																	0													117.0	110.0	113.0					6																	56504082		2203	4300	6503	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2306A>G	6.37:g.56504082T>C	ENSP00000354508:p.Asn769Ser		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.N947S	ENST00000361203.3	37	c.2840		6	.	.	.	.	.	.	.	.	.	.	T	13.93	2.384772	0.42308	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	D;D;D;D;D;D;D;D;D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72	5.51	4.31	0.51392	.	0.118738	0.36778	N	0.002411	D	0.91081	0.7193	M	0.75777	2.31	0.30723	N	0.748055	B;B;B;B;B;B;B;B;B;B	0.28760	0.141;0.001;0.01;0.002;0.221;0.006;0.005;0.046;0.001;0.008	B;B;B;B;B;B;B;B;B;B	0.28553	0.021;0.007;0.004;0.01;0.076;0.035;0.017;0.091;0.003;0.022	D	0.87951	0.2723	9	0.37606	T	0.19	.	11.8646	0.52486	0.0:0.0697:0.0:0.9303	.	798;769;769;947;885;443;443;443;769;443	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	S	443;947;769;769;443;769;769;769;443;809;443;443	ENSP00000244364:N443S;ENSP00000359790:N947S;ENSP00000359805:N769S;ENSP00000400883:N769S;ENSP00000393645:N443S;ENSP00000307959:N769S;ENSP00000359824:N769S;ENSP00000354508:N769S;ENSP00000404924:N443S;ENSP00000431030:N809S;ENSP00000359801:N443S;ENSP00000431003:N443S	ENSP00000244364:N443S	N	-	2	0	DST	56612041	1.000000	0.71417	0.977000	0.42913	0.691000	0.40173	4.126000	0.57937	0.985000	0.38656	0.477000	0.44152	AAT	DST	-	pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.338	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0.00	60	0	T	NM_001723		56504082	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	missense	29.73	26	11	SNP	1.000	C
DTX1	1840	genome.wustl.edu	37	12	113534587	113534587	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr12:113534587C>T	ENST00000257600.3	+	9	2209	c.1706C>T	c.(1705-1707)aCg>aTg	p.T569M	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	569					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						TCCAACACCACGGGCGAGTCG	0.632																																																	0													77.0	52.0	61.0					12																	113534587		2203	4300	6503	SO:0001583	missense	0			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1706C>T	12.37:g.113534587C>T	ENSP00000257600:p.Thr569Met		O60630|Q9BS04	Missense_Mutation	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.T569M	ENST00000257600.3	37	c.1706	CCDS9164.1	12	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687862	0.48097	.	.	ENSG00000135144	ENST00000257600	T	0.24908	1.83	4.99	4.09	0.47781	.	0.119737	0.56097	D	0.000031	T	0.61413	0.2345	H	0.94886	3.595	0.58432	D	0.99999	D	0.89917	1.0	D	0.85130	0.997	T	0.73100	-0.4089	10	0.87932	D	0	-5.0998	13.6044	0.62039	0.1568:0.8432:0.0:0.0	.	569	Q86Y01	DTX1_HUMAN	M	569	ENSP00000257600:T569M	ENSP00000257600:T569M	T	+	2	0	DTX1	112018970	1.000000	0.71417	0.952000	0.39060	0.012000	0.07955	7.757000	0.85209	1.070000	0.40811	-0.314000	0.08810	ACG	DTX1	-	NULL	ENSG00000135144		0.632	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX1	HGNC	protein_coding	OTTHUMT00000405045.2	-	0.00	91	0	C			113534587	+1	tier1	-	no_errors	ENST00000257600	ensembl	human	known	74_37	missense	39.73	44	29	SNP	1.000	T
DUSP10	11221	genome.wustl.edu	37	1	221875156	221875157	+	3'UTR	INS	-	-	A	rs571834010		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:221875156_221875157insA	ENST00000366899.3	-	0	2284_2285				DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_3'UTR|DUSP10_ENST00000323825.3_3'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10						inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CCCAGAGAAGGAAAAAAAAAAA	0.351																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.*598->T	1.37:g.221875167_221875167dupA			D3DTB4|Q6GSI4|Q9H9Z5	RNA	INS	-	NULL	ENST00000366899.3	37	NULL	CCDS1528.1	1																																																																																			DUSP10	-	-	ENSG00000143507		0.351	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP10	HGNC	protein_coding	OTTHUMT00000090716.1		0.00	32	0	-	NM_007207		221875157	-1	tier1		no_errors	ENST00000468085	ensembl	human	known	74_37	rna	11.54	23	3	INS	0.002:0.000	A
DUSP10	11221	genome.wustl.edu	37	1	221875662	221875662	+	3'UTR	DEL	A	A	-	rs3215279		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:221875662delA	ENST00000366899.3	-	0	1779				DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_3'UTR|DUSP10_ENST00000323825.3_3'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10						inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TCCCAACTACAAAAAAAAAAA	0.348																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.*92T>-	1.37:g.221875662delA			D3DTB4|Q6GSI4|Q9H9Z5	RNA	DEL	-	NULL	ENST00000366899.3	37	NULL	CCDS1528.1	1																																																																																			DUSP10	-	-	ENSG00000143507		0.348	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP10	HGNC	protein_coding	OTTHUMT00000090716.1		0.00	21	0	A	NM_007207		221875662	-1	tier1		no_errors	ENST00000468085	ensembl	human	known	74_37	rna	17.39	19	4	DEL	0.040	-
EBNA1BP2	10969	genome.wustl.edu	37	1	43637293	43637293	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:43637293G>T	ENST00000236051.2	-	3	321	c.180C>A	c.(178-180)ttC>ttA	p.F60L	WDR65_ENST00000372492.4_5'Flank|WDR65_ENST00000528956.1_5'Flank|EBNA1BP2_ENST00000431635.2_Missense_Mutation_p.F115L|EBNA1BP2_ENST00000472982.1_5'UTR	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	60					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATCCCGCTTGAATTCTGCCA	0.522																																																	0													169.0	166.0	167.0					1																	43637293		2203	4300	6503	SO:0001583	missense	0			U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.180C>A	1.37:g.43637293G>T	ENSP00000236051:p.Phe60Leu		Q96A66	Missense_Mutation	SNP	pfam_Ebp2	p.F115L	ENST00000236051.2	37	c.345	CCDS478.1	1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512899	0.44660	.	.	ENSG00000117395	ENST00000431635;ENST00000236051	T;T	0.40476	1.03;1.03	5.92	5.92	0.95590	.	0.087427	0.85682	D	0.000000	T	0.38825	0.1055	L	0.28400	0.85	0.58432	D	0.999992	B;B;B	0.28667	0.219;0.083;0.083	B;B;B	0.36567	0.228;0.096;0.096	T	0.10314	-1.0635	10	0.21540	T	0.41	-11.8162	18.5012	0.90882	0.0:0.0:1.0:0.0	.	60;60;60	B4DHA6;Q6IB29;Q99848	.;.;EBP2_HUMAN	L	115;60	ENSP00000407323:F115L;ENSP00000236051:F60L	ENSP00000236051:F60L	F	-	3	2	EBNA1BP2	43409880	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.045000	0.49838	2.809000	0.96659	0.655000	0.94253	TTC	EBNA1BP2	-	pfam_Ebp2	ENSG00000117395		0.522	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBNA1BP2	HGNC	protein_coding	OTTHUMT00000019015.1		0.00	34	0	G			43637293	-1			no_errors	ENST00000431635	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T
EHD3	30845	genome.wustl.edu	37	2	31483423	31483423	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr2:31483423C>T	ENST00000322054.5	+	4	835	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	184	Dynamin-type G.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GCGGGTTGACCGCATCATTCT	0.552																																																	0													97.0	88.0	91.0					2																	31483423		2203	4300	6503	SO:0001583	missense	0			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.550C>T	2.37:g.31483423C>T	ENSP00000327116:p.Arg184Cys		B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.R184C	ENST00000322054.5	37	c.550	CCDS1774.1	2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323377	0.81580	.	.	ENSG00000013016	ENST00000322054	D	0.96830	-4.14	5.15	5.15	0.70609	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.98254	0.9422	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.98971	1.0801	10	0.72032	D	0.01	-23.4737	18.813	0.92065	0.0:1.0:0.0:0.0	.	184	Q9NZN3	EHD3_HUMAN	C	184	ENSP00000327116:R184C	ENSP00000327116:R184C	R	+	1	0	EHD3	31336927	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.749000	0.62155	2.667000	0.90743	0.561000	0.74099	CGC	EHD3	-	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	ENSG00000013016		0.552	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD3	HGNC	protein_coding	OTTHUMT00000216810.1	-	0.00	63	0	C	NM_014600		31483423	+1	tier1	-	no_errors	ENST00000322054	ensembl	human	known	74_37	missense	25.37	50	17	SNP	1.000	T
EML4	27436	genome.wustl.edu	37	2	42557121	42557121	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr2:42557121A>G	ENST00000318522.5	+	23	2982	c.2720A>G	c.(2719-2721)aAt>aGt	p.N907S	EML4_ENST00000401738.3_Missense_Mutation_p.N918S|EML4_ENST00000402711.2_Missense_Mutation_p.N849S|EML4_ENST00000453191.2_Missense_Mutation_p.N171S	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	907					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						CAGCCCTTAAATGAGACAGCT	0.498			T	ALK	NSCLC																																			Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0													89.0	84.0	86.0					2																	42557121		2203	4300	6503	SO:0001583	missense	0			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.2720A>G	2.37:g.42557121A>G	ENSP00000320663:p.Asn907Ser		A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N907S	ENST00000318522.5	37	c.2720	CCDS1807.1	2	.	.	.	.	.	.	.	.	.	.	A	10.11	1.260966	0.23051	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738;ENST00000453191	T;T;D;T	0.97575	1.19;1.25;-4.44;0.95	5.14	-0.208	0.13185	.	1.562160	0.03056	N	0.155223	D	0.92143	0.7509	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	D	0.84686	0.0720	10	0.20046	T	0.44	-0.0436	8.6649	0.34114	0.5308:0.3929:0.0763:0.0	.	849;849;918;907	A6H8Y6;B5MCW9;B5MBZ0;Q9HC35	.;.;.;EMAL4_HUMAN	S	907;849;918;171	ENSP00000320663:N907S;ENSP00000385059:N849S;ENSP00000384939:N918S;ENSP00000400590:N171S	ENSP00000320663:N907S	N	+	2	0	EML4	42410625	0.000000	0.05858	0.001000	0.08648	0.958000	0.62258	0.727000	0.25999	0.057000	0.16193	0.533000	0.62120	AAT	EML4	-	NULL	ENSG00000143924		0.498	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	HGNC	protein_coding	OTTHUMT00000250463.3	-	0.00	19	0	A	NM_019063		42557121	+1	tier1	-	no_errors	ENST00000318522	ensembl	human	known	74_37	missense	22.22	28	8	SNP	0.006	G
AAK1	22848	genome.wustl.edu	37	2	69691327	69691329	+	Intron	DEL	AAC	AAC	-	rs377035234		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	AAC	AAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr2:69691327_69691329delAAC	ENST00000409068.1	-	15	2300				RP11-427H3.3_ENST00000606389.2_lincRNA			Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1						endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GAGATTTGGAaacaacaacaaca	0.384																																																	0																																										SO:0001627	intron_variant	0			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409068.1:c.1987-2490GTT>-	2.37:g.69691336_69691338delAAC			Q4ZFZ3|Q53RX6|Q9UPV4	RNA	DEL	-	NULL	ENST00000409068.1	37	NULL		2																																																																																			RP11-427H3.3	-	-	ENSG00000188971		0.384	AAK1-011	PUTATIVE	basic	protein_coding	ENSG00000188971	Clone_based_vega_gene	protein_coding	OTTHUMT00000333994.1		0.00	14	0	AAC	NM_014911		69691329	-1	tier1		no_errors	ENST00000606389	ensembl	human	known	74_37	rna	11.11	16	2	DEL	0.000:0.000:0.000	-
CASP14	23581	genome.wustl.edu	37	19	15163839	15163839	+	Intron	SNP	G	G	C			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr19:15163839G>C	ENST00000427043.3	+	3	335				AC004699.1_ENST00000411269.1_RNA|CASP14_ENST00000221740.1_Intron	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase						cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						tactaaaaaggtatttggttt	0.308																																																	0																																										SO:0001627	intron_variant	0				CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"""apoptosis-related cysteine protease"""	605848	"""caspase 14, apoptosis-related cysteine protease"""			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.28-454G>C	19.37:g.15163839G>C			O95823|Q3SYC9	RNA	SNP	-	NULL	ENST00000427043.3	37	NULL	CCDS12323.1	19																																																																																			AC004699.1	-	-	ENSG00000223201		0.308	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000223201	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000465663.1	-	0.00	53	0	G	NM_012114		15163839	+1	tier1	-	no_errors	ENST00000411269	ensembl	human	novel	74_37	rna	18.00	41	9	SNP	0.000	C
RP11-764K9.1	0	genome.wustl.edu	37	9	68400495	68400495	+	lincRNA	SNP	C	C	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr9:68400495C>T	ENST00000417843.2	-	0	1324																											tgtaaccaagcgagttataga	0.488																																																	0																																												0																															9.37:g.68400495C>T				RNA	SNP	-	NULL	ENST00000417843.2	37	NULL		9																																																																																			RP11-764K9.1	-	-	ENSG00000225411		0.488	RP11-764K9.1-001	KNOWN	basic	lincRNA	ENSG00000225411	Clone_based_vega_gene	lincRNA	OTTHUMT00000129817.2	-	0.00	32	0	C			68400495	-1	tier1	-	no_errors	ENST00000417843	ensembl	human	known	74_37	rna	11.76	29	4	SNP	0.113	T
NEDD9	4739	genome.wustl.edu	37	6	11185398	11185398	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr6:11185398G>T	ENST00000379446.5	-	7	2668	c.2502C>A	c.(2500-2502)ttC>ttA	p.F834L	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.F834L	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	834					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TTTCTTCTCAGAACGTTGCCA	0.443																																																	0													49.0	51.0	50.0					6																	11185398		2203	4300	6503	SO:0001583	missense	0			L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.2502C>A	6.37:g.11185398G>T	ENSP00000368759:p.Phe834Leu		A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Splice_Site	SNP	-	NULL	ENST00000379446.5	37	c.NULL	CCDS4520.1	6	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252739	0.39797	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	T;T	0.38560	1.13;1.26	6.17	4.39	0.52855	.	0.303685	0.36815	N	0.002388	T	0.02012	0.0063	N	0.00146	-1.995	0.80722	D	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.47849	-0.9085	10	0.02654	T	1	.	3.3825	0.07260	0.1382:0.1075:0.5462:0.2081	.	834;834;834	G5E9Y9;A8K9G7;Q14511	.;.;CASL_HUMAN	L	834	ENSP00000368759:F834L;ENSP00000422871:F834L	ENSP00000368759:F834L	F	-	3	2	NEDD9	11293384	1.000000	0.71417	0.999000	0.59377	0.849000	0.48306	0.957000	0.29215	0.921000	0.36994	-0.140000	0.14226	TTC	RP3-510L9.1	-	-	ENSG00000247925		0.443	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000247925	Clone_based_vega_gene	protein_coding	OTTHUMT00000039853.2	-	0.00	74	0	G	NM_006403		11185398	+1	tier1	-	no_errors	ENST00000500636	ensembl	human	known	74_37	splice_site	5.97	63	4	SNP	1.000	T
BAG5	9529	genome.wustl.edu	37	14	104028196	104028197	+	Intron	INS	-	-	AA	rs75347400|rs562770835|rs34050832|rs397810530	byFrequency	TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr14:104028196_104028197insAA	ENST00000445922.2	-	1	219				APOPT1_ENST00000556253.2_5'Flank|RP11-73M18.2_ENST00000472726.2_5'Flank|BAG5_ENST00000337322.4_Intron|BAG5_ENST00000299204.4_Intron|APOPT1_ENST00000247618.4_5'Flank|RP11-894P9.2_ENST00000556332.1_RNA|APOPT1_ENST00000409074.2_5'Flank	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5						negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			TCCACTCTCTCAAAAAAAAACA	0.535																																					NSCLC(171;1832 2055 18950 31566 41632)												0																																										SO:0001627	intron_variant	0			AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.27+239->TT	14.37:g.104028203_104028204dupAA			O94950|Q86W59	RNA	INS	-	NULL	ENST00000445922.2	37	NULL	CCDS9982.1	14																																																																																			RP11-894P9.2	-	-	ENSG00000258851		0.535	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258851	Clone_based_vega_gene	protein_coding	OTTHUMT00000414990.1		0.00	36	0	-			104028197	+1	tier1		no_errors	ENST00000556332	ensembl	human	known	74_37	rna	12.50	21	3	INS	0.000:0.004	AA
ATP9B	374868	genome.wustl.edu	37	18	77013626	77013626	+	Intron	SNP	A	A	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr18:77013626A>G	ENST00000426216.2	+	12	1285				RP11-1136J12.1_ENST00000591742.1_RNA|ATP9B_ENST00000307671.7_Intron	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B						establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TATGAAAGAAATTACCCAAAC	0.358																																																	0																																										SO:0001627	intron_variant	0			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.1268+85A>G	18.37:g.77013626A>G			O60872|Q08AD8|Q08AD9	RNA	SNP	-	NULL	ENST00000426216.2	37	NULL	CCDS12014.1	18																																																																																			RP11-1136J12.1	-	-	ENSG00000267628		0.358	ATP9B-001	KNOWN	basic|CCDS	protein_coding	ENSG00000267628	Clone_based_vega_gene	protein_coding	OTTHUMT00000256402.3	-	0.00	23	0	A	NM_198531		77013626	-1	tier1	-	no_errors	ENST00000591742	ensembl	human	known	74_37	rna	28.57	20	8	SNP	0.101	G
CASZ1	54897	genome.wustl.edu	37	1	10709302	10709302	+	Intron	DEL	G	G	-			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:10709302delG	ENST00000377022.3	-	14	3353				RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Intron	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1						multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGGCGGGTGCGGGGGGACGAT	0.637																																																	0													26.0	29.0	28.0					1																	10709302		2201	4298	6499	SO:0001627	intron_variant	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.3035+37C>-	1.37:g.10709302delG			Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	RNA	DEL	-	NULL	ENST00000377022.3	37	NULL	CCDS41246.1	1																																																																																			RP4-734G22.3	-	-	ENSG00000272078		0.637	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000272078	Clone_based_vega_gene	protein_coding	OTTHUMT00000005673.2		0.00	59	0	G	NM_017766		10709302	+1	tier1		no_errors	ENST00000606802	ensembl	human	known	74_37	rna	6.06	31	2	DEL	0.000	-
ERBB2IP	55914	genome.wustl.edu	37	5	65372163	65372163	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr5:65372163A>G	ENST00000284037.5	+	24	4372	c.3983A>G	c.(3982-3984)aAg>aGg	p.K1328R	ERBB2IP_ENST00000380936.1_Intron|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.K1335R|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.K1218R|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.K1218R|ERBB2IP_ENST00000503913.1_3'UTR|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.K1287R|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.K1276R|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.K1283R|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.K526R|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.K1287R	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1328	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.			K -> R (in Ref. 7; AAI15013). {ECO:0000305}.	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)		AGGGTTGAAAAGGATCCAGAA	0.338																																																	0													137.0	136.0	136.0					5																	65372163		2203	4300	6503	SO:0001583	missense	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.3983A>G	5.37:g.65372163A>G	ENSP00000284037:p.Lys1328Arg		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.K1328R	ENST00000284037.5	37	c.3983	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	A	14.03	2.414501	0.42817	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.49139	1.6;1.6;1.6;1.6;1.6;0.79;1.6;1.6;1.6	5.42	4.24	0.50183	PDZ/DHR/GLGF (3);	0.254116	0.38005	N	0.001848	T	0.54046	0.1834	L	0.35249	1.045	0.22675	N	0.998865	D;P;P;P;B;P;B;B	0.57257	0.979;0.694;0.911;0.852;0.421;0.504;0.449;0.368	D;P;P;P;P;P;B;B	0.74023	0.982;0.621;0.826;0.826;0.489;0.568;0.432;0.336	T	0.45848	-0.9233	10	0.27082	T	0.32	.	12.0273	0.53377	0.8704:0.0:0.0:0.1296	.	526;1287;1335;1335;1283;1328;1218;1287	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	R	1328;1287;526;1276;1218;1287;1283;1335;1218	ENSP00000284037:K1328R;ENSP00000370330:K1287R;ENSP00000397833:K526R;ENSP00000370326:K1276R;ENSP00000370322:K1218R;ENSP00000370325:K1287R;ENSP00000422766:K1283R;ENSP00000426632:K1335R;ENSP00000422015:K1218R	ENSP00000284037:K1328R	K	+	2	0	ERBB2IP	65407919	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	6.495000	0.73665	0.978000	0.38470	0.455000	0.32223	AAG	ERBB2IP	-	pfam_PDZ,superfamily_PDZ,pfscan_PDZ	ENSG00000112851		0.338	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	-	0.00	96	0	A	NM_018695		65372163	+1	tier1	-	no_errors	ENST00000284037	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	G
FAM120B	84498	genome.wustl.edu	37	6	170627759	170627759	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr6:170627759G>T	ENST00000476287.1	+	2	1389	c.1281G>T	c.(1279-1281)atG>atT	p.M427I	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.M450I|FAM120B_ENST00000540480.1_Missense_Mutation_p.M439I	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	427					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AAGTTCCCATGTATACAGACT	0.517																																																	0													184.0	200.0	194.0					6																	170627759		2203	4300	6503	SO:0001583	missense	0			AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1281G>T	6.37:g.170627759G>T	ENSP00000417970:p.Met427Ile		B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	NULL	p.M450I	ENST00000476287.1	37	c.1350	CCDS5314.1	6	.	.	.	.	.	.	.	.	.	.	G	7.295	0.611853	0.14066	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.08720	3.07;3.06;3.06	3.07	-2.32	0.06745	.	0.786778	0.12350	N	0.476688	T	0.02156	0.0067	M	0.61703	1.905	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.43637	-0.9379	10	0.29301	T	0.29	-0.4692	3.0674	0.06219	0.4219:0.0:0.2537:0.3244	.	427;427	Q96EK7;F2Z2E1	F120B_HUMAN;.	I	439;450;427	ENSP00000444125:M439I;ENSP00000440125:M450I;ENSP00000417970:M427I	ENSP00000436640:M427I	M	+	3	0	FAM120B	170469684	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-1.515000	0.02252	-0.608000	0.05731	-0.187000	0.12897	ATG	FAM120B	-	NULL	ENSG00000112584		0.517	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM120B	HGNC	protein_coding	OTTHUMT00000043259.2	-	0.00	169	0	G	NM_032448		170627759	+1	tier1	-	no_errors	ENST00000537664	ensembl	human	known	74_37	missense	48.56	107	101	SNP	0.000	T
FAR1	84188	genome.wustl.edu	37	11	13749173	13749173	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr11:13749173A>T	ENST00000354817.3	+	11	1472	c.1328A>T	c.(1327-1329)aAg>aTg	p.K443M	FAR1_ENST00000532502.1_Missense_Mutation_p.K67M	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	443					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						GGAACTAAGAAGTACGTATTG	0.368																																																	0													126.0	126.0	126.0					11																	13749173		2200	4294	6494	SO:0001583	missense	0			AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	26222	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 1"""		"""male sterility domain containing 2"""	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.1328A>T	11.37:g.13749173A>T	ENSP00000346874:p.Lys443Met		D3DQW8|Q5CZA3	Missense_Mutation	SNP	pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase	p.K443M	ENST00000354817.3	37	c.1328	CCDS7813.1	11	.	.	.	.	.	.	.	.	.	.	A	27.7	4.856928	0.91433	.	.	ENSG00000197601	ENST00000354817;ENST00000532502	T	0.29142	1.58	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.60826	-0.7186	10	0.56958	D	0.05	-21.5578	15.7281	0.77780	1.0:0.0:0.0:0.0	.	443	Q8WVX9	FACR1_HUMAN	M	443;67	ENSP00000346874:K443M	ENSP00000346874:K443M	K	+	2	0	FAR1	13705749	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.287000	0.95975	2.246000	0.74042	0.533000	0.62120	AAG	FAR1	-	pfam_FAR	ENSG00000197601		0.368	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAR1	HGNC	protein_coding	OTTHUMT00000385990.2	-	0.00	84	0	A	NM_032228		13749173	+1	tier1	-	no_errors	ENST00000354817	ensembl	human	known	74_37	missense	51.61	30	32	SNP	1.000	T
FGD6	55785	genome.wustl.edu	37	12	95604835	95604835	+	Silent	SNP	G	G	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr12:95604835G>T	ENST00000343958.4	-	2	448	c.225C>A	c.(223-225)atC>atA	p.I75I	FGD6_ENST00000549499.1_Silent_p.I75I|FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000546711.1_Silent_p.I75I	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	75					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GGTTCAACATGATTTTCCTTG	0.408																																																	0													224.0	237.0	232.0					12																	95604835		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.225C>A	12.37:g.95604835G>T			Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.I75	ENST00000343958.4	37	c.225	CCDS31878.1	12																																																																																			FGD6	-	NULL	ENSG00000180263		0.408	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD6	HGNC	protein_coding	OTTHUMT00000407600.1	-	0.00	81	0	G	NM_018351		95604835	-1	tier1	-	no_errors	ENST00000343958	ensembl	human	known	74_37	silent	5.13	74	4	SNP	0.000	T
FGL1	2267	genome.wustl.edu	37	8	17731947	17731947	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr8:17731947C>A	ENST00000398056.2	-	6	1143	c.328G>T	c.(328-330)Gtt>Ttt	p.V110F	FGL1_ENST00000398054.1_Missense_Mutation_p.V110F|FGL1_ENST00000381840.2_Missense_Mutation_p.V110F|FGL1_ENST00000427924.1_Missense_Mutation_p.V110F|FGL1_ENST00000522444.1_Missense_Mutation_p.V110F|FGL1_ENST00000381841.2_Missense_Mutation_p.V110F|FGL1_ENST00000518650.1_Missense_Mutation_p.V110F			Q08830	FGL1_HUMAN	fibrinogen-like 1	110	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TCACAATAAACAGAAAATTCT	0.383																																																	0													128.0	128.0	128.0					8																	17731947		2203	4300	6503	SO:0001583	missense	0			D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"""Fibrinogen C domain containing"""	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.328G>T	8.37:g.17731947C>A	ENSP00000381133:p.Val110Phe		A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.V110F	ENST00000398056.2	37	c.328	CCDS6004.1	8	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762757	0.69763	.	.	ENSG00000104760	ENST00000221204;ENST00000398056;ENST00000521427;ENST00000522444;ENST00000381841;ENST00000427924;ENST00000398054;ENST00000381840;ENST00000518650	D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	5.36	4.48	0.54585	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.293460	0.37530	N	0.002060	D	0.94915	0.8356	H	0.97365	3.99	0.40074	D	0.976051	D;D;D	0.76494	0.999;0.991;0.991	D;D;D	0.74674	0.984;0.93;0.93	D	0.96880	0.9645	10	0.87932	D	0	.	14.522	0.67856	0.0:0.929:0.0:0.071	.	80;110;110	E7ERS0;Q8NG32;Q08830	.;.;FGL1_HUMAN	F	110;110;80;110;110;110;110;110;110	ENSP00000381133:V110F;ENSP00000429757:V110F;ENSP00000371263:V110F;ENSP00000401952:V110F;ENSP00000381131:V110F;ENSP00000371262:V110F;ENSP00000428430:V110F	ENSP00000221204:V110F	V	-	1	0	FGL1	17776227	1.000000	0.71417	0.718000	0.30602	0.601000	0.36947	7.133000	0.77259	1.416000	0.47057	0.650000	0.86243	GTT	FGL1	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000104760		0.383	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FGL1	HGNC	protein_coding	OTTHUMT00000375254.1	-	0.00	53	0	C	NM_004467		17731947	-1	tier1	-	no_errors	ENST00000381840	ensembl	human	known	74_37	missense	38.30	29	18	SNP	0.901	A
FLT3	2322	genome.wustl.edu	37	13	28608041	28608041	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr13:28608041G>A	ENST00000241453.7	-	15	2006	c.1925C>T	c.(1924-1926)gCc>gTc	p.A642V	FLT3_ENST00000537084.1_Missense_Mutation_p.A642V|FLT3_ENST00000380982.4_Missense_Mutation_p.A642V	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	642	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CATTTTGACGGCAACCTGGAT	0.443			"""Mis, O"""		"""AML, ALL"""																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0													249.0	218.0	229.0					13																	28608041		2203	4300	6503	SO:0001583	missense	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1925C>T	13.37:g.28608041G>A	ENSP00000241453:p.Ala642Val		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A642V	ENST00000241453.7	37	c.1925	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867554	0.91587	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	D;D;D	0.95482	-3.72;-3.72;-3.72	5.71	5.71	0.89125	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	D	0.97486	0.9177	M	0.69463	2.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97840	1.0268	10	0.87932	D	0	.	19.8635	0.96793	0.0:0.0:1.0:0.0	.	642;642	P36888-2;P36888	.;FLT3_HUMAN	V	642	ENSP00000241453:A642V;ENSP00000370369:A642V;ENSP00000438139:A642V	ENSP00000241453:A642V	A	-	2	0	FLT3	27506041	1.000000	0.71417	0.925000	0.36789	0.827000	0.46813	9.084000	0.94076	2.700000	0.92200	0.650000	0.86243	GCC	FLT3	-	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	ENSG00000122025		0.443	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	HGNC	protein_coding	OTTHUMT00000044319.2		0.00	59	0	G			28608041	-1			no_errors	ENST00000380982	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	A
FRRS1	391059	genome.wustl.edu	37	1	100174461	100174461	+	3'UTR	SNP	C	C	A	rs146752240		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:100174461C>A	ENST00000414213.1	-	0	2503				FRRS1_ENST00000492943.1_5'Flank|FRRS1_ENST00000287474.5_Missense_Mutation_p.C625F			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1							integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		CCTCTACAGACATGACCCCAG	0.408																																																	0													49.0	50.0	50.0					1																	100174461		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"""stromal cell derived factor receptor 2 homolog (mouse)"""	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.*123G>T	1.37:g.100174461C>A			A6NLN7	Missense_Mutation	SNP	pfam_Reeler_dom,pfam_DOMON_domain,smart_DOMON_domain,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_DOMON_domain,pfscan_Reeler_dom,pfscan_Cyt_b561/ferric_Rdtase_TM	p.C625F	ENST00000414213.1	37	c.1874		1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.568192	0.28003	.	.	ENSG00000156869	ENST00000287474	.	.	.	5.91	-3.12	0.05282	.	3.277210	0.02429	U	0.083339	T	0.13841	0.0335	.	.	.	0.09310	N	1	B	0.25667	0.131	B	0.24006	0.05	T	0.37361	-0.9709	8	0.87932	D	0	24.5427	7.2397	0.26090	0.0:0.3803:0.1202:0.4995	.	625	Q6ZNA5-2	.	F	625	.	ENSP00000287474:C625F	C	-	2	0	FRRS1	99947049	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.553000	0.06012	-0.643000	0.05473	-0.142000	0.14014	TGT	FRRS1	-	NULL	ENSG00000156869		0.408	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	FRRS1	HGNC	protein_coding			0.00	24	0	C	NM_001013660		100174461	-1			no_errors	ENST00000287474	ensembl	human	known	74_37	missense	31.58	13	6	SNP	0.000	A
FRYL	285527	genome.wustl.edu	37	4	48597637	48597637	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr4:48597637T>C	ENST00000503238.1	-	12	1217	c.1218A>G	c.(1216-1218)atA>atG	p.I406M	FRYL_ENST00000358350.4_Missense_Mutation_p.I406M|FRYL_ENST00000506685.1_Missense_Mutation_p.I112M|FRYL_ENST00000264319.7_De_novo_Start_InFrame|FRYL_ENST00000507711.1_Missense_Mutation_p.I406M|FRYL_ENST00000537810.1_Missense_Mutation_p.I406M			O94915	FRYL_HUMAN	FRY-like	406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCTTCACAAATATATTGAGAG	0.378																																																	0													91.0	80.0	83.0					4																	48597637		1850	4085	5935	SO:0001583	missense	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1218A>G	4.37:g.48597637T>C	ENSP00000426064:p.Ile406Met		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.I406M	ENST00000503238.1	37	c.1218	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	T	19.04	3.749058	0.69533	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.16	5.97	1.85	0.25348	Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.80303	0.4598	M	0.81802	2.56	0.80722	D	1	D;D	0.69078	0.991;0.997	D;D	0.87578	0.98;0.998	T	0.80061	-0.1540	10	0.42905	T	0.14	.	13.4019	0.60887	0.0:0.0:0.3718:0.6282	.	406;406	F2Z2S2;O94915	.;FRYL_HUMAN	M	406;406;406;406;112	ENSP00000426064:I406M;ENSP00000351113:I406M;ENSP00000441114:I406M;ENSP00000421584:I406M	ENSP00000351113:I406M	I	-	3	3	FRYL	48292394	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	1.549000	0.36212	0.457000	0.26962	0.528000	0.53228	ATA	FRYL	-	superfamily_ARM-type_fold	ENSG00000075539		0.378	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2		0.00	54	0	T			48597637	-1			no_errors	ENST00000358350	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	C
FSTL4	23105	genome.wustl.edu	37	5	132585213	132585213	+	Silent	SNP	G	G	A	rs375676940		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr5:132585213G>A	ENST00000265342.7	-	7	1032	c.783C>T	c.(781-783)acC>acT	p.T261T	FSTL4_ENST00000507112.1_5'UTR|CTB-49A3.5_ENST00000515122.1_RNA|CTB-49A3.5_ENST00000504312.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	261	Ig-like 1.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAGCCCCACGGTCACTGTGG	0.632											OREG0005128	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	G|||	1	0.000199681	0.0	0.0	5008	,	,		19624	0.001		0.0	False		,,,				2504	0.0																0								G		0,4406		0,0,2203	82.0	64.0	70.0		783	-4.8	1.0	5		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FSTL4	NM_015082.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		261/843	132585213	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.783C>T	5.37:g.132585213G>A		1596	Q8TBU0|Q9UPU1	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom	p.T261	ENST00000265342.7	37	c.783	CCDS34238.1	5																																																																																			FSTL4	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000053108		0.632	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL4	HGNC	protein_coding	OTTHUMT00000370212.1	-	0.00	21	0	G	XM_048786		132585213	-1	tier1	-	no_errors	ENST00000265342	ensembl	human	known	74_37	silent	26.67	11	4	SNP	0.801	A
GJC3	349149	genome.wustl.edu	37	7	99527065	99527065	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr7:99527065C>T	ENST00000312891.2	-	1	178	c.179G>A	c.(178-180)tGc>tAc	p.C60Y	RP4-604G5.1_ENST00000456499.1_RNA	NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	60					cell communication (GO:0007154)|myelination (GO:0042552)|sensory perception of sound (GO:0007605)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GGCAGCCTTGCAGCCCGGCTG	0.612																																																	0													66.0	66.0	66.0					7																	99527065		2202	4300	6502	SO:0001583	missense	0			AF503615	CCDS34697.1	7q22.1	2008-09-04	2007-11-06	2007-11-06	ENSG00000176402	ENSG00000176402		"""Ion channels / Gap junction proteins (connexins)"""	17495	protein-coding gene	gene with protein product	"""connexin 30.2"""	611925	"""gap junction protein, epsilon 1, 29kDa"""	GJE1			Standard	NM_181538		Approved	CX30.2	uc011kjd.2	Q8NFK1	OTTHUMG00000156649	ENST00000312891.2:c.179G>A	7.37:g.99527065C>T	ENSP00000325775:p.Cys60Tyr		A4D296|Q86XI9	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.C60Y	ENST00000312891.2	37	c.179	CCDS34697.1	7	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688329	0.68271	.	.	ENSG00000176402	ENST00000312891	D	0.99745	-6.61	4.63	4.63	0.57726	Connexin, conserved site (1);Connexin, N-terminal (2);	0.000000	0.48286	D	0.000187	D	0.99753	0.9901	M	0.92691	3.335	0.53688	D	0.99997	D	0.89917	1.0	D	0.97110	1.0	D	0.97108	0.9802	10	0.87932	D	0	.	15.3872	0.74711	0.0:1.0:0.0:0.0	.	60	Q8NFK1	CXG3_HUMAN	Y	60	ENSP00000325775:C60Y	ENSP00000325775:C60Y	C	-	2	0	GJC3	99365001	1.000000	0.71417	1.000000	0.80357	0.401000	0.30781	7.338000	0.79269	2.577000	0.86979	0.655000	0.94253	TGC	GJC3	-	pfam_Connexin_N,smart_Connexin_N,prints_Connexin	ENSG00000176402		0.612	GJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJC3	HGNC	protein_coding	OTTHUMT00000345052.1	-	0.00	60	0	C	NM_181538		99527065	-1	tier1	-	no_errors	ENST00000312891	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T
GNAL	2774	genome.wustl.edu	37	18	11753862	11753862	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr18:11753862T>C	ENST00000423027.3	+	4	632	c.311T>C	c.(310-312)gTt>gCt	p.V104A	GNAL_ENST00000334049.6_Missense_Mutation_p.V181A|GNAL_ENST00000590972.1_3'UTR|GNAL_ENST00000535121.1_Missense_Mutation_p.V104A|GNAL_ENST00000269162.5_Missense_Mutation_p.V104A			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	104			Missing (in DYT25). {ECO:0000269|PubMed:23222958}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						ATACCTCCAGTTCCGCTGGCC	0.363																																																	0													97.0	96.0	96.0					18																	11753862		2203	4300	6503	SO:0001583	missense	0			AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.311T>C	18.37:g.11753862T>C	ENSP00000408489:p.Val104Ala		B7ZA26|Q86XU3	Missense_Mutation	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_S	p.V181A	ENST00000423027.3	37	c.542	CCDS11852.1	18	.	.	.	.	.	.	.	.	.	.	T	19.02	3.745540	0.69418	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.69	5.69	0.88448	G protein alpha subunit, helical insertion (2);	0.052237	0.85682	D	0.000000	T	0.59362	0.2188	M	0.81341	2.54	0.80722	D	1	P;P	0.40211	0.549;0.707	P;P	0.49192	0.602;0.571	T	0.64728	-0.6339	10	0.87932	D	0	.	15.955	0.79880	0.0:0.0:0.0:1.0	.	104;181	P38405;Q86XU3	GNAL_HUMAN;.	A	43;181;104;104;104	ENSP00000334051:V181A;ENSP00000439023:V104A;ENSP00000269162:V104A;ENSP00000408489:V104A	ENSP00000269162:V104A	V	+	2	0	GNAL	11743862	1.000000	0.71417	0.963000	0.40424	0.803000	0.45373	5.922000	0.70036	2.181000	0.69327	0.459000	0.35465	GTT	GNAL	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S	ENSG00000141404		0.363	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAL	HGNC	protein_coding	OTTHUMT00000254561.2	-	0.00	107	0	T	NM_182978, NM_002071		11753862	+1	tier1	-	no_errors	ENST00000334049	ensembl	human	known	74_37	missense	8.33	87	8	SNP	1.000	C
GRM1	2911	genome.wustl.edu	37	6	146747724	146747724	+	Intron	SNP	G	G	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr6:146747724G>T	ENST00000282753.1	+	8	2895				GRM1_ENST00000507907.1_Missense_Mutation_p.S897I|GRM1_ENST00000392299.2_Missense_Mutation_p.S897I|GRM1_ENST00000361719.2_Intron|GRM1_ENST00000492807.2_Missense_Mutation_p.S897I|GRM1_ENST00000355289.4_Intron			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1						activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TCGCCCACCAGCCAATGTCCG	0.483																																																	0													43.0	42.0	42.0					6																	146747724		1568	3582	5150	SO:0001627	intron_variant	0			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2661-7284G>T	6.37:g.146747724G>T			B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	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_1,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.S897I	ENST00000282753.1	37	c.2690	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237862	0.39598	.	.	ENSG00000152822	ENST00000392299;ENST00000492807;ENST00000507907	D;D;D	0.87729	-2.29;-2.29;-2.29	5.75	2.0	0.26442	.	.	.	.	.	T	0.58708	0.2141	N	0.08118	0	0.22827	N	0.99869	B	0.25105	0.118	B	0.28232	0.087	T	0.55270	-0.8167	9	0.56958	D	0.05	.	9.1318	0.36850	0.3508:0.0:0.6492:0.0	.	897	Q13255-2	.	I	897	ENSP00000376119:S897I;ENSP00000424095:S897I;ENSP00000425599:S897I	ENSP00000376119:S897I	S	+	2	0	GRM1	146789417	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.045000	0.41250	0.365000	0.24400	0.655000	0.94253	AGC	GRM1	-	NULL	ENSG00000152822		0.483	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	-	0.00	78	0	G	NM_000838		146747724	+1	tier1	-	no_errors	ENST00000392299	ensembl	human	known	74_37	missense	6.02	78	5	SNP	0.996	T
GRXCR1	389207	genome.wustl.edu	37	4	42965026	42965026	+	Missense_Mutation	SNP	G	G	T	rs577521620		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr4:42965026G>T	ENST00000399770.2	+	2	502	c.502G>T	c.(502-504)Gta>Tta	p.V168L		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	168	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)	p.V168I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AAACCATCGCGTAAAATTTGA	0.428																																																	1	Substitution - Missense(1)	endometrium(1)											204.0	204.0	204.0					4																	42965026		1862	4096	5958	SO:0001583	missense	0				CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.502G>T	4.37:g.42965026G>T	ENSP00000382670:p.Val168Leu			Missense_Mutation	SNP	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom	p.V168L	ENST00000399770.2	37	c.502	CCDS43225.1	4	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182294	0.78677	.	.	ENSG00000215203	ENST00000399770	T	0.37235	1.21	5.96	5.96	0.96718	Glutaredoxin (2);Thioredoxin-like fold (2);	0.086471	0.46145	U	0.000314	T	0.52773	0.1755	M	0.75150	2.29	0.58432	D	0.999999	D	0.59357	0.985	P	0.50570	0.644	T	0.54761	-0.8245	10	0.59425	D	0.04	-17.2512	19.3889	0.94570	0.0:0.0:1.0:0.0	.	168	A8MXD5	GRCR1_HUMAN	L	168	ENSP00000382670:V168L	ENSP00000382670:V168L	V	+	1	0	GRXCR1	42659783	1.000000	0.71417	0.614000	0.29051	0.729000	0.41735	7.639000	0.83342	2.826000	0.97356	0.655000	0.94253	GTA	GRXCR1	-	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold	ENSG00000215203		0.428	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRXCR1	HGNC	protein_coding	OTTHUMT00000360576.1	-	0.00	115	0	G	NM_001080476		42965026	+1	tier1	-	no_errors	ENST00000399770	ensembl	human	known	74_37	missense	26.83	90	33	SNP	0.996	T
GSAP	54103	genome.wustl.edu	37	7	76950062	76950062	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr7:76950062delA	ENST00000257626.7	-	26	2147	c.2069delT	c.(2068-2070)ttgfs	p.L690fs	GSAP_ENST00000441833.2_Frame_Shift_Del_p.L11fs|GSAP_ENST00000440473.1_5'UTR	NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	690					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										AGGTAAAAACAAACTGTTTGT	0.393																																																	0													75.0	72.0	73.0					7																	76950062		1866	4109	5975	SO:0001589	frameshift_variant	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.2069delT	7.37:g.76950062delA	ENSP00000257626:p.Leu690fs		A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Frame_Shift_Del	DEL	NULL	p.L690fs	ENST00000257626.7	37	c.2069	CCDS34672.2	7																																																																																			GSAP	-	NULL	ENSG00000186088		0.393	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSAP	HGNC	protein_coding	OTTHUMT00000318672.2		0.00	29	0	A	NM_017439		76950062	-1	tier1		no_errors	ENST00000257626	ensembl	human	known	74_37	frame_shift_del	18.18	9	2	DEL	1.000	-
HIVEP1	3096	genome.wustl.edu	37	6	12161991	12161991	+	Silent	SNP	G	G	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr6:12161991G>A	ENST00000379388.2	+	8	7139	c.6807G>A	c.(6805-6807)agG>agA	p.R2269R	HIVEP1_ENST00000541134.1_Silent_p.R134R	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2269					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACTACAATAGGAAGACACTCT	0.547																																																	0													84.0	88.0	87.0					6																	12161991		2132	4251	6383	SO:0001819	synonymous_variant	0			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.6807G>A	6.37:g.12161991G>A			B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R2269	ENST00000379388.2	37	c.6807	CCDS43426.1	6																																																																																			HIVEP1	-	NULL	ENSG00000095951		0.547	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	-	0.00	23	0	G	NM_002114		12161991	+1	tier1	-	no_errors	ENST00000379388	ensembl	human	known	74_37	silent	37.50	15	9	SNP	0.000	A
HMCN2	256158	genome.wustl.edu	37	9	133269131	133269133	+	3'UTR	DEL	CCC	CCC	-			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	CCC	CCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr9:133269131_133269133delCCC	ENST00000487727.2	+	0	1324_1326							Q8NDA2	HMCN2_HUMAN	hemicentin 2						response to stimulus (GO:0050896)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)										CTCCATAGTGCCCCCTGTCCTGG	0.611																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK074396		9q34.11	2013-01-29			ENSG00000148357	ENSG00000148357		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21293	protein-coding gene	gene with protein product							Standard	XM_006710218		Approved	DKFZp434P0216, FLJ23816		Q8NDA2	OTTHUMG00000140096	ENST00000487727.2:c.*1323CCC>-	9.37:g.133269131_133269133delCCC			Q8N225|Q8TCI8	RNA	DEL	-	NULL	ENST00000487727.2	37	NULL		9																																																																																			HMCN2	-	-	ENSG00000148357		0.611	HMCN2-006	KNOWN	mRNA_start_NF|basic	processed_transcript	HMCN2	HGNC	protein_coding	OTTHUMT00000054659.3		0.00	87	0	CCC	XM_175125		133269133	+1	tier1		no_errors	ENST00000487727	ensembl	human	known	74_37	rna	31.71	56	26	DEL	1.000:1.000:0.997	-
HMGB1P5	10354	genome.wustl.edu	37	3	22423918	22423918	+	RNA	SNP	A	A	G	rs545492903|rs368921999	byFrequency	TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr3:22423918A>G	ENST00000451497.1	+	0	483									high mobility group box 1 pseudogene 5																		aggaagatgaagaagatgaag	0.398																																																	0																																												0			AF076677		3p24	2011-09-21	2011-04-05	2010-10-15	ENSG00000132967	ENSG00000132967		"""High mobility group / HMG-box pseudogenes"""	4997	pseudogene	pseudogene			"""high-mobility group (nonhistone chromosomal) protein 1-like 5"", ""high-mobility group (nonhistone chromosomal) protein 1-like 5 pseudogene"", ""high-mobility group box 1-like 5 pseudogene"", ""high-mobility group box 1-like 15"", ""high-mobility group box 1 pseudogene 2"", ""high-mobility group box 1-like 5"", ""high-mobility group box 1 pseudogene 5"""	HMG1L5, HMGB1L15, HMGB1P2, HMGB1L5		9925949	Standard	NG_000897		Approved				OTTHUMG00000155591		3.37:g.22423918A>G				RNA	SNP	-	NULL	ENST00000451497.1	37	NULL		3																																																																																			HMGB1P5	-	-	ENSG00000132967		0.398	HMGB1P5-002	KNOWN	basic	processed_transcript	HMGB1P5	HGNC	pseudogene	OTTHUMT00000340803.1	-	0.00	20	0	A	NG_000897		22423918	+1	tier1	-	no_errors	ENST00000451497	ensembl	human	known	74_37	rna	35.71	9	5	SNP	0.991	G
HNRNPM	4670	genome.wustl.edu	37	19	8550661	8550661	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr19:8550661T>G	ENST00000325495.4	+	14	1390	c.1349T>G	c.(1348-1350)aTg>aGg	p.M450R	HNRNPM_ENST00000348943.3_Missense_Mutation_p.M411R	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	450	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GTGGAGCGCATGGGCTCCGGC	0.697																																																	0													59.0	65.0	63.0					19																	8550661		2203	4298	6501	SO:0001583	missense	0			L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1349T>G	19.37:g.8550661T>G	ENSP00000325376:p.Met450Arg		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom	p.M450R	ENST00000325495.4	37	c.1349	CCDS12203.1	19	.	.	.	.	.	.	.	.	.	.	T	15.24	2.775438	0.49786	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.16324	2.35;2.67	5.9	5.9	0.94986	.	0.236233	0.51477	N	0.000087	T	0.24160	0.0585	M	0.72894	2.215	0.51233	D	0.99991	B;P;B;B	0.39282	0.001;0.666;0.0;0.0	B;B;B;B	0.37650	0.001;0.255;0.001;0.0	T	0.02220	-1.1193	10	0.62326	D	0.03	.	15.1472	0.72667	0.0:0.0:0.0:1.0	.	290;450;411;335	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	R	450;411;335;7	ENSP00000325376:M450R;ENSP00000325732:M411R	ENSP00000325376:M450R	M	+	2	0	HNRNPM	8456661	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.615000	0.83006	2.254000	0.74563	0.482000	0.46254	ATG	HNRNPM	-	NULL	ENSG00000099783		0.697	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPM	HGNC	protein_coding	OTTHUMT00000460894.1	-	0.00	12	0	T			8550661	+1	tier1	-	no_errors	ENST00000325495	ensembl	human	known	74_37	missense	31.25	11	5	SNP	1.000	G
HS2ST1	9653	genome.wustl.edu	37	1	87538711	87538711	+	Silent	SNP	C	C	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:87538711C>T	ENST00000370550.5	+	2	582	c.219C>T	c.(217-219)gaC>gaT	p.D73D	HS2ST1_ENST00000356813.4_Silent_p.D47D|RP5-1052I5.2_ENST00000370548.2_Silent_p.D47D|HS2ST1_ENST00000370551.4_Silent_p.D73D	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	73					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		AGGAAGAGGACATGGTGATCA	0.438																																																	0													124.0	110.0	115.0					1																	87538711		2203	4300	6503	SO:0001819	synonymous_variant	0			AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"""Sulfotransferases, membrane-bound"""	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255	ENST00000370550.5:c.219C>T	1.37:g.87538711C>T			D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Silent	SNP	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.D73	ENST00000370550.5	37	c.219	CCDS711.1	1																																																																																			HS2ST1	-	pfam_Sulfotransferase,superfamily_P-loop_NTPase	ENSG00000153936		0.438	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS2ST1	HGNC	protein_coding	OTTHUMT00000028279.2	-	0.00	95	0	C	NM_012262		87538711	+1	tier1	-	no_errors	ENST00000370550	ensembl	human	known	74_37	silent	11.43	62	8	SNP	0.995	T
HSPA2	3306	genome.wustl.edu	37	14	65007517	65007517	+	5'UTR	SNP	A	A	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr14:65007517A>G	ENST00000247207.6	+	0	332				RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000554883.1_3'UTR|HSPA2_ENST00000394709.1_Intron	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2						male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GACTCCGCGGAGTTCATCTCC	0.617											OREG0022731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(136;1211 1835 24894 31984 38227)												0													39.0	34.0	36.0					14																	65007517		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000247207.6:c.-51A>G	14.37:g.65007517A>G		1080	Q15508|Q53XM3|Q9UE78	RNA	SNP	-	NULL	ENST00000247207.6	37	NULL	CCDS9766.1	14																																																																																			HSPA2	-	-	ENSG00000126803		0.617	HSPA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA2	HGNC	protein_coding		-	0.00	62	0	A			65007517	+1	tier1	-	no_errors	ENST00000554883	ensembl	human	putative	74_37	rna	32.00	17	8	SNP	0.000	G
IGDCC4	57722	genome.wustl.edu	37	15	65681218	65681218	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr15:65681218C>T	ENST00000352385.2	-	15	2844	c.2635G>A	c.(2635-2637)Gtg>Atg	p.V879M		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	879	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						AGATACTCCACGATCTCCCCG	0.662																																																	0													77.0	57.0	64.0					15																	65681218		2201	4299	6500	SO:0001583	missense	0				CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2635G>A	15.37:g.65681218C>T	ENSP00000319623:p.Val879Met		Q9HCE4	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V879M	ENST00000352385.2	37	c.2635	CCDS10206.1	15	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867012	0.72065	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.58358	0.34	5.19	5.19	0.71726	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.245307	0.35555	N	0.003127	T	0.66436	0.2789	L	0.42632	1.34	0.29440	N	0.859238	D	0.76494	0.999	D	0.71656	0.974	T	0.64512	-0.6390	10	0.56958	D	0.05	-19.1984	18.7143	0.91670	0.0:1.0:0.0:0.0	.	879	Q8TDY8	IGDC4_HUMAN	M	879;608	ENSP00000319623:V879M	ENSP00000319623:V879M	V	-	1	0	IGDCC4	63468271	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.029000	0.49712	2.433000	0.82419	0.561000	0.74099	GTG	IGDCC4	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000103742		0.662	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	IGDCC4	HGNC	protein_coding	OTTHUMT00000256825.2	-	0.00	55	0	C	NM_020962		65681218	-1	tier1	-	no_errors	ENST00000352385	ensembl	human	novel	74_37	missense	35.14	24	13	SNP	1.000	T
IKBKB	3551	genome.wustl.edu	37	8	42176904	42176904	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr8:42176904T>C	ENST00000520810.1	+	14	1667	c.1481T>C	c.(1480-1482)cTg>cCg	p.L494P	IKBKB_ENST00000379708.3_Missense_Mutation_p.L271P|IKBKB_ENST00000520835.1_Missense_Mutation_p.L492P|IKBKB_ENST00000416505.2_Missense_Mutation_p.L435P|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000522785.1_3'UTR	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	494					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CAGATTGACCTGGAGAAGTAC	0.423											OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													122.0	113.0	116.0					8																	42176904		2203	4300	6503	SO:0001583	missense	0			AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1481T>C	8.37:g.42176904T>C	ENSP00000430684:p.Leu494Pro	906	B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L494P	ENST00000520810.1	37	c.1481	CCDS6128.1	8	.	.	.	.	.	.	.	.	.	.	T	22.8	4.339406	0.81911	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;D;T;T	0.81996	-1.45;-1.56;-1.39;2.15	5.95	4.78	0.61160	.	0.125201	0.53938	D	0.000042	D	0.90270	0.6957	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;1.0;1.0;1.0	P;D;D;D;D	0.87578	0.823;0.992;0.998;0.982;0.982	D	0.90541	0.4502	10	0.66056	D	0.02	.	12.3649	0.55222	0.1264:0.0:0.0:0.8736	.	435;492;271;445;494	B4E0U4;O14920-2;B3KRB7;Q59GL9;O14920	.;.;.;.;IKKB_HUMAN	P	494;435;492;271	ENSP00000430684:L494P;ENSP00000404920:L435P;ENSP00000430868:L492P;ENSP00000369030:L271P	ENSP00000369030:L271P	L	+	2	0	IKBKB	42296061	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	1.057000	0.40506	0.460000	0.39030	CTG	IKBKB	-	NULL	ENSG00000104365		0.423	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKB	HGNC	protein_coding	OTTHUMT00000377214.1	-	0.00	35	0	T			42176904	+1	tier1	-	no_errors	ENST00000520810	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	C
IL37	27178	genome.wustl.edu	37	2	113670654	113670654	+	Missense_Mutation	SNP	C	C	T	rs550494451		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr2:113670654C>T	ENST00000263326.3	+	1	107	c.65C>T	c.(64-66)cCc>cTc	p.P22L	IL37_ENST00000349806.3_Missense_Mutation_p.P22L|IL37_ENST00000311328.2_5'Flank|IL37_ENST00000353225.3_Missense_Mutation_p.P22L|IL37_ENST00000352179.3_Missense_Mutation_p.P22L	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	22					immune response (GO:0006955)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	interleukin-1 receptor binding (GO:0005149)			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						AAAGATGAACCCCAGTGCTGC	0.453													c|||	1	0.000199681	0.0	0.0	5008	,	,		21027	0.0		0.0	False		,,,				2504	0.001																0													84.0	84.0	84.0					2																	113670654		2203	4300	6503	SO:0001583	missense	0			AF201832	CCDS2103.1, CCDS2104.1, CCDS2105.1, CCDS2106.1, CCDS2107.1	2q12-q14.1	2011-06-06	2011-06-06	2011-06-06	ENSG00000125571	ENSG00000125571		"""Interleukins and interleukin receptors"""	15563	protein-coding gene	gene with protein product	"""interleukin 1, zeta"", ""interleukin-1 homolog 4"", ""interleukin-1-related protein"""	605510	"""interleukin 1 family, member 7 (zeta)"""	IL1F7		10625660, 10512743, 12496389	Standard	NM_014439		Approved	FIL1, FIL1Z, FIL1(ZETA), IL-1H4, IL-1RP1, IL-1F7	uc002tij.3	Q9NZH6	OTTHUMG00000131345	ENST00000263326.3:c.65C>T	2.37:g.113670654C>T	ENSP00000263326:p.Pro22Leu		B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Missense_Mutation	SNP	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1,prints_IL-1RA/IL-36	p.P22L	ENST00000263326.3	37	c.65	CCDS2103.1	2	.	.	.	.	.	.	.	.	.	.	c	10.94	1.493336	0.26774	.	.	ENSG00000125571	ENST00000263326;ENST00000352179;ENST00000349806;ENST00000353225	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	2.91	0.0822	0.14428	.	.	.	.	.	T	0.53546	0.1803	L	0.47716	1.5	0.09310	N	1	B;P;P;P	0.51351	0.004;0.728;0.944;0.608	B;B;P;B	0.49853	0.003;0.349;0.624;0.19	T	0.46247	-0.9205	9	0.87932	D	0	-0.0881	5.3776	0.16174	0.0:0.5943:0.0:0.4057	.	22;22;22;22	Q9NZH6-5;Q9NZH6-3;Q9NZH6-4;Q9NZH6	.;.;.;IL37_HUMAN	L	22	ENSP00000263326:P22L;ENSP00000263327:P22L;ENSP00000263328:P22L;ENSP00000309208:P22L	ENSP00000263326:P22L	P	+	2	0	IL37	113387125	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.456000	0.06754	0.001000	0.14605	-0.258000	0.10820	CCC	IL37	-	NULL	ENSG00000125571		0.453	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL37	HGNC	protein_coding	OTTHUMT00000254126.1	-	0.00	82	0	C	NM_014439		113670654	+1	tier1	-	no_errors	ENST00000263326	ensembl	human	known	74_37	missense	27.38	61	23	SNP	0.000	T
INSRR	3645	genome.wustl.edu	37	1	156821495	156821495	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:156821495C>A	ENST00000368195.3	-	4	1423	c.1027G>T	c.(1027-1029)Gat>Tat	p.D343Y	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	343					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCACAAGATCCTGTGCCGCC	0.587																																																	0													116.0	90.0	99.0					1																	156821495		2203	4300	6503	SO:0001583	missense	0			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1027G>T	1.37:g.156821495C>A	ENSP00000357178:p.Asp343Tyr		O60724|Q5VZS3	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.D343Y	ENST00000368195.3	37	c.1027	CCDS1160.1	1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233446	0.39498	.	.	ENSG00000027644	ENST00000368195	D	0.81908	-1.55	4.72	4.72	0.59763	.	0.403035	0.20925	N	0.083208	T	0.75004	0.3791	.	.	.	0.39208	D	0.96327	P	0.44195	0.828	B	0.40101	0.319	T	0.80910	-0.1171	9	0.66056	D	0.02	.	16.386	0.83504	0.0:1.0:0.0:0.0	.	343	P14616	INSRR_HUMAN	Y	343	ENSP00000357178:D343Y	ENSP00000357178:D343Y	D	-	1	0	INSRR	155088119	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	3.476000	0.53143	2.435000	0.82474	0.462000	0.41574	GAT	INSRR	-	pirsf_Tyr_kinase_insulin-like_rcpt	ENSG00000027644		0.587	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSRR	HGNC	protein_coding	OTTHUMT00000098929.1	-	0.00	46	0	C	NM_014215		156821495	-1	tier1	-	no_errors	ENST00000368195	ensembl	human	known	74_37	missense	10.00	45	5	SNP	1.000	A
KCNA5	3741	genome.wustl.edu	37	12	5155081	5155081	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr12:5155081G>A	ENST00000252321.3	+	1	1997	c.1768G>A	c.(1768-1770)Gcc>Acc	p.A590T		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	590					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	TAACGTCAAGGCCAAGAGCAA	0.597																																																	0													40.0	40.0	40.0					12																	5155081		2203	4300	6503	SO:0001583	missense	0			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1768G>A	12.37:g.5155081G>A	ENSP00000252321:p.Ala590Thr		Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.A590T	ENST00000252321.3	37	c.1768	CCDS8536.1	12	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772307	0.49680	.	.	ENSG00000130037	ENST00000252321	D	0.97850	-4.57	5.5	5.5	0.81552	.	0.503425	0.16935	U	0.193540	D	0.96352	0.8810	L	0.57536	1.79	0.44694	D	0.997685	P	0.47762	0.9	B	0.43225	0.412	D	0.95381	0.8473	10	0.10636	T	0.68	.	18.3704	0.90405	0.0:0.0:1.0:0.0	.	590	P22460	KCNA5_HUMAN	T	590	ENSP00000252321:A590T	ENSP00000252321:A590T	A	+	1	0	KCNA5	5025342	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.321000	0.72881	2.596000	0.87737	0.561000	0.74099	GCC	KCNA5	-	prints_K_chnl_volt-dep_Kv1.5	ENSG00000130037		0.597	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	HGNC	protein_coding	OTTHUMT00000398925.2	-	0.00	56	0	G	NM_002234		5155081	+1	tier1	-	no_errors	ENST00000252321	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.998	A
KCNQ1	3784	genome.wustl.edu	37	11	2869032	2869032	+	Silent	SNP	C	C	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr11:2869032C>A	ENST00000155840.5	+	16	1938	c.1830C>A	c.(1828-1830)acC>acA	p.T610T	KCNQ1_ENST00000335475.5_Silent_p.T483T|KCNQ1-AS1_ENST00000440887.2_RNA|KCNQ1_ENST00000526095.1_3'UTR	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	610	Subunits assembly domain.				atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CACTCATCACCGACATGCTTC	0.677																																																	0													20.0	16.0	17.0					11																	2869032		2192	4297	6489	SO:0001819	synonymous_variant	0			AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1830C>A	11.37:g.2869032C>A			O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.T610	ENST00000155840.5	37	c.1830	CCDS7736.1	11																																																																																			KCNQ1	-	pfam_K_chnl_volt-dep_KCNQ_C,prints_K_chnl_volt-dep_KCQN1	ENSG00000053918		0.677	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ1	HGNC	protein_coding	OTTHUMT00000027382.2	-	0.00	31	0	C	NM_000218		2869032	+1	tier1	-	no_errors	ENST00000155840	ensembl	human	known	74_37	silent	22.50	31	9	SNP	0.257	A
KIAA1586	57691	genome.wustl.edu	37	6	56911670	56911670	+	Intron	SNP	C	C	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr6:56911670C>T	ENST00000370733.4	+	1	228				KIAA1586_ENST00000545356.1_Intron|KIAA1586_ENST00000488682.1_3'UTR	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586								nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GTCGCAGCCTCGGGGCGATAC	0.657																																																	0																																										SO:0001627	intron_variant	0			AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.21+96C>T	6.37:g.56911670C>T			A8K4M3|Q8IW25	RNA	SNP	-	NULL	ENST00000370733.4	37	NULL	CCDS34480.1	6																																																																																			KIAA1586	-	-	ENSG00000168116		0.657	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1586	HGNC	protein_coding	OTTHUMT00000041033.1	-	0.00	51	0	C	NM_020931		56911670	+1	tier1	-	no_errors	ENST00000488682	ensembl	human	known	74_37	rna	38.98	36	23	SNP	0.003	T
KIAA1598	57698	genome.wustl.edu	37	10	118689440	118689440	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr10:118689440T>A	ENST00000355371.4	-	10	1429	c.932A>T	c.(931-933)gAg>gTg	p.E311V	KIAA1598_ENST00000260777.10_Missense_Mutation_p.E311V|KIAA1598_ENST00000392903.2_Missense_Mutation_p.E311V|KIAA1598_ENST00000392901.4_Missense_Mutation_p.E251V|KIAA1598_ENST00000497044.1_5'UTR	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	311					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		CTCTAGAAGCTCCAGTTGCTG	0.328																																																	0													194.0	185.0	188.0					10																	118689440		2202	4298	6500	SO:0001583	missense	0			BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.932A>T	10.37:g.118689440T>A	ENSP00000347532:p.Glu311Val		A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Missense_Mutation	SNP	superfamily_Adenylate_cyclase-assoc_CAP_N	p.E311V	ENST00000355371.4	37	c.932	CCDS44482.1	10	.	.	.	.	.	.	.	.	.	.	T	19.12	3.765073	0.69878	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371;ENST00000392901	T;T;T;T	0.75477	1.48;1.48;1.48;-0.94	5.59	4.44	0.53790	.	0.095201	0.64402	D	0.000001	T	0.75184	0.3815	M	0.63843	1.955	0.43740	D	0.996239	P;B;P	0.48503	0.911;0.232;0.853	P;B;P	0.48704	0.587;0.315;0.584	T	0.75266	-0.3378	10	0.54805	T	0.06	-9.7812	9.4935	0.38974	0.0:0.0846:0.0:0.9154	.	311;311;281	A0MZ66;A0MZ66-2;A0MZ66-6	SHOT1_HUMAN;.;.	V	311;311;311;251	ENSP00000376636:E311V;ENSP00000260777:E311V;ENSP00000347532:E311V;ENSP00000376635:E251V	ENSP00000260777:E311V	E	-	2	0	KIAA1598	118679430	1.000000	0.71417	0.994000	0.49952	0.953000	0.61014	1.833000	0.39161	1.038000	0.40049	0.459000	0.35465	GAG	KIAA1598	-	NULL	ENSG00000187164		0.328	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1598	HGNC	protein_coding			0.00	62	0	T	NM_018330		118689440	-1			no_errors	ENST00000392903	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.999	A
KMT2A	4297	genome.wustl.edu	37	11	118375390	118375390	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr11:118375390T>A	ENST00000389506.5	+	27	8774	c.8774T>A	c.(8773-8775)cTa>cAa	p.L2925Q	KMT2A_ENST00000354520.4_Missense_Mutation_p.L2887Q|KMT2A_ENST00000534358.1_Missense_Mutation_p.L2928Q			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2925					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GAGTTGCCTCTAGAGCTACCA	0.493																																																	0													132.0	122.0	125.0					11																	118375390		2200	4295	6495	SO:0001583	missense	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.8774T>A	11.37:g.118375390T>A	ENSP00000374157:p.Leu2925Gln		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.L2925Q	ENST00000389506.5	37	c.8774	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	T	10.98	1.505171	0.26949	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.89681	-2.55;-2.55;-2.5	6.17	5.02	0.67125	.	0.072884	0.56097	N	0.000025	D	0.83852	0.5344	L	0.46157	1.445	0.21604	N	0.999627	P;P	0.37122	0.583;0.583	B;B	0.29942	0.109;0.109	T	0.76987	-0.2755	10	0.87932	D	0	.	12.7002	0.57026	0.1235:0.0:0.0:0.8765	.	2928;2925	E9PQG7;Q03164	.;MLL1_HUMAN	Q	2928;2925;2887;1835	ENSP00000436786:L2928Q;ENSP00000374157:L2925Q;ENSP00000346516:L2887Q	ENSP00000346516:L2887Q	L	+	2	0	MLL	117880600	0.989000	0.36119	0.017000	0.16124	0.980000	0.70556	7.698000	0.84413	1.097000	0.41459	0.533000	0.62120	CTA	KMT2A	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.493	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	HGNC	protein_coding	OTTHUMT00000399085.2	-	0.00	55	0	T	NM_005933		118375390	+1	tier1	-	no_errors	ENST00000389506	ensembl	human	known	74_37	missense	52.73	26	29	SNP	0.068	A
KMT2C	58508	genome.wustl.edu	37	7	152012301	152012301	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr7:152012301T>C	ENST00000262189.6	-	4	730	c.512A>G	c.(511-513)aAg>aGg	p.K171R	KMT2C_ENST00000355193.2_Missense_Mutation_p.K171R	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	171					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ATCAATGTCCTTCTTGTTAGA	0.388																																																	0													253.0	224.0	234.0					7																	152012301		2202	4300	6502	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.512A>G	7.37:g.152012301T>C	ENSP00000262189:p.Lys171Arg		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.K171R	ENST00000262189.6	37	c.512	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	T	13.27	2.186625	0.38609	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83914	-1.78;-1.78	5.78	4.64	0.57946	.	0.348481	0.20134	U	0.098524	T	0.67487	0.2898	L	0.27053	0.805	0.80722	D	1	B	0.15473	0.013	B	0.13407	0.009	T	0.55749	-0.8092	10	0.13108	T	0.6	.	4.2226	0.10565	0.0:0.2039:0.1729:0.6232	.	171	Q8NEZ4	MLL3_HUMAN	R	171	ENSP00000262189:K171R;ENSP00000347325:K171R	ENSP00000262189:K171R	K	-	2	0	MLL3	151643234	0.969000	0.33509	0.991000	0.47740	0.987000	0.75469	0.291000	0.18994	1.030000	0.39839	0.460000	0.39030	AAG	KMT2C	-	NULL	ENSG00000055609		0.388	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3	-	0.00	87	0	T			152012301	-1	tier1	-	no_errors	ENST00000355193	ensembl	human	known	74_37	missense	32.76	39	19	SNP	1.000	C
KNTC1	9735	genome.wustl.edu	37	12	123036167	123036167	+	Splice_Site	SNP	G	G	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr12:123036167G>T	ENST00000333479.7	+	16	1373		c.e16-1		KNTC1_ENST00000450485.2_Splice_Site	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1						mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CAACTTAACAGATTGAGTCGG	0.318																																																	0													122.0	111.0	114.0					12																	123036167		1824	4079	5903	SO:0001630	splice_region_variant	0				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.1197-1G>T	12.37:g.123036167G>T			A7E2C4|B3KSG2	Splice_Site	SNP	-	e15-1	ENST00000333479.7	37	c.1197-1	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429263	0.62844	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7462	0.62876	0.0735:0.0:0.9265:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KNTC1	121602120	1.000000	0.71417	0.992000	0.48379	0.792000	0.44763	8.757000	0.91657	2.608000	0.88229	0.478000	0.44815	.	KNTC1	-	-	ENSG00000184445		0.318	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	-	0.00	81	0	G		Intron	123036167	+1	tier1	-	no_errors	ENST00000333479	ensembl	human	known	74_37	splice_site	7.59	73	6	SNP	1.000	T
KRT13	3860	genome.wustl.edu	37	17	39659228	39659228	+	Silent	SNP	C	C	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:39659228C>T	ENST00000246635.3	-	4	904	c.858G>A	c.(856-858)gaG>gaA	p.E286E	KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000587544.1_Silent_p.E286E|KRT13_ENST00000336861.3_Silent_p.E286E|AC019349.5_ENST00000411759.1_RNA	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	286	Coil 2.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GGCGGTTCCTCTCTGCCATGG	0.647																																																	0													175.0	164.0	168.0					17																	39659228		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.858G>A	17.37:g.39659228C>T			Q53G54|Q6AZK5|Q8N240	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.E286	ENST00000246635.3	37	c.858	CCDS11396.1	17																																																																																			KRT13	-	pfam_IF,superfamily_Prefoldin	ENSG00000171401		0.647	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRT13	HGNC	protein_coding	OTTHUMT00000257297.1	-	0.00	45	0	C	NM_153490		39659228	-1	tier1	-	no_errors	ENST00000246635	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.816	T
LDLR	3949	genome.wustl.edu	37	19	11222262	11222262	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr19:11222262A>G	ENST00000558518.1	+	8	1320	c.1133A>G	c.(1132-1134)cAg>cGg	p.Q378R	LDLR_ENST00000558013.1_Missense_Mutation_p.Q378R|LDLR_ENST00000545707.1_Missense_Mutation_p.Q251R|LDLR_ENST00000557933.1_Missense_Mutation_p.Q378R|LDLR_ENST00000535915.1_Missense_Mutation_p.Q337R|LDLR_ENST00000455727.2_Missense_Mutation_p.Q210R	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	378	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	TACAAGTGCCAGTGTGAGGAA	0.632																																					GBM(18;201 575 7820 21545)												1	Unknown(1)	lung(1)	GRCh37	CM983962	LDLR	M							61.0	58.0	59.0					19																	11222262		2203	4300	6503	SO:0001583	missense	0			AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1133A>G	19.37:g.11222262A>G	ENSP00000454071:p.Gln378Arg		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,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.Q378R	ENST00000558518.1	37	c.1133	CCDS12254.1	19	.	.	.	.	.	.	.	.	.	.	A	18.11	3.551260	0.65311	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.97529	-2.88;-4.42;-4.42	5.56	5.56	0.83823	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.196250	0.33057	N	0.005334	D	0.94608	0.8262	N	0.21545	0.675	0.37268	D	0.907271	B;B;B;B;B;B	0.21520	0.057;0.015;0.028;0.018;0.028;0.016	B;B;B;B;B;B	0.34452	0.054;0.183;0.132;0.132;0.132;0.132	D	0.93896	0.7184	10	0.87932	D	0	.	14.6943	0.69110	1.0:0.0:0.0:0.0	.	210;251;257;337;390;378	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	R	378;251;337;210	ENSP00000437639:Q251R;ENSP00000440520:Q337R;ENSP00000397829:Q210R	ENSP00000252444:Q378R	Q	+	2	0	LDLR	11083262	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	8.628000	0.90979	2.114000	0.64651	0.482000	0.46254	CAG	LDLR	-	pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000130164		0.632	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDLR	HGNC	protein_coding	OTTHUMT00000415973.2	-	0.00	47	0	A			11222262	+1	tier1	-	no_errors	ENST00000558518	ensembl	human	known	74_37	missense	15.00	34	6	SNP	1.000	G
LINC00273	649159	genome.wustl.edu	37	16	33961363	33961363	+	lincRNA	SNP	C	C	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr16:33961363C>T	ENST00000539813.1	-	0	1140				AC136932.1_ENST00000385251.1_RNA	NR_038368.1				long intergenic non-protein coding RNA 273											lung(1)	1						CGAGCGGTGGCTGTGCCAGGC	0.746																																																	0																																												0			AY587847		16p11.2	2013-06-03	2011-08-11	2011-08-11	ENSG00000256642	ENSG00000256642		"""Long non-coding RNAs"""	38595	other	unknown	"""non-protein coding RNA 273-1"""		"""non-protein coding RNA 273"""	NCRNA00273			Standard	NR_038368		Approved	TOP, NCRNA00273-1	uc021thl.1		OTTHUMG00000176379		16.37:g.33961363C>T				RNA	SNP	-	NULL	ENST00000539813.1	37	NULL		16	.	.	.	.	.	.	.	.	.	.	N	10.40	1.338673	0.24253	.	.	ENSG00000256642	ENST00000539813	.	.	.	0.95	-0.588	0.11687	.	.	.	.	.	T	0.21962	0.0529	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25813	-1.0121	4	.	.	.	.	3.813	0.08804	0.4216:0.5784:0.0:0.0	.	.	.	.	T	360	.	.	A	-	1	0	AC136932.2	33868864	0.005000	0.15991	0.004000	0.12327	0.049000	0.14656	-0.142000	0.10311	-0.098000	0.12285	0.398000	0.26397	GCC	LINC00273	-	-	ENSG00000256642		0.746	LINC00273-001	KNOWN	basic	lincRNA	LINC00273	HGNC	lincRNA	OTTHUMT00000431840.1	-	0.00	8	0	C	NR_038368		33961363	-1	tier1	-	no_errors	ENST00000539813	ensembl	human	known	74_37	rna	45.45	6	5	SNP	0.004	T
LOC101930127	101930127	genome.wustl.edu	37	11	134704	134704	+	RNA	SNP	G	G	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr11:134704G>A	ENST00000527297.1	+	0	235																											CGTAGGGTATGGGCCTAAATA	0.577																																																	0																																												0																															11.37:g.134704G>A				RNA	SNP	-	NULL	ENST00000527297.1	37	NULL		11																																																																																			LINC01001	-	-	ENSG00000230724		0.577	RP11-304M2.3-001	KNOWN	basic	antisense	LINC01001	HGNC	antisense	OTTHUMT00000384758.1	-	0.00	24	0	G			134704	-1	tier1	-	no_errors	ENST00000527683	ensembl	human	known	74_37	rna	18.75	13	3	SNP	0.141	A
NINJ2	4815	genome.wustl.edu	37	12	752415	752416	+	Intron	INS	-	-	T	rs148228349|rs560022147	byFrequency	TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr12:752415_752416insT	ENST00000305108.4	-	1	452				NINJ2_ENST00000433832.2_Intron|RP11-218M22.1_ENST00000318291.4_RNA|NINJ2_ENST00000537416.1_Intron|RP11-218M22.1_ENST00000543884.1_RNA|NINJ2_ENST00000542920.1_Intron|RP11-218M22.1_ENST00000537514.1_RNA	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2						nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|tissue regeneration (GO:0042246)	integral component of plasma membrane (GO:0005887)				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			TCCTGTGACCCTCAGCGACCCT	0.752													T|T|TT|insertion	116	0.0231629	0.0	0.0	5008	,	,		10805	0.1052		0.0	False		,,,				2504	0.0102																0																																										SO:0001627	intron_variant	0			AF205633	CCDS8505.1, CCDS73418.1	12p13	2008-08-05			ENSG00000171840	ENSG00000171840			7825	protein-coding gene	gene with protein product		607297				10627596	Standard	XM_005253689		Approved		uc001qil.3	Q9NZG7	OTTHUMG00000090311	ENST00000305108.4:c.171+20077->A	12.37:g.752416_752416dupT				RNA	INS	-	NULL	ENST00000305108.4	37	NULL	CCDS8505.1	12																																																																																			RP11-218M22.1	-	-	ENSG00000177406		0.752	NINJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100049716	Clone_based_vega_gene	protein_coding	OTTHUMT00000206673.2		0.00	10	0	-	NM_016533		752416	+1	tier1		no_errors	ENST00000318291	ensembl	human	known	74_37	rna	58.33	5	7	INS	0.030:0.002	T
CADM3	57863	genome.wustl.edu	37	1	159166613	159166613	+	Intron	DEL	T	T	-	rs533935187		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:159166613delT	ENST00000368125.4	+	7	939				CADM3_ENST00000368124.4_Intron|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CTCCCAGTTATTTTTTTTTTT	0.527											OREG0013913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	0			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.783-68T>-	1.37:g.159166613delT		1799	Q8IZQ9|Q9NVJ5|Q9UJP1	RNA	DEL	-	NULL	ENST00000368125.4	37	NULL	CCDS44251.1	1																																																																																			CTA-134P22.2	-	-	ENSG00000225670		0.527	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LOC100131825	Clone_based_vega_gene	protein_coding	OTTHUMT00000090330.1		0.00	26	0	T	NM_021189		159166613	-1	tier1		no_errors	ENST00000415675	ensembl	human	known	74_37	rna	23.53	13	4	DEL	0.000	-
LOC101927016	101927016	genome.wustl.edu	37	13	64321086	64321086	+	Silent	SNP	T	T	C			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr13:64321086T>C	ENST00000453638.2	+	1	153	c.153T>C	c.(151-153)ggT>ggC	p.G51G	RP11-473M10.3_ENST00000418943.1_lincRNA																endometrium(2)|lung(1)|urinary_tract(1)	4						atggctctggttatggctgtg	0.562																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000453638.2:c.153T>C	13.37:g.64321086T>C				Silent	SNP	NULL	p.G51	ENST00000453638.2	37	c.153		13																																																																																			AL445989.1	-	NULL	ENSG00000226974		0.562	AL445989.1-201	KNOWN	basic|appris_principal	protein_coding	LOC101927016	Clone_based_ensembl_gene	protein_coding		-	0.00	59	0	T			64321086	+1	tier1	-	no_errors	ENST00000453638	ensembl	human	known	74_37	silent	35.48	19	11	SNP	0.070	C
LRBA	987	genome.wustl.edu	37	4	151604788	151604788	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr4:151604788C>T	ENST00000357115.3	-	37	6079	c.5836G>A	c.(5836-5838)Gac>Aac	p.D1946N	LRBA_ENST00000510413.1_Missense_Mutation_p.D1946N|LRBA_ENST00000507224.1_Missense_Mutation_p.D1946N|LRBA_ENST00000535741.1_Missense_Mutation_p.D1946N	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1946						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GTCACGTGGTCACGATATTTT	0.413																																																	0													236.0	204.0	215.0					4																	151604788		2203	4300	6503	SO:0001583	missense	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5836G>A	4.37:g.151604788C>T	ENSP00000349629:p.Asp1946Asn		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.D1946N	ENST00000357115.3	37	c.5836	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.714353	0.96830	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.24	5.24	0.73138	Domain of unknown function DUF1088 (1);	0.000000	0.85682	D	0.000000	T	0.76335	0.3973	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.962	T	0.77156	-0.2691	10	0.54805	T	0.06	.	19.1737	0.93594	0.0:1.0:0.0:0.0	.	1946;1946	P50851;P50851-2	LRBA_HUMAN;.	N	1946	ENSP00000446299:D1946N;ENSP00000421552:D1946N;ENSP00000349629:D1946N;ENSP00000422180:D1946N	ENSP00000349629:D1946N	D	-	1	0	LRBA	151824238	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.622000	0.88805	0.585000	0.79938	GAC	LRBA	-	pfam_DUF1088	ENSG00000198589		0.413	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	-	0.00	89	0	C			151604788	-1	tier1	-	no_errors	ENST00000357115	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T
MACF1	23499	genome.wustl.edu	37	1	39797646	39797646	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:39797646G>A	ENST00000372915.3	+	36	5488	c.5401G>A	c.(5401-5403)Gac>Aac	p.D1801N	MACF1_ENST00000289893.4_Missense_Mutation_p.D236N|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.D1833N|MACF1_ENST00000564288.1_Missense_Mutation_p.D1796N|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1801					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)			TAATCTGATTGACCAAGATAT	0.478																																																	0													108.0	102.0	104.0					1																	39797646		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.5401G>A	1.37:g.39797646G>A	ENSP00000362006:p.Asp1801Asn		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.D1833N	ENST00000372915.3	37	c.5497		1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712572	0.68730	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.81247	-1.47;-1.47	5.48	5.48	0.80851	.	0.192552	0.35870	N	0.002931	D	0.89494	0.6731	M	0.75777	2.31	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	D	0.88586	0.3140	10	0.42905	T	0.14	.	19.351	0.94387	0.0:0.0:1.0:0.0	.	1801	Q9UPN3	MACF1_HUMAN	N	1801;236	ENSP00000362006:D1801N;ENSP00000289893:D236N	ENSP00000289893:D236N	D	+	1	0	MACF1	39570233	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.912000	0.87465	2.579000	0.87056	0.650000	0.86243	GAC	MACF1	-	pfam_Plectin_repeat,superfamily_RNaseH-like_dom,smart_Plectin_repeat	ENSG00000127603		0.478	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	-	0.00	31	0	G	NM_033044		39797646	+1	tier1	-	no_errors	ENST00000567887	ensembl	human	putative	74_37	missense	47.62	11	10	SNP	1.000	A
LRRC53	100144878	genome.wustl.edu	37	1	74945891	74945891	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:74945891T>G	ENST00000294635.4	-	3	964	c.850A>C	c.(850-852)Agt>Cgt	p.S284R	FPGT-TNNI3K_ENST00000557284.2_Intron|LRRC53_ENST00000416014.2_Missense_Mutation_p.S284R|TNNI3K_ENST00000370891.2_Intron|TNNI3K_ENST00000326637.3_Intron			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53	284						integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						AGGAGGGGACTTCTGTCCTTT	0.557																																																	0																																										SO:0001583	missense	0					1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.850A>C	1.37:g.74945891T>G	ENSP00000294635:p.Ser284Arg			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S284R	ENST00000294635.4	37	c.850		1	.	.	.	.	.	.	.	.	.	.	T	10.93	1.489783	0.26686	.	.	ENSG00000162621	ENST00000416014;ENST00000294635	T;T	0.49139	0.94;0.79	5.55	1.62	0.23740	.	0.808785	0.10926	N	0.618894	T	0.17534	0.0421	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27331	-1.0077	7	0.29301	T	0.29	-0.1202	6.1528	0.20320	0.0:0.1703:0.436:0.3937	.	.	.	.	R	284	ENSP00000391861:S284R;ENSP00000294635:S284R	ENSP00000294635:S284R	S	-	1	0	LRRC53	74718479	0.004000	0.15560	0.753000	0.31225	0.990000	0.78478	0.623000	0.24447	0.374000	0.24650	0.379000	0.24179	AGT	LRRC53	-	NULL	ENSG00000162621		0.557	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	LRRC53	HGNC	protein_coding	OTTHUMT00000026515.2	-	0.00	30	0	T			74945891	-1	tier1	-	no_errors	ENST00000294635	ensembl	human	novel	74_37	missense	20.00	16	4	SNP	0.089	G
MALT1	10892	genome.wustl.edu	37	18	56411668	56411668	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr18:56411668A>G	ENST00000348428.3	+	15	2110	c.1852A>G	c.(1852-1854)Ata>Gta	p.I618V	MALT1_ENST00000345724.3_Missense_Mutation_p.I607V|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	618					activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CTATACAAGTATAGTTTACAA	0.343			T	BIRC3	MALT																																			Dom	yes		18	18q21	10892	mucosa associated lymphoid tissue lymphoma translocation gene 1		L	0													172.0	164.0	167.0					18																	56411668		2203	4299	6502	SO:0001583	missense	0				CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.1852A>G	18.37:g.56411668A>G	ENSP00000319279:p.Ile618Val		Q9NTB7|Q9ULX4	Missense_Mutation	SNP	pfam_Pept_C14_caspase,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_DEATH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Pept_C14_ICE_p20,pfscan_Ig-like_dom	p.I618V	ENST00000348428.3	37	c.1852	CCDS11967.1	18	.	.	.	.	.	.	.	.	.	.	A	13.52	2.261571	0.39995	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.12255	2.71;2.7	5.22	4.05	0.47172	.	0.039248	0.85682	N	0.000000	T	0.23649	0.0572	L	0.47190	1.495	0.51233	D	0.999912	P;P	0.52316	0.952;0.92	P;P	0.59889	0.865;0.736	T	0.00875	-1.1531	10	0.30854	T	0.27	.	10.7705	0.46319	0.9241:0.0:0.0759:0.0	.	607;618	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	V	618;607	ENSP00000319279:I618V;ENSP00000304161:I607V	ENSP00000304161:I607V	I	+	1	0	MALT1	54562648	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	4.989000	0.63870	0.913000	0.36797	0.482000	0.46254	ATA	MALT1	-	NULL	ENSG00000172175		0.343	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MALT1	HGNC	protein_coding	OTTHUMT00000256132.2	-	0.00	73	0	A			56411668	+1	tier1	-	no_errors	ENST00000348428	ensembl	human	known	74_37	missense	31.51	50	23	SNP	1.000	G
MAPKBP1	23005	genome.wustl.edu	37	15	42114464	42114464	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr15:42114464T>C	ENST00000456763.2	+	27	3287	c.3091T>C	c.(3091-3093)Tca>Cca	p.S1031P	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.S1025P|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.S908P|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.S1025P|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.S864P	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1031										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TGGCATCTCCTCAGACCTTGA	0.617																																																	0													48.0	45.0	46.0					15																	42114464		2203	4300	6503	SO:0001583	missense	0			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.3091T>C	15.37:g.42114464T>C	ENSP00000393099:p.Ser1031Pro		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1031P	ENST00000456763.2	37	c.3091	CCDS45239.1	15	.	.	.	.	.	.	.	.	.	.	.	21.7	4.192477	0.78902	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.52295	0.95;1.0;0.67;1.0;1.06	4.91	4.91	0.64330	.	0.417365	0.26058	N	0.026581	T	0.56834	0.2012	L	0.29908	0.895	0.51233	D	0.999919	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.98;0.987;0.993	D;D;D;P;P;P	0.87578	0.998;0.998;0.997;0.773;0.762;0.854	T	0.59762	-0.7393	10	0.56958	D	0.05	-9.4211	14.3724	0.66849	0.0:0.0:0.0:1.0	.	864;908;864;1025;1031;1025	F8WC21;O60336-3;B4DYK7;O60336-2;O60336;O60336-6	.;.;.;.;MABP1_HUMAN;.	P	1025;908;864;1031;1025	ENSP00000397570:S1025P;ENSP00000221214:S908P;ENSP00000260357:S864P;ENSP00000393099:S1031P;ENSP00000426154:S1025P	ENSP00000221214:S908P	S	+	1	0	MAPKBP1	39901756	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.475000	0.66787	2.072000	0.62099	0.459000	0.35465	TCA	MAPKBP1	-	NULL	ENSG00000137802		0.617	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	MAPKBP1	HGNC	protein_coding	OTTHUMT00000359745.1		0.00	86	0	T	NM_014994		42114464	+1			no_errors	ENST00000456763	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	C
MARCO	8685	genome.wustl.edu	37	2	119739003	119739003	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr2:119739003G>A	ENST00000327097.4	+	9	920	c.785G>A	c.(784-786)gGc>gAc	p.G262D	MARCO_ENST00000541757.1_Missense_Mutation_p.G184D	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	262	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGGGACAGGGGCATGAAAGGA	0.567																																					GBM(8;18 374 7467 11269 32796)												0													39.0	38.0	39.0					2																	119739003		2203	4300	6503	SO:0001583	missense	0			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.785G>A	2.37:g.119739003G>A	ENSP00000318916:p.Gly262Asp		B4DW79|Q9Y5S3	Missense_Mutation	SNP	pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.G262D	ENST00000327097.4	37	c.785	CCDS2124.1	2	.	.	.	.	.	.	.	.	.	.	G	5.383	0.255936	0.10185	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.99353	-5.77;-5.52	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.99661	0.9874	H	0.98525	4.255	0.42482	D	0.992862	D	0.89917	1.0	D	0.97110	1.0	D	0.97558	1.0096	9	.	.	.	.	14.1644	0.65466	0.0:0.0:1.0:0.0	.	262	Q9UEW3	MARCO_HUMAN	D	262;262;184	ENSP00000318916:G262D;ENSP00000441769:G184D	.	G	+	2	0	MARCO	119455473	0.997000	0.39634	0.235000	0.24058	0.060000	0.15804	4.644000	0.61397	2.723000	0.93209	0.650000	0.86243	GGC	MARCO	-	NULL	ENSG00000019169		0.567	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCO	HGNC	protein_coding	OTTHUMT00000254190.2	-	0.00	73	0	G	NM_006770		119739003	+1	tier1	-	no_errors	ENST00000327097	ensembl	human	known	74_37	missense	40.79	45	31	SNP	0.477	A
MAZ	4150	genome.wustl.edu	37	16	29821507	29821507	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr16:29821507delG	ENST00000322945.6	+	5	1554	c.1389delG	c.(1387-1389)gagfs	p.E463fs	AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000563402.1_Frame_Shift_Del_p.G121fs|MAZ_ENST00000566906.2_Frame_Shift_Del_p.G119fs|PRRT2_ENST00000300797.6_5'Flank|PRRT2_ENST00000567659.1_5'Flank|MAZ_ENST00000545521.1_Frame_Shift_Del_p.E440fs|AC009133.20_ENST00000569039.1_RNA|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000219782.6_3'UTR|PRRT2_ENST00000358758.7_5'Flank|MAZ_ENST00000568544.1_Frame_Shift_Del_p.E64fs|MAZ_ENST00000562337.1_Frame_Shift_Del_p.E158fs|AC009133.14_ENST00000563806.1_RNA	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	463					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CGGGGGCGGAGGGGGTGCCTG	0.667																																					Colon(72;875 1167 15364 30899 37091)												0													9.0	12.0	11.0					16																	29821507		1933	4112	6045	SO:0001589	frameshift_variant	0			M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1389delG	16.37:g.29821507delG	ENSP00000313362:p.Glu463fs		A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V465fs	ENST00000322945.6	37	c.1389	CCDS42143.1	16																																																																																			MAZ	-	NULL	ENSG00000103495		0.667	MAZ-001	KNOWN	basic|CCDS	protein_coding	MAZ	HGNC	protein_coding	OTTHUMT00000435536.1		0.00	36	0	G	NM_002383		29821507	+1	tier1		no_errors	ENST00000322945	ensembl	human	known	74_37	frame_shift_del	7.41	25	2	DEL	1.000	-
TLN2	83660	genome.wustl.edu	37	15	63116186	63116186	+	Intron	SNP	T	T	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr15:63116186T>G	ENST00000561311.1	+	53	7232				MIR190A_ENST00000388402.1_RNA|TLN2_ENST00000306829.6_Intron			Q9Y4G6	TLN2_HUMAN	talin 2						cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GTTTGATATATTAGGTTGTTA	0.433																																																	0													61.0	57.0	58.0					15																	63116186		1568	3581	5149	SO:0001627	intron_variant	0			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.7002+3377T>G	15.37:g.63116186T>G			A6NLB8	RNA	SNP	-	NULL	ENST00000561311.1	37	NULL	CCDS32261.1	15																																																																																			MIR190A	-	-	ENSG00000211137		0.433	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR190A	HGNC	protein_coding	OTTHUMT00000257878.2	-	0.00	51	0	T			63116186	+1	tier1	-	no_errors	ENST00000388402	ensembl	human	known	74_37	rna	31.67	41	19	SNP	1.000	G
UMPS	7372	genome.wustl.edu	37	3	124451286	124451286	+	Intron	SNP	G	G	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr3:124451286G>A	ENST00000232607.2	+	1	262				UMPS_ENST00000413078.2_Intron|UMPS_ENST00000538242.1_Intron|UMPS_ENST00000536109.1_Intron|MIR544B_ENST00000582372.1_RNA	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase						'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	gaattacctgggaattttgtt	0.363																																																	0																																										SO:0001627	intron_variant	0				CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.156+1812G>A	3.37:g.124451286G>A			B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	RNA	SNP	-	NULL	ENST00000232607.2	37	NULL	CCDS3029.1	3																																																																																			MIR544B	-	-	ENSG00000265981		0.363	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR544B	HGNC	protein_coding	OTTHUMT00000355271.1	-	0.00	63	0	G	NM_000373		124451286	+1	tier1	-	no_errors	ENST00000582372	ensembl	human	known	74_37	rna	21.82	43	12	SNP	0.004	A
MMD	23531	genome.wustl.edu	37	17	53471788	53471788	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:53471788C>T	ENST00000262065.3	-	7	920	c.624G>A	c.(622-624)tgG>tgA	p.W208*		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	208					cytolysis (GO:0019835)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CAAACAGGTGCCAGATGGCGT	0.488																																																	0													112.0	103.0	106.0					17																	53471788		2203	4300	6503	SO:0001587	stop_gained	0			X85750	CCDS11586.1	17q	2008-05-02				ENSG00000108960			7153	protein-coding gene	gene with protein product		604467				7503749, 16044242	Standard	NM_012329		Approved	MMA, PAQR11	uc002iui.3	Q15546		ENST00000262065.3:c.624G>A	17.37:g.53471788C>T	ENSP00000262065:p.Trp208*		B2R6X9|D3DTY6|Q8TAN7	Nonsense_Mutation	SNP	pfam_HlyIII-related,tigrfam_HylIII	p.W208*	ENST00000262065.3	37	c.624	CCDS11586.1	17	.	.	.	.	.	.	.	.	.	.	C	38	6.897798	0.97920	.	.	ENSG00000108960	ENST00000262065	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-44.0008	19.6068	0.95584	0.0:1.0:0.0:0.0	.	.	.	.	X	208	.	ENSP00000262065:W208X	W	-	3	0	MMD	50826787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.811000	0.86092	2.876000	0.98609	0.643000	0.83706	TGG	MMD	-	pfam_HlyIII-related,tigrfam_HylIII	ENSG00000108960		0.488	MMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMD	HGNC	protein_coding	OTTHUMT00000439214.1		0.00	72	0	C			53471788	-1			no_errors	ENST00000262065	ensembl	human	known	74_37	nonsense	6.25	60	4	SNP	1.000	T
MTMR9	66036	genome.wustl.edu	37	8	11152762	11152762	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr8:11152762T>G	ENST00000221086.3	+	2	715	c.242T>G	c.(241-243)tTg>tGg	p.L81W	MTMR9_ENST00000526292.1_5'UTR	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	81						cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		ATTATTCAGTTGGATATTCCT	0.303																																																	0													149.0	162.0	158.0					8																	11152762		2203	4298	6501	SO:0001583	missense	0			AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.242T>G	8.37:g.11152762T>G	ENSP00000221086:p.Leu81Trp		B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom	p.L81W	ENST00000221086.3	37	c.242	CCDS5979.1	8	.	.	.	.	.	.	.	.	.	.	T	26.1	4.703343	0.88924	.	.	ENSG00000104643	ENST00000221086	D	0.85013	-1.93	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.92044	0.7479	M	0.80508	2.5	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.93019	0.6438	10	0.87932	D	0	.	14.6298	0.68647	0.0:0.0:0.0:1.0	.	81	Q96QG7	MTMR9_HUMAN	W	81	ENSP00000221086:L81W	ENSP00000221086:L81W	L	+	2	0	MTMR9	11190172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.695000	0.84257	2.324000	0.78689	0.533000	0.62120	TTG	MTMR9	-	NULL	ENSG00000104643		0.303	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR9	HGNC	protein_coding	OTTHUMT00000207307.2	-	0.00	83	0	T	NM_015458		11152762	+1	tier1	-	no_errors	ENST00000221086	ensembl	human	known	74_37	missense	10.61	59	7	SNP	1.000	G
MTUS1	57509	genome.wustl.edu	37	8	17504627	17504627	+	Intron	DEL	A	A	-	rs565891321|rs538935142	byFrequency	TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr8:17504627delA	ENST00000262102.6	-	14	3726				MTUS1_ENST00000400046.1_Intron|MTUS1_ENST00000544260.1_Intron|MTUS1_ENST00000381869.3_Intron|MTUS1_ENST00000297488.6_Intron|MTUS1_ENST00000519263.1_Intron|MTUS1_ENST00000518713.1_5'Flank|MTUS1_ENST00000381861.3_Intron	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1						cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		ATACAATATTAAAAAAAAAAC	0.333																																																	0													47.0	45.0	45.0					8																	17504627		1805	4071	5876	SO:0001627	intron_variant	0			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.3502-39T>-	8.37:g.17504627delA			A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	RNA	DEL	-	NULL	ENST00000262102.6	37	NULL	CCDS43717.1	8																																																																																			MTUS1	-	-	ENSG00000129422		0.333	MTUS1-001	KNOWN	basic|CCDS	protein_coding	MTUS1	HGNC	protein_coding	OTTHUMT00000375247.1		0.00	50	0	A	XM_372031		17504627	-1	tier1		no_errors	ENST00000518889	ensembl	human	putative	74_37	rna	7.32	38	3	DEL	0.000	-
MUC17	140453	genome.wustl.edu	37	7	100684551	100684551	+	Missense_Mutation	SNP	G	G	C	rs149757750	byFrequency	TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr7:100684551G>C	ENST00000306151.4	+	3	9918	c.9854G>C	c.(9853-9855)aGt>aCt	p.S3285T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3285	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCATTAACAAGTATGCCTGTC	0.512																																																	0													342.0	338.0	339.0					7																	100684551		2203	4300	6503	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9854G>C	7.37:g.100684551G>C	ENSP00000302716:p.Ser3285Thr		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.S3285T	ENST00000306151.4	37	c.9854	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	g	1.927	-0.446873	0.04572	.	.	ENSG00000169876	ENST00000306151	T	0.02280	4.36	1.46	-1.4	0.08968	.	.	.	.	.	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	P	0.42584	0.784	B	0.40825	0.341	T	0.35822	-0.9773	9	0.06757	T	0.87	.	4.8746	0.13650	0.0:0.5513:0.2664:0.1823	.	3285	Q685J3	MUC17_HUMAN	T	3285	ENSP00000302716:S3285T	ENSP00000302716:S3285T	S	+	2	0	MUC17	100471271	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.420000	0.01032	-0.363000	0.08101	0.196000	0.17591	AGT	MUC17	-	NULL	ENSG00000169876		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0.00	117	0	G	NM_001040105		100684551	+1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	11.94	117	16	SNP	0.000	C
MYNN	55892	genome.wustl.edu	37	3	169496700	169496700	+	Silent	SNP	A	A	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr3:169496700A>G	ENST00000349841.5	+	3	1074	c.411A>G	c.(409-411)gaA>gaG	p.E137E	RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000356716.4_Silent_p.E137E|MYNN_ENST00000392733.1_Silent_p.E137E|MYNN_ENST00000544106.1_Silent_p.E137E	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			GAAACATTGAATTGAATCAAC	0.343																																																	0													50.0	53.0	52.0					3																	169496700		2203	4300	6503	SO:0001819	synonymous_variant	0			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.411A>G	3.37:g.169496700A>G			B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E137	ENST00000349841.5	37	c.411	CCDS3207.1	3																																																																																			MYNN	-	NULL	ENSG00000085274		0.343	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYNN	HGNC	protein_coding	OTTHUMT00000467801.1	-	0.00	46	0	A	NM_018657		169496700	+1	tier1	-	no_errors	ENST00000349841	ensembl	human	known	74_37	silent	20.51	31	8	SNP	0.963	G
MYO9A	4649	genome.wustl.edu	37	15	72192087	72192087	+	Silent	SNP	T	T	C			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr15:72192087T>C	ENST00000356056.5	-	24	3883	c.3411A>G	c.(3409-3411)gaA>gaG	p.E1137E	MYO9A_ENST00000424560.1_Silent_p.E1137E|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Silent_p.E1118E|MYO9A_ENST00000564571.1_Silent_p.E1137E|MYO9A_ENST00000566885.1_Silent_p.E757E	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1137	IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTTCCTTTGTTCTTGGTACC	0.373																																																	0													85.0	81.0	82.0					15																	72192087		2199	4297	6496	SO:0001819	synonymous_variant	0			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.3411A>G	15.37:g.72192087T>C			B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.E1137	ENST00000356056.5	37	c.3411	CCDS10239.1	15																																																																																			MYO9A	-	superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000066933		0.373	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	-	0.00	38	0	T	NM_006901		72192087	-1	tier1	-	no_errors	ENST00000424560	ensembl	human	known	74_37	silent	33.33	18	9	SNP	0.011	C
NAA60	79903	genome.wustl.edu	37	16	3533571	3533571	+	Silent	SNP	C	C	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr16:3533571C>T	ENST00000407558.4	+	6	849	c.546C>T	c.(544-546)aaC>aaT	p.N182N	NAA60_ENST00000360862.5_Silent_p.N117N|NAA60_ENST00000421765.3_Intron|NAA60_ENST00000608722.1_Silent_p.N182N|NAA60_ENST00000572942.1_Intron|NAA60_ENST00000577013.1_Intron|NAA60_ENST00000576916.1_Intron|NAA60_ENST00000610180.1_Silent_p.N182N|NAA60_ENST00000414063.2_Silent_p.N182N|NAA60_ENST00000573580.1_Silent_p.N117N|NAA60_ENST00000570819.1_Intron|NAA60_ENST00000570551.1_3'UTR|NAA60_ENST00000424546.2_Silent_p.N189N|NAA60_ENST00000575076.1_Silent_p.N182N|NAA60_ENST00000608993.1_Silent_p.N117N|NAA60_ENST00000572584.1_Silent_p.N182N|LA16c-306E5.3_ENST00000574423.2_RNA			Q9H7X0	NAA60_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	182	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|histone H4 acetylation (GO:0043967)|N-terminal peptidyl-methionine acetylation (GO:0017196)|nucleosome assembly (GO:0006334)	Golgi membrane (GO:0000139)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						TCTACATCAACGGCGGCCACC	0.507																																																	0													106.0	105.0	105.0					16																	3533571		1943	4148	6091	SO:0001819	synonymous_variant	0				CCDS45396.1	16p13.3	2012-07-13	2011-08-02	2011-08-02	ENSG00000122390	ENSG00000122390	2.3.1.48, 2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	25875	protein-coding gene	gene with protein product		614246	"""N-acetyltransferase 15 (GCN5-related, putative)"""	NAT15		12975309, 21750686	Standard	NM_001083600		Approved	FLJ14154	uc010btm.3	Q9H7X0	OTTHUMG00000150268	ENST00000407558.4:c.546C>T	16.37:g.3533571C>T			B3KRQ0|B4DLZ0|B4DPZ8|B4DYC4|D3DUC2|E7EQ65|Q6IA31|Q6UX26	Silent	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.N182	ENST00000407558.4	37	c.546	CCDS45396.1	16																																																																																			NAA60	-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000122390		0.507	NAA60-001	KNOWN	NMD_exception|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NAA60	HGNC	protein_coding	OTTHUMT00000317235.2		0.00	53	0	C	NM_024845		3533571	+1			no_errors	ENST00000407558	ensembl	human	known	74_37	silent	5.45	52	3	SNP	0.461	T
NASP	4678	genome.wustl.edu	37	1	46073188	46073188	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:46073188C>G	ENST00000350030.3	+	6	692	c.605C>G	c.(604-606)aCt>aGt	p.T202S	NASP_ENST00000372052.4_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.T138S|NASP_ENST00000351223.3_Intron|NASP_ENST00000402363.3_Missense_Mutation_p.T204S	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	202	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)					GTTGACTTGACTCTAGATTGG	0.448																																																	0													50.0	53.0	52.0					1																	46073188		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.605C>G	1.37:g.46073188C>G	ENSP00000255120:p.Thr202Ser		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.T204S	ENST00000350030.3	37	c.611	CCDS524.1	1	.	.	.	.	.	.	.	.	.	.	C	6.007	0.369691	0.11352	.	.	ENSG00000132780	ENST00000527470;ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000470768	D;D;D;D	0.95069	-3.6;-3.6;-3.6;-3.6	5.05	-0.428	0.12306	.	1.127950	0.06324	N	0.704991	D	0.87861	0.6284	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B	0.11235	0.002;0.002;0.001;0.001;0.004	B;B;B;B;B	0.09377	0.003;0.004;0.002;0.001;0.003	T	0.74321	-0.3703	9	.	.	.	3.1866	4.5622	0.12166	0.1472:0.4867:0.0:0.366	.	138;202;102;202;204	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	S	138;138;204;102;202;165	ENSP00000438871:T138S;ENSP00000384529:T204S;ENSP00000255120:T202S;ENSP00000436924:T165S	.	T	+	2	0	NASP	45845775	0.000000	0.05858	0.001000	0.08648	0.747000	0.42532	-0.292000	0.08332	0.025000	0.15241	-0.355000	0.07637	ACT	NASP	-	NULL	ENSG00000132780		0.448	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NASP	HGNC	protein_coding	OTTHUMT00000021533.2	-	0.00	83	0	C	NM_002482		46073188	+1	tier1	-	no_errors	ENST00000402363	ensembl	human	known	74_37	missense	50.60	41	42	SNP	0.000	G
NCOA4	8031	genome.wustl.edu	37	10	51586352	51586352	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr10:51586352T>C	ENST00000443446.1	+	9	2009	c.1780T>C	c.(1780-1782)Ttt>Ctt	p.F594L	NCOA4_ENST00000452682.1_Missense_Mutation_p.F610L|NCOA4_ENST00000374087.4_Missense_Mutation_p.F594L|NCOA4_ENST00000438493.1_Missense_Mutation_p.F610L|NCOA4_ENST00000344348.6_Missense_Mutation_p.F594L|NCOA4_ENST00000430396.2_Missense_Mutation_p.F494L|NCOA4_ENST00000374082.1_Silent_p.S548S|NCOA4_ENST00000414907.2_Missense_Mutation_p.F428L	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	594					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TTGTGATCTCTTTGCCTGTAT	0.408			T	RET	papillary thyroid																																			Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	0													145.0	142.0	143.0					10																	51586352		2203	4300	6503	SO:0001583	missense	0			L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1780T>C	10.37:g.51586352T>C	ENSP00000390713:p.Phe594Leu		A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	pfam_ARA70	p.F610L	ENST00000443446.1	37	c.1828	CCDS7237.1	10	.	.	.	.	.	.	.	.	.	.	T	35	5.422500	0.96111	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000330923;ENST00000414907;ENST00000344348;ENST00000443446	T;T;T;T;T;T;T	0.44881	1.48;1.41;1.2;1.51;0.91;1.51;1.51	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	M	0.68593	2.085	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.994;0.994;0.994	T	0.56920	-0.7899	10	0.19590	T	0.45	-7.5609	16.4622	0.84064	0.0:0.0:0.0:1.0	.	494;610;610;594	B4DF87;B4E260;E9PAV7;Q13772	.;.;.;NCOA4_HUMAN	L	610;610;494;594;267;428;594;594	ENSP00000405146:F610L;ENSP00000395465:F610L;ENSP00000393053:F494L;ENSP00000363200:F594L;ENSP00000411018:F428L;ENSP00000344552:F594L;ENSP00000390713:F594L	ENSP00000332421:F267L	F	+	1	0	NCOA4	51256358	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.172000	0.77604	2.289000	0.77006	0.533000	0.62120	TTT	NCOA4	-	NULL	ENSG00000138293		0.408	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA4	HGNC	protein_coding	OTTHUMT00000048052.1	-	0.00	77	0	T	NM_005437		51586352	+1	tier1	-	no_errors	ENST00000452682	ensembl	human	known	74_37	missense	30.30	46	20	SNP	1.000	C
NECAB3	63941	genome.wustl.edu	37	20	32247407	32247407	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr20:32247407G>C	ENST00000246190.6	-	8	830	c.775C>G	c.(775-777)Cca>Gca	p.P259A	NECAB3_ENST00000606525.1_Intron|RP1-63M2.6_ENST00000607224.1_RNA|NECAB3_ENST00000375238.4_Intron|C20orf144_ENST00000375222.3_5'Flank	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	259					protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						CCTGGCTCTGGTGGATACCAG	0.692																																																	0													10.0	13.0	12.0					20																	32247407		1887	4089	5976	SO:0001583	missense	0			AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	15851	protein-coding gene	gene with protein product	"""EF-hand calcium binding protein 3"""	612478	"""amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"""	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.775C>G	20.37:g.32247407G>C	ENSP00000246190:p.Pro259Ala		A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Missense_Mutation	SNP	pfam_Antibiotic_mOase,pfam_EF_hand_dom,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom	p.P259A	ENST00000246190.6	37	c.775	CCDS42866.1	20	.	.	.	.	.	.	.	.	.	.	G	0.040	-1.286893	0.01387	.	.	ENSG00000125967	ENST00000246190	T	0.14144	2.53	4.15	-0.378	0.12497	.	2.390750	0.01975	N	0.044392	T	0.07458	0.0188	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.30208	-0.9986	9	.	.	.	-5.9231	6.693	0.23183	0.4643:0.0:0.5357:0.0	.	259	Q96P71	NECA3_HUMAN	A	259	ENSP00000246190:P259A	.	P	-	1	0	NECAB3	31711068	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.521000	0.06245	-0.119000	0.11830	0.462000	0.41574	CCA	NECAB3	-	NULL	ENSG00000125967		0.692	NECAB3-010	KNOWN	basic|CCDS	protein_coding	NECAB3	HGNC	protein_coding	OTTHUMT00000078724.2	-	0.00	117	0	G			32247407	-1	tier1	-	no_errors	ENST00000246190	ensembl	human	known	74_37	missense	31.03	60	27	SNP	0.000	C
NOL4	8715	genome.wustl.edu	37	18	31523144	31523145	+	Splice_Site	INS	-	-	A	rs530792420		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr18:31523144_31523145insA	ENST00000261592.5	-	9	1726		c.e9-2		NOL4_ENST00000538587.1_Splice_Site|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535475.1_Splice_Site|NOL4_ENST00000535384.1_Splice_Site|NOL4_ENST00000269185.4_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4							nucleolus (GO:0005730)	RNA binding (GO:0003723)	p.?(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AGGTCGAGACTAAAAAAAAAAA	0.406																																																	2	Unknown(2)	ovary(1)|lung(1)																																								SO:0001630	splice_region_variant	0			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1429-2->T	18.37:g.31523155_31523155dupA			B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Splice_Site	INS	-	e9-2	ENST00000261592.5	37	c.1429-3_1429-2	CCDS11907.2	18																																																																																			NOL4	-	-	ENSG00000101746		0.406	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL4	HGNC	protein_coding	OTTHUMT00000255386.1		0.00	27	0	-	NM_003787	Intron	31523145	-1	tier1		no_errors	ENST00000261592	ensembl	human	known	74_37	splice_site_ins	13.33	13	2	INS	1.000:1.000	A
NOP9	161424	genome.wustl.edu	37	14	24769638	24769638	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr14:24769638A>G	ENST00000267425.3	+	2	365	c.272A>G	c.(271-273)aAg>aGg	p.K91R	DHRS1_ENST00000288111.7_5'Flank|NOP9_ENST00000396802.3_Missense_Mutation_p.K91R|DHRS1_ENST00000396813.1_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	91							poly(A) RNA binding (GO:0044822)										AATATAATGAAGGAAGTAGAG	0.463																																																	0													71.0	62.0	65.0					14																	24769638		2202	4300	6502	SO:0001583	missense	0				CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.272A>G	14.37:g.24769638A>G	ENSP00000267425:p.Lys91Arg		A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt	p.K91R	ENST00000267425.3	37	c.272	CCDS9624.1	14	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056037	0.76074	.	.	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.13901	2.55;2.55	5.05	5.05	0.67936	Armadillo-like helical (1);Armadillo-type fold (1);	0.265343	0.36628	N	0.002487	T	0.24353	0.0590	L	0.51422	1.61	0.31530	N	0.661297	D	0.54964	0.969	P	0.55011	0.766	T	0.07790	-1.0754	10	0.38643	T	0.18	-4.8702	13.9136	0.63883	1.0:0.0:0.0:0.0	.	91	Q86U38	CN021_HUMAN	R	91	ENSP00000267425:K91R;ENSP00000380020:K91R	ENSP00000267425:K91R	K	+	2	0	C14orf21	23839478	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	3.197000	0.51028	2.113000	0.64589	0.533000	0.62120	AAG	NOP9	-	superfamily_ARM-type_fold	ENSG00000196943		0.463	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP9	HGNC	protein_coding	OTTHUMT00000073186.2	-	0.00	84	0	A			24769638	+1	tier1	-	no_errors	ENST00000267425	ensembl	human	known	74_37	missense	43.40	30	23	SNP	0.999	G
OR10X1	128367	genome.wustl.edu	37	1	158549594	158549594	+	Silent	SNP	G	G	C			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:158549594G>C	ENST00000368150.1	-	1	95	c.96C>G	c.(94-96)ggC>ggG	p.G32G		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ACACAGAAAAGCCAACAAGAA	0.368																																																	0													123.0	121.0	122.0					1																	158549594		2203	4300	6503	SO:0001819	synonymous_variant	0			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.96C>G	1.37:g.158549594G>C			Q6IFR8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G32	ENST00000368150.1	37	c.96	CCDS30900.1	1																																																																																			OR10X1	-	NULL	ENSG00000186400		0.368	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10X1	HGNC	protein_coding	OTTHUMT00000051850.2	-	0.00	55	0	G	NM_001004477		158549594	-1	tier1	-	no_errors	ENST00000368150	ensembl	human	known	74_37	silent	22.22	35	10	SNP	0.999	C
OR13C3	138803	genome.wustl.edu	37	9	107298655	107298655	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr9:107298655A>T	ENST00000374781.2	-	1	482	c.440T>A	c.(439-441)aTg>aAg	p.M147K		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AAATGCCATCATGCCAAGAAG	0.463																																					GBM(86;1248 1274 14222 15028 46219)												0													229.0	196.0	207.0					9																	107298655		2203	4300	6503	SO:0001583	missense	0				CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.440T>A	9.37:g.107298655A>T	ENSP00000363913:p.Met147Lys		Q5VVG1|Q6IF52	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M147K	ENST00000374781.2	37	c.440	CCDS35089.1	9	.	.	.	.	.	.	.	.	.	.	A	15.68	2.906209	0.52333	.	.	ENSG00000204246	ENST00000374781	T	0.01933	4.55	4.72	4.72	0.59763	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.05318	0.0141	M	0.73962	2.25	0.32537	N	0.534216	P	0.50819	0.939	B	0.44044	0.439	T	0.05386	-1.0888	10	0.87932	D	0	.	12.4646	0.55751	1.0:0.0:0.0:0.0	.	147	Q8NGS6	O13C3_HUMAN	K	147	ENSP00000363913:M147K	ENSP00000363913:M147K	M	-	2	0	OR13C3	106338476	0.002000	0.14202	1.000000	0.80357	0.637000	0.38172	1.985000	0.40668	2.110000	0.64415	0.482000	0.46254	ATG	OR13C3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000204246		0.463	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C3	HGNC	protein_coding	OTTHUMT00000053477.2	-	0.00	89	0	A			107298655	-1	tier1	-	no_errors	ENST00000374781	ensembl	human	known	74_37	missense	63.49	23	40	SNP	0.980	T
OR2A5	393046	genome.wustl.edu	37	7	143747992	143747992	+	Silent	SNP	G	G	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr7:143747992G>T	ENST00000408906.2	+	1	532	c.498G>T	c.(496-498)ctG>ctT	p.L166L		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCCTGAGGCTGCCCTTCTGTG	0.547																																																	0													186.0	191.0	189.0					7																	143747992		2077	4236	6313	SO:0001819	synonymous_variant	0			U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.498G>T	7.37:g.143747992G>T			B9EGX2|O43885|O43888	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L166	ENST00000408906.2	37	c.498	CCDS43668.1	7																																																																																			OR2A5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000221836		0.547	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A5	HGNC	protein_coding	OTTHUMT00000349986.1	-	0.00	99	0	G			143747992	+1	tier1	-	no_errors	ENST00000408906	ensembl	human	known	74_37	silent	29.87	54	23	SNP	1.000	T
OR2W3	343171	genome.wustl.edu	37	1	248059198	248059198	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:248059198T>C	ENST00000360358.3	+	1	310	c.310T>C	c.(310-312)Ttc>Ctc	p.F104L	OR2W3_ENST00000537741.1_Missense_Mutation_p.F104L	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCTCTTCCTGTTCCTGGGTCT	0.552																																																	0													136.0	109.0	118.0					1																	248059198		2203	4300	6503	SO:0001583	missense	0			N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.310T>C	1.37:g.248059198T>C	ENSP00000353516:p.Phe104Leu		Q6IF06|Q8NG86	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F104L	ENST00000360358.3	37	c.310	CCDS31099.1	1	.	.	.	.	.	.	.	.	.	.	T	12.85	2.062274	0.36373	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.01388	4.95;4.95	5.28	4.15	0.48705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.02047	0.0064	L	0.58302	1.8	0.09310	N	1	B	0.32731	0.382	B	0.35607	0.206	T	0.42068	-0.9473	10	0.56958	D	0.05	.	4.2607	0.10739	0.1532:0.1495:0.0:0.6973	.	104	Q7Z3T1	OR2W3_HUMAN	L	104	ENSP00000445853:F104L;ENSP00000353516:F104L	ENSP00000353516:F104L	F	+	1	0	OR2W3	246125821	0.193000	0.23313	0.993000	0.49108	0.915000	0.54546	0.567000	0.23608	1.014000	0.39417	0.491000	0.48974	TTC	OR2W3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000238243		0.552	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2W3	HGNC	protein_coding	OTTHUMT00000096861.1	-	0.00	43	0	T	NM_001001957		248059198	+1	tier1	-	no_errors	ENST00000360358	ensembl	human	known	74_37	missense	12.77	41	6	SNP	0.007	C
OR4D10	390197	genome.wustl.edu	37	11	59245628	59245628	+	Silent	SNP	C	C	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr11:59245628C>T	ENST00000530162.1	+	1	783	c.726C>T	c.(724-726)tcC>tcT	p.S242S		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTGCACCTCCCACATCACTG	0.537																																																	0													178.0	159.0	165.0					11																	59245628		2201	4295	6496	SO:0001819	synonymous_variant	0			AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.726C>T	11.37:g.59245628C>T			B2RNH6	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S242	ENST00000530162.1	37	c.726	CCDS53636.1	11																																																																																			OR4D10	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000254466		0.537	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D10	HGNC	protein_coding	OTTHUMT00000394235.1		0.00	90	0	C	NM_001004705		59245628	+1			no_errors	ENST00000530162	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.812	T
PCDHA4	56144	genome.wustl.edu	37	5	140188700	140188700	+	Missense_Mutation	SNP	C	C	T	rs17844284		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr5:140188700C>T	ENST00000530339.1	+	1	1928	c.1928C>T	c.(1927-1929)cCg>cTg	p.P643L	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.P643L|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.P643L|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	643	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGACGCTCCGCGCCACCGC	0.687																																																	0													80.0	82.0	81.0					5																	140188700		2203	4300	6503	SO:0001583	missense	0			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1928C>T	5.37:g.140188700C>T	ENSP00000435300:p.Pro643Leu		O75285|Q2M253	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P643L	ENST00000530339.1	37	c.1928	CCDS54916.1	5	.	.	.	.	.	.	.	.	.	.	c	4.638	0.118527	0.08881	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.52057	0.68;0.68;0.68	4.08	4.08	0.47627	Cadherin (4);Cadherin-like (1);	0.386006	0.18675	U	0.134337	T	0.46405	0.1391	M	0.68593	2.085	0.09310	N	1	B;B;B	0.22414	0.059;0.04;0.069	B;B;B	0.33392	0.063;0.024;0.163	T	0.34104	-0.9842	10	0.22706	T	0.39	.	8.771	0.34733	0.1688:0.6676:0.1636:0.0	rs17844284	643;643;643	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	L	643	ENSP00000423470:P643L;ENSP00000349344:P643L;ENSP00000435300:P643L	ENSP00000349344:P643L	P	+	2	0	PCDHA4	140168884	.	.	0.024000	0.17045	0.020000	0.10135	.	.	2.006000	0.58801	0.484000	0.47621	CCG	PCDHA4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204967		0.687	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	HGNC	protein_coding	OTTHUMT00000372864.2		0.00	54	0	C	NM_018907		140188700	+1			no_errors	ENST00000530339	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.005	T
PCDHB15	56121	genome.wustl.edu	37	5	140627233	140627233	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr5:140627233C>T	ENST00000231173.3	+	1	2087	c.2087C>T	c.(2086-2088)tCg>tTg	p.S696L		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	696					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCATTGGCCTCGGTGTCTTCG	0.677																																																	0													98.0	101.0	100.0					5																	140627233		2202	4298	6500	SO:0001583	missense	0			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.2087C>T	5.37:g.140627233C>T	ENSP00000231173:p.Ser696Leu		Q8IUX5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S696L	ENST00000231173.3	37	c.2087	CCDS4257.1	5	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335415	0.41398	.	.	ENSG00000113248	ENST00000231173	T	0.07114	3.22	4.47	0.939	0.19506	.	.	.	.	.	T	0.09512	0.0234	M	0.62723	1.935	0.09310	N	1	D	0.53462	0.96	B	0.43623	0.425	T	0.26883	-1.0090	9	0.87932	D	0	.	2.8481	0.05549	0.0:0.3009:0.2437:0.4554	.	696	Q9Y5E8	PCDBF_HUMAN	L	696	ENSP00000231173:S696L	ENSP00000231173:S696L	S	+	2	0	PCDHB15	140607417	0.000000	0.05858	0.113000	0.21522	0.176000	0.22953	-1.164000	0.03135	0.419000	0.25927	0.549000	0.68633	TCG	PCDHB15	-	NULL	ENSG00000113248		0.677	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB15	HGNC	protein_coding	OTTHUMT00000251804.2		0.00	80	0	C	NM_018935		140627233	+1			no_errors	ENST00000231173	ensembl	human	known	74_37	missense	13.24	59	9	SNP	0.000	T
PCDHB15	56121	genome.wustl.edu	37	5	140627240	140627240	+	Silent	SNP	T	T	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr5:140627240T>G	ENST00000231173.3	+	1	2094	c.2094T>G	c.(2092-2094)tcT>tcG	p.S698S		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	698					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCGGTGTCTTCGCTCTTCC	0.682																																																	0													100.0	104.0	102.0					5																	140627240		2201	4298	6499	SO:0001819	synonymous_variant	0			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.2094T>G	5.37:g.140627240T>G			Q8IUX5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S698	ENST00000231173.3	37	c.2094	CCDS4257.1	5																																																																																			PCDHB15	-	NULL	ENSG00000113248		0.682	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB15	HGNC	protein_coding	OTTHUMT00000251804.2		0.00	82	0	T	NM_018935		140627240	+1			no_errors	ENST00000231173	ensembl	human	known	74_37	silent	12.12	58	8	SNP	0.357	G
PFDN5	5204	genome.wustl.edu	37	12	53690058	53690058	+	Splice_Site	SNP	C	C	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr12:53690058C>T	ENST00000551018.1	+	3	483	c.206C>T	c.(205-207)tCt>tTt	p.S69F	PFDN5_ENST00000351500.3_Intron|PFDN5_ENST00000550846.1_Intron|RP11-680A11.5_ENST00000550263.1_RNA|PFDN5_ENST00000334478.4_Splice_Site_p.S69F	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN	prefoldin subunit 5	69					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	transcription corepressor activity (GO:0003714)			kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						CTGACGAGTTCTGTATCCTTT	0.488																																																	0													81.0	75.0	77.0					12																	53690058		2203	4300	6503	SO:0001630	splice_region_variant	0			D89667	CCDS8853.1, CCDS8854.1	12q13.13	2008-05-14	2006-02-24						8869	protein-coding gene	gene with protein product		604899	"""prefoldin 5"""			9630229, 9792694	Standard	NM_002624		Approved	PFD5, MM-1	uc001scl.3	Q99471	OTTHUMG00000169675	ENST00000551018.1:c.207+1C>T	12.37:g.53690058C>T			A8K9A8|Q54AA8|Q9C083|Q9C084	Missense_Mutation	SNP	pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,tigrfam_PFD_alpha	p.S69F	ENST00000551018.1	37	c.206	CCDS8853.1	12	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005528	0.93287	.	.	ENSG00000123349	ENST00000551018;ENST00000334478	T;T	0.48201	0.82;0.82	5.32	5.32	0.75619	Prefoldin (1);Prefoldin subunit (1);	0.000000	0.85682	D	0.000000	T	0.75532	0.3862	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.81050	-0.1108	10	0.56958	D	0.05	.	14.87	0.70450	0.0:1.0:0.0:0.0	.	69	Q99471	PFD5_HUMAN	F	69	ENSP00000447942:S69F;ENSP00000334188:S69F	ENSP00000334188:S69F	S	+	2	0	PFDN5	51976325	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.236000	0.72339	2.675000	0.91044	0.462000	0.41574	TCT	PFDN5	-	pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,tigrfam_PFD_alpha	ENSG00000123349		0.488	PFDN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFDN5	HGNC	protein_coding	OTTHUMT00000405368.2	-	0.00	55	0	C		Missense_Mutation	53690058	+1	tier1	-	no_errors	ENST00000551018	ensembl	human	known	74_37	missense	27.50	29	11	SNP	1.000	T
PGAP2	27315	genome.wustl.edu	37	11	3845137	3845137	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr11:3845137A>G	ENST00000463452.2	+	3	273	c.190A>G	c.(190-192)Agc>Ggc	p.S64G	PGAP2_ENST00000396993.4_Missense_Mutation_p.E17G|PGAP2_ENST00000532017.1_3'UTR|PGAP2_ENST00000479072.1_5'UTR|PGAP2_ENST00000278243.4_Missense_Mutation_p.S125G|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000300730.6_Missense_Mutation_p.S121G|PGAP2_ENST00000396991.2_Missense_Mutation_p.S125G|PGAP2_ENST00000496834.2_5'UTR|PGAP2_ENST00000465307.2_Missense_Mutation_p.E67G|PGAP2_ENST00000396986.2_Missense_Mutation_p.S121G|PGAP2_ENST00000493547.2_Missense_Mutation_p.S64G	NM_001256240.1	NP_001243169.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	64					GPI anchor biosynthetic process (GO:0006506)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|signal transduction in response to DNA damage (GO:0042770)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						GCCCTCGGTGAGCTCAGCCAT	0.627																																																	0													72.0	75.0	74.0					11																	3845137		2201	4298	6499	SO:0001583	missense	0			AF159615	CCDS7747.1, CCDS44523.1, CCDS58112.1, CCDS58113.1, CCDS73244.1, CCDS73245.1	11p15.4	2014-01-31			ENSG00000148985	ENSG00000148985			17893	protein-coding gene	gene with protein product	"""FGF receptor activating protein 1"", ""cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)"""	615187	"""mental retardation, non-syndromic, autosomal recessive, 21"""	MRT21		10585768, 16407401, 23561846	Standard	NM_014489		Approved	FRAG1, CWH43-N	uc010qxw.3	Q9UHJ9	OTTHUMG00000012238	ENST00000463452.2:c.190A>G	11.37:g.3845137A>G	ENSP00000435223:p.Ser64Gly		E9PJG5|H7BXL9|Q6UC77|Q96G66|Q9UF01|Q9Y4N1	Missense_Mutation	SNP	pfam_Frag1/DRAM/Sfk1	p.S125G	ENST00000463452.2	37	c.373	CCDS58112.1	11	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	22.8|22.8|22.8	4.331903|4.331903|4.331903	0.81801|0.81801|0.81801	.|.|.	.|.|.	ENSG00000148985|ENSG00000148985|ENSG00000148985	ENST00000396993;ENST00000532523;ENST00000465307|ENST00000396986;ENST00000300730;ENST00000396991;ENST00000464261;ENST00000493547;ENST00000278243;ENST00000463452;ENST00000469307|ENST00000532535;ENST00000459679;ENST00000464906	.|T;T;T;T;T;T;T;T|.	.|0.80214|.	.|-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35|.	5.59|5.59|5.59	5.59|5.59|5.59	0.84812|0.84812|0.84812	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|.	0.79981|0.79981|.	0.4540|0.4540|.	M|M|M	0.90542|0.90542|0.90542	3.125|3.125|3.125	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D|D;D;D;D;D|.	0.89917|0.89917|.	1.0;0.999|0.972;0.965;1.0;0.999;0.965|.	D;D|P;P;D;D;P|.	0.74348|0.91635|.	0.983;0.915|0.866;0.885;0.999;0.996;0.885|.	D|D|.	0.83820|0.83820|.	0.0246|0.0246|.	7|10|.	.|0.54805|.	.|T|.	.|0.06|.	-20.8805|-20.8805|-20.8805	12.1615|12.1615|12.1615	0.54107|0.54107|0.54107	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	67;17|121;64;125;64;64|.	B7Z2X5;A8MZF5|A8MYS5;Q9UHJ9-3;Q9UHJ9;E9PJG5;Q9UHJ9-2|.	.;.|.;.;PGAP2_HUMAN;.;.|.	G|G|W	17;82;67|121;121;125;94;64;125;64;64|137;94;154	.|ENSP00000380183:S121G;ENSP00000300730:S121G;ENSP00000380188:S125G;ENSP00000434088:S94G;ENSP00000431851:S64G;ENSP00000278243:S125G;ENSP00000435223:S64G;ENSP00000434507:S64G|.	.|ENSP00000278243:S125G|.	E|S|X	+|+|+	2|1|3	0|0|0	PGAP2|PGAP2|PGAP2	3801713|3801713|3801713	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	8.367000|8.367000|8.367000	0.90113|0.90113|0.90113	2.115000|2.115000|2.115000	0.64714|0.64714|0.64714	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAG|AGC|TGA	PGAP2	-	pfam_Frag1/DRAM/Sfk1	ENSG00000148985		0.627	PGAP2-049	KNOWN	basic|CCDS	protein_coding	PGAP2	HGNC	protein_coding	OTTHUMT00000383260.1	-	0.00	18	0	A			3845137	+1	tier1	-	no_errors	ENST00000278243	ensembl	human	known	74_37	missense	27.78	13	5	SNP	1.000	G
PIK3C2G	5288	genome.wustl.edu	37	12	18552628	18552628	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr12:18552628A>G	ENST00000266497.5	+	14	2077	c.2039A>G	c.(2038-2040)tAt>tGt	p.Y680C	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.Y680C|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.Y721C			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	680	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTATGGTTTTATCGCTTCTAC	0.378																																																	0													91.0	90.0	91.0					12																	18552628		1819	4080	5899	SO:0001583	missense	0			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2039A>G	12.37:g.18552628A>G	ENSP00000266497:p.Tyr680Cys		A1L3U0	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.Y721C	ENST00000266497.5	37	c.2162	CCDS44839.1	12	.	.	.	.	.	.	.	.	.	.	A	17.58	3.424825	0.62733	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.65364	-0.15;-0.15;-0.15	4.73	4.73	0.59995	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.187721	0.36628	N	0.002498	T	0.72787	0.3504	L	0.46885	1.475	0.45690	D	0.998604	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.993;0.996	T	0.75593	-0.3264	10	0.72032	D	0.01	-22.3563	13.8306	0.63377	1.0:0.0:0.0:0.0	.	720;721;680	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	C	680;680;721	ENSP00000404845:Y680C;ENSP00000266497:Y680C;ENSP00000445381:Y721C	ENSP00000266497:Y680C	Y	+	2	0	PIK3C2G	18443895	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.816000	0.69222	2.114000	0.64651	0.477000	0.44152	TAT	PIK3C2G	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000139144		0.378	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	HGNC	protein_coding	OTTHUMT00000401316.1	-	0.00	56	0	A	NM_004570		18552628	+1	tier1	-	no_errors	ENST00000538779	ensembl	human	known	74_37	missense	31.94	49	23	SNP	1.000	G
PKP1	5317	genome.wustl.edu	37	1	201292259	201292259	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:201292259A>G	ENST00000352845.3	+	10	1685	c.1685A>G	c.(1684-1686)gAt>gGt	p.D562G	PKP1_ENST00000367324.3_Missense_Mutation_p.D541G|PKP1_ENST00000263946.3_Missense_Mutation_p.D562G			Q13835	PKP1_HUMAN	plakophilin 1	562					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						AGCAAGAAAGATGCTACCCTG	0.597																																																	0													147.0	140.0	142.0					1																	201292259		2203	4300	6503	SO:0001583	missense	0			X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"""Armadillo repeat containing"""	9023	protein-coding gene	gene with protein product	"""ectodermal dysplasia/skin fragility syndrome"""	601975	"""plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"""			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1685A>G	1.37:g.201292259A>G	ENSP00000295597:p.Asp562Gly		O00645|Q14CA0|Q15152	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.D562G	ENST00000352845.3	37	c.1685	CCDS30966.1	1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.099837	0.76983	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.74842	-0.88;-0.88;-0.88	5.19	5.19	0.71726	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81875	0.4915	L	0.56769	1.78	0.58432	D	0.999998	D;D;D	0.76494	0.984;0.998;0.999	P;D;D	0.68353	0.79;0.957;0.954	T	0.78593	-0.2144	10	0.19590	T	0.45	-6.1737	15.3324	0.74223	1.0:0.0:0.0:0.0	.	149;541;562	Q14BN3;Q13835-2;Q13835	.;.;PKP1_HUMAN	G	541;562;562	ENSP00000356293:D541G;ENSP00000263946:D562G;ENSP00000295597:D562G	ENSP00000263946:D562G	D	+	2	0	PKP1	199558882	1.000000	0.71417	0.891000	0.34965	0.978000	0.69477	6.958000	0.76025	2.078000	0.62432	0.482000	0.46254	GAT	PKP1	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000081277		0.597	PKP1-004	KNOWN	basic|CCDS	protein_coding	PKP1	HGNC	protein_coding	OTTHUMT00000086897.1	-	0.00	98	0	A	NM_000299		201292259	+1	tier1	-	no_errors	ENST00000263946	ensembl	human	known	74_37	missense	38.98	36	23	SNP	0.997	G
C10orf55	414236	genome.wustl.edu	37	10	75673298	75673298	+	Intron	DEL	A	A	-			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr10:75673298delA	ENST00000409178.1	-	3	268				PLAU_ENST00000372764.3_Splice_Site_p.G154fs|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000446342.1_Splice_Site_p.G137fs|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372762.4_Splice_Site_p.G118fs	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					GTCCTCCAGGAAAAAAGCCCT	0.517																																																	0													156.0	188.0	177.0					10																	75673298		2203	4300	6503	SO:0001627	intron_variant	0				CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-465T>-	10.37:g.75673298delA			Q3KRG4|Q8NAK4	Frame_Shift_Del	DEL	pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.K156fs	ENST00000409178.1	37	c.462	CCDS53541.1	10																																																																																			PLAU	-	superfamily_Kringle-like	ENSG00000122861		0.517	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAU	HGNC	protein_coding	OTTHUMT00000048746.1		0.00	35	0	A	NM_001001791		75673298	+1	tier1		no_errors	ENST00000372764	ensembl	human	known	74_37	frame_shift_del	8.33	22	2	DEL	0.431	-
PLEKHM2	23207	genome.wustl.edu	37	1	16053914	16053914	+	Silent	SNP	G	G	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:16053914G>A	ENST00000375799.3	+	9	1574	c.1347G>A	c.(1345-1347)ccG>ccA	p.P449P	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Silent_p.P429P	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	449					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CGGAGAGGCCGCCGCTTTGCG	0.637																																																	0													9.0	10.0	10.0					1																	16053914		1842	4079	5921	SO:0001819	synonymous_variant	0			AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.1347G>A	1.37:g.16053914G>A			O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Silent	SNP	pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run	p.P449	ENST00000375799.3	37	c.1347	CCDS44063.1	1																																																																																			PLEKHM2	-	NULL	ENSG00000116786		0.637	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM2	HGNC	protein_coding	OTTHUMT00000008463.1	-	0.00	49	0	G	NM_015164		16053914	+1	tier1	-	no_errors	ENST00000375799	ensembl	human	known	74_37	silent	51.61	15	16	SNP	0.001	A
PLXNB2	23654	genome.wustl.edu	37	22	50717349	50717349	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr22:50717349delA	ENST00000449103.1	-	28	4621	c.4481delT	c.(4480-4482)atcfs	p.I1495fs	PLXNB2_ENST00000359337.4_Frame_Shift_Del_p.I1495fs			O15031	PLXB2_HUMAN	plexin B2	1495					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGGTCAATGATCTTCTCCTT	0.647																																																	0													101.0	105.0	103.0					22																	50717349		2201	4297	6498	SO:0001589	frameshift_variant	0				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4481delT	22.37:g.50717349delA	ENSP00000409171:p.Ile1495fs		A6QRH0|Q7KZU3|Q9BSU7	Frame_Shift_Del	DEL	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,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.I1494fs	ENST00000449103.1	37	c.4481	CCDS43035.1	22																																																																																			PLXNB2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000196576		0.647	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3		0.00	44	0	A	NM_012401		50717349	-1	tier1		no_errors	ENST00000359337	ensembl	human	known	74_37	frame_shift_del	23.68	29	9	DEL	1.000	-
POLD3	10714	genome.wustl.edu	37	11	74324010	74324010	+	Missense_Mutation	SNP	A	A	G	rs142882622		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr11:74324010A>G	ENST00000263681.2	+	5	476	c.347A>G	c.(346-348)aAt>aGt	p.N116S	POLD3_ENST00000532497.1_Missense_Mutation_p.N10S|POLD3_ENST00000527458.1_Missense_Mutation_p.N77S	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	116					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|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)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					CCTCTGTTCAATACTGACTAT	0.438													A|||	1	0.000199681	0.0008	0.0	5008	,	,		21528	0.0		0.0	False		,,,				2504	0.0																0								A	SER/ASN	0,4400		0,0,2200	196.0	165.0	176.0		347	5.7	1.0	11	dbSNP_134	176	1,8585	1.2+/-3.3	0,1,4292	no	missense	POLD3	NM_006591.1	46	0,1,6492	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	116/467	74324010	1,12985	2200	4293	6493	SO:0001583	missense	0			D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"""DNA polymerases"""	20932	protein-coding gene	gene with protein product	"""DNA polymerase delta subunit p66"", ""Pol delta C subunit (p66)"", ""protein phosphatase 1, regulatory subunit 128"""	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.347A>G	11.37:g.74324010A>G	ENSP00000263681:p.Asn116Ser		B7ZAI6|Q32MZ9|Q32N00	Missense_Mutation	SNP	pfam_DNA_polymerase_subunit_Cdc27	p.N116S	ENST00000263681.2	37	c.347	CCDS8233.1	11	.	.	.	.	.	.	.	.	.	.	A	6.649	0.488156	0.12641	0.0	1.16E-4	ENSG00000077514	ENST00000528481;ENST00000263681;ENST00000527458;ENST00000532497;ENST00000538052;ENST00000530511;ENST00000531615	.	.	.	5.68	5.68	0.88126	.	0.223960	0.45126	D	0.000393	T	0.52948	0.1766	L	0.52364	1.645	0.43688	D	0.996132	B	0.23316	0.083	B	0.20384	0.029	T	0.49624	-0.8920	9	0.07644	T	0.81	-17.9153	13.8939	0.63757	1.0:0.0:0.0:0.0	.	116	Q15054	DPOD3_HUMAN	S	77;116;77;10;116;77;77	.	ENSP00000263681:N116S	N	+	2	0	POLD3	74001658	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.829000	0.48128	2.158000	0.67659	0.455000	0.32223	AAT	POLD3	-	pfam_DNA_polymerase_subunit_Cdc27	ENSG00000077514		0.438	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLD3	HGNC	protein_coding	OTTHUMT00000385376.1	-	0.00	37	0	A	NM_006591		74324010	+1	tier1	rs142882622	no_errors	ENST00000263681	ensembl	human	known	74_37	missense	25.00	26	9	SNP	1.000	G
POLQ	10721	genome.wustl.edu	37	3	121228891	121228891	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr3:121228891G>T	ENST00000264233.5	-	11	1939	c.1811C>A	c.(1810-1812)aCa>aAa	p.T604K		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	604					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)		CTTACCTTCTGTTCCATCACT	0.408								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													135.0	123.0	127.0					3																	121228891		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.1811C>A	3.37:g.121228891G>T	ENSP00000264233:p.Thr604Lys		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.T604K	ENST00000264233.5	37	c.1811	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	7.504	0.653234	0.14580	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.47528	0.84	4.67	-0.662	0.11413	.	0.476298	0.19296	N	0.117767	T	0.24699	0.0599	L	0.29908	0.895	0.09310	N	0.999998	B	0.16166	0.016	B	0.20184	0.028	T	0.11372	-1.0590	10	0.13108	T	0.6	.	1.5791	0.02630	0.19:0.3008:0.3051:0.2041	.	604	O75417	DPOLQ_HUMAN	K	227;604;740	ENSP00000264233:T604K	ENSP00000264233:T604K	T	-	2	0	POLQ	122711581	0.032000	0.19561	0.989000	0.46669	0.971000	0.66376	0.310000	0.19356	-0.064000	0.13043	-0.515000	0.04445	ACA	POLQ	-	NULL	ENSG00000051341		0.408	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	-	0.00	59	0	G	NM_199420		121228891	-1	tier1	-	no_errors	ENST00000264233	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.009	T
PPEF1	5475	genome.wustl.edu	37	X	18845421	18845421	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chrX:18845421C>T	ENST00000361511.4	+	19	2272	c.1778C>T	c.(1777-1779)gCc>gTc	p.A593V	PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000349874.5_Missense_Mutation_p.A531V|PPEF1_ENST00000359763.6_Missense_Mutation_p.A540V|PPEF1_ENST00000544635.1_Missense_Mutation_p.A528V	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	593	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					GAATTTCGTGCCATGTGGAAA	0.413																																																	0													104.0	96.0	99.0					X																	18845421		2203	4300	6503	SO:0001583	missense	0			BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1778C>T	X.37:g.18845421C>T	ENSP00000354871:p.Ala593Val		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	pfam_PEstase_dom,pfam_EF_hand_dom,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_hand_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase	p.A593V	ENST00000361511.4	37	c.1778	CCDS14188.1	X	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729760	0.30684	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000544635;ENST00000470157	T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65	5.5	1.23	0.21249	EF-hand-like domain (1);	1.399950	0.04482	N	0.377888	T	0.55146	0.1902	N	0.19112	0.55	0.09310	N	0.999994	B;P;B	0.36909	0.279;0.573;0.328	B;B;B	0.34590	0.124;0.186;0.178	T	0.47394	-0.9121	10	0.30078	T	0.28	-0.0099	8.1811	0.31311	0.5154:0.3618:0.1229:0.0	.	531;593;565	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	V	593;540;531;528;55	ENSP00000354871:A593V;ENSP00000352806:A540V;ENSP00000341892:A531V;ENSP00000441289:A528V;ENSP00000419273:A55V	ENSP00000341892:A531V	A	+	2	0	PPEF1	18755342	0.974000	0.33945	0.466000	0.27168	0.333000	0.28666	2.457000	0.45005	0.478000	0.27488	0.591000	0.81541	GCC	PPEF1	-	pfam_EF_hand_dom,smart_EF_hand_dom,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_hand_dom	ENSG00000086717		0.413	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF1	HGNC	protein_coding	OTTHUMT00000055953.3		0.00	63	0	C	NM_006240		18845421	+1			no_errors	ENST00000361511	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.678	T
PPP1R12B	4660	genome.wustl.edu	37	1	202407189	202407190	+	Intron	INS	-	-	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:202407189_202407190insT	ENST00000608999.1	+	10	1611				RP11-175B9.2_ENST00000602961.1_RNA|PPP1R12B_ENST00000480184.1_Frame_Shift_Ins_p.V499fs|PPP1R12B_ENST00000336894.4_Intron|PPP1R12B_ENST00000356764.2_3'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCCAAGGCAGTTTTTTTTTTC	0.391																																																	0																																										SO:0001627	intron_variant	0			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1458+37->T	1.37:g.202407199_202407199dupT			A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.F503fs	ENST00000608999.1	37	c.1495_1496	CCDS1426.1	1																																																																																			PPP1R12B	-	NULL	ENSG00000077157		0.391	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3		0.00	49	0	-	NM_032105		202407190	+1	tier1		no_errors	ENST00000480184	ensembl	human	novel	74_37	frame_shift_ins	16.67	30	6	INS	0.085:0.041	T
PSMD3	5709	genome.wustl.edu	37	17	38151522	38151522	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:38151522G>A	ENST00000264639.4	+	8	1364	c.1190G>A	c.(1189-1191)cGg>cAg	p.R397Q	PSMD3_ENST00000541736.1_Missense_Mutation_p.R259Q	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	397	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.R397Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CTAATTATCCGGCTGCGGCAC	0.547																																					Ovarian(186;531 2051 6385 19668 48409)												1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											159.0	154.0	156.0					17																	38151522		2203	4300	6503	SO:0001583	missense	0			D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"""Proteasome (prosome, macropain) subunits"""	9560	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 2"""	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.1190G>A	17.37:g.38151522G>A	ENSP00000264639:p.Arg397Gln		B3KMW9|B4DT72|Q96EI2|Q9BQA4	Missense_Mutation	SNP	pfam_26S_Psome_reg_C,pfam_PCI_dom,smart_PAM,smart_PCI_dom	p.R397Q	ENST00000264639.4	37	c.1190	CCDS11356.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.174538	0.94807	.	.	ENSG00000108344	ENST00000264639;ENST00000415039;ENST00000541736	T;T	0.29397	1.57;1.57	5.17	4.2	0.49525	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.121321	0.56097	D	0.000026	T	0.54351	0.1853	M	0.76433	2.335	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.59563	-0.7431	10	0.72032	D	0.01	-7.8285	12.9348	0.58307	0.0796:0.0:0.9204:0.0	.	397	O43242	PSMD3_HUMAN	Q	397;384;259	ENSP00000264639:R397Q;ENSP00000442508:R259Q	ENSP00000264639:R397Q	R	+	2	0	PSMD3	35405048	1.000000	0.71417	0.957000	0.39632	0.958000	0.62258	7.641000	0.83368	1.409000	0.46915	0.655000	0.94253	CGG	PSMD3	-	pfam_PCI_dom,smart_PCI_dom	ENSG00000108344		0.547	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD3	HGNC	protein_coding	OTTHUMT00000257018.1	-	0.00	43	0	G	NM_002809		38151522	+1	tier1	-	no_errors	ENST00000264639	ensembl	human	known	74_37	missense	26.32	28	10	SNP	0.999	A
PTCHD1	139411	genome.wustl.edu	37	X	23397967	23397967	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chrX:23397967A>G	ENST00000379361.4	+	2	1471	c.611A>G	c.(610-612)aAa>aGa	p.K204R		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	204					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GACCGGGTGAAATCTGCAGAG	0.537																																																	0													142.0	131.0	134.0					X																	23397967		2203	4300	6503	SO:0001583	missense	0			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.611A>G	X.37:g.23397967A>G	ENSP00000368666:p.Lys204Arg		B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.K204R	ENST00000379361.4	37	c.611	CCDS35215.2	X	.	.	.	.	.	.	.	.	.	.	A	11.62	1.692504	0.30052	.	.	ENSG00000165186	ENST00000379361	D	0.85629	-2.01	4.86	4.86	0.63082	.	0.053328	0.64402	D	0.000001	T	0.73305	0.3570	N	0.04805	-0.155	0.31558	N	0.657878	B;B	0.26775	0.159;0.003	B;B	0.36666	0.23;0.012	T	0.70568	-0.4836	10	0.16896	T	0.51	.	13.8052	0.63225	1.0:0.0:0.0:0.0	.	99;204	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	R	204	ENSP00000368666:K204R	ENSP00000368666:K204R	K	+	2	0	PTCHD1	23307888	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.573000	0.67417	1.903000	0.55091	0.486000	0.48141	AAA	PTCHD1	-	pfam_Patched	ENSG00000165186		0.537	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD1	HGNC	protein_coding	OTTHUMT00000056047.2	-	0.00	37	0	A	NM_173495		23397967	+1	tier1	-	no_errors	ENST00000379361	ensembl	human	known	74_37	missense	54.05	17	20	SNP	1.000	G
PTEN	5728	genome.wustl.edu	37	10	89653835	89653835	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr10:89653835delG	ENST00000371953.3	+	2	1490	c.133delG	c.(133-135)gtafs	p.V45fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	45	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.V45fs*9(1)|p.G44fs*8(1)|p.G44fs*11(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACTTGAAGGCGTATACAGGAA	0.294		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	50	Whole gene deletion(37)|Unknown(8)|Deletion - Frameshift(4)|Complex - frameshift(1)	prostate(15)|central_nervous_system(8)|skin(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|endometrium(2)|breast(2)|soft_tissue(1)|urinary_tract(1)|NS(1)|kidney(1)											113.0	113.0	113.0					10																	89653835		2203	4296	6499	SO:0001589	frameshift_variant	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.133delG	10.37:g.89653835delG	ENSP00000361021:p.Val45fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.V45fs	ENST00000371953.3	37	c.133	CCDS31238.1	10																																																																																			PTEN	-	smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ	ENSG00000171862		0.294	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1		0.00	76	0	G	NM_000314		89653835	+1	tier1		no_errors	ENST00000371953	ensembl	human	known	74_37	frame_shift_del	49.12	29	28	DEL	1.000	-
PTPN3	5774	genome.wustl.edu	37	9	112219585	112219585	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr9:112219585G>A	ENST00000374541.2	-	3	337	c.233C>T	c.(232-234)tCc>tTc	p.S78F	PTPN3_ENST00000262539.3_5'UTR	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	78	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGAGTCCACGGAGTCGTCATC	0.418																																																	0													121.0	114.0	116.0					9																	112219585		2203	4300	6503	SO:0001583	missense	0				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.233C>T	9.37:g.112219585G>A	ENSP00000363667:p.Ser78Phe		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.S78F	ENST00000374541.2	37	c.233	CCDS6776.1	9	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206506	0.58343	.	.	ENSG00000070159	ENST00000394831;ENST00000374541	T	0.77877	-1.13	5.66	5.66	0.87406	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.534849	0.19431	N	0.114428	D	0.87055	0.6082	M	0.83223	2.63	0.80722	D	1	P;D;P	0.53462	0.564;0.96;0.708	P;P;P	0.54312	0.608;0.748;0.507	D	0.88180	0.2870	10	0.66056	D	0.02	.	19.335	0.94312	0.0:0.0:1.0:0.0	.	78;78;78	B7Z9V1;Q45VJ3;P26045	.;.;PTN3_HUMAN	F	78	ENSP00000363667:S78F	ENSP00000363667:S78F	S	-	2	0	PTPN3	111259406	1.000000	0.71417	0.033000	0.17914	0.456000	0.32438	4.204000	0.58460	2.681000	0.91329	0.462000	0.41574	TCC	PTPN3	-	pfam_FERM_N,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain	ENSG00000070159		0.418	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN3	HGNC	protein_coding	OTTHUMT00000053598.4	-	0.00	69	0	G			112219585	-1	tier1	-	no_errors	ENST00000374541	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.601	A
RASGRP1	10125	genome.wustl.edu	37	15	38798040	38798040	+	Splice_Site	SNP	C	C	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr15:38798040C>A	ENST00000310803.5	-	10	1501		c.e10+1		RP11-102L12.2_ENST00000560231.1_RNA|RASGRP1_ENST00000559830.1_Splice_Site|RASGRP1_ENST00000450598.2_Splice_Site|RASGRP1_ENST00000558164.1_Splice_Site|RASGRP1_ENST00000561180.1_Splice_Site|RASGRP1_ENST00000539159.1_Splice_Site	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)						activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		GAAAAACTCACTGGAGCTCTG	0.428																																																	0													90.0	89.0	89.0					15																	38798040		1845	4091	5936	SO:0001630	splice_region_variant	0			AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.1323+1G>T	15.37:g.38798040C>A			Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Splice_Site	SNP	-	e10+1	ENST00000310803.5	37	c.1323+1	CCDS45222.1	15	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159711	0.78226	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.383	0.87409	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RASGRP1	36585332	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.320000	0.79064	2.297000	0.77311	0.655000	0.94253	.	RASGRP1	-	-	ENSG00000172575		0.428	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRP1	HGNC	protein_coding	OTTHUMT00000418223.1	-	0.00	60	0	C	NM_005739	Intron	38798040	-1	tier1	-	no_errors	ENST00000310803	ensembl	human	known	74_37	splice_site	6.35	59	4	SNP	1.000	A
RBPJL	11317	genome.wustl.edu	37	20	43938331	43938331	+	Splice_Site	SNP	C	C	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr20:43938331C>T	ENST00000343694.3	+	3	328	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	MATN4_ENST00000342716.4_5'Flank|MATN4_ENST00000360607.6_5'Flank|RBPJL_ENST00000372743.1_Splice_Site_p.R86W|MATN4_ENST00000372751.4_5'Flank|MATN4_ENST00000537548.1_5'Flank|RBPJL_ENST00000372741.3_Splice_Site_p.R86W|MATN4_ENST00000353917.5_5'Flank	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	86					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				AAATGAGAAGCGGTAGGTGCC	0.597																																																	0													93.0	79.0	84.0					20																	43938331		2203	4300	6503	SO:0001630	splice_region_variant	0			AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.257+1C>T	20.37:g.43938331C>T			O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set	p.R86W	ENST00000343694.3	37	c.256	CCDS13349.1	20	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534567	0.64972	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	D;D;D	0.94457	-3.43;-3.43;-3.43	5.57	2.12	0.27331	LAG1, DNA binding (2);p53-like transcription factor, DNA-binding (1);	0.122741	0.53938	D	0.000056	D	0.96873	0.8979	M	0.82323	2.585	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.988	D	0.96931	0.9681	10	0.87932	D	0	-28.0573	13.6407	0.62249	0.5318:0.4681:0.0:0.0	.	86;86	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	W	86	ENSP00000361828:R86W;ENSP00000361826:R86W;ENSP00000341243:R86W	ENSP00000341243:R86W	R	+	1	2	RBPJL	43371745	0.972000	0.33761	1.000000	0.80357	0.681000	0.39784	0.093000	0.15086	0.672000	0.31204	0.462000	0.41574	CGG	RBPJL	-	pfam_LAG1_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000124232		0.597	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBPJL	HGNC	protein_coding	OTTHUMT00000080391.1	-	0.00	73	0	C	NM_014276	Missense_Mutation	43938331	+1	tier1	-	no_errors	ENST00000343694	ensembl	human	known	74_37	missense	19.67	49	12	SNP	1.000	T
RCSD1	92241	genome.wustl.edu	37	1	167666533	167666533	+	Silent	SNP	G	G	A	rs149253367		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:167666533G>A	ENST00000367854.3	+	6	1003	c.672G>A	c.(670-672)gcG>gcA	p.A224A	RCSD1_ENST00000537350.1_Silent_p.A194A	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	224					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					AGGGAGCAGCGGGAGAGGGAG	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17451	0.0		0.0	False		,,,				2504	0.0																0								G		4,4402	6.2+/-15.9	0,4,2199	63.0	65.0	64.0		672	-1.5	0.0	1	dbSNP_134	64	0,8600		0,0,4300	no	coding-synonymous	RCSD1	NM_052862.3		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		224/417	167666533	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	0			BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.672G>A	1.37:g.167666533G>A			B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Silent	SNP	pfam_RCSD	p.A224	ENST00000367854.3	37	c.672	CCDS1263.1	1																																																																																			RCSD1	-	NULL	ENSG00000198771		0.587	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RCSD1	HGNC	protein_coding	OTTHUMT00000085451.1	-	0.00	47	0	G	NM_052862		167666533	+1	tier1	rs149253367	no_errors	ENST00000367854	ensembl	human	known	74_37	silent	27.91	31	12	SNP	0.000	A
RFC1	5981	genome.wustl.edu	37	4	39306472	39306472	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr4:39306472T>A	ENST00000381897.1	-	15	2208	c.2075A>T	c.(2074-2076)gAg>gTg	p.E692V	RFC1_ENST00000349703.2_Missense_Mutation_p.E691V	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	692			E -> D (in dbSNP:rs11932767). {ECO:0000269|Ref.5}.		DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GTTCAGTGACTCAGCAACAAT	0.388																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)												0													257.0	266.0	263.0					4																	39306472		2203	4300	6503	SO:0001583	missense	0			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.2075A>T	4.37:g.39306472T>A	ENSP00000371321:p.Glu692Val		A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_P-loop_NTPase,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom	p.E692V	ENST00000381897.1	37	c.2075	CCDS56329.1	4	.	.	.	.	.	.	.	.	.	.	T	19.46	3.831951	0.71258	.	.	ENSG00000035928	ENST00000381897;ENST00000349703;ENST00000504554	T;T;T	0.49432	1.96;1.96;0.78	5.41	5.41	0.78517	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.68778	0.3038	M	0.75085	2.285	0.80722	D	1	P;D	0.89917	0.939;1.0	P;D	0.91635	0.833;0.999	T	0.72197	-0.4363	10	0.59425	D	0.04	-25.0317	15.4296	0.75081	0.0:0.0:0.0:1.0	.	692;691	P35251;P35251-2	RFC1_HUMAN;.	V	692;691;154	ENSP00000371321:E692V;ENSP00000261424:E691V;ENSP00000422129:E154V	ENSP00000261424:E691V	E	-	2	0	RFC1	38982867	1.000000	0.71417	0.957000	0.39632	0.331000	0.28603	6.148000	0.71788	2.051000	0.60960	0.459000	0.35465	GAG	RFC1	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu	ENSG00000035928		0.388	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFC1	HGNC	protein_coding	OTTHUMT00000216808.1	-	0.00	52	0	T	NM_002913		39306472	-1	tier1	-	no_errors	ENST00000381897	ensembl	human	known	74_37	missense	25.76	49	17	SNP	0.998	A
NEB	4703	genome.wustl.edu	37	2	152363626	152363627	+	Intron	INS	-	-	A	rs540894908	byFrequency	TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr2:152363626_152363627insA	ENST00000172853.10	-	135	18496				NEB_ENST00000603639.1_Intron|NEB_ENST00000604864.1_Intron|NEB_ENST00000409198.1_Intron|NEB_ENST00000427231.2_Intron|NEB_ENST00000397345.3_Intron|NEB_ENST00000509223.2_5'Flank|NEB_ENST00000498015.2_5'Flank			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTGTATCTTTAAAAAAAAGTC	0.262																																																	0																																										SO:0001627	intron_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.18349-99->T	2.37:g.152363634_152363634dupA			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	RNA	INS	-	NULL	ENST00000172853.10	37	NULL		2																																																																																			RIF1	-	-	ENSG00000080345		0.262	NEB-201	KNOWN	basic	protein_coding	RIF1	HGNC	protein_coding			0.00	17	0	-	NM_004543		152363627	+1	tier1		no_errors	ENST00000467762	ensembl	human	known	74_37	rna	11.76	15	2	INS	0.000:0.001	A
RNF213	57674	genome.wustl.edu	37	17	78319356	78319356	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:78319356G>T	ENST00000582970.1	+	29	7364	c.7221G>T	c.(7219-7221)gaG>gaT	p.E2407D	RNF213_ENST00000508628.2_Missense_Mutation_p.E2456D|RNF213_ENST00000336301.6_Missense_Mutation_p.E480D	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2407					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTGCCATCGAGATGCGGTTCC	0.532																																																	0													81.0	80.0	80.0					17																	78319356		2203	4300	6503	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.7221G>T	17.37:g.78319356G>T	ENSP00000464087:p.Glu2407Asp		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.E2407D	ENST00000582970.1	37	c.7221	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	5.246	0.230767	0.09969	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.41758	0.99	5.12	1.4	0.22301	.	0.131122	0.52532	D	0.000075	T	0.30885	0.0779	L	0.48362	1.52	0.27145	N	0.961566	P	0.38078	0.617	B	0.35312	0.2	T	0.12319	-1.0552	10	0.39692	T	0.17	.	8.4736	0.32999	0.4864:0.0:0.5135:0.0	.	480	Q63HN8	RN213_HUMAN	D	2407;2456;480	ENSP00000338218:E480D	ENSP00000338218:E480D	E	+	3	2	RNF213	75933951	1.000000	0.71417	0.997000	0.53966	0.075000	0.17131	1.698000	0.37794	0.198000	0.20407	-0.768000	0.03414	GAG	RNF213	-	superfamily_P-loop_NTPase	ENSG00000173821		0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1		0.00	99	0	G	NM_020914		78319356	+1			no_errors	ENST00000582970	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.993	T
RPS5	6193	genome.wustl.edu	37	19	58904399	58904399	+	Silent	SNP	G	G	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr19:58904399G>T	ENST00000596046.1	+	2	1014	c.165G>T	c.(163-165)cgG>cgT	p.R55R	RPS5_ENST00000601521.1_Silent_p.R55R|RPS5_ENST00000598495.1_Silent_p.R76R|RPS5_ENST00000598098.1_Intron|RPS5_ENST00000196551.3_Silent_p.R55R			P46782	RS5_HUMAN	ribosomal protein S5	55					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational fidelity (GO:0006450)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		GTGCAGGGCGGTATGCCGCCA	0.547																																																	0													52.0	42.0	46.0					19																	58904399		2203	4300	6503	SO:0001819	synonymous_variant	0			U14970	CCDS12978.1	19q13.4	2011-04-05				ENSG00000083845		"""S ribosomal proteins"""	10426	protein-coding gene	gene with protein product	"""40S ribosomal protein S5"""	603630				7772601, 9582194	Standard	NM_001009		Approved	S5	uc002qsn.3	P46782		ENST00000596046.1:c.165G>T	19.37:g.58904399G>T			B2R4T2|Q96BN0	Silent	SNP	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc	p.R55	ENST00000596046.1	37	c.165	CCDS12978.1	19																																																																																			RPS5	-	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc	ENSG00000083845		0.547	RPS5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPS5	HGNC	protein_coding	OTTHUMT00000467016.1	-	0.00	48	0	G	NM_001009		58904399	+1	tier1	-	no_errors	ENST00000196551	ensembl	human	known	74_37	silent	19.44	29	7	SNP	0.921	T
SEMA3D	223117	genome.wustl.edu	37	7	84694822	84694822	+	Silent	SNP	A	A	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr7:84694822A>G	ENST00000284136.6	-	6	679	c.636T>C	c.(634-636)gaT>gaC	p.D212D	SEMA3D_ENST00000444867.1_Silent_p.D212D	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	212	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.D212D(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGAATGCAGTATCTTTGCCAA	0.423																																					Ovarian(63;442 1191 17318 29975 31528)												1	Substitution - coding silent(1)	prostate(1)											133.0	117.0	122.0					7																	84694822		2203	4300	6503	SO:0001819	synonymous_variant	0			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.636T>C	7.37:g.84694822A>G			A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.D212	ENST00000284136.6	37	c.636	CCDS34676.1	7																																																																																			SEMA3D	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000153993		0.423	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3D	HGNC	protein_coding	OTTHUMT00000336084.2	-	0.00	61	0	A	NM_152754		84694822	-1	tier1	-	no_errors	ENST00000284136	ensembl	human	known	74_37	silent	23.08	30	9	SNP	0.870	G
SGSM2	9905	genome.wustl.edu	37	17	2266426	2266426	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:2266426G>A	ENST00000426855.2	+	6	845	c.670G>A	c.(670-672)Ggg>Agg	p.G224R	SGSM2_ENST00000268989.3_Missense_Mutation_p.G224R|SGSM2_ENST00000574563.1_Missense_Mutation_p.G224R	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	224					late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CCCAGCCCTGGGGGTAGGTGC	0.657																																																	0													16.0	17.0	17.0					17																	2266426		2198	4298	6496	SO:0001583	missense	0			BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.670G>A	17.37:g.2266426G>A	ENSP00000415107:p.Gly224Arg		A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Nonsense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.W251*	ENST00000426855.2	37	c.753	CCDS45570.1	17	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408102	0.42715	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.11712	2.75;2.75	5.93	4.97	0.65823	.	0.199661	0.53938	N	0.000057	T	0.20780	0.0500	L	0.54323	1.7	0.58432	D	0.999999	D;D;D	0.56968	0.978;0.975;0.977	P;P;P	0.58873	0.586;0.839;0.847	T	0.02358	-1.1171	10	0.25106	T	0.35	-17.7376	10.3574	0.43972	0.1478:0.0:0.8522:0.0	.	224;224;224	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	R	224	ENSP00000268989:G224R;ENSP00000415107:G224R	ENSP00000268989:G224R	G	+	1	0	SGSM2	2213176	1.000000	0.71417	0.962000	0.40283	0.027000	0.11550	3.797000	0.55514	1.540000	0.49301	0.650000	0.86243	GGG	SGSM2	-	NULL	ENSG00000141258		0.657	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM2	HGNC	protein_coding	OTTHUMT00000438186.1	-	0.00	36	0	G	NM_014853		2266426	+1	tier1	-	no_errors	ENST00000573062	ensembl	human	known	74_37	nonsense	33.33	14	7	SNP	0.999	A
SIRPB1	10326	genome.wustl.edu	37	20	1559180	1559180	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr20:1559180G>T	ENST00000381605.4	-	2	301	c.237C>A	c.(235-237)taC>taA	p.Y79*	SIRPB1_ENST00000381603.3_Nonsense_Mutation_p.Y79*|SIRPB1_ENST00000262929.5_Nonsense_Mutation_p.Y78*|RP4-576H24.4_ENST00000564763.1_Nonsense_Mutation_p.Y79*	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	79	Ig-like V-type.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CTTTCTGATTGTAGATTAATT	0.517																																																	0													177.0	157.0	164.0					20																	1559180		2196	4245	6441	SO:0001587	stop_gained	0			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.237C>A	20.37:g.1559180G>T	ENSP00000371018:p.Tyr79*		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Nonsense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like_dom	p.Y79*	ENST00000381605.4	37	c.237	CCDS13019.1	20	.	.	.	.	.	.	.	.	.	.	.	15.67	2.903365	0.52333	.	.	ENSG00000101307	ENST00000381605;ENST00000381603;ENST00000262929	.	.	.	2.36	1.38	0.22167	.	0.346876	0.24999	N	0.033928	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.232	0.15426	0.1777:0.0:0.8223:0.0	.	.	.	.	X	79;79;78	.	ENSP00000262929:Y78X	Y	-	3	2	SIRPB1	1507180	0.159000	0.22864	0.002000	0.10522	0.000000	0.00434	0.229000	0.17833	0.329000	0.23460	-0.448000	0.05591	TAC	SIRPB1	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000101307		0.517	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIRPB1	HGNC	protein_coding	OTTHUMT00000077555.2	-	0.00	118	0	G	NM_006065		1559180	-1	tier1	-	no_errors	ENST00000381605	ensembl	human	known	74_37	nonsense	10.79	124	15	SNP	0.003	T
SLC17A6	57084	genome.wustl.edu	37	11	22387154	22387154	+	Silent	SNP	G	G	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr11:22387154G>A	ENST00000263160.3	+	7	1247	c.810G>A	c.(808-810)aaG>aaA	p.K270K		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	270					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GTCCTGCAAAGCATCCTACTA	0.388																																																	0													228.0	208.0	214.0					11																	22387154		2203	4300	6503	SO:0001819	synonymous_variant	0			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.810G>A	11.37:g.22387154G>A			A6NKS2	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.K270	ENST00000263160.3	37	c.810	CCDS7856.1	11																																																																																			SLC17A6	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000091664		0.388	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A6	HGNC	protein_coding	OTTHUMT00000387671.1	-	0.00	117	0	G	NM_020346		22387154	+1	tier1	-	no_errors	ENST00000263160	ensembl	human	known	74_37	silent	35.54	78	43	SNP	0.998	A
SLC17A8	246213	genome.wustl.edu	37	12	100813894	100813894	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr12:100813894C>A	ENST00000323346.5	+	12	2040	c.1727C>A	c.(1726-1728)aCa>aAa	p.T576K	SLC17A8_ENST00000392989.3_Missense_Mutation_p.T526K	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	576					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.T576I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GAAGAGCTGACATCCTACCAG	0.428																																																	1	Substitution - Missense(1)	kidney(1)											78.0	69.0	72.0					12																	100813894		2203	4300	6503	SO:0001583	missense	0			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1727C>A	12.37:g.100813894C>A	ENSP00000316909:p.Thr576Lys		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.T576K	ENST00000323346.5	37	c.1727	CCDS9077.1	12	.	.	.	.	.	.	.	.	.	.	C	0.160	-1.081996	0.01888	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.68181	0.11;-0.31	4.8	2.95	0.34219	.	0.546235	0.20488	N	0.091353	T	0.36386	0.0965	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.004	B;B	0.16289	0.013;0.015	T	0.28073	-1.0055	10	0.05620	T	0.96	.	5.6785	0.17761	0.1561:0.6785:0.0:0.1654	.	576;526	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	K	576;526	ENSP00000316909:T576K;ENSP00000376715:T526K	ENSP00000316909:T576K	T	+	2	0	SLC17A8	99338025	0.000000	0.05858	0.061000	0.19648	0.711000	0.40976	0.062000	0.14389	0.549000	0.28973	0.591000	0.81541	ACA	SLC17A8	-	NULL	ENSG00000179520		0.428	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A8	HGNC	protein_coding	OTTHUMT00000408673.2		0.00	44	0	C	NM_139319		100813894	+1			no_errors	ENST00000323346	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.012	A
SLC33A1	9197	genome.wustl.edu	37	3	155571332	155571332	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr3:155571332C>G	ENST00000392845.3	-	1	835	c.455G>C	c.(454-456)gGa>gCa	p.G152A	SLC33A1_ENST00000460729.1_5'Flank|SLC33A1_ENST00000359479.3_Missense_Mutation_p.G152A			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	152					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CATGAAGAGTCCTAGTATATA	0.478																																																	0													59.0	62.0	61.0					3																	155571332		2203	4300	6503	SO:0001583	missense	0			D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.455G>C	3.37:g.155571332C>G	ENSP00000376587:p.Gly152Ala		B2R5Q2|D3DNK4	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1	p.G152A	ENST00000392845.3	37	c.455	CCDS3173.1	3	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500365	0.85176	.	.	ENSG00000169359	ENST00000392845;ENST00000359479	T;T	0.79554	-1.28;-1.28	5.42	5.42	0.78866	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.84079	0.5393	L	0.48260	1.515	0.80722	D	1	P	0.40638	0.725	P	0.51777	0.679	T	0.81077	-0.1096	10	0.33141	T	0.24	-11.1843	19.6435	0.95767	0.0:1.0:0.0:0.0	.	152	O00400	ACATN_HUMAN	A	152	ENSP00000376587:G152A;ENSP00000352456:G152A	ENSP00000352456:G152A	G	-	2	0	SLC33A1	157054026	1.000000	0.71417	0.838000	0.33150	0.968000	0.65278	4.639000	0.61361	2.712000	0.92718	0.650000	0.86243	GGA	SLC33A1	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1	ENSG00000169359		0.478	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SLC33A1	HGNC	protein_coding	OTTHUMT00000351130.3	-	0.00	67	0	C	NM_004733		155571332	-1	tier1	-	no_errors	ENST00000359479	ensembl	human	known	74_37	missense	17.39	57	12	SNP	0.998	G
SLC46A1	113235	genome.wustl.edu	37	17	26729266	26729266	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:26729266C>G	ENST00000440501.1	-	3	1250	c.1155G>C	c.(1153-1155)gaG>gaC	p.E385D	CTD-2350C19.2_ENST00000580714.1_RNA|SLC46A1_ENST00000584729.1_5'UTR|CTD-2350C19.1_ENST00000583956.1_RNA|SLC46A1_ENST00000321666.5_Intron	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	385					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	CCTGCTCTGTCTCTCTCACCA	0.537																																																	0													63.0	66.0	65.0					17																	26729266		1975	4158	6133	SO:0001583	missense	0			AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.1155G>C	17.37:g.26729266C>G	ENSP00000395653:p.Glu385Asp		Q1HE20|Q86T92|Q8TEG3|Q96FL0	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E385D	ENST00000440501.1	37	c.1155		17	.	.	.	.	.	.	.	.	.	.	C	3.762	-0.049368	0.07407	.	.	ENSG00000076351	ENST00000440501	T	0.58797	0.31	5.67	-2.72	0.05968	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.145560	0.06151	N	0.674073	T	0.33059	0.0850	.	.	.	0.09310	N	0.999999	B	0.27316	0.175	B	0.25506	0.061	T	0.16012	-1.0417	9	0.13853	T	0.58	1.1474	5.6349	0.17532	0.0:0.4478:0.2262:0.326	.	385	Q96NT5	PCFT_HUMAN	D	385	ENSP00000395653:E385D	ENSP00000395653:E385D	E	-	3	2	SLC46A1	23753393	0.028000	0.19301	0.002000	0.10522	0.097000	0.18754	-0.138000	0.10374	-0.393000	0.07739	-0.768000	0.03414	GAG	SLC46A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000076351		0.537	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	SLC46A1	HGNC	protein_coding		-	0.00	63	0	C	NM_080669		26729266	-1	tier1	-	no_errors	ENST00000440501	ensembl	human	known	74_37	missense	69.35	19	43	SNP	0.000	G
SMC1B	27127	genome.wustl.edu	37	22	45782818	45782818	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr22:45782818C>T	ENST00000357450.4	-	11	1839	c.1840G>A	c.(1840-1842)Gga>Aga	p.G614R	SMC1B_ENST00000404354.3_Missense_Mutation_p.G614R	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	614	Flexible hinge.				meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AGACCATTTCCACACACAAAC	0.398																																																	0													187.0	174.0	178.0					22																	45782818		1911	4128	6039	SO:0001583	missense	0			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.1840G>A	22.37:g.45782818C>T	ENSP00000350036:p.Gly614Arg		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge	p.G614R	ENST00000357450.4	37	c.1840	CCDS43027.1	22	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445427	0.84101	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	D;D	0.88741	-2.42;-2.42	5.32	5.32	0.75619	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.000000	0.53938	D	0.000052	D	0.94611	0.8263	M	0.81614	2.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.93686	0.7003	10	0.37606	T	0.19	.	18.9977	0.92819	0.0:1.0:0.0:0.0	.	614;614;614	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	R	614	ENSP00000350036:G614R;ENSP00000385902:G614R	ENSP00000350036:G614R	G	-	1	0	SMC1B	44161482	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.840000	0.69402	2.466000	0.83321	0.591000	0.81541	GGA	SMC1B	-	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge	ENSG00000077935		0.398	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1B	HGNC	protein_coding	OTTHUMT00000322256.2	-	0.00	80	0	C	NM_148674		45782818	-1	tier1	-	no_errors	ENST00000357450	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T
SNRPC	6631	genome.wustl.edu	37	6	34730402	34730402	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr6:34730402A>T	ENST00000244520.5	+	3	220	c.82A>T	c.(82-84)Agg>Tgg	p.R28W	SNRPC_ENST00000474635.1_3'UTR|SNRPC_ENST00000374017.3_Missense_Mutation_p.R49W|SNRPC_ENST00000374018.1_De_novo_Start_InFrame	NM_003093.2	NP_003084.1			small nuclear ribonucleoprotein polypeptide C											endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						CTGCAGTGGAAGGAAACACAA	0.348																																					NSCLC(131;576 1831 5287 11175 13324)												0													84.0	78.0	80.0					6																	34730402		2203	4300	6503	SO:0001583	missense	0				CCDS34436.1	6p21	2014-03-06			ENSG00000124562	ENSG00000124562			11157	protein-coding gene	gene with protein product		603522				2971157, 8532530	Standard	NR_029472		Approved	U1-C, Yhc1	uc003ojt.2	P09234	OTTHUMG00000014555	ENST00000244520.5:c.82A>T	6.37:g.34730402A>T	ENSP00000244520:p.Arg28Trp			Missense_Mutation	SNP	pfam_Znf_U1-C,smart_Znf_U1,pirsf_U1_snRNP-C,pfscan_Znf_C2H2_matrin	p.R49W	ENST00000244520.5	37	c.145	CCDS34436.1	6	.	.	.	.	.	.	.	.	.	.	A	23.5	4.428170	0.83667	.	.	ENSG00000124562	ENST00000244520;ENST00000374017	T;T	0.28069	1.63;1.63	6.04	3.51	0.40186	Zinc finger, U1-C type (1);Zinc finger, U1-type (1);Zinc finger, C2H2-type matrin (1);	0.048733	0.85682	N	0.000000	T	0.33352	0.0860	L	0.39245	1.2	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.12016	-1.0564	10	0.51188	T	0.08	.	13.0438	0.58915	0.634:0.366:0.0:0.0	.	28	P09234	RU1C_HUMAN	W	28;49	ENSP00000244520:R28W;ENSP00000363129:R49W	ENSP00000244520:R28W	R	+	1	2	SNRPC	34838380	0.977000	0.34250	1.000000	0.80357	0.986000	0.74619	2.505000	0.45424	1.089000	0.41292	0.460000	0.39030	AGG	SNRPC	-	pfam_Znf_U1-C,smart_Znf_U1,pirsf_U1_snRNP-C,pfscan_Znf_C2H2_matrin	ENSG00000124562		0.348	SNRPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPC	HGNC	protein_coding	OTTHUMT00000040255.1	-	0.00	58	0	A	NM_003093		34730402	+1	tier1	-	no_errors	ENST00000374017	ensembl	human	known	74_37	missense	23.08	30	9	SNP	1.000	T
SNX25	83891	genome.wustl.edu	37	4	186260595	186260595	+	Silent	SNP	G	G	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr4:186260595G>T	ENST00000504273.1	+	11	1779	c.1485G>T	c.(1483-1485)ctG>ctT	p.L495L	SNX25_ENST00000264694.8_Silent_p.L495L|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	495					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		ACCTTCAGCTGCACATGGCAA	0.428																																																	0													93.0	82.0	86.0					4																	186260595		2203	4300	6503	SO:0001819	synonymous_variant	0			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1485G>T	4.37:g.186260595G>T			Q3ZT30|Q8N6K3	Silent	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_RGS_dom,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam	p.L495	ENST00000504273.1	37	c.1485	CCDS34116.1	4																																																																																			SNX25	-	superfamily_Phox	ENSG00000109762		0.428	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX25	HGNC	protein_coding	OTTHUMT00000360756.1	-	0.00	49	0	G	NM_031953		186260595	+1	tier1	-	no_errors	ENST00000264694	ensembl	human	known	74_37	silent	10.53	34	4	SNP	1.000	T
SRCAP	10847	genome.wustl.edu	37	16	30720962	30720962	+	Silent	SNP	A	A	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr16:30720962A>G	ENST00000262518.4	+	7	1147	c.762A>G	c.(760-762)ccA>ccG	p.P254P	SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000395059.2_Silent_p.P254P|SRCAP_ENST00000344771.4_Silent_p.P254P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	254					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCAACCAGCCATTAACCTCCA	0.542																																																	0													104.0	96.0	98.0					16																	30720962		2197	4300	6497	SO:0001819	synonymous_variant	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.762A>G	16.37:g.30720962A>G			B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.P254	ENST00000262518.4	37	c.762	CCDS10689.2	16																																																																																			SRCAP	-	NULL	ENSG00000080603		0.542	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	-	0.00	68	0	A	NM_006662		30720962	+1	tier1	-	no_errors	ENST00000262518	ensembl	human	known	74_37	silent	33.33	40	20	SNP	0.000	G
STK11	6794	genome.wustl.edu	37	19	1220644	1220644	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr19:1220644C>T	ENST00000326873.7	+	5	1835	c.662C>T	c.(661-663)cCg>cTg	p.P221L		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(2)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		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)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTTCCAGCCGCCCGAGATT	0.706		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"""E, M, O"""	22	Whole gene deletion(20)|Unknown(2)	cervix(14)|lung(4)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)											14.0	19.0	17.0					19																	1220644		1946	4126	6072	SO:0001583	missense	0	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.662C>T	19.37:g.1220644C>T	ENSP00000324856:p.Pro221Leu		B2RBX7|E7EW76	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P221L	ENST00000326873.7	37	c.662	CCDS45896.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.364579	0.95877	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.83506	-1.73	5.6	5.6	0.85130	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91958	0.7453	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92380	0.5912	10	0.62326	D	0.03	-28.8932	18.5988	0.91240	0.0:1.0:0.0:0.0	.	221	Q15831	STK11_HUMAN	L	221	ENSP00000324856:P221L	ENSP00000324856:P221L	P	+	2	0	STK11	1171644	1.000000	0.71417	0.965000	0.40720	0.668000	0.39293	7.712000	0.84684	2.644000	0.89710	0.561000	0.74099	CCG	STK11	-	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	ENSG00000118046		0.706	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3	-	0.00	23	0	C	NM_000455		1220644	+1	tier1	-	no_errors	ENST00000326873	ensembl	human	known	74_37	missense	38.46	7	5	SNP	1.000	T
SULT2A1	6822	genome.wustl.edu	37	19	48386900	48386900	+	Silent	SNP	T	T	C			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr19:48386900T>C	ENST00000222002.3	-	2	418	c.279A>G	c.(277-279)ccA>ccG	p.P93P		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	93					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	AGAATAAACGTGGACTCTCCG	0.507																																																	0													166.0	120.0	136.0					19																	48386900		2203	4300	6503	SO:0001819	synonymous_variant	0			X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"""Sulfotransferases, cytosolic"""	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.279A>G	19.37:g.48386900T>C				Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.P93	ENST00000222002.3	37	c.279	CCDS12707.1	19																																																																																			SULT2A1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000105398		0.507	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT2A1	HGNC	protein_coding	OTTHUMT00000369044.1	-	0.00	145	0	T	NM_003167		48386900	-1	tier1	-	no_errors	ENST00000222002	ensembl	human	known	74_37	silent	5.15	129	7	SNP	0.565	C
SYNRG	11276	genome.wustl.edu	37	17	35879084	35879084	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:35879084C>A	ENST00000339208.6	-	22	4044	c.3904G>T	c.(3904-3906)Gaa>Taa	p.E1302*	SYNRG_ENST00000345615.4_Nonsense_Mutation_p.E1212*|SYNRG_ENST00000591288.1_Nonsense_Mutation_p.E1096*|SYNRG_ENST00000502449.2_Nonsense_Mutation_p.E1167*|SYNRG_ENST00000394378.2_Nonsense_Mutation_p.E1247*|SYNRG_ENST00000346661.4_Nonsense_Mutation_p.E1290*|SYNRG_ENST00000585472.1_Nonsense_Mutation_p.E1223*	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1302					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGCTTTGGTTCGACACAGTTG	0.522																																																	0													208.0	201.0	204.0					17																	35879084		2203	4300	6503	SO:0001587	stop_gained	0			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3904G>T	17.37:g.35879084C>A	ENSP00000343610:p.Glu1302*		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Nonsense_Mutation	SNP	smart_EPS15_homology,pfscan_EPS15_homology	p.E1302*	ENST00000339208.6	37	c.3904	CCDS11321.1	17	.	.	.	.	.	.	.	.	.	.	C	41	8.707576	0.98922	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	.	.	.	5.44	5.44	0.79542	.	0.139503	0.52532	D	0.000074	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-22.7615	14.8289	0.70132	0.0:0.8564:0.1436:0.0	.	.	.	.	X	1302;1096;1290;1212;1247	.	ENSP00000343610:E1096X	E	-	1	0	SYNRG	32953197	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.005000	0.70716	2.573000	0.86826	0.655000	0.94253	GAA	SYNRG	-	NULL	ENSG00000006114		0.522	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNRG	HGNC	protein_coding	OTTHUMT00000256811.2		0.00	28	0	C	NM_007247		35879084	-1			no_errors	ENST00000339208	ensembl	human	known	74_37	nonsense	10.53	17	2	SNP	1.000	A
TAS2R46	259292	genome.wustl.edu	37	12	11214379	11214379	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr12:11214379A>G	ENST00000533467.1	-	1	514	c.515T>C	c.(514-516)aTg>aCg	p.M172T	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	172					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TGAAAGGTACATTGCACTCCT	0.353																																																	0													166.0	170.0	169.0					12																	11214379		2202	4299	6501	SO:0001583	missense	0			AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.515T>C	12.37:g.11214379A>G	ENSP00000436450:p.Met172Thr		P59548|Q645X6	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.M172T	ENST00000533467.1	37	c.515	CCDS53748.1	12	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.662399	0.00772	.	.	ENSG00000226761	ENST00000533467	T	0.00672	5.89	1.98	-2.4	0.06583	.	.	.	.	.	T	0.00440	0.0014	N	0.11000	0.08	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.43065	-0.9414	9	0.13108	T	0.6	.	2.3941	0.04386	0.3006:0.0:0.2943:0.4051	.	172	P59540	T2R46_HUMAN	T	172	ENSP00000436450:M172T	ENSP00000436450:M172T	M	-	2	0	TAS2R46	11105646	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.368000	0.02580	-0.567000	0.06046	0.163000	0.16589	ATG	TAS2R46	-	pfam_TAS2_rcpt	ENSG00000226761		0.353	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R46	HGNC	protein_coding	OTTHUMT00000383559.1	-	0.00	64	0	A	NM_176887		11214379	-1	tier1	-	no_errors	ENST00000533467	ensembl	human	known	74_37	missense	48.61	37	35	SNP	0.000	G
TBC1D5	9779	genome.wustl.edu	37	3	17416137	17416137	+	Silent	SNP	G	G	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr3:17416137G>A	ENST00000253692.7	-	11	2400	c.736C>T	c.(736-738)Ctg>Ttg	p.L246L	TBC1D5_ENST00000446818.2_Silent_p.L246L|TBC1D5_ENST00000429383.4_Silent_p.L246L|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429924.2_Silent_p.L198L	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	246	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TCATGTTCCAGATACTCAGGG	0.279																																																	0													81.0	83.0	83.0					3																	17416137		2203	4297	6500	SO:0001819	synonymous_variant	0			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.736C>T	3.37:g.17416137G>A			A6NP25|C9JP52	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L246	ENST00000253692.7	37	c.736	CCDS33714.1	3																																																																																			TBC1D5	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000131374		0.279	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D5	HGNC	protein_coding	OTTHUMT00000340301.3		0.00	87	0	G	NM_014744		17416137	-1			no_errors	ENST00000253692	ensembl	human	known	74_37	silent	5.36	53	3	SNP	1.000	A
TBCE	6905	genome.wustl.edu	37	1	235612062	235612062	+	Silent	SNP	A	A	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:235612062A>G	ENST00000366601.3	+	17	1745	c.1569A>G	c.(1567-1569)ctA>ctG	p.L523L	TBCE_ENST00000406207.1_Silent_p.L523L|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000543662.1_Silent_p.L574L			Q15813	TBCE_HUMAN	tubulin folding cofactor E	523					'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			GAGATTGTCTATTAGTGCGAT	0.398																																																	0													67.0	69.0	68.0					1																	235612062		2203	4300	6503	SO:0001819	synonymous_variant	0			U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"""tubulin-specific chaperone e"", ""Kenny-Caffey syndrome"", ""hypoparathyroidism, growth and mental retardation, and dysmorphism"""	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.1569A>G	1.37:g.235612062A>G			A8K8C2|B7Z3P1	Silent	SNP	pfam_CAP-Gly_domain,pfam_Ribosomal_S21e,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.L574	ENST00000366601.3	37	c.1722	CCDS1605.1	1																																																																																			TBCE	-	NULL	ENSG00000116957		0.398	TBCE-001	KNOWN	basic|CCDS	protein_coding	TBCE	HGNC	protein_coding	OTTHUMT00000096458.3	-	0.00	26	0	A	NM_003193		235612062	+1	tier1	-	no_errors	ENST00000543662	ensembl	human	known	74_37	silent	29.17	17	7	SNP	0.069	G
TCF4	6925	genome.wustl.edu	37	18	52937190	52937190	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr18:52937190T>C	ENST00000356073.4	-	11	1405	c.794A>G	c.(793-795)tAt>tGt	p.Y265C	TCF4_ENST00000568740.1_Missense_Mutation_p.Y240C|TCF4_ENST00000564228.1_Missense_Mutation_p.Y194C|TCF4_ENST00000561992.1_Missense_Mutation_p.Y135C|TCF4_ENST00000566279.1_Missense_Mutation_p.Y205C|TCF4_ENST00000564403.2_Missense_Mutation_p.Y271C|TCF4_ENST00000457482.3_Missense_Mutation_p.Y105C|TCF4_ENST00000398339.1_Missense_Mutation_p.Y367C|TCF4_ENST00000537578.1_Missense_Mutation_p.Y241C|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000537856.3_Missense_Mutation_p.Y135C|TCF4_ENST00000566286.1_Missense_Mutation_p.Y263C|TCF4_ENST00000568673.1_Missense_Mutation_p.Y241C|TCF4_ENST00000354452.3_Missense_Mutation_p.Y265C|TCF4_ENST00000570287.2_Missense_Mutation_p.Y105C|TCF4_ENST00000564999.1_Missense_Mutation_p.Y265C|TCF4_ENST00000544241.2_Missense_Mutation_p.Y194C|TCF4_ENST00000570177.2_Missense_Mutation_p.Y135C|TCF4_ENST00000561831.3_Missense_Mutation_p.Y105C|TCF4_ENST00000540999.1_Missense_Mutation_p.Y241C|TCF4_ENST00000543082.1_Missense_Mutation_p.Y223C|TCF4_ENST00000565018.2_Missense_Mutation_p.Y265C|TCF4_ENST00000567880.1_Missense_Mutation_p.Y205C	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	265					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|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)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GTGTGATGGATAGCTCTATAG	0.393																																																	0													153.0	136.0	142.0					18																	52937190		2203	4300	6503	SO:0001583	missense	0			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.794A>G	18.37:g.52937190T>C	ENSP00000348374:p.Tyr265Cys		B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.Y367C	ENST00000356073.4	37	c.1100	CCDS11960.1	18	.	.	.	.	.	.	.	.	.	.	T	23.4	4.410869	0.83340	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.76622	0.4013	M	0.77616	2.38	0.80722	D	1	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	D;D;D;D;D;D;D;D;D;D	0.97110	0.99;1.0;0.99;0.996;0.999;0.988;0.99;0.984;0.998;0.999	T	0.79876	-0.1618	10	0.87932	D	0	-11.9257	15.084	0.72135	0.0:0.0:0.0:1.0	.	241;265;241;105;367;265;223;194;105;263	B7Z5M6;G0LNT9;B7Z6Y1;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;.;ITF2_HUMAN;.;.;.;.	C	265;105;265;223;241;241;194;135;367	ENSP00000346440:Y265C;ENSP00000409447:Y105C;ENSP00000348374:Y265C;ENSP00000439656:Y223C;ENSP00000445202:Y241C;ENSP00000440731:Y241C;ENSP00000441562:Y194C;ENSP00000439827:Y135C;ENSP00000381382:Y367C	ENSP00000346440:Y265C	Y	-	2	0	TCF4	51088188	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.606000	0.67641	2.194000	0.70268	0.455000	0.32223	TAT	TCF4	-	NULL	ENSG00000196628		0.393	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	TCF4	HGNC	protein_coding	OTTHUMT00000256014.1	-	0.00	100	0	T	NM_003199		52937190	-1	tier1	-	no_errors	ENST00000398339	ensembl	human	known	74_37	missense	22.73	68	20	SNP	1.000	C
TJP1	7082	genome.wustl.edu	37	15	30001132	30001132	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr15:30001132G>T	ENST00000346128.6	-	25	4955	c.4481C>A	c.(4480-4482)gCt>gAt	p.A1494D	TJP1_ENST00000400011.2_Missense_Mutation_p.A1418D|TJP1_ENST00000545208.2_Missense_Mutation_p.A1414D|TJP1_ENST00000356107.6_Missense_Mutation_p.A1494D	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1494					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AGCTGCCTGAGCAGTATCTTC	0.443																																					Melanoma(77;681 1843 6309 6570)												0													148.0	144.0	145.0					15																	30001132		1860	4102	5962	SO:0001583	missense	0				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4481C>A	15.37:g.30001132G>T	ENSP00000281537:p.Ala1494Asp		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens	p.A1494D	ENST00000346128.6	37	c.4481	CCDS42007.1	15	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450773	0.43531	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.47177	0.85;0.85	5.61	1.35	0.21983	.	0.842078	0.10874	N	0.624567	T	0.32912	0.0845	L	0.29908	0.895	0.48395	D	0.999642	B;B;B;B	0.30146	0.07;0.023;0.021;0.27	B;B;B;B	0.27500	0.043;0.017;0.031;0.08	T	0.16512	-1.0400	10	0.72032	D	0.01	.	6.7397	0.23428	0.5787:0.0:0.4213:0.0	.	1487;1414;1494;1418	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	D	1494;1418;1494;1414;1414	ENSP00000281537:A1494D;ENSP00000382890:A1418D	ENSP00000281537:A1494D	A	-	2	0	TJP1	27788424	0.997000	0.39634	0.079000	0.20413	0.980000	0.70556	2.385000	0.44371	0.451000	0.26802	0.650000	0.86243	GCT	TJP1	-	NULL	ENSG00000104067		0.443	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	HGNC	protein_coding	OTTHUMT00000268237.3	-	0.00	65	0	G	NM_003257		30001132	-1	tier1	-	no_errors	ENST00000346128	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.692	T
TJP3	27134	genome.wustl.edu	37	19	3735879	3735879	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr19:3735879A>G	ENST00000541714.2	+	10	1535	c.1073A>G	c.(1072-1074)gAa>gGa	p.E358G	TJP3_ENST00000539908.2_Missense_Mutation_p.E322G|TJP3_ENST00000262968.9_Missense_Mutation_p.E391G|TJP3_ENST00000382008.3_Missense_Mutation_p.E372G|TJP3_ENST00000589378.1_Missense_Mutation_p.E367G|TJP3_ENST00000587686.1_Missense_Mutation_p.E377G	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	358					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCCCAGGGAAAGCAGCTAT	0.517																																																	0													143.0	138.0	140.0					19																	3735879		2203	4300	6503	SO:0001583	missense	0			AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1073A>G	19.37:g.3735879A>G	ENSP00000439278:p.Glu358Gly		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	pfam_PDZ,pfam_SH3_2,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS3,prints_ZonOcculdens	p.E391G	ENST00000541714.2	37	c.1172	CCDS32873.2	19	.	.	.	.	.	.	.	.	.	.	A	8.062	0.768422	0.15983	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.08370	3.1;3.25;3.11;3.22	4.32	-6.05	0.02172	.	4.591200	0.00896	N	0.002291	T	0.05227	0.0139	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.10450	0.003;0.005;0.001;0.003	T	0.32955	-0.9887	10	0.41790	T	0.15	.	6.8603	0.24064	0.2252:0.4047:0.3701:0.0	.	377;391;372;358	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	G	358;322;372;391	ENSP00000439278:E358G;ENSP00000439991:E322G;ENSP00000371438:E372G;ENSP00000262968:E391G	ENSP00000262968:E391G	E	+	2	0	TJP3	3686879	0.000000	0.05858	0.000000	0.03702	0.194000	0.23727	-1.429000	0.02437	-1.903000	0.01093	-0.483000	0.04790	GAA	TJP3	-	NULL	ENSG00000105289		0.517	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP3	HGNC	protein_coding	OTTHUMT00000453434.1		0.00	71	0	A			3735879	+1			no_errors	ENST00000262968	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	G
TNN	63923	genome.wustl.edu	37	1	175067617	175067617	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:175067617G>A	ENST00000239462.4	+	9	2118	c.2005G>A	c.(2005-2007)Gag>Aag	p.E669K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	669	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGTGGGGAAGGAGCAGAGCAG	0.642																																																	0													105.0	96.0	99.0					1																	175067617		2203	4300	6503	SO:0001583	missense	0			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2005G>A	1.37:g.175067617G>A	ENSP00000239462:p.Glu669Lys		B9EGP3|Q5R360	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.E669K	ENST00000239462.4	37	c.2005	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241991	0.58995	.	.	ENSG00000120332	ENST00000239462	T	0.04502	3.61	5.14	4.22	0.49857	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.284538	0.39544	N	0.001323	T	0.10508	0.0257	L	0.56396	1.775	0.33628	D	0.605627	P;P	0.39809	0.661;0.689	B;P	0.48921	0.41;0.595	T	0.06716	-1.0811	10	0.49607	T	0.09	.	9.5804	0.39484	0.1687:0.0:0.8313:0.0	.	669;669	B3KXB6;Q9UQP3	.;TENN_HUMAN	K	669	ENSP00000239462:E669K	ENSP00000239462:E669K	E	+	1	0	TNN	173334240	0.978000	0.34361	0.998000	0.56505	0.158000	0.22134	1.143000	0.31553	1.288000	0.44600	0.460000	0.39030	GAG	TNN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000120332		0.642	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	-	0.00	140	0	G	XM_040527		175067617	+1	tier1	-	no_errors	ENST00000239462	ensembl	human	known	74_37	missense	30.09	78	34	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7577106	7577106	+	Missense_Mutation	SNP	G	G	C	rs17849781		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:7577106G>C	ENST00000269305.4	-	8	1021	c.832C>G	c.(832-834)Cct>Gct	p.P278A	TP53_ENST00000455263.2_Missense_Mutation_p.P278A|TP53_ENST00000445888.2_Missense_Mutation_p.P278A|TP53_ENST00000359597.4_Missense_Mutation_p.P278A|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.P278A|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTCTCCCAGGACAGGCACAA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	131	Substitution - Missense(105)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Insertion - Frameshift(2)|Unknown(2)|Insertion - In frame(1)	upper_aerodigestive_tract(19)|breast(18)|skin(16)|large_intestine(14)|oesophagus(11)|lung(11)|central_nervous_system(7)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|ovary(4)|bone(4)|kidney(3)|endometrium(3)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|eye(1)|biliary_tract(1)|liver(1)|prostate(1)	GRCh37	CM011015|CM052927	TP53	M	rs17849781						72.0	62.0	65.0					17																	7577106		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.832C>G	17.37:g.7577106G>C	ENSP00000269305:p.Pro278Ala		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.P278A	ENST00000269305.4	37	c.832	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954842	0.92726	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99880	-7.46;-7.46;-7.46;-7.46;-7.46;-7.46	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99894	0.9949	M	0.88570	2.965	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.97110	0.992;1.0;0.991;0.988	D	0.96234	0.9170	10	0.72032	D	0.01	-13.7877	16.1198	0.81342	0.0:0.0:1.0:0.0	rs17849781	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	A	278;278;278;278;278;267;146	ENSP00000352610:P278A;ENSP00000269305:P278A;ENSP00000398846:P278A;ENSP00000391127:P278A;ENSP00000391478:P278A;ENSP00000425104:P146A	ENSP00000269305:P278A	P	-	1	0	TP53	7517831	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.573000	0.98181	2.667000	0.90743	0.462000	0.41574	CCT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	39	0	G	NM_000546		7577106	-1	tier1	rs17849781	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	35.00	13	7	SNP	1.000	C
TRAK1	22906	genome.wustl.edu	37	3	42244124	42244124	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr3:42244124G>A	ENST00000327628.5	+	13	2024	c.1624G>A	c.(1624-1626)Gag>Aag	p.E542K	TRAK1_ENST00000341421.3_Missense_Mutation_p.E484K|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Missense_Mutation_p.E468K|TRAK1_ENST00000396175.1_Missense_Mutation_p.E484K	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	542					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CACACCCACTGAGAGCATCAT	0.622																																					GBM(44;195 884 22595 31865 41850)												0													53.0	59.0	57.0					3																	42244124		2203	4300	6503	SO:0001583	missense	0				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1624G>A	3.37:g.42244124G>A	ENSP00000328998:p.Glu542Lys		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.E484K	ENST00000327628.5	37	c.1450	CCDS43072.1	3	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586993	0.86851	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421;ENST00000427771	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	5.95	5.95	0.96441	Trafficking kinesin-binding protein domain (1);	0.128353	0.53938	D	0.000046	T	0.63165	0.2488	L	0.47190	1.495	0.50813	D	0.999893	P;P;P;P;B;P	0.52170	0.939;0.698;0.951;0.94;0.234;0.739	P;P;P;P;B;B	0.54544	0.67;0.45;0.755;0.62;0.178;0.403	T	0.62959	-0.6743	10	0.66056	D	0.02	.	19.3813	0.94536	0.0:0.0:1.0:0.0	.	468;484;542;484;468;542	B7Z218;C9JC32;B7Z347;Q9UPV9-2;E9PDS2;Q9UPV9	.;.;.;.;.;TRAK1_HUMAN	K	542;542;468;484;484;260	ENSP00000328998:E542K;ENSP00000410717:E468K;ENSP00000379478:E484K;ENSP00000340702:E484K;ENSP00000413729:E260K	ENSP00000328998:E542K	E	+	1	0	TRAK1	42219128	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.669000	0.98622	2.824000	0.97209	0.655000	0.94253	GAG	TRAK1	-	pfam_Traffickng_kinesin-bd_prot_dom	ENSG00000182606		0.622	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TRAK1	HGNC	protein_coding	OTTHUMT00000343413.1	-	0.00	115	0	G	NM_014965		42244124	+1	tier1	-	no_errors	ENST00000396175	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A
TRA2B	6434	genome.wustl.edu	37	3	185639916	185639916	+	Splice_Site	SNP	T	T	C			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr3:185639916T>C	ENST00000453386.2	-	5	798		c.e5-2		TRA2B_ENST00000382191.4_Splice_Site	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)						mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						TTCTTTAGCCTTCAAAAGGTA	0.398																																																	0													108.0	100.0	103.0					3																	185639916		2203	4300	6503	SO:0001630	splice_region_variant	0			AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"""RNA binding motif (RRM) containing"""	10781	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 156"""	602719	"""splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"""	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.523-2A>G	3.37:g.185639916T>C			B4DVK2|D3DNU3|O15449|Q15815|Q64283	Splice_Site	SNP	-	e5-2	ENST00000453386.2	37	c.523-2	CCDS33905.1	3	.	.	.	.	.	.	.	.	.	.	T	16.41	3.114294	0.56505	.	.	ENSG00000136527	ENST00000453386;ENST00000259043;ENST00000382191	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1964	0.65675	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRA2B	187122610	1.000000	0.71417	0.941000	0.38009	0.782000	0.44232	7.765000	0.85310	2.057000	0.61298	0.460000	0.39030	.	TRA2B	-	-	ENSG00000136527		0.398	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2B	HGNC	protein_coding	OTTHUMT00000344984.1	-	0.00	41	0	T	NM_004593	Intron	185639916	-1	tier1	-	no_errors	ENST00000453386	ensembl	human	known	74_37	splice_site	29.73	26	11	SNP	0.998	C
TRDN	10345	genome.wustl.edu	37	6	123892175	123892175	+	Missense_Mutation	SNP	G	G	A	rs371627659		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr6:123892175G>A	ENST00000398178.3	-	2	146	c.125C>T	c.(124-126)aCg>aTg	p.T42M	TRDN_ENST00000546248.1_Missense_Mutation_p.T42M|TRDN_ENST00000334268.4_Missense_Mutation_p.T42M|TRDN_ENST00000542443.1_Missense_Mutation_p.T42M	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	42					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GCTGAACGTCGTCACTATGTC	0.468																																																	0													109.0	114.0	112.0					6																	123892175		2044	4200	6244	SO:0001583	missense	0			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.125C>T	6.37:g.123892175G>A	ENSP00000381240:p.Thr42Met		A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom	p.T42M	ENST00000398178.3	37	c.125	CCDS55053.1	6	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321873	0.60634	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268;ENST00000542014;ENST00000543022;ENST00000546248;ENST00000542443	T;T;T;T	0.66460	2.01;2.01;5.33;-0.21	5.82	5.82	0.92795	.	0.177852	0.50627	D	0.000103	T	0.81763	0.4891	M	0.80616	2.505	0.40158	D	0.977031	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.998;0.999;0.999;1.0	T	0.83140	-0.0109	10	0.87932	D	0	-16.7003	20.0966	0.97849	0.0:0.0:1.0:0.0	.	42;42;42;42;42	F5H6E3;F5H2W7;Q5SWK9;Q8IVK2;Q13061	.;.;.;.;TRDN_HUMAN	M	42	ENSP00000381240:T42M;ENSP00000333984:T42M;ENSP00000439281:T42M;ENSP00000437684:T42M	ENSP00000333984:T42M	T	-	2	0	TRDN	123933874	0.995000	0.38212	0.961000	0.40146	0.822000	0.46500	3.826000	0.55738	2.753000	0.94483	0.557000	0.71058	ACG	TRDN	-	NULL	ENSG00000186439		0.468	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRDN	HGNC	protein_coding		-	0.00	70	0	G			123892175	-1	tier1	-	no_errors	ENST00000398178	ensembl	human	known	74_37	missense	48.15	42	39	SNP	0.992	A
TREX1	11277	genome.wustl.edu	37	3	48508870	48508870	+	Silent	SNP	T	T	C			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr3:48508870T>C	ENST00000422277.2	+	1	1642	c.981T>C	c.(979-981)gaT>gaC	p.D327D	TREX1_ENST00000444177.1_Silent_p.D262D|TREX1_ENST00000436480.2_Silent_p.D272D|TREX1_ENST00000433541.1_Silent_p.D133D|TREX1_ENST00000456089.1_Silent_p.D133D|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000296443.9_Silent_p.D272D	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	327	Interaction with UBQLN1.|Necessary for endoplasmic reticulum localization. {ECO:0000250}.				cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTACCAAGGATCTTCCTCCAG	0.597																																																	0													85.0	85.0	85.0					3																	48508870		2203	4300	6503	SO:0001819	synonymous_variant	0			AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"""Aicardi-Goutieres syndrome 1"""	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.981T>C	3.37:g.48508870T>C			B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Silent	SNP	superfamily_RNaseH-like_dom,smart_Exonuclease	p.D327	ENST00000422277.2	37	c.981	CCDS43086.1	3																																																																																			TREX1	-	NULL	ENSG00000213689		0.597	TREX1-201	KNOWN	basic|CCDS	protein_coding	TREX1	HGNC	protein_coding		-	0.00	58	0	T	NM_016381		48508870	+1	tier1	-	no_errors	ENST00000422277	ensembl	human	known	74_37	silent	35.00	13	7	SNP	0.000	C
UBA6	55236	genome.wustl.edu	37	4	68544176	68544176	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr4:68544176C>A	ENST00000322244.5	-	5	393	c.334G>T	c.(334-336)Gtt>Ttt	p.V112F	UBA6_ENST00000420827.2_Missense_Mutation_p.V112F	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	112					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TTATTAACAACATCATCTTCA	0.284																																																	0													72.0	72.0	72.0					4																	68544176		2202	4298	6500	SO:0001583	missense	0			AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.334G>T	4.37:g.68544176C>A	ENSP00000313454:p.Val112Phe		A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.V112F	ENST00000322244.5	37	c.334	CCDS3516.1	4	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196006	0.58126	.	.	ENSG00000033178	ENST00000322244;ENST00000420827	T;T	0.55234	0.53;0.53	5.58	1.55	0.23275	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.131519	0.49916	D	0.000122	T	0.71239	0.3316	M	0.89478	3.035	0.52099	D	0.999948	D;D;D	0.64830	0.991;0.994;0.993	P;P;D	0.65773	0.865;0.885;0.938	T	0.71471	-0.4583	10	0.87932	D	0	-21.9394	9.3706	0.38252	0.0:0.5241:0.0:0.4759	.	112;112;112	A0AVT1-4;A0AVT1-3;A0AVT1	.;.;UBA6_HUMAN	F	112	ENSP00000313454:V112F;ENSP00000399234:V112F	ENSP00000313454:V112F	V	-	1	0	UBA6	68226771	1.000000	0.71417	0.997000	0.53966	0.895000	0.52256	1.549000	0.36212	-0.030000	0.13804	-0.259000	0.10710	GTT	UBA6	-	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1	ENSG00000033178		0.284	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA6	HGNC	protein_coding	OTTHUMT00000251429.2	-	0.00	53	0	C	NM_018227		68544176	-1	tier1	-	no_errors	ENST00000322244	ensembl	human	known	74_37	missense	30.77	27	12	SNP	1.000	A
UBR3	130507	genome.wustl.edu	37	2	170770621	170770621	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr2:170770621C>G	ENST00000272793.5	+	11	1881	c.1831C>G	c.(1831-1833)Caa>Gaa	p.Q611E	UBR3_ENST00000418381.1_Missense_Mutation_p.Q611E			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	611					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TGAAGCTCTTCAAGACTGGTT	0.264																																																	0													151.0	127.0	134.0					2																	170770621		692	1588	2280	SO:0001583	missense	0			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.1831C>G	2.37:g.170770621C>G	ENSP00000272793:p.Gln611Glu		B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.Q611E	ENST00000272793.5	37	c.1831		2	.	.	.	.	.	.	.	.	.	.	C	18.75	3.690790	0.68271	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381	T;T	0.29655	1.56;1.56	5.37	5.37	0.77165	.	.	.	.	.	T	0.36413	0.0966	N	0.16743	0.435	0.80722	D	1	P	0.49447	0.924	P	0.62298	0.9	T	0.04216	-1.0968	9	0.09590	T	0.72	.	19.4604	0.94915	0.0:1.0:0.0:0.0	.	611	Q6ZT12	UBR3_HUMAN	E	611	ENSP00000272793:Q611E;ENSP00000396068:Q611E	ENSP00000272793:Q611E	Q	+	1	0	UBR3	170478867	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.385000	0.79763	2.668000	0.90789	0.563000	0.77884	CAA	UBR3	-	NULL	ENSG00000144357		0.264	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	UBR3	HGNC	protein_coding	OTTHUMT00000255290.2		0.00	92	0	C	NM_172070		170770621	+1			no_errors	ENST00000272793	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	G
VWA3A	146177	genome.wustl.edu	37	16	22128487	22128487	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr16:22128487C>A	ENST00000389398.5	+	11	1076	c.980C>A	c.(979-981)cCa>cAa	p.P327Q	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	327						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TGCTACAGCCCAAAGATGGAG	0.557																																																	0													139.0	132.0	135.0					16																	22128487		1956	4154	6110	SO:0001583	missense	0			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.980C>A	16.37:g.22128487C>A	ENSP00000374049:p.Pro327Gln		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.P327Q	ENST00000389398.5	37	c.980	CCDS45441.1	16	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336811	0.41398	.	.	ENSG00000175267	ENST00000310694;ENST00000389398	T	0.13420	2.59	5.49	1.18	0.20946	.	0.282853	0.26715	N	0.022866	T	0.19208	0.0461	L	0.57536	1.79	0.09310	N	0.999997	D	0.56746	0.977	P	0.53313	0.723	T	0.05616	-1.0874	10	0.62326	D	0.03	.	5.5303	0.16980	0.1363:0.6335:0.0:0.2302	.	327	A6NCI4	VWA3A_HUMAN	Q	227;327	ENSP00000374049:P327Q	ENSP00000308827:P227Q	P	+	2	0	VWA3A	22035988	0.418000	0.25440	0.049000	0.19019	0.575000	0.36095	1.690000	0.37711	0.260000	0.21731	0.655000	0.94253	CCA	VWA3A	-	NULL	ENSG00000175267		0.557	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	-	0.00	53	0	C			22128487	+1	tier1	-	no_errors	ENST00000389398	ensembl	human	known	74_37	missense	37.50	30	18	SNP	0.020	A
WBSCR17	64409	genome.wustl.edu	37	7	70853300	70853300	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr7:70853300A>T	ENST00000333538.5	+	3	1136	c.502A>T	c.(502-504)Atc>Ttc	p.I168F	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	168	Catalytic subdomain A.				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)				CCTGTCGGTGATCCTGCGGTC	0.552																																																	0													137.0	111.0	120.0					7																	70853300		2203	4300	6503	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.502A>T	7.37:g.70853300A>T	ENSP00000329654:p.Ile168Phe		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.I168F	ENST00000333538.5	37	c.502	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	A	25.0	4.590466	0.86851	.	.	ENSG00000185274	ENST00000333538;ENST00000447516	T;T	0.66995	-0.24;-0.24	5.58	5.58	0.84498	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.82737	0.5102	M	0.85777	2.775	0.80722	D	1	D	0.61697	0.99	D	0.66979	0.948	D	0.85789	0.1366	10	0.87932	D	0	.	15.2355	0.73427	1.0:0.0:0.0:0.0	.	168	Q6IS24	GLTL3_HUMAN	F	168;146	ENSP00000329654:I168F;ENSP00000392019:I146F	ENSP00000329654:I168F	I	+	1	0	WBSCR17	70491236	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.247000	0.78257	2.246000	0.74042	0.533000	0.62120	ATC	WBSCR17	-	pfam_Glyco_trans_2	ENSG00000185274		0.552	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	-	0.00	44	0	A	NM_022479		70853300	+1	tier1	-	no_errors	ENST00000333538	ensembl	human	known	74_37	missense	23.68	29	9	SNP	1.000	T
XDH	7498	genome.wustl.edu	37	2	31620585	31620585	+	Silent	SNP	G	G	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr2:31620585G>A	ENST00000379416.3	-	6	492	c.444C>T	c.(442-444)tgC>tgT	p.C148C		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	148					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CTGTGCAGCGGCACAGATTTC	0.542																																					Colon(66;682 1445 30109 40147)												0													100.0	105.0	103.0					2																	31620585		2203	4300	6503	SO:0001819	synonymous_variant	0			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.444C>T	2.37:g.31620585G>A			Q16681|Q16712|Q4PJ16	Silent	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu	p.C148	ENST00000379416.3	37	c.444	CCDS1775.1	2																																																																																			XDH	-	pfam_2Fe-2S-bd,superfamily_2Fe-2S-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Xanthine_DH_ssu	ENSG00000158125		0.542	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	HGNC	protein_coding	OTTHUMT00000216840.1	-	0.00	60	0	G	NM_000379		31620585	-1	tier1	-	no_errors	ENST00000379416	ensembl	human	known	74_37	silent	6.67	56	4	SNP	1.000	A
YTHDC2	64848	genome.wustl.edu	37	5	112862420	112862420	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr5:112862420A>G	ENST00000161863.4	+	4	826	c.613A>G	c.(613-615)Ata>Gta	p.I205V	YTHDC2_ENST00000515883.1_Missense_Mutation_p.I205V	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	205	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AATTGTTAAAATAATTAAGGA	0.323																																																	0													52.0	58.0	56.0					5																	112862420		2201	4299	6500	SO:0001583	missense	0			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.613A>G	5.37:g.112862420A>G	ENSP00000161863:p.Ile205Val		B2RP66	Missense_Mutation	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I205V	ENST00000161863.4	37	c.613	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	A	7.942	0.742899	0.15642	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.07567	3.18;3.18	5.52	5.52	0.82312	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.092869	0.64402	D	0.000001	T	0.04543	0.0124	N	0.08118	0	0.35960	D	0.834513	B	0.18968	0.032	B	0.17098	0.017	T	0.14476	-1.0471	10	0.02654	T	1	.	15.9319	0.79668	1.0:0.0:0.0:0.0	.	205	Q9H6S0	YTDC2_HUMAN	V	205;205;115	ENSP00000161863:I205V;ENSP00000423101:I205V	ENSP00000161863:I205V	I	+	1	0	YTHDC2	112890319	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.529000	0.53532	2.222000	0.72286	0.383000	0.25322	ATA	YTHDC2	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000047188		0.323	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	-	0.00	129	0	A	NM_022828		112862420	+1	tier1	-	no_errors	ENST00000161863	ensembl	human	known	74_37	missense	44.07	33	26	SNP	1.000	G
ZFPM2	23414	genome.wustl.edu	37	8	106811047	106811047	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr8:106811047G>A	ENST00000407775.2	+	7	1085	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.E147K|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.E147K|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.E10K	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	279					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAGGCAAAGAGAAGCTGCTCC	0.522																																																	0													110.0	114.0	112.0					8																	106811047		2089	4228	6317	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.835G>A	8.37:g.106811047G>A	ENSP00000384179:p.Glu279Lys		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E279K	ENST00000407775.2	37	c.835	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599091	0.87055	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.19938	2.11;2.59;2.59;3.79	6.06	6.06	0.98353	.	0.092954	0.64402	D	0.000001	T	0.19685	0.0473	L	0.40543	1.245	0.80722	D	1	P	0.36282	0.546	B	0.26770	0.073	T	0.01397	-1.1365	10	0.41790	T	0.15	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	279	Q8WW38	FOG2_HUMAN	K	279;147;147;10	ENSP00000384179:E279K;ENSP00000430757:E147K;ENSP00000428720:E147K;ENSP00000367733:E10K	ENSP00000367733:E10K	E	+	1	0	ZFPM2	106880223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.880000	0.98712	0.650000	0.86243	GAA	ZFPM2	-	NULL	ENSG00000169946		0.522	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	-	0.00	56	0	G			106811047	+1	tier1	-	no_errors	ENST00000407775	ensembl	human	known	74_37	missense	19.12	55	13	SNP	1.000	A
ZNF143	7702	genome.wustl.edu	37	11	9534025	9534025	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr11:9534025A>G	ENST00000396602.2	+	13	1525	c.1406A>G	c.(1405-1407)cAg>cGg	p.Q469R	ZNF143_ENST00000530463.1_Missense_Mutation_p.Q468R|ZNF143_ENST00000299606.2_Missense_Mutation_p.Q441R|ZNF143_ENST00000396604.1_Missense_Mutation_p.Q468R|ZNF143_ENST00000396597.3_Missense_Mutation_p.Q438R	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	469					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		AAAGGGTCCCAGATTACGTAT	0.373																																																	0													175.0	158.0	164.0					11																	9534025		2201	4294	6495	SO:0001583	missense	0			U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.1406A>G	11.37:g.9534025A>G	ENSP00000379847:p.Gln469Arg		A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q469R	ENST00000396602.2	37	c.1406	CCDS7799.2	11	.	.	.	.	.	.	.	.	.	.	A	12.41	1.928861	0.34002	.	.	ENSG00000166478	ENST00000396604;ENST00000396602;ENST00000530463;ENST00000396597;ENST00000299606	T;T;T;T;T	0.09538	2.97;2.99;2.97;2.99;3.01	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000001	T	0.16981	0.0408	N	0.14661	0.345	0.42590	D	0.993248	P;P;P	0.48294	0.908;0.851;0.851	D;P;P	0.64144	0.922;0.838;0.838	T	0.20075	-1.0286	10	0.30854	T	0.27	.	15.873	0.79136	1.0:0.0:0.0:0.0	.	438;468;469	P52747-2;E7ER34;P52747	.;.;ZN143_HUMAN	R	468;469;468;438;441	ENSP00000379849:Q468R;ENSP00000379847:Q469R;ENSP00000432154:Q468R;ENSP00000379843:Q438R;ENSP00000299606:Q441R	ENSP00000299606:Q441R	Q	+	2	0	ZNF143	9490601	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	5.101000	0.64566	2.208000	0.71279	0.459000	0.35465	CAG	ZNF143	-	NULL	ENSG00000166478		0.373	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF143	HGNC	protein_coding	OTTHUMT00000313921.2	-	0.00	72	0	A	NM_003442		9534025	+1	tier1	-	no_errors	ENST00000396602	ensembl	human	known	74_37	missense	32.69	35	17	SNP	1.000	G
ZNF17	7565	genome.wustl.edu	37	19	57932633	57932633	+	Missense_Mutation	SNP	T	T	A	rs61733518	byFrequency	TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr19:57932633T>A	ENST00000601808.1	+	3	1986	c.1773T>A	c.(1771-1773)ttT>ttA	p.F591L	ZNF17_ENST00000307658.7_Missense_Mutation_p.F593L|AC004076.7_ENST00000597410.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	591					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		GGAAATTTTTTATGGACAGCT	0.418																																					Melanoma(149;1637 1853 29914 42869 44988)												0													50.0	53.0	52.0					19																	57932633		2129	4277	6406	SO:0001583	missense	0			X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1773T>A	19.37:g.57932633T>A	ENSP00000471905:p.Phe591Leu		B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	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.F591L	ENST00000601808.1	37	c.1773	CCDS42636.1	19	.	.	.	.	.	.	.	.	.	.	t	13.54	2.266474	0.40095	.	.	ENSG00000186272	ENST00000307658	.	.	.	2.45	-4.89	0.03103	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67795	0.2931	M	0.86343	2.81	0.09310	N	1	D;P	0.89917	1.0;0.947	D;B	0.97110	1.0;0.364	T	0.66555	-0.5894	8	0.87932	D	0	.	11.4985	0.50424	0.0:0.5277:0.0:0.4723	.	593;591	P17021-2;P17021	.;ZNF17_HUMAN	L	591	.	ENSP00000302455:F591L	F	+	3	2	ZNF17	62624445	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-1.398000	0.02509	-2.258000	0.00694	-1.374000	0.01184	TTT	ZNF17	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186272		0.418	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF17	HGNC	protein_coding	OTTHUMT00000466384.1	-	0.00	83	0	T	NM_006959		57932633	+1	tier1	-	no_errors	ENST00000601808	ensembl	human	known	74_37	missense	35.48	40	22	SNP	0.000	A
ZNF391	346157	genome.wustl.edu	37	6	27368437	27368437	+	Missense_Mutation	SNP	A	A	C			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr6:27368437A>C	ENST00000244576.4	+	3	833	c.288A>C	c.(286-288)ttA>ttC	p.L96F		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	96					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)			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						ATTCAGACTTAATTAAACACC	0.358																																																	0													70.0	67.0	68.0					6																	27368437		1830	4097	5927	SO:0001583	missense	0			BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"""Zinc fingers, C2H2-type"""	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.288A>C	6.37:g.27368437A>C	ENSP00000244576:p.Leu96Phe		B4DH77	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L96F	ENST00000244576.4	37	c.288	CCDS43429.1	6	.	.	.	.	.	.	.	.	.	.	A	10.83	1.461425	0.26248	.	.	ENSG00000124613	ENST00000244576;ENST00000461521	T;T	0.25749	1.78;1.78	4.29	-2.39	0.06602	.	.	.	.	.	T	0.08179	0.0204	L	0.56340	1.77	0.09310	N	1	B	0.15719	0.014	B	0.12837	0.008	T	0.41070	-0.9529	9	0.56958	D	0.05	.	5.3452	0.16006	0.2574:0.199:0.0:0.5437	.	96	Q9UJN7	ZN391_HUMAN	F	96	ENSP00000244576:L96F;ENSP00000419498:L96F	ENSP00000244576:L96F	L	+	3	2	ZNF391	27476416	0.000000	0.05858	0.007000	0.13788	0.015000	0.08874	-1.404000	0.02494	-0.337000	0.08426	0.533000	0.62120	TTA	ZNF391	-	NULL	ENSG00000124613		0.358	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF391	HGNC	protein_coding	OTTHUMT00000040145.2	-	0.00	61	0	A	NM_001076781		27368437	+1	tier1	-	no_errors	ENST00000244576	ensembl	human	known	74_37	missense	24.56	43	14	SNP	0.002	C
ZNF561	93134	genome.wustl.edu	37	19	9721697	9721697	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr19:9721697T>A	ENST00000302851.3	-	6	1003	c.640A>T	c.(640-642)Aat>Tat	p.N214Y	ZNF561_ENST00000424629.1_Missense_Mutation_p.N145Y|ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000354661.4_Missense_Mutation_p.N78Y|ZNF561_ENST00000326044.5_3'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	214					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)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						CCCATATGATTATCAAGGCTT	0.408																																																	0													61.0	55.0	57.0					19																	9721697		2203	4300	6503	SO:0001583	missense	0			AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"""Zinc fingers, C2H2-type"", ""-"""	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.640A>T	19.37:g.9721697T>A	ENSP00000303915:p.Asn214Tyr		B4E2Q8|Q6PJS0	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.N214Y	ENST00000302851.3	37	c.640	CCDS12216.2	19	.	.	.	.	.	.	.	.	.	.	T	10.84	1.464293	0.26335	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661;ENST00000444611	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	1.1	-1.05	0.10036	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54175	0.1842	L	0.46157	1.445	0.09310	N	1	D	0.69078	0.997	D	0.83275	0.996	T	0.43196	-0.9406	9	0.54805	T	0.06	.	5.0293	0.14402	0.0:0.6446:0.0:0.3554	.	214	Q8N587	ZN561_HUMAN	Y	145;214;78;220	ENSP00000393074:N145Y;ENSP00000303915:N214Y;ENSP00000346687:N78Y;ENSP00000392013:N220Y	ENSP00000303915:N214Y	N	-	1	0	ZNF561	9582697	0.000000	0.05858	0.000000	0.03702	0.399000	0.30720	-5.026000	0.00158	-0.246000	0.09611	0.248000	0.18094	AAT	ZNF561	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171469		0.408	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF561	HGNC	protein_coding	OTTHUMT00000347272.2	-	0.00	79	0	T	NM_152289		9721697	-1	tier1	-	no_errors	ENST00000302851	ensembl	human	known	74_37	missense	37.68	43	26	SNP	0.000	A
ZNF750	79755	genome.wustl.edu	37	17	80790213	80790213	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:80790213delG	ENST00000269394.3	-	2	951	c.118delC	c.(118-120)cttfs	p.L40fs	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	40					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGATTAAAAAGATGTGACTTC	0.418																																																	0													110.0	110.0	110.0					17																	80790213		2203	4300	6503	SO:0001589	frameshift_variant	0			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.118delC	17.37:g.80790213delG	ENSP00000269394:p.Leu40fs		Q9H899	Frame_Shift_Del	DEL	NULL	p.L40fs	ENST00000269394.3	37	c.118	CCDS11819.1	17																																																																																			ZNF750	-	NULL	ENSG00000141579		0.418	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2		0.00	68	0	G	NM_024702		80790213	-1	tier1		no_errors	ENST00000269394	ensembl	human	known	74_37	frame_shift_del	53.57	26	30	DEL	0.999	-
ZRANB1	54764	genome.wustl.edu	37	10	126673561	126673561	+	Stop_Codon_Del	DEL	A	A	-	rs74898717		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr10:126673561delA	ENST00000359653.4	+	0	2498					NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1						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)	p.*709fs?(1)		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)		AAGATGAATGAAAAAAAAAAT	0.448																																																	1	Deletion - Frameshift(1)	ovary(1)								287,34,3943		12,0,263,0,34,1823	26.0	25.0	26.0			4.2	1.0	10	dbSNP_132	26	912,64,7278		43,0,826,0,64,3194	no	codingComplex	ZRANB1	NM_017580.2		55,0,1089,0,98,5017	A1A1,A1A2,A1R,A2A2,A2R,RR		11.8246,7.5281,10.3611			126673561	1199,98,11221	2203	4300	6503	SO:0001567	stop_retained_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	Exception_encountered	10.37:g.126673561delA			B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Frame_Shift_Del	DEL	pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2	p.*709fs	ENST00000359653.4	37	c.2127	CCDS7642.1	10																																																																																			ZRANB1	-	NULL	ENSG00000019995		0.448	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZRANB1	HGNC	protein_coding	OTTHUMT00000050898.1		0.00	40	0	A	NM_017580		126673561	+1	tier1		no_errors	ENST00000359653	ensembl	human	known	74_37	frame_shift_del	9.09	30	3	DEL	0.994	-
